Name Chr MapInfo Alleles Transcript(s) Gene(s) In-exon Mutation(s) indel.83656 1 0 [I/D] MitoA8870G 1 569418 [A/G] rs3131972 1 752721 [A/G] exm2268640 1 762320 [T/C] NR_024321 LINC00115 EXON Silent rs11240777 1 798959 [A/G] rs4970383 1 838555 [A/C] rs4475691 1 846808 [T/C] exm41 1 861349 [T/C] NM_152486 SAMD11 EXON Missense_P10S rs13302982 1 861808 [A/G] NM_152486 SAMD11 Silent exm1916089 1 865545 [A/G] NM_152486 SAMD11 EXON Missense_R28Q exm44 1 865584 [A/G] NM_152486 SAMD11 EXON Missense_R41Q exm46 1 865625 [A/G] NM_152486 SAMD11 EXON Missense_D55N exm47 1 865628 [A/G] NM_152486 SAMD11 EXON Missense_G56S exm51 1 865662 [A/G] NM_152486 SAMD11 EXON Missense_R67Q exm53 1 865665 [A/G] NM_152486 SAMD11 EXON Missense_R68Q exm55 1 865694 [T/C] NM_152486 SAMD11 EXON Missense_H78Y exm60 1 866429 [T/C] NM_152486 SAMD11 EXON Missense_H89Y exm63 1 866438 [A/G] NM_152486 SAMD11 EXON Missense_V92M exm67 1 871159 [A/G] NM_152486 SAMD11 EXON Missense_G105S exm74 1 871213 [C/G] NM_152486 SAMD11 EXON Missense_P123A exm76 1 871228 [T/C] NM_152486 SAMD11 EXON Missense_R128C exm85 1 871276 [A/G] NM_152486 SAMD11 EXON Missense_G144S exm88 1 874456 [A/G] NM_152486 SAMD11 EXON Missense_R156H exm94 1 874501 [T/C] NM_152486 SAMD11 EXON Missense_S171L exm101 1 874673 [A/G] NM_152486 SAMD11 EXON Missense_R180Q exm104 1 874714 [T/C] NM_152486 SAMD11 EXON Missense_R194W exm106 1 874762 [T/C] NM_152486 SAMD11 EXON Missense_R210C exm116 1 877556 [A/G] NM_152486 SAMD11 EXON Missense_A304T exm2233917 1 878250 [A/G] NM_152486 SAMD11 EXON Missense_D459G exm145 1 878423 [T/C] NM_152486 SAMD11 EXON Missense_P517S exm151 1 878697 [A/G] NM_152486 SAMD11 EXON Nonsense_W543X exm158 1 878744 [G/C] NM_152486 SAMD11 EXON Missense_G559A exm174 1 879297 [T/C] NM_152486 SAMD11 EXON Missense_R604C exm1917884 1 879364 [A/G] NM_152486 SAMD11 EXON Missense_R626Q exm192 1 879381 [T/C] NM_152486 SAMD11 EXON Missense_L632F exm2275405 1 879439 [A/G] NM_152486 SAMD11 EXON Missense_G651D exm210 1 879481 [C/G] NM_152486 SAMD11 EXON Missense_G665A exm222 1 880160 [T/C] NM_015658 NOC2L EXON Missense_A722T exm2253572 1 880167 [A/G] NM_015658 NOC2L EXON Synonymous_D719D exm233 1 880466 [T/C] NM_015658 NOC2L EXON Missense_E705G exm241 1 880502 [T/C] NM_015658 NOC2L EXON Missense_R693Q exm246 1 880922 [T/C] NM_015658 NOC2L EXON Missense_D677N exm248 1 880942 [A/G] NM_015658 NOC2L EXON Missense_L670P exm249 1 880943 [A/G] NM_015658 NOC2L EXON Synonymous_L670L exm255 1 881554 [T/C] NM_015658 NOC2L EXON Missense_R639Q exm2253575 1 881627 [A/G] NM_015658 NOC2L EXON Synonymous_L615L exm2233921 1 881784 [T/C] NM_015658 NOC2L EXON Missense_V601M exm1917942 1 881825 [T/C] NM_015658 NOC2L EXON Missense_R587H exm268 1 881894 [A/G] NM_015658 NOC2L EXON Missense_A564V exm269 1 881918 [A/G] NM_015658 NOC2L EXON Missense_S556L exm284 1 883899 [T/G] NM_015658 NOC2L EXON Missense_N510H exm289 1 883947 [A/G] NM_015658 NOC2L EXON Missense_R494C variant.16 1 887521 [T/C] NM_015658 NOC2L Silent exm314 1 887799 [T/C] NM_015658 NOC2L EXON Missense_R395H exm1918034 1 887812 [A/C] NM_015658 NOC2L EXON Missense_A391S exm323 1 887874 [A/G] NM_015658 NOC2L EXON Missense_P370L exm328 1 887967 [A/G] NM_015658 NOC2L EXON Missense_T339M exm332 1 888563 [T/C] NM_015658 NOC2L EXON Missense_V332I exm340 1 888659 [T/C] NM_015658 NOC2L EXON Missense_I300V exm348 1 889238 [A/G] NM_015658 NOC2L EXON Missense_A271V exm352 1 889387 [T/C] NM_015658 NOC2L EXON Missense_I258M exm355 1 889403 [T/A] NM_015658 NOC2L EXON Missense_Y253F exm360 1 891309 [T/C] NM_015658 NOC2L EXON Missense_S231N exm369 1 891358 [T/G] NM_015658 NOC2L EXON Missense_L215I exm371 1 891384 [A/G] NM_015658 NOC2L EXON Missense_A206V exm372 1 891393 [A/G] NM_015658 NOC2L EXON Missense_A203V exm382 1 891591 [T/C] NM_015658 NOC2L EXON Missense_R164H exm383 1 891592 [A/G] NM_015658 NOC2L EXON Missense_R164C exm395 1 892380 [A/G] NM_015658 NOC2L EXON Missense_A127V exm396 1 892388 [G/C] NM_015658 NOC2L EXON Missense_E124D exm1918242 1 892648 [T/C] NM_015658 NOC2L EXON Missense_R62H exm410 1 894315 [A/G] NM_015658 NOC2L EXON Missense_S58L exm411 1 894330 [A/G] NM_015658 NOC2L EXON Missense_P53L exm2264981 1 894573 [A/G] NM_015658 NOC2L Silent exm425 1 894610 [A/G] NM_015658 NOC2L EXON Missense_A4V exm447 1 897009 [A/G] NM_198317 KLHL17 EXON Missense_N123S exm464 1 897285 [A/G] NM_198317 KLHL17 EXON Missense_D190G exm493 1 897849 [T/C] NM_198317 KLHL17 EXON Missense_R276W exm503 1 898153 [A/C] NM_198317 KLHL17 EXON Missense_L300M exm513 1 898247 [A/G] NM_198317 KLHL17 EXON Missense_R331H exm534 1 898542 [A/G] NM_198317 KLHL17 EXON Missense_T366A exm545 1 898782 [T/C] NM_198317 KLHL17 EXON Missense_P418L exm546 1 898787 [T/G] NM_198317 KLHL17 EXON Missense_V420L exm554 1 898869 [T/C] NM_198317 KLHL17 EXON Missense_A447V exm564 1 899489 [A/G] NM_198317 KLHL17 EXON Missense_G483R exm570 1 899537 [A/G] NM_198317 KLHL17 EXON Missense_T499A exm580 1 899789 [A/G] NM_198317 KLHL17 EXON Missense_V527M exm596 1 900427 [A/G] NM_198317 KLHL17 EXON Synonymous_E595E exm2253593 1 900427 [A/G] NM_198317 KLHL17 EXON Synonymous_E595E exm603 1 900519 [A/G] NM_198317 KLHL17 EXON Missense_N626S exm611 1 900560 [A/C] NM_198317 KLHL17 EXON Missense_T640P exm1918827 1 901922 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S4N,Missense_S4N exm615 1 901923 [A/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S4R,Missense_S4R exm624 1 902088 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_D30N,Missense_D30N exm628 1 902128 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_A43V,Missense_A43V exm629 1 902133 [C/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R45G,Missense_R45G exm635 1 902176 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_P59L,Missense_P59L rs28391282 1 904165 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 Silent,Silent exm636 1 905669 [G/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_L66V,Missense_L66V exm638 1 905723 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_G84R,Missense_G84R exm639 1 905729 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R86W,Missense_R86W exm648 1 905901 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_D111N,Missense_D111N exm656 1 906067 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_G138E,Missense_G138E exm662 1 906100 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_P149L,Missense_P149L exm668 1 906132 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_I160V,Missense_I160V exm1918903 1 906472 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Silent,Missense_E210K exm684 1 906494 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R205H,Missense_R217H exm687 1 906512 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R211Q,Missense_R223Q exm694 1 906583 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_A235T,Missense_A247T exm697 1 906717 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R241Q,Missense_R253Q exm714 1 907676 [T/A] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_I292F,Missense_I304F exm717 1 907709 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_E303K,Missense_E315K exm725 1 907799 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S333P,Missense_S345P exm727 1 908275 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_G346D,Missense_G358D exm1918959 1 908323 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R362H,Missense_R374H exm738 1 908389 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_P384L,Missense_P396L exm739 1 908390 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Synonymous_P384P,Synonymous_P396P exm741 1 908585 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R391H,Silent exm742 1 908587 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_A392T,Silent exm762 1 908944 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S453L,Missense_S418L exm766 1 909006 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R474W,Missense_R439W exm767 1 909015 [G/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_E477Q,Missense_E442Q exm773 1 909238 [G/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R487P,Missense_R452P exm777 1 909253 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S492L,Missense_S457L exm779 1 909268 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S497L,Missense_S462L exm781 1 909276 [T/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_V500L,Missense_V465L exm782 1 909309 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S511P,Missense_S476P exm2253598 1 909320 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Synonymous_P514P,Synonymous_P479P exm792 1 909381 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R535W,Missense_R500W exm810 1 909888 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S590F,Missense_S555F rs2341354 1 918573 [A/G] rs9777703 1 928836 [T/C] rs1891910 1 932457 [A/G] exm860 1 934735 [A/C] NM_021170,NM_001142467 HES4,HES4 EXON Missense_F124V,Missense_F150V exm861 1 934770 [A/G] NM_021170,NM_001142467 HES4,HES4 EXON Missense_A112V,Missense_A138V exm866 1 934801 [T/C] NM_021170,NM_001142467 HES4,HES4 EXON Missense_A102T,Missense_A128T exm878 1 935085 [A/G] NM_021170,NM_001142467 HES4,HES4 EXON Missense_A64V,Missense_A90V exm880 1 935089 [C/G] NM_021170,NM_001142467 HES4,HES4 EXON Missense_D63H,Missense_D89H rs3128117 1 944564 [T/C] rs2465126 1 947034 [A/G] exm897 1 949422 [A/G] NM_005101 ISG15 EXON Missense_S21N exm904 1 949491 [A/G] NM_005101 ISG15 EXON Missense_R44H exm905 1 949502 [T/C] NM_005101 ISG15 EXON Missense_H48Y exm912 1 949608 [A/G] NM_005101 ISG15 EXON Missense_S83N exm925 1 949802 [A/G] NM_005101 ISG15 EXON Missense_V148M exm928 1 949832 [A/G] NM_005101 ISG15 EXON Missense_G158S rs3128126 1 962210 [A/G] NM_198576,NM_001305275 AGRN,AGRN Silent,Silent exm958 1 970687 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P165L,Missense_P165L,Missense_P60L exm988 1 976963 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_Q353R,Missense_Q353R,Missense_Q248R exm991 1 977028 [T/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A375S,Missense_A375S,Missense_A270S exm999 1 977356 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R400W,Missense_R400W,Missense_R295W exm1002 1 977396 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R413H,Missense_R413H,Missense_R308H exm1013 1 978628 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P465L,Missense_P465L,Missense_P360L exm1016 1 978645 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_V471M,Missense_V471M,Missense_V366M exm1019 1 978694 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A487V,Missense_A487V,Missense_A382V exm1022 1 978747 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_D505N,Missense_D505N,Missense_D400N exm1024 1 978762 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_G510S,Missense_G510S,Missense_G405S exm1029 1 978804 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R524W,Missense_R524W,Missense_R419W exm1039 1 978974 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_V554M,Missense_V554M,Missense_V449M exm1061 1 979397 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_E665K,Missense_E665K,Missense_E560K exm1062 1 979400 [G/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_Q666E,Missense_Q666E,Missense_Q561E exm1063 1 979491 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_E668K,Missense_E668K,Missense_E563K exm1078 1 979594 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P702L,Missense_P702L,Missense_P597L exm1079 1 979720 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_G719S,Missense_G719S,Missense_G614S exm1081 1 979748 [T/A] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_E728V,Missense_E728V,Missense_E623V exm1084 1 980552 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A756T,Missense_A756T,Missense_A651T exm1085 1 980556 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P757L,Missense_P757L,Missense_P652L exm1089 1 980595 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P770L,Missense_P770L,Missense_P665L exm1092 1 980636 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_V784M,Missense_V784M,Missense_V679M exm1101 1 980863 [G/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_N832K,Missense_N832K,Missense_N727K exm1107 1 980903 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P846S,Missense_P846S,Missense_P741S exm1110 1 981131 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_Q852R,Missense_Q852R,Missense_Q747R exm1957023 1 981139 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_V855M,Missense_V855M,Missense_V750M exm1117 1 981223 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_G883S,Missense_G883S,Missense_G778S exm1123 1 981345 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Synonymous_D894D,Synonymous_D894D,Synonymous_D789D exm1124 1 981353 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A897V,Missense_A897V,Missense_A792V exm1125 1 981359 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A899V,Missense_A899V,Missense_A794V exm1127 1 981376 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R905C,Missense_R905C,Missense_R800C exm1131 1 981394 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R911W,Missense_R911W,Missense_R806W exm1149 1 981852 [A/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A996E,Missense_A996E,Missense_A891E exm1160 1 981942 [A/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_T1026N,Missense_T1026N,Missense_T921N exm1164 1 981996 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_T1044M,Missense_T1044M,Missense_T939M exm1170 1 982213 [C/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_L1088F,Missense_L1088F,Missense_L983F exm1176 1 982302 [A/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_T1118K,Missense_T1118K,Missense_T1013K exm1179 1 982722 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_Q1135R,Missense_Q1135R,Missense_Q1030R exm1193 1 982968 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1178W,Missense_R1178W,Missense_R1073W exm1194 1 982969 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1178Q,Missense_R1178Q,Missense_R1073Q exm1196 1 983005 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1190H,Missense_R1190H,Missense_R1085H exm1198 1 983011 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1192Q,Missense_R1192Q,Missense_R1087Q exm1957373 1 983040 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A1202T,Missense_A1202T,Missense_A1097T exm1206 1 983243 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1240L,Missense_P1240L,Missense_P1135L exm1210 1 983404 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A1255V,Missense_A1255V,Missense_A1150V exm1219 1 983506 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1289L,Missense_P1289L,Missense_P1184L exm1957454 1 983695 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_G1352D,Missense_G1352D,Missense_G1247D exm1234 1 984280 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1380H,Missense_R1380H,Missense_R1275H exm1246 1 984656 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_V1447M,Missense_V1447M,Missense_V1342M exm1247 1 984660 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1448L,Missense_P1448L,Missense_P1343L exm1256 1 984723 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_S1469L,Missense_S1469L,Missense_S1364L exm1258 1 984794 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_L1493F,Missense_L1493F,Missense_L1388F exm1957592 1 984947 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A1506T,Missense_A1506T,Missense_A1401T exm1264 1 984965 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_V1512M,Missense_V1512M,Missense_V1407M exm1265 1 984971 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A1514T,Missense_A1514T,Missense_A1409T exm1269 1 985038 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1536L,Missense_P1536L,Missense_P1431L exm1300 1 985614 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Synonymous_A1627A,Synonymous_A1627A,Synonymous_A1522A exm1312 1 985826 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_V1666I,Missense_V1666I,Missense_V1561I exm1334 1 986165 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1734H,Missense_R1734H,Missense_R1629H exm1348 1 986732 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_D1785N,Synonymous_S1788S,Synonymous_S1683S exm1957908 1 986963 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1834L,Nonsense_R1838X,Nonsense_R1733X exm1368 1 986998 [G/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_G1846R,Synonymous_G1849G,Synonymous_G1744G exm1381 1 989155 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_H1892Y,Synonymous_T1914T,Synonymous_T1790T exm1387 1 989207 [C/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_S1909T,Missense_V1932L,Missense_V1808L exm1388 1 989216 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A1912V,Missense_P1935S,Missense_P1811S exm1389 1 989219 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_T1913M,Missense_R1936W,Missense_R1812W rs2465136 1 990417 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Silent,Silent,Silent rs7526076 1 998395 [A/G] NR_148960 LOC100288175 Silent rs9442372 1 1018704 [A/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent exm1690136 1 1021285 [T/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_P140T,Missense_P140T,Missense_P176T exm1470 1 1021302 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_K134R,Missense_K134R,Missense_K170R exm1471 1 1021315 [A/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_F130V,Missense_F130V,Missense_F166V exm1475 1 1021386 [A/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_P106L,Missense_P106L,Missense_P142L rs10907178 1 1021583 [A/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent exm1480 1 1022534 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_G99R,Missense_G99R,Missense_G135R exm1494 1 1025751 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_A44T,Missense_A44T,Missense_A80T exm1507 1 1026913 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_R4Q,Missense_R4Q,Missense_R4Q rs6687776 1 1030565 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent rs6671356 1 1040026 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent rs7548798 1 1060174 [T/C] exm2263810 1 1062638 [A/C] rs9442373 1 1062638 [A/C] rs2298217 1 1064979 [T/C] rs10907182 1 1066403 [T/C] rs9442385 1 1097335 [T/G] rs4442317 1 1106784 [T/C] rs4970421 1 1108637 [A/G] rs11260542 1 1110019 [A/G] NM_001130045 TTLL10 Silent rs12092254 1 1113121 [A/G] NM_001130045 TTLL10 Silent exm1542 1 1114668 [A/G] NM_001130045 TTLL10 EXON Missense_G25S exm1550 1 1115461 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R83W,Missense_R10W exm1551 1 1115464 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_C84R,Missense_C11R exm1553 1 1115503 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_C97R,Missense_C24R exm1554 1 1115510 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_P99L,Missense_P26L exm1556 1 1115548 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_G112R,Missense_G39R exm1558 1 1115576 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R121Q,Missense_R48Q exm1560 1 1115602 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_A130T,Missense_A57T exm1565 1 1115674 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R154W,Missense_R81W exm1571 1 1115954 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Nonsense_R200X,Nonsense_R127X exm1572 1 1115955 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R200Q,Missense_R127Q exm1580 1 1116182 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R233W,Missense_R160W exm1581 1 1116183 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R233Q,Missense_R160Q exm1582 1 1116188 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R235W,Missense_R162W exm1583 1 1116189 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R235Q,Missense_R162Q exm1584 1 1116195 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R237Q,Missense_R164Q exm1591 1 1117141 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_A259V,Missense_A186V exm1592 1 1117159 [T/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_L265R,Missense_L192R exm1601 1 1117800 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R297K,Missense_R224K exm1609 1 1118330 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_E331K,Missense_E258K exm1626 1 1119361 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_I384V,Missense_I311V exm1631 1 1119410 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R400H,Missense_R327H exm1640 1 1120370 [G/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_L428V,Missense_L355V exm1641 1 1120377 [A/T] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_M430K,Missense_M357K exm1645 1 1120421 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R445C,Missense_R372C exm1646 1 1120431 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_S448N,Missense_S375N exm1649 1 1120488 [A/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_K467T,Missense_K394T exm2249617 1 1120489 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Synonymous_K467K,Synonymous_K394K exm1651 1 1120494 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Silent,Missense_R396H exm1654 1 1120503 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Silent,Missense_C399Y rs11260549 1 1121794 [A/G] NM_001130045 TTLL10 Silent rs10907175 1 1130727 [A/C] NM_001130045 TTLL10 Silent rs3819001 1 1138913 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Silent,Silent,Silent exm1677 1 1139062 [A/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_S226L,Silent,Silent exm1687 1 1139251 [G/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_R163T,Missense_K226N,Missense_K233N exm1688 1 1139268 [A/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Synonymous_S157S,Nonsense_R221X,Nonsense_R228X exm1691 1 1139277 [A/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Synonymous_S154S,Missense_R218W,Missense_R225W exm1692 1 1139287 [A/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_P151L,Synonymous_P214P,Synonymous_P221P exm1693 1 1139308 [A/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_T144M,Synonymous_D207D,Synonymous_D214D exm1695 1 1139320 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_R140H,Synonymous_P203P,Synonymous_P210P exm1703 1 1139498 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Silent,Missense_V173M,Missense_V173M exm1701740 1 1139603 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Silent,Missense_G138R,Missense_G138R exm1726 1 1140855 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_E69K,Missense_E69K,Missense_E69K exm1730 1 1141765 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_G63S,Missense_G63S,Missense_G63S exm1732 1 1141776 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_R59H,Missense_R59H,Missense_R59H exm1761 1 1147337 [T/C] NM_003327 TNFRSF4 EXON Missense_V207M exm1769 1 1147462 [A/G] NM_003327 TNFRSF4 EXON Missense_I165T exm1771 1 1147486 [A/G] NM_003327 TNFRSF4 EXON Missense_P157L exm1782 1 1148449 [A/G] NM_003327 TNFRSF4 EXON Missense_L98P exm1789 1 1149105 [A/G] NM_003327 TNFRSF4 EXON Missense_P69L exm1790 1 1149109 [T/C] NM_003327 TNFRSF4 EXON Missense_G68R exm1808 1 1152917 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_A355V,Silent exm1812 1 1152971 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_E337G,Silent exm1822 1 1153047 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_E312K,Silent exm1702568 1 1153073 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Silent,Missense_R342C exm1829 1 1153099 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Silent,Missense_A333V exm1832 1 1153129 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Silent,Missense_R323Q exm1839 1 1153858 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_V298M,Missense_V298M exm2230853 1 1154157 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_R243Q,Missense_R243Q rs3813199 1 1158277 [A/G] NM_016176,NM_016547 SDF4,SDF4 Silent,Silent exm1862 1 1158672 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_V177I,Missense_V177I 1KG_1_1158675 1 1158675 [I/D] NM_016176,NM_016547 SDF4,SDF4 EXON exm1864 1 1159213 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Synonymous_D154D,Synonymous_D154D rs7515488 1 1163804 [T/C] NM_016176,NM_016547 SDF4,SDF4 Silent,Silent exm1872 1 1163881 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_R98Q,Missense_R98Q exm1885 1 1164015 [A/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_E53D,Missense_E53D exm1886 1 1164018 [G/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_E52D,Missense_E52D exm1890 1 1164065 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_R37W,Missense_R37W exm1892 1 1164073 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_A34V,Missense_A34V exm1909 1 1168115 [A/C] NM_080605 B3GALT6 EXON Missense_L153I exm1924 1 1168511 [A/G] NM_080605 B3GALT6 EXON Missense_D285N exm1932 1 1177981 [T/C] NM_001014980 C1QTNF12 EXON Missense_V286I exm1703904 1 1178280 [T/C] NM_001014980 C1QTNF12 EXON Missense_V249I exm1949 1 1178442 [A/G] NM_001014980 C1QTNF12 EXON Missense_T244M exm1952 1 1178482 [A/G] NM_001014980 C1QTNF12 EXON Missense_C231R exm1965 1 1178848 [A/G] NM_001014980 C1QTNF12 EXON Nonsense_Q206X exm1966 1 1178854 [T/C] NM_001014980 C1QTNF12 EXON Missense_I204V exm1968 1 1178883 [A/G] NM_001014980 C1QTNF12 EXON Missense_S194L exm1971 1 1178925 [A/G] NM_001014980 C1QTNF12 EXON Missense_A180V exm1975 1 1179365 [T/C] NM_001014980 C1QTNF12 EXON Missense_R167Q exm1987 1 1179619 [A/C] NM_001014980 C1QTNF12 EXON Nonsense_E111X exm1989 1 1179637 [A/G] NM_001014980 C1QTNF12 EXON Missense_P105S exm1992 1 1179762 [A/G] NM_001014980 C1QTNF12 EXON Missense_P98L exm2001 1 1179816 [T/C] NM_001014980 C1QTNF12 EXON Missense_R80Q rs4018608 1 1203938 [T/C] NM_194315,NM_058167,NM_194457,NM_194458 UBE2J2,UBE2J2,UBE2J2,UBE2J2 Silent,Silent,Silent,Silent rs6685064 1 1211292 [T/C] exm-rs6685064 1 1211292 [T/C] exm2059 1 1216848 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Synonymous_S45S,Silent exm2062 1 1219382 [C/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_Q126E,Silent exm2063 1 1219401 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_P132L,Silent exm2067 1 1219456 [G/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Synonymous_G150G,Silent exm2070 1 1220954 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Synonymous_S156S,Silent exm2081 1 1221459 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R238C,Silent exm2090 1 1221530 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Synonymous_V261V,Silent exm2093 1 1221564 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R273C,Silent exm2097 1 1221613 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R289H,Silent exm2100 1 1221657 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R304W,Silent exm2105 1 1222218 [T/A] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_N328Y,Silent exm2106 1 1222220 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Synonymous_N328N,Silent exm2110 1 1222267 [G/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R344P,Silent exm2113 1 1222279 [G/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_P348R,Silent exm2129 1 1222519 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Nonsense_R384X,Silent exm2130 1 1222528 [A/T] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_T387S,Silent exm2131 1 1222529 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_T387M,Silent exm2135 1 1222596 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Synonymous_P409P,Silent exm2138 1 1222630 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_G421S,Silent exm2140 1 1222657 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_D430N,Silent exm2144 1 1222895 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R440W,Silent exm2153 1 1222958 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R461C,Silent exm2161 1 1223058 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_G469S,Silent exm2166 1 1223122 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R490K,Silent exm2169 1 1223149 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_T499M,Silent exm2172 1 1223178 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_V509I,Silent exm2182 1 1223376 [G/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_V541L,Silent exm2183 1 1223385 [G/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_E544Q,Silent exm2195 1 1225753 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R589W,Silent exm2206 1 1225899 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R608Q,Silent exm2214 1 1226031 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_K625R,Silent exm2217 1 1226063 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_A636T,Silent exm2225 1 1226312 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_P652L,Silent exm2232 1 1226462 [T/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_I665S,Silent exm2233 1 1226470 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_V668I,Silent exm2239 1 1226512 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_V682M,Silent exm2250 1 1226757 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_G726S,Silent exm2257 1 1226776 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_A732V,Silent exm2258 1 1226777 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Synonymous_A732A,Silent exm2259 1 1226797 [C/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_A739G,Silent exm2263 1 1226851 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_P757L,Silent exm2266 1 1226862 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_G761S,Silent exm2267 1 1226867 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Synonymous_T762T,Silent exm2268 1 1226878 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_P766L,Silent exm2270 1 1226889 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_G770R,Silent exm2271 1 1226904 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R775W,Silent exm2272 1 1226912 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_M777I,Silent rs3737721 1 1227897 [A/G] NM_030649 ACAP3 EXON Silent exm2290 1 1229225 [T/C] NM_030649 ACAP3 EXON Missense_A780T exm2326 1 1231185 [A/G] NM_030649 ACAP3 EXON Missense_R546C exm2328 1 1231208 [T/C] NM_030649 ACAP3 EXON Missense_C538Y exm2330 1 1231245 [G/C] NM_030649 ACAP3 EXON Missense_A526P exm2334 1 1231280 [A/T] NM_030649 ACAP3 EXON Missense_E514V exm2363 1 1233288 [C/G] NM_030649 ACAP3 EXON Missense_E348Q exm2370 1 1233490 [T/C] NM_030649 ACAP3 EXON Missense_A307T exm2440 1 1238583 [A/G] NM_030649 ACAP3 EXON Missense_R62C rs12410087 1 1239935 [A/C] NM_030649 ACAP3 Silent exm2230959 1 1244644 [T/C] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_P105L,Silent,Missense_P105L exm2468 1 1244646 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_A106T,Silent,Missense_A106T exm2497 1 1246013 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 Silent,Silent,Silent newrs143765035 1 1246013 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 Silent,Silent,Silent exm1706581 1 1246018 [G/C] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_L217V,Silent,Missense_L217V exm2498 1 1246022 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_R218Q,Silent,Missense_R218Q variant.153 1 1246068 [T/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_Q233H,Silent,Missense_Q233H variant.154 1 1246069 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 Silent,Silent,Silent exm2510 1 1246319 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_V244M,Silent,Missense_V267M exm2513 1 1246373 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_D262N,Silent,Missense_D285N exm2520 1 1246450 [T/C] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Synonymous_L287L,Silent,Synonymous_L310L newrs140444081 1 1246451 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_G288S,Silent,Missense_G311S exm2524 1 1246749 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_S301N,Silent,Missense_S324N exm2539 1 1247454 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_A561T,Missense_A460T,Missense_A532T,Missense_A463T,Missense_A567T exm2542 1 1247469 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_V556I,Missense_V455I,Missense_V527I,Missense_V458I,Missense_V562I exm2249776 1 1247626 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Synonymous_R529R,Synonymous_R428R,Synonymous_R500R,Synonymous_R431R,Synonymous_R535R exm2556 1 1247736 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_V493M,Missense_V392M,Missense_V464M,Missense_V395M,Missense_V499M exm2562 1 1247820 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Synonymous_S488S,Synonymous_S387S,Synonymous_S459S,Synonymous_S390S,Synonymous_S494S exm2249777 1 1247826 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Synonymous_K486K,Synonymous_K385K,Synonymous_K457K,Synonymous_K388K,Synonymous_K492K exm2571 1 1248041 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_T445M,Missense_T344M,Missense_T416M,Missense_T347M,Missense_T451M exm2249779 1 1248046 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Synonymous_T443T,Synonymous_T342T,Synonymous_T414T,Synonymous_T345T,Synonymous_T449T exm2589 1 1248323 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_V380I,Missense_V279I,Missense_V351I,Missense_V282I,Missense_V386I exm2590 1 1248329 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Synonymous_L378L,Synonymous_L277L,Synonymous_L349L,Synonymous_L280L,Synonymous_L384L indel.166 1 1249193 [D/I] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON exm2624 1 1250209 [A/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_G233W,Missense_G132W,Missense_G204W,Missense_G135W,Missense_G239W exm2230965 1 1250268 [G/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_S213C,Missense_S112C,Missense_S184C,Missense_S115C,Missense_S219C variant.168 1 1250794 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Nonsense_R185X,Nonsense_R84X,Nonsense_R156X,Nonsense_R87X,Nonsense_R191X indel.169 1 1250804 [I/D] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON exm2656 1 1254678 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Nonsense_Q143X,Silent,Nonsense_Q114X,Silent,Nonsense_Q149X exm2249782 1 1254694 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Synonymous_H137H,Silent,Synonymous_H108H,Silent,Synonymous_H143H exm2659 1 1254777 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_I110V,Silent,Missense_I81V,Silent,Missense_I116V exm2676 1 1256453 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Nonsense_R17X,Nonsense_R17X,Silent,Silent,Nonsense_R23X rs3845293 1 1258246 [A/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 Silent,Silent,Silent,Silent,Silent exm2693 1 1262366 [A/G] NM_001029885 CPTP EXON Missense_E26K exm2695 1 1262635 [A/T] NM_001029885 CPTP EXON Missense_L46Q exm2697 1 1262695 [A/G] NM_001029885 CPTP EXON Missense_R66H exm1706776 1 1262701 [A/G] NM_001029885 CPTP EXON Missense_R68K exm2699 1 1262727 [A/C] NM_001029885 CPTP EXON Missense_R77S exm2713 1 1262886 [A/G] NM_001029885 CPTP EXON Missense_E130K exm2723 1 1262958 [A/G] NM_001029885 CPTP EXON Missense_V154M exm2727 1 1262979 [A/G] NM_001029885 CPTP EXON Missense_A161T exm2732 1 1263085 [A/G] NM_001029885 CPTP EXON Missense_R196H rs307354 1 1264539 [C/G] exm2745 1 1266738 [A/G] NM_152228 TAS1R3 EXON Missense_A5T exm2755 1 1267040 [T/G] NM_152228 TAS1R3 EXON Missense_W72G exm2762 1 1267106 [T/C] NM_152228 TAS1R3 EXON Missense_R94C exm2770 1 1267202 [A/G] NM_152228 TAS1R3 EXON Missense_A126T exm2774 1 1267253 [A/G] NM_152228 TAS1R3 EXON Missense_G143R exm2777 1 1267286 [A/G] NM_152228 TAS1R3 EXON Missense_G154S exm2778 1 1267291 [G/C] NM_152228 TAS1R3 EXON Missense_K155N exm2784 1 1267483 [A/G] NM_152228 TAS1R3 EXON Missense_R191H exm2785 1 1267495 [T/C] NM_152228 TAS1R3 EXON Missense_T195M exm2791 1 1267539 [A/G] NM_152228 TAS1R3 EXON Missense_A210T exm2794 1 1267559 [C/G] NM_152228 TAS1R3 EXON Missense_D216E exm2803 1 1267651 [A/G] NM_152228 TAS1R3 EXON Missense_R247H exm2821 1 1267870 [T/C] NM_152228 TAS1R3 EXON Missense_T320M exm2824 1 1267908 [A/G] NM_152228 TAS1R3 EXON Missense_E333K exm2829 1 1267953 [T/C] NM_152228 TAS1R3 EXON Missense_P348S exm2857 1 1268344 [T/A] NM_152228 TAS1R3 EXON Missense_L440Q exm2860 1 1268352 [T/C] NM_152228 TAS1R3 EXON Missense_R443W exm2861 1 1268362 [A/G] NM_152228 TAS1R3 EXON Missense_S446N exm2862 1 1268367 [A/G] NM_152228 TAS1R3 EXON Missense_G448R exm2864 1 1268373 [A/G] NM_152228 TAS1R3 EXON Missense_V450M exm2866 1 1268388 [A/G] NM_152228 TAS1R3 EXON Missense_D455N exm2870 1 1268457 [A/C] NM_152228 TAS1R3 EXON Missense_L478I exm2873 1 1268470 [A/G] NM_152228 TAS1R3 EXON Missense_R482H exm2874 1 1268482 [A/G] NM_152228 TAS1R3 EXON Missense_R486H exm2881 1 1268687 [T/C] NM_152228 TAS1R3 EXON Missense_R510W exm2882 1 1268688 [A/G] NM_152228 TAS1R3 EXON Missense_R510Q exm2883 1 1268701 [C/G] NM_152228 TAS1R3 EXON Missense_F514L exm2886 1 1268747 [T/C] NM_152228 TAS1R3 EXON Missense_R530W exm2889 1 1268894 [A/G] NM_152228 TAS1R3 EXON Missense_A537T exm2892 1 1268954 [T/C] NM_152228 TAS1R3 EXON Missense_R557C exm2928 1 1269329 [T/A] NM_152228 TAS1R3 EXON Missense_W682R exm2275408 1 1269432 [A/C] NM_152228 TAS1R3 EXON Missense_T716K exm2941 1 1269488 [A/G] NM_152228 TAS1R3 EXON Missense_A735T exm2942 1 1269503 [G/C] NM_152228 TAS1R3 EXON Missense_L740V exm2948 1 1269554 [T/C] NM_152228 TAS1R3 EXON Missense_C757R exm2273600 1 1269623 [C/G] NM_152228 TAS1R3 EXON Missense_P780A exm2959 1 1269741 [A/G] NM_152228 TAS1R3 EXON Missense_R819Q exm2984 1 1271808 [A/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_G601V,Missense_G576V exm2994 1 1273365 [T/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_Q569R,Missense_Q544R exm3001 1 1273654 [G/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_C501S,Missense_C476S exm3055 1 1275659 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_S246F,Missense_S246F exm3069 1 1275797 [G/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_A231G,Missense_A231G exm3070 1 1275804 [G/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_R229G,Missense_R229G exm3071 1 1275824 [T/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_R222Q,Missense_R222Q exm3075 1 1275882 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_L203F,Missense_L203F exm3076 1 1275883 [T/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Synonymous_R202R,Synonymous_R202R exm3090 1 1277119 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_A178V,Missense_A178V exm3091 1 1277120 [T/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_A178T,Missense_A178T exm3098 1 1277183 [T/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_A157T,Missense_A157T exm1707125 1 1277184 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Synonymous_A156A,Synonymous_A156A exm3101 1 1277466 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_R145W,Missense_R145W exm3111 1 1277833 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_A91V,Missense_A91V rs307380 1 1287127 [A/G] exm3147 1 1289446 [T/C] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON Missense_D396N,Missense_D295N,Missense_D396N,Missense_D387N,Missense_D396N exm3157 1 1289835 [T/C] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON Missense_R335Q,Missense_R234Q,Missense_R335Q,Missense_R326Q,Missense_R335Q exm3158 1 1289863 [A/C] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON Missense_V326F,Missense_V225F,Missense_V326F,Missense_V317F,Missense_V326F exm2230998 1 1290163 [A/T] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON Missense_E283V,Missense_E182V,Missense_E283V,Missense_E274V,Missense_E283V rs17160669 1 1305561 [T/C] rs2765015 1 1308982 [A/G] exm3203 1 1309185 [T/C] NM_017900,NM_001127229,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Missense_K199R,Missense_K199R,Missense_K199R exm3205 1 1309203 [T/C] NM_017900,NM_001127229,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Missense_K193R,Missense_K193R,Missense_K193R exm3211 1 1309405 [T/C] NM_017900,NM_001127229,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Missense_Q158R,Missense_Q158R,Missense_Q158R exm1707755 1 1309567 [A/G] NM_017900,NM_001127229,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Missense_P104L,Missense_P104L,Missense_P104L exm3225 1 1309583 [A/G] NM_017900,NM_001127229,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Nonsense_Q99X,Nonsense_Q99X,Nonsense_Q99X exm3243 1 1322654 [T/C] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_R376H,Missense_R285H,Missense_R285H,Silent,Missense_R285H,Missense_R376H,Silent,Silent,Missense_R507H,Missense_R285H exm3246 1 1322667 [A/G] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_R372C,Missense_R281C,Missense_R281C,Silent,Missense_R281C,Missense_R372C,Silent,Silent,Missense_R503C,Missense_R281C indel.203 1 1322718 [D/I] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON exm3250 1 1322735 [A/G] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_P349L,Missense_P258L,Missense_P258L,Silent,Missense_P258L,Missense_P349L,Silent,Silent,Missense_P480L,Missense_P258L exm1707956 1 1322736 [A/G] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_P349S,Missense_P258S,Missense_P258S,Silent,Missense_P258S,Missense_P349S,Silent,Silent,Missense_P480S,Missense_P258S exm3253 1 1322744 [A/G] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_A346V,Missense_A255V,Missense_A255V,Silent,Missense_A255V,Missense_A346V,Silent,Silent,Missense_A477V,Missense_A255V exm3254 1 1322753 [T/C] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_R343Q,Missense_R252Q,Missense_R252Q,Silent,Missense_R252Q,Missense_R343Q,Silent,Silent,Missense_R474Q,Missense_R252Q exm3255 1 1322754 [A/G] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_R343W,Missense_R252W,Missense_R252W,Silent,Missense_R252W,Missense_R343W,Silent,Silent,Missense_R474W,Missense_R252W exm3257 1 1322765 [T/C] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_R339Q,Missense_R248Q,Missense_R248Q,Silent,Missense_R248Q,Missense_R339Q,Silent,Silent,Missense_R470Q,Missense_R248Q exm3261 1 1322868 [T/C] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_A305T,Missense_A214T,Missense_A214T,Silent,Missense_A214T,Missense_A305T,Silent,Silent,Missense_A436T,Missense_A214T 1KG_1_1323216 1 1323216 [I/D] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON exm3299 1 1330832 [A/G] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498,NM_001039577 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A179V,Silent,Missense_A179V exm3307 1 1333713 [T/C] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498,NM_001039577 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_M125V,Silent,Missense_M125V exm3317 1 1334475 [G/C] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498,NM_001039577 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T71S,Silent,Missense_T71S exm3320 1 1334519 [G/C] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498,NM_001039577 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D56E,Silent,Missense_D56E rs1240707 1 1335302 [T/C] NR_015434 LOC148413 Silent rs1240708 1 1335790 [A/G] NR_015434 LOC148413 Silent exm3329 1 1337481 [T/G] NM_017971,NM_001318485 MRPL20,MRPL20 EXON Missense_R144S,Silent exm3332 1 1337539 [T/A] NM_017971,NM_001318485 MRPL20,MRPL20 EXON Missense_H125L,Silent variant.210 1 1341171 [T/C] NM_017971,NM_001318485 MRPL20,MRPL20 Silent,Silent exm3336 1 1341206 [T/C] NM_017971,NM_001318485 MRPL20,MRPL20 EXON Missense_I87V,Missense_I87V exm3350 1 1354515 [C/G] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_E389Q,Silent,Silent exm3352 1 1354538 [A/G] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_A381V,Silent,Silent exm3367 1 1354844 [T/C] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_R279Q,Missense_E99K,Silent exm3369 1 1354920 [A/C] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_V254L,Missense_R73S,Silent exm3377 1 1356330 [C/G] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_R19P,Missense_R19P,Missense_R19P exm3382 1 1361530 [T/C] NM_001146685 TMEM88B EXON Missense_T8M exm3388 1 1361736 [A/G] NM_001146685 TMEM88B EXON Missense_V77I rs873927 1 1366830 [A/G] NR_125996,NR_125995,NR_125994 LINC01770,LINC01770,LINC01770 Silent,Silent,Silent exm3397 1 1372441 [T/G] NM_022834,NM_199121 VWA1,VWA1 EXON Missense_A70S,Silent exm3418 1 1372690 [T/C] NM_022834,NM_199121 VWA1,VWA1 EXON Missense_P153S,Silent exm3425 1 1372743 [T/C] NM_022834,NM_199121 VWA1,VWA1 EXON Synonymous_T170T,Missense_R39W exm3426 1 1372750 [A/G] NM_022834,NM_199121 VWA1,VWA1 EXON Missense_G173S,Missense_R41K exm3429 1 1372773 [T/C] NM_022834,NM_199121 VWA1,VWA1 EXON Synonymous_A180A,Missense_R49C exm3458 1 1386089 [T/C] NM_001039211 ATAD3C EXON Missense_A9V exm3468 1 1387747 [T/C] NM_001039211 ATAD3C EXON Missense_A52V rs36044796 1 1388268 [A/C] NM_001039211 ATAD3C Silent exm1709164 1 1391192 [T/C] NM_001039211 ATAD3C EXON Missense_R154C exm3489 1 1391208 [T/C] NM_001039211 ATAD3C EXON Missense_M159T exm3507 1 1396132 [T/G] NM_001039211 ATAD3C EXON Missense_F272C exm3511 1 1396197 [A/G] NM_001039211 ATAD3C EXON Missense_V294M exm3518 1 1396296 [T/C] NM_001039211 ATAD3C EXON Missense_R327W exm3521 1 1398008 [A/G] NM_001039211 ATAD3C EXON Missense_G337R exm3522 1 1398032 [C/G] NM_001039211 ATAD3C EXON Missense_R345G exm3532 1 1403788 [A/G] NM_001039211 ATAD3C EXON Missense_G372R exm3533 1 1403800 [A/G] NM_001039211 ATAD3C EXON Missense_E376K exm1709263 1 1403821 [A/G] NM_001039211 ATAD3C EXON Missense_V383M exm3556 1 1412659 [T/G] NM_031921 ATAD3B EXON Missense_A71S exm3630 1 1421538 [A/G] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_T338A,Missense_T292A exm3652 1 1423256 [A/G] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_M410V,Missense_M364V exm2249844 1 1425658 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Synonymous_S453S,Synonymous_S407S rs819980 1 1425700 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Synonymous_I467I,Synonymous_I421I exm2275409 1 1425719 [A/G] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_D474N,Missense_D428N exm3678 1 1425726 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_P476L,Missense_P430L exm3680 1 1425753 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_V485A,Missense_V439A exm3706 1 1430968 [A/T] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_K573M,Missense_K527M exm3707 1 1430971 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_A574V,Missense_A528V exm3709 1 1430985 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_R579C,Missense_R533C exm2249851 1 1430993 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Synonymous_V581V,Synonymous_V535V exm3716 1 1431048 [A/G] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_T600A,Missense_T554A exm3718 1 1431060 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_Y604H,Missense_Y558H exm3719 1 1431066 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_C606R,Missense_C560R exm3724 1 1431109 [A/G] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_G620E,Missense_G574E exm3726 1 1431159 [A/G] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_G637S,Missense_G591S exm3727 1 1431163 [A/G] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_R638Q,Missense_R592Q rs6690515 1 1447325 [A/G] rs6669795 1 1450947 [A/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A Silent,Silent,Silent exm3743 1 1451415 [C/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_L77V,Missense_L77V,Silent exm3851 1 1460671 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Synonymous_T422T,Synonymous_T470T,Synonymous_T343T exm3861 1 1463118 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_W461R,Missense_W509R,Missense_W382R exm3862 1 1463119 [T/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_W461L,Missense_W509L,Missense_W382L exm3863 1 1463157 [G/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_D474H,Missense_D522H,Missense_D395H rs12032637 1 1465382 [A/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A Silent,Silent,Silent exm2231095 1 1469372 [T/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_A561S,Missense_A609S,Missense_A482S exm3879 1 1469384 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_H565Y,Missense_H613Y,Missense_H486Y exm3884 1 1469412 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_A574V,Missense_A622V,Missense_A495V exm3904 1 1470807 [T/C] NM_001114748 TMEM240 EXON Missense_A152T exm3908 1 1471017 [T/C] NM_001114748 TMEM240 EXON Missense_G109S rs1571149 1 1474167 [A/G] NM_001114748 TMEM240 Silent exm3923 1 1477537 [A/G] NM_014188 SSU72 EXON Missense_T165M rs2031709 1 1485984 [A/C] NM_014188 SSU72 Silent rs7531530 1 1489670 [T/C] NM_014188 SSU72 Silent rs6604983 1 1521595 [A/G] exm3957 1 1550992 [A/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688 MIB2,MIB2,MIB2,MIB2,MIB2 EXON Nonsense_C51X,Nonsense_C51X,Silent,Nonsense_C51X,Nonsense_C51X exm3962 1 1551927 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NR_146324,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_F72L,Missense_F72L,Silent,Missense_F72L,Missense_F72L,Silent,Silent exm3966 1 1551952 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NR_146324,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R80K,Missense_R80K,Silent,Missense_R80K,Missense_R80K,Silent,Silent exm3970 1 1558782 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R99W,Missense_R99W,Silent,Silent,Missense_R99W,Silent exm3973 1 1558792 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_M102T,Missense_M102T,Silent,Silent,Missense_M102T,Silent exm4002 1 1559297 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_D246N,Missense_D246N,Silent,Missense_D232N,Missense_D246N,Missense_D131N rs28635343 1 1560103 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 Silent,Silent,Silent,Silent,Silent,Silent exm4035 1 1560966 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R413H,Missense_R417H,Silent,Missense_R403H,Missense_R352H,Missense_R237H exm4046 1 1562091 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R456Q,Missense_R460Q,Silent,Missense_R446Q,Missense_R395Q,Missense_R280Q exm2250001 1 1562786 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Synonymous_D606D,Synonymous_D610D,Silent,Synonymous_D596D,Synonymous_D545D,Synonymous_D430D exm4087 1 1563100 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_A635V,Missense_A639V,Silent,Missense_A625V,Missense_A574V,Missense_A459V exm4089 1 1563105 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_A637T,Missense_A641T,Silent,Missense_A627T,Missense_A576T,Missense_A461T exm4090 1 1563109 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_I638T,Missense_I642T,Silent,Missense_I628T,Missense_I577T,Missense_I462T exm4091 1 1563121 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_Q642R,Missense_Q646R,Silent,Missense_Q632R,Missense_Q581R,Missense_Q466R exm4093 1 1563171 [C/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R659G,Missense_R663G,Silent,Missense_R649G,Missense_R598G,Missense_R483G exm4107 1 1563492 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_D703N,Missense_D707N,Silent,Missense_D693N,Missense_D642N,Missense_D527N exm4117 1 1563691 [T/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_V738G,Missense_V742G,Silent,Missense_V728G,Missense_V677G,Missense_V562G exm4119 1 1563707 [C/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_E743D,Missense_E747D,Silent,Missense_E733D,Missense_E682D,Missense_E567D exm4134 1 1564064 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_A833T,Missense_A837T,Silent,Missense_A823T,Missense_A772T,Missense_A657T exm4160 1 1565032 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Synonymous_R970R,Synonymous_R974R,Silent,Synonymous_R960R,Synonymous_R909R,Missense_D734N exm4171 1 1565891 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R1061H,Missense_R1065H,Silent,Missense_R1051H,Missense_R1000H,Silent rs28464684 1 1566160 [T/C] exm2250017 1 1572310 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B EXON Synonymous_P594P,Synonymous_P547P,Synonymous_P327P,Synonymous_P571P,Synonymous_P581P,Synonymous_P366P exm4276 1 1597351 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G363E,Missense_G363E exm4281 1 1597403 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G346S,Missense_G346S exm4292 1 1601104 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T278M,Missense_T278M exm4294 1 1601170 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P256L,Missense_P256L variant.241 1 1601537 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S254L,Missense_S254L exm4297 1 1603011 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A215V,Missense_A215V exm2264793 1 1611995 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent var_1_1635271 1 1635272 [I/D] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A EXON rs909823 1 1647686 [A/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent var_1_1647780 1 1647780 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.249 1 1647786 [I/D] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A EXON var_1_1647858 1 1647858 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A EXON Nonsense_Q139X,Nonsense_Q105X,Silent,Nonsense_Q129X,Nonsense_Q139X,Silent,Nonsense_Q129X,Nonsense_Q129X,Silent,Nonsense_Q129X,Silent,Nonsense_Q139X rs3817856 1 1663831 [T/C] NM_001199787,NM_182838 SLC35E2A,SLC35E2A EXON Silent,Silent exm4428 1 1663944 [A/G] NM_001199787,NM_182838 SLC35E2A,SLC35E2A EXON Silent,Nonsense_R251X rs2294488 1 1664019 [T/C] NM_001199787,NM_182838 SLC35E2A,SLC35E2A Silent,Silent exm2268858 1 1664124 [T/C] NM_001199787,NM_182838 SLC35E2A,SLC35E2A Silent,Silent rs7407 1 1684472 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Synonymous_P372P,Synonymous_P317P,Synonymous_P404P,Synonymous_P549P,Synonymous_P404P,Synonymous_P404P exm4494 1 1686024 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_G236S,Missense_G181S,Missense_G268S,Missense_G413S,Missense_G268S,Missense_G268S exm4499 1 1686063 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_V223M,Missense_V168M,Missense_V255M,Missense_V400M,Missense_V255M,Missense_V255M exm4503 1 1686081 [A/G] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_R217W,Missense_R162W,Missense_R249W,Missense_R394W,Missense_R249W,Missense_R249W exm4504 1 1686087 [C/G] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_E215Q,Missense_E160Q,Missense_E247Q,Missense_E392Q,Missense_E247Q,Missense_E247Q exm4505 1 1686116 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_R205Q,Missense_R150Q,Missense_R237Q,Missense_R382Q,Missense_R237Q,Missense_R237Q exm4520 1 1688005 [A/G] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_P114S,Missense_P59S,Missense_P146S,Missense_P291S,Missense_P146S,Missense_P146S exm4521 1 1688096 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Silent,Silent,Silent,Synonymous_P260P,Silent,Silent exm4526 1 1688550 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Silent,Silent,Silent,Missense_A259T,Silent,Silent exm1733478 1 1688579 [A/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Silent,Silent,Silent,Missense_G249V,Silent,Silent exm4527 1 1688694 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_V75I,Missense_V20I,Missense_V107I,Missense_V211I,Missense_V107I,Missense_V107I exm4538 1 1690544 [T/C] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK EXON Silent,Silent,Missense_T191A,Silent,Silent exm4543 1 1690621 [A/G] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK EXON Silent,Silent,Missense_P165L,Silent,Silent exm4548 1 1691176 [T/G] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK EXON Silent,Silent,Missense_E143D,Silent,Silent exm4550 1 1691199 [T/C] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK EXON Silent,Silent,Missense_G136S,Silent,Silent exm4570 1 1696761 [T/C] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK EXON Silent,Missense_D29N,Missense_D29N,Missense_D29N,Missense_D29N rs6603811 1 1706136 [T/C] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK Silent,Silent,Silent,Silent,Silent rs12041925 1 1707740 [T/G] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK Silent,Silent,Silent,Silent,Silent rs742359 1 1715011 [A/C] exm2250243 1 1720670 [A/G] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 EXON Synonymous_D246D,Synonymous_D146D,Synonymous_D246D exm4614 1 1756864 [T/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 EXON Missense_E10G,Silent,Missense_E10G rs4648727 1 1776269 [A/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent rs3855951 1 1804302 [T/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent rs7525092 1 1810090 [T/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent rs6603802 1 1812521 [T/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent rs16824526 1 1818129 [A/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent rs2247560 1 1846765 [A/G] NM_138705,NM_001330313 CALML6,CALML6 Silent,Silent rs28710181 1 1847531 [T/C] NM_138705,NM_001330313 CALML6,CALML6 Silent,Silent exm4638 1 1847886 [T/C] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_R29C,Missense_R12C exm4640 1 1847940 [A/G] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_E47K,Missense_E30K exm4644 1 1847968 [T/G] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_G56V,Missense_G39V exm4645 1 1847979 [T/C] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_W60R,Missense_W43R exm4647 1 1847994 [G/C] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_L65V,Missense_L48V exm4656 1 1848197 [C/G] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_G87A,Missense_G70A exm1741176 1 1848231 [A/G] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_M98I,Missense_M81I exm4660 1 1848287 [A/G] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_R117H,Missense_R100H exm4673 1 1848601 [T/C] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_M172T,Missense_M155T rs941532 1 1848734 [A/G] exm4691 1 1849530 [T/C] NM_178545 TMEM52 EXON Missense_M141V exm4696 1 1849727 [A/C] NM_178545 TMEM52 EXON Missense_M105R exm1741224 1 1849792 [G/C] NM_178545 TMEM52 EXON Missense_K83N rs28508199 1 1852484 [A/G] rs2250833 1 1854321 [A/G] NM_001304360 CFAP74 Silent indel.273 1 1857349 [I/D] NM_001304360 CFAP74 EXON rs2803316 1 1865298 [A/G] NM_001304360 CFAP74 Silent exm4806 1 1887019 [A/G] NM_001304360 CFAP74 Silent exm4808 1 1887049 [T/C] NM_001304360 CFAP74 Silent exm4809 1 1887055 [T/C] NM_001304360 CFAP74 Silent exm4847 1 1887195 [T/G] NM_001304360 CFAP74 EXON Missense_A704E exm4861 1 1888057 [A/G] NM_001304360 CFAP74 Silent exm4863 1 1888115 [A/G] NM_001304360 CFAP74 EXON Missense_F654L exm4869 1 1888168 [A/G] NM_001304360 CFAP74 EXON Missense_T636M exm4871 1 1888193 [A/C] NM_001304360 CFAP74 EXON Missense_G628C rs3820011 1 1888193 [A/C] NM_001304360 CFAP74 EXON Missense_G628C exm4882 1 1890559 [T/C] NM_001304360 CFAP74 EXON Synonymous_S617S variant.277 1 1890609 [A/G] NM_001304360 CFAP74 EXON Nonsense_Q601X exm4889 1 1891441 [T/C] NM_001304360 CFAP74 EXON Missense_G575R exm4907 1 1895269 [A/G] NM_001304360 CFAP74 EXON Missense_T538M exm4914 1 1896346 [A/G] NM_001304360 CFAP74 EXON Missense_P519L exm4915 1 1896379 [T/C] NM_001304360 CFAP74 EXON Missense_R508H exm4922 1 1896433 [T/C] NM_001304360 CFAP74 EXON Missense_R490H exm4926 1 1896466 [T/C] NM_001304360 CFAP74 EXON Missense_G479D exm4928 1 1896494 [T/C] NM_001304360 CFAP74 EXON Missense_K470E exm4931 1 1897822 [T/G] NM_001304360 CFAP74 EXON Nonsense_Y463X exm4932 1 1897832 [T/C] NM_001304360 CFAP74 EXON Missense_N460S exm4936 1 1897889 [G/C] NM_001304360 CFAP74 EXON Missense_P441R exm4945 1 1900102 [A/G] NM_001304360 CFAP74 EXON Missense_T406I exm4948 1 1900156 [T/C] NM_001304360 CFAP74 EXON Missense_R388Q exm4951 1 1900186 [T/C] NM_001304360 CFAP74 EXON Missense_K378R exm4955 1 1900211 [T/C] NM_001304360 CFAP74 EXON Missense_E370K rs16824588 1 1900232 [T/C] NM_001304360 CFAP74 EXON Missense_I363V exm4957 1 1900232 [T/C] NM_001304360 CFAP74 EXON Missense_I363V exm4965 1 1902129 [A/G] NM_001304360 CFAP74 EXON Missense_R339C exm4966 1 1902133 [G/C] NM_001304360 CFAP74 EXON Missense_H337Q exm4973 1 1902206 [A/G] NM_001304360 CFAP74 EXON Missense_A313V exm4974 1 1902225 [A/G] NM_001304360 CFAP74 EXON Missense_R307C exm4977 1 1902246 [A/G] NM_001304360 CFAP74 EXON Missense_R300W exm4981 1 1903426 [A/G] NM_001304360 CFAP74 EXON Missense_A294V exm4984 1 1903469 [A/G] NM_001304360 CFAP74 EXON Nonsense_R280X exm4988 1 1904401 [A/G] NM_001304360 CFAP74 EXON Missense_R254W exm4989 1 1904413 [T/C] NM_001304360 CFAP74 EXON Missense_K250E exm4990 1 1904424 [T/C] NM_001304360 CFAP74 EXON Missense_R246Q exm4998 1 1905467 [A/G] NM_001304360 CFAP74 EXON Missense_I224T exm5005 1 1905526 [A/C] NM_001304360 CFAP74 EXON Missense_E204D exm5009 1 1905557 [G/C] NM_001304360 CFAP74 EXON Missense_T194R rs3795283 1 1916587 [T/G] NM_001304360 CFAP74 Silent exm5043 1 1916904 [T/C] NM_001304360 CFAP74 EXON Missense_V141M exm5049 1 1918445 [T/C] NM_001304360 CFAP74 EXON Missense_R109Q exm5052 1 1918475 [G/C] NM_001304360 CFAP74 Silent exm5057 1 1920015 [A/G] NM_001304360 CFAP74 EXON Missense_R78W rs6605081 1 1930754 [T/C] NM_001304360 CFAP74 Silent rs6656398 1 1941929 [A/G] rs13303016 1 1946591 [A/G] exm2250439 1 1956414 [T/C] NM_000815 GABRD EXON Synonymous_S34S exm1744492 1 1959595 [T/C] NM_000815 GABRD EXON Synonymous_Y185Y exm5098 1 1959617 [A/G] NM_000815 GABRD EXON Missense_V193I exm5099 1 1959698 [T/C] NM_000815 GABRD EXON Missense_R220C exm1744497 1 1959730 [T/C] NM_000815 GABRD EXON Synonymous_S230S exm5105 1 1960588 [T/C] NM_000815 GABRD EXON Missense_R244W exm5108 1 1960633 [A/G] NM_000815 GABRD EXON Missense_V259I exm5130 1 1961512 [T/C] NM_000815 GABRD EXON Missense_P384S exm5141 1 1961672 [T/C] NM_000815 GABRD EXON Missense_A437V rs2376803 1 1967954 [T/C] exm5157 1 1986954 [A/G] NM_002744 PRKCZ EXON Missense_R49H rs6605074 1 1992748 [T/C] NM_002744 PRKCZ Silent rs6663158 1 2004098 [A/G] NM_002744 PRKCZ Silent rs2803310 1 2017297 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2459994 1 2024064 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs884080 1 2026749 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7513222 1 2027901 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs908742 1 2033256 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10910030 1 2035684 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12410859 1 2038732 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4648807 1 2040898 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4648808 1 2040936 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.294 1 2066702 [I/D] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON exm-rs425277 1 2069172 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs3753242 1 2069681 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs424079 1 2071340 [A/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm5179 1 2075653 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_A142V,Silent,Silent,Silent,Silent,Silent,Missense_A38V,Silent,Silent exm5180 1 2075672 [G/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_S148R,Silent,Silent,Silent,Silent,Silent,Missense_S44R,Silent,Silent exm5184 1 2075740 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_R171H,Silent,Silent,Silent,Silent,Silent,Missense_R67H,Silent,Silent exm1748820 1 2075748 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_G174S,Silent,Silent,Silent,Silent,Silent,Missense_G70S,Silent,Silent exm5190 1 2077520 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_D203N,Silent,Missense_D20N,Missense_D20N,Silent,Missense_D20N,Missense_D99N,Silent,Missense_D20N rs2257182 1 2082566 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs262643 1 2100840 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm5240 1 2106723 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_A516T,Silent,Missense_A341T,Missense_A341T,Missense_A279T,Missense_A333T,Missense_A412T,Missense_A279T,Missense_A333T variant.297 1 2106745 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Nonsense_W523X,Silent,Nonsense_W348X,Nonsense_W348X,Nonsense_W286X,Nonsense_W340X,Nonsense_W419X,Nonsense_W286X,Nonsense_W340X exm5242 1 2106747 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_D524N,Silent,Missense_D349N,Missense_D349N,Missense_D287N,Missense_D341N,Missense_D420N,Missense_D287N,Missense_D341N indel.298 1 2116849 [I/D] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 EXON rs2503701 1 2121118 [T/C] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm5277 1 2125086 [G/C] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947,NM_001256946 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 EXON Missense_S150W,Missense_S109W,Missense_F154L,Silent,Silent,Silent,Missense_F154L,Missense_F257L,Missense_S109W,Missense_F154L exm5285 1 2125205 [A/C] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947,NM_001256946 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 EXON Synonymous_P110P,Synonymous_P69P,Missense_A115S,Silent,Silent,Silent,Missense_A115S,Missense_A218S,Synonymous_P69P,Missense_A115S exm5287 1 2125275 [T/C] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947,NM_001256946 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 EXON Missense_R87H,Missense_R46H,Synonymous_P91P,Silent,Silent,Silent,Synonymous_P91P,Synonymous_P194P,Missense_R46H,Synonymous_P91P exm5301 1 2125543 [A/G] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947,NM_001256946 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 EXON Silent,Silent,Missense_L31P,Silent,Silent,Silent,Missense_L31P,Missense_L134P,Silent,Missense_L31P exm5304 1 2129458 [T/G] NM_001146310,NM_001282670 FAAP20,FAAP20 EXON Missense_T58K,Missense_T120K exm5306 1 2129498 [A/G] NM_001146310,NM_001282670 FAAP20,FAAP20 EXON Missense_P45S,Missense_P107S rs7512482 1 2146966 [T/C] rs2460000 1 2156362 [A/G] exm5336 1 2160845 [A/G] NM_003036 SKI EXON Missense_S214G rs263526 1 2173504 [T/C] NM_003036 SKI Silent rs260513 1 2180524 [A/G] NM_003036 SKI Silent rs12084736 1 2189580 [T/C] NM_003036 SKI Silent rs903908 1 2202967 [T/C] NM_003036 SKI Silent rs10910047 1 2211849 [A/G] NM_003036 SKI Silent rs2017143 1 2220649 [T/C] NM_003036 SKI Silent rs903924 1 2221534 [A/G] NM_003036 SKI Silent rs884940 1 2223866 [T/C] NM_003036 SKI Silent exm5356 1 2234480 [A/G] NM_003036 SKI EXON Missense_A345T exm5368 1 2234791 [T/C] NM_003036 SKI EXON Missense_A388V exm5373 1 2234824 [T/C] NM_003036 SKI EXON Missense_A399V exm2232575 1 2235963 [T/C] NM_003036 SKI EXON Missense_M569T rs12082516 1 2251160 [T/C] exm1764513 1 2252827 [A/G] NM_024848 MORN1 EXON Missense_R497W exm5434 1 2252937 [T/C] NM_024848 MORN1 EXON Missense_R460Q exm5435 1 2252967 [T/C] NM_024848 MORN1 EXON Missense_R450H exm5436 1 2252970 [T/C] NM_024848 MORN1 EXON Missense_G449E exm2232597 1 2252973 [A/G] NM_024848 MORN1 EXON Missense_L448P exm5439 1 2253010 [T/C] NM_024848 MORN1 EXON Missense_V436M exm5445 1 2255569 [T/C] NM_024848 MORN1 EXON Missense_A422T rs2645065 1 2261222 [A/C] NM_024848 MORN1 Silent rs903904 1 2263888 [T/C] NM_024848 MORN1 Silent exm5454 1 2267935 [A/G] NM_024848 MORN1 EXON Missense_T408M exm5460 1 2268156 [G/C] NM_024848 MORN1 EXON Missense_K390N exm1765180 1 2268280 [T/C] NM_024848 MORN1 EXON Missense_H349R rs2055204 1 2280661 [A/G] NM_024848 MORN1 Silent rs7527871 1 2281726 [A/C] NM_024848 MORN1 Silent rs10910053 1 2282135 [A/G] NM_024848,NR_024489 MORN1,LOC100129534 EXON Silent,Silent rs4648831 1 2283117 [T/C] NM_024848,NR_024489 MORN1,LOC100129534 EXON Silent,Silent rs2843130 1 2283313 [G/C] NM_024848,NR_024489 MORN1,LOC100129534 EXON Silent,Silent rs2840528 1 2283896 [A/G] NM_024848,NR_024489 MORN1,LOC100129534 EXON Silent,Silent rs2645082 1 2284003 [T/C] NM_024848,NR_024489 MORN1,LOC100129534 EXON Silent,Silent rs3795272 1 2284195 [T/C] NM_024848 MORN1 Silent exm5476 1 2288949 [T/C] NM_024848,NM_001301060 MORN1,MORN1 EXON Missense_V320M,Missense_V320M exm1766442 1 2289030 [T/C] NM_024848,NM_001301060 MORN1,MORN1 EXON Missense_E293K,Missense_E293K exm5481 1 2290034 [A/G] NM_024848,NM_001301060 MORN1,MORN1 EXON Missense_P289L,Missense_P289L indel.309 1 2290107 [D/I] NM_024848,NM_001301060 MORN1,MORN1 EXON exm5488 1 2290143 [A/G] NM_024848,NM_001301060 MORN1,MORN1 EXON Missense_R253W,Missense_R253W exm5493 1 2304000 [T/G] NM_024848,NM_001301060 MORN1,MORN1 EXON Missense_P222Q,Missense_P222Q exm5497 1 2305918 [T/C] NM_024848,NM_001301060 MORN1,MORN1 EXON Missense_I206V,Missense_I206V exm5498 1 2305932 [T/G] NM_024848,NM_001301060 MORN1,MORN1 EXON Missense_Y201S,Missense_Y201S exm5500 1 2305965 [A/C] NM_024848,NM_001301060 MORN1,MORN1 EXON Missense_L190R,Missense_L190R rs2279703 1 2306695 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Silent,Silent,Silent rs2843160 1 2309082 [T/G] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Silent,Silent,Silent exm5515 1 2316485 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Missense_G157S,Missense_G157S,Silent exm2232754 1 2316488 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Missense_D156N,Missense_D156N,Silent exm5521 1 2317268 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Missense_G143S,Missense_G143S,Silent exm5537 1 2319711 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Missense_T72A,Missense_T72A,Silent exm5542 1 2319738 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Missense_E63K,Missense_E63K,Silent rs3736330 1 2327075 [T/C] NM_007033 RER1 Silent exm2268641 1 2327815 [T/C] NM_007033 RER1 Silent rs6693447 1 2330190 [T/G] NM_007033 RER1 Silent variant.313 1 2330953 [A/G] NM_007033 RER1 EXON Missense_D96N exm5583 1 2337219 [A/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_R323W,Missense_R343W exm5594 1 2338015 [T/C] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_T274A,Missense_T294A exm5596 1 2338023 [A/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_P271L,Missense_P291L exm5606 1 2338223 [C/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_G238R,Missense_G258R exm5612 1 2338313 [T/C] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_G208R,Missense_G228R exm5616 1 2338361 [T/C] NM_002617,NM_153818 PEX10,PEX10 EXON Silent,Missense_M212V rs2494427 1 2338569 [T/C] NM_002617,NM_153818 PEX10,PEX10 Silent,Silent exm5618 1 2339908 [A/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_L195F,Missense_L195F exm5631 1 2340159 [A/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_L111P,Missense_L111P rs3935659 1 2351699 [T/C] rs12731309 1 2352146 [T/C] rs10797423 1 2358944 [A/C] rs2494436 1 2359917 [T/C] rs7515934 1 2359940 [T/C] rs2494641 1 2362827 [T/C] rs6659405 1 2373089 [T/G] rs11581548 1 2379248 [A/G] rs867810 1 2381568 [A/G] rs4648845 1 2387101 [T/C] rs2477686 1 2392648 [C/G] rs4648636 1 2394226 [T/G] exm5658 1 2408058 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_R11W exm5673 1 2411245 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_S88N,Missense_S135N,Missense_S115N exm5674 1 2411250 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_D90N,Missense_D137N,Missense_D117N exm5682 1 2411376 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_D132N,Missense_D179N,Missense_D159N exm5684 1 2411636 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_T150M,Missense_T197M,Missense_T177M exm5691 1 2415891 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_A190V,Missense_A237V,Missense_A217V exm5697 1 2415977 [G/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_L219V,Missense_L266V,Missense_L246V exm5703 1 2418414 [C/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_K268N,Missense_K315N,Missense_K295N rs10910082 1 2418935 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 Silent,Silent,Silent exm2250942 1 2420787 [T/A] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Synonymous_P432P,Synonymous_P479P,Synonymous_P459P exm5742 1 2426313 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_V533M,Missense_V580M,Missense_V560M rs3762444 1 2427712 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 Silent,Silent,Silent exm2232890 1 2428054 [T/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_R588L,Missense_R635L,Missense_R615L exm5835 1 2435556 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_R1052Q exm5841 1 2435738 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_A1113T exm1771279 1 2435759 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_V1120M exm2277033 1 2435759 [T/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_V1120L exm5844 1 2435768 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_D1123N exm5861 1 2436024 [A/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_A1208D rs1107685 1 2439191 [A/G] exm5910 1 2440415 [A/G] NM_018216 PANK4 EXON Synonymous_H731H exm2250954 1 2440415 [A/G] NM_018216 PANK4 EXON Synonymous_H731H exm5918 1 2441358 [T/C] NM_018216 PANK4 EXON Missense_Q684R exm5932 1 2443106 [A/G] NM_018216 PANK4 EXON Missense_P582S rs2247308 1 2445406 [A/G] NM_018216 PANK4 Silent exm5956 1 2445838 [T/C] NM_018216 PANK4 EXON Missense_R481Q exm5974 1 2447128 [T/C] NM_018216 PANK4 EXON Missense_E416G exm5982 1 2449629 [T/G] NM_018216 PANK4 EXON Missense_P398T indel.338 1 2450734 [D/I] NM_018216 PANK4 EXON exm6004 1 2451257 [G/C] NM_018216 PANK4 EXON Missense_S279W exm6013 1 2451846 [A/G] NM_018216 PANK4 EXON Missense_T205M exm6017 1 2452248 [T/C] NM_018216 PANK4 EXON Missense_D174N exm2277034 1 2452744 [T/C] NM_018216 PANK4 EXON Missense_R73H exm6031 1 2452750 [A/G] NM_018216 PANK4 EXON Missense_T71I exm6036 1 2453162 [T/C] NM_018216 PANK4 EXON Missense_G68R rs2494625 1 2454709 [T/C] NM_018216 PANK4 Silent exm6051 1 2458010 [G/C] NM_018216 PANK4 EXON Missense_A6G exm2250972 1 2461316 [T/C] NM_001010926 HES5 EXON Synonymous_E63E rs11584295 1 2465329 [A/G] rs2495368 1 2473258 [A/G] exm6077 1 2488153 [A/G] NR_037844,NM_001297605,NM_003820 TNFRSF14-AS1,TNFRSF14,TNFRSF14 EXON Silent,Missense_K17R,Missense_K17R exm6103 1 2491306 [A/G] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Missense_A117T,Missense_A117T exm6115 1 2491400 [T/A] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Missense_Q148L,Missense_Q148L exm6121 1 2492123 [A/G] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Missense_G174E,Missense_G174E exm2251018 1 2493130 [A/G] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Silent,Synonymous_T190T exm6129 1 2493158 [T/C] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Silent,Missense_H200Y rs2234167 1 2494330 [A/G] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Silent,Missense_V241I exm6141 1 2494330 [A/G] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Silent,Missense_V241I rs6667605 1 2502780 [T/C] NR_121638 LOC100996583 Silent rs2260965 1 2504733 [A/G] NR_121638 LOC100996583 Silent exm-rs734999 1 2513216 [T/C] NR_121638 LOC100996583 Silent exm6165 1 2518683 [T/C] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Missense_P73S,Missense_P73S,Missense_P73S,Missense_P73S,Missense_P73S,Missense_P73S exm6173 1 2519975 [A/C] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Silent,Silent,Silent,Missense_P131T,Silent,Silent exm6175 1 2519989 [T/G] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Missense_A147S,Missense_A129S,Silent,Missense_R135S,Silent,Missense_A129S exm6185 1 2520428 [A/C] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Synonymous_I194I,Synonymous_I176I,Synonymous_I139I,Synonymous_I172I,Synonymous_I140I,Missense_P166T exm6198 1 2522473 [A/G] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738,NM_033467 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,MMEL1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R766W exm6209 1 2523015 [A/G] NM_033467 MMEL1 EXON Missense_H741Y exm6212 1 2523053 [T/C] NM_033467 MMEL1 EXON Missense_R728Q exm6216 1 2523412 [T/C] NM_033467 MMEL1 EXON Missense_D708N exm6217 1 2523418 [T/C] NM_033467 MMEL1 EXON Missense_G706S exm6219 1 2523431 [T/G] NM_033467 MMEL1 EXON Missense_D701E exm6220 1 2524105 [T/G] NM_033467 MMEL1 EXON Missense_Q686K exm6222 1 2524107 [T/C] NM_033467 MMEL1 EXON Missense_R685Q exm6224 1 2524128 [A/G] NM_033467 MMEL1 EXON Missense_I678T exm6231 1 2524295 [A/G] NM_033467 MMEL1 EXON Missense_W660R exm6234 1 2524402 [T/C] NM_033467 MMEL1 EXON Missense_R624Q exm6237 1 2525259 [T/C] NM_033467 MMEL1 EXON Missense_D621N exm6243 1 2525332 [A/C] NM_033467 MMEL1 EXON Missense_K596N exm6253 1 2526245 [T/A] NM_033467 MMEL1 EXON Nonsense_K558X rs3748816 1 2526746 [A/G] NM_033467 MMEL1 EXON Missense_M518T exm6264 1 2526746 [A/G] NM_033467 MMEL1 EXON Missense_M518T rs2843401 1 2528133 [T/C] NM_033467 MMEL1 Silent exm6296 1 2530169 [T/G] NM_033467 MMEL1 EXON Missense_P368T indel.358 1 2530212 [D/I] NM_033467 MMEL1 EXON variant.359 1 2530219 [T/C] NM_033467 MMEL1 EXON Nonsense_W351X rs2985859 1 2532416 [T/C] NM_033467 MMEL1 Silent exm6301 1 2535397 [C/G] NM_033467 MMEL1 EXON Missense_E323Q exm6305 1 2535632 [T/C] NM_033467 MMEL1 EXON Missense_Q302R exm6307 1 2535648 [C/G] NM_033467 MMEL1 EXON Missense_D297H exm6311 1 2535717 [A/G] NM_033467 MMEL1 EXON Missense_R274W exm6317 1 2537041 [T/G] NM_033467 MMEL1 EXON Missense_M258L exm6320 1 2537700 [T/C] NM_033467 MMEL1 EXON Missense_R246Q exm6322 1 2537748 [T/C] NM_033467 MMEL1 EXON Missense_R230H exm6325 1 2537787 [T/C] NM_033467 MMEL1 EXON Missense_E217G exm2268642 1 2539006 [T/C] NM_033467 MMEL1 Silent exm6336 1 2540795 [T/C] NM_033467 MMEL1 EXON Missense_R173H exm6340 1 2541133 [T/C] NM_033467 MMEL1 EXON Missense_D144N exm6343 1 2541189 [T/C] NM_033467 MMEL1 EXON Missense_R125Q exm6347 1 2541237 [A/G] NM_033467 MMEL1 EXON Missense_T109M exm6350 1 2541268 [T/C] NM_033467 MMEL1 EXON Missense_A99T exm6351 1 2541269 [A/G] NM_033467 MMEL1 EXON Synonymous_A98A exm6352 1 2542778 [T/C] NM_033467 MMEL1 EXON Synonymous_G78G rs10752748 1 2544640 [A/G] NM_033467 MMEL1 Silent rs12117343 1 2551785 [T/C] NM_033467 MMEL1 Silent exm-rs3890745 1 2553624 [T/C] NM_033467 MMEL1 Silent exm6361 1 2560808 [A/G] NM_033467 MMEL1 EXON Missense_A39V exm6362 1 2560818 [T/C] NM_033467 MMEL1 EXON Missense_V36M kgp10938344 1 2564465 [T/C] NM_033467 MMEL1 EXON Silent rs28733388 1 2587026 [A/C] NM_001242672 TTC34 Silent rs4648390 1 2700372 [T/C] NM_001242672 TTC34 Silent rs2377041 1 2713327 [T/C] rs4648384 1 2756621 [A/C] rs12049543 1 2761375 [A/C] rs1456460 1 2761863 [T/G] rs12409348 1 2779043 [T/C] rs897636 1 2784092 [A/G] rs10909793 1 2794551 [T/G] rs10797342 1 2797856 [T/C] rs3100865 1 2806107 [T/G] exm2268859 1 2806107 [T/G] rs2842910 1 2817421 [T/C] rs880725 1 2824989 [A/G] rs7340016 1 2833332 [A/G] rs4648432 1 2839757 [A/C] rs2045331 1 2842270 [A/G] rs12403214 1 2849190 [T/G] rs4648441 1 2850181 [T/G] rs10797368 1 2852707 [T/C] rs16823228 1 2853759 [A/G] rs7539511 1 2862320 [T/G] rs7541664 1 2865901 [T/C] rs2606418 1 2870850 [A/G] rs2485944 1 2883858 [T/C] rs2485945 1 2883932 [T/C] rs12044030 1 2889577 [T/C] rs12046158 1 2891713 [T/C] rs6681741 1 2898960 [T/C] rs12025260 1 2917377 [T/C] rs6424066 1 2919222 [T/C] rs12022429 1 2919942 [A/G] rs12562637 1 2924666 [T/C] exm6380 1 2938266 [A/G] NM_080431 ACTRT2 EXON Missense_A6T exm6385 1 2938395 [A/G] NM_080431 ACTRT2 EXON Missense_A49T exm6394 1 2938506 [A/G] NM_080431 ACTRT2 EXON Missense_V86M exm6395 1 2938507 [T/C] NM_080431 ACTRT2 EXON Missense_V86A exm6413 1 2938800 [A/G] NM_080431 ACTRT2 EXON Missense_V184M exm6419 1 2938887 [A/G] NM_080431 ACTRT2 EXON Missense_V213M exm6421 1 2938924 [T/G] NM_080431 ACTRT2 EXON Missense_L225W exm6428 1 2938989 [A/G] NM_080431 ACTRT2 EXON Missense_G247R exm6439 1 2939260 [A/G] NM_080431 ACTRT2 EXON Missense_R337Q rs12564513 1 2939409 [T/G] NM_080431 ACTRT2 EXON Silent rs7412983 1 2943183 [A/C] rs2142569 1 2944527 [A/G] rs717795 1 2970464 [T/C] rs760567 1 3000465 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs6695131 1 3000924 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs926244 1 3006283 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7543737 1 3009969 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2817168 1 3013690 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2993493 1 3020246 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs1890336 1 3024265 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs6690373 1 3035227 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2817178 1 3047252 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs10909882 1 3049713 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2235176 1 3054106 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs731031 1 3072692 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2651902 1 3074306 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2742673 1 3080019 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2651899 1 3083712 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm-rs2651899 1 3083712 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2651935 1 3086496 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2651927 1 3101762 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm6449 1 3102700 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_V17I,Missense_V17I exm6451 1 3102751 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_A34T,Missense_A34T rs10752733 1 3104630 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7539775 1 3109151 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm2260168 1 3111669 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs10909895 1 3113680 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs10909901 1 3131235 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2817146 1 3133439 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2651897 1 3137397 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs6424069 1 3147030 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs10909905 1 3147899 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs11807062 1 3153237 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7539489 1 3169088 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs3002686 1 3178111 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2455107 1 3180158 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2455125 1 3189006 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs905135 1 3199484 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs4648377 1 3211458 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2455144 1 3214732 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2455137 1 3217151 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2455135 1 3219901 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs6673393 1 3220101 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs12409345 1 3228915 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483266 1 3236041 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2500271 1 3241829 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483274 1 3248098 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483279 1 3252169 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7516150 1 3253889 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7552331 1 3253941 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs882430 1 3259113 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483289 1 3264190 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7524171 1 3279324 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm-rs6658356 1 3280253 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs4648487 1 3285304 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs1538693 1 3294972 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs12085231 1 3297638 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm2263811 1 3297799 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs17399998 1 3305016 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2493278 1 3307746 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs871822 1 3312914 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs6424074 1 3317780 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs11578011 1 3318532 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm2233195 1 3319384 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_D236N,Missense_D236N exm6506 1 3321352 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_D312N,Missense_D312N rs2483225 1 3325037 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm6524 1 3327949 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Synonymous_C396C,Synonymous_C396C exm6534 1 3328187 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_P476S,Missense_P476S exm1794873 1 3328298 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_G513S,Missense_G513S exm2233200 1 3328327 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_L522F,Missense_L522F exm6548 1 3328358 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_S533P,Missense_S533P exm6556 1 3328445 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_V562I,Missense_V562I exm6558 1 3328467 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_T569M,Missense_T569M exm6561 1 3328487 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_E576K,Missense_E576K exm6563 1 3328555 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_M598I,Missense_M598I exm6570 1 3328593 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_T611M,Missense_T611M exm6573 1 3328623 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_T621M,Missense_T621M exm6574 1 3328643 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_D628N,Missense_D628N exm6576 1 3328659 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_P633L,Missense_P633L exm6589 1 3328887 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_M709T,Missense_M709T exm6603 1 3329042 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_A761T,Missense_A761T exm6605 1 3329051 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_V764M,Missense_V764M exm6607 1 3329057 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_G766S,Missense_G766S exm6628 1 3331183 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_R888Q,Missense_R888Q exm6629 1 3331186 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_P889L,Missense_P889L exm6635 1 3334441 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_M914T,Missense_M914T rs2244013 1 3342530 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm6665 1 3342635 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_L1044F,Missense_L1044F exm6666 1 3342659 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_A1052T,Missense_A1052T exm2233206 1 3342726 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_S1074L,Missense_S1074L exm6674 1 3342788 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_R1095W,Missense_R1095W exm6686 1 3347578 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_V1143M,Missense_V1143M exm6695 1 3348552 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_G1182S,Missense_G1182S exm6699 1 3348629 [A/T] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_E1207D,Missense_E1207D rs2493272 1 3349513 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs1537406 1 3352227 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Silent,Silent rs867814 1 3362256 [T/C] rs2487670 1 3368143 [A/G] rs2487680 1 3377442 [T/C] NM_014448 ARHGEF16 Silent exm6722 1 3380057 [A/G] NM_014448 ARHGEF16 EXON Missense_V137M exm6750 1 3389703 [A/G] NM_014448 ARHGEF16 EXON Missense_I362V exm6752 1 3389718 [T/G] NM_014448 ARHGEF16 EXON Missense_A367S exm6755 1 3389757 [A/G] NM_014448 ARHGEF16 EXON Missense_N380D exm6767 1 3391324 [A/G] NM_014448 ARHGEF16 EXON Missense_R453H exm6771 1 3392574 [A/G] NM_014448 ARHGEF16 EXON Missense_R474H rs12124163 1 3393037 [T/G] NM_014448 ARHGEF16 Silent exm6782 1 3394533 [A/G] NM_014448 ARHGEF16 EXON Missense_R523Q exm6784 1 3394541 [T/A] NM_014448 ARHGEF16 EXON Missense_C526S exm6790 1 3395002 [T/C] NM_014448 ARHGEF16 EXON Missense_M547T exm6792 1 3395016 [A/G] NM_014448 ARHGEF16 EXON Missense_A552T exm6793 1 3395020 [A/G] NM_014448 ARHGEF16 EXON Missense_Q553R exm6806 1 3395176 [T/C] NM_014448 ARHGEF16 EXON Missense_A605V exm2273605 1 3396420 [A/G] NM_014448 ARHGEF16 EXON Missense_A645T exm6818 1 3396465 [T/C] NM_014448 ARHGEF16 EXON Nonsense_Q660X exm6824 1 3397062 [A/G] NM_014448 ARHGEF16 EXON Missense_E681K exm6833 1 3407112 [T/C] NM_001409 MEGF6 EXON Missense_G1536S exm2233224 1 3409214 [A/G] NM_001409 MEGF6 EXON Missense_T1502M exm6842 1 3409272 [T/C] NM_001409 MEGF6 EXON Missense_A1483T exm6847 1 3410410 [T/C] NM_001409 MEGF6 EXON Missense_G1438R exm6852 1 3410644 [A/G] NM_001409 MEGF6 EXON Missense_W1392R exm6858 1 3410935 [A/G] NM_001409 MEGF6 EXON Missense_P1377S exm2251433 1 3410942 [A/G] NM_001409 MEGF6 EXON Synonymous_C1374C exm6861 1 3410973 [T/C] NM_001409 MEGF6 EXON Missense_R1364H exm6862 1 3410980 [T/G] NM_001409 MEGF6 EXON Missense_T1362P exm1796453 1 3412483 [A/G] NM_001409 MEGF6 EXON Missense_P1281L exm1796454 1 3412567 [T/C] NM_001409 MEGF6 EXON Missense_R1253H exm6888 1 3413233 [A/G] NM_001409 MEGF6 EXON Missense_T1243M exm1796486 1 3413684 [A/C] NM_001409 MEGF6 Silent exm1796505 1 3413902 [T/C] NM_001409 MEGF6 EXON Missense_E1126K exm6926 1 3415357 [T/C] NM_001409 MEGF6 EXON Missense_R1043Q exm2251438 1 3415712 [A/G] NM_001409 MEGF6 EXON Synonymous_S1028S exm6936 1 3416173 [A/G] NM_001409 MEGF6 EXON Missense_R982W exm6940 1 3416227 [T/C] NM_001409 MEGF6 EXON Missense_A964T exm6947 1 3416449 [A/C] NM_001409 MEGF6 EXON Missense_R916L rs7553399 1 3416449 [A/C] NM_001409 MEGF6 EXON Missense_R916L exm6953 1 3417211 [A/G] NM_001409 MEGF6 EXON Missense_P898L exm6954 1 3417218 [T/C] NM_001409 MEGF6 EXON Missense_V896M exm6956 1 3417275 [T/C] NM_001409 MEGF6 EXON Missense_A877T exm6959 1 3417545 [A/G] NM_001409 MEGF6 EXON Missense_F854L exm6963 1 3417622 [A/G] NM_001409 MEGF6 EXON Missense_T828I exm6965 1 3417742 [A/G] NM_001409 MEGF6 EXON Synonymous_D815D exm6966 1 3417747 [A/G] NM_001409 MEGF6 EXON Nonsense_Q814X exm6967 1 3417762 [T/C] NM_001409 MEGF6 EXON Missense_V809I exm6978 1 3418399 [A/G] NM_001409 MEGF6 EXON Missense_R759W exm6986 1 3418462 [T/C] NM_001409 MEGF6 EXON Missense_V738M exm6998 1 3421897 [A/G] NM_001409 MEGF6 EXON Missense_L688P rs2821008 1 3421897 [A/G] NM_001409 MEGF6 EXON Missense_L688P rs947344 1 3423467 [T/C] NM_001409 MEGF6 Silent exm7018 1 3424379 [T/C] NM_001409 MEGF6 EXON Missense_S590N exm7020 1 3424388 [A/G] NM_001409 MEGF6 EXON Missense_P587L exm7025 1 3424419 [T/C] NM_001409 MEGF6 EXON Missense_D577N exm7035 1 3425238 [A/G] NM_001409 MEGF6 EXON Missense_S515F exm7042 1 3425722 [A/G] NM_001409 MEGF6 EXON Missense_P482L exm7049 1 3425797 [A/G] NM_001409 MEGF6 EXON Missense_P457L exm7055 1 3426533 [A/G] NM_001409 MEGF6 EXON Missense_R420C exm7076 1 3428144 [T/C] NM_001409 MEGF6 EXON Missense_E362K exm7090 1 3428591 [T/C] NM_001409 MEGF6 EXON Missense_A319T exm7101 1 3431134 [A/G] NM_001409 MEGF6 EXON Missense_A278V exm7102 1 3431138 [A/C] NM_001409 MEGF6 EXON Missense_A277S exm7104 1 3431168 [A/G] NM_001409 MEGF6 EXON Missense_R267C exm7112 1 3431235 [A/C] NM_001409 MEGF6 EXON Synonymous_R244R exm7117 1 3432025 [T/C] NM_001409 MEGF6 EXON Missense_R224Q exm7118 1 3432044 [T/C] NM_001409 MEGF6 EXON Missense_V218I exm7121 1 3432077 [T/C] NM_001409 MEGF6 EXON Missense_A207T exm7124 1 3440718 [A/G] NM_001409 MEGF6 EXON Missense_R192W exm7127 1 3440753 [A/G] NM_001409 MEGF6 EXON Missense_P180L exm7130 1 3440795 [A/C] NM_001409 MEGF6 EXON Missense_R166L exm7131 1 3440796 [A/G] NM_001409 MEGF6 EXON Nonsense_R166X rs10797400 1 3450637 [A/C] NM_001409 MEGF6 Silent rs12119711 1 3451005 [T/C] NM_001409 MEGF6 Silent rs2821060 1 3477902 [T/C] NM_001409 MEGF6 Silent rs2821054 1 3493850 [T/G] NM_001409 MEGF6 Silent exm7145 1 3496479 [T/C] NM_001409 MEGF6 EXON Missense_S131G rs10909974 1 3499067 [T/C] NM_001409 MEGF6 Silent rs2995009 1 3500575 [A/G] NM_001409 MEGF6 Silent rs4648527 1 3507861 [A/G] NM_001409 MEGF6 Silent rs6697749 1 3510633 [A/C] NM_001409 MEGF6 Silent exm7149 1 3511934 [A/G] NM_001409 MEGF6 EXON Missense_M115T exm7155 1 3511994 [T/C] NM_001409 MEGF6 EXON Missense_G95D rs2821017 1 3520871 [A/G] NM_001409 MEGF6 Silent rs35701577 1 3522561 [T/C] NM_001409 MEGF6 Silent rs4364818 1 3538501 [T/C] rs10909990 1 3539481 [A/G] rs12757620 1 3540024 [T/G] exm7185 1 3542306 [A/G] NM_182752 TPRG1L EXON Missense_R108Q exm7186 1 3542312 [T/G] NM_182752 TPRG1L EXON Missense_V110G indel.400 1 3542386 [I/D] NM_182752 TPRG1L EXON newrs148462952 1 3542422 [T/G] NM_182752 TPRG1L EXON Nonsense_E147X variant.402 1 3542458 [A/G] NM_182752 TPRG1L Silent rs16823920 1 3542969 [A/G] NM_182752 TPRG1L Silent variant.403 1 3544065 [T/C] NM_182752 TPRG1L EXON Nonsense_R158X exm7204 1 3544991 [G/C] NM_182752 TPRG1L EXON Missense_L215V variant.405 1 3544995 [T/G] NM_182752 TPRG1L EXON Nonsense_L216X exm7205 1 3545054 [A/G] NM_182752 TPRG1L EXON Missense_V236M rs1128474 1 3545612 [A/G] NM_182752 TPRG1L EXON Silent exm7240 1 3548110 [T/C] NM_017818 WRAP73 EXON Missense_R387Q exm7242 1 3548122 [A/G] NM_017818 WRAP73 EXON Missense_P383L exm7249 1 3548198 [T/C] NM_017818 WRAP73 EXON Missense_V358I exm7253 1 3548832 [G/C] NM_017818 WRAP73 EXON Missense_I331M exm7274 1 3551592 [G/C] NM_017818 WRAP73 EXON Missense_G262A exm7276 1 3551605 [T/G] NM_017818 WRAP73 EXON Missense_I258L exm7281 1 3551737 [T/C] NM_017818 WRAP73 EXON Missense_S242N exm1798684 1 3551783 [T/C] NM_017818 WRAP73 EXON Missense_K227E rs7528494 1 3558228 [T/C] NM_017818 WRAP73 Silent exm7323 1 3564105 [T/C] NM_017818 WRAP73 EXON Missense_R30Q rs2251098 1 3566706 [A/G] rs10910003 1 3575929 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs2224718 1 3576060 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs1009345 1 3586428 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs3765695 1 3587377 [A/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs3765703 1 3592436 [T/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs3765716 1 3601940 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs3765731 1 3611892 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12032272 1 3615156 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3765736 1 3616601 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6424089 1 3628663 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3753211 1 3632608 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3819967 1 3633380 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.409 1 3643747 [D/I] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON exm7380 1 3644322 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_A325T,Missense_A325T,Missense_A325T,Missense_A325T,Missense_A325T,Missense_A325T,Missense_A276T,Missense_A276T,Missense_A276T,Missense_A276T,Missense_A276T,Missense_A276T,Missense_A254T exm7399 1 3645901 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_R362Q,Missense_R362Q,Missense_R362Q,Missense_R362Q,Missense_R362Q,Missense_R362Q,Missense_R313Q,Missense_R313Q,Missense_R313Q,Missense_R313Q,Missense_R313Q,Missense_R313Q,Missense_R291Q rs1885865 1 3646291 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm7419 1 3648066 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Synonymous_Y412Y,Synonymous_Y508Y,Silent,Silent,Silent,Missense_F459L,Missense_F410L,Synonymous_Y363Y,Silent,Silent,Synonymous_Y459Y,Silent,Synonymous_Y437Y rs4648553 1 3648879 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1799309 1 3649503 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_R495C,Missense_R591C,Missense_R510C,Silent,Silent,Silent,Silent,Missense_R446C,Silent,Silent,Missense_R542C,Missense_R461C,Missense_R520C exm7442 1 3649542 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_G508S,Missense_G604S,Missense_G523S,Silent,Silent,Silent,Silent,Missense_G459S,Silent,Silent,Missense_G555S,Missense_G474S,Missense_G533S rs9662633 1 3649562 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Synonymous_A514A,Synonymous_A610A,Synonymous_A529A,Silent,Silent,Silent,Silent,Synonymous_A465A,Silent,Silent,Synonymous_A561A,Synonymous_A480A,Synonymous_A539A exm7447 1 3649608 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_I530V,Missense_I626V,Missense_I545V,Silent,Silent,Silent,Silent,Missense_I481V,Silent,Silent,Missense_I577V,Missense_I496V,Missense_I555V rs12562437 1 3651031 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10910018 1 3651409 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12117836 1 3657759 [A/G] NR_033712,NR_033710,NR_033711,NR_033708,NR_033709 TP73-AS1,TP73-AS1,TP73-AS1,TP73-AS1,TP73-AS1 Silent,Silent,Silent,Silent,Silent rs2298222 1 3659657 [A/G] NR_033712,NR_033710,NR_033711,NR_033708,NR_033709 TP73-AS1,TP73-AS1,TP73-AS1,TP73-AS1,TP73-AS1 EXON Silent,Silent,Silent,Silent,Silent exm7483 1 3669100 [T/C] NM_152492 CCDC27 EXON Missense_R19W exm7485 1 3669106 [A/G] NM_152492 CCDC27 EXON Missense_K21E exm7490 1 3669205 [C/G] NM_152492 CCDC27 EXON Missense_Q54E exm2233284 1 3669271 [T/C] NM_152492 CCDC27 EXON Missense_R76W exm7497 1 3669281 [A/G] NM_152492 CCDC27 EXON Missense_R79Q exm7501 1 3669329 [T/C] NM_152492 CCDC27 EXON Missense_S95L exm7504 1 3669356 [A/G] NM_152492 CCDC27 EXON Missense_R104K exm7506 1 3669362 [T/C] NM_152492 CCDC27 EXON Missense_T106M exm7509 1 3670691 [A/G] NM_152492 CCDC27 EXON Missense_K110E exm7512 1 3670712 [A/G] NM_152492 CCDC27 EXON Missense_G117S exm7520 1 3672032 [T/G] NM_152492 CCDC27 EXON Nonsense_E152X exm7522 1 3672048 [A/G] NM_152492 CCDC27 EXON Missense_G157E exm7529 1 3672108 [A/G] NM_152492 CCDC27 EXON Missense_R177Q variant.420 1 3673314 [A/C] NM_152492 CCDC27 EXON Missense_S191R newrs150537276 1 3673329 [T/G] NM_152492 CCDC27 EXON Nonsense_E196X exm2251521 1 3677854 [T/C] NM_152492 CCDC27 EXON Synonymous_L241L exm7551 1 3677933 [T/C] NM_152492 CCDC27 EXON Missense_M267T exm7554 1 3677983 [T/C] NM_152492 CCDC27 EXON Missense_P284S exm7560 1 3679203 [T/C] NM_152492 CCDC27 EXON Missense_S294L exm2251522 1 3679252 [A/G] NM_152492 CCDC27 EXON Synonymous_E310E exm7567 1 3679694 [T/C] NM_152492 CCDC27 EXON Missense_P326L exm7574 1 3679775 [T/C] NM_152492 CCDC27 EXON Missense_T353M exm7575 1 3679783 [T/C] NM_152492 CCDC27 EXON Missense_W356R exm7582 1 3679925 [T/C] NM_152492 CCDC27 EXON Missense_L403P exm7586 1 3679934 [T/C] NM_152492 CCDC27 EXON Missense_S406L exm7593 1 3680279 [T/C] NM_152492 CCDC27 EXON Missense_A444V exm7596 1 3680333 [T/C] NM_152492 CCDC27 EXON Missense_T462M exm7598 1 3680345 [T/C] NM_152492 CCDC27 EXON Missense_T466M exm7600 1 3680362 [T/C] NM_152492 CCDC27 EXON Nonsense_R472X exm7601 1 3680368 [T/C] NM_152492 CCDC27 EXON Missense_R474W exm7602 1 3680369 [A/G] NM_152492 CCDC27 EXON Missense_R474Q exm7603 1 3680377 [G/C] NM_152492 CCDC27 EXON Missense_Q477E exm7604 1 3680383 [A/C] NM_152492 CCDC27 EXON Missense_Q479K rs1181874 1 3682070 [A/C] NM_152492 CCDC27 Silent exm7610 1 3683137 [C/G] NM_152492 CCDC27 EXON Missense_M497I exm7611 1 3683159 [A/C] NM_152492 CCDC27 EXON Missense_N505H exm7617 1 3683914 [T/A] NM_152492 CCDC27 EXON Missense_W550R exm7623 1 3684005 [A/C] NM_152492 CCDC27 EXON Missense_S580Y exm2273606 1 3686350 [A/G] NM_152492 CCDC27 EXON Missense_E583K variant.429 1 3686357 [T/G] NM_152492 CCDC27 EXON Nonsense_L585X exm7635 1 3688053 [T/G] NM_152492 CCDC27 EXON Missense_L646R exm1799627 1 3688073 [A/G] NM_152492 CCDC27 EXON Missense_G653R rs1175549 1 3691727 [A/C] NM_001288583,NM_001163724 SMIM1,SMIM1 Silent,Silent rs12061931 1 3696356 [T/C] exm7644 1 3697663 [T/C] NM_020710 LRRC47 EXON Missense_V581I exm7645 1 3697669 [C/G] NM_020710 LRRC47 EXON Missense_V579L exm7647 1 3697675 [G/C] NM_020710 LRRC47 EXON Missense_P577A var_1_3698166 1 3698166 [T/C] NM_020710 LRRC47 Silent variant.434 1 3699220 [T/C] NM_020710 LRRC47 Silent exm7668 1 3700579 [A/T] NM_020710 LRRC47 EXON Missense_S431C exm7684 1 3703430 [A/G] NM_020710 LRRC47 EXON Missense_R354C exm7692 1 3703589 [T/C] NM_020710 LRRC47 EXON Missense_V301M exm7703 1 3703715 [A/G] NM_020710 LRRC47 EXON Missense_R259C rs12728911 1 3709412 [T/C] NM_020710 LRRC47 Silent rs7513053 1 3709487 [A/G] NM_020710 LRRC47 Silent rs6662706 1 3732596 [T/G] NM_014704 CEP104 Silent exm7758 1 3732862 [A/C] NM_014704 CEP104 EXON Missense_A882S exm7759 1 3732885 [T/C] NM_014704 CEP104 EXON Missense_R874H exm7762 1 3739740 [T/C] NM_014704 CEP104 EXON Missense_E857K exm1800028 1 3739745 [T/C] NM_014704 CEP104 EXON Missense_G855E variant.436 1 3739988 [A/G] NM_014704 CEP104 EXON Missense_P835S exm7767 1 3740068 [T/C] NM_014704 CEP104 EXON Missense_G808E exm1800032 1 3740089 [A/G] NM_014704 CEP104 EXON Missense_T801M rs12759497 1 3742257 [T/C] NM_014704 CEP104 Silent exm7776 1 3742955 [A/G] NM_014704 CEP104 EXON Missense_P745L variant.437 1 3743271 [A/C] NM_014704 CEP104 Silent exm7783 1 3743278 [T/C] NM_014704 CEP104 EXON Missense_N728D rs6663840 1 3743319 [A/G] NM_014704 CEP104 Silent exm7791 1 3745924 [A/G] NM_014704 CEP104 EXON Missense_A686V rs2275831 1 3745924 [A/G] NM_014704 CEP104 EXON Missense_A686V exm7796 1 3746432 [A/G] NM_014704 CEP104 EXON Missense_R656C exm7800 1 3746504 [T/C] NM_014704 CEP104 EXON Missense_I632V rs6424058 1 3747580 [T/C] NM_014704 CEP104 Silent exm7813 1 3747626 [A/G] NM_014704 CEP104 EXON Missense_I607T exm7818 1 3750449 [T/C] NM_014704 CEP104 EXON Missense_V546I exm7821 1 3750491 [T/C] NM_014704 CEP104 EXON Missense_V532I variant.438 1 3751489 [A/G] NM_014704 CEP104 EXON Synonymous_S495S exm7833 1 3751634 [A/G] NM_014704 CEP104 EXON Missense_T447M exm7840 1 3753079 [T/C] NM_014704 CEP104 EXON Missense_D433N exm7844 1 3753136 [A/T] NM_014704 CEP104 EXON Missense_L414I exm7845 1 3753150 [T/C] NM_014704 CEP104 EXON Missense_R409Q exm7846 1 3753157 [T/C] NM_014704 CEP104 EXON Missense_D407N exm7848 1 3753207 [T/C] NM_014704 CEP104 EXON Missense_H390R exm7850 1 3753856 [A/G] NM_014704 CEP104 EXON Synonymous_N373N exm7856 1 3753972 [A/G] NM_014704 CEP104 EXON Nonsense_Q335X exm7859 1 3754043 [T/C] NM_014704 CEP104 EXON Missense_R311H variant.443 1 3755660 [A/C] NM_014704 CEP104 EXON Nonsense_Y253X exm7874 1 3756242 [T/C] NM_014704 CEP104 EXON Missense_R222Q exm7875 1 3756243 [A/G] NM_014704 CEP104 EXON Missense_R222W exm7876 1 3756281 [T/C] NM_014704 CEP104 EXON Missense_E209G exm7877 1 3756295 [T/C] NM_014704 CEP104 EXON Missense_M204I variant.444 1 3756342 [T/C] NM_014704 CEP104 Silent rs12744607 1 3757749 [A/G] NM_014704 CEP104 Silent exm7891 1 3761485 [T/A] NM_014704 CEP104 EXON Missense_E184D exm7892 1 3761487 [G/C] NM_014704 CEP104 EXON Missense_E184Q variant.445 1 3761541 [A/G] NM_014704 CEP104 EXON Nonsense_R166X exm7894 1 3761547 [A/C] NM_014704 CEP104 EXON Missense_A164S exm7898 1 3764049 [A/G] NM_014704 CEP104 EXON Missense_I139T exm7900 1 3764134 [A/G] NM_014704 CEP104 EXON Missense_R111W exm7901 1 3764173 [T/C] NM_014704 CEP104 EXON Missense_V98M exm7905 1 3765181 [T/C] NM_014704 CEP104 EXON Missense_R93Q exm7906 1 3765187 [T/C] NM_014704 CEP104 EXON Missense_R91Q exm7907 1 3765188 [A/G] NM_014704 CEP104 EXON Missense_R91W exm2251546 1 3765282 [T/C] NM_014704 CEP104 EXON Synonymous_L59L exm7915 1 3768920 [T/C] NM_014704 CEP104 EXON Missense_G18S rs4648426 1 3773089 [T/C] NM_014704 CEP104 Silent exm7929 1 3775337 [T/A] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Missense_E57V,Silent,Silent,Missense_E57V,Silent,Silent,Silent,Silent exm7930 1 3775348 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Missense_P61S,Silent,Silent,Missense_P61S,Silent,Silent,Silent,Silent exm7949 1 3782525 [A/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Missense_A155T,Missense_A67T,Missense_A82T,Missense_A131T,Silent,Silent,Silent,Silent variant.448 1 3784549 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Nonsense_R172X,Nonsense_R84X,Nonsense_R99X,Nonsense_R148X,Silent,Silent,Silent,Silent indel.451 1 3789042 [I/D] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON exm7983 1 3789061 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Missense_L260S,Missense_L172S,Missense_L187S,Missense_L236S,Silent,Silent,Silent,Silent exm7984 1 3789087 [A/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Missense_S269G,Missense_S181G,Missense_S196G,Missense_S245G,Silent,Silent,Silent,Silent rs12756705 1 3789852 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6668103 1 3793324 [A/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4074709 1 3796948 [T/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12039666 1 3797964 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2233302 1 3800118 [A/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Missense_K301R,Missense_K213R,Missense_K228R,Missense_K277R,Silent,Silent,Silent,Silent exm7994 1 3800297 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Missense_R361C,Missense_R273C,Missense_R288C,Missense_R337C,Silent,Silent,Silent,Silent rs7367066 1 3803755 [T/C] rs7530189 1 3805098 [T/C] rs10909819 1 3806358 [T/C] NM_207356 C1orf174 EXON Silent exm8001 1 3806544 [T/C] NM_207356 C1orf174 EXON Missense_D238N variant.453 1 3806595 [A/G] NM_207356 C1orf174 EXON Nonsense_R221X exm8005 1 3806595 [A/G] NM_207356 C1orf174 EXON Nonsense_R221X exm8006 1 3806610 [T/G] NM_207356 C1orf174 EXON Missense_P216T exm8010 1 3806624 [A/G] NM_207356 C1orf174 EXON Missense_A211V rs12073945 1 3806973 [A/G] NM_207356 C1orf174 Silent indel.454 1 3807229 [I/D] NM_207356 C1orf174 EXON exm8021 1 3807291 [T/C] NM_207356 C1orf174 EXON Missense_N154D exm8024 1 3807312 [T/C] NM_207356 C1orf174 EXON Missense_G147R exm2273607 1 3807344 [G/C] NM_207356 C1orf174 EXON Missense_R136T exm8030 1 3807359 [T/C] NM_207356 C1orf174 EXON Missense_R131H exm8031 1 3807360 [A/G] NM_207356 C1orf174 EXON Missense_R131C exm8035 1 3807432 [T/C] NM_207356 C1orf174 EXON Missense_E107K exm8036 1 3807450 [A/C] NM_207356 C1orf174 EXON Missense_A101S exm8037 1 3807482 [T/G] NM_207356 C1orf174 EXON Missense_T90N exm8039 1 3807507 [A/C] NM_207356 C1orf174 EXON Missense_S82A variant.455 1 3807537 [A/G] NM_207356 C1orf174 EXON Nonsense_Q72X exm8044 1 3807590 [T/C] NM_207356 C1orf174 EXON Missense_R54Q exm8045 1 3807593 [G/C] NM_207356 C1orf174 EXON Missense_T53R rs4446914 1 3808362 [A/G] NM_207356 C1orf174 Silent exm8055 1 3809520 [T/C] NM_207356 C1orf174 EXON Missense_R19Q exm8059 1 3809544 [T/C] NM_207356 C1orf174 EXON Missense_R11Q rs11589102 1 3821782 [A/G] NR_024455 LINC01134 Silent rs10909830 1 3822703 [T/C] NR_024455 LINC01134 Silent kgp9113347 1 3823395 [T/C] NR_024455 LINC01134 Silent rs35383955 1 3825525 [T/C] NR_024455 LINC01134 Silent rs7524279 1 4005693 [A/G] NR_040065 LINC01346 Silent rs7548668 1 4006060 [T/C] NR_040065 LINC01346 Silent rs10799181 1 4009071 [T/C] NR_040065 LINC01346 Silent rs7522140 1 4017137 [T/C] rs12031275 1 4026068 [A/G] rs7550609 1 4026098 [T/C] rs12031557 1 4034097 [A/G] rs10799224 1 4035129 [A/G] exm2268644 1 4037665 [T/C] rs11587331 1 4039896 [T/C] rs6672877 1 4061370 [T/G] rs4128222 1 4066781 [A/C] rs6675979 1 4068052 [A/G] rs4654601 1 4077707 [A/G] rs4129100 1 4078448 [A/G] rs10915600 1 4082105 [T/G] rs6426436 1 4085098 [A/G] rs10915659 1 4092949 [A/G] rs12137595 1 4094068 [T/C] rs12036953 1 4104757 [A/G] rs9792946 1 4119662 [A/G] rs4233258 1 4120898 [T/C] rs7524800 1 4121584 [A/G] rs4130940 1 4130348 [A/G] rs4391636 1 4130684 [T/C] rs10915428 1 4158955 [T/G] rs12073797 1 4165198 [A/G] rs12077262 1 4170048 [T/C] rs7548756 1 4170249 [A/C] rs10492944 1 4171786 [T/C] rs10915434 1 4174116 [T/C] rs12040805 1 4180842 [T/C] rs6426389 1 4186309 [T/C] rs4131506 1 4194597 [A/C] rs6702633 1 4197035 [A/G] rs10915445 1 4197642 [A/G] rs16840838 1 4201349 [A/G] rs7542208 1 4202818 [A/G] rs9426471 1 4206210 [T/C] rs6683453 1 4210402 [A/G] rs16840866 1 4212493 [A/G] rs9988443 1 4216165 [A/G] rs4614226 1 4221599 [T/C] rs16840873 1 4227320 [A/G] rs12123330 1 4227464 [T/C] rs12743431 1 4234792 [A/G] rs4233264 1 4240178 [T/C] rs11808641 1 4250933 [A/G] rs6687268 1 4263677 [T/C] rs4654512 1 4263997 [A/G] rs12022636 1 4271526 [A/C] rs7553814 1 4271915 [A/G] rs11579829 1 4282786 [T/C] rs903540 1 4284659 [T/C] rs10799218 1 4289899 [T/C] rs6679489 1 4309953 [A/G] exm-rs966321 1 4315204 [T/G] rs2101576 1 4327635 [T/C] rs12087250 1 4328074 [T/C] rs10915494 1 4328476 [T/C] rs903541 1 4335893 [A/G] rs1390136 1 4341843 [T/C] rs16838549 1 4343581 [A/G] rs16838560 1 4351888 [T/C] rs2029490 1 4355593 [A/G] exm2251770 1 4363735 [A/C] rs693734 1 4364226 [T/C] rs351619 1 4368819 [A/G] rs351615 1 4370385 [A/G] rs10915509 1 4375859 [A/C] rs12408012 1 4379687 [A/G] rs351606 1 4384056 [T/C] rs641473 1 4388885 [T/C] rs625079 1 4390289 [T/C] rs685494 1 4397703 [A/C] rs10799228 1 4405998 [A/G] rs600933 1 4409496 [T/C] rs528291 1 4414045 [A/G] rs1531328 1 4418164 [A/G] rs349393 1 4419820 [A/C] rs75411 1 4425414 [T/C] rs12404619 1 4426085 [T/C] rs483344 1 4429462 [A/G] rs12028738 1 4431571 [A/G] rs1845635 1 4441089 [A/G] rs349413 1 4444706 [A/C] rs7418714 1 4446996 [T/G] rs7521665 1 4456277 [A/G] rs349400 1 4462460 [T/G] rs349401 1 4463585 [T/G] rs4654432 1 4481215 [T/C] NR_027088 LINC01777 Silent rs12029910 1 4488779 [A/G] rs6658372 1 4488979 [A/G] rs6678792 1 4489398 [T/C] rs10915535 1 4491460 [T/G] rs1556691 1 4493215 [A/G] rs1762814 1 4496256 [T/C] rs12731060 1 4500436 [T/C] rs12128230 1 4501911 [A/C] rs780574 1 4502198 [A/G] rs780593 1 4507743 [T/C] rs666152 1 4518202 [T/G] rs12143782 1 4534350 [T/C] exm2260335 1 4541390 [A/C] rs6656245 1 4543663 [A/G] rs705689 1 4549307 [T/G] rs705690 1 4549380 [A/G] rs1878052 1 4552802 [A/G] rs609506 1 4558933 [T/C] rs582598 1 4561962 [A/C] rs4654441 1 4566515 [A/G] rs1018306 1 4567165 [A/G] rs780568 1 4569834 [A/G] rs1710424 1 4575001 [A/G] rs6703696 1 4578495 [A/G] rs12035830 1 4579733 [A/G] rs518456 1 4582089 [T/G] rs241240 1 4586306 [T/G] rs241239 1 4587177 [A/G] rs12080165 1 4596700 [T/G] rs12726510 1 4598021 [T/C] rs592726 1 4599243 [T/C] rs12092980 1 4606471 [A/G] exm-rs241257 1 4614822 [T/C] rs4654556 1 4615331 [T/C] rs6685798 1 4618251 [A/G] rs241264 1 4619038 [T/C] rs12120353 1 4620996 [A/C] rs241277 1 4629186 [A/C] rs241278 1 4629408 [T/C] rs1541318 1 4634978 [A/G] NR_147025 LINC01646 Silent rs1157688 1 4636767 [T/C] NR_147025 LINC01646 Silent rs1024139 1 4640902 [T/C] NR_147025 LINC01646 Silent rs619364 1 4646379 [A/G] rs644647 1 4647469 [A/C] rs10915566 1 4648780 [T/C] rs1849943 1 4649316 [A/G] rs537761 1 4662408 [A/C] rs3896439 1 4668670 [A/G] rs4654569 1 4675555 [A/G] rs4654574 1 4679731 [T/C] rs12029673 1 4684090 [A/G] rs1107467 1 4685222 [A/G] rs875807 1 4685672 [A/G] rs12122754 1 4698559 [T/C] rs10915575 1 4701258 [T/C] rs12408160 1 4723046 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs12083131 1 4723818 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs17421247 1 4724957 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs11588149 1 4725496 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs7517857 1 4725585 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs12567266 1 4726454 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs16839422 1 4730964 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs10799256 1 4731689 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs16839451 1 4737693 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs2071990 1 4738058 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs2071995 1 4738678 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs763238 1 4743704 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs10915587 1 4746636 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs6688423 1 4768540 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent exm8086 1 4772034 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_A35V,Missense_A35V exm8107 1 4772462 [T/A] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T178S,Missense_T178S exm8113 1 4772535 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_G202D,Missense_G202D exm8119 1 4772582 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_A218T,Missense_A218T exm8120 1 4772585 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T219A,Missense_T219A exm8121 1 4772619 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T230M,Missense_T230M exm8123 1 4772658 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_R243Q,Missense_R243Q exm8127 1 4772717 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_G263R,Missense_G263R rs3753696 1 4776974 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs3820252 1 4784556 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs242044 1 4787119 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs242050 1 4789179 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs409048 1 4805674 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs368808 1 4806381 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs2802720 1 4809120 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs523141 1 4819667 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs12119789 1 4823492 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs12066439 1 4824311 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs426095 1 4828063 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent exm8132 1 4829963 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_I294V,Missense_I294V rs9426483 1 4830900 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs423285 1 4831076 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs396112 1 4831320 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent exm2251963 1 4832482 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Synonymous_L354L,Synonymous_L354L exm8143 1 4832549 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T376M,Missense_T376M exm1821556 1 4832552 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T377M,Missense_T377M exm8145 1 4832569 [A/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T383P,Missense_T383P rs3766977 1 4833498 [T/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs399377 1 4835375 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs9426506 1 4844376 [T/C] rs11805709 1 4847594 [T/C] rs12089516 1 4859727 [A/G] rs4654607 1 4861160 [T/C] rs760817 1 4863913 [T/C] rs10799262 1 4872571 [A/G] rs2050010 1 4880917 [A/C] rs2181699 1 4888012 [T/G] rs10915626 1 4906783 [A/G] rs6683849 1 4908901 [A/G] rs7549868 1 4912726 [A/G] rs6426440 1 4914910 [A/C] rs10915644 1 4927798 [T/C] rs10915645 1 4928187 [T/G] rs7543026 1 4944842 [A/G] rs6664880 1 4952788 [A/G] exm2268645 1 4955862 [T/C] rs6426446 1 4955862 [T/C] rs6678459 1 4968528 [T/C] rs12034557 1 4971507 [T/C] rs11805753 1 4973107 [T/C] rs10915668 1 4973301 [T/C] rs12035499 1 4980692 [A/G] rs942245 1 4981503 [A/G] rs6666453 1 4987424 [T/G] rs2898853 1 4992204 [T/C] rs10915683 1 4996185 [A/G] rs9286971 1 5003504 [A/G] rs9426490 1 5011402 [A/G] rs10915298 1 5012301 [A/G] rs6656223 1 5015844 [A/G] rs10799145 1 5021200 [T/G] rs12754637 1 5023321 [A/G] rs6702660 1 5023430 [A/G] rs7535462 1 5033661 [A/G] rs12757902 1 5036234 [A/G] rs1563791 1 5043734 [A/C] rs7365286 1 5047163 [T/C] rs6683624 1 5051710 [T/C] rs10158288 1 5061519 [T/C] rs10915310 1 5068210 [A/G] rs1870516 1 5072295 [T/C] rs9286975 1 5073092 [A/G] rs10799152 1 5073658 [A/C] rs1459765 1 5088062 [T/C] rs6693990 1 5094435 [A/G] rs10915324 1 5103621 [A/G] rs10915329 1 5114102 [T/C] rs1563792 1 5124859 [A/G] rs6603832 1 5127543 [A/G] rs11590026 1 5140226 [A/G] rs3128687 1 5141293 [T/G] rs10915341 1 5142552 [T/G] rs6680801 1 5145066 [A/G] rs9803863 1 5158857 [A/G] rs2242157 1 5160662 [T/G] rs10733013 1 5168663 [T/C] exm-rs7513590 1 5170712 [A/G] rs2611424 1 5174078 [A/G] rs10737396 1 5181615 [T/C] rs6671889 1 5192703 [A/C] rs10492925 1 5195371 [T/C] rs10799173 1 5197977 [T/C] rs12087805 1 5199928 [A/G] rs12121369 1 5210124 [A/C] rs12027352 1 5211338 [T/C] rs9439511 1 5218601 [T/C] rs16840071 1 5229311 [A/G] rs7547229 1 5240211 [T/C] rs12043691 1 5248448 [T/C] rs2722781 1 5257229 [T/C] rs7528871 1 5259095 [A/C] rs16840171 1 5262767 [T/C] rs6603821 1 5267850 [A/G] rs12140099 1 5270277 [A/G] rs16840190 1 5282726 [T/C] rs7546667 1 5282817 [A/G] rs938962 1 5283942 [T/C] rs4259664 1 5287108 [T/G] rs677735 1 5295176 [A/G] rs2353169 1 5296844 [T/C] rs586165 1 5297887 [T/C] rs12066405 1 5302528 [A/G] rs521430 1 5307076 [T/C] rs7534404 1 5309255 [A/G] rs12135834 1 5309667 [T/C] rs6703948 1 5313445 [A/C] rs16840287 1 5315321 [T/C] rs630153 1 5321139 [A/G] rs499416 1 5324231 [T/C] rs536995 1 5326050 [T/C] rs579467 1 5329865 [T/C] rs584938 1 5334079 [A/C] rs4847576 1 5335599 [T/C] rs17423547 1 5341464 [T/C] rs12141954 1 5342295 [A/G] rs557477 1 5346474 [T/G] exm2252114 1 5347155 [T/C] rs665471 1 5347457 [T/C] rs10915406 1 5349616 [A/G] rs2353174 1 5350428 [T/C] rs10799191 1 5356607 [A/C] rs12040942 1 5371159 [A/C] rs5026665 1 5374940 [A/G] rs4847569 1 5379624 [T/C] rs2148211 1 5401364 [A/G] rs10915416 1 5403031 [A/G] rs4129058 1 5410542 [T/C] rs11576458 1 5475581 [T/C] rs6603835 1 5475663 [A/C] rs3922826 1 5485177 [T/G] rs10907211 1 5492043 [A/C] rs11260694 1 5514194 [T/C] rs12568815 1 5521691 [T/C] rs7414322 1 5533601 [T/C] rs12045091 1 5547562 [T/C] rs11260698 1 5549525 [T/C] rs2071959 1 5556067 [A/G] rs17028104 1 5558726 [T/G] rs9661310 1 5561412 [A/G] rs4845816 1 5561478 [A/G] rs9659669 1 5563399 [A/G] rs9729649 1 5572304 [A/G] rs9660967 1 5581798 [T/C] rs13376005 1 5582558 [T/C] rs7515958 1 5603850 [A/G] rs1935762 1 5616830 [A/G] rs9439613 1 5623965 [T/C] rs904525 1 5635724 [T/C] rs6603844 1 5641064 [A/G] rs1775420 1 5641919 [T/C] rs1695645 1 5643758 [T/C] rs10907200 1 5646002 [T/C] rs707582 1 5671786 [A/G] rs770718 1 5674434 [T/C] rs9439603 1 5679441 [A/G] rs9439587 1 5679808 [A/G] rs10157819 1 5680572 [A/G] rs945322 1 5684301 [A/C] rs4845793 1 5686915 [A/G] rs12071126 1 5692373 [T/C] rs6690868 1 5701323 [T/C] rs17028491 1 5703552 [A/G] rs971816 1 5707091 [A/C] rs707589 1 5711647 [T/C] rs707590 1 5712831 [A/G] exm2252278 1 5717388 [T/C] exm2260467 1 5721189 [A/G] rs770721 1 5722405 [A/G] rs707580 1 5724940 [T/C] rs770702 1 5744921 [T/C] rs770705 1 5747184 [T/G] rs770693 1 5765353 [T/C] rs2649078 1 5767805 [A/G] rs1414380 1 5774876 [A/G] rs2244632 1 5780697 [A/G] rs2842258 1 5790498 [A/G] rs2649063 1 5799631 [A/G] rs11260682 1 5805605 [T/C] rs17429690 1 5814135 [A/G] rs12076190 1 5829039 [T/C] rs4129514 1 5831601 [A/G] rs4845818 1 5861105 [A/G] rs9308476 1 5880466 [A/C] rs1890191 1 5887140 [T/C] rs1698976 1 5900795 [T/C] rs1765720 1 5904983 [T/C] rs1765719 1 5905929 [T/G] rs11121600 1 5921042 [A/C] exm8155 1 5923427 [T/A] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_F1393L,Missense_F880L,Missense_F881L exm8162 1 5924017 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_S1358F,Missense_S845F,Missense_S846F exm8163 1 5924056 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_G1345D,Missense_G832D,Missense_G833D exm1844615 1 5924071 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_A1340V,Missense_A827V,Missense_A828V exm8173 1 5924483 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_H1304R,Missense_H791R,Missense_H792R exm8175 1 5924495 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_S1300N,Missense_S787N,Missense_S788N exm8180 1 5924543 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R1284H,Missense_R771H,Missense_R772H exm8194 1 5925304 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_T1225M,Missense_T712M,Missense_T713M rs1287634 1 5925371 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent exm8197 1 5926503 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R1192W,Missense_R679W,Missense_R680W exm8201 1 5927169 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P1160L,Missense_P647L,Missense_P648L exm8202 1 5927827 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R1149C,Missense_R636C,Missense_R637C exm8208 1 5927943 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_A1110V,Missense_A597V,Missense_A598V rs12405167 1 5930209 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent exm8212 1 5933335 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_A1098T,Missense_A585T,Missense_A586T exm2275415 1 5933360 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_D1089D,Synonymous_D576D,Synonymous_D577D exm2252388 1 5933384 [C/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_G1081G,Synonymous_G568G,Synonymous_G569G exm8213 1 5933384 [C/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_G1081G,Synonymous_G568G,Synonymous_G569G exm8217 1 5934581 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_V1061I,Missense_V548I,Missense_V549I exm8218 1 5934587 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_A1059T,Missense_A546T,Missense_A547T exm8224 1 5934652 [T/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_E1037A,Missense_E524A,Missense_E525A exm8235 1 5934950 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_D1010N,Missense_D497N,Missense_D498N exm8236 1 5935013 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_E989K,Missense_E476K,Missense_E477K exm8243 1 5935039 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_T980M,Missense_T467M,Missense_T468M exm8245 1 5935064 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_S972G,Missense_S459G,Missense_S460G exm8251 1 5935102 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R959Q,Missense_R446Q,Missense_R447Q exm8252 1 5935103 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R959W,Missense_R446W,Missense_R447W exm8258 1 5935144 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R945H,Missense_R432H,Missense_R433H exm8261 1 5935159 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_A940V,Missense_A427V,Missense_A428V exm8262 1 5935162 [T/A] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent exm8263 1 5937158 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_V938M,Missense_V425M,Missense_V426M exm1844859 1 5937254 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R906C,Missense_R393C,Missense_R394C exm8271 1 5937289 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_H894R,Missense_H381R,Missense_H382R exm8272 1 5937317 [T/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_S885R,Missense_S372R,Missense_S373R exm8283 1 5940228 [A/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_D853Y,Missense_D340Y,Missense_D341Y exm8285 1 5940243 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R848W,Missense_R335W,Missense_R336W exm8286 1 5940254 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P844L,Missense_P331L,Missense_P332L exm8288 1 5940266 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_S840N,Missense_S327N,Missense_S328N rs12735231 1 5946443 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent exm8291 1 5947373 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R820W,Missense_R307W,Missense_R308W exm8294 1 5947387 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_S815L,Missense_S302L,Missense_S303L exm8304 1 5947504 [C/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P776R,Missense_P263R,Missense_P264R exm8307 1 5947525 [A/T] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_H769L,Missense_H256L,Missense_H257L exm8310 1 5950939 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_V765I,Missense_V252I,Missense_V253I exm8313 1 5950975 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_D753N,Missense_D240N,Missense_D241N exm1844957 1 5950982 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_D750D,Synonymous_D237D,Synonymous_D238D exm8314 1 5951002 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_V744M,Missense_V231M,Missense_V232M exm8315 1 5951013 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R740H,Missense_R227H,Missense_R228H exm8318 1 5951029 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R735W,Missense_R222W,Missense_R223W rs12401883 1 5957601 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs2134551 1 5961870 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent exm8320 1 5964678 [T/A] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_A714A,Synonymous_A201A,Synonymous_A202A exm8323 1 5964769 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_Q684R,Missense_Q171R,Missense_Q172R exm8333 1 5964854 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_D656N,Missense_D143N,Missense_D144N exm2252398 1 5965372 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_L645L,Synonymous_L132L,Synonymous_L133L exm8340 1 5965427 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_T627M,Missense_T114M,Missense_T115M exm8342 1 5965440 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_T623A,Missense_T110A,Missense_T111A exm8344 1 5965455 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_E618K,Missense_E105K,Missense_E106K exm8348 1 5965494 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_G605S,Missense_G92S,Missense_G93S exm8352 1 5965750 [G/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_Q569E,Missense_Q56E,Missense_Q57E exm8357 1 5965824 [G/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_A544G,Missense_A31G,Missense_A32G exm8359 1 5965833 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P541L,Missense_P28L,Missense_P29L exm8370 1 5969237 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P493L,Silent,Silent rs12116997 1 5969245 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_L490L,Silent,Silent rs962662 1 5978510 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs7549324 1 5982044 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs7535806 1 5983114 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent exm8383 1 5993223 [G/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_S429T,Silent,Silent indel.486 1 5993238 [I/D] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON exm1845084 1 5993313 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_E399G,Silent,Silent exm8390 1 5993383 [A/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_S376A,Silent,Silent exm8393 1 6007259 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R342C,Silent,Silent exm8396 1 6008178 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_T315M,Silent,Silent exm8409 1 6008269 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R285W,Silent,Silent exm8411 1 6012770 [A/T] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_H267L,Silent,Silent exm8414 1 6012895 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_G225G,Silent,Silent exm8420 1 6027365 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_A171T,Silent,Silent exm8421 1 6027409 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_H156R,Silent,Silent variant.488 1 6029157 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Nonsense_Q148X,Silent,Silent rs11120934 1 6037603 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent exm8434 1 6038338 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_F91L,Silent,Silent exm8438 1 6038352 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P86L,Silent,Silent exm8441 1 6038433 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R59Q,Silent,Silent variant.490 1 6046217 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Nonsense_Q45X,Silent,Silent exm8446 1 6046264 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_T29M,Silent,Silent rs806111 1 6053630 [T/G] NM_001199861 KCNAB2 Silent rs546526 1 6070870 [T/C] NM_001199861 KCNAB2 Silent rs1295107 1 6079392 [A/G] NM_001199861 KCNAB2 Silent rs11121065 1 6088364 [A/G] NM_001199861,NM_003636,NM_172130 KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent rs1295094 1 6095199 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860 KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent exm8453 1 6100645 [T/C] NM_001199861,NM_003636,NM_172130,NM_001199860 KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Missense_T6M,Missense_T6M,Missense_T6M,Missense_T6M exm8467 1 6111721 [T/C] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Silent,Silent,Silent,Silent,Missense_A42V,Silent exm8468 1 6111757 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Silent,Silent,Silent,Silent,Missense_R54H,Silent rs3789553 1 6117171 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent rs4908752 1 6125084 [T/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent rs1883771 1 6129864 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent exm8480 1 6145272 [T/C] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Missense_V97A,Missense_V97A,Missense_V83A,Missense_V97A,Missense_V130A,Missense_V30A exm8487 1 6147540 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Missense_V114I,Missense_V114I,Missense_V100I,Missense_V114I,Missense_V147I,Missense_V47I rs2273042 1 6149122 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent exm2264794 1 6153525 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent exm8535 1 6157383 [T/C] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Missense_A327V,Missense_A327V,Missense_A313V,Missense_A327V,Missense_A375V,Missense_A260V rs3205229 1 6158562 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Synonymous_S344S,Synonymous_S344S,Synonymous_S330S,Synonymous_S344S,Synonymous_S392S,Synonymous_S277S exm8543 1 6158569 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Missense_I347V,Missense_I347V,Missense_I333V,Missense_I347V,Missense_I395V,Missense_I280V rs3810993 1 6162583 [A/G] NM_015557 CHD5 EXON Silent exm8579 1 6171835 [A/G] NM_015557 CHD5 EXON Missense_T1750M exm8582 1 6171893 [T/G] NM_015557 CHD5 EXON Missense_K1731Q exm8587 1 6172260 [T/C] NM_015557 CHD5 EXON Missense_K1694E exm8588 1 6172266 [A/C] NM_015557 CHD5 EXON Missense_G1692W rs2785581 1 6177898 [A/G] NM_015557 CHD5 Silent exm8597 1 6181177 [T/G] NM_015557 CHD5 EXON Missense_Q1634K exm8598 1 6181215 [T/C] NM_015557 CHD5 EXON Missense_R1621Q exm8602 1 6181252 [T/C] NM_015557 CHD5 EXON Missense_E1609K exm8609 1 6181605 [A/C] NM_015557 CHD5 EXON Missense_M1576I rs2843495 1 6182321 [A/G] NM_015557 CHD5 Silent rs2843494 1 6183926 [T/C] NM_015557 CHD5 Silent exm8644 1 6185909 [T/C] NM_015557 CHD5 EXON Missense_D1363G exm8659 1 6188904 [T/C] NM_015557 CHD5 EXON Missense_V1205M rs9434662 1 6190215 [T/C] NM_015557 CHD5 Silent exm8677 1 6191706 [T/C] NM_015557 CHD5 EXON Missense_I1083V rs2250358 1 6196869 [A/G] NM_015557 CHD5 EXON Synonymous_I831I exm8725 1 6202556 [T/C] NM_015557 CHD5 EXON Missense_G718D exm8730 1 6202647 [T/C] NM_015557 CHD5 EXON Missense_K688E exm8731 1 6203883 [A/G] NM_015557 CHD5 EXON Synonymous_D681D exm8740 1 6203953 [T/C] NM_015557 CHD5 EXON Missense_R658K exm8747 1 6204150 [T/G] NM_015557 CHD5 EXON Missense_T623N rs9435102 1 6204266 [A/G] NM_015557 CHD5 Silent rs12067480 1 6205349 [T/C] NM_015557 CHD5 Silent exm8755 1 6206323 [T/C] NM_015557 CHD5 EXON Missense_R584H exm8757 1 6206387 [G/C] NM_015557 CHD5 EXON Missense_G563R exm8760 1 6206422 [T/G] NM_015557 CHD5 EXON Missense_P551Q exm8768 1 6206877 [G/C] NM_015557 CHD5 EXON Missense_P480A exm8769 1 6206882 [A/G] NM_015557 CHD5 EXON Missense_T478M rs1883606 1 6207217 [T/C] NM_015557 CHD5 Silent exm8774 1 6208966 [T/G] NM_015557 CHD5 EXON Missense_N444T exm8811 1 6214876 [T/C] NM_015557 CHD5 EXON Missense_A197T exm1850770 1 6215695 [A/G] NM_015557 CHD5 EXON Missense_T157M exm8817 1 6215713 [A/G] NM_015557 CHD5 EXON Missense_S151L rs9434741 1 6217859 [A/G] NM_015557 CHD5 Silent rs747393 1 6221975 [T/C] NM_015557 CHD5 Silent rs4908863 1 6247066 [T/C] NM_000983 RPL22 Silent rs4908864 1 6263354 [T/C] exm8903 1 6269069 [A/C] NM_207396 RNF207 EXON Missense_D151E exm8937 1 6270963 [T/C] NM_207396 RNF207 EXON Missense_R326W exm8938 1 6270964 [A/G] NM_207396 RNF207 EXON Missense_R326Q exm8940 1 6271096 [T/C] NM_207396 RNF207 EXON Nonsense_R343X exm8946 1 6271178 [T/C] NM_207396 RNF207 EXON Missense_T370M exm8949 1 6272028 [A/G] NM_207396 RNF207 EXON Missense_R404Q exm8951 1 6272063 [A/G] NM_207396 RNF207 EXON Missense_E416K exm8952 1 6272065 [G/C] NM_207396 RNF207 EXON Missense_E416D exm8955 1 6272078 [A/G] NM_207396 RNF207 EXON Missense_A421T exm8957 1 6272090 [T/C] NM_207396 RNF207 EXON Missense_R425C exm8962 1 6272342 [T/C] NM_207396 RNF207 EXON Nonsense_R450X exm8964 1 6272364 [T/C] NM_207396 RNF207 EXON Missense_S457L exm1853088 1 6272793 [A/G] NM_207396 RNF207 EXON Missense_A512T exm8982 1 6273207 [A/G] NM_207396 RNF207 EXON Missense_R539H exm8990 1 6278414 [A/G] NM_207396 RNF207 EXON Missense_N573S exm8992 1 6278425 [A/G] NM_207396 RNF207 EXON Missense_A577T exm8994 1 6279316 [T/C] NM_207396 RNF207 EXON Missense_P585L exm8997 1 6279370 [C/G] NM_207396 RNF207 EXON Missense_G603A exm8999 1 6279383 [C/G] NM_207396 RNF207 EXON Missense_E607D indel.514 1 6279448 [D/I] NM_207396 RNF207 EXON exm9016 1 6293647 [T/C] NM_012405 ICMT EXON Missense_N114S exm9017 1 6293674 [A/T] NM_012405 ICMT EXON Missense_Y105F variant.516 1 6294941 [T/C] NM_012405 ICMT Silent exm9019 1 6295019 [T/A] NM_012405 ICMT EXON Missense_C71S exm9031 1 6304454 [A/G] NM_001024598 HES3 EXON Missense_N10S exm9036 1 6304618 [A/G] NM_001024598 HES3 EXON Missense_R31H exm9051 1 6305557 [A/G] NM_001024598 HES3 EXON Missense_D184G exm9066 1 6310562 [G/C] NM_207370 GPR153 EXON Missense_G368R exm9070 1 6310624 [T/C] NM_207370 GPR153 EXON Missense_G347D exm9071 1 6310639 [T/C] NM_207370 GPR153 EXON Missense_R342H exm9104 1 6313887 [T/C] NM_207370 GPR153 EXON Missense_R226Q exm9114 1 6313951 [A/G] NM_207370 GPR153 EXON Missense_R205C exm9115 1 6313963 [T/C] NM_207370 GPR153 EXON Missense_V201M exm9137 1 6314743 [T/C] NM_207370 GPR153 EXON Missense_D75N exm9138 1 6314748 [T/C] NM_207370 GPR153 EXON Missense_R73H rs4908543 1 6317983 [T/C] NM_207370 GPR153 Silent exm1857120 1 6324673 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 EXON Missense_A346V,Missense_A376V,Missense_A325V,Missense_A366V rs3789500 1 6352084 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs17029372 1 6361437 [T/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent exm2252586 1 6378607 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 EXON Synonymous_S199S,Synonymous_S229S,Synonymous_S178S,Synonymous_S219S exm9186 1 6378607 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 EXON Synonymous_S199S,Synonymous_S229S,Synonymous_S178S,Synonymous_S219S rs6577570 1 6387276 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs742505 1 6408060 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent exm2233698 1 6409810 [A/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 EXON Missense_G67V,Missense_G97V,Missense_G46V,Missense_G87V rs3827718 1 6411024 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs7515832 1 6418218 [A/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent exm9222 1 6420661 [A/C] NM_181865,NM_181864,NM_007274 ACOT7,ACOT7,ACOT7 EXON Missense_D18Y,Silent,Silent rs4582826 1 6461530 [T/C] rs17026985 1 6465054 [A/G] rs11485227 1 6474008 [T/C] exm9255 1 6479372 [A/G] NM_019089 HES2 EXON Missense_A57V exm9256 1 6479393 [T/C] NM_019089 HES2 EXON Missense_N50S exm9274 1 6485305 [A/T] NM_031475 ESPN EXON Missense_V97E exm9279 1 6488328 [T/C] NM_031475 ESPN EXON Missense_R113C rs2103673 1 6494399 [T/C] NM_031475 ESPN Silent rs10864548 1 6501796 [T/C] NM_031475 ESPN Silent exm9324 1 6504575 [T/C] NM_031475 ESPN EXON Missense_S342F exm9327 1 6504598 [T/C] NM_031475 ESPN EXON Missense_P350S exm9330 1 6504619 [T/C] NM_031475 ESPN EXON Missense_P357S exm9339 1 6504736 [T/C] NM_031475 ESPN EXON Missense_P396S exm9346 1 6505796 [A/G] NM_031475 ESPN EXON Missense_R422Q exm9395 1 6517262 [T/C] NM_031475 ESPN EXON Missense_R782W exm9406 1 6520127 [T/C] NM_031475 ESPN EXON Missense_T829M exm9437 1 6522218 [C/G] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Missense_P71R,Missense_P209R,Missense_P263R,Missense_P217R,Missense_P254R exm9445 1 6522724 [T/C] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Silent,Missense_D192N,Missense_D246N,Silent,Missense_D237N exm9447 1 6522961 [A/G] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Silent,Missense_T178I,Missense_T232I,Silent,Missense_T223I exm9452 1 6523155 [A/G] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Silent,Missense_A147V,Missense_P199S,Missense_A192V,Missense_A192V exm9459 1 6524501 [T/C] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790,NM_001039664 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Silent,Missense_D114G,Missense_D159G,Missense_D159G,Missense_D159G,Missense_D159G exm9480 1 6525267 [G/C] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790,NM_001039664 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Silent,Silent,Missense_A59G,Missense_A59G,Missense_A59G,Missense_A59G exm9484 1 6525565 [T/C] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790,NM_001039664 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Missense_R32K,Missense_R32K,Missense_R32K,Missense_R32K,Missense_R32K,Missense_R32K exm9487 1 6525592 [T/C] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790,NM_001039664 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Missense_R23Q,Missense_R23Q,Missense_R23Q,Missense_R23Q,Missense_R23Q,Missense_R23Q exm9506 1 6528069 [G/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_G943R,Missense_G943R,Silent,Missense_G1020R,Missense_G943R,Missense_G1012R,Missense_G999R,Missense_G1022R exm9513 1 6528219 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_G893R,Missense_G893R,Missense_G893R,Missense_G970R,Missense_G893R,Missense_G962R,Missense_G949R,Missense_G972R exm9518 1 6528302 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_Q865R,Missense_Q865R,Missense_Q865R,Missense_Q942R,Missense_Q865R,Missense_Q934R,Missense_Q921R,Missense_Q944R exm9523 1 6528371 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_R842Q,Missense_R842Q,Missense_R842Q,Missense_R919Q,Missense_R842Q,Missense_R911Q,Missense_R898Q,Missense_R921Q exm9525 1 6528468 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_G810S,Missense_G810S,Missense_G810S,Missense_G887S,Missense_G810S,Missense_G879S,Missense_G866S,Missense_G889S exm1860664 1 6529187 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_E722K,Missense_E722K,Missense_E722K,Missense_E799K,Missense_E722K,Missense_E791K,Missense_E778K,Missense_E801K exm9556 1 6529605 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Synonymous_P644P,Synonymous_P644P,Synonymous_P644P,Synonymous_P721P,Synonymous_P644P,Synonymous_P713P,Synonymous_P700P,Synonymous_P723P exm9570 1 6530372 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P575L,Missense_P575L,Missense_P575L,Missense_P652L,Missense_P575L,Missense_P644L,Missense_P631L,Missense_P654L exm9571 1 6530391 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_D569N,Missense_D569N,Missense_D569N,Missense_D646N,Missense_D569N,Missense_D638N,Missense_D625N,Missense_D648N exm9576 1 6530645 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_E534G,Missense_E534G,Missense_E534G,Missense_E611G,Missense_E534G,Missense_E603G,Missense_E590G,Missense_E613G exm2273609 1 6530940 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_A466V,Missense_A466V,Missense_A466V,Missense_A543V,Missense_A466V,Missense_A535V,Missense_A522V,Missense_A545V exm9585 1 6531124 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_M440V,Missense_M440V,Missense_M440V,Missense_M517V,Missense_M440V,Missense_M509V,Missense_M496V,Missense_M519V exm9590 1 6531589 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_A414T,Missense_A414T,Missense_A414T,Missense_A491T,Missense_A414T,Missense_A483T,Missense_A470T,Missense_A493T exm9606 1 6532648 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_A340V,Missense_A340V,Missense_A340V,Missense_A417V,Missense_A340V,Missense_A409V,Missense_A396V,Missense_A419V exm9608 1 6532673 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_R332W,Missense_R332W,Missense_R332W,Missense_R409W,Missense_R332W,Missense_R401W,Missense_R388W,Missense_R411W exm9611 1 6533102 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_D310N,Missense_D310N,Missense_D310N,Missense_D387N,Missense_D310N,Missense_D379N,Missense_D366N,Missense_D389N exm9620 1 6533207 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_G275S,Missense_G275S,Missense_G275S,Missense_G352S,Missense_G275S,Missense_G344S,Missense_G331S,Missense_G354S exm9626 1 6533393 [G/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_T238S,Missense_T238S,Missense_T238S,Missense_T315S,Missense_T238S,Missense_T307S,Missense_T294S,Missense_T317S exm9630 1 6534132 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_G178R,Missense_G178R,Missense_G178R,Missense_G255R,Missense_G178R,Missense_G247R,Missense_G234R,Missense_G257R exm9632 1 6534155 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P170L,Missense_P170L,Missense_P170L,Missense_P247L,Missense_P170L,Missense_P239L,Missense_P226L,Missense_P249L exm9634 1 6534182 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_M161T,Missense_M161T,Missense_M161T,Missense_M238T,Missense_M161T,Missense_M230T,Missense_M217T,Missense_M240T exm9636 1 6534226 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1860833 1 6534600 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_K117R,Missense_K117R,Missense_K117R,Missense_K194R,Missense_K117R,Missense_K186R,Missense_K173R,Missense_K196R exm9643 1 6534643 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_V103M,Missense_V103M,Missense_V103M,Missense_V180M,Missense_V103M,Missense_V172M,Missense_V159M,Missense_V182M exm9646 1 6535149 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_I87T,Missense_I87T,Missense_I87T,Missense_I164T,Missense_I87T,Missense_I156T,Missense_I143T,Missense_I166T exm9654 1 6536057 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P28L,Missense_P28L,Missense_P28L,Missense_P105L,Missense_P28L,Missense_P97L,Missense_P84L,Missense_P107L exm9655 1 6536076 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_V22M,Missense_V22M,Missense_V22M,Missense_V99M,Missense_V22M,Missense_V91M,Missense_V78M,Missense_V101M rs2986739 1 6548056 [A/G] NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 Silent,Silent,Silent,Silent,Silent,Silent exm2268861 1 6550376 [T/C] NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 Silent,Silent,Silent,Silent,Silent,Silent exm2233725 1 6550505 [T/C] NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Silent,Silent,Silent,Silent,Silent,Silent exm9669 1 6556585 [A/G] NM_198681,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P38S,Missense_P17S,Missense_P40S rs4908554 1 6568387 [T/C] NM_198681 PLEKHG5 Silent rs3935435 1 6572175 [A/G] NM_198681 PLEKHG5 Silent rs4243830 1 6577871 [T/C] NM_198681 PLEKHG5 Silent rs1010584 1 6579843 [T/C] NM_198681 PLEKHG5 EXON Silent exm9686 1 6585940 [A/G] NM_024654 NOL9 EXON Missense_P695S exm9702 1 6589087 [T/C] NM_024654 NOL9 EXON Missense_A598T newrs146978611 1 6592659 [A/G] NM_024654 NOL9 EXON Nonsense_R467X exm9726 1 6592718 [A/G] NM_024654 NOL9 EXON Missense_P447L exm2233730 1 6592800 [T/C] NM_024654 NOL9 EXON Missense_I420V rs4908909 1 6599041 [T/C] NM_024654 NOL9 Silent exm9742 1 6601932 [A/G] NM_024654 NOL9 EXON Missense_P345S exm1863117 1 6605226 [A/C] NM_024654 NOL9 EXON Missense_Q253H exm9750 1 6609659 [A/G] NM_024654 NOL9 EXON Missense_P239L exm9755 1 6610478 [G/C] NM_024654 NOL9 EXON Missense_L198F exm9758 1 6610486 [A/G] NM_024654 NOL9 EXON Missense_R196W exm9772 1 6614303 [A/G] NM_024654 NOL9 EXON Missense_P87L exm9783 1 6614526 [A/G] NM_024654 NOL9 EXON Missense_C13R exm9786 1 6614535 [A/G] NM_024654 NOL9 EXON Missense_R10W exm9788 1 6615444 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_C4Y,Missense_C4Y exm9789 1 6615467 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Nonsense_Q12X,Nonsense_Q12X exm9790 1 6615469 [C/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_Q12H,Missense_Q12H rs12565181 1 6620545 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 Silent,Silent exm9800 1 6631106 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_A110V,Missense_A110V exm9802 1 6631121 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_T115M,Missense_T115M exm9805 1 6631153 [A/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_H126N,Missense_H126N exm9806 1 6631157 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_I127T,Missense_I127T exm-rs11587438 1 6631431 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 Silent,Silent exm9821 1 6634731 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_R180Q exm9822 1 6634733 [G/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_Q181E exm9823 1 6634764 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_N191S exm9831 1 6634901 [A/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_I237L exm9833 1 6634973 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_R261C exm9848 1 6635231 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_K347E exm9849 1 6635235 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_A348V exm9850 1 6635259 [C/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_S356C exm9851 1 6635294 [G/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_Q368E exm9852 1 6635306 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_A372T exm9853 1 6635309 [A/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_H373N indel.549 1 6635346 [D/I] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON exm9860 1 6635420 [T/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_A410S exm9863 1 6635448 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Nonsense_W419X exm9872 1 6636610 [G/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_L212V,Missense_L466V exm9874 1 6636622 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_T216A,Missense_T470A exm9875 1 6636662 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_I229T,Missense_I483T exm9880 1 6636684 [C/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_N236K,Missense_N490K exm1863306 1 6637055 [G/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R253G,Missense_R507G exm9881 1 6637056 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R253Q,Missense_R507Q exm9889 1 6638779 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_P300L,Missense_P554L exm9897 1 6638869 [G/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_T330S,Missense_T584S exm9899 1 6638925 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R349C,Missense_R603C exm9900 1 6638926 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R349H,Missense_R603H exm9901 1 6638949 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_S357P,Missense_S611P exm9904 1 6638995 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_P372L,Missense_P626L exm9907 1 6639073 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R398H,Missense_R652H exm9912 1 6639150 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_G424S,Missense_G678S exm9917 1 6639184 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_A435V,Missense_A689V exm1863319 1 6639343 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_A488V,Missense_A742V exm9923 1 6639369 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_D497N,Missense_D751N exm9928 1 6639411 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_S511G,Missense_S765G exm9930 1 6639436 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Nonsense_W519X,Nonsense_W773X exm9933 1 6639525 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_G549S,Missense_G803S exm9934 1 6639538 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_Y553C,Missense_Y807C exm9952 1 6641060 [C/G] NM_005341,NM_001278647,NM_001278648 ZBTB48,ZBTB48,ZBTB48 EXON Missense_G131R,Missense_G131R,Missense_G131R exm9962 1 6641300 [A/G] NM_005341,NM_001278647,NM_001278648 ZBTB48,ZBTB48,ZBTB48 EXON Missense_K211E,Missense_K211E,Missense_K211E exm9965 1 6641348 [A/G] NM_005341,NM_001278647,NM_001278648 ZBTB48,ZBTB48,ZBTB48 EXON Missense_G227S,Missense_G227S,Missense_G227S variant.558 1 6647283 [T/C] NM_005341,NM_001278647,NM_001278648 ZBTB48,ZBTB48,ZBTB48 EXON Nonsense_Q386X,Nonsense_Q386X,Nonsense_Q386X exm10030 1 6649228 [T/G] NM_005341,NM_001278647,NM_001278648 ZBTB48,ZBTB48,ZBTB48 EXON Missense_S675A,Missense_S675A,Missense_S675A exm2233733 1 6653499 [T/C] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Silent,Missense_E574K exm10054 1 6653606 [T/C] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Silent,Missense_R538H exm2233734 1 6653687 [G/C] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Silent,Missense_G511A exm10068 1 6655595 [T/C] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Missense_V484M,Missense_V484M rs7521134 1 6657240 [T/C] NM_001324309,NM_014851 KLHL21,KLHL21 Silent,Silent exm10076 1 6659186 [T/G] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Missense_L450M,Missense_L450M exm2233736 1 6659316 [A/C] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Missense_Q406H,Missense_Q406H exm10083 1 6659326 [T/G] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Missense_E403A,Missense_E403A exm10084 1 6659353 [T/C] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Missense_R394H,Missense_R394H exm10091 1 6659437 [A/G] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Missense_A366V,Missense_A366V exm10104 1 6662057 [A/G] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Missense_P274L,Missense_P274L rs481771 1 6666848 [T/C] exm10157 1 6680083 [A/G] NM_153812 PHF13 EXON Missense_K121R exm10158 1 6680100 [A/G] NM_153812 PHF13 EXON Missense_S127G exm10186 1 6688578 [G/C] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_E32Q,Missense_E32Q,Missense_E32Q exm10188 1 6688639 [T/C] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_T52M,Missense_T52M,Missense_T52M exm10190 1 6688680 [A/G] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_A66T,Missense_A66T,Missense_A66T exm10192 1 6688740 [A/G] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_D86N,Missense_D86N,Missense_D86N variant.571 1 6690413 [A/G] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Synonymous_K111K,Synonymous_K110K,Synonymous_K111K exm10202 1 6692464 [T/C] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_A116V,Missense_A115V,Missense_A123V exm10212 1 6692932 [A/G] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_N172S,Missense_N171S,Silent exm10224 1 6694099 [A/C] NM_138350 THAP3 EXON Missense_E160A exm10227 1 6694119 [T/C] NM_138350 THAP3 EXON Missense_R167C rs12727844 1 6694207 [A/G] NM_138350 THAP3 EXON Silent rs1043681 1 6695123 [T/C] NM_138350,NM_018198 THAP3,DNAJC11 EXON Silent,Silent rs17029653 1 6695493 [T/C] NM_138350,NM_018198 THAP3,DNAJC11 EXON Silent,Silent exm10253 1 6695754 [T/C] NM_018198 DNAJC11 EXON Missense_R554K exm10276 1 6697530 [A/G] NM_018198 DNAJC11 EXON Missense_I453T exm10282 1 6698390 [T/C] NM_018198 DNAJC11 EXON Missense_D430N exm10286 1 6700035 [T/C] NM_018198 DNAJC11 EXON Missense_V394M exm10302 1 6705874 [G/C] NM_018198 DNAJC11 EXON Missense_T290S exm10303 1 6705875 [T/G] NM_018198 DNAJC11 EXON Missense_T290P exm10307 1 6705944 [T/C] NM_018198 DNAJC11 EXON Missense_V267M exm10309 1 6705986 [T/C] NM_018198 DNAJC11 EXON Missense_G253S exm10310 1 6706030 [A/G] NM_018198 DNAJC11 EXON Missense_T238I variant.579 1 6711072 [T/C] NM_018198 DNAJC11 Silent rs2235564 1 6713114 [T/C] NM_018198 DNAJC11 Silent rs6659873 1 6723806 [T/G] NM_018198 DNAJC11 Silent rs11122115 1 6725427 [T/C] NM_018198 DNAJC11 Silent 1KG_1_6727802 1 6727802 [D/I] NM_018198 DNAJC11 EXON rs201151 1 6732424 [A/G] NM_018198 DNAJC11 Silent exm10343 1 6741027 [T/A] NM_018198 DNAJC11 EXON Missense_D48V exm10345 1 6761808 [A/G] NM_018198 DNAJC11 EXON Missense_L18S rs277679 1 6783548 [T/C] rs11122122 1 6790946 [A/G] rs447558 1 6795230 [T/C] rs2134318 1 6798102 [T/C] rs277665 1 6814758 [T/C] exm2252762 1 6814758 [T/C] rs656205 1 6822235 [T/C] rs378930 1 6826467 [A/G] rs391674 1 6832052 [A/G] rs11122144 1 6835761 [A/G] rs17029864 1 6863342 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs589178 1 6870942 [T/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs659459 1 6873932 [T/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm10350 1 6880304 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Silent,Missense_I37V,Silent,Silent,Missense_I37V,Missense_I37V,Silent,Missense_I37V,Silent,Missense_I37V,Silent,Silent rs12058103 1 6903599 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6688732 1 6929760 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11586867 1 6972393 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12122806 1 6978623 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908574 1 6986109 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6577395 1 6991925 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6688108 1 7007311 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs10864251 1 7011805 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120796 1 7014330 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17030082 1 7029262 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6698901 1 7041175 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1317017 1 7048779 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6681529 1 7052566 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17030129 1 7059150 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120813 1 7062993 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6690584 1 7078434 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17030152 1 7083719 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120820 1 7087739 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11588846 1 7088261 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent exm2264795 1 7088855 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12738895 1 7093213 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7553537 1 7096700 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7543003 1 7100465 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4074964 1 7105079 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6577410 1 7112390 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908595 1 7119202 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4436414 1 7120915 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs9434824 1 7137637 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1009113 1 7143807 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7544611 1 7148455 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2071917 1 7150527 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2071918 1 7150577 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent var_1_7151436 1 7151436 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120840 1 7156082 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908440 1 7158561 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6694886 1 7167031 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7527268 1 7173895 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs9434469 1 7177744 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7532024 1 7179479 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908443 1 7179721 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908600 1 7196659 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs970973 1 7202190 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent exm-rs970973 1 7202190 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12751444 1 7208217 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs9434483 1 7217727 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908602 1 7220970 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6577416 1 7231484 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908445 1 7241523 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12735487 1 7245162 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908605 1 7245434 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11581497 1 7253886 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17030562 1 7256943 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908448 1 7269283 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs916393 1 7272250 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent exm2268862 1 7278011 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2067996 1 7310351 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908610 1 7311260 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6701870 1 7312258 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6698548 1 7317541 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs10864289 1 7318448 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120889 1 7324323 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs10864290 1 7326245 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2412148 1 7331060 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2412147 1 7331347 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7539551 1 7338813 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12409413 1 7342106 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6687562 1 7343666 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1894654 1 7351434 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17350193 1 7354117 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120896 1 7361338 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs9659928 1 7362478 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12128469 1 7375258 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7543711 1 7379198 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12563394 1 7380747 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12041403 1 7394728 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs845246 1 7405293 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs845242 1 7407968 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs763173 1 7410182 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs845270 1 7426875 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2040433 1 7448154 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NR_146199 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,LOC102725193 Silent,Silent,Silent,Silent,Silent,Silent rs6667164 1 7449915 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs845202 1 7464375 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs763161 1 7468614 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7535846 1 7471157 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120917 1 7478076 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs845259 1 7478924 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120919 1 7482205 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs10864302 1 7487277 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1193219 1 7492120 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1193220 1 7492265 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs9988557 1 7493231 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1193224 1 7497407 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17030865 1 7500586 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12565108 1 7501060 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6577445 1 7513025 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1750837 1 7520601 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1750836 1 7520927 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11805932 1 7521479 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6702132 1 7524476 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1149331 1 7528669 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6678279 1 7540770 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2796483 1 7541345 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs947675 1 7548616 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1193230 1 7551631 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs10864304 1 7557152 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908463 1 7561298 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1725262 1 7562488 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs10864305 1 7567346 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1725241 1 7567618 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12565334 1 7567768 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1193179 1 7569602 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs749958 1 7572262 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7529399 1 7575666 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6693468 1 7578333 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6670316 1 7578713 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1750817 1 7578776 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent exm2268649 1 7584814 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1193167 1 7590448 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2478266 1 7595233 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6577449 1 7598094 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12407666 1 7600905 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs957856 1 7613745 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17031113 1 7617484 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6696544 1 7621589 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17031145 1 7626995 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7526052 1 7634687 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12139380 1 7682237 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent exm10368 1 7700514 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_G159S,Missense_G189S,Missense_G189S,Missense_G189S,Missense_G159S rs9434879 1 7713021 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17031253 1 7717080 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent exm10390 1 7723593 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_K299R,Missense_K329R,Missense_K329R,Missense_K329R,Missense_K299R exm10391 1 7723607 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_V304M,Missense_V334M,Missense_V334M,Missense_V334M,Missense_V304M exm10398 1 7723751 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_S352A,Missense_S382A,Missense_S382A,Missense_S382A,Missense_S352A exm10399 1 7723754 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_G353S,Missense_G383S,Missense_G383S,Missense_G383S,Missense_G353S exm10401 1 7723796 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_A367T,Missense_A397T,Missense_A397T,Missense_A397T,Missense_A367T exm10407 1 7723910 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_V405M,Missense_V435M,Missense_V435M,Missense_V435M,Missense_V405M exm10416 1 7723991 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_E432K,Missense_E462K,Missense_E462K,Missense_E462K,Missense_E432K exm1899859 1 7724045 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_T450A,Missense_T480A,Missense_T480A,Missense_T480A,Missense_T450A exm10421 1 7724105 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_G470C,Missense_G500C,Missense_G500C,Missense_G500C,Missense_G470C exm10423 1 7724123 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_E476K,Missense_E506K,Missense_E506K,Missense_E506K,Missense_E476K exm10429 1 7724166 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_R490Q,Missense_R520Q,Missense_R520Q,Missense_R520Q,Missense_R490Q exm10443 1 7724513 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_S606G,Missense_S636G,Missense_S636G,Missense_S636G,Missense_S606G exm10446 1 7724562 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_S622L,Missense_S652L,Missense_S652L,Missense_S652L,Missense_S622L exm1899910 1 7724605 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_I636M,Missense_I666M,Missense_I666M,Missense_I666M,Missense_I636M exm10452 1 7724697 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_A667V,Missense_A697V,Missense_A697V,Missense_A697V,Missense_A667V exm10454 1 7724727 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_S677C,Missense_S707C,Missense_S707C,Missense_S707C,Missense_S677C exm10458 1 7724804 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_V703I,Missense_V733I,Missense_V733I,Missense_V733I,Missense_V703I exm10476 1 7725114 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_S806L,Missense_S836L,Missense_S836L,Missense_S836L,Missense_S806L exm10480 1 7725170 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_A825T,Missense_A855T,Missense_A855T,Missense_A855T,Missense_A825T rs1891215 1 7727854 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908473 1 7731730 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6658296 1 7735380 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6673977 1 7736097 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm10496 1 7737755 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_T929M,Missense_T959M,Missense_T959M,Missense_T959M,Missense_T929M,Silent,Silent,Silent,Silent,Silent,Silent rs12756299 1 7758760 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3011937 1 7775407 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12028339 1 7784902 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm10502 1 7792520 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_R946K,Missense_R976K,Missense_R976K,Missense_R976K,Missense_R946K,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R19K,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm10515 1 7796504 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_H1026R,Missense_H1056R,Missense_H1056R,Missense_H1056R,Missense_H1026R,Missense_H80R,Missense_H80R,Missense_H80R,Missense_H80R,Missense_H80R,Missense_H80R,Missense_H99R,Missense_H80R,Missense_H80R,Missense_H80R,Missense_H80R,Missense_H80R,Missense_H80R,Missense_H80R rs2071985 1 7796641 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm10535 1 7797503 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_N1147K,Missense_N1177K,Missense_N1177K,Missense_N1177K,Missense_N1147K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N220K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N201K exm10538 1 7797534 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_P1158S,Missense_P1188S,Missense_P1188S,Missense_P1188S,Missense_P1158S,Missense_P212S,Missense_P212S,Missense_P212S,Missense_P212S,Missense_P212S,Missense_P212S,Missense_P231S,Missense_P212S,Missense_P212S,Missense_P212S,Missense_P212S,Missense_P212S,Missense_P212S,Missense_P212S exm10541 1 7797570 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_E1170K,Missense_E1200K,Missense_E1200K,Missense_E1200K,Missense_E1170K,Missense_E224K,Missense_E224K,Missense_E224K,Missense_E224K,Missense_E224K,Missense_E224K,Missense_E243K,Missense_E224K,Missense_E224K,Missense_E224K,Missense_E224K,Missense_E224K,Missense_E224K,Missense_E224K exm10543 1 7797598 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_K1179R,Missense_K1209R,Missense_K1209R,Missense_K1209R,Missense_K1179R,Missense_K233R,Missense_K233R,Missense_K233R,Missense_K233R,Missense_K233R,Missense_K233R,Missense_K252R,Missense_K233R,Missense_K233R,Missense_K233R,Missense_K233R,Missense_K233R,Missense_K233R,Missense_K233R exm10544 1 7797619 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_S1186N,Missense_S1216N,Missense_S1216N,Missense_S1216N,Missense_S1186N,Missense_S240N,Missense_S240N,Missense_S240N,Missense_S240N,Missense_S240N,Missense_S240N,Missense_S259N,Missense_S240N,Missense_S240N,Missense_S240N,Missense_S240N,Missense_S240N,Missense_S240N,Missense_S240N exm10545 1 7797625 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_N1188T,Missense_N1218T,Missense_N1218T,Missense_N1218T,Missense_N1188T,Missense_N242T,Missense_N242T,Missense_N242T,Missense_N242T,Missense_N242T,Missense_N242T,Missense_N261T,Missense_N242T,Missense_N242T,Missense_N242T,Missense_N242T,Missense_N242T,Missense_N242T,Missense_N242T exm10547 1 7797627 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_P1189A,Missense_P1219A,Missense_P1219A,Missense_P1219A,Missense_P1189A,Missense_P243A,Missense_P243A,Missense_P243A,Missense_P243A,Missense_P243A,Missense_P243A,Missense_P262A,Missense_P243A,Missense_P243A,Missense_P243A,Missense_P243A,Missense_P243A,Missense_P243A,Missense_P243A exm10557 1 7798367 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_T1193I,Missense_T1223I,Missense_T1223I,Missense_T1336I,Missense_T1306I,Missense_T247I,Missense_T247I,Missense_T247I,Missense_T360I,Missense_T247I,Missense_T360I,Missense_T379I,Missense_T247I,Missense_T360I,Missense_T247I,Missense_T360I,Missense_T247I,Missense_T360I,Missense_T247I exm10562 1 7798493 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_R1235H,Missense_R1265H,Missense_R1265H,Missense_R1378H,Missense_R1348H,Missense_R289H,Missense_R289H,Missense_R289H,Missense_R402H,Missense_R289H,Missense_R402H,Missense_R421H,Missense_R289H,Missense_R402H,Missense_R289H,Missense_R402H,Missense_R289H,Missense_R402H,Missense_R289H exm10563 1 7798520 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_G1244D,Missense_G1274D,Missense_G1274D,Missense_G1387D,Missense_G1357D,Missense_G298D,Missense_G298D,Missense_G298D,Missense_G411D,Missense_G298D,Missense_G411D,Missense_G430D,Missense_G298D,Missense_G411D,Missense_G298D,Missense_G411D,Missense_G298D,Missense_G411D,Missense_G298D rs2032563 1 7801288 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2071986 1 7805208 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm10575 1 7806012 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_A1350V,Missense_A1380V,Missense_A1380V,Missense_A1493V,Missense_A1463V,Missense_A404V,Missense_A404V,Missense_A404V,Missense_A517V,Missense_A404V,Missense_A517V,Missense_A536V,Missense_A404V,Missense_A517V,Missense_A404V,Missense_A517V,Missense_A404V,Missense_A517V,Missense_A404V exm10586 1 7811361 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_V1462M,Missense_V1492M,Missense_V1492M,Missense_V1598M,Missense_V1568M,Missense_V516M,Missense_V509M,Missense_V516M,Missense_V629M,Missense_V509M,Missense_V622M,Missense_V641M,Missense_V509M,Missense_V622M,Missense_V509M,Missense_V629M,Missense_V516M,Missense_V629M,Missense_V516M rs9919220 1 7811961 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.584 1 7812598 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2051646 1 7817856 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs707455 1 7825311 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs697672 1 7826347 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent var_1_7826559 1 7826559 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Silent,Nonsense_Q1561X,Silent,Silent,Silent,Nonsense_Q585X,Nonsense_Q578X,Silent,Nonsense_Q698X,Silent,Silent,Nonsense_Q710X,Nonsense_Q578X,Silent,Silent,Nonsense_Q698X,Silent,Silent,Nonsense_Q585X rs2153733 1 7830262 [T/C] rs2071987 1 7834026 [A/G] NM_004781 VAMP3 Silent exm10611 1 7838228 [T/C] NM_004781 VAMP3 EXON Synonymous_I94I variant.587 1 7838230 [T/G] NM_004781 VAMP3 Silent rs707460 1 7838691 [T/C] NM_004781 VAMP3 Silent exm10623 1 7844989 [T/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_A18S,Silent,Missense_A18S,Missense_A18S,Missense_A18S exm10627 1 7845505 [A/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_Q45K,Silent,Missense_Q45K,Missense_Q45K,Missense_Q45K newrs143519087 1 7846779 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent indel.590 1 7846786 [D/I] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON exm10643 1 7846795 [T/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_F97V,Silent,Missense_F97V,Missense_F97V,Missense_F97V exm10648 1 7846853 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_E116G,Silent,Missense_E116G,Missense_E116G,Missense_E116G exm10658 1 7848255 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_A181T,Silent,Missense_A181T,Missense_A181T,Missense_A181T exm10659 1 7848256 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_A181V,Silent,Missense_A181V,Missense_A181V,Missense_A181V rs10864315 1 7850081 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent rs697686 1 7850218 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent indel.591 1 7854012 [I/D] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 rs707467 1 7861684 [A/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent exm10681 1 7863183 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_R317C,Silent,Missense_R316C,Missense_R317C,Missense_R317C rs228642 1 7863293 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent exm1908576 1 7863826 [T/A] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_I352L,Missense_I33L,Missense_I351L,Missense_I352L,Missense_I352L exm1908580 1 7863869 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_R366Q,Missense_R47Q,Missense_R365Q,Missense_R366Q,Missense_R366Q exm1908585 1 7863892 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_R374W,Missense_R55W,Missense_R373W,Missense_R374W,Missense_R374W rs228666 1 7868725 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent exm10695 1 7869953 [G/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_P415A,Missense_P96A,Missense_P414A,Missense_P415A,Missense_P415A exm10696 1 7869960 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_H417R,Missense_H98R,Missense_H416R,Missense_H417R,Missense_H417R exm10698 1 7869968 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_V420M,Missense_V101M,Missense_V419M,Missense_V420M,Missense_V420M exm10706 1 7870517 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_Y464C,Missense_Y145C,Missense_Y463C,Missense_Y464C,Missense_Y464C exm10708 1 7870570 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_M482V,Missense_M163V,Missense_M481V,Missense_M482V,Missense_M482V exm10713 1 7870606 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_R494C,Missense_R175C,Missense_R493C,Missense_R494C,Missense_R494C exm2264796 1 7877488 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent exm-rs2797685 1 7879063 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent exm1908713 1 7879377 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_T519A,Missense_T200A,Missense_T511A,Missense_T512A,Missense_T519A exm10722 1 7879401 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_T527A,Missense_T208A,Missense_T519A,Missense_T520A,Missense_T527A var_1_7879481 1 7879481 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent rs10462018 1 7879627 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent exm10732 1 7880251 [G/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_E579Q,Missense_E260Q,Missense_E571Q,Missense_E572Q,Missense_E579Q exm10746 1 7880683 [T/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_V647G,Missense_V328G,Missense_V639G,Missense_V640G,Missense_V647G rs10127838 1 7881780 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent exm10759 1 7886750 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_A723V,Missense_A404V,Missense_A715V,Missense_A716V,Missense_A723V exm10762 1 7887234 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_R749W,Missense_R430W,Missense_R741W,Missense_R742W,Missense_R749W exm10764 1 7887262 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_S758N,Missense_S439N,Missense_S750N,Missense_S751N,Missense_S758N exm10780 1 7887493 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_L835P,Missense_L516P,Missense_L827P,Missense_L828P,Missense_L835P exm10782 1 7887499 [T/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_L837W,Missense_L518W,Missense_L829W,Missense_L830W,Missense_L837W exm10783 1 7887504 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_E839K,Missense_E520K,Missense_E831K,Missense_E832K,Missense_E839K exm10785 1 7887516 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_P843S,Missense_P524S,Missense_P835S,Missense_P836S,Missense_P843S exm10792 1 7887573 [C/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_D862H,Missense_D543H,Missense_D854H,Missense_D855H,Missense_D862H indel.601 1 7887574 [D/I] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON exm10799 1 7887685 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_L899P,Missense_L580P,Missense_L891P,Missense_L892P,Missense_L899P exm1908741 1 7887769 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_S927L,Missense_S608L,Missense_S919L,Missense_S920L,Missense_S927L exm10815 1 7889984 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_H992Y,Missense_H673Y,Missense_H984Y,Missense_H985Y,Missense_H993Y exm10829 1 7890107 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_T1015A,Missense_T714A,Missense_T1025A,Missense_T1008A,Missense_T1034A exm10832 1 7890123 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_L1020S,Missense_L719S,Missense_L1030S,Missense_L1013S,Missense_L1039S exm10833 1 7890135 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_R1024K,Missense_R723K,Missense_R1034K,Missense_R1017K,Missense_R1043K exm10836 1 7890153 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_T1030I,Missense_T729I,Missense_T1040I,Missense_T1023I,Missense_T1049I exm10838 1 7890179 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_P1039S,Missense_P738S,Missense_P1049S,Missense_P1032S,Missense_P1058S exm10839 1 7890188 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_E1042K,Missense_E741K,Missense_E1052K,Missense_E1035K,Missense_E1061K exm10846 1 7895841 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_I1059M,Missense_I758M,Missense_I1069M,Missense_I1052M,Missense_I1078M exm10847 1 7895864 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_S1067F,Missense_S766F,Missense_S1077F,Missense_S1060F,Missense_S1086F rs10462021 1 7897133 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_H1139R,Missense_H838R,Missense_H1149R,Missense_H1132R,Missense_H1158R exm10854 1 7897133 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_H1139R,Missense_H838R,Missense_H1149R,Missense_H1132R,Missense_H1158R exm10855 1 7897136 [T/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_G1140V,Missense_G839V,Missense_G1150V,Missense_G1133V,Missense_G1159V indel.606 1 7897139 [I/D] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON variant.607 1 7897180 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Nonsense_Q1155X,Nonsense_Q854X,Nonsense_Q1165X,Nonsense_Q1148X,Nonsense_Q1174X exm10857 1 7897189 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_T1158A,Missense_T857A,Missense_T1168A,Missense_T1151A,Missense_T1177A exm10859 1 7902736 [G/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_C1166S,Missense_C865S,Missense_C1176S,Missense_C1159S,Missense_C1185S exm10865 1 7902777 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_T1180A,Missense_T879A,Missense_T1190A,Missense_T1173A,Missense_T1199A variant.609 1 7907859 [T/C] NM_006786,NM_021995 UTS2,UTS2 EXON Synonymous_E114E,Synonymous_E129E exm10872 1 7907918 [T/G] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_P95T,Missense_P110T exm10873 1 7907931 [T/G] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_F90L,Missense_F105L exm10875 1 7909737 [T/C] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_S74N,Missense_S89N var_1_7909739 1 7909739 [D/I] NM_006786,NM_021995 UTS2,UTS2 EXON indel.611 1 7910890 [D/I] NM_006786,NM_021995 UTS2,UTS2 EXON exm10877 1 7910934 [A/G] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_S51F,Missense_S66F exm10887 1 7912975 [A/G] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_S30F,Missense_S45F exm10891 1 7913029 [A/G] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_I12T,Silent exm10894 1 7913406 [T/G] NM_021995 UTS2 EXON Missense_N29T rs228648 1 7913430 [A/G] NM_021995 UTS2 EXON Missense_T21M exm10896 1 7913445 [T/C] NM_021995 UTS2 EXON Missense_R16Q rs11582983 1 7916387 [T/C] rs707476 1 7918106 [T/C] rs2859389 1 7920423 [T/C] rs531485 1 7921952 [T/G] rs504560 1 7926542 [A/G] rs228716 1 7936272 [T/G] rs228703 1 7944264 [A/G] rs1040397 1 7952427 [A/G] rs170551 1 7955894 [A/G] rs227163 1 7961206 [T/C] rs12068202 1 7961294 [A/G] exm2264984 1 7980338 [A/G] NM_001561 TNFRSF9 EXON Silent rs863171 1 7992615 [T/C] NM_001561 TNFRSF9 Silent exm10911 1 7993317 [G/C] NM_001561 TNFRSF9 EXON Missense_T195R exm10915 1 7995090 [T/G] NM_001561 TNFRSF9 EXON Missense_A176D exm10916 1 7995111 [A/G] NM_001561 TNFRSF9 EXON Missense_A169V exm10918 1 7995117 [A/G] NM_001561 TNFRSF9 EXON Missense_P167L exm10928 1 7998254 [T/G] NM_001561 TNFRSF9 EXON Missense_K115N exm10929 1 7998277 [G/C] NM_001561 TNFRSF9 EXON Missense_Q108E exm10934 1 7998390 [T/C] NM_001561 TNFRSF9 EXON Missense_G70D exm10937 1 7998823 [T/C] NM_001561 TNFRSF9 EXON Missense_A56T rs161811 1 7999602 [T/C] NM_001561 TNFRSF9 Silent variant.617 1 7999982 [A/G] NM_001561 TNFRSF9 EXON Nonsense_Q25X rs161799 1 8015560 [A/G] exm-rs35675666 1 8021973 [T/G] NM_001123377,NM_007262 PARK7,PARK7 Silent,Silent rs3766606 1 8022197 [T/G] NM_001123377,NM_007262 PARK7,PARK7 Silent,Silent rs7528618 1 8024550 [T/C] NM_001123377,NM_007262 PARK7,PARK7 Silent,Silent exm10955 1 8025459 [A/G] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_A56T,Missense_A56T variant.620 1 8029464 [A/G] NM_001123377,NM_007262 PARK7,PARK7 EXON Synonymous_E84E,Synonymous_E84E exm10965 1 8030994 [A/G] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_R98Q,Missense_R98Q exm1909227 1 8031000 [C/G] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_G100A,Missense_G100A rs225119 1 8044361 [T/C] NM_001123377,NM_007262 PARK7,PARK7 Silent,Silent exm10972 1 8044990 [A/C] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_D149A,Missense_D149A indel.625 1 8045015 [D/I] NM_001123377,NM_007262 PARK7,PARK7 EXON exm10979 1 8045079 [A/G] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_A179T,Missense_A179T exm-rs12727642 1 8046672 [A/C] rs225100 1 8066914 [T/C] exm10985 1 8073398 [T/C] NM_018948 ERRFI1 EXON Missense_A421T exm10989 1 8073461 [A/G] NM_018948 ERRFI1 EXON Nonsense_R400X exm10999 1 8073700 [A/G] NM_018948 ERRFI1 EXON Missense_P320L exm11005 1 8073830 [T/C] NM_018948 ERRFI1 EXON Missense_D277N exm11011 1 8073919 [T/C] NM_018948 ERRFI1 EXON Missense_R247K exm11013 1 8073925 [T/C] NM_018948 ERRFI1 EXON Missense_R245K exm11015 1 8073943 [A/G] NM_018948 ERRFI1 EXON Missense_P239L exm11021 1 8074094 [A/G] NM_018948 ERRFI1 EXON Missense_S189P exm11027 1 8074187 [T/G] NM_018948 ERRFI1 EXON Missense_I158L exm11035 1 8074334 [T/C] NM_018948 ERRFI1 EXON Missense_D109N exm11051 1 8075618 [T/C] NM_018948 ERRFI1 EXON Missense_H21R rs11799555 1 8094200 [T/G] rs225132 1 8095500 [T/G] rs225133 1 8098462 [A/G] rs17032042 1 8106987 [T/G] rs7525428 1 8118634 [T/C] rs4908724 1 8119251 [T/G] rs12081139 1 8160832 [T/C] rs10864330 1 8168564 [T/C] rs7523335 1 8180210 [A/G] rs6577466 1 8182535 [T/G] rs9434608 1 8185985 [T/C] rs4908736 1 8187211 [A/G] rs7527904 1 8189854 [T/C] rs12144409 1 8191889 [T/C] rs7545284 1 8192898 [A/G] rs7529511 1 8195226 [T/C] rs12564077 1 8212425 [T/C] rs11121117 1 8217303 [T/C] rs17032281 1 8222156 [A/G] rs6663882 1 8244145 [A/G] rs12082271 1 8249555 [T/G] rs11587140 1 8260834 [T/C] rs7548511 1 8267513 [A/G] rs390468 1 8274018 [A/G] NR_125998 LINC01714 Silent rs428180 1 8278899 [A/C] rs10864340 1 8280517 [T/C] rs11589993 1 8284497 [A/G] rs299499 1 8292761 [A/G] rs7528376 1 8295130 [T/C] rs4301655 1 8313894 [A/G] rs2661865 1 8325211 [A/G] rs438895 1 8338355 [A/G] rs299689 1 8352398 [T/C] rs966134 1 8373208 [A/G] rs12132135 1 8382607 [A/G] NM_001080397 SLC45A1 Silent exm2275212 1 8384785 [T/C] NM_001080397 SLC45A1 EXON Synonymous_L166L rs2292242 1 8385059 [T/C] NM_001080397 SLC45A1 Silent exm11086 1 8385397 [A/G] NM_001080397 SLC45A1 EXON Missense_R180Q exm11100 1 8386006 [C/G] NM_001080397 SLC45A1 EXON Missense_A241P exm11101 1 8386007 [T/C] NM_001080397 SLC45A1 EXON Missense_A241V exm11103 1 8386016 [T/C] NM_001080397 SLC45A1 EXON Missense_A244V exm11141 1 8390731 [A/G] NM_001080397 SLC45A1 EXON Missense_G427D exm11145 1 8390781 [A/G] NM_001080397 SLC45A1 EXON Missense_G444S rs2289731 1 8390888 [A/G] NM_001080397 SLC45A1 EXON Synonymous_P479P exm11163 1 8395521 [A/G] NM_001080397 SLC45A1 EXON Missense_V524M exm11166 1 8395560 [T/G] NM_001080397 SLC45A1 EXON Missense_A537S rs7520373 1 8397803 [T/C] NM_001080397 SLC45A1 Silent exm11185 1 8397995 [A/G] NM_001080397 SLC45A1 EXON Missense_V607M exm11203 1 8403835 [A/G] NM_001080397 SLC45A1 EXON Missense_R704Q exm11205 1 8403840 [A/G] NM_001080397 SLC45A1 EXON Missense_G706S exm11207 1 8403906 [G/C] NM_001080397 SLC45A1 EXON Missense_V728L rs8627 1 8412935 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Silent,Silent,Silent exm11225 1 8415618 [T/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_P1510T,Missense_P956T,Missense_P1510T exm11230 1 8416160 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_G1496S,Missense_G942S,Missense_G1496S exm11297 1 8419891 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_R1184Q,Missense_R630Q,Missense_R1184Q exm1912798 1 8420270 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Synonymous_D1099D,Synonymous_D545D,Synonymous_D1099D exm11354 1 8421186 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_P794L,Missense_P240L,Missense_P794L exm11374 1 8421875 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_A655V,Missense_A101V,Missense_A655V exm11375 1 8421890 [T/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_Q650P,Missense_Q96P,Missense_Q650P rs2252865 1 8422676 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent exm11380 1 8422837 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_N603S,Missense_N49S,Missense_N603S rs11121181 1 8477006 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent rs301806 1 8482078 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent exm11420 1 8482797 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_N425S,Silent,Missense_N425S rs301798 1 8488565 [A/G] NM_001042681,NM_012102,NR_125999 RERE,RERE,LOC102724552 EXON Silent,Silent,Silent rs2784739 1 8497558 [T/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent exm11427 1 8526071 [T/C] NM_001042681,NM_012102 RERE,RERE EXON Missense_G373S,Missense_G373S exm-rs4908760 1 8526142 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs4908501 1 8554471 [T/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent exm2233884 1 8555123 [T/G] NM_001042681,NM_012102 RERE,RERE EXON Synonymous_T368T,Synonymous_T368T rs4908762 1 8563663 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs7545384 1 8580960 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs2297867 1 8586563 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent exm11445 1 8616562 [T/C] NM_001042681,NM_012102 RERE,RERE EXON Missense_V233I,Missense_V233I rs11121203 1 8648240 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs6677196 1 8649642 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs1318218 1 8658712 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs6577513 1 8702753 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent exm11462 1 8716118 [A/G] NM_001042681,NM_012102 RERE,RERE EXON Missense_P80L,Missense_P80L rs6658881 1 8751268 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent exm-rs12025126 1 8759554 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs10864363 1 8767311 [T/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs17032760 1 8779019 [T/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs12567592 1 8788907 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent kgp347954 1 8796252 [T/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs7513880 1 8839300 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs12137865 1 8868406 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs7546225 1 8871965 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs11121242 1 8906301 [A/G] rs12135416 1 8910347 [A/G] rs11121247 1 8918795 [T/C] variant.631 1 8922983 [A/G] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Nonsense_R400X,Nonsense_R307X,Nonsense_R400X exm11492 1 8923356 [A/G] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Missense_R372C,Missense_R279C,Missense_R372C exm11493 1 8923382 [T/C] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Missense_N363S,Missense_N270S,Missense_N363S exm2253582 1 8924042 [T/G] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Synonymous_P325P,Synonymous_P232P,Synonymous_P325P exm11509 1 8925482 [T/C] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Missense_G243S,Missense_G150S,Missense_G243S exm11510 1 8925485 [T/C] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Missense_I242V,Missense_I149V,Missense_I242V rs2781064 1 8926868 [T/C] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 Silent,Silent,Silent exm11527 1 8927268 [T/C] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Missense_V118I,Missense_V25I,Missense_V118I exm11535 1 8930542 [T/C] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Missense_N70S,Silent,Silent rs2274971 1 8931149 [T/C] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Silent,Silent,Silent exm11539 1 8931964 [T/C] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Missense_R56H,Silent,Missense_R56H rs10218541 1 8952029 [T/C] rs12034719 1 8960153 [A/G] rs7534552 1 8969219 [A/G] rs6665631 1 8978514 [A/G] rs11805233 1 8983768 [T/C] rs2765512 1 8987259 [T/C] rs4609454 1 8991141 [A/G] rs9434652 1 8991873 [T/C] exm11548 1 9009352 [A/T] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Missense_Q37L,Missense_Q37L exm11550 1 9009377 [G/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Missense_Q45H,Missense_Q45H exm11552 1 9009406 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Missense_T55M,Missense_T55M rs2274327 1 9009406 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Missense_T55M,Missense_T55M exm11553 1 9009414 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Missense_R58W,Missense_R58W rs2274328 1 9009444 [A/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Missense_M68L,Missense_M68L exm11555 1 9009444 [A/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Missense_M68L,Missense_M68L exm11556 1 9009451 [G/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Missense_G70A,Missense_G70A rs3765966 1 9011722 [T/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent rs17389460 1 9016302 [T/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent rs2274332 1 9017091 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent rs2274333 1 9017204 [A/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Missense_S30G,Silent,Missense_S90G,Missense_S90G exm11574 1 9017204 [A/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Missense_S30G,Silent,Missense_S90G,Missense_S90G rs12061974 1 9018931 [A/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent exm11605 1 9030959 [A/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Missense_R195S,Missense_R127S,Missense_R255S,Missense_R255S exm2253595 1 9030964 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Synonymous_N196N,Synonymous_N128N,Synonymous_N256N,Synonymous_N256N exm11606 1 9030964 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Synonymous_N196N,Synonymous_N128N,Synonymous_N256N,Synonymous_N256N exm11608 1 9031032 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Missense_P219L,Missense_P151L,Missense_P279L,Missense_P279L exm11617 1 9034717 [A/G] NM_001270501,NM_001270502,NM_001215 CA6,CA6,CA6 EXON Missense_H234R,Missense_H166R,Missense_H294R rs875148 1 9049032 [T/G] rs4908803 1 9060170 [A/G] rs12047015 1 9061382 [T/C] exm11626 1 9063478 [A/T] NM_207420 SLC2A7 EXON Missense_F474I exm11627 1 9063490 [T/G] NM_207420 SLC2A7 EXON Missense_K470Q exm11629 1 9063541 [T/C] NM_207420 SLC2A7 EXON Missense_G453R exm11630 1 9063578 [T/C] NM_207420 SLC2A7 Silent exm1918906 1 9064836 [A/G] NM_207420 SLC2A7 EXON Missense_I432T exm1918915 1 9067387 [C/G] NM_207420 SLC2A7 EXON Missense_G392R exm11649 1 9067417 [T/C] NM_207420 SLC2A7 EXON Missense_G382S exm11651 1 9067432 [T/C] NM_207420 SLC2A7 EXON Missense_E377K exm2260823 1 9068386 [A/G] NM_207420 SLC2A7 Silent exm11665 1 9073591 [T/A] NM_207420 SLC2A7 EXON Missense_I336N exm1918925 1 9073675 [T/G] NM_207420 SLC2A7 EXON Missense_T308N rs7537425 1 9073801 [T/C] NM_207420 SLC2A7 Silent exm11679 1 9074778 [T/C] NM_207420 SLC2A7 EXON Missense_V289M exm11686 1 9074861 [T/C] NM_207420 SLC2A7 EXON Missense_R261Q exm11687 1 9074862 [A/G] NM_207420 SLC2A7 EXON Missense_R261W exm11692 1 9074903 [A/G] NM_207420 SLC2A7 EXON Missense_T247M exm11697 1 9075188 [T/C] NM_207420 SLC2A7 EXON Missense_T235A exm11699 1 9075221 [A/G] NM_207420 SLC2A7 EXON Missense_R224C exm11706 1 9079301 [T/C] NM_207420 SLC2A7 EXON Missense_V135I exm1918946 1 9079319 [A/T] NM_207420 SLC2A7 EXON Nonsense_K129X exm11707 1 9079349 [T/C] NM_207420 SLC2A7 EXON Missense_A119T exm11716 1 9083094 [T/G] NM_207420 SLC2A7 EXON Missense_A65E exm11717 1 9083100 [T/C] NM_207420 SLC2A7 EXON Missense_R63Q newrs148511942 1 9083101 [A/G] NM_207420 SLC2A7 EXON Nonsense_R63X exm11721 1 9083112 [T/G] NM_207420 SLC2A7 EXON Missense_T59N exm11731 1 9086388 [A/G] NM_207420 SLC2A7 EXON Missense_A6V exm2268650 1 9095610 [T/C] rs5840 1 9097241 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent kgp9153910 1 9097251 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent exm2233960 1 9097656 [T/A] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_S499T,Missense_S455T,Missense_S499T,Missense_S352T exm11736 1 9097696 [G/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Nonsense_Y485X,Nonsense_Y441X,Nonsense_Y485X,Nonsense_Y338X exm11746 1 9097812 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_V447M,Missense_V403M,Missense_V447M,Missense_V300M exm11750 1 9097966 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_P431L,Missense_P387L,Missense_P431L,Missense_P284L exm11752 1 9097982 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_V426M,Missense_V382M,Missense_V426M,Missense_V279M exm11759 1 9098072 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_A396T,Missense_A352T,Missense_A396T,Missense_A249T rs875996 1 9098230 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent exm11763 1 9098532 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_V378I,Missense_V334I,Missense_V378I,Missense_V231I exm11769 1 9099643 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_G322R,Missense_G278R,Missense_G322R,Missense_G175R exm11777 1 9099926 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_S273L,Missense_S229L,Missense_S273L,Missense_S126L exm11779 1 9099957 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_I263V,Missense_I219V,Missense_I263V,Missense_I116V exm11780 1 9099966 [G/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_A260P,Missense_A216P,Missense_A260P,Missense_A113P rs1060998 1 9100479 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent kgp25202805 1 9101641 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent,Silent exm11788 1 9101709 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent,Missense_G236R exm11789 1 9101712 [A/T] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent,Missense_L235M exm11794 1 9101826 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent,Missense_R197W exm11797 1 9101867 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_R183Q,Missense_R139Q,Missense_R183Q,Missense_R36Q,Missense_R183Q rs13306772 1 9107571 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent exm11814 1 9107759 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_I110V,Missense_I66V,Missense_I110V,Silent,Missense_I110V rs3004245 1 9111626 [A/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent rs7521322 1 9114091 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent rs13306771 1 9117577 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_V75M,Missense_V31M,Missense_V75M,Silent,Missense_V75M kgp15820906 1 9117596 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Synonymous_T68T,Synonymous_T24T,Synonymous_T68T,Silent,Synonymous_T68T exm1921670 1 9118247 [A/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Nonsense_Y32X,Missense_M1R,Nonsense_Y32X,Silent,Nonsense_Y32X exm11822 1 9118297 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_V16M,Silent,Missense_V16M,Silent,Missense_V16M exm11823 1 9118300 [C/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_L15V,Silent,Missense_L15V,Silent,Missense_L15V rs12145292 1 9118596 [A/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent rs765617 1 9121782 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent kgp4856177 1 9129620 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent,Silent kgp15436943 1 9129791 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent,Silent rs3820034 1 9129867 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent,Silent rs770041 1 9129945 [A/G] NM_001328619 SLC2A5 Silent rs1751681 1 9133056 [T/C] rs12726360 1 9140078 [T/C] rs12127491 1 9140327 [T/C] rs12751466 1 9147856 [T/C] rs12239636 1 9155701 [T/C] rs12239637 1 9155711 [T/C] rs3737669 1 9164133 [A/G] exm11839 1 9164626 [T/C] NM_024980 GPR157 EXON Missense_R287Q exm11852 1 9165564 [A/G] NM_024980 GPR157 EXON Missense_P258L exm1925702 1 9165579 [A/G] NM_024980 GPR157 EXON Missense_P253L exm11865 1 9165685 [A/G] NM_024980 GPR157 EXON Missense_R218C exm11870 1 9165726 [C/G] NM_024980 GPR157 EXON Missense_S204C rs12753196 1 9165818 [A/C] NM_024980 GPR157 Silent exm11874 1 9171336 [A/G] NM_024980 GPR157 EXON Missense_A199V exm2233969 1 9171355 [A/G] NM_024980 GPR157 EXON Missense_R193W rs1705299 1 9177317 [T/C] NM_024980 GPR157 Silent rs10864390 1 9182914 [T/C] NM_024980 GPR157 Silent rs4908812 1 9185660 [A/G] NM_024980 GPR157 Silent rs12726928 1 9190254 [A/C] rs17393144 1 9210262 [A/G] NR_132742 MIR34AHG EXON Silent rs797263 1 9238553 [T/C] NR_132742 MIR34AHG Silent rs10864392 1 9250991 [T/C] NR_132738 LNCTAM34A Silent rs4908823 1 9256200 [A/G] rs2032540 1 9269638 [A/G] rs6577561 1 9274446 [T/C] rs1009941 1 9275194 [A/G] rs10489436 1 9285721 [A/G] rs9434723 1 9292282 [A/G] rs2268175 1 9300608 [T/C] NM_004285,NM_001282587 H6PD,H6PD Silent,Silent exm-rs2239560 1 9304731 [A/G] NM_004285,NM_001282587 H6PD,H6PD Silent,Silent exm2275418 1 9305309 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_S106G,Missense_S117G exm11924 1 9305393 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R134W,Missense_R145W exm11925 1 9305415 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_Y141C,Missense_Y152C exm11927 1 9305445 [A/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_D151A,Missense_D162A exm11932 1 9305532 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_H180R,Missense_H191R exm11938 1 9307032 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A212V,Missense_A223V rs7524046 1 9307033 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Synonymous_A212A,Synonymous_A223A exm11941 1 9307061 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R222C,Missense_R233C exm11943 1 9307076 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_G227S,Missense_G238S exm11944 1 9307089 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R231Q,Missense_R242Q exm11945 1 9307103 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R236W,Missense_R247W rs3753163 1 9318401 [T/C] NM_004285,NM_001282587 H6PD,H6PD Silent,Silent exm11951 1 9322120 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R250C,Missense_R261C exm11954 1 9322153 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R261C,Missense_R272C exm11966 1 9322268 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A299V,Missense_A310V exm11967 1 9322274 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R301Q,Missense_R312Q exm11968 1 9322289 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_G306D,Missense_G317D exm1931537 1 9322334 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R321H,Missense_R332H exm11976 1 9322373 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_T334M,Missense_T345M exm11988 1 9323657 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A369T,Missense_A380T exm11992 1 9323715 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A388V,Missense_A399V exm11995 1 9323730 [T/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_C393F,Missense_C404F exm11996 1 9323739 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R396Q,Missense_R407Q exm12005 1 9323862 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R437H,Missense_R448H exm12008 1 9323885 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_D445N,Missense_D456N exm12010 1 9323894 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A448T,Missense_A459T exm12011 1 9323895 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A448V,Missense_A459V exm12012 1 9323910 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R453Q,Missense_R464Q exm12013 1 9323916 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R455Q,Missense_R466Q exm12015 1 9323921 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A457T,Missense_A468T exm12016 1 9323930 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_V460I,Missense_V471I exm12021 1 9323958 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R469Q,Missense_R480Q exm12023 1 9324002 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_N484D,Missense_N495D exm1931546 1 9324075 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_G508D,Missense_G519D exm12031 1 9324078 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R509H,Missense_R520H exm12034 1 9324104 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_G518S,Missense_G529S exm12035 1 9324107 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R519W,Missense_R530W exm12036 1 9324108 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R519Q,Missense_R530Q exm12046 1 9324213 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_P554L,Missense_P565L exm12048 1 9324233 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_E561K,Missense_E572K exm12052 1 9324275 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A575T,Missense_A586T exm12054 1 9324282 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R577Q,Missense_R588Q exm12056 1 9324294 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R581H,Missense_R592H exm12057 1 9324300 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_G583D,Missense_G594D exm12065 1 9324385 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Nonsense_W611X,Nonsense_W622X exm1931550 1 9324486 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R645Q,Missense_R656Q exm12083 1 9324542 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A664T,Missense_A675T exm12089 1 9324590 [G/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_L680V,Missense_L691V exm12096 1 9324684 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_D711G,Missense_D722G exm12101 1 9324716 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_P722S,Missense_P733S exm12109 1 9324807 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R752H,Missense_R763H exm1931555 1 9324819 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_T756M,Missense_T767M exm12112 1 9324876 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_P775L,Missense_P786L rs17033642 1 9326132 [A/C] NM_004285,NM_001282587 H6PD,H6PD EXON Silent,Silent rs11121354 1 9327413 [T/G] NM_004285,NM_001282587 H6PD,H6PD EXON Silent,Silent rs9435168 1 9331952 [A/G] rs12093524 1 9334714 [A/G] rs916380 1 9341038 [T/C] rs9726385 1 9349938 [T/C] rs621846 1 9358243 [T/C] NM_025106 SPSB1 Silent rs9442562 1 9367908 [A/G] NM_025106 SPSB1 Silent rs630075 1 9370911 [A/G] NM_025106 SPSB1 Silent rs1294046 1 9379693 [A/G] NM_025106 SPSB1 Silent rs11121371 1 9392728 [A/G] NM_025106 SPSB1 Silent rs926247 1 9394008 [T/C] NM_025106 SPSB1 Silent rs12728282 1 9396935 [T/C] NM_025106 SPSB1 Silent rs2075972 1 9406979 [T/C] NM_025106 SPSB1 Silent rs11121380 1 9408959 [A/C] NM_025106 SPSB1 Silent rs11121382 1 9411469 [C/G] NM_025106 SPSB1 Silent rs2310919 1 9415727 [A/G] NM_025106 SPSB1 Silent exm12119 1 9416003 [T/C] NM_025106 SPSB1 EXON Missense_T18M rs4908852 1 9416962 [A/G] NM_025106 SPSB1 Silent rs4908853 1 9420502 [A/G] NM_025106 SPSB1 Silent exm1939653 1 9427508 [T/C] NM_025106 SPSB1 EXON Synonymous_P232P rs2275457 1 9427869 [A/G] NM_025106 SPSB1 EXON Silent rs11802522 1 9434137 [A/C] rs9729149 1 9441040 [T/C] rs2095904 1 9447371 [T/C] rs6688312 1 9458793 [T/G] rs11121406 1 9466292 [A/C] rs12044809 1 9466803 [A/G] rs10864418 1 9489972 [A/G] rs11121412 1 9490339 [A/G] rs9726404 1 9495571 [T/C] rs9787285 1 9499246 [A/G] rs4926481 1 9503008 [T/C] rs4926491 1 9514846 [T/C] rs6695925 1 9526956 [A/G] rs10864425 1 9526979 [A/G] rs10157778 1 9542612 [A/G] rs7550613 1 9562830 [A/G] rs7525571 1 9576675 [A/G] exm2264798 1 9579964 [A/G] rs12124860 1 9627103 [A/G] NM_032315 SLC25A33 Silent exm12183 1 9640058 [A/G] NM_032315 SLC25A33 EXON Missense_V177I exm12190 1 9640253 [A/C] NM_032315 SLC25A33 EXON Missense_L242I exm12193 1 9640291 [T/C] NM_032315 SLC25A33 EXON Synonymous_H254H rs9430174 1 9647137 [A/G] exm12212 1 9655965 [T/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_T44M,Missense_T44M exm12224 1 9657005 [T/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_S108L,Missense_S108L exm12227 1 9657037 [G/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_L119V,Missense_L119V exm12231 1 9657103 [T/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_R141C,Missense_R141C exm12238 1 9658519 [A/G] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_E148K,Missense_E148K exm12242 1 9658657 [T/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_R194W,Missense_R194W rs9430182 1 9658707 [A/G] NM_001010866,NM_001130924 TMEM201,TMEM201 Silent,Silent exm12249 1 9661175 [A/G] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_A207T,Missense_A207T exm12259 1 9661332 [A/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_T259K,Missense_T259K exm12269 1 9661454 [A/G] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_V300I,Missense_V300I exm2234040 1 9661506 [A/G] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_R317H,Missense_R317H exm12288 1 9670738 [A/C] NM_001130924 TMEM201 EXON Missense_P547H exm12290 1 9670834 [T/C] NM_001130924 TMEM201 EXON Missense_P579L exm12292 1 9671823 [A/C] NM_001130924 TMEM201 EXON Missense_K593T rs10779727 1 9677853 [T/C] rs4076986 1 9688512 [A/G] rs9430506 1 9693988 [T/C] rs11121465 1 9696690 [A/G] rs12028233 1 9699768 [A/G] rs4129341 1 9704925 [T/G] rs6540985 1 9708688 [A/G] rs7518793 1 9711487 [T/C] rs4240895 1 9713386 [T/C] NM_005026,NR_027045 PIK3CD,PIK3CD-AS1 EXON Silent,Silent variant.673 1 9713899 [A/G] NM_005026,NR_027045 PIK3CD,PIK3CD-AS1 EXON Silent,Silent rs6671868 1 9729599 [A/G] NM_005026 PIK3CD Silent rs4333853 1 9741792 [A/G] NM_005026,NR_126366,NR_126367,NR_126368 PIK3CD,PIK3CD-AS2,PIK3CD-AS2,PIK3CD-AS2 Silent,Silent,Silent,Silent rs6677649 1 9746248 [A/G] NM_005026,NR_126366,NR_126367,NR_126368 PIK3CD,PIK3CD-AS2,PIK3CD-AS2,PIK3CD-AS2 Silent,Silent,Silent,Silent exm12324 1 9770571 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_V20I,Missense_V20I,Missense_V20I exm12334 1 9775972 [A/T] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_F146I,Missense_F146I,Missense_F146I exm12335 1 9775985 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_A150V,Missense_A150V,Missense_A150V exm12340 1 9776134 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_E200K,Missense_E200K,Missense_E200K exm2234051 1 9777020 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_I262V,Missense_I262V,Silent exm12354 1 9777122 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_V296I,Missense_V296I,Missense_V267I exm12367 1 9778804 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_V358A,Missense_V358A,Missense_V329A exm12371 1 9778839 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_V370M,Missense_V370M,Missense_V341M exm12381 1 9780196 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_T456A,Missense_T456A,Missense_T427A exm12399 1 9780836 [T/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_S520A,Missense_S519A,Missense_S491A exm12405 1 9781272 [C/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_G593R,Missense_G592R,Missense_G564R exm12430 1 9782381 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_G772S,Missense_G771S,Missense_G743S exm2254097 1 9784435 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Synonymous_H940H,Synonymous_H939H,Synonymous_H911H exm12459 1 9784870 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_G958D,Missense_G957D,Missense_G929D exm2254098 1 9784916 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Synonymous_L973L,Synonymous_L972L,Synonymous_L944L exm12471 1 9787083 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Synonymous_V1038V,Synonymous_V1037V,Synonymous_V1009V exm2254099 1 9787083 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Synonymous_V1038V,Synonymous_V1037V,Synonymous_V1009V exm12484 1 9790653 [T/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_S953R,Missense_S943R,Missense_S934R exm12486 1 9790659 [C/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_E951D,Missense_E941D,Missense_E932D exm12487 1 9790660 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_E951G,Missense_E941G,Missense_E932G exm12488 1 9790703 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_E937K,Missense_E927K,Missense_E918K exm12501 1 9791355 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_H886R,Missense_H876R,Missense_H867R exm12528 1 9794087 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_R742C,Missense_R732C,Missense_R723C exm12532 1 9794165 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_D716N,Missense_D706N,Missense_D697N exm2254100 1 9795058 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Synonymous_S686S,Synonymous_S676S,Synonymous_S667S exm12548 1 9795165 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_E651K,Missense_E641K,Missense_E632K exm12561 1 9795591 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_S606L,Missense_S596L,Missense_S587L exm1956722 1 9795602 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_M602I,Missense_M592I,Missense_M583I exm12573 1 9796029 [A/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_A550S,Missense_A540S,Missense_A531S exm12575 1 9796038 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_G547R,Missense_G537R,Missense_G528R exm12577 1 9796064 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_N538S,Missense_N528S,Missense_N519S exm12583 1 9801233 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_E480K,Missense_E470K,Missense_E480K exm12596 1 9804021 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_R426Q,Missense_R416Q,Missense_R426Q exm12601 1 9804055 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_R415W,Missense_R405W,Missense_R415W exm12604 1 9804525 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_I388V,Missense_I378V,Missense_I388V exm12610 1 9804623 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_N355S,Missense_N345S,Missense_N355S exm12612 1 9804630 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_T353A,Missense_T343A,Missense_T353A exm12616 1 9804693 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_A332T,Missense_A322T,Missense_A332T rs7550295 1 9804693 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_A332T,Missense_A322T,Missense_A332T rs10779732 1 9811541 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Synonymous_V213V,Synonymous_V203V,Synonymous_V213V var_1_9811597 1 9811597 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Nonsense_Q195X,Nonsense_Q185X,Nonsense_Q195X exm12638 1 9811618 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_V188M,Missense_V178M,Missense_V188M exm12640 1 9811653 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_G176E,Missense_G166E,Missense_G176E exm12650 1 9815287 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_V109I,Missense_V99I,Missense_V109I exm12658 1 9833335 [T/A] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_F70Y,Missense_F70Y,Missense_F70Y exm12665 1 9833451 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Synonymous_V31V,Synonymous_V31V,Synonymous_V31V rs10746492 1 9842576 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent rs12083800 1 9856826 [T/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent rs6666296 1 9890158 [T/C] rs7539650 1 9909721 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Silent,Silent exm1958443 1 9910795 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Missense_T76M,Missense_T76M rs1220405 1 9922245 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent rs2278611 1 9923101 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent rs7537879 1 9926020 [T/C] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent exm12673 1 9931246 [A/C] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Missense_Q62H,Missense_Q62H exm2254135 1 9931312 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Synonymous_F40F,Synonymous_F40F exm12680 1 9932027 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Synonymous_N32N,Synonymous_N32N exm12683 1 9932101 [T/C] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Missense_G8R,Missense_G8R indel.686 1 9932147 [I/D] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 rs6541068 1 9933281 [T/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent rs12128766 1 9937041 [T/C] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent rs11828 1 9987007 [T/C] NM_001316975,NM_001316974,NM_032368,NM_001316973,NM_001316976 LZIC,LZIC,LZIC,LZIC,LZIC EXON Silent,Silent,Silent,Silent,Silent exm12689 1 9991952 [A/G] NM_001316975,NM_001316974,NM_032368,NM_001316973,NM_001316976 LZIC,LZIC,LZIC,LZIC,LZIC EXON Missense_L171F,Missense_L192F,Missense_L171F,Missense_L171F,Silent exm12694 1 9992024 [G/C] NM_001316975,NM_001316974,NM_032368,NM_001316973,NM_001316976 LZIC,LZIC,LZIC,LZIC,LZIC EXON Missense_A147P,Missense_A168P,Missense_A147P,Missense_A147P,Silent indel.687 1 9994823 [I/D] NM_001316975,NM_001316974,NM_032368,NM_001316973,NM_001316976 LZIC,LZIC,LZIC,LZIC,LZIC EXON exm12699 1 9994845 [T/C] NM_001316975,NM_001316974,NM_032368,NM_001316973,NM_001316976 LZIC,LZIC,LZIC,LZIC,LZIC EXON Missense_G104D,Missense_G125D,Missense_G104D,Missense_G104D,Missense_G104D exm1958934 1 9996684 [T/C] NM_001316975,NM_001316974,NM_032368,NM_001316973,NM_001316976 LZIC,LZIC,LZIC,LZIC,LZIC EXON Silent,Synonymous_E19E,Silent,Silent,Silent rs12064822 1 10008191 [A/G] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 Silent,Silent,Silent rs6683452 1 10029913 [A/G] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 Silent,Silent,Silent variant.688 1 10042426 [A/G] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Nonsense_W169X,Nonsense_W169X exm12728 1 10042508 [A/G] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Missense_I197V,Missense_I197V exm12738 1 10042683 [A/G] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Missense_S255N,Missense_S255N exm12742 1 10042688 [A/G] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Missense_E257K,Missense_E257K exm12743 1 10042746 [A/C] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Missense_E276A,Missense_E276A rs3013786 1 10062919 [T/C] NM_052960,NR_138250 RBP7,RBP7 Silent,Silent rs11578833 1 10068175 [A/G] NM_052960,NR_138250 RBP7,RBP7 Silent,Silent exm12751 1 10068261 [A/G] NM_052960,NR_138250 RBP7,RBP7 EXON Missense_T95A,Silent exm12753 1 10068312 [A/G] NM_052960,NR_138250 RBP7,RBP7 EXON Missense_E112K,Silent rs3003376 1 10071301 [T/C] NM_052960,NR_138250 RBP7,RBP7 Silent,Silent indel.691 1 10075866 [I/D] NM_052960,NR_138250 RBP7,RBP7 EXON rs11803995 1 10094313 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent kgp7252079 1 10118778 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs7539725 1 10125407 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs9430244 1 10155283 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent exm12768 1 10155522 [T/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_V72G,Missense_V72G exm12770 1 10155596 [T/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_S97A,Missense_S97A exm12781 1 10163148 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_E193G,Missense_E193G rs12076922 1 10165301 [T/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent exm12789 1 10165771 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_V260M,Missense_V260M exm2273610 1 10166271 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_P276S,Silent exm12795 1 10166317 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_P291L,Silent exm12801 1 10166437 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_R331H,Silent exm12804 1 10166467 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_S341F,Silent exm12818 1 10177642 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_E441G,Missense_E312G exm12822 1 10179610 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_I460V,Missense_I331V exm12835 1 10190575 [C/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_L571F,Missense_L442F exm12837 1 10190773 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_V605I,Missense_V476I exm12841 1 10190837 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_S626N,Missense_S497N rs6673887 1 10193821 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent exm12849 1 10195185 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_N722S,Missense_N593S exm12861 1 10207138 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_A861T,Missense_A732T rs12076005 1 10209419 [A/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent exm1690130 1 10211395 [A/C] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_Q901P,Missense_Q772P rs6659436 1 10219202 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs9782879 1 10231985 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs2180184 1 10235946 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs7418410 1 10236402 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent newrs150907063 1 10238878 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent exm12901 1 10239569 [C/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_P1266A,Missense_P1137A rs4348727 1 10265606 [A/G] exm2264799 1 10285709 [A/G] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent rs17034615 1 10311877 [A/G] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent exm2230658 1 10327447 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_M147V,Missense_M147V rs912963 1 10348042 [T/C] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent exm-rs10492972 1 10353112 [T/C] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent exm12961 1 10355818 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_G545R,Missense_G545R exm1690377 1 10356960 [T/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_R577C,Missense_R577C exm12964 1 10357048 [T/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_T606I,Missense_T606I exm12973 1 10363309 [T/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_P689L exm12981 1 10363664 [T/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_M807I exm12985 1 10363885 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_G881D exm12988 1 10363929 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_G896R exm12994 1 10364110 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_R956Q exm12996 1 10364139 [T/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_P966S exm12999 1 10364260 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_E1006G exm13007 1 10364419 [A/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_P1059Q indel.697 1 10364528 [D/I] NM_015074,NM_183416 KIF1B,KIF1B EXON exm13012 1 10364532 [T/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_R1097C exm13013 1 10364578 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_N1112S rs17410217 1 10371854 [A/G] NM_015074 KIF1B Silent rs17034716 1 10373503 [A/G] NM_015074 KIF1B Silent exm13020 1 10380144 [T/C] NM_015074 KIF1B EXON Missense_T674I exm13029 1 10381887 [A/G] NM_015074 KIF1B EXON Missense_N731S exm13031 1 10384031 [C/G] NM_015074 KIF1B EXON Missense_E770D exm13034 1 10384829 [A/T] NM_015074 KIF1B EXON Missense_L805M exm13035 1 10384864 [A/G] NM_015074 KIF1B EXON Missense_M816I exm13036 1 10384871 [A/C] NM_015074 KIF1B EXON Missense_S819R exm13040 1 10384896 [T/C] NM_015074 KIF1B EXON Missense_T827I exm13043 1 10384941 [A/G] NM_015074 KIF1B EXON Missense_K842R exm-rs17401966 1 10385471 [A/G] NM_015074 KIF1B Silent exm13048 1 10386320 [A/G] NM_015074 KIF1B EXON Missense_A897T variant.699 1 10394696 [A/G] NM_015074 KIF1B EXON Missense_A969T exm2230665 1 10397247 [A/G] NM_015074 KIF1B EXON Missense_R1036Q exm13073 1 10397567 [A/G] NM_015074 KIF1B EXON Missense_Y1087C exm13084 1 10403292 [T/C] NM_015074 KIF1B EXON Missense_P1166L variant.700 1 10403350 [A/G] NM_015074 KIF1B Silent newrs121908163 1 10406001 [T/C] NM_015074 KIF1B EXON Missense_P1217S exm13101 1 10412758 [A/C] NM_015074 KIF1B EXON Missense_S1294Y rs3748578 1 10420918 [A/G] NM_015074 KIF1B Silent exm13113 1 10421790 [T/C] NM_015074 KIF1B EXON Missense_V1358A variant.702 1 10421883 [T/C] NM_015074 KIF1B EXON Missense_S1389L exm13132 1 10425598 [T/G] NM_015074 KIF1B EXON Missense_Q1502H exm13135 1 10428570 [A/G] NM_015074 KIF1B EXON Missense_V1554M exm13137 1 10428592 [A/G] NM_015074 KIF1B EXON Missense_C1561Y exm1690543 1 10431299 [A/G] NM_015074 KIF1B EXON Missense_R1596K exm13149 1 10434447 [A/G] NM_015074 KIF1B EXON Missense_E1628K exm13162 1 10435429 [A/G] NM_015074 KIF1B EXON Missense_I1756M exm1690552 1 10436626 [T/C] NM_015074 KIF1B EXON Missense_P1765L rs1536262 1 10438687 [T/C] NM_015074 KIF1B EXON Silent rs1002076 1 10438892 [A/G] NM_015074 KIF1B EXON Silent rs3748581 1 10441664 [T/C] rs4846217 1 10451799 [T/C] exm13180 1 10459761 [A/G] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Synonymous_V28V,Synonymous_V28V,Synonymous_V15V rs4846219 1 10463888 [A/C] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD Silent,Silent,Silent rs4846221 1 10472026 [A/C] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD Silent,Silent,Silent rs11121567 1 10473196 [T/C] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Synonymous_D222D,Synonymous_D244D,Synonymous_D231D exm13221 1 10473219 [T/C] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Missense_P230L,Missense_P252L,Missense_P239L exm2249478 1 10477441 [T/C] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Synonymous_Y306Y,Synonymous_Y328Y,Synonymous_Y315Y exm1690573 1 10477532 [A/G] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Missense_A337T,Missense_A359T,Missense_A346T exm13234 1 10478897 [A/G] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Missense_K353R,Missense_K375R,Missense_K362R indel.710 1 10478955 [D/I] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON rs2483679 1 10485019 [A/G] rs528713 1 10488555 [A/G] rs481571 1 10490881 [A/G] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs597441 1 10493415 [T/C] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT Silent,Silent,Silent,Silent,Silent,Silent,Silent exm13267 1 10493990 [T/C] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT EXON Missense_A48V,Missense_A48V,Missense_A48V,Missense_A48V,Silent,Silent,Silent newrs138619348 1 10494013 [T/C] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT EXON Nonsense_R56X,Nonsense_R56X,Nonsense_R56X,Nonsense_R56X,Silent,Silent,Silent exm13281 1 10502373 [T/C] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT EXON Silent,Nonsense_R110X,Nonsense_R110X,Silent,Silent,Silent,Silent exm13283 1 10502454 [A/G] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT EXON Silent,Missense_E137K,Missense_E137K,Silent,Silent,Silent,Silent rs2847337 1 10502710 [A/G] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm13295 1 10511521 [A/G] NM_199006,NM_001270517,NM_198544,NR_037187,NM_001243768,NM_001302 CENPS-CORT,CENPS-CORT,CENPS-CORT,CENPS-CORT,CENPS-CORT,CORT EXON Silent,Silent,Missense_G122R,Silent,Missense_G101R,Missense_G63R exm13304 1 10511596 [T/C] NM_199006,NM_001270517,NM_198544,NR_037187,NM_001243768,NM_001302 CENPS-CORT,CENPS-CORT,CENPS-CORT,CENPS-CORT,CENPS-CORT,CORT EXON Silent,Silent,Missense_R147W,Silent,Missense_R126W,Missense_R88W exm13311 1 10521629 [A/G] NM_213566,NM_004401 DFFA,DFFA EXON Silent,Missense_S305F exm13313 1 10521644 [A/G] NM_213566,NM_004401 DFFA,DFFA EXON Silent,Missense_T300M exm13315 1 10521656 [T/C] NM_213566,NM_004401 DFFA,DFFA EXON Silent,Missense_R296H exm13316 1 10521657 [A/G] NM_213566,NM_004401 DFFA,DFFA EXON Silent,Missense_R296C exm13325 1 10523133 [T/A] NM_213566,NM_004401 DFFA,DFFA EXON Missense_L255F,Missense_L255F exm13329 1 10523191 [A/G] NM_213566,NM_004401 DFFA,DFFA EXON Missense_A236V,Missense_A236V exm13330 1 10523195 [T/C] NM_213566,NM_004401 DFFA,DFFA EXON Missense_V235I,Missense_V235I exm13338 1 10523617 [T/C] NM_213566,NM_004401 DFFA,DFFA EXON Missense_V168I,Missense_V168I exm13339 1 10523626 [A/G] NM_213566,NM_004401 DFFA,DFFA EXON Missense_C165R,Missense_C165R exm13341 1 10523665 [T/C] NM_213566,NM_004401 DFFA,DFFA EXON Missense_A152T,Missense_A152T rs6667629 1 10524467 [T/C] NM_213566,NM_004401 DFFA,DFFA Silent,Silent exm13349 1 10529326 [A/G] NM_213566,NM_004401 DFFA,DFFA EXON Missense_I69T,Missense_I69T exm13355 1 10532442 [A/C] NM_213566,NM_004401 DFFA,DFFA EXON Missense_R25L,Missense_R25L exm13356 1 10535041 [C/G] NM_004565 PEX14 EXON Missense_Q6H exm1690624 1 10535049 [A/T] NM_004565 PEX14 EXON Missense_Q9L exm13357 1 10535052 [G/C] NM_004565 PEX14 EXON Missense_P10R rs9970001 1 10543836 [A/G] NM_004565 PEX14 Silent variant.726 1 10555378 [A/G] NM_004565 PEX14 EXON Synonymous_L28L indel.727 1 10555379 [I/D] NM_004565 PEX14 rs2506901 1 10563492 [A/G] NM_004565 PEX14 Silent rs2056417 1 10581658 [A/G] NM_004565 PEX14 Silent rs2483678 1 10582047 [T/C] NM_004565 PEX14 Silent rs2480789 1 10585046 [T/C] NM_004565 PEX14 Silent variant.728 1 10596294 [T/C] NM_004565 PEX14 EXON Nonsense_Q37X rs17035189 1 10597024 [A/G] NM_004565 PEX14 Silent rs12120962 1 10609505 [A/G] NM_004565 PEX14 Silent rs10157111 1 10613344 [T/G] NM_004565 PEX14 Silent rs12565494 1 10629562 [A/G] NM_004565 PEX14 Silent exm-rs12741973 1 10638604 [T/C] NM_004565 PEX14 Silent rs6540940 1 10651460 [T/C] NM_004565 PEX14 Silent exm13373 1 10659333 [T/G] NM_004565 PEX14 EXON Missense_S70A rs481453 1 10672935 [A/G] NM_004565 PEX14 Silent rs3790630 1 10673094 [T/C] NM_004565 PEX14 Silent exm13385 1 10678439 [T/G] NM_004565 PEX14 EXON Missense_A117S exm13394 1 10683142 [A/G] NM_004565 PEX14 EXON Missense_G151S exm13395 1 10683165 [A/C] NM_004565 PEX14 EXON Missense_S158R exm13396 1 10683166 [A/G] NM_004565 PEX14 EXON Missense_V159M rs190775 1 10683683 [T/G] NM_004565 PEX14 Silent exm13408 1 10687345 [A/G] NM_004565 PEX14 EXON Missense_N201S exm13414 1 10689676 [A/G] NM_004565 PEX14 EXON Missense_V256M exm13425 1 10689869 [A/G] NM_004565 PEX14 EXON Missense_R320K exm13478 1 10700044 [A/C] NM_001079843 CASZ1 EXON Missense_F1412C exm13485 1 10703026 [T/C] NM_001079843 CASZ1 EXON Missense_D1351G exm13496 1 10705025 [C/G] NM_001079843 CASZ1 EXON Missense_A1273P exm13502 1 10705106 [A/G] NM_001079843 CASZ1 EXON Missense_R1246C exm13515 1 10706383 [A/G] NM_001079843 CASZ1 EXON Synonymous_N1166N rs778228 1 10708142 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Synonymous_F1071F,Synonymous_F1071F exm13552 1 10709453 [G/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_I974M,Missense_I974M exm1690681 1 10709466 [A/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_S970I,Missense_S970I exm1690682 1 10709469 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_G969D,Missense_G969D exm13557 1 10710768 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_L954S,Missense_L954S exm13576 1 10713601 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_T838M,Missense_T838M exm13587 1 10713854 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_A754T,Missense_A754T exm13591 1 10713896 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_A740T,Missense_A740T exm1690697 1 10713980 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_A712T,Missense_A712T exm13612 1 10714261 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_T618I,Missense_T618I exm13625 1 10715762 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_V537I,Missense_V537I exm13634 1 10718605 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_V457I,Missense_V457I exm13661 1 10720123 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_R326W,Missense_R326W exm13663 1 10720135 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_G322S,Missense_G322S exm13670 1 10720254 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_T282M,Missense_T282M exm13675 1 10720339 [A/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_W254G,Missense_W254G exm13677 1 10720369 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_R244C,Missense_R244C exm13694 1 10725154 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_T164I,Missense_T164I exm13697 1 10725188 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_G153R,Missense_G153R exm13698 1 10725193 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_S151L,Missense_S151L exm13700 1 10725239 [G/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_A136P,Missense_A136P exm13701 1 10725240 [G/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_H135Q,Missense_H135Q exm13702 1 10725278 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_M123V,Missense_M123V exm13714 1 10725413 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_R78C,Missense_R78C exm13718 1 10725469 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_S59L,Missense_S59L exm2249485 1 10725474 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Synonymous_S57S,Synonymous_S57S rs284322 1 10725498 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Synonymous_D49D,Synonymous_D49D exm13724 1 10725572 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_R25C,Missense_R25C rs284307 1 10739255 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs284262 1 10743363 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs516243 1 10750432 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs7514751 1 10762432 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs284277 1 10790797 [A/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs880315 1 10796866 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent exm-rs880315 1 10796866 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent exm-rs12046278 1 10799577 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs2076492 1 10808587 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs205478 1 10811672 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs205488 1 10827135 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs205474 1 10832861 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs6658023 1 10847340 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs1737617 1 10850798 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs1750861 1 10869052 [A/C] rs539790 1 10887923 [T/C] rs7555879 1 10890026 [A/G] rs661352 1 10890155 [T/G] exm2249489 1 10890771 [A/G] rs1292657 1 10893081 [A/G] rs6682973 1 10905544 [T/C] rs672270 1 10907842 [A/C] rs550887 1 10920576 [T/C] rs1280988 1 10924710 [A/G] rs6677198 1 10934895 [A/G] rs6660223 1 10938897 [T/C] rs11586137 1 10940895 [A/C] rs7543908 1 10947553 [T/C] rs6670956 1 10957719 [A/C] rs10157927 1 10974329 [T/G] rs6540954 1 10977102 [T/G] rs1280971 1 10978316 [A/G] rs12748162 1 10986308 [A/C] rs9803711 1 10996382 [A/G] rs1925666 1 10999600 [T/C] rs6656310 1 11002488 [T/C] rs6666764 1 11005495 [T/C] exm13736 1 11007725 [A/G] NM_001170754 C1orf127 EXON Missense_R823C exm13740 1 11007881 [T/G] NM_001170754 C1orf127 EXON Missense_L771I exm13741 1 11007895 [T/G] NM_001170754 C1orf127 EXON Missense_P766H exm13745 1 11007930 [T/G] NM_001170754 C1orf127 EXON Missense_S754R exm13748 1 11007982 [A/G] NM_001170754 C1orf127 EXON Missense_A737V exm13750 1 11007997 [T/C] NM_001170754 C1orf127 EXON Missense_R732Q exm13752 1 11008043 [A/G] NM_001170754 C1orf127 EXON Missense_L717F exm13754 1 11008055 [A/G] NM_001170754 C1orf127 EXON Missense_R713C exm13758 1 11008102 [A/G] NM_001170754 C1orf127 EXON Missense_A697V exm13761 1 11008127 [T/C] NM_001170754 C1orf127 EXON Missense_G689R exm13773 1 11008295 [A/G] NM_001170754 C1orf127 EXON Missense_P633S rs10864483 1 11008341 [A/G] NM_001170754 C1orf127 EXON Synonymous_C617C exm13783 1 11008406 [A/G] NM_001170754 C1orf127 EXON Missense_R596W exm13784 1 11008417 [A/G] NM_001170754 C1orf127 EXON Missense_A592V exm13786 1 11008487 [T/C] NM_001170754 C1orf127 EXON Missense_G569R exm13789 1 11008532 [T/C] NM_001170754 C1orf127 EXON Missense_A554T exm13795 1 11008633 [A/G] NM_001170754 C1orf127 EXON Missense_P520L exm13799 1 11008684 [A/G] NM_001170754 C1orf127 EXON Missense_T503M exm13800 1 11008685 [T/C] NM_001170754 C1orf127 EXON Missense_T503A rs17036032 1 11008695 [T/C] NM_001170754 C1orf127 EXON Synonymous_P499P exm13802 1 11008700 [A/G] NM_001170754 C1orf127 EXON Missense_R498C exm13809 1 11008762 [A/G] NM_001170754 C1orf127 EXON Missense_T477I exm13811 1 11008799 [G/C] NM_001170754 C1orf127 EXON Missense_P465A exm13812 1 11008843 [A/G] NM_001170754 C1orf127 EXON Missense_A450V exm13813 1 11008844 [G/C] NM_001170754 C1orf127 EXON Missense_A450P exm13816 1 11008864 [A/G] NM_001170754 C1orf127 EXON Missense_A443V exm13817 1 11008870 [T/C] NM_001170754 C1orf127 EXON Missense_K441R exm13818 1 11008894 [A/G] NM_001170754 C1orf127 EXON Missense_L433P exm13820 1 11009679 [A/G] NM_001170754 C1orf127 Silent rs1281012 1 11009703 [T/C] NM_001170754 C1orf127 EXON Missense_R423Q exm13824 1 11009703 [T/C] NM_001170754 C1orf127 EXON Missense_R423Q exm13825 1 11009704 [A/G] NM_001170754 C1orf127 EXON Missense_R423W exm13826 1 11009716 [C/G] NM_001170754 C1orf127 EXON Missense_D419H exm13829 1 11009844 [A/G] NM_001170754 C1orf127 EXON Missense_T376I rs11121657 1 11013286 [A/G] NM_001170754 C1orf127 Silent exm13832 1 11014091 [A/G] NM_001170754 C1orf127 EXON Missense_F362L exm13835 1 11014118 [T/C] NM_001170754 C1orf127 EXON Missense_A353T exm13838 1 11014174 [A/G] NM_001170754 C1orf127 EXON Missense_P334L exm13840 1 11014199 [C/G] NM_001170754 C1orf127 EXON Missense_R326G var_1_11015136 1 11015136 [A/G] NM_001170754 C1orf127 EXON Nonsense_R296X exm13854 1 11015165 [A/G] NM_001170754 C1orf127 EXON Missense_I286T exm13855 1 11017141 [A/G] NM_001170754 C1orf127 EXON Synonymous_L239L exm2249513 1 11017141 [A/G] NM_001170754 C1orf127 EXON Synonymous_L239L exm13856 1 11017163 [A/G] NM_001170754 C1orf127 EXON Missense_V232A rs6685896 1 11022020 [T/C] NM_001170754 C1orf127 Silent exm2259679 1 11029478 [T/G] NM_001170754 C1orf127 Silent rs2003046 1 11032827 [A/C] NM_001170754 C1orf127 Silent rs12565727 1 11033082 [A/G] NM_001170754 C1orf127 Silent rs11121667 1 11038476 [T/C] NM_001170754 C1orf127 Silent rs9430161 1 11046855 [T/G] rs6704113 1 11053101 [A/G] rs11121675 1 11060075 [T/G] rs11121676 1 11063043 [T/C] rs9430335 1 11072117 [T/C] exm13889 1 11076931 [T/C] NM_007375 TARDBP EXON Missense_A90V rs2273348 1 11079077 [A/G] NM_007375 TARDBP Silent var_1_11082266 1 11082266 [A/G] NM_007375 TARDBP EXON Missense_N267S exm13915 1 11086950 [T/C] NM_006610 MASP2 EXON Missense_D685N exm13924 1 11087100 [T/C] NM_006610 MASP2 EXON Missense_G635R exm13925 1 11087121 [T/C] NM_006610 MASP2 EXON Missense_S628G exm13927 1 11087207 [A/G] NM_006610 MASP2 EXON Missense_T599I exm13929 1 11087231 [A/G] NM_006610 MASP2 EXON Missense_P591L exm13931 1 11087272 [T/G] NM_006610 MASP2 EXON Missense_Q577H exm13932 1 11087284 [G/C] NM_006610 MASP2 EXON Missense_W573C exm13934 1 11087301 [G/C] NM_006610 MASP2 EXON Missense_G568R indel.751 1 11087318 [I/D] NM_006610 MASP2 EXON newrs137990115 1 11087334 [A/C] NM_006610 MASP2 EXON Nonsense_E557X exm1694083 1 11087337 [T/C] NM_006610 MASP2 EXON Missense_K556E indel.754 1 11087344 [D/I] NM_006610 MASP2 EXON indel.755 1 11087488 [I/D] NM_006610 MASP2 EXON exm13951 1 11087612 [C/G] NM_006610 MASP2 EXON Missense_G464A exm13954 1 11087687 [T/C] NM_006610 MASP2 EXON Missense_R439H exm13958 1 11090287 [T/C] NM_006610 MASP2 EXON Missense_D415N exm13960 1 11090814 [T/C] NM_006610 MASP2 EXON Missense_V405M exm13962 1 11090840 [T/C] NM_006610 MASP2 EXON Missense_C396Y exm13964 1 11090885 [A/G] NM_006610 MASP2 EXON Missense_T381I exm13966 1 11090897 [A/G] NM_006610 MASP2 EXON Missense_V377A rs2273346 1 11090897 [A/G] NM_006610 MASP2 EXON Missense_V377A exm13967 1 11090916 [A/C] NM_006610 MASP2 EXON Missense_D371Y variant.758 1 11097774 [T/G] NM_006610 MASP2 EXON Nonsense_C328X exm13983 1 11097867 [T/C] NM_006610 MASP2 EXON Synonymous_A297A exm13987 1 11102940 [A/G] NM_006610 MASP2 EXON Missense_T294M indel.760 1 11103004 [D/I] NM_006610 MASP2 EXON rs3765901 1 11104676 [A/G] NM_006610 MASP2 Silent exm14025 1 11106628 [A/C] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_F133V,Missense_F133V exm14026 1 11106630 [A/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_A132V,Missense_A132V exm14032 1 11106673 [A/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_R118C,Missense_R118C exm14039 1 11106762 [A/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_T88M,Missense_T88M exm14040 1 11106783 [T/G] NM_006610,NM_139208 MASP2,MASP2 EXON Nonsense_S81X,Nonsense_S81X exm14051 1 11107144 [A/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_S13L,Missense_S13L rs12121344 1 11111629 [T/C] exm14076 1 11115126 [T/C] NM_003132 SRM EXON Missense_E261K exm1694537 1 11115844 [G/C] NM_003132 SRM EXON Missense_K253N rs2261217 1 11127764 [A/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 Silent,Silent exm1694875 1 11128123 [A/T] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Nonsense_K832X,Nonsense_K857X exm14113 1 11128712 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_P822L,Missense_P847L newrs192329748 1 11128770 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 Silent,Silent exm14118 1 11129649 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_D794N,Missense_D819N rs2791653 1 11129848 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 Silent,Silent exm14124 1 11130974 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_V742I,Missense_V767I exm14134 1 11134005 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Silent,Missense_T715A exm14137 1 11134043 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Silent,Missense_R702H exm14187 1 11141195 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_G461R,Missense_G461R exm14190 1 11141228 [T/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_K450Q,Missense_K450Q exm14196 1 11142745 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_R427H,Missense_R427H exm14200 1 11142844 [A/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_R394L,Missense_R394L var_1_11147637 1 11147637 [T/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Nonsense_Y319X,Nonsense_Y319X exm2249583 1 11150667 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Synonymous_P234P,Synonymous_P234P exm14241 1 11151554 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_R158H,Missense_R158H exm14250 1 11158105 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_E74K,Missense_E74K exm14259 1 11159851 [A/G] NM_002685,NM_001001998,NR_135062,NR_135061 EXOSC10,EXOSC10,LOC105376736,LOC105376736 EXON Missense_S13L,Missense_S13L,Silent,Silent exm14273 1 11169379 [T/C] NM_004958 MTOR EXON Missense_Q2499R exm14325 1 11189856 [T/C] NM_004958 MTOR EXON Missense_V1885I exm14333 1 11190698 [A/G] NM_004958 MTOR EXON Missense_T1834M 1KG_1_11193226 1 11193226 [D/I] NM_004958 MTOR EXON exm2249614 1 11194410 [T/G] NM_004958 MTOR EXON Synonymous_A1748A exm14354 1 11194457 [T/C] NM_004958 MTOR EXON Missense_A1733T exm14355 1 11194467 [A/C] NM_004958 MTOR EXON Missense_Q1729H exm14365 1 11199647 [A/C] NM_004958 MTOR EXON Missense_H1647Q exm14374 1 11204736 [A/G] NM_004958,NR_046600 MTOR,MTOR-AS1 EXON Missense_I1614T,Silent exm14375 1 11204749 [T/C] NM_004958,NR_046600 MTOR,MTOR-AS1 EXON Missense_E1610K,Silent rs1057079 1 11205058 [T/C] NM_004958,NR_046600 MTOR,MTOR-AS1 EXON Synonymous_A1577A,Silent rs12122605 1 11248020 [T/C] NM_004958 MTOR Silent exm14395 1 11249724 [T/A] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_S30T exm14397 1 11249789 [C/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_E51D exm14399 1 11249803 [T/C] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_V56A exm14405 1 11249980 [A/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_Q115R exm14406 1 11249992 [T/C] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_T119M exm14409 1 11252357 [A/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_Q136R exm14410 1 11252369 [A/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_R140H exm14417 1 11253684 [T/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_Q175H exm14418 1 11253688 [T/C] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Nonsense_R177X exm14420 1 11253722 [A/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Nonsense_W188X exm14425 1 11253817 [T/C] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_R220C exm14426 1 11253818 [A/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_R220H exm14440 1 11255073 [A/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_K345R indel.779 1 11269480 [I/D] NM_004958 MTOR EXON exm14461 1 11272449 [G/C] NM_004958 MTOR EXON Missense_R1161G exm2249658 1 11272468 [C/G] NM_004958 MTOR EXON Synonymous_R1154R exm14489 1 11288898 [T/C] NM_004958 MTOR EXON Missense_V953M rs2076655 1 11289161 [A/G] NM_004958 MTOR Silent exm14511 1 11298052 [A/G] NM_004958 MTOR EXON Missense_H686Y exm14514 1 11298552 [T/C] NM_004958 MTOR EXON Missense_I637V exm14518 1 11298606 [A/G] NM_004958 MTOR EXON Missense_R619C exm14544 1 11307762 [T/C] NM_004958 MTOR EXON Missense_N382S exm14548 1 11307941 [A/G] NM_004958 MTOR EXON Missense_P351S exm14550 1 11308007 [T/C] NM_004958 MTOR EXON Missense_A329T rs7525957 1 11318236 [T/C] NM_004958 MTOR Silent exm14600 1 11333812 [T/C] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Missense_S75F,Missense_S75F,Missense_S75F exm14601 1 11333818 [A/G] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Missense_G77D,Missense_G77D,Missense_G77D exm14610 1 11334040 [A/G] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Missense_Y151C,Missense_Y151C,Missense_Y151C exm14612 1 11334073 [T/C] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Missense_L162P,Missense_L162P,Missense_L162P rs3765906 1 11347092 [T/C] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Silent,Silent,Silent rs2982380 1 11395283 [A/C] exm2259729 1 11395416 [A/G] exm2263813 1 11400409 [A/C] rs2982384 1 11401745 [A/G] rs10864498 1 11409469 [A/G] rs2335404 1 11435942 [T/C] rs2788557 1 11439588 [A/G] rs3010208 1 11444975 [T/C] rs12094886 1 11456536 [A/G] rs6671983 1 11461601 [A/G] rs11121728 1 11468442 [T/C] rs10864504 1 11476203 [A/G] rs10864505 1 11477294 [T/C] rs2077480 1 11488203 [T/G] rs877309 1 11489678 [A/G] rs2922240 1 11493832 [T/C] rs2379151 1 11494573 [A/G] rs7414229 1 11498299 [T/C] rs2379159 1 11504514 [T/C] rs12026602 1 11518397 [T/C] rs11121742 1 11520653 [T/G] rs12046038 1 11525533 [A/G] rs10159458 1 11534053 [A/C] rs7555562 1 11542957 [A/C] NM_020780 DISP3 Silent rs7534208 1 11554687 [T/C] NM_020780 DISP3 Silent exm14628 1 11561057 [T/C] NM_020780 DISP3 EXON Missense_T3M exm14629 1 11561065 [C/G] NM_020780 DISP3 EXON Missense_D6H exm14630 1 11561093 [A/C] NM_020780 DISP3 EXON Missense_E15A exm14634 1 11561164 [A/G] NM_020780 DISP3 EXON Missense_G39R exm14637 1 11561200 [G/C] NM_020780 DISP3 EXON Missense_L51V exm14638 1 11561204 [T/C] NM_020780 DISP3 EXON Missense_A52V exm14646 1 11561489 [T/C] NM_020780 DISP3 EXON Missense_T147M exm14649 1 11561593 [A/G] NM_020780 DISP3 EXON Missense_G182S exm1702670 1 11561600 [T/G] NM_020780 DISP3 EXON Missense_G184V exm14652 1 11561692 [T/G] NM_020780 DISP3 EXON Missense_A215S exm14655 1 11561828 [C/G] NM_020780 DISP3 EXON Missense_R260P rs12144924 1 11561937 [T/C] NM_020780 DISP3 EXON Synonymous_V296V rs2745265 1 11574942 [T/C] NM_020780 DISP3 Silent exm14681 1 11576094 [A/G] NM_020780 DISP3 EXON Missense_R542H exm14690 1 11577529 [A/G] NM_020780 DISP3 EXON Missense_V587I exm14698 1 11579470 [A/G] NM_020780 DISP3 EXON Missense_A650T exm14724 1 11584104 [A/C] NM_020780 DISP3 EXON Missense_T823N rs2076469 1 11584164 [A/G] NM_020780 DISP3 Silent exm14731 1 11585308 [T/C] NM_020780 DISP3 EXON Missense_A851V exm14760 1 11589895 [T/C] NM_020780 DISP3 EXON Missense_T994M exm2230861 1 11589972 [A/G] NM_020780 DISP3 EXON Missense_V1020I exm14764 1 11589979 [A/G] NM_020780 DISP3 EXON Missense_R1022H exm14766 1 11590016 [A/G] NM_020780 DISP3 EXON Synonymous_P1034P exm14790 1 11594594 [A/G] NM_020780 DISP3 EXON Missense_V1178I rs2235660 1 11595331 [A/G] NM_020780 DISP3 Silent exm2249707 1 11595659 [T/C] NM_020780 DISP3 EXON Synonymous_G1258G rs2594310 1 11596455 [T/C] NM_020780 DISP3 EXON Synonymous_A1297A rs2817619 1 11603063 [T/C] rs2745291 1 11607932 [A/G] rs11808316 1 11619154 [T/C] rs2745285 1 11626858 [T/C] rs2745276 1 11641283 [A/G] rs7530509 1 11654491 [A/G] rs761087 1 11656684 [A/G] rs761084 1 11660710 [T/C] rs4846019 1 11665575 [A/G] rs734737 1 11675059 [T/G] rs10779763 1 11690766 [A/C] rs6540987 1 11703843 [A/G] exm2230873 1 11709222 [A/C] NM_012168 FBXO2 EXON Missense_E226D exm14843 1 11709892 [A/C] NM_012168 FBXO2 EXON Missense_E187D exm14849 1 11710060 [T/C] NM_012168 FBXO2 EXON Missense_S155G rs909934 1 11713563 [A/G] NM_012168 FBXO2 Silent exm14890 1 11716146 [T/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_P85L,Missense_P85L,Missense_P85L,Silent,Missense_P85L,Missense_P85L,Missense_P85L,Missense_P85L exm14893 1 11718390 [A/G] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_R111Q,Missense_R111Q,Missense_R111Q,Silent,Missense_R111Q,Missense_R111Q,Missense_R111Q,Missense_R111Q exm14902 1 11718797 [A/G] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_A165T,Missense_R123H,Missense_A165T,Silent,Missense_A165T,Missense_R155H,Missense_R123H,Missense_R123H exm14903 1 11718819 [T/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_S172F,Synonymous_V130V,Missense_S172F,Silent,Missense_S172F,Synonymous_V162V,Synonymous_V130V,Synonymous_V130V exm14906 1 11718859 [T/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Synonymous_H185H,Missense_R144C,Synonymous_H185H,Silent,Synonymous_H185H,Missense_R176C,Missense_R144C,Missense_R144C exm14907 1 11718861 [T/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_A186V,Synonymous_R144R,Missense_A186V,Silent,Missense_A186V,Synonymous_R176R,Synonymous_R144R,Synonymous_R144R exm14909 1 11718907 [A/G] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Synonymous_K201K,Missense_E160K,Synonymous_K201K,Silent,Synonymous_K201K,Missense_E192K,Missense_E160K,Missense_E160K exm14912 1 11721213 [A/G] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Synonymous_P217P,Missense_A176T,Synonymous_P217P,Silent,Synonymous_P217P,Missense_A208T,Missense_A176T,Missense_A176T exm1703362 1 11721271 [A/G] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_G237S,Missense_R195Q,Missense_G237S,Silent,Missense_G237S,Missense_R227Q,Missense_R195Q,Missense_R195Q exm14924 1 11721315 [A/G] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Synonymous_G251G,Missense_A210T,Synonymous_G251G,Silent,Synonymous_G251G,Missense_A242T,Missense_A210T,Missense_A210T exm14925 1 11721320 [T/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_P253L,Synonymous_P211P,Missense_P253L,Silent,Missense_P253L,Synonymous_P243P,Synonymous_P211P,Synonymous_P211P rs2294641 1 11721854 [T/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3820340 1 11723520 [A/G] exm14950 1 11731365 [A/G] NM_018438 FBXO6 EXON Missense_R110H exm14953 1 11732050 [T/C] NM_018438 FBXO6 EXON Missense_T160I exm2230883 1 11733425 [A/C] NM_018438 FBXO6 EXON Missense_P201T exm14967 1 11733700 [A/G] NM_018438 FBXO6 EXON Missense_R225Q exm14972 1 11733799 [A/G] NM_018438 FBXO6 EXON Missense_S258N exm14973 1 11733801 [A/C] NM_018438 FBXO6 EXON Missense_P259T exm14976 1 11733846 [A/C] NM_018438 FBXO6 EXON Missense_Q274K exm14979 1 11733894 [A/G] NM_018438 FBXO6 EXON Missense_V290I rs2233025 1 11735652 [A/G] NM_006341,NM_001127325 MAD2L2,MAD2L2 Silent,Silent rs3767300 1 11736410 [T/C] NM_006341,NM_001127325 MAD2L2,MAD2L2 Silent,Silent rs2336030 1 11736600 [T/C] NM_006341,NM_001127325 MAD2L2,MAD2L2 Silent,Silent exm15012 1 11736959 [T/C] NM_006341,NM_001127325 MAD2L2,MAD2L2 EXON Missense_R93H,Missense_R93H rs7539455 1 11754168 [T/G] NM_198545 DRAXIN Silent rs1534991 1 11761252 [T/C] NM_198545 DRAXIN Silent rs9430624 1 11763677 [A/G] NM_198545 DRAXIN Silent exm15048 1 11766424 [T/C] NM_198545 DRAXIN EXON Missense_L37F exm15079 1 11769515 [A/G] NM_198545 DRAXIN EXON Missense_R212Q exm15080 1 11771906 [A/T] NM_198545 DRAXIN Silent exm15081 1 11771907 [C/G] NM_198545 DRAXIN Silent exm15082 1 11771929 [A/G] NM_198545 DRAXIN EXON Missense_G222R exm15086 1 11771999 [A/G] NM_198545 DRAXIN EXON Missense_G245D exm15091 1 11772411 [A/G] NM_198545 DRAXIN EXON Missense_K258E rs9430631 1 11774956 [T/C] NM_198545 DRAXIN Silent exm15106 1 11775178 [T/A] NM_198545 DRAXIN EXON Missense_T284S rs4846029 1 11783484 [T/G] exm-rs4846033 1 11788564 [A/G] exm15135 1 11806234 [C/G] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Missense_T38S,Silent,Silent,Silent,Missense_T38S exm15144 1 11807576 [T/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Missense_A80V,Missense_R48W,Missense_A36V,Missense_R48W,Missense_A80V exm15146 1 11807600 [A/G] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Missense_H88R,Missense_M56V,Missense_H44R,Missense_M56V,Missense_H88R exm15152 1 11808550 [A/G] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Missense_G115E,Missense_D83N,Missense_G71E,Missense_D83N,Missense_G115E exm15153 1 11808560 [A/G] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Synonymous_P118P,Missense_R86H,Synonymous_P74P,Missense_R86H,Synonymous_P118P exm15156 1 11808602 [T/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Synonymous_A132A,Missense_P100L,Synonymous_A88A,Missense_P100L,Synonymous_A132A variant.827 1 11810151 [T/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Missense_S153L,Nonsense_Q128X,Missense_S109L,Nonsense_Q121X,Silent exm15168 1 11810197 [T/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Silent,Missense_A143V,Silent,Missense_A136V,Silent rs8617 1 11810505 [T/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Silent,Silent,Silent,Silent,Silent rs1128059 1 11810674 [A/G] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Silent,Silent,Silent,Silent,Silent rs4075034 1 11810973 [A/G] rs4845877 1 11824303 [T/C] NM_001010881 C1orf167 Silent rs4845881 1 11828319 [A/G] NM_001010881 C1orf167 EXON Missense_R510Q rs12132479 1 11836450 [A/G] NM_001010881 C1orf167 Silent rs4846042 1 11837299 [A/C] NM_001010881,NR_126000 C1orf167,LOC102724659 EXON Silent,Silent rs4846048 1 11846252 [A/G] NM_001010881,NM_005957,NM_001330358 C1orf167,MTHFR,MTHFR EXON Silent,Silent,Silent exm15227 1 11850750 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_T653M,Missense_T694M exm15236 1 11850927 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R594Q,Missense_R635Q exm2249735 1 11851297 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Synonymous_T573T,Synonymous_T614T rs13306556 1 11852110 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR Silent,Silent rs1476413 1 11852300 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR Silent,Silent exm15254 1 11852411 [A/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R519L,Missense_R560L exm15255 1 11852412 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R519C,Missense_R560C exm-rs17375901 1 11852516 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR Silent,Silent exm15262 1 11854076 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R473Q,Missense_R514Q exm15263 1 11854085 [T/A] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_E470V,Missense_E511V exm15264 1 11854086 [C/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_E470Q,Missense_E511Q exm15270 1 11854429 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R445W,Missense_R486W exm15285 1 11854790 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R388C,Missense_R429C newrs121434296 1 11854823 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R377C,Missense_R418C exm15296 1 11855248 [C/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_G313A,Missense_G354A exm15298 1 11855279 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_V303M,Missense_V344M newrs147750177 1 11855351 [A/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Nonsense_E279X,Nonsense_E320X exm15306 1 11855398 [T/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_H263P,Missense_H304P exm15318 1 11856370 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_I225V,Missense_I266V exm15319 1 11856376 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_D223N,Missense_D264N exm15320 1 11856378 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_A222V,Missense_A263V exm15334 1 11861298 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R132H,Missense_R173H exm-rs17367504 1 11862778 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR Silent,Silent exm1704558 1 11863038 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R46W,Missense_R87W rs3737964 1 11867044 [T/C] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent rs4846054 1 11869230 [T/C] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent exm15399 1 11884555 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_E198G,Missense_E176G,Silent exm15417 1 11887245 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Synonymous_S269S,Synonymous_S247S,Silent exm15420 1 11887278 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Synonymous_V280V,Synonymous_V258V,Silent rs7537765 1 11887303 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent exm1704721 1 11889290 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_V387M,Missense_V365M,Silent exm15437 1 11889310 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Synonymous_S393S,Synonymous_S371S,Silent 1KG_1_11893660 1 11893660 [D/I] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON exm15449 1 11894056 [T/C] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_F499L,Missense_F477L,Silent exm15450 1 11894062 [T/C] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_R501C,Missense_R479C,Silent exm15466 1 11894592 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_V580M,Missense_V558M,Silent variant.859 1 11894624 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Nonsense_W590X,Nonsense_W568X,Silent exm-rs1023252 1 11899033 [T/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent rs198415 1 11901592 [T/C] NM_001286,NM_001256959,NR_046428,NR_037806 CLCN6,CLCN6,CLCN6,NPPA-AS1 EXON Silent,Silent,Silent,Silent rs5065 1 11906068 [A/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_X152R exm15531 1 11906068 [A/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_X152R exm15541 1 11907328 [T/C] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_G98R rs13305987 1 11907411 [A/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_A70V exm15543 1 11907423 [A/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_P66L exm15544 1 11907424 [T/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_P66T exm15545 1 11907430 [T/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_S64R indel.864 1 11907478 [D/I] NR_037806,NM_006172 NPPA-AS1,NPPA EXON exm15552 1 11907648 [T/C] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_V32M exm15554 1 11907659 [A/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_M28T exm15566 1 11917720 [A/G] NM_002521 NPPB EXON Missense_R133W exm15574 1 11918379 [A/C] NM_002521 NPPB EXON Missense_V94F exm15576 1 11918387 [T/C] NM_002521 NPPB EXON Missense_R91H exm15582 1 11918444 [T/C] NM_002521 NPPB EXON Missense_R72H exm15586 1 11918519 [T/C] NM_002521 NPPB EXON Missense_R47H exm15588 1 11918794 [C/G] NM_002521 NPPB EXON Missense_G33R exm15590 1 11918817 [A/C] NM_002521 NPPB EXON Missense_R25L rs198389 1 11919271 [A/G] rs6676300 1 11925300 [A/G] rs9661078 1 11936324 [A/C] rs7554327 1 11937404 [T/C] exm2264801 1 11938050 [A/G] rs6667637 1 11947957 [A/G] rs17037520 1 11952406 [T/C] rs1999594 1 11959216 [A/G] rs926269 1 11969748 [T/C] rs7554547 1 11973888 [A/G] rs17037528 1 11978798 [T/C] rs2038028 1 11979556 [A/G] exm15600 1 11980389 [T/C] NM_138346 KIAA2013 EXON Missense_E630K exm15657 1 11983517 [C/G] NM_138346 KIAA2013 EXON Missense_H355D exm15661 1 11985288 [A/C] NM_138346 KIAA2013 EXON Missense_L336R rs4846080 1 12004999 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent exm15695 1 12008093 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R93H,Missense_R46H rs2336379 1 12008863 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent exm15704 1 12009911 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_A131T,Missense_A84T exm15706 1 12009956 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_A146T,Missense_A99T exm15707 1 12010414 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Synonymous_S148S,Synonymous_S101S exm15710 1 12010469 [T/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_A167S,Missense_A120S rs2273285 1 12010469 [T/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_A167S,Missense_A120S exm15712 1 12010487 [T/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_F173V,Missense_F126V exm15721 1 12012768 [T/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_K232N,Missense_K185N exm1705254 1 12012777 [C/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_L235F,Missense_L188F exm1705272 1 12014915 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R250H,Missense_R203H exm2230925 1 12014920 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R252C,Missense_R205C exm15741 1 12017933 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R306H,Missense_R259H exm15742 1 12017942 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_T309I,Missense_T262I exm15743 1 12017959 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_T315A,Missense_T268A rs2273289 1 12018290 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent exm15769 1 12023632 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_V428M,Missense_V381M rs7514577 1 12024235 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Synonymous_N449N,Synonymous_N402N exm15784 1 12024350 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R488W,Missense_R441W rs2273291 1 12025353 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent exm15794 1 12025561 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R546W,Missense_R499W exm15795 1 12025599 [C/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Nonsense_Y558X,Nonsense_Y511X exm15796 1 12025600 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R559C,Missense_R512C exm15798 1 12025648 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_E575K,Missense_E528K rs3818157 1 12027308 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent exm15810 1 12030760 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_P644S,Missense_P597S exm15817 1 12032953 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_V690I,Missense_V643I exm15832 1 12034854 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_V772I,Missense_V725I exm15835 1 12049283 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_H20Y,Missense_H20Y rs6675934 1 12052405 [A/G] NM_001127660,NM_014874 MFN2,MFN2 Silent,Silent variant.880 1 12059084 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R250W,Missense_R250W exm15862 1 12059085 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R250Q,Missense_R250Q newrs140234726 1 12059085 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R250Q,Missense_R250Q rs2295281 1 12059412 [T/C] NM_001127660,NM_014874 MFN2,MFN2 Silent,Silent exm15866 1 12061483 [G/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_C281S,Missense_C281S exm15872 1 12061533 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_G298R,Missense_G298R rs2236057 1 12062205 [A/G] NM_001127660,NM_014874 MFN2,MFN2 Silent,Silent exm15886 1 12064067 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_M393I,Missense_M393I exm15888 1 12064087 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R400Q,Missense_R400Q exm15895 1 12064892 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R468H,Missense_R468H exm15908 1 12065846 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_N525S,Missense_N525S exm15909 1 12065883 [C/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_F537L,Missense_F537L 1KG_1_12066749 1 12066749 [D/I] NM_001127660,NM_014874 MFN2,MFN2 EXON exm15928 1 12069692 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_V705I,Missense_V705I exm15929 1 12069698 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R707W,Missense_R707W exm15931 1 12069725 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_A716T,Missense_A716T indel.888 1 12069757 [I/D] NM_001127660,NM_014874 MFN2,MFN2 EXON rs730123 1 12070292 [A/G] NM_001127660,NM_014874 MFN2,MFN2 Silent,Silent exm15942 1 12081895 [A/G] NM_021933 MIIP EXON Missense_E38K exm15947 1 12082195 [A/C] NM_021933 MIIP EXON Nonsense_S53X exm15951 1 12082246 [A/G] NM_021933 MIIP EXON Missense_R70Q exm15954 1 12082290 [T/C] NM_021933 MIIP EXON Missense_R85C exm15957 1 12082334 [A/T] NM_021933 MIIP EXON Missense_K99N exm15961 1 12082363 [T/C] NM_021933 MIIP EXON Missense_P109L exm15965 1 12082461 [T/C] NM_021933 MIIP EXON Missense_P142S rs11588779 1 12082881 [T/C] NM_021933 MIIP Silent exm15970 1 12082926 [A/G] NM_021933 MIIP EXON Missense_K167E rs2295283 1 12082926 [A/G] NM_021933 MIIP EXON Missense_K167E exm15971 1 12082938 [T/C] NM_021933 MIIP EXON Missense_R171C exm15988 1 12089845 [T/C] NM_021933 MIIP EXON Missense_R247W exm15992 1 12089858 [T/C] NM_021933 MIIP EXON Missense_P251L exm15995 1 12089903 [T/C] NM_021933 MIIP EXON Missense_P266L exm15999 1 12089946 [C/G] NM_021933 MIIP EXON Missense_H280Q exm16004 1 12090102 [T/C] NM_021933 MIIP EXON Missense_S288L exm16006 1 12090122 [T/C] NM_021933 MIIP EXON Missense_R295W exm16010 1 12090140 [T/C] NM_021933 MIIP EXON Nonsense_R301X exm2249760 1 12090154 [T/C] NM_021933 MIIP EXON Synonymous_D305D exm16012 1 12090179 [T/C] NM_021933 MIIP EXON Missense_R314W exm16023 1 12091410 [A/G] NM_021933 MIIP EXON Missense_A344T exm16027 1 12091788 [A/G] NM_021933 MIIP EXON Missense_M364V exm16032 1 12091839 [T/C] NM_021933 MIIP EXON Missense_P381S exm16033 1 12091851 [T/C] NM_021933 MIIP EXON Missense_R385W rs12042105 1 12105048 [T/C] rs6665486 1 12117901 [A/G] rs12029016 1 12128498 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs6690493 1 12135526 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs4845894 1 12164078 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs6541014 1 12164090 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent exm16049 1 12164451 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_K95R,Silent rs12092682 1 12166855 [T/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent exm16066 1 12169689 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_P163L,Missense_P52L exm16074 1 12170154 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_S190N,Missense_S79N exm16087 1 12172056 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_V260M,Missense_V149M exm16095 1 12175694 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_P285L,Missense_P174L exm16097 1 12175729 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_R297C,Missense_R186C rs501525 1 12180805 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs2486316 1 12183245 [T/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent exm16104 1 12183362 [A/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_T323N,Missense_T212N rs8179353 1 12184375 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs17422381 1 12184423 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent exm16118 1 12186043 [T/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_V397L,Missense_V286L exm16119 1 12186058 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_S402G,Missense_S291G rs1201122 1 12188482 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent exm2264802 1 12189561 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs1148472 1 12194451 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent exm16135 1 12198305 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_S452L,Missense_S340L exm16139 1 12198347 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_Q466R,Missense_Q354R exm16141 1 12198362 [A/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_T471N,Missense_T359N exm16154 1 12202555 [A/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_E585D,Missense_E473D rs630542 1 12206866 [T/G] rs1148460 1 12216488 [A/C] rs11807973 1 12225972 [T/G] rs945439 1 12248942 [A/G] NM_001066 TNFRSF1B EXON Synonymous_K56K exm16171 1 12251141 [T/C] NM_001066 TNFRSF1B EXON Synonymous_S102S exm16177 1 12251902 [T/G] NM_001066 TNFRSF1B EXON Missense_A127S exm16191 1 12252927 [A/G] NM_001066 TNFRSF1B EXON Missense_V187M exm16193 1 12252955 [T/G] NM_001066 TNFRSF1B EXON Missense_M196R exm16195 1 12252981 [C/G] NM_001066 TNFRSF1B EXON Missense_P205A exm16200 1 12253062 [A/G] NM_001066 TNFRSF1B EXON Missense_E232K exm16205 1 12253143 [A/G] NM_001066 TNFRSF1B EXON Missense_A259T exm16206 1 12254015 [T/C] NM_001066 TNFRSF1B EXON Missense_L264P exm16210 1 12254659 [A/G] NM_001066 TNFRSF1B EXON Missense_Q295R exm2230952 1 12262042 [A/G] NM_001066 TNFRSF1B EXON Missense_K307E rs5746059 1 12262792 [A/G] NM_001066 TNFRSF1B Silent exm16227 1 12266883 [T/C] NM_001066 TNFRSF1B EXON Missense_S398P rs1061624 1 12267265 [A/G] NM_001066 TNFRSF1B EXON Silent rs5746073 1 12268637 [T/C] NM_001066 TNFRSF1B EXON Silent rs7550488 1 12278932 [A/G] exm16242 1 12294420 [C/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_G33R,Missense_G33R exm16247 1 12304303 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_G59D,Missense_G59D exm16253 1 12304403 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_E92D,Missense_E92D variant.907 1 12304676 [T/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm2264987 1 12305286 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs374450 1 12305286 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16261 1 12309291 [A/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_Q153H,Missense_Q153H exm16263 1 12309350 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_G173D,Missense_G173D exm16264 1 12309363 [C/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_K177N,Missense_K177N exm16270 1 12313827 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_I205V,Missense_I205V exm16276 1 12316393 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_A225T,Missense_A225T exm16283 1 12316432 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_V238I,Missense_V238I rs235246 1 12316584 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16290 1 12317102 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_V300G,Missense_V300G exm16293 1 12317113 [A/T] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R304W,Missense_R304W variant.909 1 12318010 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Nonsense_Y320X,Nonsense_Y320X exm16297 1 12318027 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_N326S,Missense_N326S exm16298 1 12318056 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R336C,Missense_R336C exm16299 1 12318057 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R336H,Missense_R336H exm16306 1 12318153 [T/A] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_D368V,Missense_D368V exm16307 1 12320753 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_E372K,Missense_E372K exm16319 1 12321140 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_E450K,Missense_E450K newrs190463258 1 12321211 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16329 1 12322081 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_K513R,Missense_K513R variant.912 1 12322142 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16342 1 12328811 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_P617L,Missense_P617L rs3765339 1 12329295 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent newrs141962208 1 12331182 [T/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16356 1 12333084 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R710W,Missense_R710W exm1706232 1 12333085 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R710Q,Missense_R710Q exm1706233 1 12333136 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_K727R,Missense_K727R exm1706252 1 12336034 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_V797I,Missense_V797I exm16369 1 12336098 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_S818L,Missense_S818L exm16371 1 12336134 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R830Q,Missense_R830Q exm2249773 1 12336147 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Synonymous_N834N,Synonymous_N834N variant.914 1 12336193 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Nonsense_E850X,Nonsense_E850X exm16384 1 12336481 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R946C,Missense_R946C exm16397 1 12336751 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R1036W,Missense_R1036W exm1706260 1 12336785 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_P1047L,Missense_P1047L exm16403 1 12336817 [C/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_L1058V,Missense_L1058V exm16404 1 12336823 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_D1060N,Missense_D1060N exm16429 1 12337667 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_S1341L,Missense_S1341L exm16432 1 12337694 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R1350Q,Missense_R1350Q exm16439 1 12337888 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_D1415N,Missense_D1415N exm16448 1 12338083 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_H1480Y,Missense_H1480Y exm16450 1 12339619 [T/A] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_E1505V,Missense_E1505V rs3765337 1 12342599 [T/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent variant.915 1 12342760 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16460 1 12342990 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_E1611K,Missense_E1611K exm16461 1 12343030 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_I1624T,Missense_I1624T exm16480 1 12343493 [T/A] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_S1778R,Missense_S1778R 1KG_1_12343587 1 12343587 [I/D] NM_015378,NM_018156 VPS13D,VPS13D EXON exm16487 1 12343686 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_A1843T,Missense_A1843T variant.916 1 12343793 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Synonymous_K1878K,Synonymous_K1878K exm16514 1 12353732 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2002C,Missense_R2002C rs7523900 1 12363811 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16528 1 12364649 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_H2101Q,Missense_H2101Q exm16529 1 12364656 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_G2104R,Missense_G2104R exm16531 1 12364666 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T2107M,Missense_T2107M exm16532 1 12364696 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_S2117N,Missense_S2117N exm16534 1 12364752 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T2136A,Missense_T2136A exm16548 1 12371603 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2248H,Missense_R2248H exm16570 1 12378223 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_H2415Y,Missense_H2415Y exm16571 1 12378274 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2432C,Missense_R2432C exm16577 1 12379557 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T2473M,Missense_T2473M exm16584 1 12379656 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2506H,Missense_R2506H exm16589 1 12382704 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_A2606T,Missense_A2606T exm16592 1 12382749 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2621C,Missense_R2621C exm16598 1 12383814 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2656H,Missense_R2656H exm16603 1 12387776 [A/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T2688P,Missense_T2688P exm16605 1 12387797 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_A2695S,Missense_A2695S exm16606 1 12387807 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_A2698V,Missense_A2698V rs28533750 1 12391953 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16623 1 12393346 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2784H,Missense_R2784H exm16626 1 12393403 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_N2803S,Missense_N2803S exm1706360 1 12398297 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_L2854R,Silent exm16635 1 12401857 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2883C,Missense_R2858C exm16671 1 12409403 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_M3135V,Missense_M3110V exm16682 1 12416013 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_Q3246R,Missense_Q3221R exm16687 1 12416075 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R3267W,Missense_R3242W exm16693 1 12418521 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Synonymous_T3335T,Synonymous_T3310T exm2249775 1 12418521 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Synonymous_T3335T,Synonymous_T3310T exm16709 1 12423273 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_N3473S,Missense_N3448S exm16710 1 12423276 [A/T] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_K3474M,Missense_K3449M exm16715 1 12428632 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_D3520Y,Missense_D3495Y exm16718 1 12429585 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_M3546V,Missense_M3521V exm16722 1 12429702 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R3585W,Missense_R3560W exm16730 1 12438584 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R3674C,Missense_R3649C exm1706546 1 12443168 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_M3775T,Missense_M3750T exm16748 1 12445337 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R3797W,Missense_R3772W exm16750 1 12445350 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R3801H,Missense_R3776H exm16752 1 12445407 [A/T] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_N3820I,Missense_N3795I exm16755 1 12446332 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_N3858S,Missense_N3833S exm16759 1 12460315 [C/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_I3904M,Missense_I3879M rs7547740 1 12463073 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs11801678 1 12467620 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm1706632 1 12476744 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_G4066V,Missense_G4041V rs6660365 1 12480504 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16791 1 12520282 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_I4165V,Missense_I4140V exm16797 1 12520436 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T4216I,Missense_T4191I exm16804 1 12566989 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_V4293M,Missense_V4268M exm16808 1 12567127 [G/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_P4339A,Missense_P4314A exm16816 1 12568968 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_L4353F,Missense_L4328F rs12129750 1 12573823 [A/G] rs7521256 1 12600396 [T/C] rs6541027 1 12605011 [T/C] rs4845904 1 12619096 [A/G] rs6541035 1 12620545 [T/C] rs10864570 1 12625101 [T/C] rs4846118 1 12626549 [T/C] rs4997711 1 12627680 [T/G] kgp15181256 1 12627990 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Silent,Silent,Silent kgp15637314 1 12628067 [A/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Silent,Silent,Silent rs4580 1 12628188 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Silent,Silent,Silent exm16821 1 12628440 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_A280T,Missense_A195T,Missense_A195T exm16824 1 12632769 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_V271I,Missense_V186I,Missense_V186I 1KG_1_12632789 1 12632789 [I/D] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON exm16827 1 12632837 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_R248Q,Missense_R163Q,Missense_R163Q rs4845907 1 12637160 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent exm16834 1 12638804 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_A214T,Missense_A129T,Missense_A129T GA000260 1 12638833 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_L204P,Missense_L119P,Missense_L119P exm16842 1 12638918 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_V176M,Missense_V91M,Missense_V91M kgp6343019 1 12638964 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Synonymous_P160P,Synonymous_P75P,Synonymous_P75P rs3128461 1 12639168 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent exm16854 1 12639389 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_S131G,Missense_S46G,Missense_S46G rs12128227 1 12640081 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent rs11540058 1 12640650 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Synonymous_T80T,Silent,Silent exm1706797 1 12640678 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_R71Q,Silent,Silent rs12029485 1 12642243 [T/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent rs7535209 1 12650076 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent rs12045736 1 12654035 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent rs4846127 1 12663774 [T/C] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent rs4394668 1 12671229 [T/C] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent rs5022242 1 12671703 [T/C] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent exm16868 1 12677188 [A/G] NM_004753 DHRS3 EXON Missense_R56C kgp7821980 1 12677525 [A/G] NM_004753 DHRS3 EXON Silent rs3000896 1 12682574 [T/C] rs6699993 1 12683190 [T/G] rs12070206 1 12689692 [A/G] variant.924 1 12711140 [A/G] NM_001013630 AADACL4 Silent exm16884 1 12711205 [A/T] NM_001013630 AADACL4 EXON Missense_S78C 1KG_1_12711251 1 12711251 [I/D] NM_001013630 AADACL4 EXON rs2256901 1 12719211 [T/C] NM_001013630 AADACL4 Silent exm1707009 1 12725971 [C/G] NM_001013630 AADACL4 Silent exm16901 1 12725976 [T/C] NM_001013630 AADACL4 EXON Missense_R152C exm16903 1 12726036 [C/G] NM_001013630 AADACL4 EXON Missense_H172D exm16904 1 12726049 [A/C] NM_001013630 AADACL4 EXON Missense_A176D exm16913 1 12726169 [A/G] NM_001013630 AADACL4 EXON Missense_R216Q newrs138451476 1 12726174 [T/C] NM_001013630 AADACL4 EXON Nonsense_Q218X exm16936 1 12726435 [A/G] NM_001013630 AADACL4 EXON Missense_G305S exm1707014 1 12726464 [A/C] NM_001013630 AADACL4 EXON Missense_E314D exm16946 1 12726618 [T/C] NM_001013630 AADACL4 EXON Missense_R366C rs2265709 1 12731572 [T/C] rs2265711 1 12734774 [A/G] rs2489260 1 12741240 [A/G] exm2259759 1 12753203 [T/C] rs3010948 1 12754569 [T/C] rs3000860 1 12776218 [A/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_X13C,Silent exm16961 1 12776344 [T/A] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Synonymous_T55T,Silent rs3000858 1 12777320 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 Silent,Silent exm16963 1 12779547 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_P80L,Silent exm16968 1 12779586 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_R93H,Silent exm16969 1 12779618 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_S104P,Silent exm16970 1 12779654 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_V116M,Silent exm16973 1 12779678 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_V124I,Silent variant.928 1 12779693 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_K129E,Silent exm16975 1 12780909 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_R137H,Silent exm16979 1 12785200 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_L154S,Silent exm16992 1 12785337 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_A200T,Silent exm16993 1 12785379 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_R214W,Silent exm16994 1 12785380 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_R214Q,Silent variant.931 1 12785415 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Nonsense_Q226X,Silent exm17000 1 12785451 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_R238G,Silent exm17005 1 12785494 [T/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_C252F,Silent indel.932 1 12785542 [I/D] NM_001103170,NR_111984 AADACL3,AADACL3 EXON exm17006 1 12785608 [A/T] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_I290N,Silent exm17012 1 12785721 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_A328T,Silent exm17013 1 12785749 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_P337L,Silent exm17023 1 12785911 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_P391L,Silent rs4846143 1 12802955 [A/C] exm1707180 1 12806478 [T/G] NM_152290,NM_001330361 C1orf158,C1orf158 EXON Nonsense_E34X,Nonsense_E34X rs11809649 1 12808591 [A/G] NM_152290,NM_001330361 C1orf158,C1orf158 Silent,Silent exm17034 1 12815668 [A/G] NM_152290,NM_001330361 C1orf158,C1orf158 EXON Missense_K44E,Silent newrs147495703 1 12815677 [T/C] NM_152290,NM_001330361 C1orf158,C1orf158 EXON Nonsense_Q47X,Silent exm17037 1 12815677 [T/C] NM_152290,NM_001330361 C1orf158,C1orf158 EXON Nonsense_Q47X,Silent rs10746500 1 12816316 [T/C] NM_152290,NM_001330361 C1orf158,C1orf158 Silent,Silent exm17056 1 12819421 [A/G] NM_152290,NM_001330361 C1orf158,C1orf158 Silent,Silent exm17057 1 12820715 [A/G] NM_152290,NM_001330361 C1orf158,C1orf158 EXON Missense_N139S,Missense_N101S exm17060 1 12820808 [T/C] NM_152290,NM_001330361 C1orf158,C1orf158 EXON Missense_P170L,Missense_P132L exm17066 1 12820870 [T/C] NM_152290,NM_001330361 C1orf158,C1orf158 EXON Missense_F191L,Missense_F153L rs2359533 1 12824223 [A/G] rs1008477 1 12829219 [T/G] rs11121976 1 12833428 [T/C] exm17071 1 12835144 [T/C] NM_001080830 PRAMEF12 EXON Missense_T45I exm17074 1 12835158 [A/G] NM_001080830 PRAMEF12 EXON Missense_E50K exm17075 1 12835168 [A/C] NM_001080830 PRAMEF12 EXON Missense_T53K exm17076 1 12835186 [C/G] NM_001080830 PRAMEF12 EXON Missense_W59S exm17077 1 12835240 [A/T] NM_001080830 PRAMEF12 EXON Missense_I77N variant.939 1 12835245 [T/C] NM_001080830 PRAMEF12 EXON Nonsense_R79X indel.940 1 12835693 [I/D] NM_001080830 PRAMEF12 EXON exm1707255 1 12835739 [G/C] NM_001080830 PRAMEF12 EXON Missense_G114A exm17090 1 12835805 [C/G] NM_001080830 PRAMEF12 EXON Missense_C136S exm17094 1 12835868 [T/C] NM_001080830 PRAMEF12 EXON Missense_M157T exm2230980 1 12835927 [T/C] NM_001080830 PRAMEF12 EXON Missense_H177Y exm17098 1 12835930 [A/G] NM_001080830 PRAMEF12 EXON Missense_V178M exm17099 1 12835933 [T/C] NM_001080830 PRAMEF12 EXON Missense_C179R exm17111 1 12836101 [A/C] NM_001080830 PRAMEF12 EXON Missense_L235I exm17119 1 12837153 [A/G] NM_001080830 PRAMEF12 Silent exm1707263 1 12837222 [A/G] NM_001080830 PRAMEF12 EXON Missense_H311R exm17124 1 12837239 [A/G] NM_001080830 PRAMEF12 EXON Missense_S317G exm17127 1 12837311 [A/G] NM_001080830 PRAMEF12 EXON Missense_V341I exm17129 1 12837331 [T/G] NM_001080830 PRAMEF12 EXON Missense_E347D exm17134 1 12837372 [T/A] NM_001080830 PRAMEF12 EXON Missense_V361E exm17152 1 12837570 [A/G] NM_001080830 PRAMEF12 EXON Missense_G427E rs848578 1 12837634 [T/A] NM_001080830 PRAMEF12 EXON Synonymous_I448I exm17162 1 12837669 [T/G] NM_001080830 PRAMEF12 EXON Missense_G460V exm17166 1 12837720 [A/G] NM_001080830 PRAMEF12 EXON Missense_C477Y exm17168 1 12837728 [A/G] NM_001080830 PRAMEF12 EXON Missense_G480S exm17220 1 12854354 [A/C] NM_023013 PRAMEF1 EXON Missense_K193T exm17235 1 12854507 [A/G] NM_023013 PRAMEF1 EXON Missense_H244R rs848428 1 12866590 [T/C] exm2268651 1 12866899 [T/G] rs864728 1 12871327 [T/G] rs4845917 1 12880153 [T/C] indel.946 1 12885336 [D/I] NM_001146344 PRAMEF11 EXON exm17346 1 12887332 [A/C] NM_001146344 PRAMEF11 EXON Missense_S217I exm17419 1 12907683 [A/G] NM_001013631,NM_001302551,NM_001146181 HNRNPCL1,HNRNPCL4,HNRNPCL3 EXON Nonsense_R154X,Nonsense_R154X,Nonsense_R154X exm17420 1 12907689 [T/A] NM_001013631,NM_001302551,NM_001146181 HNRNPCL1,HNRNPCL4,HNRNPCL3 EXON Missense_T152S,Missense_T152S,Missense_T152S indel.947 1 12908065 [I/D] NM_001013631,NM_001302551,NM_001146181 HNRNPCL1,HNRNPCL4,HNRNPCL3 EXON exm17491 1 12919081 [T/C] NM_023014 PRAMEF2 EXON Missense_L73F exm17499 1 12919111 [A/G] NM_023014 PRAMEF2 EXON Missense_E83K exm17540 1 12919838 [A/C] NM_023014 PRAMEF2 EXON Missense_K193T exm17543 1 12919872 [T/G] NM_023014 PRAMEF2 EXON Missense_I204M exm17545 1 12919889 [T/G] NM_023014 PRAMEF2 EXON Missense_L210R exm17546 1 12919891 [T/G] NM_023014 PRAMEF2 EXON Nonsense_E211X exm17550 1 12919928 [A/G] NM_023014 PRAMEF2 EXON Missense_K223R exm17559 1 12919994 [A/C] NM_023014 PRAMEF2 EXON Missense_Y245S exm17566 1 12920053 [A/G] NM_023014 PRAMEF2 EXON Missense_R265G exm17582 1 12921110 [A/G] NM_023014 PRAMEF2 EXON Missense_T301A exm17585 1 12921114 [A/G] NM_023014 PRAMEF2 EXON Missense_C302Y exm17589 1 12921132 [A/G] NM_023014 PRAMEF2 EXON Missense_E308G exm17593 1 12921156 [A/T] NM_023014 PRAMEF2 EXON Missense_F316Y exm17603 1 12921246 [A/G] NM_023014 PRAMEF2 EXON Missense_K346R exm1707418 1 12921252 [T/C] NM_023014 PRAMEF2 EXON Missense_A348V exm17605 1 12921254 [A/G] NM_023014 PRAMEF2 EXON Missense_A349T exm17606 1 12921255 [T/C] NM_023014 PRAMEF2 EXON Missense_A349V exm17609 1 12921272 [A/G] NM_023014 PRAMEF2 EXON Missense_V355M exm17612 1 12921278 [A/G] NM_023014 PRAMEF2 EXON Missense_E357K exm17613 1 12921311 [A/G] NM_023014 PRAMEF2 EXON Missense_A368T kgp11050191 1 13171847 [A/G] rs28488227 1 13176463 [A/G] exm18068 1 13183015 [C/G] NM_001136561 HNRNPCL2 EXON Missense_S286R exm18070 1 13183032 [T/C] NM_001136561 HNRNPCL2 EXON Missense_E281K exm18071 1 13183045 [A/C] NM_001136561 HNRNPCL2 EXON Missense_D276E exm18072 1 13183046 [T/C] NM_001136561 HNRNPCL2 EXON Missense_D276G rs28653054 1 13185690 [A/G] kgp3971131 1 13187294 [T/C] indel.955 1 13497778 [I/D] NM_001099850,NM_001099851 PRAMEF18,PRAMEF17 EXON rs1776379 1 13548974 [T/C] NM_001099850 PRAMEF18 Silent kgp11372041 1 13549552 [T/G] NM_001099850 PRAMEF18 Silent rs10927559 1 13775026 [T/G] rs11580598 1 13783354 [T/C] rs2999877 1 13785062 [A/G] rs2999878 1 13786622 [T/C] rs10803324 1 13787005 [T/G] rs12036704 1 13792898 [T/C] rs3013083 1 13793207 [A/G] rs3013087 1 13793635 [T/G] exm18547 1 13802325 [T/C] NM_001010847 LRRC38 EXON Missense_K292E exm18549 1 13802373 [A/G] NM_001010847 LRRC38 EXON Missense_L276F rs454765 1 13813462 [T/G] NM_001010847 LRRC38 Silent rs6680362 1 13814103 [A/G] NM_001010847 LRRC38 Silent rs3013045 1 13816121 [A/G] NM_001010847 LRRC38 Silent rs11578529 1 13822397 [A/G] NM_001010847 LRRC38 Silent rs2990678 1 13837213 [T/C] NM_001010847 LRRC38 Silent exm18560 1 13839770 [T/C] NM_001010847 LRRC38 EXON Missense_V107M rs2999865 1 13841295 [A/G] exm2264988 1 13842586 [A/G] rs4345799 1 13851036 [T/G] rs2168201 1 13852683 [A/G] rs3856278 1 13859570 [A/G] rs444516 1 13870966 [T/C] rs6684199 1 13880522 [A/G] rs12042662 1 13885279 [A/G] rs355022 1 13908690 [T/C] rs12757529 1 13909211 [A/G] exm18565 1 13910346 [T/C] NM_006474,NM_198389 PDPN,PDPN EXON Missense_R16W,Missense_R16W exm18566 1 13910353 [A/C] NM_006474,NM_198389 PDPN,PDPN EXON Missense_P18H,Missense_P18H exm18573 1 13910419 [G/C] NM_006474,NM_198389 PDPN,PDPN EXON Missense_P40R,Missense_P40R exm18576 1 13910521 [T/C] NM_006474,NM_198389 PDPN,PDPN EXON Missense_T74M,Missense_T74M rs355028 1 13913180 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs10927904 1 13914909 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs7514217 1 13922799 [A/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent exm18587 1 13933727 [A/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN EXON Missense_M119V,Missense_M119V,Missense_M1V,Missense_M1V exm1709179 1 13936955 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN EXON Missense_A168V,Missense_A168V,Missense_A50V,Missense_A50V rs1412839 1 13938511 [A/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs3820304 1 13938788 [A/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent exm18606 1 13940864 [G/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN EXON Missense_A223G,Missense_A223G,Missense_A105G,Missense_A105G variant.964 1 13940884 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN EXON Nonsense_R230X,Nonsense_R230X,Nonsense_R112X,Nonsense_R112X variant.965 1 13940906 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN EXON Missense_S237L,Silent,Missense_S119L,Silent rs876931 1 13944568 [T/C] rs6703700 1 13946586 [A/G] rs7515525 1 13952864 [T/G] rs10927926 1 13966218 [A/G] rs16852640 1 13971360 [A/G] rs4662010 1 14001018 [T/C] rs4077841 1 14020405 [T/C] rs2495060 1 14032007 [A/G] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 EXON Silent,Silent,Silent rs2487622 1 14033128 [A/G] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 Silent,Silent,Silent exm18628 1 14059374 [A/G] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 EXON Nonsense_W76X,Nonsense_W76X,Nonsense_W76X exm2231025 1 14068545 [C/G] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 EXON Missense_P93A,Missense_P93A,Missense_P93A exm18641 1 14075946 [C/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Missense_A159P,Missense_A159P,Missense_A159P,Silent exm18642 1 14075947 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Missense_A159V,Missense_A159V,Missense_A159V,Silent rs2359756 1 14096420 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 Silent,Silent,Silent,Silent exm-rs1210110 1 14096821 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 Silent,Silent,Silent,Silent exm18645 1 14099574 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Synonymous_G171G,Synonymous_G171G,Silent exm18656 1 14105049 [A/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D253E,Missense_D253E,Missense_D52E exm18657 1 14105062 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A258T,Missense_A258T,Missense_A57T exm18664 1 14105139 [A/T] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D283E,Missense_D283E,Missense_D82E exm18666 1 14105142 [A/T] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D284E,Missense_D284E,Missense_D83E exm18668 1 14105222 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_R311Q,Missense_R311Q,Missense_R110Q exm18671 1 14105291 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_C334Y,Missense_C334Y,Missense_C133Y exm18684 1 14105605 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_N439D,Missense_N439D,Missense_N238D indel.970 1 14105635 [D/I] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON exm18687 1 14105639 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S450N,Missense_S450N,Missense_S249N exm18688 1 14105677 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A463T,Missense_A463T,Missense_A262T exm18692 1 14105726 [T/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_V479G,Missense_V479G,Missense_V278G exm18712 1 14106145 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_P619S,Missense_P619S,Missense_P418S 1KG_1_14106394 1 14106394 [D/I] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON exm18722 1 14106400 [C/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A704P,Missense_A704P,Missense_A503P exm18728 1 14106457 [T/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A723S,Missense_A723S,Missense_A522S exm18729 1 14106463 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_M725V,Missense_M725V,Missense_M524V exm18735 1 14106620 [C/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S777T,Missense_S777T,Missense_S576T exm18736 1 14106623 [A/T] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_H778L,Missense_H778L,Missense_H577L exm18738 1 14106705 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_M805I,Missense_M805I,Missense_M604I exm18750 1 14107112 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_T941I,Missense_T941I,Missense_T740I exm18751 1 14107135 [C/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_P949A,Missense_P949A,Missense_P748A exm18757 1 14107195 [T/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D969Y,Missense_D969Y,Missense_D768Y exm18762 1 14107267 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_V993I,Missense_V993I,Missense_V792I exm18766 1 14107360 [A/T] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S1024T,Missense_S1024T,Missense_S823T exm18773 1 14107544 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_V1085A,Missense_V1085A,Missense_V884A exm18776 1 14107568 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A1093V,Missense_A1093V,Missense_A892V exm18780 1 14107643 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S1118F,Missense_S1118F,Missense_S917F exm18782 1 14107658 [T/A] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D1123V,Missense_D1123V,Missense_D922V indel.971 1 14108187 [D/I] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON exm2275424 1 14108437 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_V1383M,Missense_V1383M,Missense_V1182M exm18809 1 14108496 [G/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_R1402S,Missense_R1402S,Missense_R1201S indel.972 1 14108627 [D/I] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON exm18821 1 14108749 [A/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_K1487Q,Missense_K1487Q,Missense_K1286Q exm18825 1 14108821 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S1511G,Missense_S1511G,Missense_S1310G exm18833 1 14108975 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S1562L,Missense_S1562L,Missense_S1361L exm18838 1 14109031 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_M1581V,Missense_M1581V,Missense_M1380V exm18841 1 14109080 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_K1597R,Missense_K1597R,Missense_K1396R exm18842 1 14109084 [T/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_N1598K,Missense_N1598K,Missense_N1397K rs1203651 1 14109114 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Synonymous_S1608S,Synonymous_S1608S,Synonymous_S1407S exm18849 1 14109122 [T/A] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_L1611Q,Missense_L1611Q,Missense_L1410Q exm18850 1 14109125 [A/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_H1612P,Missense_H1612P,Missense_H1411P exm18856 1 14109197 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_R1636Q,Missense_R1636Q,Missense_R1435Q exm18857 1 14109226 [C/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_G1646R,Missense_G1646R,Missense_G1445R exm18859 1 14109322 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_F1678L,Missense_F1678L,Missense_F1477L rs1203638 1 14121892 [T/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs2281170 1 14124098 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs2244634 1 14134154 [T/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent exm2231030 1 14142940 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Missense_R177H,Synonymous_A1685A exm1709424 1 14142960 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Missense_R184W,Missense_A1692V exm18869 1 14143002 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Nonsense_Q198X,Missense_P1706L exm18870 1 14143003 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Missense_Q198R,Synonymous_P1706P rs2235514 1 14146935 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs2697971 1 14148441 [T/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent exm18873 1 14149668 [T/G] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Missense_W224G,Silent exm18874 1 14149672 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Missense_N225S,Silent rs2697964 1 14150709 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Silent,Silent rs2903 1 14151506 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Silent,Silent rs7530376 1 14158776 [A/G] rs982510 1 14160754 [A/G] rs12049581 1 14163485 [T/G] rs1203683 1 14164286 [A/C] rs1973904 1 14170060 [A/C] rs720035 1 14190669 [A/G] rs1203660 1 14192526 [A/G] rs16853069 1 14196212 [T/C] rs9287293 1 14208571 [A/G] rs1203698 1 14209336 [A/G] rs10737914 1 14210730 [T/G] rs1528786 1 14214412 [A/G] rs2744652 1 14216203 [T/C] rs760911 1 14218438 [A/G] rs2744647 1 14220942 [A/G] rs2038095 1 14224999 [A/G] rs1203709 1 14228490 [T/G] rs6697531 1 14234944 [T/G] rs12122426 1 14240350 [A/C] rs10803436 1 14245737 [A/G] rs7542884 1 14252372 [T/G] rs10927959 1 14253821 [A/G] rs7535502 1 14255847 [A/G] rs12123612 1 14255863 [A/G] rs2206585 1 14261909 [T/G] rs2359896 1 14280562 [A/G] exm2249847 1 14281451 [T/C] rs12118400 1 14290847 [A/G] rs10927972 1 14297110 [A/G] rs12024045 1 14297220 [A/G] rs16853319 1 14301942 [T/C] rs12059926 1 14302883 [T/C] rs2359899 1 14303160 [A/G] rs4661462 1 14311056 [A/G] rs12072002 1 14315141 [A/C] rs6681501 1 14320502 [T/G] rs12129723 1 14331940 [A/G] rs12566758 1 14338807 [T/C] rs16853407 1 14341876 [T/C] rs7520101 1 14346629 [A/G] rs932407 1 14348533 [A/G] rs2206586 1 14359224 [T/C] rs7414562 1 14359780 [A/G] exm-rs7414562 1 14359780 [A/G] rs2359908 1 14364575 [T/C] rs2294811 1 14365793 [A/C] rs4662089 1 14368289 [A/G] rs12061818 1 14372058 [A/G] rs10754907 1 14372163 [T/C] rs2246175 1 14401350 [T/G] rs4661470 1 14407802 [T/G] rs10928004 1 14418448 [T/C] rs16853588 1 14425555 [T/C] rs7534460 1 14426751 [A/G] rs10928009 1 14433775 [T/C] rs6664213 1 14440141 [T/G] rs4662105 1 14448184 [T/C] rs2359942 1 14449136 [T/C] rs717538 1 14457230 [A/C] rs6671072 1 14463067 [A/G] rs10803459 1 14464167 [T/C] rs4661477 1 14467720 [T/C] rs12758112 1 14473926 [A/G] rs17353931 1 14476490 [A/G] rs10928043 1 14487284 [T/C] rs7546077 1 14489962 [A/G] rs9803674 1 14490497 [T/C] rs10803470 1 14492478 [T/C] rs7541978 1 14493845 [A/G] rs6692372 1 14495162 [A/G] rs12568548 1 14496787 [A/G] rs10754914 1 14507739 [A/G] rs12736419 1 14509334 [T/C] rs565765 1 14512986 [A/G] rs641343 1 14518979 [A/G] rs647287 1 14539152 [A/G] rs2027315 1 14547727 [T/C] rs10157045 1 14575084 [A/G] rs10158007 1 14575256 [T/C] exm2264989 1 14579733 [A/G] rs6668555 1 14579742 [T/C] rs12403871 1 14583472 [A/G] rs4662139 1 14586879 [A/G] rs12406699 1 14598055 [T/C] rs7555815 1 14603198 [T/C] rs6683535 1 14612723 [A/C] rs1416628 1 14621842 [T/C] rs946481 1 14635852 [A/C] rs1416623 1 14649876 [T/C] rs16853960 1 14655424 [A/G] rs820626 1 14657100 [T/G] rs703801 1 14663626 [T/C] rs2789746 1 14673025 [A/G] rs7355173 1 14676909 [T/C] NR_149058 KAZN-AS1 Silent rs10803271 1 14700829 [T/C] NR_149058 KAZN-AS1 Silent rs11590846 1 14703854 [T/C] NR_149058 KAZN-AS1 Silent rs735832 1 14704676 [T/C] NR_149058 KAZN-AS1 Silent rs7527767 1 14718957 [T/C] NR_149058 KAZN-AS1 Silent rs12405445 1 14732019 [T/C] NR_149058 KAZN-AS1 Silent rs3928343 1 14740155 [T/C] NR_149058 KAZN-AS1 Silent rs12119451 1 14744591 [A/G] NR_149058 KAZN-AS1 Silent rs10754856 1 14755827 [T/C] rs2183102 1 14760634 [A/G] rs6658316 1 14775805 [T/C] rs6658744 1 14776392 [A/C] rs16850259 1 14777904 [T/G] rs6429661 1 14780811 [A/C] rs6682103 1 14782380 [T/G] rs4661496 1 14790631 [T/C] rs2486774 1 14800247 [T/C] exm-rs7555566 1 14804874 [A/G] rs2486764 1 14806750 [T/C] rs2486762 1 14807686 [T/C] rs2480061 1 14808756 [T/G] rs12129734 1 14819757 [A/G] rs12031064 1 14823637 [A/G] rs12733612 1 14826029 [A/G] rs10803285 1 14830984 [A/C] rs10733135 1 14831066 [A/G] rs11807837 1 14841189 [A/C] rs12138326 1 14845459 [A/G] rs3892594 1 14849088 [T/C] rs12044865 1 14853297 [A/G] rs2105239 1 14857643 [A/G] rs1890784 1 14863561 [A/C] rs10927460 1 14870568 [A/G] rs4385705 1 14876032 [A/G] rs17403250 1 14883844 [A/G] rs10927468 1 14901191 [A/G] rs6685406 1 14910920 [A/G] rs4661292 1 14915147 [A/G] rs10803289 1 14934220 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs11579756 1 14947920 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2103695 1 14955157 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6699411 1 14978291 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs761191 1 14981920 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs1028389 1 14994487 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6701296 1 14998872 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2871581 1 15009937 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs7534010 1 15032340 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs4661514 1 15033508 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs7516095 1 15039411 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2050126 1 15056175 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs1997762 1 15067407 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6660333 1 15068997 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6429674 1 15072614 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6661767 1 15077567 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs4357518 1 15080560 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs4543785 1 15089767 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs732469 1 15093562 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs804125 1 15111927 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs1721829 1 15117060 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs1737349 1 15124318 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs804130 1 15125699 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12568933 1 15127627 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6671788 1 15130227 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs3845590 1 15138738 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs10489354 1 15144305 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs11585327 1 15167003 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2103116 1 15185229 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs3845596 1 15189299 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2803399 1 15192559 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12564579 1 15197814 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs4661540 1 15202204 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2690024 1 15211824 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12029721 1 15216489 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2489772 1 15244761 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12568821 1 15257426 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent rs10927583 1 15258425 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent rs6693394 1 15265404 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent rs16851049 1 15276526 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs7514440 1 15283217 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs11485048 1 15285044 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent exm2264990 1 15286096 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs6429696 1 15286805 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent exm18885 1 15287201 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_S83L,Missense_S83L,Missense_S77L,Silent,Silent rs1398823 1 15289376 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs10754875 1 15294031 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs12084008 1 15303970 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs7522712 1 15307478 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs12409399 1 15317488 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs4661310 1 15320449 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs1316257 1 15323416 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs7529561 1 15328151 [A/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs16851112 1 15328697 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs10927627 1 15331802 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs6429703 1 15339960 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs4661563 1 15341413 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs10927631 1 15346330 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs6667220 1 15347640 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs6684496 1 15352820 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs4520412 1 15359967 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs6674129 1 15363223 [A/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs12139386 1 15365648 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs10927653 1 15368553 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent exm1715736 1 15370498 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_A190V,Missense_A190V,Missense_A184V,Missense_A96V,Missense_A96V exm18935 1 15370588 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_T220M,Missense_T220M,Missense_T214M,Missense_T126M,Missense_T126M rs761288 1 15377687 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent exm18940 1 15382587 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_A243T,Missense_A243T,Missense_A237T,Missense_A149T,Missense_A149T exm18952 1 15382771 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_R304Q,Missense_R304Q,Missense_R298Q,Missense_R210Q,Missense_R210Q rs2076566 1 15389862 [A/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs12057431 1 15392450 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Silent,Silent,Silent,Silent,Silent rs9943244 1 15395881 [A/C] NM_201628 KAZN Silent rs16851241 1 15401158 [A/C] NM_201628 KAZN Silent rs4661572 1 15402156 [A/G] NM_201628 KAZN Silent rs2175774 1 15406696 [A/G] NM_201628 KAZN Silent rs6669698 1 15411661 [A/G] NM_201628 KAZN Silent rs10927670 1 15412415 [T/G] NM_201628 KAZN Silent rs4661575 1 15414413 [T/C] NM_201628 KAZN Silent exm18990 1 15420846 [A/G] NM_201628 KAZN EXON Missense_V465I exm18992 1 15420859 [T/C] NM_201628 KAZN EXON Missense_T469M exm18998 1 15428057 [T/G] NM_201628 KAZN EXON Missense_E522D exm19005 1 15429876 [T/C] NM_201628 KAZN EXON Missense_R601C exm19006 1 15429886 [T/C] NM_201628 KAZN EXON Missense_T604M exm19016 1 15430666 [A/G] NM_201628 KAZN EXON Missense_A677T rs494983 1 15431657 [T/G] NM_201628 KAZN Silent rs496567 1 15435257 [A/G] NM_201628 KAZN Silent exm19021 1 15438981 [A/G] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Missense_V703I,Silent exm19023 1 15438990 [A/G] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Missense_A706T,Silent exm19024 1 15439009 [A/G] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Missense_S712N,Silent exm19032 1 15441090 [T/C] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Missense_R763C,Silent rs2235789 1 15442058 [T/C] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Silent,Silent rs2235784 1 15444288 [T/C] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Silent,Silent rs13375820 1 15446168 [A/G] NR_027136 TMEM51-AS1 Silent rs2206761 1 15466832 [T/C] NR_027136 TMEM51-AS1 Silent rs6429711 1 15467263 [T/C] NR_027136 TMEM51-AS1 Silent rs761301 1 15471992 [T/G] NR_027136 TMEM51-AS1 Silent rs1883761 1 15477865 [A/G] NR_027136 TMEM51-AS1 Silent rs4661582 1 15482932 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs10489452 1 15489884 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs7540957 1 15492032 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218,NM_001278502 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,C1orf195 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16851354 1 15495620 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218,NM_001278502,NM_001278501 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,C1orf195,C1orf195 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4436387 1 15498452 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs16851358 1 15500332 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs10927698 1 15504403 [T/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs12145963 1 15507197 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs4661594 1 15507952 [T/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs11588628 1 15512222 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs10927709 1 15516299 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs16851387 1 15518792 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs742671 1 15519417 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs2050233 1 15528487 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs7536482 1 15530260 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs12028875 1 15530336 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs12070469 1 15537122 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs1316533 1 15539483 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs6429728 1 15540685 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent exm19048 1 15541621 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_A13V,Missense_A13V,Missense_A13V,Silent,Missense_A13V,Missense_A13V exm19052 1 15541704 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_E41K,Missense_E41K,Missense_E41K,Silent,Missense_E41K,Missense_E41K rs12057512 1 15544366 [A/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent exm19065 1 15545979 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_D168N,Missense_D168N,Silent,Silent,Missense_D168N,Missense_D168N exm19066 1 15545997 [T/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_S174A,Missense_S174A,Silent,Silent,Missense_S174A,Missense_S174A exm19068 1 15546012 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_V179M,Missense_V179M,Silent,Silent,Missense_V179M,Missense_V179M indel.979 1 15546052 [I/D] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON exm19077 1 15546150 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_V225I,Missense_V225I,Silent,Silent,Missense_V225I,Missense_V225I exm19080 1 15546219 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_D248N,Missense_D248N,Silent,Silent,Missense_D248N,Missense_D248N exm19084 1 15546234 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_D253N,Missense_D253N,Silent,Silent,Missense_D253N,Missense_D253N exm2249987 1 15546761 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Silent,Silent,Silent,Silent,Silent,Silent rs10803369 1 15550525 [A/C] rs6429732 1 15558938 [T/C] rs12034146 1 15561181 [T/C] rs4644485 1 15566803 [T/C] exm19088 1 15578302 [A/G] NM_052929 FHAD1 EXON Missense_A8T rs16851480 1 15583819 [T/C] NM_052929 FHAD1 Silent rs7520597 1 15585613 [T/G] NM_052929 FHAD1 Silent rs6676098 1 15588759 [T/C] NM_052929 FHAD1 Silent rs10927753 1 15591929 [T/C] NM_052929 FHAD1 Silent rs4661617 1 15593666 [T/C] NM_052929 FHAD1 Silent exm19091 1 15599025 [A/G] NM_052929 FHAD1 EXON Synonymous_P100P rs10927758 1 15600085 [A/G] NM_052929 FHAD1 Silent rs10927764 1 15606453 [T/C] NM_052929 FHAD1 Silent rs572953 1 15609117 [T/G] NM_052929 FHAD1 Silent rs10927765 1 15610004 [T/C] NM_052929 FHAD1 Silent exm19096 1 15616087 [T/C] NM_052929 FHAD1 EXON Missense_R165W exm19101 1 15616139 [A/G] NM_052929 FHAD1 EXON Missense_R182H exm19102 1 15616150 [A/G] NM_052929 FHAD1 EXON Missense_V186I exm19105 1 15623224 [T/G] NM_052929 FHAD1 EXON Missense_G205W exm19108 1 15627776 [A/G] NM_052929 FHAD1 EXON Missense_V252I exm19109 1 15627824 [A/G] NM_052929 FHAD1 EXON Missense_V268M exm19112 1 15627910 [G/C] NM_052929 FHAD1 EXON Missense_Q296H exm19113 1 15635136 [A/C] NM_052929 FHAD1 EXON Missense_K315Q exm19118 1 15639551 [A/G] NM_052929 FHAD1 Silent variant.981 1 15639551 [A/G] NM_052929 FHAD1 Silent exm19119 1 15639581 [A/G] NM_052929 FHAD1 EXON Missense_I356M newrs138323342 1 15642963 [T/C] NM_052929 FHAD1 EXON Synonymous_T420T exm19124 1 15642964 [A/G] NM_052929 FHAD1 Silent rs477590 1 15643218 [A/G] NM_052929 FHAD1 Silent rs7554324 1 15644729 [A/C] NM_052929 FHAD1 Silent rs3765356 1 15651062 [A/G] NM_052929 FHAD1 Silent exm19127 1 15653555 [G/C] NM_052929,NR_148919,NR_148918 FHAD1,LOC101927417,LOC101927417 EXON Missense_L492V,Silent,Silent exm19139 1 15655944 [A/G] NM_052929,NR_148919,NR_148918 FHAD1,LOC101927417,LOC101927417 EXON Missense_V605M,Silent,Silent exm19145 1 15668276 [A/G] NM_052929,NR_148919,NR_148918 FHAD1,LOC101927417,LOC101927417 EXON Missense_G651R,Silent,Silent exm19147 1 15668319 [A/G] NM_052929,NR_148919,NR_148918 FHAD1,LOC101927417,LOC101927417 EXON Missense_R665Q,Silent,Silent exm19151 1 15671649 [T/C] NM_052929 FHAD1 EXON Missense_M712T exm19158 1 15679403 [T/C] NM_052929 FHAD1 EXON Missense_R807C exm19159 1 15679404 [A/G] NM_052929 FHAD1 EXON Missense_R807H rs2473358 1 15680451 [T/G] NM_052929 FHAD1 Silent exm19162 1 15684661 [G/C] NM_052929 FHAD1 EXON Missense_A851G exm19163 1 15684760 [A/G] NM_052929 FHAD1 EXON Missense_E884G exm19172 1 15687059 [A/G] NM_052929 FHAD1 EXON Missense_E919G rs542008 1 15687814 [A/G] NM_052929 FHAD1 Silent exm19179 1 15689182 [A/T] NM_052929 FHAD1 EXON Missense_T981S exm19184 1 15694072 [A/G] NM_052929 FHAD1 EXON Missense_V1068I rs876295 1 15697183 [A/G] NM_052929 FHAD1 Silent variant.986 1 15701094 [T/C] NM_052929 FHAD1 EXON Nonsense_R1160X exm19195 1 15701116 [T/C] NM_052929 FHAD1 EXON Missense_A1167V rs742365 1 15705031 [A/G] NM_052929 FHAD1 Silent exm19206 1 15707775 [A/G] NM_052929 FHAD1 EXON Missense_M1262V exm19207 1 15707853 [A/G] NM_052929 FHAD1 EXON Missense_D1288N exm19210 1 15708540 [A/G] NM_052929 FHAD1 EXON Missense_I1325V rs1010294 1 15708540 [A/G] NM_052929 FHAD1 EXON Missense_I1325V rs742361 1 15726566 [A/G] rs733887 1 15732793 [A/G] rs2092324 1 15733394 [A/G] rs7525279 1 15745380 [T/C] NM_024329 EFHD2 Silent exm19232 1 15753662 [A/G] NM_024329 EFHD2 EXON Missense_R158H rs6693417 1 15763340 [A/G] exm19258 1 15766865 [A/G] NM_007272 CTRC EXON Missense_R37Q exm19262 1 15767020 [A/G] NM_007272 CTRC EXON Nonsense_W55X rs10436957 1 15768304 [A/G] NM_007272 CTRC Silent exm19275 1 15769069 [A/G] NM_007272 CTRC Silent exm19285 1 15771121 [A/G] NM_007272 CTRC EXON Missense_K172E exm19296 1 15772155 [A/G] NM_007272 CTRC EXON Missense_V235I exm19300 1 15772188 [T/C] NM_007272 CTRC EXON Missense_R246C exm19302 1 15772198 [T/C] NM_007272 CTRC EXON Missense_P249L exm19304 1 15772212 [T/C] NM_007272 CTRC EXON Missense_R254W exm19322 1 15783635 [A/G] NM_033440 CELA2A EXON Missense_G32D rs7547591 1 15788789 [A/G] NM_033440 CELA2A Silent exm19338 1 15789260 [A/G] NM_033440 CELA2A EXON Missense_R87Q exm1720476 1 15789274 [A/G] NM_033440 CELA2A EXON Missense_V92I indel.1004 1 15789294 [I/D] NM_033440 CELA2A EXON exm19345 1 15789304 [T/G] NM_033440 CELA2A EXON Missense_V102F variant.1005 1 15789361 [A/G] NM_033440 CELA2A Silent exm-rs2901964 1 15792426 [C/G] NM_033440 CELA2A Silent exm19366 1 15792497 [A/G] NM_033440 CELA2A EXON Missense_N166S exm19367 1 15792568 [A/G] NM_033440 CELA2A EXON Missense_A190T exm19368 1 15792586 [A/G] NM_033440 CELA2A EXON Missense_V196M exm19374 1 15793924 [A/G] NM_033440 CELA2A EXON Missense_R228Q exm19385 1 15794011 [A/G] NM_033440 CELA2A EXON Missense_N257S exm19386 1 15794032 [T/C] NM_033440 CELA2A EXON Missense_S264L rs7556116 1 15796714 [A/G] NM_033440 CELA2A Silent rs10927791 1 15796808 [T/C] NM_033440 CELA2A Silent rs3820071 1 15808767 [A/G] NM_015849 CELA2B EXON Missense_G79R exm19422 1 15808767 [A/G] NM_015849 CELA2B EXON Missense_G79R exm19431 1 15808872 [A/G] NM_015849 CELA2B EXON Missense_D114N rs12130370 1 15810624 [T/C] NM_015849 CELA2B Silent exm19439 1 15812401 [A/G] NM_015849 CELA2B EXON Missense_G167R exm19441 1 15812432 [A/G] NM_015849 CELA2B EXON Missense_Q177R exm19457 1 15813843 [A/G] NM_015849 CELA2B EXON Missense_G235S exm19458 1 15813844 [T/G] NM_015849 CELA2B EXON Missense_G235V exm19460 1 15813891 [A/G] NM_015849 CELA2B EXON Missense_I251V exm19463 1 15813922 [A/G] NM_015849 CELA2B EXON Nonsense_W261X exm19473 1 15820448 [T/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_T366N,Silent,Missense_T216N,Missense_T283N rs4646092 1 15821673 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 Silent,Silent,Silent,Silent,Silent rs6685648 1 15825195 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 Silent,Silent,Silent,Silent,Silent exm19495 1 15832495 [T/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_H237P,Silent,Silent,Missense_H154P exm19502 1 15832543 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_Q221R,Silent,Silent,Missense_Q138R exm19507 1 15833399 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_A209T,Silent,Silent,Missense_A126T exm19511 1 15833450 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_R192C,Silent,Silent,Missense_R109C exm2277005 1 15833469 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Synonymous_I185I,Silent,Silent,Synonymous_I102I exm19516 1 15833492 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_R178C,Silent,Silent,Missense_R95C exm19521 1 15833506 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_R173H,Silent,Silent,Missense_R90H exm19525 1 15833555 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_M157V,Silent,Silent,Missense_M74V newrs138664729 1 15844605 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_G140S,Silent,Missense_E140K,Missense_G57S exm19530 1 15844606 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Synonymous_V139V,Silent,Synonymous_V139V,Synonymous_V56V indel.1014 1 15844626 [I/D] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON exm19536 1 15844653 [A/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Nonsense_E124X,Silent,Nonsense_E124X,Nonsense_E41X exm19537 1 15844655 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_P123L,Silent,Missense_P123L,Missense_P40L exm19541 1 15844718 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_T102I,Silent,Missense_T102I,Missense_T19I exm19545 1 15844755 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Nonsense_R90X,Silent,Nonsense_R90X,Nonsense_R7X exm19554 1 15844872 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_R51W,Silent,Missense_R51W,Silent exm19561 1 15850613 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_A28V,Silent,Missense_A28V,Silent exm19571 1 15855642 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Silent,Missense_I14M,Silent exm19578 1 15855760 [T/C] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Silent,Missense_R54W,Silent exm1720950 1 15855761 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Silent,Missense_R54Q,Silent rs10927796 1 15857134 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 Silent,Silent,Silent newrs11583306 1 15860803 [T/C] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 Silent,Silent,Silent variant.1017 1 15863057 [T/C] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Silent,Nonsense_R108X,Silent exm19603 1 15871023 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Silent,Missense_R235H,Silent variant.1019 1 15886024 [T/C] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Nonsense_R31X,Nonsense_R343X,Silent exm19623 1 15886040 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Missense_Q36R,Missense_Q348R,Silent newrs148404423 1 15886141 [T/C] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Nonsense_R70X,Nonsense_R382X,Silent exm19629 1 15888644 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Missense_V76M,Missense_V388M,Silent variant.1021 1 15888820 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Synonymous_A134A,Synonymous_A446A,Silent exm19633 1 15890424 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Missense_V135M,Missense_V447M,Silent exm19635 1 15890443 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Missense_R141H,Missense_R453H,Silent exm19647 1 15892577 [T/C] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Synonymous_S248S,Synonymous_S560S,Silent exm19648 1 15892578 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Missense_D249N,Missense_D561N,Silent exm2231565 1 15893676 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Missense_G309S,Missense_G621S,Silent indel.1022 1 15894671 [I/D] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON indel.1023 1 15900213 [I/D] NM_024758 AGMAT EXON indel.1024 1 15900221 [I/D] NM_024758 AGMAT exm19685 1 15900221 [T/A] NM_024758 AGMAT Silent exm2250042 1 15904318 [T/C] NM_024758 AGMAT EXON Synonymous_S254S exm19696 1 15904318 [T/C] NM_024758 AGMAT EXON Synonymous_S254S exm19700 1 15905363 [T/G] NM_024758 AGMAT EXON Missense_N237K exm19702 1 15905388 [A/G] NM_024758 AGMAT EXON Missense_T229M exm19703 1 15905400 [T/C] NM_024758 AGMAT EXON Missense_R225Q exm19704 1 15905401 [A/G] NM_024758 AGMAT EXON Missense_R225W newrs142035319 1 15906588 [T/C] NM_024758 AGMAT Silent indel.1028 1 15909687 [D/I] NM_024758 AGMAT exm19722 1 15909744 [T/C] NM_024758 AGMAT EXON Missense_R140Q exm19728 1 15909850 [G/C] NM_024758 AGMAT EXON Missense_G105R indel.1029 1 15909882 [D/I] NM_024758 AGMAT EXON rs6429759 1 15910003 [T/C] NM_024758 AGMAT Silent exm19733 1 15911206 [T/C] NM_024758 AGMAT EXON Missense_N86S rs16851855 1 15930869 [A/G] rs6697813 1 15951743 [T/G] NM_032341 DDI2 Silent exm19752 1 15953261 [A/G] NM_032341 DDI2 EXON Missense_N79S exm19760 1 15956880 [A/G] NM_032341 DDI2 EXON Missense_R110H variant.1030 1 15964934 [T/C] NM_032341 DDI2 Silent rs1980607 1 15975237 [A/G] NM_032341 DDI2 Silent exm19779 1 15978294 [T/C] NM_032341 DDI2 EXON Missense_R363W exm1721914 1 15978331 [T/C] NM_032341 DDI2 EXON Missense_P375L exm19784 1 15986365 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_M1T exm19788 1 15986442 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_M27V exm19789 1 15986454 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_R31C exm19794 1 15986574 [G/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_H71D exm19797 1 15986623 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_A87V exm19802 1 15986868 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_E169K exm19803 1 15986917 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_H185R newrs138928687 1 15986922 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Nonsense_Q187X exm19805 1 15986940 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_I193V exm19806 1 15986977 [T/A] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_N205I exm19810 1 15987052 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_A230V exm1722074 1 15987069 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_S236P indel.1032 1 15987157 [D/I] NM_032341,NM_006511 DDI2,RSC1A1 EXON exm19817 1 15987175 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_N271S exm19820 1 15987274 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_S304F variant.1034 1 15987390 [T/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Nonsense_E343X exm19825 1 15987421 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_T353M exm19834 1 15987652 [C/G] NM_006511 RSC1A1 EXON Missense_T430R exm19836 1 15987655 [T/G] NM_006511 RSC1A1 EXON Missense_G431V exm19838 1 15987709 [T/A] NM_006511 RSC1A1 EXON Missense_L449Q exm19841 1 15987724 [T/C] NM_006511 RSC1A1 EXON Missense_S454L newrs137912259 1 15987735 [T/G] NM_006511 RSC1A1 EXON Nonsense_E458X exm19842 1 15987735 [T/G] NM_006511 RSC1A1 EXON Nonsense_E458X indel.1038 1 15987798 [I/D] NM_006511 RSC1A1 EXON indel.1039 1 15987835 [I/D] NM_006511 RSC1A1 EXON exm19848 1 15987888 [A/G] NM_006511 RSC1A1 EXON Missense_E509K indel.1040 1 15987960 [D/I] NM_006511 RSC1A1 EXON exm19851 1 15987963 [C/G] NM_006511 RSC1A1 EXON Missense_D534H exm19853 1 15988041 [T/C] NM_006511 RSC1A1 EXON Missense_P560S indel.1043 1 15988100 [I/D] NM_006511 RSC1A1 EXON rs10492987 1 15993338 [A/G] rs12746773 1 16001588 [T/C] rs7546138 1 16015784 [A/G] NM_015164 PLEKHM2 Silent rs12745403 1 16041606 [T/C] NM_015164 PLEKHM2 Silent exm19870 1 16042766 [T/C] NM_015164 PLEKHM2 EXON Missense_I32T rs16851970 1 16044401 [A/G] NM_015164 PLEKHM2 EXON Synonymous_L97L exm19917 1 16053627 [T/C] NM_015164 PLEKHM2 EXON Missense_R354C exm19919 1 16053633 [A/G] NM_015164 PLEKHM2 EXON Missense_G356S exm19923 1 16053682 [T/C] NM_015164 PLEKHM2 EXON Missense_P372L exm19927 1 16053732 [T/G] NM_015164 PLEKHM2 EXON Missense_S389A exm1722835 1 16053822 [A/G] NM_015164 PLEKHM2 EXON Missense_G419R exm19933 1 16053853 [A/G] NM_015164 PLEKHM2 EXON Missense_R429H exm19935 1 16053916 [T/C] NM_015164 PLEKHM2 EXON Missense_P450L exm19944 1 16054062 [T/G] NM_015164 PLEKHM2 EXON Missense_A499S variant.1044 1 16054617 [T/C] NM_015164 PLEKHM2 EXON Nonsense_R602X exm19960 1 16054813 [A/G] NM_015164 PLEKHM2 EXON Missense_V628M variant.1045 1 16055228 [A/G] NM_015164 PLEKHM2 EXON Synonymous_S662S rs7539884 1 16055931 [T/C] NM_015164 PLEKHM2 Silent exm19976 1 16057046 [A/G] NM_015164 PLEKHM2 EXON Missense_R743H exm19979 1 16057147 [A/G] NM_015164 PLEKHM2 EXON Missense_M777V exm1722912 1 16058436 [A/G] NM_015164 PLEKHM2 EXON Missense_A840T exm19995 1 16058484 [A/G] NM_015164 PLEKHM2 EXON Missense_E856K exm2231605 1 16058989 [A/G] NM_015164 PLEKHM2 EXON Missense_V924I exm20018 1 16060330 [A/C] NM_015164 PLEKHM2 EXON Missense_N987K exm20023 1 16060413 [A/G] NM_015164 PLEKHM2 EXON Missense_R1015Q exm20028 1 16063152 [A/G] NM_207348 SLC25A34 EXON Missense_A58T exm1722968 1 16063314 [A/G] NM_207348 SLC25A34 EXON Missense_V112M exm20046 1 16064618 [T/C] NM_207348 SLC25A34 EXON Missense_R159W exm20051 1 16064670 [A/G] NM_207348 SLC25A34 EXON Missense_R176Q exm20055 1 16065136 [C/G] NM_207348 SLC25A34 EXON Missense_I215M exm1723026 1 16065144 [T/C] NM_207348 SLC25A34 EXON Missense_I218T exm20056 1 16065158 [A/G] NM_207348 SLC25A34 EXON Missense_V223I exm20061 1 16065188 [T/C] NM_207348 SLC25A34 EXON Missense_R233W exm2231606 1 16065204 [T/C] NM_207348 SLC25A34 EXON Missense_P238L exm2231608 1 16065743 [T/G] NM_207348 SLC25A34 EXON Missense_D253Y exm20072 1 16065806 [A/G] NM_207348 SLC25A34 EXON Missense_A274T exm1723035 1 16065816 [A/G] NM_207348 SLC25A34 EXON Missense_R277H exm20080 1 16065878 [T/C] NM_207348 SLC25A34 EXON Missense_R298W rs7516080 1 16067904 [T/C] NR_149050 SLC25A34-AS1 Silent rs35365738 1 16068364 [A/G] NR_149050 SLC25A34-AS1 Silent exm20090 1 16069071 [T/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_S6F exm20093 1 16069104 [T/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_L17R exm20103 1 16069525 [T/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_R58W exm20107 1 16069550 [A/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_R66Q exm20111 1 16069612 [A/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_V87M exm20115 1 16069648 [T/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_F99L exm20118 1 16069664 [T/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_V104A exm20122 1 16070707 [T/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_S130L exm1723158 1 16070754 [A/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_A146T exm20133 1 16070871 [T/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_R185C exm20137 1 16070922 [T/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Nonsense_Q202X exm20142 1 16071010 [T/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_S231L exm20143 1 16071015 [A/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_A233T exm20144 1 16071022 [A/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_R235Q exm20149 1 16071058 [T/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_L247R exm1723205 1 16073432 [A/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_F276L exm20166 1 16073524 [A/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_T307N rs12725198 1 16080171 [A/G] rs867321 1 16087164 [T/C] NM_001350151,NM_017556,NM_001024216 FBLIM1,FBLIM1,FBLIM1 Silent,Silent,Silent rs938295 1 16087260 [T/C] NM_001350151,NM_017556,NM_001024216 FBLIM1,FBLIM1,FBLIM1 Silent,Silent,Silent rs12083988 1 16089356 [A/G] NM_001350151,NM_017556,NM_001024216 FBLIM1,FBLIM1,FBLIM1 Silent,Silent,Silent exm20181 1 16091591 [A/G] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q exm20182 1 16091593 [T/C] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_R39C,Missense_R39C,Missense_R39C,Missense_R39C exm20199 1 16093939 [A/C] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_P107T,Missense_P107T,Silent,Missense_P107T exm20200 1 16093946 [T/C] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_P109L,Missense_P109L,Silent,Missense_P109L exm20212 1 16095093 [T/C] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_P170L,Missense_P170L,Silent,Missense_P170L exm20214 1 16095104 [A/G] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_V174I,Missense_V174I,Silent,Missense_V174I exm20219 1 16096939 [T/C] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Nonsense_R193X,Nonsense_R193X,Nonsense_R96X,Nonsense_R193X exm20220 1 16096951 [A/G] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_V197M,Missense_V197M,Missense_V100M,Missense_V197M rs10803398 1 16097237 [A/G] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 Silent,Silent,Silent,Silent exm20233 1 16101152 [T/C] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_R251W,Missense_R251W,Missense_R154W,Missense_R251W exm20241 1 16101228 [T/C] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_I276T,Missense_I276T,Missense_I179T,Missense_I276T exm2273616 1 16101302 [G/C] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Silent,Silent,Silent,Missense_G301R exm20247 1 16101323 [T/G] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Silent,Silent,Silent,Missense_A308S exm20248 1 16101332 [A/G] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Silent,Silent,Silent,Missense_G311R rs11576404 1 16110815 [A/G] NM_001350151,NM_017556,NM_001024216 FBLIM1,FBLIM1,FBLIM1 Silent,Silent,Silent rs12026094 1 16122018 [T/C] rs12569079 1 16124438 [A/G] rs2013019 1 16129320 [T/C] exm20280 1 16134072 [T/C] NM_001089591 UQCRHL EXON Missense_E25K rs6677321 1 16149301 [A/C] rs4661661 1 16161836 [T/C] NR_024279 FLJ37453 EXON Silent rs6701290 1 16188681 [A/G] NM_015001 SPEN Silent exm20290 1 16199526 [A/G] NM_015001 SPEN EXON Missense_R100H exm2250090 1 16199620 [A/G] NM_015001 SPEN EXON Synonymous_R131R exm20292 1 16199620 [A/G] NM_015001 SPEN EXON Synonymous_R131R indel.1065 1 16200633 [D/I] NM_015001 SPEN rs16852052 1 16201502 [T/G] NM_015001 SPEN Silent exm20299 1 16202843 [A/G] NM_015001 SPEN EXON Missense_Y184C exm20300 1 16202845 [A/G] NM_015001 SPEN EXON Missense_A185T exm20324 1 16235842 [A/G] NM_015001 SPEN EXON Missense_D303G exm2250099 1 16245979 [A/T] NM_015001 SPEN EXON Synonymous_T534T exm20341 1 16247386 [A/G] NM_015001 SPEN EXON Missense_G553S variant.1066 1 16248849 [A/G] NM_015001 SPEN Silent exm20350 1 16254702 [A/G] NM_015001 SPEN EXON Missense_E656G exm20352 1 16254852 [A/G] NM_015001 SPEN EXON Missense_R706H exm20354 1 16254932 [T/C] NM_015001 SPEN EXON Missense_R733C exm20355 1 16255007 [T/C] NM_015001 SPEN EXON Nonsense_R758X exm20361 1 16255086 [A/G] NM_015001 SPEN EXON Missense_R784H exm20363 1 16255157 [T/G] NM_015001 SPEN EXON Missense_L808V exm20367 1 16255205 [T/C] NM_015001 SPEN EXON Missense_R824C exm20377 1 16255500 [T/C] NM_015001 SPEN EXON Missense_T922M exm1725843 1 16255562 [A/G] NM_015001 SPEN EXON Missense_K943E exm20381 1 16255644 [T/C] NM_015001 SPEN EXON Missense_A970V exm20383 1 16255754 [A/C] NM_015001 SPEN EXON Missense_P1007T exm20387 1 16255799 [A/G] NM_015001 SPEN EXON Missense_V1022M exm20395 1 16256162 [T/C] NM_015001 SPEN EXON Missense_R1143C exm20399 1 16256300 [T/C] NM_015001 SPEN EXON Missense_S1189P exm20401 1 16256357 [A/G] NM_015001 SPEN EXON Missense_V1208I exm20404 1 16256519 [T/C] NM_015001 SPEN EXON Missense_P1262S exm20406 1 16256547 [A/C] NM_015001 SPEN EXON Missense_E1271A exm20408 1 16256621 [C/G] NM_015001 SPEN EXON Missense_P1296A exm20416 1 16256824 [T/G] NM_015001 SPEN EXON Missense_D1363E exm20424 1 16257159 [A/G] NM_015001 SPEN EXON Missense_R1475Q exm20427 1 16257285 [T/A] NM_015001 SPEN EXON Missense_E1517V exm2231684 1 16257398 [T/C] NM_015001 SPEN EXON Missense_F1555L exm20439 1 16257645 [T/C] NM_015001 SPEN EXON Missense_V1637A exm20442 1 16257671 [A/T] NM_015001 SPEN EXON Missense_T1646S exm20448 1 16257918 [T/C] NM_015001 SPEN EXON Missense_P1728L exm2250101 1 16257979 [T/C] NM_015001 SPEN EXON Synonymous_N1748N exm20458 1 16258070 [A/G] NM_015001 SPEN EXON Missense_A1779T exm20460 1 16258118 [T/C] NM_015001 SPEN EXON Missense_P1795S exm20480 1 16258493 [A/G] NM_015001 SPEN EXON Missense_V1920I exm20486 1 16258610 [G/C] NM_015001 SPEN EXON Missense_R1959G exm20495 1 16258756 [A/T] NM_015001 SPEN EXON Missense_D2007E exm20496 1 16258799 [A/G] NM_015001 SPEN EXON Missense_G2022S exm20498 1 16258802 [A/G] NM_015001 SPEN EXON Missense_V2023M exm20508 1 16259127 [A/G] NM_015001 SPEN EXON Missense_D2131G exm20517 1 16259202 [C/G] NM_015001 SPEN EXON Missense_S2156C exm20518 1 16259205 [T/G] NM_015001 SPEN EXON Missense_G2157V exm20533 1 16259444 [C/G] NM_015001 SPEN EXON Missense_P2237A exm1725947 1 16259454 [T/C] NM_015001 SPEN EXON Missense_P2240L 1KG_1_16259647 1 16259647 [D/I] NM_015001 SPEN EXON exm20548 1 16259813 [A/G] NM_015001 SPEN EXON Missense_N2360D exm20561 1 16260012 [T/C] NM_015001 SPEN EXON Missense_S2426F exm20567 1 16260140 [A/G] NM_015001 SPEN EXON Missense_I2469V exm20571 1 16260264 [T/C] NM_015001 SPEN EXON Missense_A2510V exm20576 1 16260392 [A/G] NM_015001 SPEN EXON Missense_S2553G exm20580 1 16260513 [A/G] NM_015001 SPEN EXON Missense_N2593S exm20583 1 16260579 [T/C] NM_015001 SPEN EXON Missense_A2615V exm20585 1 16260606 [A/G] NM_015001 SPEN EXON Missense_R2624Q exm20586 1 16260692 [A/G] NM_015001 SPEN EXON Missense_A2653T exm20589 1 16260803 [A/G] NM_015001 SPEN EXON Missense_V2690M exm20591 1 16260845 [A/G] NM_015001 SPEN EXON Missense_V2704M exm20598 1 16260963 [T/C] NM_015001 SPEN EXON Missense_A2743V exm20600 1 16260996 [T/C] NM_015001 SPEN EXON Missense_T2754M exm20602 1 16261019 [A/C] NM_015001 SPEN EXON Missense_M2762L exm20613 1 16261256 [A/G] NM_015001 SPEN EXON Missense_S2841G exm20623 1 16261604 [A/G] NM_015001 SPEN EXON Missense_N2957D exm20628 1 16261683 [T/C] NM_015001 SPEN EXON Missense_T2983M exm20630 1 16261685 [T/C] NM_015001 SPEN EXON Missense_P2984S exm20642 1 16262012 [G/C] NM_015001 SPEN EXON Missense_L3093V exm20651 1 16262141 [T/C] NM_015001 SPEN EXON Missense_R3136C exm20656 1 16262306 [A/G] NM_015001 SPEN EXON Missense_V3191M exm20684 1 16262715 [T/C] NM_015001 SPEN EXON Missense_A3327V exm20720 1 16264022 [C/G] NM_015001 SPEN EXON Missense_G3464A exm20722 1 16264027 [A/G] NM_015001 SPEN EXON Missense_S3466G exm20730 1 16264391 [A/G] NM_015001 SPEN EXON Missense_V3532I exm20731 1 16264403 [T/C] NM_015001 SPEN EXON Missense_R3536W exm20768 1 16269040 [C/G] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Synonymous_A592A,Synonymous_A598A,Synonymous_A598A,Synonymous_A611A,Synonymous_A674A,Synonymous_A674A exm2250105 1 16269040 [C/G] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Synonymous_A592A,Synonymous_A598A,Synonymous_A598A,Synonymous_A611A,Synonymous_A674A,Synonymous_A674A exm20791 1 16270841 [A/G] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_T360M,Missense_T366M,Missense_T366M,Missense_T379M,Missense_T442M,Missense_T442M exm20812 1 16271656 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_K153E,Missense_K159E,Missense_K159E,Missense_K172E,Missense_K235E,Missense_K235E exm20832 1 16272678 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_R87H,Missense_R93H,Missense_R93H,Missense_R106H,Missense_R169H,Missense_R169H exm1726152 1 16272694 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_D82N,Missense_D88N,Missense_D88N,Missense_D101N,Missense_D164N,Missense_D164N exm20841 1 16273507 [A/G] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_R17W,Missense_T30M,Missense_T30M,Silent,Missense_T106M,Missense_T106M exm20843 1 16273559 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Silent,Missense_V13M,Missense_V13M,Silent,Missense_V89M,Missense_V89M rs848189 1 16277647 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent exm-rs10927875 1 16299312 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent rs10927875 1 16299312 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent rs1739828 1 16327422 [T/C] exm20862 1 16330879 [T/C] NM_178840 SRARP EXON Synonymous_S27S exm20870 1 16332543 [A/G] NM_178840 SRARP EXON Missense_R71Q exm20872 1 16332563 [A/G] NM_178840 SRARP EXON Missense_M78V exm20882 1 16332740 [A/G] NM_178840 SRARP EXON Missense_G137R exm1726558 1 16332749 [A/G] NM_178840 SRARP EXON Missense_V140M exm2231699 1 16332783 [T/G] NM_178840 SRARP EXON Missense_G151V rs11578845 1 16336654 [A/G] rs1048245 1 16341354 [T/G] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm20891 1 16342103 [T/G] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Missense_Q157P,Missense_Q166P,Missense_Q237P,Missense_Q167P,Missense_Q156P,Missense_Q161P,Missense_Q162P,Missense_Q148P exm20893 1 16342124 [A/G] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Missense_P150L,Missense_P159L,Missense_P230L,Missense_P160L,Missense_P149L,Missense_P154L,Missense_P155L,Missense_P141L exm2231700 1 16342146 [T/C] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Missense_T143A,Missense_T152A,Missense_T223A,Missense_T153A,Missense_T142A,Missense_T147A,Missense_T148A,Missense_T134A exm20901 1 16342220 [A/G] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Missense_A118V,Missense_A127V,Missense_A198V,Missense_A128V,Missense_A117V,Missense_A122V,Missense_A123V,Silent exm20908 1 16343694 [T/C] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Missense_G70S,Missense_G74S,Missense_G145S,Missense_G75S,Silent,Missense_G74S,Missense_G70S,Missense_G70S exm20909 1 16343699 [G/C] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Missense_R68P,Missense_R72P,Missense_R143P,Missense_R73P,Silent,Missense_R72P,Missense_R68P,Missense_R68P exm20912 1 16344307 [T/C] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Missense_D51G,Missense_D51G,Missense_D126G,Missense_D51G,Missense_D51G,Missense_D51G,Missense_D51G,Missense_D51G exm20913 1 16344308 [T/C] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Missense_D51N,Missense_D51N,Missense_D126N,Missense_D51N,Missense_D51N,Missense_D51N,Missense_D51N,Missense_D51N exm2264805 1 16344664 [A/G] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3754322 1 16346507 [A/C] rs945425 1 16348412 [T/C] exm20944 1 16349137 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_R8H,Missense_R8H,Missense_R8H exm20955 1 16350315 [A/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_Q41K,Missense_Q41K,Missense_Q41K exm20956 1 16350328 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_R45H,Missense_R45H,Missense_R45H rs1010069 1 16352937 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA Silent,Silent,Silent exm2250114 1 16353926 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Synonymous_E259E,Synonymous_E259E,Synonymous_E216E exm20991 1 16354556 [T/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Nonsense_R304X,Nonsense_R304X,Nonsense_R261X exm20993 1 16354581 [T/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_T312I,Missense_T312I,Missense_T269I exm2250115 1 16355310 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Synonymous_P341P,Synonymous_P341P,Synonymous_P298P exm21029 1 16356501 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_A447T,Missense_A447T,Missense_A404T exm21030 1 16356522 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_T454A,Missense_T454A,Missense_T411A exm21081 1 16359717 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_R661Q,Missense_R660Q,Missense_R618Q rs9442193 1 16367339 [A/G] rs10803410 1 16368324 [A/G] rs2007471 1 16368977 [T/C] exm21108 1 16372124 [T/G] NM_000085 CLCNKB EXON Missense_V58L exm21109 1 16372179 [A/G] NM_000085 CLCNKB EXON Missense_R76Q exm1726897 1 16373080 [A/C] NM_000085 CLCNKB EXON Missense_L94I rs5257 1 16373124 [A/G] NM_000085 CLCNKB EXON Synonymous_S108S exm21136 1 16375510 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Silent,Missense_G15E exm21137 1 16375606 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Silent,Missense_S47L exm21152 1 16376312 [T/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_G290V,Missense_G121V exm21155 1 16376332 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_S297G,Missense_S128G variant.1094 1 16376353 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Nonsense_R304X,Nonsense_R135X var_1_16376412 1 16376412 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB Silent,Silent exm21163 1 16377042 [G/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_V334L,Missense_V165L rs5252 1 16378215 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Synonymous_I436I,Synonymous_I267I exm21193 1 16378220 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_R438H,Missense_R269H exm21194 1 16378223 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_L439P,Missense_L270P exm21206 1 16378747 [A/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_A488D,Missense_A319D exm21233 1 16380196 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_M562T,Missense_M393T exm21238 1 16380243 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_K578E,Missense_K409E exm21243 1 16382003 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Nonsense_W610X,Nonsense_W441X exm21247 1 16382201 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_C626Y,Missense_C456Y exm21253 1 16382916 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB Silent,Silent exm21257 1 16382951 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_S655F,Missense_S485F exm21260 1 16382966 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_S660L,Missense_S490L exm21309 1 16386391 [T/C] NM_182623 FAM131C EXON Missense_E142K exm21319 1 16388605 [A/G] NM_182623 FAM131C EXON Missense_S86L exm21338 1 16390081 [A/G] NM_182623 FAM131C EXON Missense_P25S rs9442235 1 16393357 [T/G] NM_182623 FAM131C Silent exm-rs9442235 1 16393357 [T/G] NM_182623 FAM131C Silent rs10927902 1 16395147 [A/G] NM_182623 FAM131C Silent rs4661351 1 16414088 [A/G] rs28757713 1 16422010 [A/G] rs11260711 1 16449746 [T/C] exm2250132 1 16451722 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Synonymous_G973G,Synonymous_G919G exm21342 1 16451722 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Synonymous_G973G,Synonymous_G919G exm21343 1 16451737 [G/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_Q968H,Missense_Q914H exm21345 1 16451766 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_A959T,Missense_A905T exm2250133 1 16451767 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Synonymous_I958I,Synonymous_I904I rs3754334 1 16451767 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Synonymous_I958I,Synonymous_I904I exm21347 1 16451804 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R946K,Missense_R892K exm21348 1 16451815 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Synonymous_D942D,Synonymous_D888D rs3820610 1 16452998 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 Silent,Silent exm21356 1 16456083 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_V891M,Missense_V837M exm21357 1 16456721 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R890H,Missense_R836H exm21359 1 16456763 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R876H,Missense_R822H exm21360 1 16456811 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R860H,Missense_R806H exm2250135 1 16458317 [T/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Synonymous_R792R,Synonymous_R738R exm21375 1 16458645 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_V747I,Missense_V693I exm21377 1 16458722 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R721Q,Missense_R667Q exm21393 1 16459744 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_G662S,Missense_G608S exm2259836 1 16460541 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 Silent,Silent exm21413 1 16460963 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R561K,Missense_R507K exm21417 1 16461024 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_V541M,Missense_V487M exm2231711 1 16461546 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_E523K,Missense_E469K exm2231712 1 16461581 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_T511M,Missense_T457M exm21424 1 16461627 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_D496N,Missense_D442N exm21445 1 16464377 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R428H,Missense_R374H exm21451 1 16464489 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_G391R,Missense_G337R exm21457 1 16464527 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_P378L,Missense_P324L exm21460 1 16464588 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_E358K,Missense_E304K exm21462 1 16464612 [T/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_P350T,Missense_P296T exm2273617 1 16464614 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_T349M,Missense_T295M exm21467 1 16464805 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R315Q,Missense_R261Q variant.1119 1 16464914 [A/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Nonsense_G279X,Nonsense_G225X exm21472 1 16464919 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_S277L,Missense_S223L rs6603867 1 16474701 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 Silent,Silent exm21483 1 16475001 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_D232G,Missense_D178G exm21485 1 16475047 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_G217S,Missense_G163S exm21492 1 16475173 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R175C,Missense_R121C exm21496 1 16475203 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_V165M,Missense_V111M exm21506 1 16475419 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R93C,Missense_R39C newrs143590250 1 16475434 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Nonsense_R88X,Nonsense_R34X exm21514 1 16477423 [C/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_L41V,Silent rs16852532 1 16484982 [T/G] rs904106 1 16486793 [A/G] rs924206 1 16495998 [A/G] rs1497406 1 16505320 [A/G] rs4661359 1 16513153 [T/C] rs11260930 1 16514343 [A/G] rs6656611 1 16515805 [T/C] rs221031 1 16524869 [T/C] NM_153213 ARHGEF19 EXON Silent rs221032 1 16525549 [T/C] NM_153213 ARHGEF19 Silent exm21527 1 16525657 [A/G] NM_153213 ARHGEF19 EXON Missense_W747R rs221035 1 16526529 [A/G] NM_153213 ARHGEF19 Silent indel.1127 1 16528342 [D/I] NM_153213 ARHGEF19 EXON exm1729071 1 16529016 [T/C] NM_153213 ARHGEF19 EXON Missense_R654Q exm21541 1 16531263 [T/C] NM_153213 ARHGEF19 EXON Missense_R633Q exm21543 1 16531299 [T/C] NM_153213 ARHGEF19 EXON Missense_Y621C exm21560 1 16532434 [A/C] NM_153213 ARHGEF19 EXON Missense_Q481H exm21562 1 16532457 [T/C] NM_153213 ARHGEF19 EXON Missense_A474T exm21565 1 16532498 [A/G] NM_153213 ARHGEF19 EXON Missense_P460L exm21571 1 16532549 [T/A] NM_153213 ARHGEF19 EXON Missense_E443V exm21591 1 16534047 [T/C] NM_153213 ARHGEF19 EXON Missense_E282K exm21594 1 16534074 [T/G] NM_153213 ARHGEF19 EXON Missense_P273T exm21596 1 16534255 [C/G] NM_153213 ARHGEF19 EXON Missense_E238Q exm21601 1 16534523 [A/G] NM_153213 ARHGEF19 EXON Missense_R204W exm21605 1 16534646 [G/C] NM_153213 ARHGEF19 EXON Missense_G163R exm21612 1 16535162 [A/G] NM_153213 ARHGEF19 EXON Missense_H130Y exm21614 1 16535174 [A/G] NM_153213 ARHGEF19 EXON Missense_R126C exm21620 1 16535288 [T/C] NM_153213 ARHGEF19 EXON Missense_E88K exm21625 1 16535435 [T/C] NM_153213 ARHGEF19 EXON Missense_A39T exm2273618 1 16535435 [A/C] NM_153213 ARHGEF19 EXON Missense_A39S exm21633 1 16535497 [T/C] NM_153213 ARHGEF19 EXON Missense_G18D exm21642 1 16558641 [T/C] NM_030907 CPLANE2 EXON Missense_V227I exm21645 1 16558697 [A/G] NM_030907 CPLANE2 EXON Missense_P208L exm21649 1 16558748 [A/G] NM_030907 CPLANE2 EXON Missense_T191I exm21658 1 16559044 [A/C] NM_030907 CPLANE2 EXON Missense_G163V exm21659 1 16559053 [T/C] NM_030907 CPLANE2 EXON Missense_R160H exm21675 1 16560108 [A/G] NM_030907 CPLANE2 EXON Synonymous_T88T variant.1143 1 16560174 [T/C] NM_030907 CPLANE2 EXON Synonymous_V66V exm21682 1 16560248 [A/G] NM_030907 CPLANE2 EXON Missense_R42W rs2863845 1 16561179 [T/C] NM_030907 CPLANE2 Silent exm21687 1 16563190 [T/G] NM_030907 CPLANE2 EXON Missense_H16Q rs3738632 1 16574316 [T/C] NM_018994 FBXO42 EXON Silent exm21694 1 16577377 [T/C] NM_018994 FBXO42 EXON Missense_V648M exm21695 1 16577403 [A/G] NM_018994 FBXO42 EXON Missense_M639T exm21703 1 16577595 [A/G] NM_018994 FBXO42 EXON Missense_A575V exm21709 1 16577794 [T/C] NM_018994 FBXO42 EXON Missense_A509T exm21713 1 16577908 [G/C] NM_018994 FBXO42 EXON Missense_P471A exm21720 1 16578016 [T/C] NM_018994 FBXO42 EXON Missense_G435S rs1008529 1 16582686 [A/G] NM_018994 FBXO42 Silent rs6698317 1 16591072 [A/G] NM_018994 FBXO42 Silent rs2983160 1 16621432 [A/G] NM_018994 FBXO42 Silent variant.1145 1 16632373 [A/G] NM_018994 FBXO42 EXON Nonsense_Q98X rs2273311 1 16641899 [T/C] NM_018994 FBXO42 EXON Synonymous_S5S rs11804252 1 16642849 [T/C] NM_018994 FBXO42 Silent rs4661736 1 16645277 [T/C] NM_018994 FBXO42 Silent rs11260727 1 16653299 [T/C] NM_018994 FBXO42 Silent rs6702819 1 16659438 [T/C] NM_018994 FBXO42 Silent rs7544175 1 16705544 [T/C] NR_073502,NR_073503,NM_001271869,NM_001114600,NR_073500,NR_073501 SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SZRD1 Silent,Silent,Silent,Silent,Silent,Silent exm21788 1 16725270 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_R444Q,Missense_R467Q exm21789 1 16725271 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Nonsense_R444X,Nonsense_R467X exm21801 1 16727294 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Synonymous_N342N,Synonymous_N365N exm21804 1 16727329 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_V331I,Missense_V354I exm21806 1 16727361 [A/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_G320V,Missense_G343V exm21807 1 16727364 [T/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_E319A,Missense_E342A exm21808 1 16727387 [C/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_N311K,Missense_N334K exm21810 1 16730308 [T/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_H282Q,Missense_H305Q exm21823 1 16731492 [C/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_E238Q,Missense_E261Q exm21826 1 16731510 [G/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_V232L,Missense_V255L exm21827 1 16731518 [A/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_G229V,Missense_G252V exm21828 1 16731572 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_N211S,Missense_N234S rs907796 1 16732860 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 Silent,Silent,Silent exm21836 1 16735613 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_A202T,Missense_A225T exm1732164 1 16736096 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_R173Q,Missense_R196Q exm21839 1 16736097 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_R173W,Missense_R196W exm21841 1 16736132 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_Q161R,Missense_Q184R exm21843 1 16736138 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_L159S,Missense_L182S exm2250195 1 16736272 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Synonymous_S114S,Synonymous_S137S exm21864 1 16736451 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_L55F,Missense_L78F exm21868 1 16736484 [C/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_Q44E,Missense_Q67E exm21870 1 16736526 [T/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_I30L,Missense_I53L exm21872 1 16736538 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_E26K,Missense_E49K rs4661747 1 16739953 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 Silent,Silent,Silent exm21891 1 16767269 [G/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_G5R,Missense_G5R,Missense_G5R exm21897 1 16770143 [G/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_L37V,Missense_L37V,Missense_L11V rs821000 1 16773880 [A/G] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 Silent,Silent,Silent exm21901 1 16774403 [A/G] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_G78S,Missense_G78S,Missense_G52S exm21903 1 16774425 [T/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_T85M,Missense_T85M,Missense_T59M variant.1158 1 16774590 [T/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Nonsense_R112X,Nonsense_R112X,Nonsense_R86X exm21911 1 16775632 [G/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_P142R,Missense_P142R,Missense_P116R rs279779 1 16776804 [T/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 Silent,Silent,Silent variant.1159 1 16778369 [T/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Nonsense_R176X,Nonsense_R176X,Nonsense_R150X exm21918 1 16778370 [A/G] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_R176Q,Missense_R176Q,Missense_R150Q exm21919 1 16778393 [A/G] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_G184R,Missense_G184R,Missense_G158R exm21928 1 16782322 [T/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Silent,Missense_P226L,Missense_P200L exm21936 1 16785394 [T/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_T242M,Silent,Silent rs7537985 1 16831863 [T/C] rs277462 1 16847832 [T/C] exm21949 1 16890470 [A/C] NM_017940 NBPF1 EXON Missense_W1131C exm21951 1 16890475 [T/C] NM_017940 NBPF1 EXON Missense_T1130A rs2985125 1 17004186 [A/G] rs1977269 1 17004850 [A/C] kgp11244105 1 17006479 [A/C] kgp6780284 1 17112979 [T/C] rs6586501 1 17202355 [A/G] rs10047218 1 17228131 [A/G] exm22337 1 17248532 [A/G] NM_014675 CROCC EXON Missense_R7G exm22341 1 17249161 [A/C] NM_014675 CROCC EXON Missense_L22M exm1735511 1 17249170 [A/G] NM_014675 CROCC EXON Missense_S25G exm22343 1 17249173 [A/G] NM_014675 CROCC EXON Missense_V26I exm22345 1 17249200 [A/G] NM_014675 CROCC EXON Missense_A35T exm22347 1 17249203 [T/C] NM_014675 CROCC EXON Missense_R36W exm22349 1 17249219 [A/G] NM_014675 CROCC EXON Missense_D41G exm22360 1 17250898 [A/G] NM_014675 CROCC EXON Missense_R92H exm22366 1 17250945 [A/G] NM_014675 CROCC EXON Missense_A108T exm22411 1 17257012 [T/C] NM_014675 CROCC EXON Nonsense_R258X exm22424 1 17257819 [T/C] NM_014675 CROCC EXON Missense_R295C exm22425 1 17257820 [T/G] NM_014675 CROCC EXON Missense_R295L exm22427 1 17257829 [T/C] NM_014675 CROCC EXON Missense_L298P exm22429 1 17257840 [G/C] NM_014675 CROCC EXON Missense_Q302E exm22473 1 17265413 [T/C] NM_014675 CROCC EXON Missense_S462P exm22474 1 17265416 [T/G] NM_014675 CROCC EXON Missense_D463Y exm22500 1 17266464 [G/C] NM_014675 CROCC EXON Missense_E562Q exm22511 1 17270614 [T/C] NM_014675 CROCC EXON Missense_H610Y exm22555 1 17273287 [A/G] NM_014675 CROCC EXON Missense_R772Q exm22563 1 17273371 [T/C] NM_014675 CROCC EXON Missense_A800V exm22640 1 17281235 [A/G] NM_014675 CROCC EXON Missense_V1110M exm22644 1 17281268 [T/C] NM_014675 CROCC EXON Missense_R1121W exm22646 1 17281278 [A/G] NM_014675 CROCC EXON Missense_R1124Q exm22651 1 17281359 [T/C] NM_014675 CROCC EXON Missense_S1151F exm22700 1 17292223 [A/G] NM_014675 CROCC EXON Missense_G1471R exm22758 1 17296315 [C/G] NM_014675 CROCC EXON Missense_E1779D exm22759 1 17296320 [A/G] NM_014675 CROCC EXON Missense_R1781Q exm22762 1 17296392 [A/G] NM_014675 CROCC EXON Missense_R1805Q exm22765 1 17296406 [A/G] NM_014675 CROCC EXON Missense_G1810S exm1735823 1 17296425 [A/G] NM_014675 CROCC EXON Missense_R1816Q exm22766 1 17296755 [A/G] NM_014675 CROCC EXON Missense_R1820Q exm22770 1 17296793 [A/G] NM_014675 CROCC EXON Missense_V1833I exm22772 1 17296818 [A/G] NM_014675 CROCC EXON Missense_R1841Q exm22773 1 17296833 [A/G] NM_014675 CROCC EXON Missense_R1846H exm22776 1 17296853 [A/G] NM_014675 CROCC EXON Missense_A1853T exm22779 1 17296893 [A/G] NM_014675 CROCC EXON Missense_R1866H exm22782 1 17297132 [T/C] NM_014675 CROCC EXON Missense_V1885A exm22788 1 17297200 [T/C] NM_014675 CROCC EXON Missense_R1908C exm22794 1 17297252 [A/C] NM_014675 CROCC EXON Missense_Q1925P rs761422 1 17301780 [A/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Synonymous_H144H,Synonymous_H144H,Synonymous_H143H,Synonymous_H143H exm22814 1 17301821 [T/C] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_V131I,Missense_V131I,Missense_V130I,Missense_V130I exm22816 1 17301832 [T/C] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_R127H,Missense_R127H,Missense_R126H,Missense_R126H variant.1182 1 17303387 [A/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 Silent,Silent,Silent,Silent exm22832 1 17303609 [T/C] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_Q41R,Missense_Q41R,Missense_Q40R,Missense_Q40R exm22833 1 17303630 [T/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_Q34P,Missense_Q34P,Missense_Q33P,Missense_Q33P exm2273620 1 17303651 [A/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_P27L,Missense_P27L,Missense_P26L,Missense_P26L exm22835 1 17303652 [A/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_P27S,Missense_P27S,Missense_P26S,Missense_P26S rs9435730 1 17305903 [A/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 Silent,Silent,Silent,Silent exm-rs2284746 1 17306675 [C/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 Silent,Silent,Silent,Silent rs9435734 1 17311190 [A/G] exm22841 1 17312485 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Silent,Missense_V1158M,Silent exm22845 1 17312586 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Silent,Missense_P1124L,Silent exm22847 1 17312596 [T/A] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Silent,Missense_T1121S,Silent exm22854 1 17312743 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Synonymous_P1167P,Missense_A1072T,Synonymous_P1172P exm22856 1 17312787 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R1153C,Missense_A1057V,Missense_R1158C exm22858 1 17312829 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A1139T,Missense_R1043H,Missense_A1144T exm22865 1 17313049 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_P1100L,Silent,Missense_P1105L exm22892 1 17313682 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_T976M,Missense_T937M,Missense_T981M exm22897 1 17314633 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Synonymous_T948T,Synonymous_T909T,Synonymous_T953T exm22899 1 17314656 [A/T] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_I941F,Missense_I902F,Missense_I946F exm2231851 1 17314856 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_S903L,Missense_S864L,Missense_S908L exm22926 1 17316686 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R778Q,Missense_R778Q,Missense_R783Q exm22932 1 17316771 [C/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_Q750E,Missense_Q750E,Missense_Q755E rs2076604 1 17318065 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent exm22935 1 17318244 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A741T,Missense_A741T,Missense_A746T exm1736074 1 17318282 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_T728M,Missense_T728M,Missense_T733M exm22943 1 17318537 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_V693A,Missense_V693A,Missense_V698A exm22947 1 17318610 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A669T,Missense_A669T,Missense_A674T exm22959 1 17320122 [A/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent exm2231855 1 17322553 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R482Q,Missense_R482Q,Missense_R487Q exm22983 1 17322750 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R446Q,Missense_R446Q,Missense_R451Q exm22987 1 17322793 [G/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_L432V,Missense_L432V,Missense_L437V exm23009 1 17323602 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R365W,Missense_R365W,Missense_R370W exm23022 1 17326767 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R289Q,Missense_R289Q,Missense_R294Q exm23023 1 17326768 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R289W,Missense_R289W,Missense_R294W exm23031 1 17326989 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A244V,Missense_A244V,Missense_A249V exm23046 1 17331192 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Silent,Silent,Missense_G158R exm2250261 1 17331229 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Synonymous_T145T,Synonymous_T145T,Synonymous_T145T exm-rs3738814 1 17331676 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent exm23066 1 17332000 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_V53M,Missense_V53M,Missense_V53M exm23067 1 17332012 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_G49S,Missense_G49S,Missense_G49S exm23076 1 17332249 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_T12M,Missense_T12M,Missense_T12M rs2076600 1 17337391 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent rs2871775 1 17345905 [A/G] NM_003000 SDHB Silent exm2231860 1 17349159 [A/G] NM_003000 SDHB EXON Missense_P237S exm23089 1 17354297 [A/G] NM_003000 SDHB EXON Missense_S163P exm23090 1 17354329 [A/G] NM_003000 SDHB EXON Missense_S152F newrs150542357 1 17355095 [A/G] NM_003000 SDHB EXON Synonymous_P141P rs7550829 1 17357577 [T/C] NM_003000 SDHB Silent variant.1199 1 17359572 [T/C] NM_003000 SDHB EXON Missense_R90Q rs4920653 1 17366871 [T/C] NM_003000 SDHB Silent variant.1200 1 17371249 [T/C] NM_003000 SDHB Silent exm23100 1 17371278 [T/C] NM_003000 SDHB EXON Missense_T60A exm23101 1 17371286 [T/C] NM_003000 SDHB EXON Missense_H57R exm23102 1 17371298 [T/C] NM_003000 SDHB EXON Missense_G53E exm23108 1 17380450 [G/C] NM_003000 SDHB EXON Missense_C22S exm2231866 1 17380471 [A/G] NM_003000 SDHB EXON Missense_A15V exm23111 1 17380483 [T/C] NM_003000 SDHB EXON Missense_R11H rs2647209 1 17382562 [T/C] rs4920442 1 17388770 [T/C] exm2273318 1 17395480 [A/G] NM_007365 PADI2 EXON Silent rs2076598 1 17395521 [A/G] NM_007365 PADI2 EXON Silent exm23124 1 17395640 [T/C] NM_007365 PADI2 EXON Missense_D633N exm23125 1 17395655 [T/C] NM_007365 PADI2 EXON Missense_E628K indel.1206 1 17395659 [D/I] NM_007365 PADI2 EXON exm23129 1 17395682 [A/G] NM_007365 PADI2 EXON Missense_R619C exm23138 1 17395772 [A/C] NM_007365 PADI2 EXON Missense_V589L exm23140 1 17396608 [T/C] NM_007365 PADI2 EXON Missense_R580H exm23142 1 17396636 [T/C] NM_007365 PADI2 EXON Missense_A571T rs2076595 1 17396703 [T/C] NM_007365 PADI2 EXON Synonymous_L548L rs2016693 1 17397704 [A/C] NM_007365 PADI2 Silent exm23164 1 17402215 [T/C] NM_007365 PADI2 EXON Missense_V472M exm23169 1 17402307 [T/C] NM_007365 PADI2 EXON Missense_R441Q rs2057096 1 17405809 [A/G] NM_007365 PADI2 EXON Synonymous_N420N exm23175 1 17405814 [T/C] NM_007365 PADI2 EXON Missense_V419M rs2057094 1 17405949 [T/C] NM_007365 PADI2 Silent rs2076617 1 17409017 [A/G] NM_007365 PADI2 Silent exm23188 1 17410253 [A/G] NM_007365 PADI2 EXON Nonsense_Q340X exm23205 1 17413075 [T/C] NM_007365 PADI2 EXON Missense_D259N exm23211 1 17413152 [T/C] NM_007365 PADI2 EXON Missense_R233Q exm23213 1 17413176 [T/C] NM_007365 PADI2 EXON Missense_R225H exm23214 1 17413177 [A/G] NM_007365 PADI2 EXON Missense_R225C rs2076614 1 17413459 [A/G] NM_007365 PADI2 Silent rs2014725 1 17417253 [T/C] NM_007365 PADI2 Silent exm23223 1 17418963 [T/C] NM_007365 PADI2 EXON Missense_E199K exm23233 1 17420121 [T/C] NM_007365 PADI2 EXON Missense_R157Q exm23234 1 17420146 [T/C] NM_007365 PADI2 EXON Missense_A149T exm1736795 1 17422451 [T/C] NM_007365 PADI2 EXON Missense_V122M exm23247 1 17429541 [T/C] NM_007365 PADI2 EXON Missense_Y97C exm23253 1 17431434 [A/G] NM_007365 PADI2 EXON Missense_S72L rs1005753 1 17444769 [T/G] NM_007365 PADI2 Silent rs910223 1 17459855 [T/C] rs877648 1 17462261 [A/G] rs12408879 1 17468135 [T/G] rs12085482 1 17476831 [A/G] rs4620585 1 17486722 [T/C] rs2454163 1 17487951 [T/C] rs2977265 1 17503210 [A/G] rs2935923 1 17510703 [A/G] rs3003469 1 17521274 [A/G] NR_148993 LOC400743 Silent exm23269 1 17531750 [T/C] NM_013358 PADI1 EXON Missense_M13T exm23270 1 17531755 [A/G] NM_013358 PADI1 EXON Missense_T15A exm23273 1 17531782 [A/G] NM_013358 PADI1 EXON Missense_E24K exm23274 1 17531806 [T/G] NM_013358 PADI1 Silent rs4384275 1 17534310 [T/C] NM_013358 PADI1 Silent rs2977278 1 17538952 [T/C] NM_013358 PADI1 Silent rs2977283 1 17541949 [A/G] NM_013358 PADI1 Silent exm23280 1 17548859 [A/G] NM_013358 PADI1 EXON Missense_R56H exm1737436 1 17548865 [A/G] NM_013358 PADI1 EXON Missense_R58H exm23281 1 17548873 [A/G] NM_013358 PADI1 EXON Missense_E61K exm23283 1 17548892 [A/G] NM_013358 PADI1 EXON Missense_R67H exm23284 1 17548898 [T/C] NM_013358 PADI1 EXON Missense_P69L exm23287 1 17548940 [T/C] NM_013358 PADI1 EXON Missense_A83V exm23288 1 17548945 [A/G] NM_013358 PADI1 EXON Missense_K85E exm23294 1 17550167 [A/G] NM_013358 PADI1 EXON Missense_V109M exm23295 1 17550185 [A/G] NM_013358 PADI1 EXON Missense_V115I exm23296 1 17550187 [T/C] NM_013358 PADI1 EXON Synonymous_V115V exm23299 1 17550889 [A/G] NM_013358 PADI1 EXON Missense_R125H exm23301 1 17550898 [A/T] NM_013358 PADI1 EXON Missense_K128M exm23307 1 17552548 [A/G] NM_013358 PADI1 EXON Missense_M183V exm23310 1 17552573 [A/G] NM_013358 PADI1 EXON Missense_D191G variant.1222 1 17552653 [A/G] NM_013358 PADI1 EXON Missense_G218S rs12024174 1 17553091 [T/C] NM_013358 PADI1 Silent exm23318 1 17555185 [T/C] NM_013358 PADI1 EXON Nonsense_R240X exm23320 1 17555231 [T/C] NM_013358 PADI1 EXON Missense_T255I exm23331 1 17555490 [T/G] NM_013358 PADI1 EXON Missense_M291I exm23333 1 17555494 [T/C] NM_013358 PADI1 EXON Missense_P293S exm23336 1 17555507 [T/C] NM_013358 PADI1 EXON Missense_T297M indel.1226 1 17556659 [D/I] NM_013358 PADI1 EXON rs3003406 1 17557133 [A/C] NM_013358 PADI1 EXON Synonymous_R374R rs4268393 1 17559196 [T/C] NM_013358 PADI1 Silent exm23364 1 17559399 [T/C] NM_013358 PADI1 EXON Missense_P416L exm1737488 1 17559438 [A/G] NM_013358 PADI1 EXON Missense_R429Q rs11203339 1 17560972 [T/C] NM_013358 PADI1 Silent exm23382 1 17565117 [T/C] NM_013358 PADI1 EXON Missense_R489W exm1737507 1 17566200 [T/G] NM_013358 PADI1 EXON Synonymous_G518G exm23395 1 17567149 [A/G] NM_013358 PADI1 EXON Missense_R551H exm23399 1 17567256 [T/G] NM_013358 PADI1 Silent rs2977225 1 17573439 [T/C] exm23418 1 17575699 [A/G] NM_016233 PADI3 EXON Missense_V23M rs2977227 1 17576328 [T/C] NM_016233 PADI3 Silent rs2977228 1 17576499 [T/C] NM_016233 PADI3 Silent exm23424 1 17586122 [A/G] NM_016233 PADI3 EXON Missense_V48M exm23425 1 17586134 [A/G] NM_016233 PADI3 EXON Missense_I52V rs3750300 1 17586134 [A/G] NM_016233 PADI3 EXON Missense_I52V exm23427 1 17586159 [A/G] NM_016233 PADI3 EXON Missense_R60Q exm1737539 1 17586164 [T/C] NM_016233 PADI3 EXON Missense_R62C exm1737541 1 17586179 [T/C] NM_016233 PADI3 EXON Missense_R67W exm23436 1 17588646 [T/C] NM_016233 PADI3 EXON Missense_S98P exm23438 1 17588689 [T/A] NM_016233 PADI3 EXON Missense_L112H exm23442 1 17592187 [A/G] NM_016233 PADI3 EXON Missense_G127E exm23443 1 17593214 [A/C] NM_016233 PADI3 EXON Synonymous_R137R exm23444 1 17593215 [A/G] NM_016233 PADI3 EXON Missense_R137Q exm23446 1 17593232 [T/C] NM_016233 PADI3 EXON Missense_P143S exm23449 1 17593310 [T/C] NM_016233 PADI3 EXON Nonsense_Q169X exm23450 1 17593316 [A/G] NM_016233 PADI3 EXON Missense_V171M exm23453 1 17594365 [T/C] NM_016233 PADI3 EXON Missense_T187M exm23455 1 17594433 [T/C] NM_016233 PADI3 EXON Missense_R210W exm23458 1 17594456 [T/C] NM_016233 PADI3 EXON Synonymous_C217C exm1737592 1 17596797 [A/G] NM_016233 PADI3 EXON Missense_R241H exm23462 1 17596809 [A/G] NM_016233 PADI3 EXON Missense_D245G exm23463 1 17596817 [T/C] NM_016233 PADI3 EXON Missense_R248C exm23464 1 17596818 [A/G] NM_016233 PADI3 EXON Missense_R248H exm2250291 1 17597646 [T/C] NM_016233 PADI3 EXON Synonymous_A340A exm2250292 1 17597658 [T/C] NM_016233 PADI3 EXON Synonymous_N344N exm1737603 1 17599881 [T/C] NM_016233 PADI3 EXON Missense_P365L rs2977295 1 17600437 [A/C] NM_016233 PADI3 Silent rs2293917 1 17601083 [T/C] NM_016233 PADI3 Silent exm23503 1 17601154 [T/C] NM_016233 PADI3 EXON Missense_R394W exm23506 1 17601163 [T/C] NM_016233 PADI3 EXON Missense_R397C rs11585357 1 17601165 [T/C] NM_016233 PADI3 EXON Synonymous_R397R exm23511 1 17601263 [T/C] NM_016233 PADI3 EXON Missense_I430T exm23512 1 17601266 [A/G] NM_016233 PADI3 EXON Missense_G431E rs3003434 1 17602191 [A/G] NM_016233 PADI3 Silent exm23518 1 17603075 [T/C] NM_016233 PADI3 EXON Missense_P457S indel.1242 1 17606923 [D/I] NM_016233 PADI3 EXON newrs148561129 1 17606926 [T/C] NM_016233 PADI3 Silent var_1_17606929 1 17606929 [A/G] NM_016233 PADI3 Silent exm23537 1 17607199 [T/C] NM_016233 PADI3 EXON Missense_R557W exm23541 1 17607272 [T/C] NM_016233 PADI3 EXON Missense_T581M exm23542 1 17607274 [A/G] NM_016233 PADI3 EXON Missense_A582T newrs139540548 1 17607292 [A/G] NM_016233 PADI3 Silent exm23544 1 17607292 [A/G] NM_016233 PADI3 Silent exm23547 1 17609392 [A/C] NM_016233 PADI3 EXON Missense_P605T exm23548 1 17609422 [A/G] NM_016233 PADI3 EXON Missense_E615K exm23550 1 17609431 [T/C] NM_016233 PADI3 EXON Missense_R618W exm23556 1 17609491 [T/C] NM_016233 PADI3 EXON Missense_H638Y exm23558 1 17609549 [T/C] NM_016233 PADI3 EXON Missense_F657S exm23560 1 17609560 [A/C] NM_016233 PADI3 EXON Missense_N661H rs7548900 1 17622654 [A/C] rs2477142 1 17629004 [T/C] exm23564 1 17634718 [A/G] NM_012387 PADI4 EXON Missense_M1V exm23565 1 17634740 [A/G] NM_012387 PADI4 EXON Missense_R8H rs2477131 1 17636321 [A/G] NM_012387 PADI4 Silent rs10788664 1 17647475 [T/C] NM_012387 PADI4 Silent rs1748041 1 17655407 [T/C] NM_012387 PADI4 Silent exm23574 1 17657534 [A/G] NM_012387 PADI4 EXON Missense_G55S exm23576 1 17657592 [T/C] NM_012387 PADI4 EXON Missense_V74A exm23578 1 17657616 [T/C] NM_012387 PADI4 EXON Missense_V82A rs11203367 1 17657616 [T/C] NM_012387 PADI4 EXON Missense_V82A exm23581 1 17657636 [A/G] NM_012387 PADI4 EXON Missense_D89N exm23584 1 17660463 [A/G] NM_012387 PADI4 EXON Missense_K100R exm23585 1 17660468 [A/C] NM_012387 PADI4 EXON Missense_P102T exm23586 1 17660474 [A/G] NM_012387 PADI4 EXON Missense_V104I exm23587 1 17660490 [A/G] NM_012387 PADI4 EXON Missense_Y109C rs874881 1 17660499 [G/C] NM_012387 PADI4 EXON Missense_G112A exm23589 1 17660499 [G/C] NM_012387 PADI4 EXON Missense_G112A rs1748033 1 17662662 [T/C] NM_012387 PADI4 EXON Synonymous_L117L exm23601 1 17662705 [C/G] NM_012387 PADI4 EXON Missense_R131T exm23611 1 17664615 [T/C] NM_012387 PADI4 EXON Missense_M164T exm23612 1 17664616 [A/G] NM_012387 PADI4 EXON Missense_M164I exm23613 1 17664622 [T/C] NM_012387 PADI4 EXON Synonymous_C166C exm2250297 1 17664622 [T/C] NM_012387 PADI4 EXON Synonymous_C166C exm23616 1 17666198 [T/C] NM_012387 PADI4 EXON Missense_S181L exm23618 1 17666222 [A/C] NM_012387 PADI4 EXON Missense_T189N exm23620 1 17666263 [A/G] NM_012387 PADI4 EXON Missense_V203M exm23621 1 17666309 [A/G] NM_012387 PADI4 Silent exm23629 1 17668509 [A/G] NM_012387 PADI4 EXON Missense_G242S exm23635 1 17668563 [A/G] NM_012387 PADI4 EXON Missense_D260N exm23638 1 17668609 [T/C] NM_012387 PADI4 EXON Missense_S275F exm23644 1 17668827 [A/G] NM_012387 PADI4 EXON Missense_V289M exm23646 1 17668840 [T/C] NM_012387 PADI4 EXON Missense_V293A exm23651 1 17672566 [C/G] NM_012387 PADI4 EXON Missense_A327P rs2240339 1 17674108 [T/C] NM_012387 PADI4 Silent exm-rs2240335 1 17674537 [A/C] NM_012387 PADI4 EXON Synonymous_R383R exm23666 1 17681053 [A/G] NM_012387 PADI4 EXON Missense_R394Q exm23677 1 17681143 [T/C] NM_012387 PADI4 EXON Missense_P424L exm23680 1 17682519 [T/G] NM_012387 PADI4 EXON Missense_L451R exm23682 1 17682572 [A/G] NM_012387 PADI4 EXON Missense_V469M exm23686 1 17682906 [T/C] NM_012387 PADI4 EXON Nonsense_Q504X rs1635564 1 17683526 [T/G] NM_012387 PADI4 Silent indel.1256 1 17685328 [D/I] NM_012387 PADI4 exm23694 1 17685905 [T/C] NM_012387 PADI4 Silent rs1635561 1 17687027 [T/C] NM_012387 PADI4 Silent exm23700 1 17690083 [T/C] NM_012387 PADI4 EXON Missense_R609C exm23705 1 17690206 [A/C] NM_012387 PADI4 EXON Missense_R650S rs1204890 1 17694701 [T/G] rs12732819 1 17695153 [T/C] exm23709 1 17698750 [A/G] NM_207421 PADI6 EXON Missense_V4M exm23715 1 17698855 [A/G] NM_207421 PADI6 EXON Missense_G39R exm23721 1 17699676 [T/C] NM_207421 PADI6 EXON Missense_T81M exm23724 1 17699720 [A/G] NM_207421 PADI6 EXON Missense_A96T exm23726 1 17701961 [A/G] NM_207421 PADI6 EXON Missense_V112M exm23728 1 17706442 [A/G] NM_207421 PADI6 EXON Missense_R132H exm23733 1 17708460 [T/A] NM_207421 PADI6 Silent rs6696295 1 17714864 [T/C] NM_207421 PADI6 Silent exm23745 1 17714971 [A/G] NM_207421 PADI6 EXON Missense_V259I exm23747 1 17715015 [C/G] NM_207421 PADI6 EXON Missense_I273M rs2526842 1 17715081 [T/C] NM_207421 PADI6 Silent rs6695214 1 17719843 [T/C] NM_207421 PADI6 Silent exm23765 1 17720515 [A/G] NM_207421 PADI6 EXON Synonymous_T373T exm23766 1 17720542 [T/C] NM_207421 PADI6 EXON Synonymous_A382A exm23767 1 17720545 [T/C] NM_207421 PADI6 EXON Synonymous_A383A exm23775 1 17721447 [T/C] NM_207421 PADI6 EXON Synonymous_S446S exm23776 1 17721453 [C/G] NM_207421 PADI6 EXON Missense_E448D exm23785 1 17722110 [T/C] NM_207421 PADI6 EXON Synonymous_G523G exm23787 1 17722113 [T/C] NM_207421 PADI6 EXON Synonymous_D524D exm-rs7538876 1 17722363 [A/G] NM_207421 PADI6 Silent rs7538876 1 17722363 [A/G] NM_207421 PADI6 Silent exm23790 1 17723586 [T/C] NM_207421 PADI6 EXON Synonymous_I546I exm23791 1 17723587 [A/G] NM_207421 PADI6 EXON Missense_D547N exm23804 1 17727811 [C/G] NM_207421 PADI6 EXON Synonymous_L654L exm23807 1 17727838 [T/C] NM_207421 PADI6 EXON Synonymous_D663D exm23809 1 17727860 [A/G] NM_207421 PADI6 EXON Missense_V671I rs2526830 1 17728119 [A/G] NM_207421 PADI6 EXON Silent exm23845 1 17748785 [T/C] NM_018715,NM_001136204 RCC2,RCC2 EXON Missense_T220A,Missense_T220A rs6688886 1 17753639 [A/G] NM_018715,NM_001136204 RCC2,RCC2 Silent,Silent rs2800686 1 17763312 [A/G] NM_018715,NM_001136204 RCC2,RCC2 Silent,Silent exm23860 1 17764763 [A/G] NM_018715,NM_001136204 RCC2,RCC2 EXON Missense_V83A,Missense_V83A rs2883272 1 17773159 [A/G] rs2526822 1 17778571 [T/G] rs12078935 1 17791882 [T/C] rs4920609 1 17794205 [A/C] rs4284283 1 17796711 [A/G] rs6659366 1 17800419 [A/G] rs6689677 1 17820742 [A/C] rs11203414 1 17829956 [T/C] rs2254135 1 17834742 [T/C] rs2244444 1 17846922 [T/C] rs2477735 1 17869179 [T/C] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs4920374 1 17872028 [A/G] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent exm2268868 1 17874843 [T/C] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs2256398 1 17889690 [A/G] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs12049589 1 17899151 [T/C] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs6702679 1 17903298 [A/G] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs11203423 1 17907505 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent exm23884 1 17913964 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_L16P,Silent,Silent,Missense_L16P,Missense_L16P exm23891 1 17914057 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_S47N,Silent,Silent,Missense_S47N,Missense_S47N exm23899 1 17914110 [G/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_L65V,Silent,Silent,Missense_L65V,Missense_L65V exm23900 1 17914122 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_D69N,Silent,Silent,Missense_D69N,Missense_D69N rs12404333 1 17915833 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent rs4920379 1 17916382 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent rs10788679 1 17916962 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent rs12724758 1 17928259 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent exm23903 1 17928659 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_A99T,Silent,Silent,Missense_A99T,Missense_A99T exm23905 1 17928672 [C/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_G103A,Silent,Silent,Missense_G103A,Missense_G103A exm23907 1 17928680 [A/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_H106N,Silent,Silent,Missense_H106N,Missense_H106N exm23931 1 17934437 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_E192K,Silent,Silent,Missense_E192K,Missense_E192K exm2275427 1 17939626 [C/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_G228A,Silent,Silent,Silent,Silent exm23940 1 17942591 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_M243I,Silent,Silent,Missense_M204I,Missense_M204I exm23951 1 17948389 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_V325M,Silent,Silent,Missense_V286M,Missense_V286M,Missense_V103M,Missense_V103M exm23958 1 17949509 [T/A] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_M347L,Silent,Silent,Missense_M308L,Missense_M308L,Missense_M125L,Missense_M125L exm23959 1 17949537 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_A356V,Silent,Silent,Missense_A317V,Missense_A317V,Missense_A134V,Missense_A134V exm2250329 1 17949619 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Synonymous_R383R,Silent,Silent,Synonymous_R344R,Synonymous_R344R,Synonymous_R161R,Synonymous_R161R variant.1269 1 17949670 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Synonymous_S400S,Silent,Silent,Synonymous_S361S,Synonymous_S361S,Synonymous_S178S,Synonymous_S178S rs725021 1 17952531 [A/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Synonymous_I466I,Silent,Silent,Synonymous_I427I,Synonymous_I427I,Synonymous_I244I,Silent exm23987 1 17953972 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_V520I,Silent,Silent,Missense_V481I,Missense_V481I,Missense_V298I,Missense_V228I rs12562076 1 17958240 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent exm23998 1 17961392 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_T603M,Silent,Silent,Missense_T559M,Missense_T564M,Missense_T381M,Missense_T306M exm24001 1 17961432 [C/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_D616E,Silent,Silent,Missense_D572E,Missense_D577E,Missense_D394E,Missense_D319E rs16829867 1 17964474 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Synonymous_I673I,Silent,Silent,Synonymous_I629I,Synonymous_I634I,Synonymous_I451I,Synonymous_I376I exm24026 1 17975148 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_S791F,Silent,Silent,Missense_S747F,Missense_S752F,Missense_S569F,Missense_S494F rs6703771 1 17976560 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent exm24035 1 17982446 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_V852I,Silent,Silent,Missense_V808I,Missense_V813I,Missense_V630I,Missense_V555I exm24063 1 17991052 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_W991R,Silent,Silent,Missense_W947R,Missense_W952R,Missense_W769R,Missense_W694R rs6657353 1 18000627 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12742948 1 18006550 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2250331 1 18014076 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Synonymous_F1006F,Silent,Silent,Synonymous_F962F,Synonymous_F967F,Synonymous_F784F,Synonymous_F709F exm24075 1 18014153 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_S1032F,Silent,Silent,Missense_S988F,Missense_S993F,Missense_S810F,Missense_S735F exm24079 1 18014241 [A/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Synonymous_P1061P,Silent,Silent,Synonymous_P1017P,Synonymous_P1022P,Synonymous_P839P,Synonymous_P764P exm24081 1 18021668 [T/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_C1067F,Silent,Silent,Missense_C1023F,Missense_C1028F,Missense_C845F,Missense_C770F exm24085 1 18021758 [T/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_G1097V,Silent,Silent,Missense_G1053V,Missense_G1058V,Missense_G875V,Missense_G800V rs2270978 1 18023365 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Synonymous_N1110N,Silent,Silent,Synonymous_N1066N,Synonymous_N1071N,Synonymous_N888N,Synonymous_N813N exm24094 1 18023403 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_T1123I,Silent,Silent,Missense_T1079I,Missense_T1084I,Missense_T901I,Missense_T826I exm24104 1 18023556 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_Q1174R,Silent,Silent,Missense_Q1130R,Missense_Q1135R,Missense_Q952R,Missense_Q877R exm24105 1 18023562 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_R1176H,Silent,Silent,Missense_R1132H,Missense_R1137H,Missense_R954H,Missense_R879H exm24108 1 18023586 [A/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_P1184Q,Silent,Silent,Missense_P1140Q,Missense_P1145Q,Missense_P962Q,Missense_P887Q exm1739813 1 18023630 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_A1199T,Silent,Silent,Missense_A1155T,Missense_A1160T,Missense_A977T,Missense_A902T exm24116 1 18023654 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_D1207N,Silent,Silent,Missense_D1163N,Missense_D1168N,Missense_D985N,Missense_D910N exm24124 1 18023690 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_I1219V,Silent,Silent,Missense_I1175V,Missense_I1180V,Missense_I997V,Missense_I922V rs2270976 1 18023690 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_I1219V,Silent,Silent,Missense_I1175V,Missense_I1180V,Missense_I997V,Missense_I922V exm24126 1 18023699 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_R1222C,Silent,Silent,Missense_R1178C,Missense_R1183C,Missense_R1000C,Missense_R925C exm24128 1 18023717 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_R1228C,Silent,Silent,Missense_R1184C,Missense_R1189C,Missense_R1006C,Missense_R931C rs7522419 1 18033499 [A/G] rs7528432 1 18034588 [T/C] rs16830549 1 18034640 [A/G] exm2268655 1 18043943 [T/C] rs4920626 1 18046287 [T/G] rs7554330 1 18052713 [T/G] rs11584168 1 18060436 [T/C] rs2077398 1 18065643 [T/C] rs11203452 1 18074702 [A/G] rs4920381 1 18092615 [T/C] NM_030812 ACTL8 Silent rs1977251 1 18098553 [A/G] NM_030812 ACTL8 Silent rs10888060 1 18099283 [A/G] NM_030812 ACTL8 Silent exm-rs1847235 1 18123957 [A/G] NM_030812 ACTL8 Silent rs1847235 1 18123957 [A/G] NM_030812 ACTL8 Silent rs16830757 1 18124527 [T/C] NM_030812 ACTL8 Silent rs12034242 1 18126221 [T/C] NM_030812 ACTL8 Silent rs4920642 1 18128532 [T/C] NM_030812 ACTL8 Silent rs11806878 1 18135329 [A/G] NM_030812 ACTL8 Silent rs561698 1 18135882 [A/G] NM_030812 ACTL8 Silent rs533374 1 18136684 [A/G] NM_030812 ACTL8 Silent exm24137 1 18149510 [T/G] NM_030812 ACTL8 EXON Missense_A3S exm24147 1 18149613 [A/C] NM_030812 ACTL8 EXON Missense_P37Q exm24149 1 18149645 [T/C] NM_030812 ACTL8 EXON Missense_R48C exm24152 1 18149666 [A/G] NM_030812 ACTL8 EXON Missense_I55V exm24155 1 18149720 [G/C] NM_030812 ACTL8 EXON Missense_L73V exm24157 1 18149792 [T/C] NM_030812 ACTL8 EXON Missense_P97S exm24166 1 18152424 [A/G] NM_030812 ACTL8 EXON Missense_K171E exm24174 1 18152530 [T/G] NM_030812 ACTL8 EXON Missense_V206G exm24180 1 18152646 [T/C] NM_030812 ACTL8 EXON Missense_R245C exm24184 1 18152665 [T/C] NM_030812 ACTL8 EXON Missense_M251T exm24195 1 18152871 [A/G] NM_030812 ACTL8 EXON Missense_V320I exm1740072 1 18152977 [T/C] NM_030812 ACTL8 EXON Missense_M355T rs7545559 1 18158156 [T/C] rs495347 1 18163922 [T/C] rs491778 1 18164285 [T/C] rs647325 1 18170886 [A/G] rs697760 1 18179816 [T/G] rs12405926 1 18189103 [A/G] rs615917 1 18190225 [T/C] rs542963 1 18195801 [T/C] rs11203223 1 18196800 [T/G] exm2268656 1 18201318 [T/C] rs597865 1 18212230 [T/C] rs12037123 1 18225521 [T/C] rs620547 1 18231349 [T/C] rs12071205 1 18234374 [T/C] rs1339934 1 18236459 [A/G] rs11203232 1 18240000 [A/G] rs12083022 1 18245365 [A/G] rs12407273 1 18252805 [A/C] rs651743 1 18268281 [A/G] rs661977 1 18272751 [T/C] rs1192579 1 18283857 [T/C] rs794230 1 18289252 [T/C] exm-rs16861326 1 18294487 [A/G] rs2095842 1 18297407 [A/G] rs7414500 1 18307682 [T/C] rs1192607 1 18310576 [T/C] rs6685120 1 18311140 [A/G] rs7340046 1 18312084 [T/C] rs11588830 1 18314621 [T/C] rs12022529 1 18325257 [T/C] rs11203253 1 18325885 [T/C] rs1890789 1 18331332 [A/G] rs6678740 1 18335916 [A/G] rs17472583 1 18340025 [A/G] rs11203256 1 18340225 [T/C] rs2355459 1 18349764 [A/G] rs4539169 1 18351999 [T/C] rs2355462 1 18352458 [T/C] rs7550969 1 18353743 [T/C] rs10887986 1 18366795 [T/C] rs7523606 1 18370015 [T/C] rs12034254 1 18373009 [T/C] rs1031567 1 18377790 [A/G] rs4920421 1 18392608 [T/C] NR_125946 LINC01654 Silent rs17486629 1 18405073 [T/C] rs9660584 1 18408767 [T/C] rs12740505 1 18427031 [A/G] rs930851 1 18429575 [A/G] rs930850 1 18432024 [A/G] rs12133062 1 18433355 [A/G] rs4920295 1 18438239 [A/C] NM_032880 IGSF21 Silent rs1858589 1 18447551 [T/C] NM_032880 IGSF21 Silent rs4920435 1 18456382 [A/G] NM_032880 IGSF21 Silent rs12036744 1 18461490 [T/C] NM_032880 IGSF21 Silent rs753305 1 18470009 [T/C] NM_032880 IGSF21 Silent rs10907331 1 18471278 [A/G] NM_032880 IGSF21 Silent rs9329469 1 18473343 [T/C] NM_032880 IGSF21 Silent rs9727014 1 18476187 [T/C] NM_032880 IGSF21 Silent rs9661686 1 18477905 [T/C] NM_032880 IGSF21 Silent rs9726406 1 18501662 [A/C] NM_032880 IGSF21 Silent rs749917 1 18503402 [T/C] NM_032880 IGSF21 Silent rs9728569 1 18510033 [T/G] NM_032880 IGSF21 Silent rs1539051 1 18516989 [T/C] NM_032880 IGSF21 Silent rs767654 1 18521689 [T/C] NM_032880 IGSF21 Silent rs12023073 1 18521755 [T/C] NM_032880 IGSF21 Silent rs4920459 1 18527213 [A/G] NM_032880 IGSF21 Silent rs4920460 1 18527267 [T/C] NM_032880 IGSF21 Silent rs9725311 1 18528026 [A/G] NM_032880 IGSF21 Silent rs1033190 1 18528848 [T/G] NM_032880 IGSF21 Silent rs4920461 1 18533281 [A/G] NM_032880 IGSF21 Silent rs11260958 1 18543784 [T/C] NM_032880 IGSF21 Silent rs11578597 1 18545932 [A/G] NM_032880 IGSF21 Silent rs3738087 1 18554356 [T/C] NM_032880 IGSF21 Silent exm24205 1 18554415 [T/C] NM_032880 IGSF21 EXON Missense_P32S exm2273621 1 18554424 [A/C] NM_032880 IGSF21 EXON Missense_P35T rs17436172 1 18556959 [A/G] NM_032880 IGSF21 Silent rs12041734 1 18561590 [T/C] NM_032880 IGSF21 Silent exm2264991 1 18563889 [A/G] NM_032880 IGSF21 Silent rs109490 1 18572901 [A/G] NM_032880 IGSF21 Silent rs223188 1 18585845 [T/C] NM_032880 IGSF21 Silent rs419971 1 18589620 [A/G] NM_032880 IGSF21 Silent rs11801569 1 18600824 [T/C] NM_032880 IGSF21 Silent rs6603893 1 18615392 [A/G] NM_032880 IGSF21 Silent exm24216 1 18618361 [T/G] NM_032880 IGSF21 EXON Missense_V62G rs12134352 1 18631175 [T/C] NM_032880 IGSF21 Silent rs4920474 1 18643247 [T/C] NM_032880 IGSF21 Silent rs6663855 1 18643577 [A/G] NM_032880 IGSF21 Silent rs4920477 1 18643632 [T/C] NM_032880 IGSF21 Silent rs4920478 1 18655339 [A/G] NM_032880 IGSF21 Silent rs552749 1 18659641 [T/C] NM_032880 IGSF21 Silent exm24224 1 18661400 [A/G] NM_032880 IGSF21 EXON Missense_R107Q rs542634 1 18672774 [A/G] NM_032880 IGSF21 Silent rs555115 1 18676961 [A/G] NM_032880 IGSF21 Silent rs539132 1 18680330 [A/G] NM_032880 IGSF21 Silent rs525448 1 18685434 [A/G] NM_032880 IGSF21 Silent exm2250385 1 18688658 [T/C] NM_032880 IGSF21 EXON Synonymous_F158F exm24233 1 18688663 [A/G] NM_032880 IGSF21 EXON Missense_R160H exm24239 1 18691718 [T/G] NM_032880 IGSF21 EXON Missense_V181G exm24242 1 18691747 [A/G] NM_032880 IGSF21 EXON Missense_D191N exm24243 1 18691750 [T/G] NM_032880 IGSF21 EXON Missense_A192S exm24248 1 18691864 [T/C] NM_032880 IGSF21 EXON Missense_S230P exm24251 1 18691904 [T/C] NM_032880 IGSF21 EXON Missense_T243M exm24253 1 18691919 [A/G] NM_032880 IGSF21 EXON Missense_R248H exm24261 1 18692014 [A/G] NM_032880 IGSF21 EXON Missense_S280G exm1742323 1 18692020 [A/G] NM_032880 IGSF21 EXON Missense_E282K exm24264 1 18692048 [A/G] NM_032880 IGSF21 EXON Missense_R291H rs7543948 1 18693245 [A/C] NM_032880 IGSF21 Silent rs11260991 1 18693707 [T/G] NM_032880 IGSF21 Silent rs12123650 1 18694036 [A/G] NM_032880 IGSF21 Silent rs882916 1 18696215 [A/G] NM_032880 IGSF21 Silent rs10465918 1 18701899 [A/G] NM_032880 IGSF21 Silent exm24276 1 18702848 [T/C] NM_032880 IGSF21 EXON Missense_R354W exm24279 1 18703298 [A/G] NM_032880 IGSF21 EXON Missense_E369G exm24281 1 18703328 [T/C] NM_032880 IGSF21 EXON Missense_T379M exm2232086 1 18703911 [T/C] NM_032880 IGSF21 EXON Missense_T440M exm24310 1 18704791 [A/G] NM_032880 IGSF21 EXON Missense_A459T rs12566510 1 18705694 [A/G] rs7538502 1 18709741 [T/C] rs1336129 1 18722491 [A/G] rs11810587 1 18722692 [T/C] rs1533622 1 18722846 [A/G] rs12138463 1 18724101 [A/G] rs7512723 1 18728581 [T/C] rs7523920 1 18730305 [T/C] rs867538 1 18732980 [T/C] rs9662941 1 18736536 [A/G] rs12128025 1 18750431 [T/C] rs869080 1 18751864 [A/G] rs1568340 1 18766850 [T/C] rs3007722 1 18768011 [T/C] rs12408368 1 18769575 [T/C] rs3007727 1 18793520 [A/G] exm-rs3007729 1 18795255 [T/C] rs3007730 1 18797100 [T/G] rs11261020 1 18805564 [T/C] rs1360918 1 18805988 [A/G] exm24320 1 18807521 [A/C] NM_152375 KLHDC7A EXON Missense_Q16K exm24321 1 18807536 [T/G] NM_152375 KLHDC7A EXON Missense_V21L exm24322 1 18807551 [A/G] NM_152375 KLHDC7A EXON Missense_A26T exm24328 1 18807755 [A/G] NM_152375 KLHDC7A EXON Missense_G94S exm24334 1 18807813 [G/C] NM_152375 KLHDC7A EXON Missense_T113R exm24337 1 18807851 [T/C] NM_152375 KLHDC7A EXON Missense_R126W exm24342 1 18807938 [A/C] NM_152375 KLHDC7A EXON Missense_P155T exm24343 1 18807953 [A/C] NM_152375 KLHDC7A EXON Missense_R160S exm24345 1 18807968 [T/C] NM_152375 KLHDC7A EXON Missense_P165S exm24346 1 18807972 [A/G] NM_152375 KLHDC7A EXON Missense_K166R exm24350 1 18808056 [G/C] NM_152375 KLHDC7A EXON Missense_R194P exm24356 1 18808154 [T/C] NM_152375 KLHDC7A EXON Missense_R227C exm24362 1 18808229 [T/C] NM_152375 KLHDC7A EXON Nonsense_Q252X exm24366 1 18808280 [T/C] NM_152375 KLHDC7A EXON Nonsense_R269X exm24367 1 18808292 [A/C] NM_152375 KLHDC7A EXON Missense_H273N rs2992753 1 18808292 [A/C] NM_152375 KLHDC7A EXON Missense_H273N exm24378 1 18808526 [A/C] NM_152375 KLHDC7A EXON Missense_T351P exm24390 1 18808737 [A/C] NM_152375 KLHDC7A EXON Missense_T421N exm24392 1 18808833 [A/C] NM_152375 KLHDC7A EXON Missense_A453E exm2232087 1 18808975 [A/C] NM_152375 KLHDC7A EXON Nonsense_C500X exm24404 1 18809019 [A/G] NM_152375 KLHDC7A EXON Missense_Q515R exm24406 1 18809047 [A/G] NM_152375 KLHDC7A EXON Missense_M524I exm24425 1 18809483 [A/G] NM_152375 KLHDC7A EXON Missense_A670T exm24427 1 18809516 [T/C] NM_152375 KLHDC7A EXON Missense_R681C exm24432 1 18809574 [A/G] NM_152375 KLHDC7A EXON Missense_R700Q exm24436 1 18809613 [T/C] NM_152375 KLHDC7A EXON Missense_P713L exm24441 1 18809717 [A/G] NM_152375 KLHDC7A EXON Missense_K748E rs4920502 1 18815334 [A/G] rs4531264 1 18816616 [T/C] rs10907314 1 18817181 [A/G] rs6686713 1 18821416 [T/G] rs909948 1 18825203 [A/G] rs4920327 1 18829672 [A/G] rs2745302 1 18839126 [A/G] rs2816025 1 18851113 [T/G] rs2816030 1 18857598 [T/C] rs4920513 1 18861128 [T/C] rs2745327 1 18876408 [A/G] rs4920514 1 18881334 [A/G] rs725387 1 18882231 [T/C] rs10907320 1 18882489 [A/G] rs2816048 1 18893763 [T/C] rs6698315 1 18895806 [A/G] rs2816065 1 18914423 [T/C] rs7543000 1 18932744 [A/G] rs6703076 1 18934081 [T/C] rs4920522 1 18940380 [T/C] exm2250401 1 18961017 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Synonymous_G102G,Synonymous_G102G,Synonymous_G102G exm24465 1 18961612 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_A110V,Missense_A110V,Missense_A110V rs9439713 1 18972776 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs1339062 1 18978482 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs6695765 1 18979320 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs4920338 1 18990793 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs16862125 1 18999794 [A/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs574590 1 19015628 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs2743208 1 19017855 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs2076021 1 19018131 [A/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent exm24487 1 19018263 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_E199G,Missense_E201G,Missense_E201G exm24490 1 19018305 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_R213H,Missense_R215H,Missense_R215H exm24492 1 19018364 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_A233T,Missense_A235T,Missense_A235T rs2076020 1 19018405 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Synonymous_E246E,Synonymous_E248E,Synonymous_E248E rs2743201 1 19027239 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Synonymous_P291P,Synonymous_P293P,Synonymous_P293P rs589463 1 19033575 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs501080 1 19035393 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs6670751 1 19041598 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs17352351 1 19057553 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs9439731 1 19059471 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent exm24516 1 19062163 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_P396L,Missense_P398L,Missense_P398L exm1742986 1 19062204 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_G410S,Missense_G412S,Missense_G412S exm24524 1 19062345 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_G457S,Missense_G459S,Missense_G459S exm24525 1 19062349 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_Y458C,Missense_Y460C,Missense_Y460C exm24539 1 19062493 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_M506T,Silent,Missense_M508T exm24540 1 19062494 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_M506I,Silent,Missense_M508I exm2275428 1 19071356 [A/G] NM_001135254 PAX7 EXON Missense_R484H rs1160680 1 19080506 [A/G] rs2841055 1 19088418 [A/G] rs669138 1 19088899 [T/C] rs2841066 1 19091695 [T/C] rs7414734 1 19094738 [A/G] rs16862248 1 19096297 [T/C] rs12565650 1 19108355 [A/G] rs4920537 1 19109183 [T/C] rs7549129 1 19119606 [T/C] rs7533384 1 19119851 [A/G] rs11261071 1 19122339 [T/C] rs7521204 1 19138295 [T/C] exm-rs12063142 1 19139517 [T/C] rs12026106 1 19145099 [T/C] rs12125880 1 19147761 [A/G] rs11261081 1 19149527 [A/C] rs6691420 1 19155969 [T/C] rs11261084 1 19159657 [A/G] rs12035855 1 19163075 [T/G] exm24547 1 19166100 [T/C] NM_152232 TAS1R2 EXON Missense_R838K exm24549 1 19166140 [T/C] NM_152232 TAS1R2 EXON Missense_A825T exm24550 1 19166157 [A/G] NM_152232 TAS1R2 EXON Missense_P819L exm24566 1 19166479 [T/C] NM_152232 TAS1R2 EXON Missense_D712N exm24567 1 19166482 [T/C] NM_152232 TAS1R2 EXON Missense_D711N exm24573 1 19166592 [T/C] NM_152232 TAS1R2 EXON Missense_R674H exm24581 1 19166641 [T/C] NM_152232 TAS1R2 EXON Missense_A658T exm24582 1 19166647 [T/C] NM_152232 TAS1R2 EXON Missense_V656I exm24583 1 19166665 [T/C] NM_152232 TAS1R2 EXON Missense_V650M exm24585 1 19166668 [T/C] NM_152232 TAS1R2 EXON Missense_A649T exm24593 1 19166823 [T/C] NM_152232 TAS1R2 EXON Missense_R597H exm24594 1 19166829 [A/G] NM_152232 TAS1R2 EXON Missense_I595T exm24597 1 19166893 [T/C] NM_152232 TAS1R2 EXON Missense_A574T exm24604 1 19167003 [C/G] NM_152232 TAS1R2 EXON Missense_A537G rs7534618 1 19170078 [T/G] NM_152232 TAS1R2 Silent rs4920561 1 19175593 [A/G] NM_152232 TAS1R2 Silent variant.1295 1 19175835 [T/C] NM_152232 TAS1R2 EXON Synonymous_T489T exm24613 1 19175846 [T/C] NM_152232 TAS1R2 EXON Missense_I486V exm24615 1 19175875 [T/G] NM_152232 TAS1R2 EXON Missense_K476T exm24619 1 19175895 [T/G] NM_152232 TAS1R2 EXON Nonsense_Y469X exm24620 1 19175900 [A/G] NM_152232 TAS1R2 EXON Missense_Y468H exm24623 1 19175911 [T/C] NM_152232 TAS1R2 EXON Missense_S464N exm24624 1 19175932 [T/C] NM_152232 TAS1R2 EXON Missense_R457Q exm24625 1 19175933 [A/G] NM_152232 TAS1R2 EXON Missense_R457W exm24631 1 19176005 [T/C] NM_152232 TAS1R2 EXON Missense_D433N exm24638 1 19180753 [T/C] NM_152232 TAS1R2 EXON Missense_G404D exm24660 1 19181015 [G/C] NM_152232 TAS1R2 EXON Missense_R317G exm24666 1 19181075 [T/C] NM_152232 TAS1R2 EXON Missense_V297M exm24677 1 19181174 [T/G] NM_152232 TAS1R2 EXON Missense_L264M exm24681 1 19181217 [T/C] NM_152232 TAS1R2 EXON Missense_M249I exm24685 1 19181264 [T/C] NM_152232 TAS1R2 EXON Missense_I234V exm2232096 1 19181312 [T/C] NM_152232 TAS1R2 EXON Missense_D218N exm24696 1 19181330 [T/C] NM_152232 TAS1R2 EXON Missense_S212G exm24697 1 19181336 [C/G] NM_152232 TAS1R2 EXON Missense_V210L exm24700 1 19181365 [T/C] NM_152232 TAS1R2 EXON Missense_H200R exm24702 1 19181393 [T/C] NM_152232 TAS1R2 EXON Missense_I191V exm24712 1 19183875 [T/C] NM_152232 TAS1R2 EXON Missense_E145K exm24715 1 19184075 [A/G] NM_152232 TAS1R2 EXON Missense_A78V exm24718 1 19184082 [A/G] NM_152232 TAS1R2 EXON Missense_R76C exm24724 1 19186030 [T/C] NM_152232 TAS1R2 EXON Missense_H42R exm24728 1 19186093 [A/G] NM_152232 TAS1R2 EXON Missense_P21L exm24729 1 19186115 [C/G] NM_152232 TAS1R2 EXON Missense_L14V exm24730 1 19186129 [G/C] NM_152232 TAS1R2 EXON Missense_S9C rs28410948 1 19188456 [T/C] rs9662598 1 19191326 [A/G] rs28652778 1 19194995 [T/C] kgp468659 1 19198100 [G/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp8524245 1 19198166 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp15236875 1 19198299 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp6288782 1 19198414 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp4426348 1 19198576 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent GA018624 1 19198627 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent GA018625 1 19198637 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp15504222 1 19198837 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent rs9117 1 19198895 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp24983758 1 19198972 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp1588165 1 19199067 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp25228545 1 19199217 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent rs11740 1 19199221 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp15758108 1 19199400 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_P544L,Missense_P544L,Missense_P493L,Missense_P484L exm24753 1 19200974 [G/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_G521A,Missense_G521A,Missense_G470A,Missense_G461A kgp1362896 1 19200988 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_G516G,Synonymous_G516G,Synonymous_G465G,Synonymous_G456G exm24759 1 19201068 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V490M,Missense_V490M,Missense_V439M,Missense_V430M exm24761 1 19201071 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V489I,Missense_V489I,Missense_V438I,Missense_V429I rs6695033 1 19201919 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T473A,Missense_T473A,Missense_T422A,Missense_T413A exm24765 1 19201919 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T473A,Missense_T473A,Missense_T422A,Missense_T413A exm24766 1 19201928 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V470I,Missense_V470I,Missense_V419I,Missense_V410I exm24769 1 19201951 [T/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_K462T,Missense_K462T,Missense_K411T,Missense_K402T rs2230708 1 19201956 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_D460D,Synonymous_D460D,Synonymous_D409D,Synonymous_D400D rs6426802 1 19202507 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent exm24778 1 19202886 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_C421R,Missense_C421R,Silent,Missense_C361R exm2264807 1 19202896 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_A417A,Synonymous_A417A,Silent,Synonymous_A357A GA018629 1 19202926 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_A407A,Synonymous_A407A,Silent,Synonymous_A347A exm24789 1 19202933 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_E405G,Missense_E405G,Silent,Missense_E345G exm24795 1 19203725 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_F388L,Missense_F388L,Missense_F388L,Missense_F328L kgp10529598 1 19203725 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_F388L,Missense_F388L,Missense_F388L,Missense_F328L exm24797 1 19203910 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_D379D,Synonymous_D379D,Synonymous_D379D,Synonymous_D319D exm24800 1 19203951 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_G366R,Missense_G366R,Missense_G366R,Missense_G306R kgp789765 1 19203961 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_P362P,Synonymous_P362P,Synonymous_P362P,Synonymous_P302P exm24804 1 19203974 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_H358R,Missense_H358R,Missense_H358R,Missense_H298R GA000342 1 19203997 [C/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_A350A,Synonymous_A350A,Synonymous_A350A,Synonymous_A290A exm24808 1 19203999 [A/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_A350S,Missense_A350S,Missense_A350S,Missense_A290S exm24820 1 19205865 [G/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T290S,Missense_T290S,Missense_T290S,Missense_T230S exm24821 1 19208194 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_P289L,Missense_P289L,Missense_P289L,Missense_P229L exm24826 1 19208293 [C/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_P256R,Missense_P256R,Missense_P256R,Missense_P196R kgp15160198 1 19208316 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_I248I,Synonymous_I248I,Synonymous_I248I,Synonymous_I188I kgp15749192 1 19209759 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504,NR_039844 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1,MIR4695 EXON Silent,Silent,Silent,Silent,Silent exm24847 1 19209792 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T195M,Missense_T195M,Missense_T195M,Missense_T135M rs7365362 1 19210816 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent exm24856 1 19211987 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_A145T,Missense_A145T,Missense_A145T,Missense_A85T exm24865 1 19212051 [G/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_D123E,Missense_D123E,Missense_D123E,Missense_D63E rs4911985 1 19215440 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent exm24875 1 19215861 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V82M,Missense_V82M,Missense_V82M,Missense_V22M exm24879 1 19215906 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V67M,Missense_V67M,Missense_V67M,Missense_V7M exm2232099 1 19215926 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_R60Q,Missense_R60Q,Missense_R60Q,Silent exm24881 1 19215927 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_R60W,Missense_R60W,Missense_R60W,Silent rs28582076 1 19217295 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp15297026 1 19217299 [C/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent rs7554974 1 19224486 [T/C] NM_170726,NM_003748,NM_001319218 ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent kgp15363246 1 19229092 [A/G] NM_170726,NM_003748,NM_001319218 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent exm24900 1 19235138 [T/C] NM_001136265 IFFO2 EXON Missense_V491M rs6673711 1 19235517 [T/C] NM_001136265 IFFO2 Silent exm24907 1 19236932 [T/C] NM_001136265 IFFO2 EXON Missense_R451Q exm24915 1 19243446 [T/C] NM_001136265 IFFO2 EXON Missense_V352I variant.1309 1 19244930 [A/G] NM_001136265 IFFO2 EXON Nonsense_R297X rs6674337 1 19255754 [A/G] NM_001136265 IFFO2 Silent rs17387963 1 19258375 [A/G] NM_001136265 IFFO2 Silent rs16862387 1 19258723 [A/G] NM_001136265 IFFO2 Silent rs992660 1 19261241 [A/G] NM_001136265 IFFO2 Silent rs2024727 1 19274525 [T/C] NM_001136265 IFFO2 Silent rs4912013 1 19284564 [T/C] rs16862410 1 19293290 [T/C] rs17384241 1 19297205 [A/G] rs2313162 1 19303762 [T/C] rs6697292 1 19320209 [T/G] rs7531434 1 19335792 [A/C] rs7531834 1 19344501 [A/G] rs912845 1 19358015 [A/C] rs10492996 1 19365552 [T/C] rs6683868 1 19375841 [A/G] rs4912036 1 19376017 [A/G] rs10916867 1 19391177 [A/G] exm24927 1 19401331 [T/G] NM_020765 UBR4 EXON Missense_P5183T exm24930 1 19401367 [G/C] NM_020765 UBR4 EXON Missense_P5171A exm24932 1 19401382 [T/A] NM_020765 UBR4 EXON Missense_S5166T exm24935 1 19403234 [T/C] NM_020765 UBR4 EXON Missense_G5163S exm2232105 1 19404544 [T/C] NM_020765 UBR4 EXON Missense_V5084M rs2146866 1 19405237 [A/G] NM_020765 UBR4 Silent exm24960 1 19407898 [A/G] NM_020765 UBR4 EXON Missense_R5060W exm24963 1 19407912 [T/C] NM_020765 UBR4 EXON Missense_R5055H exm24965 1 19408014 [A/G] NM_020765 UBR4 EXON Missense_P5021L exm2275429 1 19411111 [A/G] NM_020765 UBR4 EXON Synonymous_F4965F variant.1314 1 19412634 [T/C] NM_020765 UBR4 Silent exm24985 1 19413207 [T/C] NM_020765 UBR4 EXON Missense_I4885V exm24987 1 19413261 [A/T] NM_020765 UBR4 EXON Missense_M4867L exm24994 1 19415254 [A/G] NM_020765 UBR4 EXON Missense_T4810M exm24998 1 19415369 [A/G] NM_020765 UBR4 EXON Missense_R4772W rs16862517 1 19415439 [T/C] NM_020765 UBR4 EXON Synonymous_L4748L exm25001 1 19415446 [A/G] NM_020765 UBR4 EXON Missense_P4746L exm25002 1 19415470 [A/C] NM_020765 UBR4 EXON Missense_V4738G exm2250429 1 19422060 [A/G] NM_020765 UBR4 EXON Synonymous_V4535V exm25030 1 19423098 [T/C] NM_020765 UBR4 EXON Missense_M4479I exm25037 1 19427021 [T/G] NM_020765 UBR4 EXON Missense_P4357H exm25048 1 19431115 [T/C] NM_020765 UBR4 EXON Missense_D4231N exm25051 1 19431567 [A/G] NM_020765 UBR4 EXON Missense_P4207L exm1743856 1 19432290 [A/G] NM_020765 UBR4 EXON Missense_T4147I exm25064 1 19432330 [A/C] NM_020765 UBR4 EXON Missense_F4134V variant.1317 1 19436585 [A/G] NM_020765 UBR4 Silent indel.1318 1 19436596 [D/I] NM_020765 UBR4 EXON exm25076 1 19436950 [A/G] NM_020765 UBR4 EXON Synonymous_S3967S exm2250432 1 19436950 [A/G] NM_020765 UBR4 EXON Synonymous_S3967S exm25082 1 19437319 [A/G] NM_020765 UBR4 EXON Missense_P3937S exm25086 1 19439136 [T/C] NM_020765 UBR4 EXON Missense_A3895T exm25113 1 19440481 [T/G] NM_020765 UBR4 EXON Missense_N3762K exm25135 1 19443890 [T/C] NM_020765 UBR4 EXON Missense_I3550V exm25146 1 19446119 [A/G] NM_020765 UBR4 EXON Missense_R3463C exm25163 1 19446804 [T/C] NM_020765 UBR4 EXON Missense_A3394T exm25165 1 19447752 [T/G] NM_020765 UBR4 EXON Missense_Q3358K exm25177 1 19448473 [T/C] NM_020765 UBR4 EXON Missense_A3284T exm25183 1 19449430 [T/C] NM_020765 UBR4 EXON Missense_R3238H exm25209 1 19455492 [A/G] NM_020765 UBR4 EXON Missense_R2995W exm25211 1 19455509 [T/C] NM_020765 UBR4 EXON Missense_R2989Q exm25214 1 19464666 [T/C] NM_020765 UBR4 EXON Missense_R2914Q exm25224 1 19467368 [A/G] NM_020765 UBR4 EXON Missense_L2836P exm25228 1 19467924 [T/G] NM_020765 UBR4 EXON Missense_P2802H exm25232 1 19468217 [C/G] NM_020765 UBR4 EXON Missense_G2745A exm25238 1 19471374 [T/C] NM_020765 UBR4 EXON Missense_N2658S exm25240 1 19471390 [T/C] NM_020765 UBR4 EXON Missense_I2653V exm25268 1 19477246 [A/C] NM_020765 UBR4 EXON Missense_A2419S exm25279 1 19478303 [G/C] NM_020765 UBR4 EXON Missense_M2349I exm25284 1 19478814 [T/C] NM_020765 UBR4 EXON Missense_N2330S exm25295 1 19480281 [G/C] NM_020765 UBR4 EXON Missense_T2204S newrs113068889 1 19482760 [T/C] NM_020765 UBR4 Silent exm25323 1 19482788 [T/C] NM_020765 UBR4 EXON Missense_I2017V exm25376 1 19489077 [A/T] NM_020765 UBR4 EXON Missense_H1598L exm1744133 1 19491416 [T/C] NM_020765 UBR4 EXON Missense_R1463H exm25401 1 19492160 [A/G] NM_020765 UBR4 EXON Missense_F1401L exm25404 1 19493520 [T/G] NM_020765 UBR4 EXON Missense_N1369H exm25405 1 19493528 [A/G] NM_020765 UBR4 EXON Missense_A1366V exm25410 1 19493633 [T/C] NM_020765 UBR4 EXON Missense_S1331N exm25423 1 19494605 [A/G] NM_020765 UBR4 EXON Missense_T1272I exm25429 1 19496018 [T/G] NM_020765 UBR4 EXON Missense_L1218M exm25430 1 19496023 [A/G] NM_020765 UBR4 EXON Missense_P1216L exm25435 1 19497330 [A/G] NM_020765 UBR4 EXON Missense_P1190L exm1744174 1 19499427 [A/G] NM_020765 UBR4 EXON Missense_S1151L exm25450 1 19499560 [T/C] NM_020765 UBR4 EXON Missense_T1107A rs1009806 1 19500551 [T/C] NM_020765 UBR4 Silent exm-rs1009806 1 19500551 [T/C] NM_020765 UBR4 Silent rs6694521 1 19500729 [A/G] NM_020765 UBR4 Silent exm25465 1 19500830 [T/G] NM_020765 UBR4 EXON Missense_K989Q exm25480 1 19503178 [A/C] NM_020765 UBR4 EXON Missense_G894V exm25481 1 19503181 [T/C] NM_020765 UBR4 EXON Missense_S893N exm1744194 1 19503185 [T/C] NM_020765 UBR4 EXON Missense_A892T exm25489 1 19504046 [T/C] NM_020765 UBR4 EXON Missense_R849H exm25490 1 19504062 [T/C] NM_020765 UBR4 EXON Missense_M844V exm25495 1 19504194 [A/G] NM_020765 UBR4 EXON Missense_P800S exm25497 1 19504227 [T/C] NM_020765 UBR4 EXON Missense_T789A exm25513 1 19510596 [T/C] NM_020765 UBR4 EXON Missense_R671Q exm25534 1 19518713 [A/C] NM_020765 UBR4 EXON Missense_V455L 1KG_1_19518754 1 19518754 [D/I] NM_020765 UBR4 EXON exm25554 1 19524224 [A/G] NM_020765 UBR4 EXON Missense_L278S exm25562 1 19525154 [A/C] NM_020765 UBR4 EXON Missense_A177S exm1744229 1 19525294 [A/G] NM_020765 UBR4 EXON Synonymous_D169D exm25564 1 19525376 [T/C] NM_020765 UBR4 EXON Missense_R142Q rs9426682 1 19533303 [A/G] NM_020765 UBR4 Silent rs2073105 1 19549864 [T/C] NR_135114,NR_135115,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,LOC101927895,EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent,Silent,Silent rs710871 1 19549989 [A/G] NR_135114,NR_135115,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Silent,Synonymous_I737I,Synonymous_I758I,Synonymous_I758I,Synonymous_I759I exm25630 1 19550017 [A/G] NR_135114,NR_135115,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Silent,Missense_A728V,Missense_A749V,Missense_A749V,Missense_A750V exm25631 1 19550018 [T/C] NR_135114,NR_135115,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Silent,Missense_A728T,Missense_A749T,Missense_A749T,Missense_A750T rs3762395 1 19556408 [T/C] NR_135114,NR_135115,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm1744334 1 19557348 [T/C] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_R663Q,Missense_R684Q,Missense_R684Q,Missense_R685Q exm25642 1 19557424 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Nonsense_R638X,Nonsense_R659X,Nonsense_R659X,Nonsense_R660X exm25650 1 19557838 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_R599C,Missense_R620C,Missense_R620C,Missense_R621C variant.1330 1 19557893 [A/C] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Nonsense_Y580X,Nonsense_Y601X,Nonsense_Y601X,Nonsense_Y602X exm25654 1 19557912 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_S574L,Missense_S595L,Missense_S595L,Missense_S596L variant.1331 1 19559428 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent,Silent rs16862632 1 19563900 [T/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent,Silent exm25678 1 19564513 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_R382W,Missense_R404W,Missense_R403W,Missense_R404W exm25679 1 19564521 [T/C] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_R379Q,Missense_R401Q,Missense_R400Q,Missense_R401Q exm25681 1 19564554 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_T368M,Missense_T390M,Missense_T389M,Missense_T390M exm25684 1 19564614 [T/C] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_N348S,Missense_N370S,Missense_N369S,Missense_N370S exm25689 1 19565320 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_M331T,Missense_M353T,Missense_M352T,Missense_M353T exm25690 1 19565338 [T/C] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_S325N,Missense_S347N,Missense_S346N,Missense_S347N exm25691 1 19565344 [G/C] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_S323T,Missense_S345T,Missense_S344T,Missense_S345T rs2273046 1 19566296 [T/C] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent,Silent variant.1332 1 19566311 [T/C] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent,Silent exm25697 1 19566340 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_T287M,Missense_T309M,Missense_T309M,Missense_T309M exm25701 1 19566382 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_L273S,Missense_L295S,Missense_L295S,Missense_L295S exm25705 1 19566858 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_P218L,Missense_P240L,Missense_P240L,Missense_P240L exm25706 1 19566860 [G/C] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_D217E,Missense_D239E,Missense_D239E,Missense_D239E exm-rs710865 1 19568972 [A/G] NM_001271429,NM_001271428,NM_001271427,NM_015047 EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent rs710865 1 19568972 [A/G] NM_001271429,NM_001271428,NM_001271427,NM_015047 EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent variant.1334 1 19570511 [T/C] NM_001271429,NM_001271428,NM_001271427,NM_015047 EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent exm25751 1 19577943 [T/C] NM_001271429,NM_001271428,NM_001271427,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_A21T,Missense_A21T,Missense_A21T,Missense_A21T rs2294942 1 19578192 [A/G] NM_016183 MRTO4 EXON Silent exm25778 1 19583602 [A/G] NM_016183 MRTO4 EXON Missense_R79Q exm25784 1 19583991 [A/G] NM_016183 MRTO4 EXON Missense_N106S exm25785 1 19583994 [A/G] NM_016183 MRTO4 EXON Missense_R107H rs1042380 1 19584004 [A/G] NM_016183 MRTO4 EXON Synonymous_E110E exm25790 1 19584327 [A/G] NM_016183 MRTO4 EXON Synonymous_E114E exm25791 1 19584329 [C/G] NM_016183 MRTO4 EXON Missense_W115S exm25808 1 19584997 [A/G] NM_016183 MRTO4 EXON Missense_E174K exm25814 1 19585190 [C/G] NM_016183 MRTO4 EXON Missense_E196Q exm25822 1 19585276 [C/G] NM_016183 MRTO4 EXON Missense_E224D rs7551095 1 19586684 [A/G] rs7527253 1 19593199 [T/C] NR_040289,NM_001348421,NR_040288 AKR7L,AKR7L,AKR7L EXON Silent,Silent,Silent rs4912064 1 19602979 [T/G] exm25899 1 19609262 [T/C] NM_012067 AKR7A3 EXON Missense_H320R exm25927 1 19611241 [T/C] NM_012067 AKR7A3 EXON Missense_N215D exm25930 1 19611267 [A/G] NM_012067 AKR7A3 EXON Missense_T206I exm25939 1 19611583 [T/C] NM_012067 AKR7A3 EXON Missense_Q178R rs12407355 1 19627876 [T/C] rs12132200 1 19627931 [T/C] exm2268658 1 19632332 [T/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 Silent,Silent exm25999 1 19633520 [T/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_S220N,Missense_S255N rs1043657 1 19635011 [T/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_A142T,Missense_A142T exm26034 1 19635011 [T/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_A142T,Missense_A142T exm26037 1 19635032 [T/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_V135M,Missense_V135M exm1744664 1 19638435 [T/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_A62T,Missense_A62T rs859218 1 19640676 [T/C] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 Silent,Silent,Silent,Silent,Silent exm26063 1 19644218 [A/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Silent,Missense_S16N,Silent,Missense_S16N,Silent rs4912069 1 19645673 [A/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 Silent,Silent,Silent,Silent,Silent rs3790775 1 19650220 [A/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 Silent,Silent,Silent,Silent,Silent exm26086 1 19652766 [T/C] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Missense_L72S,Missense_L137S,Missense_L26S,Missense_L137S,Silent exm26088 1 19652789 [A/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Missense_A80T,Missense_A145T,Missense_A34T,Missense_A145T,Silent exm26095 1 19652874 [A/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Missense_G108D,Missense_G173D,Missense_G62D,Missense_G173D,Silent exm26106 1 19653802 [G/C] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Missense_V169L,Missense_V234L,Missense_V123L,Missense_V234L,Silent rs2268813 1 19666808 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent variant.1361 1 19669315 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB EXON Nonsense_Q259X,Silent,Silent,Silent exm26119 1 19670861 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB EXON Missense_N241S,Missense_N241S,Silent,Missense_N270S rs214327 1 19674070 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent rs214336 1 19678473 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent rs12751502 1 19680532 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent rs169957 1 19683301 [T/G] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent rs6663076 1 19706751 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent newrs74941542 1 19712215 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs1472566 1 19713004 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs7667 1 19718824 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs7513800 1 19725033 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs1566531 1 19727896 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs4912086 1 19730181 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs12026907 1 19738518 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs6661421 1 19755204 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent exm-rs12045440 1 19765518 [T/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs12754186 1 19766326 [T/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs10917452 1 19770968 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs10492998 1 19772847 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs4912096 1 19775113 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent exm26147 1 19775375 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB EXON Silent,Silent,Missense_R12C,Silent,Silent rs4481878 1 19791086 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs4912100 1 19798007 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs924519 1 19806259 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent exm2259924 1 19806692 [T/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs10917459 1 19806692 [T/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs10917461 1 19809758 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs2314146 1 19824008 [A/G] rs11807599 1 19831939 [T/C] rs12084204 1 19832567 [T/C] rs12087005 1 19837932 [A/G] exm-rs12138950 1 19839115 [A/C] rs10799824 1 19841174 [A/G] exm-rs10917468 1 19843354 [T/C] rs9783019 1 19849656 [A/G] rs4912110 1 19861027 [T/C] rs10917477 1 19861106 [A/G] rs12123337 1 19862411 [T/C] rs4912122 1 19876438 [A/G] rs1572823 1 19889959 [T/C] rs2792029 1 19899537 [A/C] rs1737416 1 19922387 [T/C] NR_135054 LOC105378614 Silent rs1770489 1 19945189 [A/G] NM_001204089,NM_001204082,NM_001204088,NR_033758,NM_001032363,NM_001204083,NR_033757 MINOS1-NBL1,MINOS1,MINOS1-NBL1,MINOS1,MINOS1,MINOS1,MINOS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1320978 1 19947973 [A/G] NM_001204089,NM_001204082,NM_001204088,NR_033758,NM_001032363,NM_001204083,NR_033757 MINOS1-NBL1,MINOS1,MINOS1-NBL1,MINOS1,MINOS1,MINOS1,MINOS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1745453 1 19952887 [T/G] NM_001204089,NM_001204082,NM_001204088,NR_033758,NM_001032363,NM_001204083,NR_033757 MINOS1-NBL1,MINOS1,MINOS1-NBL1,MINOS1,MINOS1,MINOS1,MINOS1 EXON Silent,Nonsense_E61X,Silent,Silent,Nonsense_E77X,Silent,Silent rs2281237 1 19953165 [A/G] NM_001204089,NM_001204082,NM_001204088,NR_033758,NM_001032363,NM_001204083,NR_033757 MINOS1-NBL1,MINOS1,MINOS1-NBL1,MINOS1,MINOS1,MINOS1,MINOS1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs880554 1 19954014 [T/G] NM_001204089,NM_001204082,NM_001204088,NR_033758,NM_001032363,NM_001204083,NR_033757 MINOS1-NBL1,MINOS1,MINOS1-NBL1,MINOS1,MINOS1,MINOS1,MINOS1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2792061 1 19958729 [A/G] NM_001204089,NM_001204088 MINOS1-NBL1,MINOS1-NBL1 Silent,Silent rs7523079 1 19962874 [T/C] NM_001204089,NM_001204088 MINOS1-NBL1,MINOS1-NBL1 Silent,Silent rs1115163 1 19976782 [A/G] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086,NM_001278166 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm26180 1 19981530 [T/C] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086,NM_001278166 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 EXON Missense_L3F,Missense_L17F,Missense_L3F,Missense_L38F,Missense_L3F,Missense_L3F,Missense_L3F,Missense_L3F,Missense_L37F,Missense_L3F exm26195 1 19983491 [A/G] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086,NM_001278166 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 EXON Missense_E139K,Missense_E153K,Missense_E139K,Missense_E174K,Missense_E139K,Missense_E139K,Missense_E139K,Missense_E139K,Missense_E173K,Missense_E139K rs6693503 1 19987294 [A/G] exm26216 1 19992380 [C/G] NM_000871 HTR6 EXON Missense_S45W exm2250466 1 19992510 [A/G] NM_000871 HTR6 EXON Synonymous_L88L rs1805054 1 19992513 [T/C] NM_000871 HTR6 EXON Synonymous_Y89Y rs6699866 1 19999645 [A/C] NM_000871 HTR6 Silent rs9659997 1 20002518 [T/C] NM_000871 HTR6 Silent newrs140928691 1 20005219 [A/G] NM_000871 HTR6 Silent exm2232178 1 20005457 [T/C] NM_000871 HTR6 EXON Missense_W307R exm26248 1 20005463 [T/G] NM_000871 HTR6 EXON Missense_G309C exm2250468 1 20005528 [A/G] NM_000871 HTR6 EXON Synonymous_A330A exm26264 1 20005661 [A/C] NM_000871 HTR6 EXON Missense_P375T exm26281 1 20005854 [T/C] NM_000871 HTR6 EXON Missense_T439M rs9064 1 20008880 [T/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Silent,Silent,Silent,Silent exm26299 1 20009745 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_P565S,Missense_P565S,Missense_P565S,Missense_P565S exm26311 1 20009849 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_G530E,Missense_G530E,Missense_G530E,Missense_G530E rs7533981 1 20014739 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs3748748 1 20018195 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs1883567 1 20020466 [T/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent exm26319 1 20020986 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_G481S,Missense_G481S,Missense_G481S,Missense_G481S exm26323 1 20020994 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_R478H,Missense_R478H,Missense_R478H,Missense_R478H rs4515815 1 20020994 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_R478H,Missense_R478H,Missense_R478H,Missense_R478H exm26327 1 20021022 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_V469M,Missense_V469M,Missense_V469M,Missense_V469M rs3934191 1 20026572 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent exm2232181 1 20027271 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_G458S,Missense_G458S,Missense_G458S,Missense_G458S exm26335 1 20027339 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_A435V,Missense_A435V,Missense_A435V,Missense_A435V exm26337 1 20027355 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_V430I,Missense_V430I,Missense_V430I,Missense_V430I rs6657561 1 20030565 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs4486471 1 20056631 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent exm2268659 1 20056631 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent exm2275320 1 20063896 [T/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Nonsense_Y411X,Nonsense_Y411X,Nonsense_Y411X,Nonsense_Y411X exm26344 1 20063936 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_V398A,Missense_V398A,Missense_V398A,Missense_V398A exm26352 1 20066405 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_N364S,Missense_N364S,Missense_N364S,Missense_N364S rs6426825 1 20066490 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent exm26359 1 20067299 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_Q338R,Missense_Q338R,Missense_Q338R,Missense_Q338R exm26360 1 20067320 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_G331D,Missense_G331D,Missense_G331D,Missense_G331D exm1745663 1 20067396 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_R306C,Missense_R306C,Missense_R306C,Missense_R306C exm26367 1 20072025 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_R293C,Missense_R293C,Missense_R293C,Missense_R293C,Missense_R293C exm26370 1 20072058 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_A282T,Missense_A282T,Missense_A282T,Missense_A282T,Missense_A282T exm26373 1 20072082 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_G274S,Missense_G274S,Missense_G274S,Missense_G274S,Missense_G274S exm26376 1 20072127 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Nonsense_R259X,Nonsense_R259X,Nonsense_R259X,Nonsense_R259X,Nonsense_R259X exm26385 1 20073044 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_T221M,Missense_T221M,Missense_T221M,Missense_T221M,Missense_T221M exm1745680 1 20073053 [A/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_G218V,Missense_G218V,Missense_G218V,Missense_G218V,Missense_G218V exm26386 1 20073057 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_A217T,Missense_A217T,Missense_A217T,Missense_A217T,Missense_A217T variant.1379 1 20073655 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent exm26394 1 20073700 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_Y190C,Missense_Y190C,Missense_Y190C,Missense_Y190C,Missense_Y190C exm26395 1 20073703 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_R189H,Missense_R189H,Missense_R189H,Missense_R189H,Missense_R189H exm26396 1 20073719 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_R184W,Missense_R184W,Missense_R184W,Missense_R184W,Missense_R184W variant.1381 1 20073737 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Nonsense_R178X,Nonsense_R178X,Nonsense_R178X,Nonsense_R178X,Nonsense_R178X exm26403 1 20082209 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_L145F,Missense_L145F,Missense_L145F,Missense_L145F,Missense_L145F exm26405 1 20082230 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_V138I,Missense_V138I,Missense_V138I,Missense_V138I,Missense_V138I exm26406 1 20082247 [G/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_A132G,Missense_A132G,Missense_A132G,Missense_A132G,Missense_A132G rs10917532 1 20082849 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs1473688 1 20087406 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs1266438 1 20096176 [T/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent exm26412 1 20097817 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_P113L,Missense_P113L,Missense_P113L,Missense_P113L,Missense_P113L exm26418 1 20097941 [T/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_Q72K,Missense_Q72K,Missense_Q72K,Missense_Q72K,Missense_Q72K rs6426826 1 20101034 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent exm26419 1 20107076 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_H59R,Missense_H59R,Missense_H59R,Missense_H59R,Missense_H59R exm26426 1 20107136 [C/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_R39P,Missense_R39P,Missense_R39P,Missense_R39P,Missense_R39P exm26430 1 20107218 [C/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_P12A,Missense_P12A,Missense_P12A,Missense_P12A,Missense_P12A rs2314757 1 20131771 [T/C] rs7513083 1 20138121 [T/C] rs7513369 1 20138436 [A/C] exm-rs1317209 1 20140036 [A/G] exm26437 1 20140973 [T/G] NM_019062 RNF186 EXON Missense_P208T exm26438 1 20140974 [T/C] NM_019062 RNF186 EXON Nonsense_W207X exm1746264 1 20141059 [T/C] NM_019062 RNF186 EXON Missense_R179Q exm26442 1 20141060 [A/G] NM_019062 RNF186 EXON Nonsense_R179X exm26450 1 20141126 [T/C] NM_019062 RNF186 EXON Missense_A157T exm26453 1 20141138 [A/G] NM_019062 RNF186 EXON Missense_R153W exm2232242 1 20141180 [C/G] NM_019062 RNF186 EXON Missense_E139Q exm26459 1 20141237 [T/G] NM_019062 RNF186 EXON Missense_P120T exm26474 1 20141405 [T/C] NM_019062 RNF186 EXON Missense_A64T exm26476 1 20141418 [A/C] NM_019062 RNF186 EXON Missense_Q59H exm26481 1 20141464 [T/C] NM_019062 RNF186 EXON Missense_R44Q exm26482 1 20141465 [A/G] NM_019062 RNF186 EXON Missense_R44W exm26484 1 20141528 [T/C] NM_019062 RNF186 EXON Missense_A23T exm26485 1 20141552 [T/C] NM_019062 RNF186 EXON Missense_A15T rs3806310 1 20142681 [A/G] exm-rs3806308 1 20142866 [T/C] rs17396847 1 20144332 [A/G] rs9651026 1 20146417 [A/G] rs4655232 1 20150998 [A/G] rs4509550 1 20158241 [T/C] rs6426833 1 20171860 [A/G] rs10917557 1 20173263 [A/G] rs10737482 1 20173858 [T/C] rs6690967 1 20183342 [T/C] rs16823060 1 20188458 [T/G] rs4654897 1 20191436 [T/C] rs4654903 1 20200990 [A/G] exm26500 1 20216965 [G/C] NM_015207 OTUD3 EXON Missense_M103I exm26507 1 20224085 [A/G] NM_015207 OTUD3 EXON Missense_Y179C exm26508 1 20224118 [A/G] NM_015207 OTUD3 EXON Missense_N190S exm-rs4654925 1 20227723 [C/G] NM_015207 OTUD3 Silent exm1746649 1 20232954 [T/C] NM_015207 OTUD3 EXON Nonsense_R289X exm26519 1 20233051 [A/G] NM_015207 OTUD3 EXON Missense_N321S exm26522 1 20233086 [A/G] NM_015207 OTUD3 EXON Missense_A333T indel.1388 1 20234076 [I/D] NM_015207 OTUD3 EXON exm26525 1 20234082 [A/G] NM_015207 OTUD3 EXON Missense_R347Q exm26528 1 20234177 [A/G] NM_015207 OTUD3 EXON Missense_S379G exm26530 1 20234222 [A/G] NM_015207 OTUD3 EXON Missense_A394T exm26531 1 20234225 [T/G] NM_015207 OTUD3 EXON Missense_A395S rs1046548 1 20238343 [A/G] NM_015207 OTUD3 EXON Silent exm26538 1 20246852 [T/C] NM_014589 PLA2G2E EXON Missense_K126R exm26541 1 20246876 [T/C] NM_014589 PLA2G2E EXON Missense_R118H rs12028511 1 20247674 [A/C] NM_014589 PLA2G2E Silent rs1108974 1 20248709 [A/G] NM_014589 PLA2G2E Silent exm26548 1 20248865 [T/C] NM_014589 PLA2G2E EXON Missense_R71H exm26553 1 20249150 [T/C] NM_014589 PLA2G2E EXON Missense_G47S exm26556 1 20249203 [T/C] NM_014589 PLA2G2E EXON Missense_E29G rs1796915 1 20260536 [A/G] rs1796918 1 20262931 [T/C] rs818968 1 20279405 [T/C] rs12408941 1 20285487 [A/G] rs12023742 1 20292006 [A/C] rs13375942 1 20292378 [T/C] rs6672057 1 20293791 [T/C] rs4655020 1 20295022 [T/G] rs10916683 1 20300544 [A/G] rs11677 1 20301964 [A/G] NM_001161728,NM_001161729,NM_001161727,NM_000300 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Silent,Silent,Silent,Silent exm26568 1 20302201 [T/C] NM_001161728,NM_001161729,NM_001161727,NM_000300 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Missense_R143H,Missense_R143H,Missense_R143H,Missense_R143H exm26570 1 20302261 [A/G] NM_001161728,NM_001161729,NM_001161727,NM_000300 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Missense_T123M,Missense_T123M,Missense_T123M,Missense_T123M exm26577 1 20304583 [A/G] NM_001161728,NM_001161729,NM_001161727,NM_000300 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Missense_R73C,Missense_R73C,Missense_R73C,Missense_R73C exm26590 1 20305003 [A/G] NM_001161728,NM_001161729,NM_001161727,NM_000300 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Missense_H19Y,Missense_H19Y,Missense_H19Y,Missense_H19Y exm2232279 1 20305016 [A/G] NM_001161728,NM_001161729,NM_001161727,NM_000300 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Synonymous_G14G,Synonymous_G14G,Synonymous_G14G,Synonymous_G14G rs12568139 1 20311676 [A/G] rs12021819 1 20316055 [A/C] rs1093661 1 20342503 [T/G] rs12410635 1 20373391 [T/G] rs617363 1 20380145 [T/C] rs12405285 1 20387608 [T/C] rs606980 1 20394713 [T/C] rs11573191 1 20396415 [A/G] rs656110 1 20397240 [A/G] NM_000929 PLA2G5 Silent rs11573219 1 20402767 [T/C] NM_000929 PLA2G5 Silent rs11573238 1 20406586 [A/G] NM_000929 PLA2G5 Silent rs660414 1 20410795 [A/G] NM_000929 PLA2G5 Silent exm26638 1 20417136 [A/G] NM_000929 PLA2G5 EXON Missense_R123Q rs6699362 1 20423099 [T/G] rs656755 1 20424167 [T/G] rs599367 1 20434402 [T/C] rs7518058 1 20437563 [T/C] exm1747582 1 20440684 [A/G] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_R121C,Silent exm26660 1 20442005 [T/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_H96R,Silent exm26662 1 20442054 [T/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_S80G,Silent indel.1397 1 20442071 [I/D] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON exm26667 1 20442074 [T/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_H73R,Silent exm26669 1 20442866 [T/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_G49R,Missense_G49R exm26672 1 20442878 [T/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_G45S,Missense_G45S exm26674 1 20442892 [A/G] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_S40F,Missense_S40F exm2275431 1 20442928 [A/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_M28R,Missense_M28R exm1747660 1 20445950 [A/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D Silent,Silent rs12722987 1 20455220 [A/C] exm2232325 1 20466003 [A/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_R28H,Silent exm26688 1 20466711 [A/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_V57I,Missense_V14I exm26698 1 20470056 [A/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_R96H,Missense_R53H exm26706 1 20471183 [A/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F Silent,Silent indel.1408 1 20474722 [D/I] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON exm26708 1 20474766 [T/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Nonsense_R170X,Nonsense_R127X exm26710 1 20474779 [A/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_R174H,Missense_R131H exm26711 1 20474794 [T/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_V179G,Missense_V136G exm26713 1 20474812 [T/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_T185M,Missense_T142M rs876171 1 20487743 [T/C] exm26723 1 20490518 [T/C] NM_001316722 PLA2G2C EXON Missense_Q137R exm2250501 1 20490580 [A/G] NM_001316722 PLA2G2C EXON Synonymous_S116S rs7515752 1 20491842 [A/G] NM_001316722 PLA2G2C Silent rs2301475 1 20499168 [T/C] NM_001316722 PLA2G2C Silent indel.1411 1 20501498 [I/D] NM_001316722 PLA2G2C exm26737 1 20501582 [A/G] NM_001316722 PLA2G2C EXON Nonsense_R33X rs12139100 1 20501582 [A/G] NM_001316722 PLA2G2C EXON Nonsense_R33X exm26743 1 20501665 [A/G] NM_001316722 PLA2G2C Silent rs2301478 1 20501974 [A/G] NM_001316722 PLA2G2C Silent variant.1413 1 20517136 [T/C] NM_152376 UBXN10 EXON Nonsense_Q28X variant.1415 1 20517355 [T/C] NM_152376 UBXN10 EXON Nonsense_Q101X exm26759 1 20517463 [A/G] NM_152376 UBXN10 EXON Missense_A137T exm26761 1 20517491 [A/G] NM_152376 UBXN10 EXON Missense_R146Q exm26765 1 20517508 [A/G] NM_152376 UBXN10 EXON Missense_E152K variant.1417 1 20517583 [T/C] NM_152376 UBXN10 EXON Nonsense_R177X indel.1418 1 20517621 [D/I] NM_152376 UBXN10 EXON exm26770 1 20517632 [T/C] NM_152376 UBXN10 EXON Missense_S193L exm1747945 1 20517755 [T/C] NM_152376 UBXN10 EXON Missense_T234I exm26775 1 20517763 [T/C] NM_152376 UBXN10 EXON Nonsense_R237X exm26780 1 20517867 [C/G] NM_152376 UBXN10 EXON Missense_I271M rs7542020 1 20520732 [T/C] NM_152376 UBXN10 EXON Silent rs3820320 1 20530208 [A/G] rs2213801 1 20544835 [A/G] rs2097532 1 20551745 [T/C] rs6701650 1 20560297 [A/G] rs4655165 1 20562389 [A/G] rs10916732 1 20570287 [T/G] NR_147205 LINC01757 Silent rs2157508 1 20572621 [T/C] rs7541616 1 20580487 [T/C] rs10916742 1 20588698 [T/C] rs763202 1 20592887 [T/C] rs10916749 1 20604959 [T/G] rs4422977 1 20613063 [T/G] rs16823800 1 20615227 [T/C] rs12738826 1 20617419 [T/C] NM_001039500 VWA5B1 EXON Silent rs10916754 1 20624063 [T/C] NM_001039500 VWA5B1 Silent rs4654849 1 20632407 [A/G] NM_001039500 VWA5B1 Silent rs12095205 1 20636232 [A/G] NM_001039500 VWA5B1 Silent rs10916761 1 20637374 [T/C] NM_001039500 VWA5B1 Silent exm26789 1 20639370 [A/G] NM_001039500 VWA5B1 EXON Missense_G61S exm26792 1 20639464 [A/G] NM_001039500 VWA5B1 EXON Missense_R92Q exm26794 1 20640830 [A/G] NM_001039500 VWA5B1 EXON Missense_D103G exm26797 1 20640926 [T/C] NM_001039500 VWA5B1 EXON Missense_I135T exm26801 1 20641002 [T/G] NM_001039500 VWA5B1 EXON Missense_R160S exm2232351 1 20641061 [A/G] NM_001039500 VWA5B1 EXON Missense_G180D exm26817 1 20645086 [T/A] NM_001039500 VWA5B1 EXON Missense_V238E exm26821 1 20645133 [T/C] NM_001039500 VWA5B1 EXON Missense_R254C variant.1425 1 20645874 [T/G] NM_001039500 VWA5B1 Silent variant.1426 1 20645925 [T/G] NM_001039500 VWA5B1 EXON Nonsense_E298X exm26837 1 20649979 [T/C] NM_001039500 VWA5B1 EXON Missense_I366T rs4590651 1 20652798 [T/G] NM_001039500 VWA5B1 Silent exm26842 1 20656718 [A/G] NM_001039500 VWA5B1 EXON Missense_D434N exm26845 1 20656824 [A/G] NM_001039500 VWA5B1 EXON Missense_N469S rs2072753 1 20657352 [T/C] NM_001039500 VWA5B1 Silent exm26854 1 20657421 [C/G] NM_001039500 VWA5B1 EXON Missense_S506C exm26855 1 20657429 [A/G] NM_001039500 VWA5B1 EXON Missense_E509K exm26856 1 20657463 [A/G] NM_001039500 VWA5B1 EXON Missense_R520Q exm26861 1 20659319 [A/G] NM_001039500 VWA5B1 EXON Missense_I545V exm26868 1 20662938 [A/G] NM_001039500 VWA5B1 EXON Missense_K634R exm26869 1 20662944 [A/C] NM_001039500 VWA5B1 EXON Missense_A636D exm26875 1 20664227 [A/C] NM_001039500 VWA5B1 EXON Missense_D677E exm2232355 1 20664303 [A/G] NM_001039500 VWA5B1 EXON Missense_V703I exm26880 1 20669084 [G/C] NM_001039500 VWA5B1 EXON Missense_R765G rs11582960 1 20671961 [A/G] NM_001039500 VWA5B1 EXON Missense_R880H exm26890 1 20671961 [A/G] NM_001039500 VWA5B1 EXON Missense_R880H variant.1429 1 20671998 [A/C] NM_001039500 VWA5B1 EXON Nonsense_C892X exm26893 1 20672051 [A/G] NM_001039500 VWA5B1 EXON Missense_R910Q exm26903 1 20677416 [T/C] NM_001039500 VWA5B1 EXON Missense_S1007F exm26910 1 20680289 [A/G] NM_001039500 VWA5B1 EXON Missense_E1061K exm26911 1 20680293 [G/C] NM_001039500 VWA5B1 EXON Missense_A1062G exm26925 1 20680718 [A/G] NM_001039500 VWA5B1 EXON Missense_E1204K rs2072751 1 20680718 [A/G] NM_001039500 VWA5B1 EXON Missense_E1204K rs1886740 1 20695831 [T/C] NR_033887 LINC01141 Silent rs10159448 1 20701277 [T/C] NR_033887 LINC01141 Silent rs10916779 1 20705117 [T/C] NR_033887 LINC01141 Silent exm2250514 1 20717763 [A/C] NR_033887 LINC01141 Silent rs879484 1 20729212 [T/C] NR_033887 LINC01141 Silent rs10753498 1 20733376 [T/C] NR_033887 LINC01141 Silent rs7533344 1 20735361 [A/G] NR_033887 LINC01141 Silent rs6426635 1 20735452 [A/G] NR_033887 LINC01141 Silent rs10916790 1 20736532 [T/C] NR_033887 LINC01141 Silent rs10799633 1 20740016 [A/C] NR_033887 LINC01141 Silent rs7537381 1 20750561 [A/G] NR_033887 LINC01141 Silent rs10753501 1 20758192 [A/C] rs7513147 1 20762133 [A/C] rs10799636 1 20770887 [T/C] rs618041 1 20792099 [T/C] rs12724366 1 20798620 [A/G] rs576436 1 20801589 [T/C] rs1152984 1 20814522 [A/G] rs11585967 1 20825894 [T/G] rs529974 1 20826910 [A/G] NM_024544 MUL1 EXON Silent exm26951 1 20827377 [A/G] NM_024544 MUL1 EXON Nonsense_R289X exm26973 1 20827784 [T/C] NM_024544 MUL1 EXON Missense_E153G exm26974 1 20827826 [A/G] NM_024544 MUL1 EXON Missense_V139A exm26976 1 20827848 [T/C] NM_024544 MUL1 EXON Missense_E132K variant.1435 1 20828562 [T/C] NM_024544 MUL1 EXON Nonsense_W110X exm1749190 1 20829733 [A/G] NM_024544 MUL1 EXON Missense_P64S exm26990 1 20829761 [A/C] NM_024544 MUL1 EXON Missense_I54M rs12566937 1 20832674 [T/G] NM_024544 MUL1 Silent exm26996 1 20834489 [T/C] NM_024544 MUL1 EXON Missense_C10Y rs7544348 1 20851834 [T/C] rs616145 1 20862106 [A/G] rs645496 1 20866735 [T/G] rs12072199 1 20877812 [T/C] exm2273622 1 20879548 [A/G] NM_207334 FAM43B EXON Missense_A28T rs1253890 1 20890149 [T/C] rs472055 1 20893965 [A/G] rs1890005 1 20899016 [T/C] rs1152991 1 20904743 [T/C] rs640880 1 20907051 [A/G] kgp25087902 1 20915507 [A/G] NM_001785 CDA EXON Silent kgp25241726 1 20915577 [A/G] NM_001785 CDA EXON Silent kgp5980907 1 20915590 [T/C] NM_001785 CDA EXON Silent exm27043 1 20915701 [A/C] NM_001785 CDA EXON Missense_K27Q rs818202 1 20916791 [A/G] NM_001785 CDA Silent rs471760 1 20917206 [A/G] NM_001785 CDA Silent rs818199 1 20924260 [A/G] NM_001785 CDA Silent rs818197 1 20924483 [A/C] NM_001785 CDA Silent rs4655226 1 20928284 [T/C] NM_001785 CDA Silent rs12022958 1 20928916 [T/G] NM_001785 CDA Silent kgp15680111 1 20931449 [A/G] NM_001785 CDA EXON Synonymous_P61P rs12036909 1 20933278 [T/C] NM_001785 CDA Silent rs527912 1 20934283 [A/G] NM_001785 CDA Silent rs558946 1 20935358 [A/C] NM_001785 CDA Silent variant.1440 1 20940392 [A/G] NM_001785 CDA EXON Synonymous_E108E rs3738130 1 20940463 [T/C] NM_001785 CDA Silent exm27060 1 20944963 [A/G] NM_001785 CDA EXON Missense_V115M exm27063 1 20945003 [T/C] NM_001785 CDA EXON Missense_T128M exm27064 1 20945036 [G/C] NM_001785 CDA EXON Missense_P139R kgp6410668 1 20945055 [T/C] NM_001785 CDA EXON Synonymous_T145T GA000375 1 20945251 [C/G] NM_001785 CDA EXON Silent GA018656 1 20945252 [C/G] NM_001785 CDA EXON Silent rs10916832 1 20945644 [T/C] rs6687370 1 20951359 [T/C] rs10799655 1 20957431 [T/C] exm27071 1 20960259 [T/C] NM_032409,NR_106732 PINK1,MIR6084 EXON Missense_S73L,Silent exm27075 1 20960385 [A/T] NM_032409 PINK1 EXON Missense_Q115L exm27087 1 20964505 [C/G] NM_032409 PINK1 EXON Missense_K186N exm27088 1 20964534 [T/C] NM_032409 PINK1 EXON Missense_P196L exm27091 1 20964573 [T/C] NM_032409 PINK1 EXON Missense_P209L exm27097 1 20966404 [T/C] NM_032409 PINK1 EXON Missense_A232V exm27099 1 20966454 [T/G] NM_032409 PINK1 EXON Missense_L249V rs3102071 1 20968011 [A/G] NM_032409 PINK1 Silent exm27102 1 20971041 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_R279C,Silent exm27104 1 20971057 [A/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_S284Y,Silent exm27106 1 20971063 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_P286L,Silent exm27115 1 20971158 [A/T] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_M318L,Silent exm27120 1 20972096 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_S335G,Silent exm27122 1 20972108 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_A339T,Silent exm27123 1 20972111 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_A340T,Silent exm27128 1 20972168 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_A359T,Silent exm2250526 1 20972170 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Synonymous_A359A,Silent exm27130 1 20972189 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_D366N,Silent exm27131 1 20975021 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_A383T,Silent exm27138 1 20975105 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_G411S,Silent exm27154 1 20975603 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_Q456R,Silent exm27155 1 20975618 [T/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_L461R,Silent exm27159 1 20975662 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_E476K,Silent exm27163 1 20975724 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Synonymous_K496K,Silent variant.1465 1 20976925 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Silent,Silent exm27164 1 20976940 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_R501Q,Silent variant.1466 1 20976973 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Nonsense_W512X,Silent indel.1467 1 20976995 [D/I] NM_032409,NR_046507 PINK1,PINK1-AS EXON exm27167 1 20977000 [A/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_N521T,Silent rs1043424 1 20977000 [A/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_N521T,Silent rs650616 1 20978058 [A/G] NR_046507 PINK1-AS EXON Silent exm2264808 1 20978058 [A/G] NR_046507 PINK1-AS EXON Silent exm27190 1 20979136 [A/G] NM_005216 DDOST EXON Missense_T400I exm1749330 1 20979148 [T/C] NM_005216 DDOST EXON Missense_R396Q exm1749372 1 20980169 [T/C] NM_005216 DDOST EXON Missense_R315Q exm27208 1 20980267 [T/C] NM_005216 DDOST EXON Synonymous_R282R exm27209 1 20980734 [A/G] NM_005216 DDOST EXON Missense_A276V exm27210 1 20980758 [A/G] NM_005216 DDOST EXON Missense_F268S exm27214 1 20980798 [T/C] NM_005216 DDOST EXON Missense_V255I exm27222 1 20981156 [A/G] NM_005216 DDOST EXON Missense_T216M exm27224 1 20981975 [A/G] NM_005216 DDOST EXON Missense_V187A exm27225 1 20981976 [T/C] NM_005216 DDOST EXON Missense_V187I rs623817 1 20986078 [A/G] NM_005216 DDOST Silent exm27248 1 20987762 [A/G] NM_005216 DDOST EXON Missense_P45S exm2250529 1 20987808 [C/G] NM_005216 DDOST EXON Synonymous_L29L exm27256 1 20987879 [A/C] NM_005216 DDOST EXON Missense_C6G rs3753834 1 20988911 [T/C] exm27277 1 20992819 [G/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_D833E,Missense_D932E,Missense_D933E exm27278 1 20992824 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_E832K,Missense_E931K,Missense_E932K rs617367 1 20993151 [T/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent exm27291 1 20998491 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_E788K,Missense_E888K,Missense_E888K exm27292 1 20998508 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R782H,Missense_R882H,Missense_R882H exm27293 1 20998509 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R782C,Missense_R882C,Missense_R882C exm27295 1 20998545 [T/A] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R770W,Missense_R870W,Missense_R870W exm27296 1 20998548 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R769C,Missense_R869C,Missense_R869C indel.1474 1 20998553 [I/D] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON exm2273623 1 20998568 [T/A] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_E762V,Missense_E862V,Missense_E862V exm27298 1 20998598 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R752H,Missense_R852H,Missense_R852H rs10916848 1 21002613 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent exm27306 1 21009189 [T/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_E707A,Missense_E807A,Missense_E807A exm27310 1 21009211 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_V700I,Missense_V800I,Missense_V800I exm27319 1 21009279 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R677H,Missense_R777H,Missense_R777H exm27321 1 21009294 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R672H,Missense_R772H,Missense_R772H exm27327 1 21011330 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_V635I,Missense_V735I,Missense_V735I exm27329 1 21011338 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_P632L,Missense_P732L,Missense_P732L exm27333 1 21011401 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_P611L,Missense_P711L,Missense_P711L exm27340 1 21011510 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_V575I,Missense_V675I,Missense_V675I exm27344 1 21012549 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_P570L,Missense_P670L,Missense_P670L exm27347 1 21012595 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_E555K,Missense_E655K,Missense_E655K exm27348 1 21012609 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_P550L,Missense_P650L,Missense_P650L exm27357 1 21013958 [A/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_A521S,Missense_A621S,Missense_A621S exm27362 1 21014017 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_P501L,Missense_P601L,Missense_P601L exm27363 1 21014027 [C/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_Q498E,Missense_Q598E,Missense_Q598E exm27372 1 21014075 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_G482R,Missense_G582R,Missense_G582R exm27381 1 21014202 [A/T] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_S439R,Missense_S539R,Missense_S539R exm27390 1 21014335 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_V395A,Missense_V495A,Missense_V495A exm27401 1 21016771 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R331W,Missense_R431W,Missense_R431W exm27405 1 21016815 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R316H,Missense_R416H,Missense_R416H rs628265 1 21018485 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs610719 1 21020128 [T/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs16824489 1 21022402 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs683936 1 21022653 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs16824496 1 21024460 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent exm27412 1 21024901 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_V302M,Missense_V402M,Missense_V402M exm27418 1 21030956 [T/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_S269R,Missense_S369R,Missense_S369R exm27424 1 21031042 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_I241V,Missense_I341V,Missense_I341V exm27436 1 21031125 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_S213L,Missense_S313L,Missense_S313L exm27439 1 21031152 [G/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_T204S,Missense_T304S,Missense_T304S exm27440 1 21031159 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_G202S,Missense_G302S,Missense_G302S exm2259945 1 21031983 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs752555 1 21032041 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent exm27463 1 21036276 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_M76V,Missense_M176V,Missense_M176V exm27464 1 21036291 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_V71M,Missense_V171M,Missense_V171M exm27473 1 21042018 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R16G,Missense_R116G,Missense_R116G exm27474 1 21042033 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R11G,Missense_R111G,Missense_R111G exm27476 1 21042050 [C/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_P5R,Missense_P105R,Missense_P105R exm27487 1 21043968 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Silent,Silent,Silent exm27489 1 21044007 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Silent,Missense_E65K,Missense_E65K exm27493 1 21044052 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Silent,Missense_K50E,Missense_K50E exm27495 1 21044070 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Silent,Missense_A44T,Missense_A44T rs659046 1 21047725 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Silent,Silent exm1751058 1 21048439 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_A373V,Missense_A289V exm27506 1 21048472 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_F362S,Missense_F278S exm27512 1 21049313 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R335H,Missense_R251H exm27513 1 21049317 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_V334M,Missense_V250M exm27520 1 21050155 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_L291P,Missense_L207P exm27535 1 21050677 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_T233M,Missense_T149M exm27537 1 21050719 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R219H,Missense_R135H exm27543 1 21050921 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R200W,Missense_R116W exm27548 1 21050969 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_G184S,Missense_G100S exm27552 1 21051058 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R154Q,Missense_R70Q exm27554 1 21051116 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_H135Y,Missense_H51Y exm27561 1 21052477 [C/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R109P,Missense_R25P exm1751106 1 21052532 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R91C,Missense_R7C exm27574 1 21054041 [A/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_V48G,Silent exm27580 1 21054480 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R20W,Silent exm1751193 1 21054485 [T/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_P18H,Silent rs710311 1 21062001 [T/C] rs12123092 1 21067001 [A/G] exm27586 1 21071402 [T/C] NM_016287 HP1BP3 EXON Missense_K517R exm27587 1 21071406 [T/G] NM_016287 HP1BP3 EXON Missense_I516L exm27595 1 21071549 [T/C] NM_016287 HP1BP3 EXON Missense_K468R rs2274119 1 21071967 [T/C] NM_016287 HP1BP3 Silent exm2250557 1 21072050 [A/C] NM_016287 HP1BP3 EXON Synonymous_P451P rs7552264 1 21087927 [A/G] NM_016287 HP1BP3 Silent rs1985278 1 21091861 [T/G] NM_016287 HP1BP3 Silent exm27638 1 21106855 [T/C] NM_016287 HP1BP3 EXON Missense_A27T rs3856173 1 21114833 [A/G] exm27655 1 21137376 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Synonymous_A1477A,Synonymous_A1483A,Synonymous_A1513A rs7520481 1 21140385 [T/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent rs935918 1 21145660 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent newrs141863024 1 21155638 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent exm27666 1 21155679 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_M1327T,Missense_M1333T,Missense_M1363T rs7553394 1 21167404 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Synonymous_L1280L,Synonymous_L1286L,Synonymous_L1316L newrs147925139 1 21177750 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent exm27682 1 21177755 [A/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_E1200D,Missense_E1206D,Missense_E1236D exm27684 1 21177800 [T/A] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_D1185E,Missense_D1191E,Missense_D1221E exm27686 1 21177892 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_G1155S,Missense_G1161S,Missense_G1191S exm27691 1 21180098 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_T1113M,Missense_T1119M,Missense_T1149M exm27694 1 21180162 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_R1092W,Missense_R1098W,Missense_R1128W rs2305463 1 21180181 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent exm27708 1 21191148 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_R887W,Missense_R893W,Missense_R923W exm27730 1 21226211 [A/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_V604F,Missense_V610F,Missense_V603F exm27733 1 21226375 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_S549N,Missense_S555N,Missense_S548N exm27735 1 21226402 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_V540A,Missense_V546A,Missense_V539A exm27743 1 21231453 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_I503V,Missense_I509V,Missense_I502V exm27744 1 21231460 [T/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_Q500H,Missense_Q506H,Missense_Q499H exm27747 1 21267993 [C/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_P496A,Missense_P502A,Missense_P495A,Missense_P507A exm27748 1 21268050 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_A477T,Missense_A483T,Missense_A476T,Missense_A488T exm27749 1 21268143 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_I446V,Missense_I452V,Missense_I445V,Missense_I457V exm27751 1 21268164 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_V439I,Missense_V445I,Missense_V438I,Missense_V450I exm27753 1 21268194 [G/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_P429A,Missense_P435A,Missense_P428A,Missense_P440A exm27764 1 21268346 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_Q378R,Missense_Q384R,Missense_Q377R,Missense_Q389R exm27767 1 21268421 [A/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_T353I,Missense_T359I,Missense_T352I,Missense_T364I exm1758770 1 21268475 [T/A] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_I335K,Missense_I341K,Missense_I334K,Missense_I346K exm27774 1 21268644 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_I279V,Missense_I285V,Missense_I278V,Missense_I290V exm27777 1 21268710 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_V257I,Missense_V263I,Missense_V256I,Missense_V268I rs12021529 1 21306161 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent exm27790 1 21306835 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_N106S,Missense_N113S,Missense_N106S,Missense_N117S exm27792 1 21306857 [A/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_P99S,Missense_P106S,Missense_P99S,Missense_P110S exm27794 1 21306889 [T/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_Q88P,Missense_Q95P,Missense_Q88P,Missense_Q99P exm27797 1 21306910 [T/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_P81H,Missense_P88H,Missense_P81H,Missense_P92H rs1110240 1 21324933 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs2174689 1 21329128 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs12130664 1 21332812 [T/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs4654732 1 21337313 [T/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs6681064 1 21339644 [A/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs12078306 1 21339727 [A/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs6689852 1 21341051 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent kgp5318568 1 21351885 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent kgp9119075 1 21441998 [T/C] NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent kgp10979704 1 21442736 [T/C] NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent rs1609558 1 21525228 [T/C] rs3026913 1 21544601 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Silent,Silent,Silent,Silent exm27815 1 21546459 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_E765K,Missense_E752K,Missense_E768K,Missense_E756K exm27820 1 21546612 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_V714I,Missense_V701I,Missense_V717I,Missense_V705I rs2038089 1 21551457 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent exm27825 1 21551745 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_R677W,Missense_R664W,Missense_R680W,Missense_R668W exm2250731 1 21551809 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Synonymous_P655P,Synonymous_P642P,Synonymous_P658P,Synonymous_P646P exm27831 1 21551823 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_V651M,Missense_V638M,Missense_V654M,Missense_V642M exm27836 1 21551904 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_R624W,Missense_R611W,Missense_R627W,Missense_R615W variant.1492 1 21553647 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent rs9426666 1 21556887 [T/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent exm27850 1 21560060 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_N551S,Missense_N538S,Missense_N554S,Missense_N542S exm27858 1 21562343 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Synonymous_D519D,Synonymous_D506D,Synonymous_D522D,Synonymous_D510D exm27859 1 21562354 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_V516M,Missense_V503M,Missense_V519M,Missense_V507M exm27867 1 21564631 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_S459N,Missense_S446N,Missense_S462N,Missense_S450N exm27870 1 21571570 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_N394S,Missense_N381S,Missense_N397S,Missense_N385S rs12562197 1 21571601 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent exm27879 1 21573802 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_V356M,Missense_V343M,Missense_V359M,Missense_V347M exm27881 1 21573817 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_T351A,Missense_T338A,Missense_T354A,Missense_T342A exm27882 1 21573855 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_T338I,Missense_T325I,Missense_T341I,Missense_T329I rs212516 1 21575456 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent exm27891 1 21582583 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_G290S,Missense_G277S,Missense_G293S,Missense_G281S rs212524 1 21583311 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent exm27906 1 21586808 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_I188V,Missense_I175V,Missense_I191V,Missense_I179V exm27911 1 21586862 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_E170K,Missense_E157K,Missense_E173K,Missense_E161K rs2282714 1 21587849 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent exm27920 1 21599272 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_P135L,Missense_P122L,Missense_P138L,Missense_P126L exm27926 1 21605750 [A/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_L69V,Missense_L56V,Missense_L72V,Missense_L60V rs213051 1 21621536 [T/G] NM_001113348,NR_038404 ECE1,LOC100506801 Silent,Silent rs10916958 1 21625145 [T/C] NM_001113348,NR_038404 ECE1,LOC100506801 EXON Silent,Silent exm2263817 1 21629447 [A/C] NM_001113348 ECE1 Silent rs2051031 1 21631472 [T/C] NM_001113348 ECE1 Silent rs84853 1 21641522 [T/C] NM_001113348 ECE1 Silent rs3026831 1 21644469 [A/G] NM_001113348 ECE1 Silent rs213032 1 21654735 [T/C] NM_001113348 ECE1 Silent rs11805268 1 21668873 [A/G] NM_001113348 ECE1 Silent rs2745251 1 21674005 [T/C] rs10916967 1 21682361 [A/G] rs16825276 1 21685445 [T/C] rs2796354 1 21687854 [A/G] rs785198 1 21697469 [T/C] rs7530779 1 21709489 [A/G] rs10916972 1 21711731 [A/G] rs12563141 1 21723308 [T/C] rs12124123 1 21725824 [A/G] rs10916982 1 21742614 [T/C] variant.1499 1 21771685 [T/C] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Nonsense_R36X,Nonsense_R36X,Nonsense_R36X,Silent rs4654938 1 21785981 [T/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent exm-rs4654748 1 21786068 [T/C] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent indel.1502 1 21795275 [D/I] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON exm27955 1 21795375 [T/C] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_R110W,Missense_R110W,Silent,Missense_R54W exm27957 1 21795388 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_Y114C,Missense_Y114C,Silent,Missense_Y58C rs1827293 1 21795388 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_Y114C,Missense_Y114C,Silent,Missense_Y58C rs7537914 1 21796616 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent exm27961 1 21797204 [C/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_E141D,Missense_E141D,Missense_E71D,Missense_E85D exm27963 1 21797221 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_E147G,Missense_E147G,Missense_E77G,Missense_E91G newrs11584459 1 21799413 [T/C] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent exm27993 1 21799979 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_G281R,Missense_G281R,Missense_G211R,Missense_G225R indel.1508 1 21800057 [D/I] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON variant.1509 1 21800078 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_E314K,Missense_E314K,Missense_E244K,Missense_E258K exm28004 1 21801440 [C/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_P330A,Missense_P330A,Missense_P260A,Missense_P274A exm28008 1 21801444 [T/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_R331I,Missense_R331M,Missense_R261M,Missense_R275M rs7518950 1 21804457 [T/C] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent rs4654947 1 21805048 [T/C] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent indel.1510 1 21805862 [I/D] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON rs2316851 1 21815174 [A/G] rs904927 1 21815660 [T/C] rs10799701 1 21820990 [A/G] rs1780324 1 21821757 [A/G] exm-rs1780324 1 21821757 [A/G] exm-rs1697421 1 21823292 [T/C] rs16825455 1 21837755 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs869179 1 21840129 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs12116444 1 21842892 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs1256323 1 21851312 [T/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs10917006 1 21864206 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs12565845 1 21866625 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs12127343 1 21869773 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs885814 1 21875916 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs885813 1 21877074 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs3767155 1 21885195 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent newrs143358506 1 21887167 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Silent,Missense_L37P,Silent exm28108 1 21887629 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_K19R,Missense_K74R,Silent exm28122 1 21889718 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R83Q,Missense_R138Q,Missense_R61Q exm28124 1 21889741 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_E91K,Missense_E146K,Missense_E69K exm28126 1 21889759 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R97C,Missense_R152C,Missense_R75C exm28129 1 21890590 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_A122T,Missense_A177T,Missense_A100T exm28131 1 21890632 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_E136K,Missense_E191K,Missense_E114K exm28137 1 21890709 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Synonymous_D161D,Synonymous_D216D,Synonymous_D139D variant.1520 1 21890710 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs3767150 1 21894214 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent indel.1522 1 21894605 [D/I] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON exm28140 1 21894682 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_T190M,Missense_T245M,Missense_T168M exm28144 1 21894735 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_Y208H,Missense_Y263H,Missense_Y186H rs1256328 1 21896767 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent exm28147 1 21896819 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R217C,Missense_R272C,Missense_R195C exm28148 1 21896823 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_T218M,Missense_T273M,Missense_T196M exm28158 1 21900176 [A/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_D239A,Missense_D294A,Missense_D217A exm28184 1 21903947 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_V406I,Missense_V461I,Missense_V384I rs1256279 1 21914362 [T/C] rs829391 1 21921058 [A/G] rs7515386 1 21921736 [A/G] exm28202 1 21924217 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_C655Y,Missense_C681Y,Missense_C748Y,Missense_C727Y,Missense_C663Y,Missense_C740Y,Missense_C689Y,Missense_C663Y,Missense_C689Y exm28209 1 21924509 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A635V,Missense_A661V,Missense_A728V,Missense_A707V,Missense_A643V,Missense_A720V,Missense_A669V,Missense_A643V,Missense_A669V exm28213 1 21924530 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A628V,Missense_A654V,Missense_A721V,Missense_A700V,Missense_A636V,Missense_A713V,Missense_A662V,Missense_A636V,Missense_A662V exm28214 1 21924531 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A628T,Missense_A654T,Missense_A721T,Missense_A700T,Missense_A636T,Missense_A713T,Missense_A662T,Missense_A636T,Missense_A662T exm28215 1 21924545 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Silent,Silent,Missense_S716L,Missense_S695L,Missense_S631L,Silent,Missense_S657L,Missense_S631L,Missense_S657L exm28218 1 21924946 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_Y609C,Missense_Y635C,Missense_Y694C,Missense_Y673C,Missense_Y609C,Missense_Y694C,Missense_Y635C,Missense_Y609C,Missense_Y635C exm28220 1 21924961 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_R604Q,Missense_R630Q,Missense_R689Q,Missense_R668Q,Missense_R604Q,Missense_R689Q,Missense_R630Q,Missense_R604Q,Missense_R630Q rs10917023 1 21925603 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm28225 1 21926031 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_V578M,Missense_V604M,Missense_V663M,Missense_V642M,Missense_V578M,Missense_V663M,Missense_V604M,Missense_V578M,Missense_V604M exm28227 1 21926063 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_R567H,Missense_R593H,Missense_R652H,Missense_R631H,Missense_R567H,Missense_R652H,Missense_R593H,Missense_R567H,Missense_R593H exm28232 1 21926097 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A556T,Missense_A582T,Missense_A641T,Missense_A620T,Missense_A556T,Missense_A641T,Missense_A582T,Missense_A556T,Missense_A582T exm28233 1 21926100 [A/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A555S,Missense_A581S,Missense_A640S,Missense_A619S,Missense_A555S,Missense_A640S,Missense_A581S,Missense_A555S,Missense_A581S exm28267 1 21932618 [T/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_T457P,Missense_T457P,Missense_T457P,Missense_T521P,Missense_T457P,Missense_T457P,Missense_T457P,Missense_T457P,Missense_T457P exm28277 1 21934818 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_E395G,Missense_E395G,Missense_E395G,Missense_E459G,Missense_E395G,Missense_E395G,Missense_E395G,Missense_E395G,Missense_E395G exm28301 1 21938009 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_R260H,Missense_R260H,Missense_R260H,Missense_R324H,Missense_R260H,Missense_R260H,Missense_R260H,Missense_R260H,Missense_R260H var_1_21938209 1 21938209 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_G238E,Missense_G238E,Missense_G238E,Missense_G302E,Missense_G238E,Missense_G238E,Missense_G238E,Missense_G238E,Missense_G238E exm28306 1 21938261 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_V221M,Missense_V221M,Missense_V221M,Missense_V285M,Missense_V221M,Missense_V221M,Missense_V221M,Missense_V221M,Missense_V221M variant.1540 1 21938304 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Synonymous_S206S,Synonymous_S206S,Synonymous_S206S,Synonymous_S270S,Synonymous_S206S,Synonymous_S206S,Synonymous_S206S,Synonymous_S206S,Synonymous_S206S exm28316 1 21938562 [G/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_S190T,Missense_S190T,Missense_S190T,Missense_S254T,Missense_S190T,Missense_S190T,Missense_S190T,Missense_S190T,Missense_S190T exm28317 1 21938584 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_T183A,Missense_T183A,Missense_T183A,Missense_T247A,Missense_T183A,Missense_T183A,Missense_T183A,Missense_T183A,Missense_T183A rs2275363 1 21940555 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A107T,Missense_A107T,Missense_A107T,Missense_A171T,Missense_A107T,Missense_A107T,Missense_A107T,Missense_A107T,Missense_A107T exm28334 1 21940555 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A107T,Missense_A107T,Missense_A107T,Missense_A171T,Missense_A107T,Missense_A107T,Missense_A107T,Missense_A107T,Missense_A107T exm28337 1 21943804 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_G96S,Missense_G96S,Missense_G96S,Missense_G160S,Missense_G96S,Missense_G96S,Missense_G96S,Missense_G96S,Missense_G96S var_1_21946503 1 21946503 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs829406 1 21949462 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7354914 1 21953287 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs829412 1 21953436 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11591167 1 21958536 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12142081 1 21966833 [T/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6426721 1 21972480 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2128699 1 21974208 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm28371 1 21976289 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Silent,Silent,Silent,Synonymous_G15G,Silent,Silent,Silent,Silent,Silent rs829404 1 21983611 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs829373 1 21988563 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3738091 1 21997282 [A/G] rs3818942 1 22000026 [A/G] rs12404648 1 22008798 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs10493008 1 22013771 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs3767133 1 22020152 [T/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent exm28409 1 22028029 [A/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_A896S,Missense_A895S,Missense_A830S,Missense_A896S,Missense_A897S,Missense_A897S variant.1547 1 22030755 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_K838E,Missense_K837E,Missense_K772E,Missense_K838E,Missense_K839E,Missense_K839E exm28422 1 22030875 [A/T] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_I798L,Missense_I797L,Missense_I732L,Missense_I798L,Missense_I799L,Missense_I799L exm28423 1 22030884 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_I795V,Missense_I794V,Missense_I729V,Missense_I795V,Missense_I796V,Missense_I796V rs333171 1 22033705 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs333188 1 22040294 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent exm28443 1 22041883 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 EXON Synonymous_H653H,Synonymous_H652H,Synonymous_H587H,Synonymous_H653H,Synonymous_H654H,Synonymous_H654H rs10799708 1 22046558 [A/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent exm28448 1 22047655 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_D589N,Missense_D588N,Missense_D523N,Missense_D589N,Missense_D590N,Missense_D590N rs12030578 1 22048664 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs6426724 1 22049667 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent exm1762696 1 22050463 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_I526V,Missense_I525V,Silent,Missense_I525V,Missense_I526V,Missense_I526V exm28452 1 22050466 [T/A] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_S525T,Missense_S524T,Silent,Missense_S524T,Missense_S525T,Missense_S525T exm28459 1 22055176 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_K446R,Missense_K445R,Missense_K445R,Missense_K445R,Missense_K446R,Missense_K446R,Missense_K446R exm28465 1 22056281 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_G406R,Missense_G405R,Missense_G405R,Missense_G405R,Missense_G406R,Missense_G406R,Missense_G406R variant.1549 1 22074689 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 EXON Nonsense_R284X,Nonsense_R284X,Nonsense_R284X,Nonsense_R284X,Nonsense_R284X,Nonsense_R284X,Nonsense_R284X rs2315931 1 22076705 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm28476 1 22078023 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_D251N,Missense_D251N,Missense_D251N,Missense_D251N,Missense_D251N,Missense_D251N,Missense_D251N exm28477 1 22078103 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_N224S,Missense_N224S,Missense_N224S,Missense_N224S,Missense_N224S,Missense_N224S,Missense_N224S exm28485 1 22083068 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_M128T,Missense_M128T,Missense_M128T,Missense_M128T,Missense_M128T,Missense_M128T,Missense_M128T rs10733030 1 22104971 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7518006 1 22127992 [A/G] exm28500 1 22140931 [A/C] NM_001013693 LDLRAD2 EXON Missense_D42E exm28511 1 22141206 [A/C] NM_001013693 LDLRAD2 EXON Missense_N134T exm2273624 1 22141269 [T/G] NM_001013693 LDLRAD2 EXON Missense_R155L rs2010397 1 22141983 [T/C] NM_001013693 LDLRAD2 Silent exm28515 1 22142456 [T/C] NM_001013693 LDLRAD2 EXON Missense_R178C exm28520 1 22142525 [A/G] NM_001013693 LDLRAD2 EXON Missense_D201N variant.1553 1 22147942 [T/G] NM_001013693 LDLRAD2 Silent exm28535 1 22149897 [A/G] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_S4363L,Missense_S4364L exm28537 1 22149952 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_G4345R,Missense_G4346R exm28539 1 22149967 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_V4340M,Missense_V4341M exm28543 1 22150118 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_V4332I,Missense_V4333I exm28545 1 22150120 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_S4331N,Missense_S4332N exm28546 1 22150130 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_A4328T,Missense_A4329T exm28552 1 22150183 [T/G] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_D4310A,Missense_D4311A exm28556 1 22150627 [C/G] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_V4296L,Missense_V4297L exm28557 1 22150639 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_E4292K,Missense_E4293K exm28558 1 22150671 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_R4281H,Missense_R4282H exm2250773 1 22150813 [A/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Synonymous_G4267G,Synonymous_G4268G exm28574 1 22154365 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G4194R,Missense_G4195R exm28590 1 22154900 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R4086Q,Missense_R4087Q exm28591 1 22154901 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R4086W,Missense_R4087W exm28593 1 22155345 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R4074C,Missense_R4075C exm28595 1 22155353 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A4071V,Missense_A4072V exm28596 1 22155455 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R4037L,Missense_R4038L exm28609 1 22155886 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E3994D,Missense_E3995D exm2275432 1 22156005 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3955L,Missense_V3956L exm28622 1 22156020 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E3950K,Missense_E3951K exm28624 1 22156041 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A3943T,Missense_A3944T exm28634 1 22156531 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T3909P,Missense_T3910P exm2250776 1 22157578 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Synonymous_G3856G,Synonymous_G3857G exm28651 1 22157724 [G/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3849P,Missense_R3850P exm28652 1 22157754 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A3839V,Missense_A3840V exm28655 1 22157788 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E3828K,Missense_E3829K exm28659 1 22157809 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3821W,Missense_R3822W exm28669 1 22158203 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_S3765N,Missense_S3766N exm28673 1 22158219 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3760M,Missense_V3761M exm2250777 1 22159008 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Synonymous_V3729V,Synonymous_V3730V exm2232532 1 22159778 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3693Q,Missense_R3694Q exm28692 1 22159779 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3693W,Missense_R3694W exm28693 1 22159784 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T3691I,Missense_T3692I exm28701 1 22160001 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3646H,Missense_R3647H exm1763213 1 22160011 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A3643T,Missense_A3644T exm28704 1 22160020 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3640I,Missense_V3641I exm28706 1 22160043 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3632Q,Missense_R3633Q rs2229493 1 22160043 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3632Q,Missense_R3633Q rs7547731 1 22160148 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent indel.1559 1 22160419 [I/D] NM_005529,NM_001291860 HSPG2,HSPG2 exm28720 1 22161190 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3568I,Missense_V3569I exm28728 1 22161283 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G3537R,Missense_G3538R exm28732 1 22161367 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E3509K,Missense_E3510K exm28735 1 22161394 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3500M,Missense_V3501M exm28737 1 22161432 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_P3487H,Missense_P3488H exm28745 1 22163370 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3427Q,Missense_R3428Q exm28750 1 22163436 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T3405M,Missense_T3406M exm1763262 1 22163446 [C/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3402L,Missense_V3403L exm2277027 1 22163446 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3402M,Missense_V3403M exm28761 1 22165372 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3366W,Missense_R3367W exm28772 1 22165528 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E3314K,Missense_E3315K exm28779 1 22165894 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A3287T,Missense_A3288T exm28783 1 22165983 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3257Q,Missense_R3258Q exm28784 1 22165987 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_H3256Y,Missense_H3257Y exm28787 1 22166034 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A3240V,Missense_A3241V exm28796 1 22166460 [C/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_Q3188H,Missense_Q3189H exm28800 1 22167605 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A3168T,Missense_A3169T exm28801 1 22167631 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3159Q,Missense_R3160Q exm28802 1 22167695 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G3138R,Missense_G3139R exm28808 1 22168033 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Synonymous_H3109H,Synonymous_H3110H exm28816 1 22168125 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3079M,Missense_V3080M exm28827 1 22168801 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_S2995G,Missense_S2996G exm28831 1 22168843 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V2981I,Missense_V2982I exm28832 1 22168845 [A/T] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_L2980H,Missense_L2981H exm28835 1 22169273 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A2967V,Missense_A2968V exm28836 1 22169274 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A2967T,Missense_A2968T exm28840 1 22169325 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G2950R,Missense_G2951R exm28854 1 22170648 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2870Q,Missense_R2871Q exm28855 1 22170652 [G/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A2869P,Missense_A2870P exm28857 1 22170681 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T2859M,Missense_T2860M exm28862 1 22170712 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V2849L,Missense_V2850L exm28873 1 22172684 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2794Q,Missense_R2795Q exm28880 1 22172735 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2777Q,Missense_R2778Q exm28894 1 22173855 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_S2719N,Missense_S2720N exm1763355 1 22173966 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2682Q,Missense_R2683Q exm28905 1 22173967 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2682W,Missense_R2683W exm28911 1 22174253 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V2652M,Missense_V2653M exm28921 1 22174457 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_S2623P,Missense_S2624P exm28924 1 22174498 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2609Q,Missense_R2610Q exm28929 1 22174549 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_P2592L,Missense_P2593L rs3767138 1 22174600 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent exm28932 1 22175151 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_L2574F,Missense_L2575F exm28935 1 22175439 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T2511I,Missense_T2512I exm28936 1 22175460 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2504H,Missense_R2505H exm28944 1 22176536 [C/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_Q2482E,Missense_Q2483E exm2273625 1 22176542 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2480W,Missense_R2481W exm28953 1 22176643 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_S2446L,Missense_S2447L exm28959 1 22176684 [A/T] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Synonymous_A2432A,Synonymous_A2433A rs2290500 1 22176831 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent exm28966 1 22176915 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_S2412N,Missense_S2413N exm29001 1 22179244 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G2225S,Missense_G2226S exm29032 1 22180830 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G2099S,Missense_G2100S exm29047 1 22181258 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A2045V,Missense_A2046V exm29071 1 22181895 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V1967I,Missense_V1968I exm29075 1 22182055 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A1939T,Missense_A1940T exm29077 1 22182093 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T1926M,Missense_T1927M exm29080 1 22182124 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G1916S,Missense_G1917S exm29088 1 22182333 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A1883V,Missense_A1884V exm29112 1 22183822 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1784C,Missense_R1785C exm29114 1 22183837 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1779W,Missense_R1780W exm29115 1 22183875 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A1766V,Missense_A1767V exm29117 1 22186113 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T1747P,Missense_T1748P exm29120 1 22186146 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V1736I,Missense_V1737I exm29122 1 22186161 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_L1731F,Missense_L1732F exm29125 1 22186385 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_Y1709H,Missense_Y1710H exm29134 1 22186712 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V1658M,Missense_V1659M exm29138 1 22188289 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T1639M,Missense_T1640M exm29139 1 22188295 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1637H,Missense_R1638H exm29140 1 22188296 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1637C,Missense_R1638C exm29144 1 22188328 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1626H,Missense_R1627H exm29155 1 22190679 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G1552R,Missense_G1553R exm29160 1 22191361 [C/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_P1534R,Missense_P1535R exm29165 1 22191394 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1523H,Missense_R1524H exm29170 1 22191454 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A1503V,Missense_A1504V exm29174 1 22191481 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1494Q,Missense_R1495Q exm2232538 1 22198729 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G1391S,Missense_G1392S exm29189 1 22198768 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E1378K,Missense_E1379K exm29192 1 22198822 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_N1360D,Missense_N1361D exm29195 1 22199175 [C/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_L1323V,Missense_L1324V exm2232539 1 22199498 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_Q1294K,Missense_Q1295K exm29205 1 22199521 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_Q1286R,Missense_Q1287R exm29206 1 22199531 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V1283I,Missense_V1284I exm29215 1 22200454 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A1236E,Missense_A1237E exm29220 1 22200998 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1186Q,Missense_R1187Q exm29240 1 22202144 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A1094T,Missense_A1095T exm29242 1 22202155 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1090Q,Missense_R1091Q exm29252 1 22202483 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_P1019L,Missense_P1020L exm29276 1 22203106 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G909S,Missense_G910S exm29283 1 22204731 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R878H,Missense_R879H exm29292 1 22204947 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G866S,Missense_G867S exm2232540 1 22204974 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G857R,Missense_G858R exm29294 1 22205079 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R850H,Missense_R851H exm29301 1 22205523 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R812Q,Missense_R813Q exm29306 1 22205601 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_N786S,Missense_N787S exm29307 1 22206608 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_H779Y,Missense_H780Y exm29308 1 22206617 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V776M,Missense_V777M exm29312 1 22206649 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_N765S,Missense_N766S exm29322 1 22206977 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V692M,Missense_V693M exm29324 1 22207013 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A680T,Missense_A681T exm29325 1 22207027 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R675Q,Missense_R676Q exm29330 1 22207188 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_Q653H,Missense_Q654H exm29334 1 22207235 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_M638V,Missense_M639V exm29344 1 22207318 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_Y610C,Missense_Y611C exm29369 1 22211150 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_H509Y,Missense_H510Y exm29389 1 22211623 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R413Q,Missense_R413Q exm29405 1 22211941 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T361N,Missense_T361N exm29412 1 22213821 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_P322L,Missense_P322L exm29417 1 22213940 [C/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E311Q,Missense_E311Q exm29419 1 22213993 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R293H,Missense_R293H exm29428 1 22214082 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_M263I,Missense_M263I exm29429 1 22214101 [C/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R257P,Missense_R257P exm29435 1 22214436 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_N233S,Missense_N233S exm29441 1 22214535 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T200M,Missense_T200M exm29442 1 22214536 [T/A] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T200S,Missense_T200S rs2254358 1 22216574 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Synonymous_G158G,Synonymous_G158G exm29469 1 22217095 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E113K,Missense_E113K exm29479 1 22222455 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_D68E,Missense_D68E exm29481 1 22222718 [A/T] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_H50L,Missense_H50L rs11810496 1 22224102 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs16826031 1 22231446 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs1545593 1 22233670 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent exm2260014 1 22252262 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs9426790 1 22252790 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs7544500 1 22271839 [T/C] rs7531732 1 22275696 [A/G] rs10917074 1 22281759 [A/G] rs11589754 1 22284495 [T/G] rs10917079 1 22296307 [A/C] exm1763880 1 22304879 [T/C] NM_007352 CELA3B EXON Missense_P21S exm29496 1 22304889 [A/G] NM_007352 CELA3B EXON Missense_R24H exm29516 1 22307538 [T/C] NM_007352 CELA3B EXON Missense_R79W exm29521 1 22307582 [T/G] NM_007352 CELA3B EXON Missense_K93N rs7553024 1 22308178 [A/G] NM_007352 CELA3B Silent rs12049408 1 22308704 [A/G] NM_007352 CELA3B Silent rs10799723 1 22310080 [A/G] NM_007352 CELA3B Silent exm29555 1 22310711 [G/C] NM_007352 CELA3B EXON Missense_E177Q exm29579 1 22313075 [G/C] NM_007352 CELA3B EXON Missense_V232L rs12405048 1 22321550 [A/G] exm2250790 1 22332005 [T/C] NM_005747 CELA3A EXON Synonymous_P65P exm29630 1 22332196 [T/G] NM_005747 CELA3A EXON Missense_L90R exm29662 1 22333884 [A/C] NM_005747 CELA3A EXON Missense_D173A exm29682 1 22336244 [A/G] NM_005747 CELA3A EXON Nonsense_W230X exm2232570 1 22336295 [T/C] NM_005747 CELA3A EXON Missense_I247T rs9187 1 22336305 [T/C] NM_005747 CELA3A EXON Synonymous_P250P rs3117048 1 22345093 [A/G] rs2473295 1 22354866 [T/C] NR_023918,NR_109762,NR_109759,NR_023919,NR_109760,NR_109761 LINC00339,LINC00339,LINC00339,LINC00339,LINC00339,LINC00339 Silent,Silent,Silent,Silent,Silent,Silent rs2473277 1 22361845 [A/G] exm2268660 1 22368342 [T/C] rs2501276 1 22373624 [T/C] rs2473323 1 22389327 [T/G] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 Silent,Silent,Silent rs11800014 1 22414070 [T/C] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 Silent,Silent,Silent rs1534949 1 22426187 [A/C] rs10489437 1 22432587 [T/C] rs4654783 1 22439520 [T/C] exm29720 1 22446566 [C/G] NM_030761 WNT4 EXON Missense_V345L exm29738 1 22446856 [T/C] NM_030761 WNT4 EXON Missense_R248H exm29741 1 22446860 [A/G] NM_030761 WNT4 EXON Missense_R247C exm29743 1 22446902 [T/C] NM_030761 WNT4 EXON Missense_A233T exm29754 1 22447940 [T/C] NM_030761 WNT4 EXON Missense_Q148R rs2235529 1 22450487 [T/C] NM_030761 WNT4 Silent rs7526484 1 22451845 [T/C] NM_030761 WNT4 Silent rs7544210 1 22455142 [A/G] NM_030761 WNT4 Silent exm29771 1 22456184 [A/G] NM_030761 WNT4 EXON Missense_Y80H rs7542242 1 22477493 [T/C] exm-rs16826658 1 22485871 [T/G] rs16826659 1 22486501 [A/C] exm-rs7521902 1 22490724 [A/C] rs17360017 1 22495215 [A/G] rs10917165 1 22501628 [T/C] rs742356 1 22501846 [A/G] rs2744708 1 22506851 [A/G] rs2744712 1 22509251 [A/G] rs12734979 1 22522927 [T/C] rs732376 1 22530214 [T/C] rs2807348 1 22533106 [A/G] exm2250809 1 22537071 [T/C] rs2473250 1 22537649 [A/G] rs2505722 1 22542445 [T/G] rs2744734 1 22549729 [T/C] rs2505711 1 22551925 [A/G] rs12749135 1 22553478 [T/G] rs2491210 1 22555993 [T/G] rs932371 1 22569226 [T/C] rs10489160 1 22573259 [A/G] rs909814 1 22573942 [T/C] rs2744750 1 22574426 [A/G] rs2807338 1 22577425 [T/C] rs3845519 1 22585236 [A/G] rs4654790 1 22588355 [A/G] rs2143100 1 22599878 [T/C] rs12406679 1 22602254 [A/G] rs760915 1 22603552 [A/G] rs12737805 1 22612690 [A/G] rs10799746 1 22625246 [A/C] rs6426746 1 22629057 [A/G] rs6690148 1 22648411 [T/C] rs12137132 1 22653884 [T/C] rs4655044 1 22659375 [T/C] rs10917219 1 22674370 [T/C] rs12742784 1 22682366 [T/C] rs4655052 1 22688484 [A/G] rs6682619 1 22690923 [T/G] exm-rs7524102 1 22698447 [A/G] rs6696981 1 22702858 [T/G] exm-rs6696981 1 22702858 [T/G] rs6684375 1 22706434 [T/C] exm-rs6426749 1 22711473 [G/C] rs6704135 1 22718261 [T/C] rs6426752 1 22718991 [A/G] rs6667212 1 22722694 [A/G] rs2185341 1 22725825 [T/C] rs7543680 1 22731269 [A/G] rs4655059 1 22735906 [A/C] rs12145722 1 22742985 [T/C] rs4515757 1 22744686 [T/C] rs7530165 1 22760325 [A/G] rs1890775 1 22774266 [T/C] exm-rs10917234 1 22782602 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent rs10493014 1 22787711 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent rs4369203 1 22795459 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent variant.1593 1 22816505 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Nonsense_Q22X,Nonsense_Q22X,Nonsense_Q22X exm29787 1 22816686 [T/A] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_K82I,Missense_K82I,Missense_K82I exm2250834 1 22817098 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Synonymous_V219V,Synonymous_V219V,Synonymous_V219V exm29802 1 22817114 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_A225T,Missense_A225T,Missense_A225T exm29806 1 22817961 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_M256V,Missense_M256V,Missense_M256V exm29808 1 22817996 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_M267I,Missense_M267I,Missense_M267I exm29809 1 22827991 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Silent,Missense_V280M,Missense_V280M exm29818 1 22828154 [T/A] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Silent,Missense_D334V,Missense_D334V exm29833 1 22834601 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_M378V,Missense_M490V,Missense_M490V indel.1595 1 22834628 [D/I] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON exm29842 1 22835642 [G/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_Q471H,Missense_Q583H,Missense_Q583H exm29843 1 22835677 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_Y483C,Missense_Y595C,Missense_Y595C exm29860 1 22838442 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_R647Q,Missense_R759Q,Missense_R759Q exm29861 1 22838453 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_S651G,Missense_S763G,Missense_S763G exm1766005 1 22838519 [C/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_Q673E,Missense_Q785E,Missense_Q785E exm1766006 1 22838538 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_A679V,Missense_A791V,Missense_A791V variant.1598 1 22838632 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent exm29867 1 22839498 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_N736S,Missense_N848S,Missense_N848S exm29881 1 22846655 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_P867S,Missense_P979S,Missense_P979S exm2232678 1 22846659 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_C868Y,Missense_C980Y,Missense_C980Y exm29885 1 22846709 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_V885M,Missense_V997M,Missense_V997M exm29914 1 22852880 [C/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_E1125D,Missense_E1237D,Missense_E1237D rs12137696 1 22855441 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Silent,Silent,Silent rs12756490 1 22863680 [T/C] rs766910 1 22872687 [A/C] exm29921 1 22895820 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_G45S,Missense_G45S rs209741 1 22899011 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 Silent,Silent exm2232712 1 22902710 [T/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_W54G,Missense_W54G exm2232713 1 22903034 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_R162W,Missense_R162W exm29948 1 22903176 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_R209H,Missense_R209H exm29956 1 22903356 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_R269Q,Missense_R269Q rs649754 1 22906247 [A/C] NM_020526,NM_001006943 EPHA8,EPHA8 Silent,Silent exm29963 1 22913051 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_A301V,Missense_A301V exm29964 1 22913111 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_P321L,Missense_P321L exm29974 1 22915508 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_R375H,Missense_R375H exm29980 1 22915678 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_N432D,Missense_N432D exm29984 1 22915721 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Silent,Missense_P446L exm29987 1 22915753 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Silent,Missense_S457P exm29990 1 22915816 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Silent,Missense_L478F exm29993 1 22915858 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Silent,Missense_L492F exm30009 1 22920141 [A/G] NM_020526 EPHA8 EXON Missense_R522H exm30010 1 22920150 [A/G] NM_020526 EPHA8 EXON Missense_Q525R rs209694 1 22921503 [T/C] NM_020526 EPHA8 Silent exm30017 1 22921729 [A/G] NM_020526 EPHA8 EXON Missense_R537H exm30020 1 22921794 [T/C] NM_020526 EPHA8 EXON Missense_L559F exm30030 1 22923859 [A/C] NM_020526 EPHA8 EXON Missense_P607H exm30033 1 22923873 [G/C] NM_020526 EPHA8 EXON Missense_E612Q exm30052 1 22924646 [T/C] NM_020526 EPHA8 EXON Missense_R707C exm30074 1 22927154 [A/G] NM_020526 EPHA8 EXON Missense_G797S exm30080 1 22927241 [A/G] NM_020526 EPHA8 EXON Missense_V826M exm30082 1 22927274 [T/C] NM_020526 EPHA8 EXON Missense_R837W exm30083 1 22927275 [A/G] NM_020526 EPHA8 EXON Missense_R837Q exm30098 1 22927503 [A/G] NM_020526 EPHA8 EXON Missense_R884H exm30099 1 22927533 [T/C] NM_020526 EPHA8 EXON Missense_A894V exm30100 1 22927541 [T/C] NM_020526 EPHA8 EXON Missense_R897C exm30103 1 22927801 [T/C] NM_020526 EPHA8 EXON Missense_P913L exm30107 1 22927834 [A/G] NM_020526 EPHA8 EXON Missense_R924Q exm1766558 1 22927836 [A/G] NM_020526 EPHA8 EXON Missense_G925R exm30114 1 22927906 [A/G] NM_020526 EPHA8 EXON Missense_R948Q exm30115 1 22927954 [A/G] NM_020526 EPHA8 EXON Missense_R964H exm30116 1 22928124 [A/G] NM_020526 EPHA8 EXON Missense_V970M exm30118 1 22928130 [A/G] NM_020526 EPHA8 EXON Missense_A972T exm30122 1 22928191 [A/G] NM_020526 EPHA8 EXON Missense_R992Q rs209705 1 22934644 [A/G] rs209704 1 22936072 [A/G] rs12128546 1 22937094 [T/G] rs158762 1 22952823 [A/G] rs665691 1 22960354 [G/C] exm30130 1 22964120 [C/G] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Missense_P4R,Missense_P4R,Missense_P4R exm30132 1 22964176 [A/G] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Missense_E23K,Missense_E23K,Missense_E23K exm30134 1 22964189 [A/G] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Missense_R27Q,Missense_R27Q,Missense_R27Q rs172378 1 22965438 [A/G] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Synonymous_G92G,Synonymous_G92G,Synonymous_G92G exm30141 1 22965457 [A/C] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Missense_I99L,Missense_I99L,Missense_I99L exm30144 1 22965538 [A/G] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Missense_M126V,Missense_M126V,Missense_M126V exm30152 1 22965659 [T/C] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Missense_L166P,Missense_L166P,Missense_L166P exm30156 1 22965743 [A/C] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Missense_N194T,Missense_N194T,Missense_N194T exm30171 1 22970616 [A/G] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC EXON Missense_G34R,Missense_G34R,Missense_G34R,Silent rs294185 1 22971892 [A/G] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC Silent,Silent,Silent,Silent exm30177 1 22973770 [T/C] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC EXON Missense_P78S,Missense_P78S,Missense_P78S,Silent exm30193 1 22973962 [A/G] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC EXON Missense_A142T,Missense_A142T,Missense_A142T,Missense_A53T exm30203 1 22974097 [A/G] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC EXON Missense_V187I,Missense_V187I,Missense_V187I,Missense_V98I rs294179 1 22974928 [T/C] rs12734877 1 22977883 [A/C] rs12754182 1 22978268 [T/C] rs17433222 1 22978646 [A/G] rs12756603 1 22981876 [A/G] NM_000491 C1QB Silent rs623183 1 22986631 [A/G] NM_000491 C1QB Silent exm30222 1 22987340 [A/G] NM_000491 C1QB EXON Missense_G75R exm1767006 1 22987511 [A/G] NM_000491 C1QB EXON Missense_V132I exm30233 1 22987523 [T/C] NM_000491 C1QB EXON Missense_R136W exm30249 1 22987724 [T/A] NM_000491 C1QB EXON Missense_N203Y rs292010 1 22989745 [T/C] rs17486657 1 23007175 [T/C] rs294214 1 23026293 [T/C] rs2869513 1 23045943 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs4655093 1 23055360 [T/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs10917284 1 23062908 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs6426763 1 23068761 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs6698922 1 23073167 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs4655100 1 23082002 [T/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs10753544 1 23091273 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs2817909 1 23106213 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent exm30269 1 23107943 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_A31T,Missense_A31T,Missense_A31T,Missense_A31T exm30274 1 23110997 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_R80H,Missense_R80H,Missense_R80H,Missense_R80H exm30286 1 23111354 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_R199H,Missense_R199H,Missense_R199H,Missense_R199H rs10799762 1 23112369 [A/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs2817896 1 23116049 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs10799764 1 23117460 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs4655110 1 23122280 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs10465543 1 23134218 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs2869511 1 23140700 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs4390147 1 23145603 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs10917312 1 23152969 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs4600017 1 23158223 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent exm2268662 1 23168961 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs11800828 1 23171706 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent exm30301 1 23189553 [T/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_A279S,Missense_A279S,Missense_A279S,Missense_A279S exm30302 1 23189565 [G/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_D283H,Missense_D283H,Missense_D283H,Missense_D283H exm30316 1 23191483 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_I361V,Missense_I361V,Missense_I361V,Missense_I361V exm30317 1 23191502 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_S367L,Missense_S367L,Missense_S367L,Missense_S367L exm30319 1 23191508 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_R369Q,Missense_R369Q,Missense_R369Q,Missense_R369Q rs4655134 1 23198619 [T/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent exm2268870 1 23198619 [T/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs11807221 1 23207135 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent exm30333 1 23208887 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_R447C,Missense_R447C,Missense_R447C,Missense_R447C rs309476 1 23212740 [T/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent variant.1611 1 23219372 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent exm30340 1 23219377 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_E477K,Missense_E477K,Missense_E477K,Missense_E477K exm30343 1 23219431 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_V495M,Missense_V495M,Missense_V495M,Missense_V495M exm30355 1 23222908 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_R569W,Silent,Missense_R568W,Missense_R568W rs2675494 1 23227166 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent exm1768105 1 23232567 [A/T] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_I619N,Missense_I560N,Missense_I618N,Missense_I618N exm30372 1 23233263 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_V651A,Missense_V592A,Missense_V650A,Missense_V650A rs309500 1 23233600 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent exm30382 1 23234569 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_V755I,Missense_V696I,Missense_V754I,Missense_V754I var_1_23240208 1 23240208 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Silent,Silent,Nonsense_R1005X,Silent exm2273319 1 23240250 [T/A] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Silent,Silent,Nonsense_K1019X,Silent rs744834 1 23247395 [A/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Silent,Silent,Silent,Silent rs7553678 1 23259167 [A/G] rs722993 1 23267090 [A/G] rs309539 1 23274948 [T/C] rs620514 1 23278632 [A/G] rs7543064 1 23288580 [T/G] NM_001289974 LACTBL1 Silent rs6426775 1 23288828 [A/G] NM_001289974 LACTBL1 Silent rs10799776 1 23289397 [A/G] NM_001289974 LACTBL1 Silent rs309514 1 23293248 [A/G] rs648322 1 23294839 [A/G] rs4655141 1 23312025 [T/C] exm2250884 1 23380259 [A/G] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A EXON Synonymous_Q219Q,Synonymous_Q219Q,Synonymous_Q239Q variant.1615 1 23397857 [A/G] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A Silent,Silent,Silent variant.1616 1 23408021 [A/C] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A EXON Nonsense_C727X,Nonsense_C733X,Nonsense_C751X rs683893 1 23415102 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Silent,Silent exm30500 1 23415426 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Nonsense_R1065X,Nonsense_R1065X exm30501 1 23415438 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R1061W,Missense_R1061W exm30506 1 23415518 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_S1034N,Missense_S1034N exm1768688 1 23415545 [T/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_E1025A,Missense_E1025A exm30509 1 23417732 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R1008Q,Missense_R1008Q exm30510 1 23417738 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R1006Q,Missense_R1006Q exm30511 1 23417739 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R1006W,Missense_R1006W exm30512 1 23417742 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R1005C,Missense_R1005C exm30518 1 23417894 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_Q954R,Missense_Q954R exm30527 1 23417994 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R921W,Missense_R921W exm30532 1 23418068 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_A896V,Missense_A896V exm30535 1 23418128 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R876Q,Missense_R876Q exm30536 1 23418153 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_D868N,Missense_D868N exm30551 1 23418576 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_T727A,Missense_T727A exm30559 1 23418803 [G/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_S651C,Missense_S651C exm30562 1 23418835 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Synonymous_P640P,Synonymous_P640P exm30568 1 23418998 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_N586S,Missense_N586S exm30571 1 23419058 [T/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_A566D,Missense_A566D rs477717 1 23419261 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Synonymous_S498S,Synonymous_S498S exm30580 1 23419283 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_T491I,Missense_T491I exm30585 1 23419368 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_E463K,Missense_E463K rs3765407 1 23419374 [T/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_Q461K,Missense_Q461K exm30586 1 23419374 [T/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_Q461K,Missense_Q461K exm30587 1 23419383 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_G458S,Missense_G458S exm30590 1 23419436 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_S440N,Missense_S440N exm30603 1 23419737 [G/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_L340V,Missense_L340V exm30604 1 23419794 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_D321N,Missense_D321N exm30605 1 23419806 [A/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_S317A,Missense_S317A exm30607 1 23419914 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R281C,Missense_R281C exm30611 1 23419985 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R257K,Missense_R257K exm2232786 1 23420481 [A/T] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_M92L,Missense_M92L exm30625 1 23420637 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_A40T,Missense_A40T exm30626 1 23420650 [T/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_K35N,Missense_K35N rs1208932 1 23429122 [T/G] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent rs765803 1 23431777 [T/G] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent rs16827981 1 23435538 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Silent,Silent rs3845521 1 23472341 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent rs643492 1 23501354 [T/C] rs641032 1 23513980 [A/G] exm30636 1 23519593 [A/G] NM_000864 HTR1D EXON Missense_R374W indel.1622 1 23519612 [I/D] NM_000864 HTR1D EXON exm30645 1 23519851 [A/G] NM_000864 HTR1D EXON Missense_R288C exm30650 1 23519919 [A/G] NM_000864 HTR1D EXON Missense_S265L exm30651 1 23519930 [A/C] NM_000864 HTR1D EXON Missense_H261Q exm30659 1 23520000 [T/C] NM_000864 HTR1D EXON Missense_R238H exm30668 1 23520111 [T/G] NM_000864 HTR1D EXON Missense_S201Y exm1768869 1 23520235 [T/C] NM_000864 HTR1D EXON Missense_A160T exm30675 1 23520243 [A/G] NM_000864 HTR1D EXON Missense_T157I exm30677 1 23520259 [A/C] NM_000864 HTR1D EXON Missense_A152S exm30686 1 23520424 [T/C] NM_000864 HTR1D EXON Missense_A97T exm-rs1738475 1 23536891 [G/C] exm2268663 1 23537555 [T/C] rs627304 1 23537555 [T/C] rs10917360 1 23539010 [A/G] rs10917362 1 23547194 [T/C] rs1740482 1 23565599 [T/C] exm-rs2749146 1 23582880 [T/C] rs9658850 1 23587590 [A/G] rs2749158 1 23618460 [A/G] rs655600 1 23631625 [A/G] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm30701 1 23637261 [T/A] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Missense_S432T,Missense_S492T,Missense_S391T,Missense_S370T,Missense_S530T,Missense_S533T,Missense_S429T exm30708 1 23637513 [T/C] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Missense_I348V,Missense_I408V,Missense_I307V,Missense_I286V,Missense_I446V,Missense_I449V,Missense_I345V exm30722 1 23648027 [T/C] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Missense_V168I,Missense_V231I,Missense_V130I,Missense_V109I,Missense_V269I,Missense_V269I,Missense_V168I rs2103911 1 23667751 [A/C] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR Silent,Silent,Silent,Silent,Silent,Silent,Silent rs644749 1 23687827 [T/C] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Silent,Silent rs646193 1 23688178 [A/G] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Silent,Silent exm30746 1 23688470 [T/C] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Missense_T469A,Missense_T469A indel.1627 1 23688514 [D/I] NM_030634,NM_001077195 ZNF436,ZNF436 EXON indel.1628 1 23688635 [I/D] NM_030634,NM_001077195 ZNF436,ZNF436 EXON rs2849028 1 23688933 [A/G] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Synonymous_N314N,Synonymous_N314N exm30774 1 23689458 [T/C] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Missense_I139M,Missense_I139M exm30776 1 23689580 [T/C] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Missense_G99R,Missense_G99R exm30781 1 23689657 [A/G] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Missense_V73A,Missense_V73A newrs187125393 1 23696092 [A/C] NM_001077195,NR_033690,NR_033691 ZNF436,ZNF436-AS1,ZNF436-AS1 EXON Silent,Silent,Silent rs9887921 1 23700811 [T/C] rs2092933 1 23711376 [T/C] NM_003196 TCEA3 Silent rs1212034 1 23714665 [T/C] NM_003196 TCEA3 Silent exm30827 1 23720422 [T/C] NM_003196 TCEA3 EXON Missense_V257M indel.1632 1 23720492 [D/I] NM_003196 TCEA3 EXON rs7516962 1 23723935 [A/G] NM_003196 TCEA3 Silent exm2260051 1 23731819 [A/G] NM_003196 TCEA3 Silent 1KG_1_23735172 1 23735172 [I/D] NM_003196 TCEA3 EXON rs1787646 1 23742152 [T/C] NM_003196 TCEA3 Silent exm30846 1 23743751 [C/G] NM_003196 TCEA3 EXON Missense_P124R variant.1633 1 23743761 [A/G] NM_003196 TCEA3 EXON Nonsense_R121X exm30847 1 23743761 [A/G] NM_003196 TCEA3 EXON Nonsense_R121X exm30848 1 23743767 [A/T] NM_003196 TCEA3 EXON Nonsense_K119X variant.1635 1 23743812 [A/C] NM_003196 TCEA3 EXON Nonsense_E104X exm30856 1 23743859 [T/C] NM_003196 TCEA3 EXON Missense_E88G exm30864 1 23751126 [A/T] NM_003196 TCEA3 EXON Missense_M1L exm30867 1 23756350 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_X904W,Missense_X895W exm30868 1 23756359 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_L901S,Missense_L892S exm30870 1 23756377 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_A895E,Missense_A886E exm30871 1 23756417 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_I882V,Missense_I873V rs1198433 1 23756695 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent exm30873 1 23757529 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_P879L,Missense_P870L exm30878 1 23757593 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_R858W,Missense_R849W exm30880 1 23757596 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_R857W,Missense_R848W exm30887 1 23758267 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_R823Q,Missense_R814Q exm30898 1 23759594 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_G767R,Missense_G758R exm30899 1 23759609 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_R762W,Missense_R753W exm30902 1 23759654 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_E747K,Missense_E738K exm1769822 1 23759714 [C/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_D727H,Missense_D718H exm30904 1 23759743 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_A717D,Missense_A708D exm1769825 1 23760011 [G/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_Q678H,Missense_Q669H exm30909 1 23760013 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_Q678K,Missense_Q669K exm30910 1 23760133 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_E669K,Missense_E660K exm30911 1 23760157 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_I661V,Missense_I652V exm30924 1 23761026 [C/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_G612A,Missense_G603A exm30925 1 23761027 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_G612S,Missense_G603S newrs147652133 1 23761066 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Nonsense_Q599X,Nonsense_Q590X exm30931 1 23761077 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_K595T,Missense_K586T exm30941 1 23762428 [A/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_I555M,Missense_I546M exm30955 1 23763676 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_A430V,Missense_A421V exm30959 1 23763767 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_A400T,Missense_A391T exm30961 1 23763938 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_E377A,Missense_E368A exm30962 1 23765240 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_H368Y,Missense_H359Y rs1621803 1 23765911 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent exm-rs1077514 1 23766233 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent exm30981 1 23767921 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_R265W,Missense_R256W exm30983 1 23768174 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_E241K,Missense_E232K exm30987 1 23768696 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_F218L,Missense_F209L exm30990 1 23768748 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_G201E,Missense_G192E exm30994 1 23769004 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_H192P,Missense_H183P rs2077066 1 23778362 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent exm31000 1 23779190 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Synonymous_Q141Q,Synonymous_Q141Q exm31007 1 23779253 [C/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_L120F,Missense_L120F exm31017 1 23782519 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_G68D,Missense_G68D rs7522616 1 23794914 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent exm31029 1 23836407 [T/C] NM_004091 E2F2 EXON Missense_D427N exm31032 1 23836478 [A/C] NM_004091 E2F2 EXON Missense_F403C rs2282720 1 23839769 [A/G] NM_004091 E2F2 Silent exm31044 1 23842860 [T/C] NM_004091 E2F2 EXON Missense_D338N exm31047 1 23842939 [T/G] NM_004091 E2F2 EXON Missense_D311E rs3218177 1 23845288 [A/G] NM_004091 E2F2 Silent exm31052 1 23845566 [A/G] NM_004091 E2F2 EXON Missense_T265I newrs145585855 1 23845623 [A/G] NM_004091 E2F2 Silent exm31057 1 23847464 [A/C] NM_004091 E2F2 EXON Missense_Q226H exm31060 1 23847529 [T/C] NM_004091 E2F2 EXON Missense_G205R exm31061 1 23847534 [A/C] NM_004091 E2F2 EXON Missense_R203I exm31062 1 23847537 [A/G] NM_004091 E2F2 EXON Missense_T202I rs2038027 1 23848042 [A/G] NM_004091 E2F2 Silent exm31085 1 23857189 [T/C] NM_004091 E2F2 EXON Missense_S33G exm31086 1 23857247 [A/C] NM_004091 E2F2 EXON Synonymous_G13G exm31087 1 23857249 [G/C] NM_004091 E2F2 EXON Missense_G13R rs1050096 1 23884661 [A/G] NM_002167 ID3 EXON Silent rs2920 1 23884780 [T/C] NM_002167 ID3 EXON Silent exm31094 1 23885480 [A/C] NM_002167 ID3 EXON Missense_S111A exm31097 1 23885498 [T/C] NM_002167 ID3 EXON Missense_T105A exm31106 1 23885662 [C/G] NM_002167 ID3 EXON Missense_E86Q exm31115 1 23885773 [T/A] NM_002167 ID3 EXON Missense_S49T exm31123 1 23885835 [T/C] NM_002167 ID3 EXON Missense_R28Q rs2811946 1 23902416 [A/C] rs10917395 1 23904345 [A/G] variant.1653 1 23919307 [T/G] rs4649100 1 23927929 [T/C] rs2811986 1 23937567 [A/G] rs6677615 1 23942802 [A/G] rs4649102 1 23943905 [A/G] rs2864884 1 23945443 [T/C] exm2268664 1 23945443 [T/C] rs2811956 1 23957318 [A/G] NM_001348075 MDS2 Silent rs10917404 1 23965829 [T/C] NM_001348075 MDS2 Silent rs2864098 1 23972740 [A/G] rs6684096 1 23985309 [A/G] rs7515510 1 23988361 [A/G] rs7549155 1 23994072 [A/G] rs3753270 1 24018224 [T/C] rs2280437 1 24022437 [A/G] NM_001199802,NM_000975 RPL11,RPL11 Silent,Silent exm31220 1 24022915 [A/G] NM_001199802,NM_000975 RPL11,RPL11 EXON Silent,Silent rs561733 1 24049595 [T/G] rs10917420 1 24062987 [T/C] rs3934189 1 24070851 [T/C] NM_003198 ELOA Silent exm31237 1 24077388 [A/C] NM_003198 ELOA EXON Missense_P124H exm31238 1 24077390 [T/C] NM_003198 ELOA EXON Missense_R125W exm31239 1 24077391 [A/G] NM_003198 ELOA EXON Missense_R125Q exm31243 1 24077451 [T/C] NM_003198 ELOA EXON Missense_T145M exm31244 1 24077460 [A/G] NM_003198 ELOA EXON Missense_R148Q exm2232870 1 24077469 [A/G] NM_003198 ELOA EXON Missense_S151N exm31270 1 24077853 [A/G] NM_003198 ELOA EXON Missense_R279H exm31272 1 24077943 [T/C] NM_003198 ELOA EXON Missense_P309L exm31274 1 24077957 [A/G] NM_003198 ELOA EXON Missense_N314D exm31277 1 24077987 [A/G] NM_003198 ELOA EXON Missense_V324I exm31278 1 24077994 [A/G] NM_003198 ELOA EXON Missense_K326R exm31281 1 24078234 [T/C] NM_003198 ELOA EXON Missense_L406S exm31283 1 24078372 [T/C] NM_003198 ELOA EXON Missense_T452I exm31295 1 24078940 [T/C] NM_003198 ELOA EXON Missense_A516V exm31299 1 24080617 [A/C] NM_003198 ELOA EXON Missense_E548A exm31302 1 24080742 [A/G] NM_003198 ELOA EXON Missense_D590N exm31308 1 24082334 [T/C] NM_003198 ELOA EXON Missense_V624A exm31313 1 24082402 [A/G] NM_003198 ELOA EXON Missense_E647K exm31317 1 24082466 [A/G] NM_003198 ELOA EXON Missense_R668Q exm31320 1 24082853 [A/G] NM_003198 ELOA EXON Missense_A714T exm31322 1 24083471 [A/G] NM_003198 ELOA EXON Missense_S731G exm31334 1 24083609 [G/C] NM_003198 ELOA EXON Missense_V777L rs7514394 1 24100223 [T/C] NR_038280 ELOA-AS1 Silent exm31357 1 24112236 [A/G] NM_020362 PITHD1 EXON Missense_R131Q exm31426 1 24122673 [T/C] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_G319E,Missense_G319E,Missense_G319E exm31445 1 24123212 [T/C] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_K257R,Missense_K257R,Missense_K257R exm31460 1 24123555 [A/G] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_I204T,Missense_I204T,Missense_I204T exm31480 1 24124692 [A/G] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_A89V,Missense_A89V,Missense_A89V exm31484 1 24125170 [A/G] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_R58C,Missense_R58C,Missense_R58C exm31487 1 24125380 [A/G] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_R40C,Missense_R40C,Missense_R40C rs2473375 1 24136545 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL Silent,Silent exm31525 1 24140734 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_Q148R,Silent newrs189198317 1 24143165 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Synonymous_A116A,Synonymous_A116A exm1770777 1 24143165 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Synonymous_A116A,Synonymous_A116A exm1770778 1 24143173 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_E114K,Missense_E114K exm2232878 1 24143974 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_V82I,Missense_V82I exm31533 1 24144036 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_D61G,Missense_D61G exm31534 1 24144067 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_V51I,Missense_V51I rs2502979 1 24149315 [A/C] NM_000191,NM_001166059 HMGCL,HMGCL Silent,Silent exm2250937 1 24151858 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Synonymous_A16A,Synonymous_A16A rs10917430 1 24170458 [T/C] exm31549 1 24172332 [T/C] NM_000147 FUCA1 EXON Missense_G425E exm31554 1 24175151 [A/G] NM_000147 FUCA1 EXON Missense_T383I exm31556 1 24175172 [T/C] NM_000147 FUCA1 EXON Missense_R376Q indel.1673 1 24175236 [D/I] NM_000147 FUCA1 EXON exm31570 1 24180962 [T/C] NM_000147 FUCA1 EXON Missense_Q286R var_1_24180963 1 24180963 [A/G] NM_000147 FUCA1 EXON Nonsense_Q286X exm31573 1 24181041 [T/C] NM_000147 FUCA1 EXON Missense_V260I variant.1675 1 24186283 [T/C] NM_000147 FUCA1 Silent 1KG_1_24189631 1 24189631 [I/D] NM_000147 FUCA1 EXON exm31586 1 24192068 [A/G] NM_000147 FUCA1 EXON Missense_P146L exm31587 1 24192072 [A/G] NM_000147 FUCA1 EXON Missense_W145R exm31589 1 24192103 [G/C] NM_000147 FUCA1 EXON Missense_L134F rs3003329 1 24193875 [T/C] NM_000147 FUCA1 Silent exm31606 1 24194773 [A/G] NM_000147 FUCA1 EXON Missense_R2W rs2501424 1 24199182 [T/C] var_1_24201027 1 24201028 [D/I] NM_001841 CNR2 EXON exm31614 1 24201065 [A/G] NM_001841 CNR2 EXON Missense_P348L exm31617 1 24201095 [A/G] NM_001841 CNR2 EXON Missense_T338I exm31621 1 24201162 [A/G] NM_001841 CNR2 EXON Missense_H316Y exm31627 1 24201269 [A/G] NM_001841 CNR2 EXON Missense_A280V exm31636 1 24201402 [A/G] NM_001841 CNR2 EXON Nonsense_R236X exm31641 1 24201513 [T/C] NM_001841 CNR2 EXON Missense_A199T rs2501431 1 24201643 [A/G] NM_001841 CNR2 EXON Synonymous_G155G exm31650 1 24201711 [T/G] NM_001841 CNR2 EXON Missense_L133I exm31651 1 24201716 [T/C] NM_001841 CNR2 EXON Missense_R131Q exm31652 1 24201717 [A/G] NM_001841 CNR2 EXON Nonsense_R131X exm31657 1 24201779 [A/G] NM_001841 CNR2 EXON Missense_I110T exm31665 1 24201911 [T/C] NM_001841 CNR2 EXON Missense_R66Q exm31668 1 24201920 [T/C] NM_001841 CNR2 EXON Missense_Q63R exm31671 1 24202019 [T/C] NM_001841 CNR2 EXON Missense_G30D rs4625225 1 24209971 [T/C] NM_001841 CNR2 Silent rs9424398 1 24221834 [T/G] NM_001841 CNR2 Silent kgp1774784 1 24221935 [A/G] NM_001841 CNR2 Silent kgp2196568 1 24231016 [A/G] NM_001841 CNR2 Silent rs12401982 1 24372971 [T/C] rs11586125 1 24377326 [T/C] rs4649163 1 24379601 [T/C] exm31689 1 24383873 [T/C] NM_152372 MYOM3 EXON Missense_K1432R exm31693 1 24383918 [A/G] NM_152372 MYOM3 EXON Missense_T1417M exm31697 1 24383958 [A/G] NM_152372 MYOM3 EXON Missense_R1404C exm31698 1 24383994 [T/C] NM_152372 MYOM3 EXON Missense_I1392V exm31699 1 24384031 [T/G] NM_152372 MYOM3 EXON Missense_D1379E exm31701 1 24384114 [T/G] NM_152372 MYOM3 EXON Missense_L1352M rs6693386 1 24385330 [T/C] NM_152372 MYOM3 Silent rs7549149 1 24385997 [T/G] NM_152372 MYOM3 Silent rs11811060 1 24388417 [A/G] NM_152372 MYOM3 Silent exm31716 1 24388465 [T/C] NM_152372 MYOM3 EXON Missense_R1302Q exm31722 1 24388564 [A/G] NM_152372 MYOM3 EXON Missense_T1269M exm31726 1 24388592 [A/G] NM_152372 MYOM3 EXON Missense_R1260C var_1_24389611 1 24389611 [T/C] NM_152372 MYOM3 Silent indel.1682 1 24389632 [I/D] NM_152372 MYOM3 EXON exm31731 1 24389694 [T/C] NM_152372 MYOM3 EXON Missense_G1231E exm1771420 1 24390000 [T/C] NM_152372 MYOM3 EXON Missense_E1215K exm1771422 1 24390604 [T/C] NM_152372 MYOM3 EXON Missense_D1194N var_1_24390612 1 24390613 [D/I] NM_152372 MYOM3 EXON rs4456048 1 24392063 [T/C] NM_152372 MYOM3 Silent exm31758 1 24393563 [T/C] NM_152372 MYOM3 EXON Missense_R1124Q exm31759 1 24393564 [A/G] NM_152372 MYOM3 EXON Missense_R1124W variant.1688 1 24394459 [T/C] NM_152372 MYOM3 Silent exm31765 1 24394714 [A/G] NM_152372 MYOM3 EXON Synonymous_D1098D exm31769 1 24394770 [T/C] NM_152372 MYOM3 EXON Missense_A1080T exm31770 1 24394811 [A/G] NM_152372 MYOM3 EXON Missense_I1066T exm31771 1 24394835 [C/G] NM_152372 MYOM3 EXON Missense_R1058P rs6656699 1 24396500 [T/C] NM_152372 MYOM3 Silent exm31776 1 24397636 [A/G] NM_152372 MYOM3 EXON Missense_F1041L exm31783 1 24400656 [T/C] NM_152372 MYOM3 EXON Missense_E988K variant.1690 1 24401840 [A/G] NM_152372 MYOM3 EXON Nonsense_Q943X exm31797 1 24401926 [A/G] NM_152372 MYOM3 EXON Missense_F914S exm31799 1 24401933 [T/C] NM_152372 MYOM3 EXON Missense_E912K exm2250953 1 24401961 [C/G] NM_152372 MYOM3 EXON Synonymous_A902A exm31802 1 24402675 [T/G] NM_152372 MYOM3 EXON Missense_D892A exm31811 1 24406535 [A/G] NM_152372 MYOM3 EXON Missense_P853S exm31815 1 24406608 [T/C] NM_152372 MYOM3 EXON Missense_M828I exm-rs4649175 1 24406647 [A/G] NM_152372 MYOM3 EXON Synonymous_A815A rs4649175 1 24406647 [A/G] NM_152372 MYOM3 EXON Synonymous_A815A exm31818 1 24406652 [A/G] NM_152372 MYOM3 EXON Missense_R814W exm31824 1 24407870 [A/G] NM_152372 MYOM3 EXON Missense_S786L exm31825 1 24407903 [T/C] NM_152372 MYOM3 EXON Missense_R775Q rs4313343 1 24408414 [T/C] NM_152372 MYOM3 Silent exm31831 1 24408594 [T/C] NM_152372 MYOM3 EXON Missense_R726H exm31833 1 24408598 [A/G] NM_152372 MYOM3 EXON Missense_R725C exm31846 1 24409181 [G/C] NM_152372 MYOM3 EXON Missense_T665R exm31849 1 24409191 [T/C] NM_152372 MYOM3 EXON Missense_G662R exm31856 1 24411054 [A/G] NM_152372 MYOM3 EXON Missense_V625A exm31857 1 24411058 [T/G] NM_152372 MYOM3 EXON Missense_P624T variant.1696 1 24411085 [A/G] NM_152372 MYOM3 EXON Nonsense_Q615X indel.1697 1 24411115 [I/D] NM_152372 MYOM3 EXON rs4276861 1 24412447 [T/C] NM_152372 MYOM3 Silent rs4649183 1 24415723 [T/G] NM_152372 MYOM3 Silent exm31876 1 24416059 [T/C] NM_152372 MYOM3 EXON Missense_D528G exm31877 1 24416062 [T/C] NM_152372 MYOM3 EXON Missense_R527Q exm1771510 1 24416104 [T/C] NM_152372 MYOM3 EXON Missense_R513Q exm31882 1 24416117 [T/C] NM_152372 MYOM3 EXON Missense_A509T newrs187599846 1 24416550 [T/C] NM_152372 MYOM3 Silent exm31889 1 24416564 [T/C] NM_152372 MYOM3 EXON Missense_A493T exm31895 1 24417350 [T/C] NM_152372 MYOM3 EXON Missense_V457I exm31899 1 24417383 [A/G] NM_152372 MYOM3 EXON Missense_R446W exm31900 1 24417388 [T/C] NM_152372 MYOM3 EXON Missense_R444Q exm31904 1 24417415 [T/C] NM_152372 MYOM3 EXON Missense_Q435R exm31905 1 24417419 [T/C] NM_152372 MYOM3 EXON Missense_I434V rs4487973 1 24417868 [T/C] NM_152372 MYOM3 Silent exm31922 1 24418758 [A/G] NM_152372 MYOM3 EXON Nonsense_R380X rs7556176 1 24418768 [T/C] NM_152372 MYOM3 EXON Synonymous_P376P exm31926 1 24418794 [T/C] NM_152372 MYOM3 EXON Missense_E368K exm31927 1 24418800 [T/C] NM_152372 MYOM3 EXON Missense_E366K exm31932 1 24419473 [T/C] NM_152372 MYOM3 EXON Missense_G352R exm31938 1 24419496 [A/G] NM_152372 MYOM3 EXON Missense_M344T exm31941 1 24419548 [C/G] NM_152372 MYOM3 EXON Missense_Q327E exm31942 1 24419556 [A/G] NM_152372 MYOM3 EXON Missense_T324I exm1771550 1 24419574 [T/C] NM_152372 MYOM3 EXON Missense_R318H exm31948 1 24421387 [A/G] NM_152372 MYOM3 EXON Missense_S295L exm31949 1 24421405 [G/C] NM_152372 MYOM3 EXON Missense_S289C exm31954 1 24421474 [A/G] NM_152372 MYOM3 EXON Missense_T266M exm31956 1 24421950 [C/G] NM_152372 MYOM3 EXON Missense_D258H rs3885698 1 24424241 [T/C] NM_152372 MYOM3 Silent exm31960 1 24424416 [A/G] NM_152372 MYOM3 EXON Missense_R248C exm31968 1 24426249 [A/G] NM_152372 MYOM3 EXON Missense_R193W exm31978 1 24432519 [T/C] NM_152372 MYOM3 EXON Missense_G151S exm31980 1 24432539 [T/A] NM_152372 MYOM3 EXON Missense_E144V exm31981 1 24432540 [A/C] NM_152372 MYOM3 EXON Nonsense_E144X exm1771595 1 24433570 [G/C] NM_152372 MYOM3 EXON Missense_R132T exm2232908 1 24433576 [A/G] NM_152372 MYOM3 EXON Missense_T130M exm31990 1 24433652 [T/C] NM_152372 MYOM3 EXON Missense_G105S exm31995 1 24433697 [A/T] NM_152372 MYOM3 EXON Missense_S90T exm2232909 1 24433706 [A/G] NM_152372 MYOM3 EXON Missense_R87C exm32000 1 24434510 [A/G] NM_152372 MYOM3 EXON Missense_A72V exm32001 1 24434519 [C/G] NM_152372 MYOM3 EXON Missense_A69G exm32003 1 24434537 [T/G] NM_152372 MYOM3 EXON Missense_A63E exm32007 1 24434559 [T/C] NM_152372 MYOM3 EXON Missense_E56K exm32008 1 24434562 [T/C] NM_152372 MYOM3 EXON Missense_E55K rs11249170 1 24434595 [T/C] NM_152372 MYOM3 Silent rs6686007 1 24442907 [T/C] exm32025 1 24447468 [C/G] NM_021258 IL22RA1 EXON Missense_R518G exm1771625 1 24447657 [T/C] NM_021258 IL22RA1 EXON Missense_M455V exm32035 1 24447707 [T/C] NM_021258 IL22RA1 EXON Missense_G438E exm1771626 1 24447716 [C/G] NM_021258 IL22RA1 EXON Missense_P435R exm32039 1 24447801 [T/C] NM_021258 IL22RA1 EXON Missense_M407V exm32044 1 24447867 [T/C] NM_021258 IL22RA1 EXON Missense_V385I exm32063 1 24448149 [T/C] NM_021258 IL22RA1 EXON Missense_G291S exm32070 1 24448224 [T/C] NM_021258 IL22RA1 EXON Missense_V266I exm32074 1 24449814 [A/G] NM_021258 IL22RA1 EXON Missense_P257L exm32076 1 24449854 [T/C] NM_021258 IL22RA1 EXON Missense_A244T rs11578307 1 24452763 [A/G] NM_021258 IL22RA1 Silent exm32081 1 24454636 [A/G] NM_021258 IL22RA1 EXON Missense_L222P exm32083 1 24454676 [A/C] NM_021258 IL22RA1 EXON Missense_A209S exm32084 1 24454688 [T/C] NM_021258 IL22RA1 EXON Missense_V205I rs16829204 1 24454688 [T/C] NM_021258 IL22RA1 EXON Missense_V205I exm32087 1 24460714 [T/C] NM_021258 IL22RA1 EXON Missense_R173H exm32089 1 24460721 [A/C] NM_021258 IL22RA1 EXON Missense_V171F exm32095 1 24460844 [A/G] NM_021258 IL22RA1 EXON Missense_S130P exm32097 1 24460847 [T/C] NM_021258 IL22RA1 EXON Missense_I129V exm32098 1 24463665 [T/C] NM_021258 IL22RA1 EXON Missense_R104Q exm32102 1 24463705 [A/G] NM_021258 IL22RA1 EXON Missense_L91F exm32106 1 24463737 [T/C] NM_021258 IL22RA1 EXON Missense_N80S exm32109 1 24463758 [T/C] NM_021258 IL22RA1 EXON Missense_R73Q exm32119 1 24465199 [G/C] NM_021258 IL22RA1 EXON Missense_A17P rs10794642 1 24465309 [T/C] NM_021258 IL22RA1 Silent rs4448470 1 24471200 [T/C] rs4648940 1 24475177 [T/C] rs4649191 1 24479274 [T/C] exm32136 1 24483832 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_W451R,Silent,Missense_W422R exm32146 1 24484108 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_H359Y,Silent,Missense_H330Y exm32148 1 24484171 [T/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_V338I,Silent,Missense_V309I exm32149 1 24484195 [T/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_D330N,Silent,Missense_D301N exm32152 1 24484220 [T/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_D321E,Silent,Missense_D292E exm32154 1 24484269 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_T305M,Silent,Missense_T276M exm32157 1 24484365 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_T273I,Synonymous_H229H,Silent exm32161 1 24485564 [T/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_R260Q,Silent,Missense_R260Q rs4649195 1 24485941 [T/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent exm32177 1 24488093 [G/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_C150S,Missense_C150S,Missense_C150S rs7552086 1 24488450 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent exm2250960 1 24495968 [A/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Synonymous_T102T,Synonymous_T102T,Synonymous_T102T exm32185 1 24495990 [T/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_K95R,Missense_K95R,Missense_K95R exm32187 1 24496050 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_A75V,Missense_A75V,Missense_A75V rs7520329 1 24498911 [A/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent rs3893318 1 24505944 [T/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent rs3897440 1 24506861 [T/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent rs7524076 1 24508710 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent rs7552167 1 24518643 [A/G] exm-rs4649203 1 24519920 [A/G] exm-rs11249024 1 24527095 [T/C] NR_027087 LOC284632 Silent rs946662 1 24531634 [A/C] NR_027087 LOC284632 Silent rs11249045 1 24557760 [T/C] exm2264809 1 24564127 [A/G] rs12131684 1 24567435 [T/C] rs7517309 1 24572806 [A/G] rs11249058 1 24583452 [A/G] rs6670533 1 24584490 [A/G] rs12063430 1 24604438 [T/C] rs7535789 1 24607419 [T/C] rs4648960 1 24618605 [T/G] rs4648967 1 24624870 [A/G] rs4641259 1 24625549 [T/G] rs672511 1 24636835 [T/C] rs621535 1 24640314 [A/G] rs2248219 1 24645356 [A/G] rs2486669 1 24657860 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent exm32205 1 24657930 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R11Q,Missense_R11Q,Silent,Missense_R16Q exm32214 1 24658063 [C/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_D55E,Missense_D55E,Missense_D9E,Missense_D60E exm32229 1 24663150 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_P149S,Missense_P149S,Missense_P103S,Missense_P154S exm32232 1 24663184 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_V160A,Missense_V160A,Missense_V114A,Missense_V165A exm32237 1 24663265 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_P187L,Missense_P187L,Missense_P141L,Missense_P192L exm32238 1 24663277 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R191H,Missense_R191H,Missense_R145H,Missense_R196H exm32242 1 24663569 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_S205L,Missense_S205L,Missense_S159L,Missense_S210L exm32253 1 24664220 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_V261I,Missense_V261I,Missense_V215I,Missense_V266I exm32254 1 24664239 [G/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_A267G,Missense_A267G,Missense_A221G,Missense_A272G exm32273 1 24668716 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R387C,Missense_R387C,Missense_R341C,Missense_R392C exm32288 1 24669457 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_T454M,Missense_T454M,Missense_T408M,Missense_T459M exm32291 1 24669481 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_N462S,Missense_N462S,Missense_N416S,Missense_N467S exm32293 1 24669515 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Synonymous_G473G,Synonymous_G473G,Synonymous_G427G,Synonymous_G478G rs4648975 1 24670264 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent exm32295 1 24671397 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_S477L,Missense_S477L,Missense_S431L,Missense_S482L exm32297 1 24671406 [A/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_P480H,Missense_P480H,Missense_P434H,Missense_P485H exm32299 1 24671418 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_N484S,Missense_N484S,Missense_N438S,Missense_N489S exm32304 1 24673057 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R490H,Missense_R490H,Missense_R444H,Missense_R495H exm32307 1 24673119 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_D511N,Missense_D511N,Missense_D465N,Missense_D516N exm32310 1 24680910 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_H581Y,Silent,Missense_H535Y,Missense_H586Y rs7527465 1 24684116 [A/G] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Silent,Silent,Silent,Silent var_1_24685063 1 24685063 [A/G] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Synonymous_N278N,Synonymous_N233N,Synonymous_N325N,Synonymous_N325N exm32319 1 24687343 [C/G] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Missense_P262R,Missense_P217R,Missense_P309R,Missense_P309R exm32324 1 24687371 [T/C] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Missense_A253T,Missense_A208T,Missense_A300T,Missense_A300T indel.1723 1 24687425 [I/D] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON exm32331 1 24687441 [C/G] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Missense_D229E,Missense_D184E,Missense_D276E,Missense_D276E 1KG_1_24687454 1 24687455 [I/D] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON exm32334 1 24690676 [A/G] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Missense_E566K,Silent,Silent,Silent,Silent exm32337 1 24690764 [A/T] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Missense_M595K,Silent,Silent,Silent,Silent rs7535482 1 24695114 [A/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent variant.1725 1 24696162 [A/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent exm32347 1 24696293 [A/G] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Missense_S156L,Missense_S111L,Missense_S203L,Missense_S203L newrs149733917 1 24706142 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent exm32357 1 24706144 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Missense_N107S,Missense_N62S,Missense_N154S,Missense_N154S exm32364 1 24706274 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Missense_A64T,Missense_A19T,Missense_A111T,Missense_A111T exm32365 1 24706292 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Missense_I58V,Missense_I13V,Missense_I105V,Missense_I105V exm32367 1 24706304 [A/T] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Missense_L54M,Missense_L9M,Missense_L101M,Missense_L101M variant.1727 1 24706307 [A/G] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Nonsense_R53X,Nonsense_R8X,Nonsense_R100X,Nonsense_R100X rs3765431 1 24706410 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent variant.1728 1 24710352 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent exm32374 1 24710405 [A/G] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Missense_M46T,Missense_M1T,Missense_M93T,Missense_M93T exm32377 1 24710465 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Missense_N26S,Silent,Missense_N73S,Missense_N73S exm32379 1 24710487 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Missense_I19V,Silent,Missense_I66V,Missense_I66V exm2250982 1 24718075 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Silent,Silent,Synonymous_Q55Q,Synonymous_Q55Q exm32381 1 24718079 [A/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Silent,Silent,Missense_S54I,Missense_S54I variant.1729 1 24727815 [T/G] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Nonsense_Y14X,Silent,Missense_Q22K,Missense_Q22K rs576096 1 24734386 [A/G] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent rs10489440 1 24735363 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent exm32388 1 24746056 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Missense_A7T,Silent,Silent,Missense_A7T,Silent,Silent,Silent,Missense_A7T,Missense_A7T,Missense_A7T,Silent,Silent,Missense_A7T,Silent,Missense_A7T,Silent,Silent,Missense_A7T,Missense_A7T rs6670829 1 24751920 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10903086 1 24755281 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1008485 1 24764689 [T/C] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm32403 1 24768603 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Missense_K74R,Silent,Silent,Missense_K74R,Silent,Silent,Silent,Missense_K74R,Missense_K74R,Missense_K74R,Silent,Missense_K73R,Missense_K65R,Silent,Missense_K74R,Silent,Silent,Missense_K74R,Missense_K74R exm32406 1 24768665 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Missense_A95T,Silent,Silent,Missense_A95T,Silent,Silent,Missense_A13T,Missense_A95T,Missense_A95T,Missense_A95T,Silent,Missense_A94T,Missense_A86T,Silent,Missense_A95T,Silent,Missense_A13T,Missense_A95T,Missense_A95T exm32409 1 24768686 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Missense_I102V,Silent,Silent,Missense_I102V,Silent,Silent,Missense_I20V,Missense_I102V,Missense_I102V,Missense_I102V,Silent,Missense_I101V,Missense_I93V,Silent,Missense_I102V,Silent,Missense_I20V,Missense_I102V,Missense_I102V rs4648988 1 24775000 [T/C] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm32418 1 24776000 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Missense_G142S,Silent,Silent,Missense_G142S,Silent,Silent,Missense_G60S,Missense_G142S,Missense_G142S,Missense_G142S,Silent,Missense_G141S,Missense_G133S,Silent,Missense_G142S,Silent,Missense_G60S,Missense_G142S,Missense_G142S exm32420 1 24776012 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Missense_V146M,Silent,Silent,Missense_V146M,Silent,Silent,Missense_V64M,Missense_V146M,Missense_V146M,Missense_V146M,Silent,Missense_V145M,Missense_V137M,Silent,Missense_V146M,Silent,Missense_V64M,Missense_V146M,Missense_V146M rs2281188 1 24781247 [T/C] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm32439 1 24782681 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Missense_I231V,Silent,Silent,Missense_I70V,Silent,Missense_I149V,Missense_I231V,Missense_I231V,Missense_I231V,Missense_I70V,Missense_I230V,Missense_I222V,Missense_I70V,Missense_I231V,Missense_I70V,Missense_I149V,Missense_I231V,Missense_I231V exm32447 1 24782763 [T/C] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Missense_A258V,Silent,Silent,Missense_A97V,Silent,Missense_A176V,Missense_A258V,Missense_A258V,Missense_A258V,Missense_A97V,Missense_A257V,Missense_A249V,Missense_A97V,Missense_A258V,Missense_A97V,Missense_A176V,Missense_A258V,Missense_A258V indel.1732 1 24784312 [D/I] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 variant.1733 1 24784323 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2272935 1 24785393 [T/C] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Synonymous_A263A,Silent,Silent,Synonymous_A102A,Silent,Synonymous_A181A,Synonymous_A263A,Silent,Synonymous_A263A,Synonymous_A102A,Synonymous_A262A,Synonymous_A254A,Synonymous_A102A,Synonymous_A263A,Synonymous_A102A,Synonymous_A181A,Synonymous_A263A,Synonymous_A263A newrs151305924 1 24785405 [T/C] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Synonymous_Y267Y,Silent,Silent,Synonymous_Y106Y,Silent,Synonymous_Y185Y,Synonymous_Y267Y,Silent,Synonymous_Y267Y,Synonymous_Y106Y,Synonymous_Y266Y,Synonymous_Y258Y,Synonymous_Y106Y,Synonymous_Y267Y,Synonymous_Y106Y,Synonymous_Y185Y,Synonymous_Y267Y,Synonymous_Y267Y rs195704 1 24813155 [T/C] rs195712 1 24818499 [T/C] exm2260076 1 24822500 [T/C] rs7540336 1 24832734 [A/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 Silent,Silent,Silent,Silent,Silent,Silent exm32472 1 24840882 [A/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Silent,Missense_K7R,Missense_K7R,Missense_K7R,Missense_K7R,Silent,Missense_K7R,Missense_K7R,Missense_K7R,Missense_K7R variant.1735 1 24841046 [T/C] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Silent,Nonsense_R62X,Nonsense_R62X,Nonsense_R62X,Nonsense_R62X,Silent,Nonsense_R62X,Nonsense_R62X,Nonsense_R62X,Nonsense_R62X rs9424380 1 24849240 [T/C] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs185511 1 24857086 [A/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.1738 1 24861697 [D/I] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON exm32494 1 24861697 [T/C] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Missense_A94V,Missense_A219V,Missense_A219V,Missense_A219V,Missense_A161V,Missense_A94V,Missense_A219V,Missense_A209V,Missense_P104S,Missense_P162S rs196432 1 24861704 [A/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Synonymous_T96T,Synonymous_T221T,Synonymous_T221T,Synonymous_T221T,Synonymous_T163T,Synonymous_T96T,Synonymous_T221T,Synonymous_T211T,Missense_R106Q,Missense_R164Q exm2232995 1 24861714 [A/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Missense_D100N,Missense_D225N,Missense_D225N,Missense_D225N,Missense_D167N,Missense_D100N,Missense_D225N,Missense_D215N,Synonymous_P109P,Synonymous_P167P rs11231 1 24863285 [T/C] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7540973 1 24864576 [T/G] rs2776747 1 24876383 [T/C] NR_109781 LOC100506985 Silent rs12065278 1 24877458 [A/G] NR_109781 LOC100506985 Silent rs6424099 1 24881126 [T/C] NR_109781 LOC100506985 Silent rs6424101 1 24881453 [T/G] NR_109781 LOC100506985 Silent rs3893315 1 24884460 [A/G] NM_001010980 NCMAP Silent rs12122463 1 24886818 [A/G] NM_001010980 NCMAP Silent rs4610948 1 24888585 [T/C] NM_001010980 NCMAP Silent rs1929301 1 24894997 [A/G] NM_001010980 NCMAP Silent rs6424106 1 24898453 [T/C] NM_001010980 NCMAP Silent rs4648998 1 24901121 [A/C] NM_001010980 NCMAP Silent rs11249138 1 24910319 [T/C] NM_001010980 NCMAP Silent exm32503 1 24922000 [A/G] NM_001010980 NCMAP EXON Missense_K27E rs10903095 1 24922129 [A/G] NM_001010980 NCMAP Silent rs4425931 1 24927001 [T/G] NM_001010980 NCMAP Silent exm32505 1 24927446 [T/C] NM_001010980 NCMAP EXON Missense_V33A exm32506 1 24927454 [A/G] NM_001010980 NCMAP EXON Missense_V36I rs4649002 1 24929676 [A/G] NM_001010980 NCMAP Silent exm32517 1 24932223 [C/G] NM_001010980 NCMAP EXON Missense_Q98H exm32518 1 24932231 [T/C] NM_001010980 NCMAP EXON Missense_T101M rs11249141 1 24932733 [A/G] NM_001010980 NCMAP EXON Silent rs12062985 1 24937258 [T/C] rs4649005 1 24947948 [T/C] exm32537 1 24976486 [A/G] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Missense_M144V,Missense_M144V,Missense_M105V exm32543 1 24977982 [T/C] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Missense_R202C,Missense_R202C,Missense_R163C exm32558 1 24979423 [T/C] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Missense_R314W,Missense_R314W,Missense_R275W exm32561 1 24979487 [T/C] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Missense_P335L,Missense_P335L,Missense_P296L exm32571 1 24981585 [A/G] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Missense_R427H,Missense_R427H,Missense_R388H exm32595 1 24995631 [T/C] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Missense_P586L,Missense_P598L,Missense_P559L exm32611 1 24995933 [T/C] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Missense_R687W,Missense_R699W,Missense_R660W rs6691770 1 25012493 [T/C] rs2885174 1 25021037 [A/C] rs7543969 1 25029118 [T/C] exm-rs4601530 1 25044111 [T/C] rs1002706 1 25051153 [A/G] rs2185151 1 25069939 [A/G] kgp377810 1 25073020 [T/C] NM_013943 CLIC4 Silent kgp3625443 1 25073571 [A/C] NM_013943 CLIC4 Silent exm32654 1 25124329 [A/G] NM_013943 CLIC4 EXON Missense_V57I rs3890756 1 25140825 [A/G] NM_013943 CLIC4 Silent rs10794663 1 25145128 [T/C] NM_013943 CLIC4 Silent rs6667299 1 25158500 [T/C] NM_013943 CLIC4 Silent exm32664 1 25167282 [T/C] NM_013943 CLIC4 EXON Missense_R206C variant.1744 1 25167351 [T/G] NM_013943 CLIC4 EXON Nonsense_E229X rs12439 1 25169634 [A/G] NM_013943 CLIC4 EXON Silent rs7551842 1 25178310 [T/C] rs7523543 1 25186716 [A/G] rs6681012 1 25188064 [A/G] rs10903108 1 25188940 [T/G] rs3131513 1 25193155 [A/G] rs2361150 1 25194299 [A/G] rs3131522 1 25199722 [T/G] rs4649033 1 25207629 [A/G] rs7551358 1 25213803 [A/G] rs10903113 1 25215750 [T/C] rs11578143 1 25215989 [A/G] rs4649036 1 25217346 [A/G] rs6663310 1 25222379 [T/C] exm32684 1 25228747 [T/C] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 EXON Missense_A386T,Missense_A386T,Missense_A372T exm32692 1 25228900 [T/C] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 EXON Missense_G335R,Missense_G335R,Missense_G321R rs2236850 1 25240341 [T/C] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 Silent,Silent,Silent rs2236852 1 25243767 [A/G] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 Silent,Silent,Silent rs742230 1 25251424 [A/G] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 Silent,Silent,Silent rs6662768 1 25251938 [T/C] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 Silent,Silent,Silent rs11249206 1 25277982 [T/C] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent exm2251041 1 25277982 [T/C] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent rs1848185 1 25282961 [T/C] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent rs11249215 1 25297184 [A/G] exm-rs11249215 1 25297184 [A/G] rs11249216 1 25297217 [T/G] rs1609996 1 25301869 [T/C] exm-rs10903122 1 25303576 [A/G] rs9438880 1 25322574 [A/G] rs311469 1 25331411 [A/G] rs311470 1 25331468 [A/G] rs12058910 1 25333264 [A/G] rs12117144 1 25335222 [T/C] rs10489161 1 25338799 [A/G] rs10903126 1 25344155 [A/G] rs11249245 1 25354020 [A/G] rs311426 1 25358211 [A/G] rs1702312 1 25364652 [T/C] rs404100 1 25366987 [T/C] rs380939 1 25370521 [T/C] rs4649058 1 25375468 [A/G] rs11248971 1 25375583 [A/G] rs4082732 1 25377908 [A/C] exm2264810 1 25378444 [A/G] rs1702311 1 25379360 [A/G] rs7520145 1 25380023 [T/C] rs1997927 1 25382618 [A/G] rs4649060 1 25384533 [T/G] rs12126466 1 25395879 [A/G] rs4568778 1 25397967 [T/C] rs6693687 1 25401760 [T/C] rs380337 1 25401850 [A/G] rs443523 1 25403783 [T/G] rs10493026 1 25407854 [T/G] rs311477 1 25409607 [A/G] rs7533661 1 25413466 [A/G] rs311461 1 25418010 [A/G] rs11588172 1 25421990 [T/C] rs706844 1 25429473 [T/C] rs2660353 1 25441546 [T/C] rs2660367 1 25460648 [T/G] rs11804893 1 25462079 [A/G] rs7530932 1 25467161 [A/G] rs926461 1 25486203 [A/G] rs7527379 1 25495966 [A/G] rs742390 1 25499030 [A/G] rs4520361 1 25519623 [T/C] rs742391 1 25525711 [T/C] rs7516417 1 25548332 [A/G] exm32781 1 25551505 [T/C] NM_207170,NM_015484 SYF2,SYF2 EXON Missense_D143G,Missense_D185G exm32783 1 25551509 [T/C] NM_207170,NM_015484 SYF2,SYF2 EXON Missense_I142V,Missense_I184V exm32789 1 25553993 [T/C] NM_207170,NM_015484 SYF2,SYF2 EXON Missense_H94R,Missense_H136R rs12057593 1 25554230 [T/C] NM_207170,NM_015484 SYF2,SYF2 Silent,Silent exm32794 1 25554719 [A/G] NM_207170,NM_015484 SYF2,SYF2 EXON Missense_A47V,Missense_A89V variant.1748 1 25555484 [T/C] NM_207170,NM_015484 SYF2,SYF2 Silent,Silent exm2268872 1 25555672 [T/C] NM_207170,NM_015484 SYF2,SYF2 Silent,Silent rs942988 1 25555813 [A/G] NM_207170,NM_015484 SYF2,SYF2 Silent,Silent rs11809414 1 25558751 [A/G] NM_207170,NM_015484 SYF2,SYF2 Silent,Silent newrs149585550 1 25569197 [T/C] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm32810 1 25570081 [T/C] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_E239G,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E239G,Silent,Silent,Silent,Silent,Silent exm32815 1 25571666 [A/G] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_V216A,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V216A,Silent,Silent,Silent,Silent,Silent indel.1752 1 25572950 [I/D] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON exm32828 1 25572968 [A/G] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_R163W,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R163W,Silent,Silent,Silent,Silent,Silent exm32830 1 25572984 [T/G] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_R157S,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R157S,Silent,Silent,Silent,Silent,Silent exm32831 1 25572985 [T/C] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_R157K,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R157K,Silent,Silent,Silent,Silent,Silent exm32832 1 25572993 [T/C] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Nonsense_W154X,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_W154X,Silent,Silent,Silent,Silent,Silent exm32833 1 25573016 [A/G] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_Y147H,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y147H,Silent,Silent,Silent,Silent,Silent exm32839 1 25573151 [T/C] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_R102G,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R102G,Silent,Silent,Silent,Silent,Silent exm32843 1 25573262 [C/G] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_R65G,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R65G,Silent,Silent,Silent,Silent,Silent exm32848 1 25573406 [T/C] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_D17N,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D17N,Silent,Silent,Silent,Silent,Silent indel.1762 1 25627434 [I/D] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD exm32886 1 25627470 [A/G] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD EXON Silent,Silent,Silent,Silent,Missense_V8M,Missense_V174M,Missense_V174M,Missense_V174M,Missense_V174M,Missense_V174M,Missense_V174M,Missense_V174M exm32902 1 25628050 [T/C] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD EXON Silent,Silent,Silent,Silent,Missense_S59F,Missense_S225F,Missense_S225F,Missense_S225F,Missense_S225F,Missense_S225F,Missense_S225F,Missense_S225F exm1778926 1 25629943 [A/C] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869,NR_135790,NR_135792,NR_135793,NR_135791 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Silent,Silent,Missense_Y145S,Missense_Y311S,Missense_Y311S,Missense_Y311S,Missense_Y311S,Missense_Y311S,Missense_Y311S,Missense_Y311S,Silent,Silent,Silent,Silent exm32925 1 25629950 [A/G] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869,NR_135790,NR_135792,NR_135793,NR_135791 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Silent,Silent,Synonymous_P147P,Synonymous_P313P,Synonymous_P313P,Synonymous_P313P,Synonymous_P313P,Synonymous_P313P,Synonymous_P313P,Synonymous_P313P,Silent,Silent,Silent,Silent exm32949 1 25667024 [T/G] NM_014313 TMEM50A EXON Missense_W16L exm32955 1 25669467 [T/G] NM_014313 TMEM50A EXON Missense_W37G exm32957 1 25669531 [T/C] NM_014313 TMEM50A EXON Missense_A58V rs3093588 1 25669656 [T/C] NM_014313 TMEM50A Silent exm-rs3091242 1 25674785 [T/C] NM_014313 TMEM50A Silent newrs145601651 1 25678145 [T/C] NM_014313 TMEM50A EXON Nonsense_R79X exm1779623 1 25679393 [A/G] NM_014313 TMEM50A EXON Missense_V99I exm32964 1 25679438 [A/G] NM_014313 TMEM50A EXON Missense_I114V rs9689 1 25688276 [A/G] NM_014313 TMEM50A EXON Silent rs1293259 1 25695835 [A/G] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent,Silent rs28742187 1 25698655 [A/G] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent,Silent exm32979 1 25712227 [C/G] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE EXON Missense_H350D,Missense_H245D,Silent,Missense_H350D,Missense_H199D exm32981 1 25712269 [A/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE EXON Missense_G336C,Missense_G231C,Silent,Missense_G336C,Missense_G185C exm32993 1 25715588 [A/G] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE EXON Missense_A273V,Missense_A168V,Missense_A273V,Missense_A273V,Silent exm33001 1 25717365 [G/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE EXON Missense_A226P,Silent,Missense_A226P,Missense_A226P,Silent exm33010 1 25718599 [T/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE EXON Missense_V174M,Silent,Missense_V174M,Missense_V174M,Silent exm1780091 1 25729198 [G/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE EXON Missense_I125M,Missense_I125M,Missense_I125M,Missense_I125M,Missense_I125M exm2263875 1 25747156 [T/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE EXON Missense_Q41R,Missense_Q41R,Missense_Q41R,Missense_Q41R,Missense_Q41R rs11249248 1 25753051 [T/C] exm-rs10903129 1 25768937 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent rs10903129 1 25768937 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1KG_1_25775374 1 25775374 [I/D] NM_001282564,NM_018202 MACO1,MACO1 EXON exm-rs12027135 1 25775733 [T/A] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent exm33067 1 25783303 [A/C] NM_001282564,NM_018202 MACO1,MACO1 EXON Silent,Missense_Q211H exm33077 1 25785240 [A/C] NM_001282564,NM_018202 MACO1,MACO1 EXON Silent,Missense_S337R rs34933589 1 25788198 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent kgp3584491 1 25794892 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent exm33104 1 25880437 [T/C] NM_015627 LDLRAP1 EXON Missense_T38M exm33110 1 25881403 [A/G] NM_015627 LDLRAP1 EXON Missense_R95Q exm33125 1 25883750 [T/C] NM_015627 LDLRAP1 EXON Missense_R151W rs12096438 1 25889422 [T/C] NM_015627 LDLRAP1 Silent exm33137 1 25889632 [T/C] NM_015627 LDLRAP1 EXON Missense_S202P exm33138 1 25889633 [A/C] NM_015627 LDLRAP1 EXON Missense_S202Y exm33142 1 25890161 [T/C] NM_015627 LDLRAP1 EXON Missense_T209I exm33143 1 25890188 [T/C] NM_015627 LDLRAP1 EXON Missense_T218I exm33146 1 25890211 [A/G] NM_015627 LDLRAP1 EXON Missense_V226I exm33163 1 25893406 [A/G] NM_015627 LDLRAP1 EXON Missense_A284T exm33168 1 25893463 [A/G] NM_015627 LDLRAP1 EXON Missense_D303N rs3924234 1 25895599 [T/C] rs10902661 1 25908241 [T/C] rs7546822 1 25914219 [T/C] rs7553504 1 25928935 [T/C] rs6689171 1 25941014 [A/G] rs3754168 1 25941936 [T/G] exm33178 1 25944454 [C/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_P56A,Missense_P56A rs6662191 1 25950520 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs3767908 1 25968690 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs3014714 1 25981789 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs3767897 1 25988174 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs3014712 1 25991356 [T/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent exm33191 1 26012988 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_R200C,Missense_R200C rs2744778 1 26013252 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs2744780 1 26020784 [A/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs2786875 1 26061266 [A/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs3767880 1 26069415 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent exm33195 1 26073240 [A/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_K240T,Missense_K240T exm33196 1 26073242 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_A241T,Missense_A241T exm33205 1 26080021 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_A294V,Missense_A294V rs807262 1 26081051 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent exm1781563 1 26085106 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_A318V,Missense_A318V rs807270 1 26090072 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs3820515 1 26092248 [A/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent exm2268666 1 26097731 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent exm33243 1 26104774 [A/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_A479D,Missense_A479D exm33252 1 26107481 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_V510M,Missense_V510M exm33254 1 26107502 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_S517G,Missense_S517G exm33256 1 26109077 [G/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_A551G,Missense_A551G exm33269 1 26110236 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Silent,Missense_V617M rs7524154 1 26125175 [T/C] exm33277 1 26131638 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_T103A,Missense_T137A exm33278 1 26131644 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_A105T,Missense_A139T exm33280 1 26131654 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_C108Y,Missense_C142Y exm33290 1 26135249 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_R205H,Missense_R239H exm33299 1 26136244 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_G281S,Missense_G315S exm33319 1 26139191 [T/C] NM_206926,NM_020451 SELENON,SELENON EXON Missense_P398L,Missense_P432L exm33331 1 26140573 [A/C] NM_206926,NM_020451 SELENON,SELENON EXON Missense_N468K,Missense_N502K exm33340 1 26142081 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_V515M,Missense_V549M exm33341 1 26142090 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_E518K,Missense_E552K exm33345 1 26142151 [A/C] NM_206926,NM_020451 SELENON,SELENON EXON Missense_T538N,Missense_T572N exm33346 1 26142180 [T/C] NM_206926,NM_020451 SELENON,SELENON EXON Missense_R548W,Missense_R582W exm33347 1 26142181 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_R548Q,Missense_R582Q var_1_26150110 1 26150110 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L Silent,Silent,Silent,Silent variant.1792 1 26150111 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L Silent,Silent,Silent,Silent exm33356 1 26150160 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_P17L,Missense_P17L,Missense_P17L,Missense_P17L exm33359 1 26150190 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_R27K,Missense_R27K,Missense_R27K,Missense_R27K exm33365 1 26152835 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_P58S,Missense_P58S,Missense_P58S,Missense_P58S exm33370 1 26153114 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_T83M,Missense_T83M,Missense_T83M,Missense_T83M exm33373 1 26153204 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_R113K,Missense_R113K,Missense_R113K,Missense_R113K exm33375 1 26153245 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_R127C,Missense_R127C,Missense_R127C,Missense_R127C rs10902694 1 26155356 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L Silent,Silent,Silent,Silent exm33383 1 26156074 [A/T] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_S176T,Silent,Missense_S176T,Missense_S176T exm33384 1 26156118 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Synonymous_T190T,Missense_P154L,Synonymous_T190T,Synonymous_T190T exm33385 1 26156133 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Synonymous_V195V,Nonsense_W159X,Synonymous_V195V,Synonymous_V195V variant.1795 1 26156299 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Nonsense_R251X,Silent,Nonsense_R251X,Nonsense_R251X exm33394 1 26158498 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626,NM_001287490 MTFR1L,MTFR1L,MTFR1L,MTFR1L,AUNIP EXON Missense_I287T,Silent,Missense_I287T,Missense_I287T,Silent indel.1796 1 26161572 [I/D] NM_001287490,NM_024037 AUNIP,AUNIP EXON exm33400 1 26161593 [T/C] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_N322S,Missense_N322S var_1_26161629 1 26161630 [I/D] NM_001287490,NM_024037 AUNIP,AUNIP EXON exm33403 1 26161671 [T/C] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_R296Q,Missense_R296Q indel.1798 1 26161781 [I/D] NM_001287490,NM_024037 AUNIP,AUNIP EXON indel.1799 1 26161784 [I/D] NM_001287490,NM_024037 AUNIP,AUNIP EXON indel.1800 1 26161799 [D/I] NM_001287490,NM_024037 AUNIP,AUNIP EXON exm33409 1 26161800 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_S253F,Missense_S253F variant.1801 1 26161834 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Nonsense_Q242X,Nonsense_Q242X indel.1804 1 26161916 [D/I] NM_001287490,NM_024037 AUNIP,AUNIP EXON variant.1805 1 26161965 [T/C] NM_001287490,NM_024037 AUNIP,AUNIP EXON Nonsense_W198X,Nonsense_W198X variant.1806 1 26161999 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Nonsense_R187X,Nonsense_R187X exm33419 1 26162016 [T/C] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_S181N,Missense_S181N exm33424 1 26162109 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_S150L,Missense_S150L exm2251114 1 26162258 [T/C] NM_001287490,NM_024037 AUNIP,AUNIP EXON Synonymous_A100A,Synonymous_A100A exm33428 1 26162259 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_A100V,Missense_A100V exm33430 1 26162313 [T/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_K82T,Missense_K82T exm33437 1 26163981 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_I48T,Missense_I48T indel.1809 1 26164006 [D/I] NM_001287490,NM_024037 AUNIP,AUNIP EXON exm33438 1 26164009 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_L39F,Missense_L39F indel.1810 1 26164009 [D/I] NM_001287490,NM_024037 AUNIP,AUNIP EXON rs213632 1 26167843 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP Silent,Silent rs213627 1 26172111 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP Silent,Silent exm33442 1 26185812 [A/C] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_V13L,Missense_V13L rs213637 1 26188625 [T/G] NM_178422 PAQR7 EXON Silent exm1781783 1 26189349 [T/G] NM_178422 PAQR7 EXON Missense_L328I exm1781784 1 26189351 [A/C] NM_178422 PAQR7 EXON Missense_I327S exm33455 1 26189366 [A/G] NM_178422 PAQR7 EXON Missense_T322M exm33461 1 26189517 [T/C] NM_178422 PAQR7 EXON Missense_G272R exm33466 1 26189652 [T/C] NM_178422 PAQR7 EXON Missense_V227M exm33473 1 26189838 [T/C] NM_178422 PAQR7 EXON Missense_A165T exm33477 1 26189939 [G/C] NM_178422 PAQR7 EXON Missense_S131C exm33490 1 26190120 [T/C] NM_178422 PAQR7 EXON Missense_E71K exm33494 1 26190140 [A/G] NM_178422 PAQR7 EXON Missense_T64M exm1781797 1 26190156 [A/G] NM_178422 PAQR7 EXON Missense_R59C exm33499 1 26190188 [T/C] NM_178422 PAQR7 EXON Missense_Y48C exm33503 1 26190287 [T/C] NM_178422 PAQR7 EXON Missense_R15Q rs213621 1 26207244 [A/G] rs159530 1 26210791 [T/C] NM_001145454 STMN1 EXON Silent rs159528 1 26211773 [T/C] NM_001145454 STMN1 EXON Silent exm2233038 1 26212220 [A/C] NM_001145454 STMN1 EXON Missense_H173Q exm33531 1 26212261 [A/G] NM_001145454 STMN1 EXON Missense_L160F rs807061 1 26242882 [A/G] rs10902706 1 26246214 [A/G] rs10902707 1 26266697 [A/G] rs10902709 1 26274156 [A/G] rs10751731 1 26284884 [T/C] exm33548 1 26288523 [A/G] NM_000437 PAFAH2 EXON Missense_P379L rs1429936 1 26297909 [A/G] NM_000437 PAFAH2 Silent exm2276804 1 26299049 [C/G] NM_000437 PAFAH2 EXON Missense_D362H exm33549 1 26299050 [A/G] NM_000437 PAFAH2 EXON Synonymous_L361L 1KG_1_26299200 1 26299200 [D/I] NM_000437 PAFAH2 EXON variant.1815 1 26299205 [T/C] NM_000437 PAFAH2 Silent exm33557 1 26300975 [T/C] NM_000437 PAFAH2 EXON Missense_V309I indel.1816 1 26301007 [D/I] NM_000437 PAFAH2 EXON indel.1817 1 26301035 [D/I] NM_000437 PAFAH2 EXON variant.1818 1 26301080 [A/G] NM_000437 PAFAH2 EXON Nonsense_R274X indel.1819 1 26301104 [D/I] NM_000437 PAFAH2 EXON exm33561 1 26301114 [T/C] NM_000437 PAFAH2 EXON Missense_M262I rs298442 1 26301699 [T/C] NM_000437 PAFAH2 Silent exm33563 1 26303173 [T/C] NM_000437 PAFAH2 EXON Missense_R253Q exm33565 1 26303228 [A/G] NM_000437 PAFAH2 EXON Missense_H235Y variant.1821 1 26308855 [T/C] NM_000437 PAFAH2 EXON Synonymous_K222K exm33566 1 26308864 [T/C] NM_000437 PAFAH2 EXON Missense_M219I indel.1822 1 26308880 [D/I] NM_000437 PAFAH2 EXON exm33570 1 26308958 [T/C] NM_000437 PAFAH2 EXON Missense_R188Q exm1781988 1 26310438 [T/C] NM_000437 PAFAH2 EXON Missense_Q184R exm33574 1 26310469 [T/C] NM_000437 PAFAH2 EXON Missense_G174R exm33575 1 26310477 [A/G] NM_000437 PAFAH2 EXON Missense_V171A exm33576 1 26310481 [A/G] NM_000437 PAFAH2 EXON Nonsense_R170X exm33595 1 26314810 [A/G] NM_000437 PAFAH2 EXON Missense_R85C exm33599 1 26315966 [T/C] NM_000437 PAFAH2 EXON Missense_G73R variant.1829 1 26317229 [A/G] NM_000437 PAFAH2 EXON Nonsense_Q27X exm1782009 1 26317301 [A/C] NM_000437 PAFAH2 EXON Missense_V3F exm33612 1 26317303 [T/C] NM_000437 PAFAH2 EXON Missense_G2E rs12074420 1 26345027 [A/G] exm33617 1 26349187 [T/C] NM_004455 EXTL1 EXON Missense_S17F exm33619 1 26349220 [C/G] NM_004455 EXTL1 EXON Missense_S28C exm33623 1 26349252 [T/C] NM_004455 EXTL1 EXON Missense_R39W exm33625 1 26349342 [A/G] NM_004455 EXTL1 EXON Missense_V69I exm33626 1 26349354 [G/C] NM_004455 EXTL1 EXON Missense_Q73E exm1782051 1 26349373 [C/G] NM_004455 EXTL1 EXON Missense_S79T exm33627 1 26349374 [A/C] NM_004455 EXTL1 EXON Missense_S79R exm33631 1 26349417 [A/G] NM_004455 EXTL1 EXON Missense_D94N exm33636 1 26349625 [A/G] NM_004455 EXTL1 EXON Missense_R163H exm33648 1 26349886 [C/G] NM_004455 EXTL1 EXON Missense_G250A exm33653 1 26355691 [T/C] NM_004455 EXTL1 EXON Missense_R263C exm33654 1 26355692 [A/G] NM_004455 EXTL1 EXON Missense_R263H exm33656 1 26355739 [T/C] NM_004455 EXTL1 EXON Missense_R279C exm33657 1 26355740 [A/G] NM_004455 EXTL1 EXON Missense_R279H exm33658 1 26355745 [A/G] NM_004455 EXTL1 EXON Missense_E281K exm33667 1 26356190 [G/C] NM_004455 EXTL1 EXON Missense_P325A exm33676 1 26357072 [A/C] NM_004455 EXTL1 EXON Missense_H363N exm33681 1 26357656 [A/C] NM_004455 EXTL1 EXON Missense_H379N exm33708 1 26361467 [A/G] NM_004455 EXTL1 EXON Missense_G607D exm33709 1 26361497 [T/C] NM_004455 EXTL1 Silent exm33714 1 26361669 [A/C] NM_004455 EXTL1 EXON Missense_P621Q rs4659404 1 26365374 [T/G] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Silent,Silent exm33724 1 26365722 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_V350M,Missense_V301M exm33725 1 26365751 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_R340H,Missense_R291H exm33726 1 26365752 [A/G] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_R340C,Missense_R291C exm33728 1 26365782 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_A330T,Missense_A281T exm33735 1 26366369 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_R291H,Missense_R242H exm33767 1 26371679 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_G27E,Missense_G27E exm33769 1 26371691 [A/G] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_L23P,Missense_L23P exm33774 1 26372371 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_K6R,Missense_K6R rs3008428 1 26376607 [A/G] rs1135253 1 26377880 [A/G] NM_032588 TRIM63 EXON Silent variant.1841 1 26380384 [T/C] NM_032588 TRIM63 EXON Missense_G351R exm33781 1 26380423 [A/C] NM_032588 TRIM63 EXON Missense_D338Y rs2275947 1 26383875 [A/G] NM_032588 TRIM63 Silent exm33794 1 26384907 [T/C] NM_032588 TRIM63 EXON Missense_E269K exm33796 1 26384973 [A/G] NM_032588 TRIM63 EXON Nonsense_Q247X exm33805 1 26385059 [A/G] NM_032588 TRIM63 EXON Missense_A218V exm2233040 1 26386806 [T/C] NM_032588 TRIM63 EXON Missense_R183H exm33828 1 26387820 [A/G] NM_032588 TRIM63 EXON Missense_P113L exm33837 1 26392867 [T/C] NM_032588 TRIM63 EXON Missense_C75Y exm33838 1 26392870 [T/C] NM_032588 TRIM63 EXON Missense_R74H exm33841 1 26392921 [A/G] NM_032588 TRIM63 EXON Missense_P57L exm33843 1 26393826 [T/C] NM_032588 TRIM63 Silent exm33845 1 26393843 [A/G] NM_032588 TRIM63 EXON Missense_A48V rs3008419 1 26402820 [A/C] rs12069719 1 26411918 [A/G] rs2802314 1 26431337 [T/C] indel.1848 1 26441071 [D/I] NM_001243532,NM_001243533,NM_152835 PDIK1L,PDIK1L,PDIK1L EXON rs17257107 1 26448447 [A/G] NM_001243532,NM_001243533,NM_152835 PDIK1L,PDIK1L,PDIK1L EXON Synonymous_K135K,Synonymous_K135K,Synonymous_K135K exm2273320 1 26450009 [T/C] NM_001243532,NM_001243533,NM_152835 PDIK1L,PDIK1L,PDIK1L EXON Silent,Silent,Silent rs868551 1 26475521 [A/G] exm33878 1 26487895 [A/G] NM_024869 FAM110D EXON Missense_R38Q rs10794523 1 26493171 [A/G] NM_001364669,NM_001364667 C1orf232,C1orf232 Silent,Silent rs10794524 1 26493240 [T/C] NM_001364669,NM_001364667 C1orf232,C1orf232 Silent,Silent rs2232648 1 26496455 [T/C] NM_015871 ZNF593 EXON Silent exm33906 1 26496491 [A/G] NM_015871 ZNF593 EXON Missense_R6Q variant.1850 1 26496971 [T/G] NM_015871 ZNF593 EXON Missense_R88M rs2783633 1 26505265 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 Silent,Silent,Silent exm33943 1 26507075 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_G62S,Silent,Missense_G62S exm33945 1 26507222 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_T76I,Silent,Missense_T76I exm1782552 1 26507260 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_A89T,Silent,Missense_A89T exm33951 1 26507327 [A/T] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_V111D,Silent,Missense_V111D exm33962 1 26508416 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_S154N,Silent,Missense_S154N exm33979 1 26509049 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_E200K,Silent,Missense_E200K exm33983 1 26509070 [C/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_P207A,Silent,Missense_P207A exm33995 1 26509900 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_V250M,Silent,Missense_V250M exm34003 1 26510299 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_P285L,Missense_P20L,Missense_P278L exm34008 1 26510563 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_T293M,Missense_T28M,Missense_T286M exm2233045 1 26510721 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_V322I,Missense_V57I,Missense_V315I exm34024 1 26510940 [A/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_P357Q,Missense_P92Q,Missense_P350Q exm34041 1 26511622 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R425H,Missense_R160H,Missense_R418H variant.1866 1 26513733 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 Silent,Silent,Silent exm34048 1 26513940 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_I481T,Missense_I216T,Missense_I474T exm34052 1 26514732 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R495C,Missense_R230C,Missense_R488C exm34053 1 26514762 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Nonsense_Q505X,Nonsense_Q240X,Nonsense_Q498X exm34057 1 26514790 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R514Q,Missense_R249Q,Missense_R507Q exm34069 1 26515261 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 Silent,Silent,Silent exm34070 1 26515264 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Synonymous_D571D,Synonymous_D306D,Synonymous_D564D exm34072 1 26515307 [A/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_Q586K,Missense_Q321K,Missense_Q579K exm34076 1 26515337 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Nonsense_Q596X,Nonsense_Q331X,Nonsense_Q589X exm34084 1 26515416 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R622H,Missense_R357H,Missense_R615H exm34088 1 26515840 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R655H,Missense_R390H,Missense_R648H exm34089 1 26515860 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R662W,Missense_R397W,Missense_R655W exm34093 1 26515956 [A/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_H694N,Missense_H429N,Missense_H687N exm34094 1 26515965 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_P697S,Missense_P432S,Missense_P690S rs4659411 1 26516845 [T/C] exm34106 1 26517216 [A/G] NM_198137 CATSPER4 EXON Missense_G33E exm34111 1 26517267 [A/G] NM_198137 CATSPER4 EXON Missense_H50R exm1782644 1 26517309 [A/G] NM_198137 CATSPER4 EXON Missense_R64H exm34121 1 26517793 [T/C] NM_198137 CATSPER4 EXON Nonsense_Q77X exm34122 1 26517794 [A/G] NM_198137 CATSPER4 EXON Missense_Q77R exm34124 1 26517811 [A/G] NM_198137 CATSPER4 EXON Missense_M83V rs11247867 1 26517891 [T/C] NM_198137 CATSPER4 EXON Synonymous_I109I exm34128 1 26517908 [C/G] NM_198137 CATSPER4 EXON Missense_S115C exm34136 1 26520292 [T/G] NM_198137 CATSPER4 EXON Missense_L124F exm34141 1 26520354 [T/C] NM_198137 CATSPER4 EXON Missense_L145P exm-rs11809207 1 26521140 [A/G] NM_198137 CATSPER4 Silent rs12732367 1 26522723 [A/G] NM_198137 CATSPER4 Silent exm34145 1 26524246 [A/G] NM_198137 CATSPER4 EXON Missense_N177D exm34149 1 26524450 [T/C] NM_198137 CATSPER4 EXON Missense_A187V exm34151 1 26524456 [A/G] NM_198137 CATSPER4 EXON Missense_R189H exm34158 1 26524534 [T/C] NM_198137 CATSPER4 EXON Missense_A215V rs9970046 1 26524706 [A/G] NM_198137 CATSPER4 Silent exm34177 1 26526375 [A/G] NM_198137 CATSPER4 EXON Synonymous_Q271Q exm34178 1 26526439 [A/G] NM_198137 CATSPER4 EXON Missense_I293V exm2233048 1 26526539 [A/C] NM_198137 CATSPER4 EXON Missense_T326N rs12145714 1 26527255 [A/G] NM_198137 CATSPER4 Silent exm34187 1 26527325 [A/G] NM_198137 CATSPER4 EXON Missense_G331D exm1782677 1 26527913 [C/G] NM_198137 CATSPER4 EXON Missense_S423W exm34208 1 26527925 [A/G] NM_198137 CATSPER4 EXON Missense_G427E exm34212 1 26527951 [A/G] NM_198137 CATSPER4 EXON Missense_D436N exm34213 1 26527977 [A/C] NM_198137 CATSPER4 EXON Missense_Q444H rs4659413 1 26547375 [T/C] rs3795687 1 26560745 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Silent,Silent,Silent exm34219 1 26566299 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_T9A,Missense_T9A,Missense_T9A exm34221 1 26570657 [T/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_S19I,Silent,Missense_S19I exm34226 1 26570744 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_R48H,Silent,Missense_R48H indel.1881 1 26570763 [D/I] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON exm34234 1 26581859 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_G136S,Missense_G85S,Missense_G136S exm34236 1 26581883 [G/C] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_L144V,Missense_L93V,Missense_L144V exm34240 1 26581916 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_T155A,Missense_T104A,Missense_T155A exm2251133 1 26581981 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Synonymous_A176A,Synonymous_A125A,Synonymous_A176A exm34244 1 26582075 [T/C] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_H208Y,Missense_H157Y,Missense_H208Y exm34246 1 26582091 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_S213N,Missense_S162N,Missense_S213N exm1782819 1 26582312 [T/C] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_R287W,Missense_R236W,Missense_R287W exm34256 1 26582340 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_Q296R,Missense_Q245R,Missense_Q296R exm34262 1 26584144 [A/C] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Synonymous_I320I,Synonymous_I269I,Synonymous_I320I exm2251134 1 26584144 [A/C] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Synonymous_I320I,Synonymous_I269I,Synonymous_I320I exm34268 1 26584731 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_V379I,Missense_V328I,Missense_V379I exm34271 1 26586135 [T/C] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_R395C,Missense_R344C,Missense_R395C exm34276 1 26586167 [T/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_L405F,Missense_L354F,Missense_L405F exm34289 1 26596080 [A/G] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_A542T,Missense_A491T,Missense_A542T,Silent rs7550997 1 26596080 [A/G] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_A542T,Missense_A491T,Missense_A542T,Silent exm1782840 1 26596095 [A/G] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_A547T,Missense_A496T,Missense_A547T,Silent rs12096059 1 26596709 [A/G] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 Silent,Silent,Silent,Silent exm34291 1 26597519 [A/G] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_Q555R,Missense_Q504R,Missense_Q555R,Silent exm34292 1 26597521 [T/G] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_S556A,Missense_S505A,Missense_S556A,Silent newrs142714882 1 26598562 [T/G] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_Q598H,Missense_Q547H,Missense_Q598H,Missense_Q30H exm34300 1 26598562 [T/G] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_Q598H,Missense_Q547H,Missense_Q598H,Missense_Q30H exm34307 1 26603090 [T/C] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_A656V,Missense_A605V,Missense_A656V,Missense_A88V exm34323 1 26607302 [A/G] NM_031286 SH3BGRL3 EXON Missense_R32H exm2233051 1 26607406 [A/G] NM_031286 SH3BGRL3 EXON Missense_G67R exm2251136 1 26607563 [T/C] NM_031286 SH3BGRL3 EXON Synonymous_F77F exm34376 1 26608896 [G/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_C486S,Missense_C366S,Missense_C453S exm1782881 1 26609029 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_S442G,Missense_S322G,Missense_S409G exm1782884 1 26609233 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_R400H,Missense_R280H,Missense_R367H exm34405 1 26610881 [G/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_K315N,Missense_K195N,Missense_K282N exm34406 1 26610891 [A/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_L312R,Missense_L192R,Missense_L279R exm34412 1 26610961 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_R289C,Missense_R169C,Missense_R256C exm34416 1 26611971 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_N279S,Missense_N159S,Missense_N246S exm34418 1 26612032 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_R259C,Missense_R139C,Missense_R226C exm34427 1 26612475 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Nonsense_Q205X,Nonsense_Q85X,Nonsense_Q172X rs4233458 1 26615616 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 Silent,Silent,Silent exm34430 1 26620735 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_E174K,Silent,Missense_E141K exm34431 1 26620761 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_E165G,Silent,Missense_E132G exm34433 1 26620806 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_Y150C,Silent,Missense_Y117C rs6681452 1 26621101 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 Silent,Silent,Silent rs7541416 1 26622911 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 Silent,Silent,Silent exm34445 1 26623935 [T/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_T113N,Silent,Missense_T80N exm34446 1 26623939 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Nonsense_Q112X,Silent,Nonsense_Q79X exm34448 1 26624467 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_E96K,Silent,Missense_E63K exm34449 1 26624479 [A/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_A92S,Silent,Missense_A59S exm34452 1 26627423 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_R65W,Missense_R65W,Silent rs2276712 1 26627478 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Synonymous_S46S,Synonymous_S46S,Silent exm34457 1 26627479 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_S46L,Missense_S46L,Silent exm2233053 1 26628186 [A/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_D33E,Missense_D33E,Missense_D33E exm34469 1 26629304 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_G24E,Missense_G24E,Missense_G24E exm34470 1 26629322 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_S18L,Missense_S18L,Missense_S18L variant.1903 1 26629341 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Nonsense_R12X,Nonsense_R12X,Nonsense_R12X exm34477 1 26644537 [A/C] NM_145345,NM_001803 UBXN11,CD52 EXON Silent,Missense_T10N exm34488 1 26646730 [A/G] NM_001803 CD52 EXON Missense_I41M exm34491 1 26646783 [A/G] NM_001803 CD52 EXON Missense_C59Y exm2273321 1 26648381 [T/C] NM_001039775 CRYBG2 EXON Silent exm34499 1 26648530 [A/G] NM_001039775 CRYBG2 EXON Missense_R1639W exm34506 1 26648684 [A/G] NM_001039775 CRYBG2 EXON Missense_M1623T exm34508 1 26648705 [A/G] NM_001039775 CRYBG2 EXON Missense_S1616L exm34524 1 26650711 [C/G] NM_001039775 CRYBG2 EXON Missense_V1557L exm2251139 1 26650772 [T/C] NM_001039775 CRYBG2 EXON Synonymous_A1536A exm34529 1 26650786 [A/G] NM_001039775 CRYBG2 EXON Missense_R1532C exm34532 1 26650800 [T/C] NM_001039775 CRYBG2 EXON Missense_R1527H exm34538 1 26654776 [A/C] NM_001039775 CRYBG2 EXON Missense_V1501G exm34539 1 26654788 [T/C] NM_001039775 CRYBG2 EXON Missense_R1497H rs11247916 1 26655208 [T/C] NM_001039775 CRYBG2 Silent exm34552 1 26655304 [C/G] NM_001039775 CRYBG2 EXON Missense_E1459Q exm34554 1 26655319 [C/G] NM_001039775 CRYBG2 EXON Missense_E1454Q exm34556 1 26655327 [T/G] NM_001039775 CRYBG2 EXON Missense_E1451A exm34561 1 26658011 [A/G] NM_001039775 CRYBG2 EXON Missense_T1428I rs4659431 1 26658391 [A/C] NM_001039775 CRYBG2 Silent exm2263818 1 26659503 [A/C] NM_001039775 CRYBG2 Silent exm34583 1 26663362 [T/C] NM_001039775 CRYBG2 EXON Missense_S1294N exm34584 1 26663416 [T/C] NM_001039775 CRYBG2 EXON Missense_G1276D exm34585 1 26663417 [T/C] NM_001039775 CRYBG2 EXON Missense_G1276S exm34590 1 26663749 [A/G] NM_001039775 CRYBG2 EXON Missense_R1256W exm34593 1 26663842 [A/G] NM_001039775 CRYBG2 EXON Missense_R1225W exm34600 1 26664113 [T/C] NM_001039775 CRYBG2 EXON Missense_R1187Q exm34614 1 26664907 [A/C] NM_001039775 CRYBG2 EXON Missense_Y1136D rs11247919 1 26664968 [T/C] NM_001039775 CRYBG2 EXON Synonymous_L1115L exm34617 1 26664968 [T/C] NM_001039775 CRYBG2 EXON Synonymous_L1115L exm34625 1 26665873 [G/C] NM_001039775 CRYBG2 EXON Missense_K1084N variant.1916 1 26665922 [T/C] NM_001039775 CRYBG2 Silent exm34630 1 26669273 [G/C] NM_001039775 CRYBG2 EXON Missense_G1059A exm1783186 1 26669607 [T/C] NM_001039775 CRYBG2 EXON Missense_E1002G exm34638 1 26670444 [T/G] NM_001039775 CRYBG2 EXON Missense_S902Y exm34640 1 26670609 [T/C] NM_001039775 CRYBG2 EXON Missense_R847H exm34641 1 26670656 [A/C] NM_001039775 CRYBG2 EXON Missense_E831D exm34644 1 26670781 [A/G] NM_001039775 CRYBG2 EXON Missense_R790C exm34648 1 26670948 [A/G] NM_001039775 CRYBG2 EXON Missense_T734M exm2233057 1 26671002 [T/G] NM_001039775 CRYBG2 EXON Missense_S716Y exm2233058 1 26671006 [A/C] NM_001039775 CRYBG2 EXON Missense_V715L exm34651 1 26671084 [T/G] NM_001039775 CRYBG2 EXON Missense_P689T exm34652 1 26671144 [T/C] NM_001039775 CRYBG2 EXON Missense_I669V exm34653 1 26671248 [A/G] NM_001039775 CRYBG2 EXON Missense_V634A exm34664 1 26671533 [T/G] NM_001039775 CRYBG2 EXON Missense_D539A exm34680 1 26671920 [G/C] NM_001039775 CRYBG2 EXON Missense_S410T exm34689 1 26672187 [A/G] NM_001039775 CRYBG2 EXON Missense_P321L exm34692 1 26672265 [A/C] NM_001039775 CRYBG2 EXON Missense_G295V exm34697 1 26672364 [T/C] NM_001039775 CRYBG2 EXON Missense_R262K exm34704 1 26672459 [T/G] NM_001039775 CRYBG2 EXON Missense_S230R exm34720 1 26672838 [A/G] NM_001039775 CRYBG2 EXON Missense_P104L exm34732 1 26673108 [T/C] NM_001039775 CRYBG2 EXON Missense_R14Q rs7535656 1 26673466 [A/C] NM_001039775 CRYBG2 Silent rs11582416 1 26677721 [T/C] NM_001039775 CRYBG2 Silent exm1783328 1 26688125 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Silent,Silent,Silent exm34735 1 26688173 [A/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_P495L,Missense_P495L,Missense_P515L exm34739 1 26688208 [T/A] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_K483N,Missense_K483N,Missense_K503N exm34751 1 26688381 [A/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_R426W,Missense_R426W,Missense_R446W exm34759 1 26688464 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_R398H,Missense_R398H,Missense_R418H rs12030833 1 26689220 [A/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 Silent,Silent,Silent variant.1924 1 26689517 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Synonymous_S381S,Synonymous_S381S,Synonymous_S381S rs7547496 1 26690481 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 Silent,Silent,Silent exm34778 1 26691174 [A/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_R288L,Missense_R288L,Missense_R288L rs11247933 1 26691174 [A/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_R288L,Missense_R288L,Missense_R288L exm34781 1 26691207 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_G277E,Missense_G277E,Missense_G277E exm34784 1 26691261 [A/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_A259V,Missense_A259V,Missense_A259V exm34794 1 26691310 [C/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_L243V,Missense_L243V,Missense_L243V exm34796 1 26691351 [T/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_P229H,Missense_P229H,Missense_P229H exm34800 1 26691445 [A/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_L198F,Missense_L198F,Missense_L198F exm34801 1 26691448 [T/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_P197T,Missense_P197T,Missense_P197T exm34802 1 26691466 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_A191T,Missense_A191T,Missense_A191T exm34807 1 26691637 [C/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_L134V,Missense_L134V,Missense_L134V exm34815 1 26694118 [T/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_D95E,Missense_D95E,Missense_D95E exm34822 1 26694245 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_H53R,Missense_H53R,Missense_H53R exm34824 1 26694260 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_D48G,Missense_D48G,Missense_D48G exm34827 1 26694968 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_Q32R,Missense_Q32R,Missense_Q32R exm34832 1 26694998 [A/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_G22V,Missense_G22V,Missense_G22V indel.1928 1 26695025 [D/I] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON rs11247937 1 26699157 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 Silent,Silent,Silent rs11247940 1 26709040 [A/C] rs7529342 1 26709504 [T/C] rs12137896 1 26712597 [T/C] rs12043608 1 26714161 [T/C] rs11247946 1 26719115 [T/C] rs11587947 1 26719264 [T/C] rs9438621 1 26722384 [A/G] exm2260105 1 26722384 [A/G] rs12122703 1 26735773 [A/G] exm-rs7532866 1 26741544 [A/G] NM_024674 LIN28A Silent rs6683792 1 26743903 [T/C] NM_024674 LIN28A Silent rs11581746 1 26744087 [T/C] NM_024674 LIN28A Silent rs35015532 1 26752129 [A/G] NM_024674 LIN28A Silent exm34895 1 26752885 [T/C] NM_024674 LIN28A EXON Missense_T189I exm34904 1 26764719 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_K42E,Missense_K42E,Missense_K42E,Missense_K42E,Silent exm34905 1 26764735 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_R47Q,Missense_R47Q,Missense_R47Q,Missense_R47Q,Silent rs11584995 1 26770999 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS Silent,Silent,Silent,Silent,Silent exm1783585 1 26774050 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Synonymous_K147K,Silent,Synonymous_K147K,Synonymous_K108K,Synonymous_K54K rs9438551 1 26775223 [T/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS Silent,Silent,Silent,Silent,Silent exm34965 1 26786627 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_V253M,Missense_V219M,Missense_V253M,Missense_V214M,Missense_V160M rs3816539 1 26786627 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_V253M,Missense_V219M,Missense_V253M,Missense_V214M,Missense_V160M exm34971 1 26795528 [T/C] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_S304L,Missense_S269L,Missense_S303L,Missense_S264L,Missense_S210L variant.1932 1 26800309 [A/G] NM_005517 HMGN2 Silent rs12741800 1 26802548 [T/C] NM_005517 HMGN2 EXON Silent rs4659375 1 26804090 [A/G] kgp7884818 1 26809402 [A/G] rs11247963 1 26855401 [A/G] exm35011 1 26863453 [T/C] NM_002953 RPS6KA1 EXON Missense_P34L rs10493038 1 26865688 [A/G] NM_002953 RPS6KA1 Silent exm35019 1 26872452 [A/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Silent,Silent,Missense_R21G rs17162190 1 26872832 [A/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 Silent,Silent,Silent rs2278978 1 26873245 [A/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 Silent,Silent,Silent exm35062 1 26883511 [A/C] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Missense_K335T,Missense_K319T,Missense_K344T exm35065 1 26883580 [A/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Missense_R358H,Missense_R342H,Missense_R367H exm35074 1 26885366 [A/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Missense_G385S,Missense_G369S,Missense_G394S rs1064196 1 26887592 [T/C] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Synonymous_Y466Y,Synonymous_Y450Y,Synonymous_Y475Y exm2251154 1 26888016 [T/C] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Synonymous_H484H,Synonymous_H468H,Synonymous_H493H exm35088 1 26888092 [T/C] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Missense_R510W,Missense_R494W,Missense_R519W exm35099 1 26898393 [T/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Missense_I602M,Missense_I586M,Missense_I611M rs2229714 1 26900708 [A/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Silent,Silent,Silent exm2251156 1 26909765 [T/C] rs17162247 1 26924308 [A/G] kgp9307817 1 26926993 [T/C] rs17162257 1 26929002 [T/G] rs4466675 1 27020012 [T/C] NR_135804 LOC101928728 EXON Silent rs6598860 1 27021684 [A/G] rs9701825 1 27031943 [T/C] NM_139135,NM_006015 ARID1A,ARID1A Silent,Silent rs11247593 1 27052080 [A/G] NM_139135,NM_006015 ARID1A,ARID1A Silent,Silent exm35140 1 27056179 [A/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_P392H,Missense_P392H exm35174 1 27087917 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_S735N,Missense_S735N exm35181 1 27088784 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_P798L,Missense_P798L exm35196 1 27089659 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_M872T,Missense_M872T exm35200 1 27089712 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_M890V,Missense_M890V exm35201 1 27089742 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_A900T,Missense_A900T exm35204 1 27092729 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_N917S,Missense_N917S exm35209 1 27092804 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_N942S,Missense_N942S exm2233076 1 27094338 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_G1016S,Missense_G1016S exm35217 1 27097653 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_N1081S,Missense_N1081S exm35219 1 27098992 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Synonymous_A1136A,Synonymous_A1136A exm2233077 1 27099881 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_G1254S,Missense_G1254S exm35244 1 27100077 [T/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_E1291D,Missense_E1291D exm35249 1 27100142 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_N1313S,Missense_N1313S exm35277 1 27101282 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Silent,Missense_A1522T exm2233080 1 27101469 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Silent,Missense_Q1584R exm2251168 1 27101584 [G/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Synonymous_A1405A,Synonymous_A1622A exm35293 1 27101597 [C/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_P1410A,Missense_P1627A exm35305 1 27102188 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_N1488S,Missense_N1705S exm35308 1 27105655 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_P1539S,Missense_P1756S exm1784676 1 27105700 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_P1554S,Missense_P1771S exm35311 1 27105725 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_E1562G,Missense_E1779G exm2233081 1 27105838 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_V1600I,Missense_V1817I exm35318 1 27105880 [G/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_L1614V,Missense_L1831V exm2233082 1 27106004 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_A1655V,Missense_A1872V exm35328 1 27106106 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_R1689Q,Missense_R1906Q exm35331 1 27106168 [C/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_A1710P,Missense_A1927P exm35333 1 27106333 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_V1765I,Missense_V1982I rs11578640 1 27109160 [T/G] exm35369 1 27120619 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_I32V,Missense_I32V exm35370 1 27120626 [T/C] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_P34L,Missense_P34L exm35373 1 27120671 [A/C] NM_017837,NM_001202554 PIGV,PIGV EXON Nonsense_S49X,Nonsense_S49X exm35378 1 27120874 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_I117V,Missense_I117V exm35385 1 27120998 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_S158N,Missense_S158N variant.1938 1 27121019 [A/C] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_A165E,Missense_A165E exm35401 1 27121505 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_N327S,Missense_N327S exm35405 1 27121571 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_H349R,Missense_H349R exm35411 1 27124130 [T/C] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_P426L,Missense_P426L exm35417 1 27124222 [T/C] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_L457F,Missense_L457F exm-rs12748152 1 27138393 [T/C] rs7527776 1 27164335 [T/C] NM_032283 ZDHHC18 Silent exm35442 1 27176902 [A/G] NM_032283 ZDHHC18 EXON Missense_A253T exm35454 1 27177696 [A/G] NM_032283 ZDHHC18 EXON Missense_A304T variant.1941 1 27177722 [T/C] NM_032283 ZDHHC18 EXON Synonymous_D312D exm35455 1 27177723 [A/G] NM_032283 ZDHHC18 Silent rs10902645 1 27179062 [T/G] NM_032283 ZDHHC18 Silent exm35457 1 27179274 [T/G] NM_032283 ZDHHC18 EXON Missense_G323C exm35465 1 27180248 [A/G] NM_032283 ZDHHC18 EXON Missense_D361N rs10902646 1 27182984 [T/G] exm35479 1 27190149 [T/C] NM_006142 SFN EXON Missense_S149L exm1784809 1 27190186 [G/C] NM_006142 SFN EXON Missense_E161D exm35480 1 27190196 [T/A] NM_006142 SFN EXON Missense_T165S exm35496 1 27210667 [T/C] NM_018066 GPN2 EXON Missense_D282N exm35497 1 27210676 [T/C] NM_018066 GPN2 EXON Missense_M279V newrs149255985 1 27210706 [A/G] NM_018066 GPN2 EXON Nonsense_R269X exm35504 1 27210762 [T/C] NM_018066 GPN2 EXON Missense_R250Q exm35509 1 27212513 [T/C] NM_018066 GPN2 EXON Missense_Q227R exm35511 1 27212526 [T/C] NM_018066 GPN2 EXON Missense_E223K exm35520 1 27215478 [T/C] NM_018066 GPN2 EXON Missense_E184K exm35525 1 27216194 [T/C] NM_018066 GPN2 EXON Missense_A132T exm35527 1 27216278 [T/C] NM_018066 GPN2 EXON Missense_G104S exm1785011 1 27219004 [T/C] NM_022078 GPATCH3 EXON Missense_R420Q exm1785012 1 27219019 [T/C] NM_022078 GPATCH3 EXON Missense_R415Q exm35569 1 27219192 [T/C] NM_022078 GPATCH3 EXON Missense_R401H exm35570 1 27219196 [T/C] NM_022078 GPATCH3 EXON Missense_E400K variant.1948 1 27219880 [T/C] NM_022078 GPATCH3 EXON Missense_D371N rs11810321 1 27220521 [T/G] NM_022078 GPATCH3 Silent exm35579 1 27220834 [T/C] NM_022078 GPATCH3 EXON Missense_R315Q exm35580 1 27220844 [T/C] NM_022078 GPATCH3 EXON Missense_G312R exm35582 1 27220864 [A/G] NM_022078 GPATCH3 EXON Missense_A305V exm35583 1 27220873 [A/C] NM_022078 GPATCH3 EXON Missense_R302L rs1152981 1 27221700 [T/C] NM_022078 GPATCH3 Silent exm35585 1 27223792 [T/C] NM_022078 GPATCH3 EXON Synonymous_E292E newrs148453803 1 27223792 [T/C] NM_022078 GPATCH3 EXON Synonymous_E292E exm2233087 1 27223826 [T/C] NM_022078 GPATCH3 EXON Missense_G281E exm35591 1 27223967 [T/C] NM_022078 GPATCH3 EXON Missense_N234S exm35593 1 27223977 [A/G] NM_022078 GPATCH3 EXON Missense_R231C exm35601 1 27224070 [A/G] NM_022078 GPATCH3 EXON Missense_R200W exm35603 1 27224123 [A/G] NM_022078 GPATCH3 EXON Missense_P182L exm35606 1 27224190 [A/G] NM_022078 GPATCH3 EXON Missense_R160W exm35611 1 27226569 [A/G] NM_022078 GPATCH3 EXON Missense_S122L exm35620 1 27226797 [C/G] NM_022078 GPATCH3 EXON Missense_C46S exm35621 1 27226817 [G/C] NM_022078 GPATCH3 EXON Missense_E39D exm35622 1 27226830 [T/C] NM_022078 GPATCH3 EXON Missense_Q35R exm35628 1 27226912 [A/C] NM_022078 GPATCH3 EXON Nonsense_E8X exm35633 1 27238451 [A/G] NM_021969 NR0B2 EXON Missense_T220M exm1785102 1 27238544 [T/C] NM_021969 NR0B2 EXON Missense_G189E exm35641 1 27238557 [T/C] NM_021969 NR0B2 EXON Missense_A185T exm35644 1 27239920 [G/C] NM_021969 NR0B2 EXON Missense_G171A exm35648 1 27239959 [T/C] NM_021969 NR0B2 EXON Missense_S158N exm35658 1 27240089 [A/G] NM_021969 NR0B2 EXON Missense_P115S exm35664 1 27240262 [T/C] NM_021969 NR0B2 EXON Missense_R57Q exm35665 1 27240272 [A/G] NM_021969 NR0B2 EXON Missense_R54C exm35668 1 27240298 [T/C] NM_021969 NR0B2 EXON Missense_R45Q exm35672 1 27240332 [C/G] NM_021969 NR0B2 EXON Missense_R34G exm35673 1 27240419 [C/G] NM_021969 NR0B2 EXON Missense_Q5E rs11581460 1 27242009 [A/G] rs12088151 1 27246459 [T/C] exm35682 1 27250580 [G/C] NM_006600 NUDC EXON Missense_L28V rs17162351 1 27267042 [T/G] NM_006600 NUDC Silent exm1785175 1 27267996 [C/G] NM_006600 NUDC EXON Missense_R70G exm35688 1 27267997 [A/G] NM_006600 NUDC EXON Missense_R70Q exm2251177 1 27268282 [T/C] NM_006600 NUDC EXON Synonymous_N134N exm35700 1 27268299 [T/C] NM_006600 NUDC EXON Missense_P140L exm35711 1 27269429 [A/G] NM_006600 NUDC EXON Missense_R205Q exm35724 1 27272638 [T/C] NM_006600 NUDC EXON Missense_P321L exm35728 1 27276604 [T/C] NM_152365 KDF1 EXON Missense_D385N exm35731 1 27276619 [A/G] NM_152365 KDF1 EXON Missense_S380P exm35738 1 27277916 [T/C] NM_152365 KDF1 EXON Missense_R319H variant.1966 1 27278168 [A/G] NM_152365 KDF1 EXON Missense_S235L exm35746 1 27278215 [T/G] NM_152365 KDF1 EXON Missense_F219L exm35757 1 27278306 [T/C] NM_152365 KDF1 EXON Missense_K189R exm35762 1 27278439 [A/G] NM_152365 KDF1 EXON Missense_R145W rs3010110 1 27278521 [A/G] NM_152365 KDF1 EXON Synonymous_D117D exm35768 1 27278552 [T/C] NM_152365 KDF1 EXON Missense_R107Q exm35769 1 27278553 [A/G] NM_152365 KDF1 EXON Missense_R107W exm35771 1 27278570 [T/C] NM_152365 KDF1 EXON Missense_R101H exm35772 1 27278573 [T/C] NM_152365 KDF1 EXON Missense_Q100R exm35777 1 27278612 [T/C] NM_152365 KDF1 EXON Missense_R87Q exm35778 1 27278613 [A/G] NM_152365 KDF1 EXON Missense_R87W exm35780 1 27278672 [A/G] NM_152365 KDF1 EXON Missense_P67L exm35789 1 27278819 [A/G] NM_152365 KDF1 EXON Missense_P18L rs17356923 1 27282676 [A/G] NM_152365 KDF1 Silent rs12742376 1 27285195 [T/C] NM_152365 KDF1 Silent exm35805 1 27332466 [T/C] NM_052943 TENT5B EXON Missense_H416R exm2251179 1 27332504 [T/G] NM_052943 TENT5B EXON Synonymous_V403V exm35815 1 27332637 [T/G] NM_052943 TENT5B EXON Missense_N359T exm35816 1 27332670 [T/C] NM_052943 TENT5B EXON Missense_R348Q exm35817 1 27332701 [A/G] NM_052943 TENT5B EXON Missense_R338C exm35831 1 27332983 [T/C] NM_052943 TENT5B EXON Missense_T244A exm35842 1 27333229 [T/C] NM_052943 TENT5B EXON Missense_A162T exm35846 1 27333309 [T/C] NM_052943 TENT5B EXON Missense_R135H exm35848 1 27333409 [C/G] NM_052943 TENT5B EXON Missense_H102D rs2993066 1 27358792 [T/C] rs568533 1 27372924 [T/G] rs537951 1 27374218 [A/G] rs2256674 1 27375717 [A/G] rs479067 1 27375997 [T/C] kgp172599 1 27377401 [A/G] rs5810 1 27426219 [A/G] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Silent exm35863 1 27426875 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_I791V exm35867 1 27426971 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_D759N exm35869 1 27426974 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_D758N exm35872 1 27427009 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_R746Q exm35895 1 27428621 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Synonymous_Q607Q exm2251185 1 27428971 [C/G] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Synonymous_A575A exm35939 1 27436163 [A/G] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_L307F exm35942 1 27436223 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_G287S rs6696706 1 27477549 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 Silent,Silent exm35968 1 27480600 [A/G] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_H76Y rs12402451 1 27488299 [T/C] rs6687674 1 27537101 [A/G] rs10902652 1 27558522 [T/C] rs6598879 1 27586900 [A/G] NM_015023,NM_001276252 WDTC1,WDTC1 Silent,Silent exm35980 1 27589698 [A/G] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_R35Q,Missense_R35Q exm35994 1 27614187 [A/G] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_R105H,Missense_R105H exm36012 1 27621022 [A/C] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_L259I,Missense_L259I exm36016 1 27622832 [T/A] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_L297M,Missense_L297M exm36041 1 27627950 [G/C] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_G488A,Missense_G489A exm36048 1 27630135 [A/G] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_G497S,Missense_G498S exm36051 1 27630147 [T/C] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_R501C,Missense_R502C exm36065 1 27632690 [C/G] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_T616R,Missense_T617R rs4970518 1 27647082 [T/C] exm36076 1 27648771 [A/C] NR_037580,NR_037576,NR_037577,NM_032125 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Silent,Missense_T28K exm36078 1 27648785 [A/G] NR_037580,NR_037576,NR_037577,NM_032125 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Silent,Missense_D33N exm36086 1 27660486 [A/G] NR_037580,NR_037576,NR_037577,NM_032125 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Silent,Missense_G117R exm36095 1 27660742 [T/G] NR_037580,NR_037576,NR_037577,NM_032125 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Silent,Missense_F170C exm36097 1 27660768 [A/G] NR_037580,NR_037576,NR_037577,NM_032125 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Silent,Missense_V179I rs12565684 1 27661037 [T/C] NR_037580,NR_037576,NR_037577,NM_032125 TMEM222,TMEM222,TMEM222,TMEM222 Silent,Silent,Silent,Silent exm36106 1 27661931 [A/G] NR_037580,NR_037576,NR_037577,NM_032125 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Silent,Missense_V201I exm36113 1 27671986 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_R54H,Missense_R54H exm36120 1 27673983 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_R88H,Missense_R88H exm36121 1 27674003 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_A95T,Missense_A95T exm1785769 1 27674319 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_D121N,Missense_D121N exm36133 1 27674334 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_A126T,Missense_A126T exm36135 1 27674366 [T/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_E136D,Missense_E136D exm1785790 1 27677375 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_E354K,Missense_E366K exm36170 1 27677409 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_G365D,Missense_G377D rs11247639 1 27679692 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 Silent,Silent exm36182 1 27679778 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_V438M,Missense_V450M exm2273628 1 27679805 [T/C] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_R447C,Missense_R459C exm36189 1 27679890 [T/C] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_L475P,Missense_L487P exm36193 1 27679979 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_G505S,Missense_G517S exm1785817 1 27682217 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_T1244I,Missense_T1236I exm36225 1 27682530 [G/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_G1233A,Missense_G1225A exm36238 1 27683127 [A/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_A1160S,Missense_A1152S exm36243 1 27683180 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_Q1142R,Missense_Q1134R exm36261 1 27684006 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_H1048R,Missense_H1040R exm36267 1 27684213 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_K1024E,Missense_K1016E exm36273 1 27684329 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_P985L,Missense_P977L exm36274 1 27684338 [C/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_P982R,Missense_P974R exm1785842 1 27684715 [T/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_P958T,Missense_P950T exm36282 1 27684750 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_P946L,Missense_P938L exm36284 1 27684772 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_T939A,Missense_T931A exm36292 1 27684948 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_R913H,Missense_R905H exm36323 1 27686464 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_R735Q,Missense_R727Q exm36334 1 27687248 [G/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_R668G,Missense_R660G exm36338 1 27687309 [G/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_E647D,Missense_E639D exm36344 1 27687466 [T/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_N622K,Missense_N614K exm36363 1 27688031 [C/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_L556V,Missense_L548V exm36370 1 27688279 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_R499C,Missense_R491C exm36377 1 27688593 [T/A] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_N468K,Missense_N460K exm36378 1 27688633 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_T455I,Missense_T447I exm1785874 1 27688717 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_A427V,Missense_A419V exm36384 1 27688743 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 Silent,Silent exm36387 1 27689225 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_V388I,Missense_V380I exm36390 1 27689360 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_R375Q,Missense_R367Q exm36391 1 27689370 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_A372T,Missense_A364T exm36394 1 27689397 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_M363V,Missense_M355V exm36396 1 27689438 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_A349V,Missense_A341V exm2251194 1 27689476 [A/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Synonymous_S336S,Synonymous_S328S rs4525067 1 27689763 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 Silent,Silent exm36405 1 27690032 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_S291L,Missense_S283L exm36411 1 27690482 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_R264W,Missense_R256W exm36420 1 27690770 [A/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_V207G,Missense_V199G exm36422 1 27690792 [A/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_D200Y,Missense_D192Y exm36427 1 27691274 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_Q157R,Missense_Q157R exm36447 1 27695744 [A/G] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_R284W,Missense_R295W exm36450 1 27695767 [A/G] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_V276A,Missense_V287A newrs138304758 1 27695865 [T/C] NM_173452,NM_003665 FCN3,FCN3 EXON Nonsense_W243X,Nonsense_W254X exm36466 1 27697167 [A/G] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_A182V,Missense_A193V exm36472 1 27697359 [C/G] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_E155D,Missense_E166D exm36475 1 27697425 [G/C] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_F133L,Missense_F144L exm36476 1 27697444 [A/T] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_D127V,Missense_D138V exm36480 1 27699626 [T/C] NM_173452,NM_003665 FCN3,FCN3 Silent,Silent exm36484 1 27699644 [T/C] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_E115K,Missense_E126K exm36486 1 27699647 [T/C] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_T114A,Missense_T125A exm36491 1 27699753 [A/G] NM_173452,NM_003665 FCN3,FCN3 EXON Synonymous_G78G,Synonymous_G89G exm36497 1 27699990 [A/C] NM_173452,NM_003665 FCN3,FCN3 EXON Silent,Missense_R85L exm36498 1 27699991 [A/G] NM_173452,NM_003665 FCN3,FCN3 EXON Silent,Missense_R85W exm36500 1 27700455 [T/C] NM_173452,NM_003665 FCN3,FCN3 Silent,Silent exm36506 1 27700924 [T/G] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_A37D,Missense_A37D exm36532 1 27708996 [T/C] NM_207397,NM_001330448 CD164L2,CD164L2 EXON Missense_E84K,Missense_E84K exm36534 1 27709020 [T/C] NM_207397,NM_001330448 CD164L2,CD164L2 EXON Missense_M76V,Missense_M76V exm36536 1 27709044 [T/C] NM_207397,NM_001330448 CD164L2,CD164L2 EXON Missense_R68G,Missense_R68G exm36541 1 27709112 [T/C] NM_207397,NM_001330448 CD164L2,CD164L2 EXON Missense_N45S,Missense_N45S exm36546 1 27709659 [A/G] NM_207397,NM_001330448 CD164L2,CD164L2 EXON Missense_A24V,Missense_A24V exm36551 1 27720382 [G/C] NM_005281 GPR3 EXON Missense_A27G exm36577 1 27720967 [A/G] NM_005281 GPR3 EXON Missense_R222H exm36580 1 27721035 [A/G] NM_005281 GPR3 EXON Missense_G245S exm36592 1 27721276 [A/G] NM_005281 GPR3 EXON Missense_R325H exm36614 1 27736685 [T/G] NM_006990,NM_001201404 WASF2,WASF2 EXON Missense_N280K,Silent exm36622 1 27739150 [A/G] NM_006990,NM_001201404 WASF2,WASF2 EXON Missense_P247L,Missense_P247L indel.2016 1 27744776 [D/I] NM_006990,NM_001201404 WASF2,WASF2 EXON var_1_27745455 1 27745455 [T/C] NM_006990,NM_001201404 WASF2,WASF2 EXON Missense_V89M,Missense_V89M rs2474301 1 27773902 [A/G] NM_006990,NM_001201404 WASF2,WASF2 Silent,Silent rs2480224 1 27775196 [T/C] NM_006990,NM_001201404 WASF2,WASF2 Silent,Silent rs7531313 1 27782390 [T/C] NM_006990,NM_001201404 WASF2,WASF2 Silent,Silent rs6668823 1 27786813 [A/G] NM_006990,NM_001201404 WASF2,WASF2 Silent,Silent rs4075401 1 27836014 [T/G] exm36651 1 27873895 [T/C] NM_001029882 AHDC1 EXON Missense_G1578S exm36661 1 27874024 [T/C] NM_001029882 AHDC1 EXON Missense_A1535T exm36662 1 27874042 [A/G] NM_001029882 AHDC1 EXON Missense_R1529C exm36696 1 27874627 [T/C] NM_001029882 AHDC1 EXON Missense_G1334S exm36707 1 27874861 [T/C] NM_001029882 AHDC1 EXON Missense_A1256T exm36715 1 27875055 [T/C] NM_001029882 AHDC1 EXON Missense_S1191N exm36719 1 27875208 [T/C] NM_001029882 AHDC1 EXON Missense_N1140S exm36724 1 27875301 [A/G] NM_001029882 AHDC1 EXON Missense_P1109L exm36726 1 27875319 [A/G] NM_001029882 AHDC1 EXON Missense_A1103V exm36744 1 27875694 [T/C] NM_001029882 AHDC1 EXON Missense_Q978R exm36747 1 27875800 [T/G] NM_001029882 AHDC1 EXON Missense_T943P exm36748 1 27875824 [T/C] NM_001029882 AHDC1 EXON Missense_A935T exm36765 1 27876189 [T/C] NM_001029882 AHDC1 EXON Missense_R813H exm36804 1 27877117 [T/C] NM_001029882 AHDC1 EXON Missense_V504M exm36808 1 27877216 [T/C] NM_001029882 AHDC1 EXON Missense_V471M exm36821 1 27877471 [T/G] NM_001029882 AHDC1 EXON Missense_R386S exm36837 1 27877840 [T/C] NM_001029882 AHDC1 EXON Missense_A263T exm36838 1 27877845 [A/G] NM_001029882 AHDC1 EXON Missense_A261V exm36857 1 27878157 [A/G] NM_001029882 AHDC1 EXON Missense_A157V kgp2605509 1 27883227 [T/C] NM_001029882 AHDC1 Silent kgp8830183 1 27889163 [T/C] NM_001029882 AHDC1 Silent exm2260122 1 27931698 [A/G] rs6598891 1 27937456 [T/C] exm36878 1 27939442 [A/G] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_P525S,Missense_P525S,Missense_P525S exm1786266 1 27939528 [T/C] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_R496H,Missense_R496H,Missense_R496H exm2251203 1 27939581 [T/C] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Synonymous_P478P,Synonymous_P478P,Synonymous_P478P exm36907 1 27942346 [T/A] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_D231V,Missense_D231V,Missense_D231V exm2233112 1 27948108 [C/G] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_S130R,Missense_S130R,Missense_S130R exm2276805 1 27949553 [A/G] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_T110I,Missense_T110I,Missense_T110I rs6691864 1 27965892 [A/G] rs1292081 1 27971502 [A/G] exm36942 1 27992953 [A/G] NM_022873,NM_002038,NM_022872 IFI6,IFI6,IFI6 EXON Missense_I119T,Missense_I111T,Missense_I115T rs2808422 1 28017518 [T/G] rs4908360 1 28028200 [A/G] rs4908335 1 28028261 [T/G] rs2272795 1 28051611 [A/G] rs1736540 1 28053477 [T/C] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A Silent,Silent,Silent,Silent,Silent rs6670793 1 28060574 [A/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Synonymous_A112A,Synonymous_A78A,Silent,Synonymous_A78A,Synonymous_A112A exm36985 1 28060600 [A/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_R121H,Missense_R87H,Silent,Missense_R87H,Missense_R121H indel.2026 1 28060636 [I/D] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON exm1786473 1 28071229 [A/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_K174R,Missense_K140R,Missense_K89R,Missense_K140R,Missense_K174R exm36995 1 28075662 [A/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_D233G,Silent,Silent,Missense_D199G,Silent variant.2027 1 28081764 [T/C] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Nonsense_Q254X,Nonsense_Q191X,Nonsense_Q140X,Nonsense_Q220X,Nonsense_Q225X newrs145344355 1 28086139 [A/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A Silent,Silent,Silent,Silent,Silent exm37000 1 28087052 [T/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_S329I,Missense_S266I,Missense_S215I,Missense_S295I,Missense_S300I rs2064072 1 28106233 [A/G] NM_177424 STX12 Silent indel.2029 1 28120133 [D/I] NM_177424 STX12 EXON exm37008 1 28128190 [A/G] NM_177424 STX12 EXON Missense_R97H exm37010 1 28128318 [T/C] NM_177424 STX12 EXON Missense_R140C indel.2030 1 28136793 [I/D] NM_177424 STX12 EXON exm37022 1 28146199 [A/G] NM_177424 STX12 EXON Missense_V230I variant.2031 1 28146244 [A/G] NM_177424 STX12 Silent rs11247691 1 28148561 [T/C] NM_177424 STX12 Silent rs2072750 1 28157871 [T/C] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Silent,Silent,Silent indel.2032 1 28159285 [D/I] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON exm1786679 1 28176716 [G/C] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Missense_S272T,Missense_S130T,Missense_S48T exm37073 1 28176777 [A/G] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Missense_M292I,Missense_M150I,Missense_M68I newrs191813798 1 28176927 [A/C] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Synonymous_G342G,Synonymous_G200G,Synonymous_G118G rs11247703 1 28203653 [G/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 Silent,Silent,Silent,Silent,Silent exm37101 1 28206250 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_F111L,Silent,Missense_F111L,Missense_F111L,Missense_F111L exm37104 1 28206295 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_E126K,Silent,Missense_E126K,Missense_E126K,Missense_E126K exm37112 1 28206440 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_A174V,Silent,Missense_A174V,Missense_A174V,Missense_A174V exm37124 1 28208572 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_P246L,Silent,Silent,Missense_P246L,Silent exm37125 1 28208649 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_R272C,Silent,Silent,Silent,Silent exm37129 1 28208727 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_P298S,Silent,Silent,Silent,Silent exm37131 1 28208829 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_P332S,Silent,Silent,Silent,Silent exm2233120 1 28208932 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_T366M,Silent,Silent,Silent,Silent rs3766400 1 28209366 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_K511E,Silent,Missense_K315E,Missense_K382E,Silent exm37154 1 28209366 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_K511E,Silent,Missense_K315E,Missense_K382E,Silent exm37156 1 28209381 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_P516S,Silent,Missense_P320S,Missense_P387S,Silent exm37162 1 28209484 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_P550L,Silent,Missense_P354L,Missense_P421L,Silent exm37166 1 28211835 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Synonymous_H583H,Missense_R89C,Synonymous_H387H,Synonymous_H454H,Missense_R226C exm37167 1 28211859 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Synonymous_A591A,Missense_E97K,Synonymous_A395A,Synonymous_A462A,Missense_E234K exm37168 1 28211893 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_S603G,Missense_Q108R,Missense_S407G,Missense_S474G,Missense_Q245R exm37170 1 28211920 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_R612G,Missense_Q117R,Missense_R416G,Missense_R483G,Missense_Q254R exm37173 1 28212428 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_I643V,Silent,Missense_I447V,Missense_I514V,Silent rs7356 1 28218100 [T/C] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 EXON Silent,Silent,Silent,Silent,Silent exm2268669 1 28218100 [T/C] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 EXON Silent,Silent,Silent,Silent,Silent indel.2036 1 28218709 [I/D] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 EXON rs2474470 1 28234999 [T/C] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 Silent,Silent,Silent,Silent,Silent exm37198 1 28240593 [A/G] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 EXON Silent,Missense_S33F,Missense_S37F,Missense_S41F,Silent exm37202 1 28240648 [T/C] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 EXON Silent,Missense_G15R,Missense_G19R,Missense_G23R,Silent indel.2039 1 28240932 [D/I] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 rs11247723 1 28251700 [A/C] rs6676158 1 28257209 [A/G] exm37224 1 28261712 [G/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_W6C,Silent,Missense_W6C exm37229 1 28261756 [T/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent rs3737807 1 28261902 [A/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent rs1010082 1 28267869 [T/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent rs10902678 1 28268573 [T/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent exm37233 1 28271744 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Synonymous_G21G,Silent,Synonymous_G21G exm37235 1 28271781 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_D34N,Silent,Missense_D34N exm37241 1 28271918 [C/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_K79N,Silent,Missense_K79N rs10902682 1 28274984 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent rs4256835 1 28276389 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent exm37247 1 28279737 [T/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_Y129H,Silent,Missense_Y129H exm37252 1 28279854 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_A168T,Silent,Missense_A168T exm37255 1 28280889 [T/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_P181L,Silent,Missense_P181L exm37268 1 28282238 [T/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_T245M,Missense_T39M,Missense_T245M exm37270 1 28282259 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_R252Q,Missense_R46Q,Missense_R252Q exm1786840 1 28282271 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_N256S,Missense_N50S,Missense_N256S exm37273 1 28282292 [T/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_V263A,Missense_V57A,Missense_V263A exm37275 1 28282307 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_R268H,Missense_R62H,Missense_R268H exm37276 1 28282309 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_V269I,Missense_V63I,Missense_V269I exm37277 1 28282330 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_G276R,Missense_G70R,Missense_G276R exm37296 1 28285123 [A/G] NM_001304579,NM_014474 SMPDL3B,SMPDL3B EXON Missense_R175H,Missense_R381H exm37298 1 28285155 [T/C] NM_001304579,NM_014474 SMPDL3B,SMPDL3B EXON Missense_Y186H,Missense_Y392H exm37306 1 28285315 [T/G] NM_001304579,NM_014474 SMPDL3B,SMPDL3B EXON Missense_M239R,Missense_M445R exm37323 1 28290139 [T/C] NM_018053 XKR8 EXON Missense_T142M exm37350 1 28293524 [A/G] NM_018053 XKR8 EXON Missense_R334Q exm37355 1 28293641 [A/G] NM_018053 XKR8 EXON Missense_R373H rs6699701 1 28298951 [T/C] NM_001990,NM_001282562,NM_001282561 EYA3,EYA3,EYA3 EXON Silent,Silent,Silent rs12565238 1 28299346 [T/C] NM_001990,NM_001282562,NM_001282561 EYA3,EYA3,EYA3 EXON Silent,Silent,Silent indel.2059 1 28304930 [I/D] NM_001990,NM_001282562,NM_001282561,NM_001282560 EYA3,EYA3,EYA3,EYA3 EXON rs12128181 1 28309976 [A/G] NM_001990,NM_001282562,NM_001282561,NM_001282560 EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent rs12040932 1 28311224 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560 EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent rs2492958 1 28314423 [A/G] NM_001990,NM_001282562,NM_001282561,NM_001282560 EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent exm37376 1 28326481 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 EXON Missense_N358S,Missense_N305S,Missense_N312S,Missense_N312S,Silent exm37381 1 28337465 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 EXON Missense_E301G,Missense_E248G,Missense_E255G,Missense_E255G,Silent exm37390 1 28339732 [A/G] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 EXON Missense_T220I,Missense_T167I,Missense_T174I,Missense_T174I,Silent exm37393 1 28343702 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 EXON Missense_N183S,Missense_N130S,Missense_N137S,Missense_N137S,Silent rs2790718 1 28351417 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent exm37398 1 28362075 [A/G] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 EXON Missense_T114M,Missense_T61M,Missense_T114M,Missense_T114M,Silent exm37405 1 28369127 [T/G] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 EXON Missense_P38T,Silent,Missense_P38T,Missense_P38T,Silent exm37406 1 28369158 [T/G] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 EXON Missense_Q27H,Silent,Missense_Q27H,Missense_Q27H,Silent rs10902684 1 28377053 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent rs537374 1 28387137 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent rs3753864 1 28390596 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent rs2486674 1 28420384 [A/G] rs6598919 1 28432549 [A/G] exm2264811 1 28432549 [A/G] rs12565621 1 28451885 [A/G] rs12088946 1 28464178 [T/C] exm37412 1 28476520 [T/C] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_N338S,Missense_N338S,Missense_N338S,Missense_N338S exm37420 1 28476713 [T/C] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_A274T,Missense_A274T,Missense_A274T,Missense_A274T exm37426 1 28476847 [T/C] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q exm37428 1 28476862 [T/G] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_A224D,Missense_A224D,Missense_A224D,Missense_A224D exm37444 1 28477102 [A/G] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_A144V,Missense_A144V,Missense_A144V,Missense_A144V exm37448 1 28477192 [T/C] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_N114S,Missense_N114S,Missense_N114S,Missense_N114S rs7518571 1 28551450 [A/G] NM_014280 DNAJC8 Silent exm37483 1 28559436 [G/C] NM_014280 DNAJC8 EXON Missense_S25T exm37485 1 28559479 [T/C] NM_014280 DNAJC8 EXON Missense_G11S exm37492 1 28562906 [A/G] NM_178190,NM_016311,NM_178191 ATP5IF1,ATP5IF1,ATP5IF1 EXON Missense_R41Q,Missense_R41Q,Missense_R41Q rs8559 1 28564252 [A/G] NM_178190,NM_016311,NM_178191 ATP5IF1,ATP5IF1,ATP5IF1 EXON Silent,Silent,Silent exm37501 1 28564279 [A/G] NM_178190,NM_016311,NM_178191 ATP5IF1,ATP5IF1,ATP5IF1 EXON Missense_R63G,Silent,Silent rs9508 1 28564279 [A/G] NM_178190,NM_016311,NM_178191 ATP5IF1,ATP5IF1,ATP5IF1 EXON Missense_R63G,Silent,Silent 1KG_1_28564457 1 28564457 [I/D] NM_178190,NM_016311,NM_178191 ATP5IF1,ATP5IF1,ATP5IF1 EXON rs508772 1 28589578 [T/C] NM_031459 SESN2 Silent exm37512 1 28595709 [T/C] NM_031459 SESN2 EXON Missense_R36W exm37514 1 28595716 [A/G] NM_031459 SESN2 EXON Missense_R38Q exm37520 1 28595751 [A/G] NM_031459 SESN2 EXON Missense_V50M exm37526 1 28598287 [T/C] NM_031459 SESN2 EXON Missense_P87S exm1787166 1 28599878 [T/G] NM_031459 SESN2 EXON Missense_S254A exm37555 1 28599897 [T/C] NM_031459 SESN2 EXON Missense_A260V exm37558 1 28599938 [T/C] NM_031459 SESN2 EXON Missense_R274W exm37564 1 28600574 [T/C] NM_031459 SESN2 EXON Missense_H309Y exm37565 1 28600607 [A/G] NM_031459 SESN2 EXON Missense_T320A rs11247766 1 28605319 [A/G] NM_031459 SESN2 Silent exm37579 1 28605706 [A/G] NM_031459 SESN2 EXON Missense_R437Q rs17163135 1 28648893 [T/C] rs11247771 1 28649402 [T/G] variant.2071 1 28657231 [T/G] NM_017638,NM_001127350 MED18,MED18 EXON Nonsense_E20X,Nonsense_E20X rs10794514 1 28659696 [T/G] NM_017638,NM_001127350 MED18,MED18 Silent,Silent exm37593 1 28660992 [A/G] NM_017638,NM_001127350 MED18,MED18 EXON Missense_M46I,Missense_M46I variant.2072 1 28661041 [T/C] NM_017638,NM_001127350 MED18,MED18 EXON Nonsense_Q63X,Nonsense_Q63X exm37598 1 28661074 [T/C] NM_017638,NM_001127350 MED18,MED18 EXON Missense_R74C,Missense_R74C newrs138328157 1 28661212 [T/G] NM_017638,NM_001127350 MED18,MED18 EXON Nonsense_E120X,Nonsense_E120X exm37609 1 28661225 [A/G] NM_017638,NM_001127350 MED18,MED18 EXON Missense_R124H,Missense_R124H exm37611 1 28661263 [T/C] NM_017638,NM_001127350 MED18,MED18 EXON Missense_R137C,Missense_R137C exm37614 1 28661302 [T/C] NM_017638,NM_001127350 MED18,MED18 EXON Missense_R150C,Missense_R150C exm37619 1 28661383 [A/G] NM_017638,NM_001127350 MED18,MED18 EXON Missense_A177T,Missense_A177T exm1787246 1 28661422 [A/G] NM_017638,NM_001127350 MED18,MED18 EXON Missense_A190T,Missense_A190T rs4908400 1 28690628 [T/C] kgp11982754 1 28733993 [T/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent kgp6414103 1 28736113 [T/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent exm37630 1 28785658 [A/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_T27P,Missense_T11P,Missense_T27P,Missense_T35P,Missense_T35P,Missense_T37P exm37631 1 28785665 [T/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_P29L,Missense_P13L,Missense_P29L,Missense_P37L,Missense_P37L,Missense_P39L indel.2077 1 28785730 [I/D] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON indel.2078 1 28786773 [D/I] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON exm37639 1 28792199 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_G92D,Missense_G76D,Missense_G92D,Missense_G100D,Missense_G100D,Missense_G102D exm37641 1 28792276 [A/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_S118R,Missense_S102R,Missense_S118R,Missense_S126R,Missense_S126R,Missense_S128R exm37646 1 28792952 [T/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_P166S,Missense_P150S,Missense_P166S,Missense_P174S,Missense_P174S,Missense_P176S indel.2079 1 28793280 [I/D] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 exm37666 1 28800237 [C/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_S332W,Missense_S316W,Missense_S332W,Missense_S340W,Missense_S340W,Missense_S342W exm37673 1 28800279 [T/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_P346L,Missense_P330L,Missense_P346L,Missense_P354L,Missense_P354L,Missense_P356L exm37676 1 28800380 [A/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_L380I,Missense_L364I,Missense_L380I,Missense_L388I,Missense_L388I,Missense_L390I exm37681 1 28800436 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_I398M,Missense_I382M,Missense_I398M,Missense_I406M,Missense_I406M,Missense_I408M exm37682 1 28800491 [A/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_L417M,Missense_L401M,Missense_L417M,Missense_L425M,Missense_L425M,Missense_L427M exm37683 1 28800530 [T/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_P430S,Missense_P414S,Missense_P430S,Missense_P438S,Missense_P438S,Missense_P440S exm37689 1 28800629 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_R463G,Missense_R447G,Missense_R463G,Missense_R471G,Missense_R471G,Missense_R473G exm37692 1 28802648 [A/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_T484N,Missense_T468N,Missense_T484N,Missense_T492N,Missense_T492N,Missense_T494N exm37694 1 28802659 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_T488A,Missense_T472A,Missense_T488A,Missense_T496A,Missense_T496A,Missense_T498A exm37696 1 28802695 [C/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_P500A,Missense_P484A,Missense_P500A,Missense_P508A,Missense_P508A,Missense_P510A exm37698 1 28806965 [C/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_A537P,Missense_A521P,Missense_A537P,Missense_A545P,Missense_A545P,Missense_A547P exm37699 1 28806971 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_A539T,Missense_A523T,Missense_A539T,Missense_A547T,Missense_A547T,Missense_A549T exm1787331 1 28807116 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_R587Q,Missense_R571Q,Missense_R587Q,Missense_R595Q,Missense_R595Q,Missense_R597Q variant.2081 1 28816407 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent,Silent exm37708 1 28817495 [T/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Nonsense_R617X,Nonsense_R601X,Nonsense_R617X,Nonsense_R625X,Nonsense_R625X,Nonsense_R627X rs11804512 1 28828893 [T/C] rs16837603 1 28832294 [A/G] rs2840757 1 28832923 [A/C] NR_002909,NR_030725,NR_030726,NM_001048199,NR_036473 SNHG3,RCC1,RCC1,RCC1,SNHG3 Silent,Silent,Silent,Silent,Silent rs2840758 1 28833494 [A/G] NR_002909,NR_030725,NR_030726,NM_001048199,NR_036473 SNHG3,RCC1,RCC1,RCC1,SNHG3 Silent,Silent,Silent,Silent,Silent exm2233134 1 28858447 [T/C] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_V69A,Missense_V100A,Missense_V86A,Missense_V69A exm37769 1 28861771 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Synonymous_G180G,Synonymous_G211G,Synonymous_G197G,Synonymous_G180G exm2233135 1 28862431 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_R237Q,Missense_R268Q,Missense_R254Q,Missense_R237Q exm37776 1 28862454 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_A245T,Missense_A276T,Missense_A262T,Missense_A245T exm37777 1 28862470 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_Y250C,Missense_Y281C,Missense_Y267C,Missense_Y250C rs10799123 1 28864120 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 Silent,Silent,Silent,Silent,Silent,Silent exm37792 1 28864399 [A/T] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_D382E,Missense_D413E,Missense_D399E,Missense_D382E exm37793 1 28864400 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_E383K,Missense_E414K,Missense_E400K,Missense_E383K 1KG_1_28864489 1 28864489 [I/D] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON exm37800 1 28864508 [T/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Nonsense_E419X,Nonsense_E450X,Nonsense_E436X,Nonsense_E419X rs12090855 1 28874969 [A/G] exm37809 1 28880201 [T/C] NR_003109,NM_017846 TRNAU1AP,TRNAU1AP EXON Silent,Missense_M26T rs12139243 1 28882973 [T/C] NR_003109,NM_017846 TRNAU1AP,TRNAU1AP Silent,Silent exm37836 1 28898383 [A/T] NR_003109,NM_017846 TRNAU1AP,TRNAU1AP EXON Silent,Missense_Y233F rs9426442 1 28901455 [A/G] NR_003109,NM_017846 TRNAU1AP,TRNAU1AP Silent,Silent exm37837 1 28904029 [A/G] NR_003109,NM_017846 TRNAU1AP,TRNAU1AP EXON Silent,Missense_D249N variant.2086 1 28906423 [A/C] NR_024127,NR_146384,NR_146381,NR_146386,NR_146383,NR_146385,NR_146382,NR_146387 SNHG12,SNHG12,SNHG12,SNHG12,SNHG12,SNHG12,SNHG12,SNHG12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent var_1_28906454 1 28906454 [T/C] NR_024127,NR_146384,NR_146381,NR_146386,NR_146383,NR_146385,NR_146382,NR_146387 SNHG12,SNHG12,SNHG12,SNHG12,SNHG12,SNHG12,SNHG12,SNHG12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm37864 1 28920448 [A/C] NM_152304,NM_001193532 RAB42,RAB42 EXON Nonsense_S46X,Nonsense_S159X rs34749063 1 28925538 [T/C] exm37873 1 28931901 [A/T] NM_001135218,NM_005644 TAF12,TAF12 EXON Missense_T145S,Missense_T145S exm37874 1 28931924 [T/C] NM_001135218,NM_005644 TAF12,TAF12 EXON Missense_R137Q,Missense_R137Q kgp3885732 1 28933723 [T/C] NM_001135218,NM_005644 TAF12,TAF12 Silent,Silent kgp4606842 1 28934902 [A/G] NM_001135218,NM_005644 TAF12,TAF12 Silent,Silent rs9426298 1 28990922 [A/G] exm37927 1 29010147 [T/G] NM_006582,NM_001319674,NM_024482 GMEB1,GMEB1,GMEB1 EXON Missense_V8G,Missense_V8G,Missense_V8G rs4654361 1 29013516 [A/G] NM_006582,NM_001319674,NM_024482 GMEB1,GMEB1,GMEB1 Silent,Silent,Silent exm37946 1 29030767 [A/G] NM_006582,NM_001319674,NM_024482 GMEB1,GMEB1,GMEB1 EXON Missense_N275S,Missense_N265S,Missense_N265S exm37950 1 29037143 [A/G] NM_006582,NM_001319674,NM_024482 GMEB1,GMEB1,GMEB1 EXON Missense_Y337C,Missense_Y327C,Missense_Y327C exm37972 1 29041227 [A/G] NM_006582,NM_001319674,NM_024482 GMEB1,GMEB1,GMEB1 EXON Missense_E555G,Missense_E545G,Missense_E545G exm37977 1 29063648 [G/C] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 EXON Missense_L6V,Missense_L6V,Silent exm37994 1 29069432 [C/G] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 EXON Missense_T217S,Missense_T217S,Missense_T167S exm37995 1 29069443 [A/G] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 EXON Missense_V221M,Missense_V221M,Missense_V171M exm37997 1 29069453 [A/G] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 EXON Missense_N224S,Missense_N224S,Missense_N174S rs7520756 1 29080166 [T/C] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 Silent,Silent,Silent rs606411 1 29115265 [T/C] rs1338064 1 29123347 [T/C] exm38024 1 29139038 [T/A] NM_000911 OPRD1 EXON Missense_L48Q rs2236861 1 29139756 [A/G] NM_000911 OPRD1 Silent rs6669447 1 29149361 [T/C] NM_000911 OPRD1 Silent rs797397 1 29151183 [A/G] NM_000911 OPRD1 Silent rs4654322 1 29151245 [T/C] NM_000911 OPRD1 Silent rs2236857 1 29161609 [T/C] NM_000911 OPRD1 Silent rs595725 1 29172715 [A/C] NM_000911 OPRD1 Silent rs581111 1 29175373 [A/G] NM_000911 OPRD1 Silent rs12749204 1 29176213 [A/G] NM_000911 OPRD1 Silent exm2264812 1 29181525 [A/G] NM_000911 OPRD1 Silent exm38046 1 29185785 [A/G] NM_000911 OPRD1 EXON Missense_I183V exm2233139 1 29189469 [G/C] NM_000911 OPRD1 EXON Missense_V265L exm2233140 1 29189487 [T/G] NM_000911 OPRD1 EXON Missense_V271L exm38066 1 29189601 [A/G] NM_000911 OPRD1 EXON Missense_A309T rs204069 1 29194818 [A/G] exm2268873 1 29194901 [T/C] rs7511894 1 29200219 [T/C] rs157198 1 29203907 [T/C] rs10915207 1 29223377 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent rs157208 1 29245406 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs12122962 1 29252322 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs12038347 1 29268716 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs4654381 1 29279387 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs10915212 1 29288008 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent variant.2094 1 29314190 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Nonsense_R81X,Nonsense_R81X,Silent,Silent,Nonsense_R81X exm38083 1 29314212 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Missense_K88R,Missense_K88R,Silent,Silent,Missense_K88R exm38084 1 29314302 [A/T] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Missense_F118Y,Missense_F118Y,Silent,Silent,Missense_F118Y indel.2095 1 29314418 [I/D] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 rs2985327 1 29319480 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent exm2233142 1 29319893 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Missense_E174K,Missense_E174K,Silent,Silent,Missense_E174K exm38093 1 29320013 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_V5I,Missense_V214I,Missense_V214I,Missense_V5I,Missense_V5I,Missense_V214I exm38094 1 29320034 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_V12I,Missense_V221I,Missense_V221I,Missense_V12I,Missense_V12I,Missense_V221I exm38103 1 29338416 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_R67C,Missense_R276C,Missense_R241C,Missense_R67C,Missense_R67C,Missense_R276C exm38106 1 29342206 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_V69I,Missense_V278I,Missense_V243I,Missense_V69I,Missense_V69I,Missense_V278I variant.2096 1 29344823 [A/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Nonsense_Y122X,Nonsense_Y331X,Nonsense_Y296X,Nonsense_Y122X,Nonsense_Y122X,Nonsense_Y331X exm1788236 1 29344869 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_V138M,Missense_V347M,Missense_V312M,Missense_V138M,Missense_V138M,Missense_V347M variant.2097 1 29344955 [T/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs2985334 1 29345027 [T/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent exm38116 1 29356970 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_M186V,Missense_M395V,Missense_M360V,Missense_M186V,Missense_M186V,Missense_M395V exm38117 1 29356974 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_Y187C,Missense_Y396C,Missense_Y361C,Missense_Y187C,Missense_Y187C,Missense_Y396C rs2486200 1 29363985 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent exm38139 1 29379679 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_G358D,Missense_G567D,Missense_G532D,Missense_G358D,Missense_G358D,Missense_G567D exm38146 1 29385153 [C/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Missense_T633R,Silent,Silent,Missense_T424R,Missense_T633R exm38147 1 29385350 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Missense_I644V,Silent,Silent,Silent,Silent exm1788336 1 29391585 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_R437Q,Missense_R700Q,Missense_R611Q,Missense_R458Q,Missense_R477Q,Missense_R686Q rs6686152 1 29400958 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent exm38163 1 29424419 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_T499I,Missense_T762I,Missense_T673I,Missense_T520I,Missense_T539I rs12045777 1 29429004 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent exm38169 1 29438907 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_R552C,Missense_R815C,Missense_R726C,Missense_R539C,Missense_R592C rs2249138 1 29443723 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Silent,Silent,Silent,Silent rs9578 1 29445598 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Silent,Silent,Silent,Silent rs2452788 1 29446811 [A/G] NM_001171868,NM_001003682 TMEM200B,TMEM200B EXON Silent,Silent exm38189 1 29447722 [A/G] NM_001171868,NM_001003682 TMEM200B,TMEM200B EXON Missense_R207C,Missense_R207C exm38196 1 29447886 [A/G] NM_001171868,NM_001003682 TMEM200B,TMEM200B EXON Missense_L152P,Missense_L152P exm38207 1 29448334 [T/C] NM_001171868,NM_001003682 TMEM200B,TMEM200B EXON Missense_A3T,Missense_A3T rs12032470 1 29464954 [A/C] exm38232 1 29475296 [A/G] NM_005626 SRSF4 EXON Missense_R371C exm38234 1 29475308 [A/G] NM_005626 SRSF4 EXON Missense_R367C exm38236 1 29475341 [T/C] NM_005626 SRSF4 EXON Missense_G356S exm38238 1 29475394 [G/C] NM_005626 SRSF4 EXON Missense_G338A exm38252 1 29475542 [A/G] NM_005626 SRSF4 EXON Missense_R289W exm38257 1 29475648 [T/G] NM_005626 SRSF4 EXON Missense_E253D rs10915234 1 29488047 [A/G] NM_005626 SRSF4 Silent exm-rs2640464 1 29519778 [T/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm38280 1 29520542 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_T296A,Silent,Silent,Missense_T296A,Silent,Missense_T407A,Missense_T296A,Missense_T296A,Missense_T400A,Missense_T372A,Missense_T322A,Missense_T296A exm38282 1 29520550 [T/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_Q293P,Silent,Silent,Missense_Q293P,Silent,Missense_Q404P,Missense_Q293P,Missense_Q293P,Missense_Q397P,Missense_Q369P,Missense_Q319P,Missense_Q293P rs12738007 1 29521705 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm38297 1 29527028 [A/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_A201V,Silent,Silent,Missense_A201V,Silent,Missense_A312V,Missense_A201V,Missense_A201V,Missense_A305V,Missense_A277V,Missense_A227V,Missense_A201V exm38300 1 29527085 [A/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_R182L,Silent,Silent,Missense_R182L,Silent,Missense_R293L,Missense_R182L,Missense_R182L,Missense_R286L,Missense_R258L,Missense_R208L,Missense_R182L variant.2103 1 29528450 [A/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm38312 1 29528531 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_R151K,Silent,Silent,Missense_R151K,Silent,Missense_R262K,Missense_R151K,Missense_R151K,Missense_R255K,Missense_R227K,Missense_R177K,Missense_R151K indel.2105 1 29528534 [D/I] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON exm38322 1 29529713 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_G119R,Silent,Silent,Missense_G119R,Silent,Missense_G230R,Missense_G119R,Missense_G119R,Missense_G223R,Missense_G195R,Missense_G145R,Missense_G119R exm38327 1 29533289 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_E103K,Silent,Silent,Missense_E103K,Silent,Missense_E214K,Missense_E103K,Missense_E103K,Missense_E207K,Missense_E179K,Missense_E129K,Missense_E103K rs2452785 1 29533601 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1788574 1 29542573 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_S41N,Silent,Silent,Missense_S41N,Silent,Missense_S152N,Missense_S41N,Missense_S41N,Missense_S145N,Missense_S117N,Missense_S67N,Missense_S41N exm38335 1 29542582 [A/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_A38V,Silent,Silent,Missense_A38V,Silent,Missense_A149V,Missense_A38V,Missense_A38V,Missense_A142V,Missense_A114V,Missense_A64V,Missense_A38V exm38336 1 29542636 [A/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_F20S,Silent,Silent,Missense_F20S,Silent,Missense_F131S,Missense_F20S,Missense_F20S,Missense_F124S,Missense_F96S,Missense_F46S,Missense_F20S rs1128400 1 29542637 [A/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_F20L,Silent,Silent,Missense_F20L,Silent,Missense_F131L,Missense_F20L,Missense_F20L,Missense_F124L,Missense_F96L,Missense_F46L,Missense_F20L exm38337 1 29542637 [A/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_F20L,Silent,Silent,Missense_F20L,Silent,Missense_F131L,Missense_F20L,Missense_F20L,Missense_F124L,Missense_F96L,Missense_F46L,Missense_F20L rs2640467 1 29556158 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm38347 1 29557367 [G/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R18G,Silent,Silent,Missense_R18G,Missense_R18G,Silent,Silent exm38350 1 29557390 [A/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V10G,Silent,Silent,Missense_V10G,Missense_V10G,Silent,Silent rs2503011 1 29558468 [T/C] rs7349137 1 29569212 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs2131556 1 29579826 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38360 1 29581894 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R61W,Missense_R61W,Missense_R61W,Missense_R61W exm38361 1 29581895 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R61Q,Missense_R61Q,Missense_R61Q,Missense_R61Q rs4654400 1 29584271 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs12404526 1 29586703 [A/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38399 1 29587158 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R296H,Missense_R296H,Missense_R296H,Missense_R296H exm38406 1 29587407 [A/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_K379T,Missense_K379T,Missense_K379T,Missense_K379T exm38418 1 29602227 [T/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R471L,Missense_R471L,Missense_R471L,Missense_R471L rs10799128 1 29603999 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38429 1 29606010 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_V536M,Missense_V536M,Missense_V536M,Missense_V536M 1KG_1_29606117 1 29606117 [D/I] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON rs4654299 1 29608356 [A/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38447 1 29609217 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R633Q,Missense_R633Q,Missense_R633Q,Missense_R633Q exm38449 1 29609232 [T/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R638L,Missense_R638L,Missense_R638L,Missense_R638L exm38457 1 29609327 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A670T,Missense_A670T,Missense_A670T,Missense_A670T exm38458 1 29609328 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A670V,Missense_A670V,Missense_A670V,Missense_A670V exm38467 1 29611369 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_I769T,Missense_I769T,Missense_I769T,Missense_I769T exm38470 1 29616224 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Silent,Silent,Silent,Missense_P783L exm38477 1 29618454 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R798C,Missense_R798C,Missense_R798C,Missense_R808C exm38478 1 29618470 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_Q803R,Missense_Q803R,Missense_Q803R,Missense_Q813R rs7518159 1 29621460 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs6681000 1 29624094 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38492 1 29630478 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A863V,Missense_A863V,Missense_A863V,Missense_A873V rs7524056 1 29631050 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38518 1 29631909 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_N930S,Missense_N930S,Missense_N930S,Missense_N940S exm38527 1 29638016 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_E969G,Missense_E975G,Missense_E969G,Missense_E979G exm38531 1 29638033 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_V975I,Missense_V981I,Missense_V975I,Missense_V985I exm38532 1 29638036 [T/A] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_M976L,Missense_M982L,Missense_M976L,Missense_M986L exm38533 1 29638037 [T/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_M976R,Missense_M982R,Missense_M976R,Missense_M986R exm38543 1 29639127 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_V1046I,Missense_V1052I,Missense_V1043I,Missense_V1056I exm38546 1 29639166 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R1059C,Missense_R1065C,Missense_R1056C,Missense_R1069C exm38558 1 29642614 [T/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_I1155S,Missense_I1161S,Missense_I1152S,Missense_I1165S exm38566 1 29644279 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_P1178L,Missense_P1184L,Missense_P1175L,Missense_P1188L exm38571 1 29644320 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R1192W,Missense_R1198W,Missense_R1189W,Missense_R1202W variant.2110 1 29644433 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Synonymous_D1229D,Synonymous_D1235D,Synonymous_D1226D,Synonymous_D1239D rs2007350 1 29646127 [T/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38581 1 29647221 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_I1238V,Missense_I1244V,Missense_I1235V,Missense_I1248V rs12749276 1 29649189 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38608 1 29651740 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A1384T,Missense_A1388T,Missense_A1381T,Missense_A1394T exm38613 1 29652154 [A/T] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_E1431V,Missense_E1435V,Missense_E1428V,Missense_E1441V rs7530986 1 29658494 [T/C] NR_110758 LINC01756 Silent rs761430 1 29678774 [A/C] rs1325280 1 29695231 [A/G] rs1886651 1 29707412 [A/G] rs212306 1 29719475 [A/G] rs212290 1 29722553 [A/G] rs6671744 1 29732223 [T/G] rs6657309 1 29743408 [A/G] rs1408857 1 29743630 [T/C] rs8179300 1 29744397 [T/C] rs12085934 1 29753125 [T/G] rs10915271 1 29754510 [A/G] rs7529591 1 29755064 [T/C] rs9426354 1 29763684 [T/C] rs6685390 1 29766120 [A/G] rs7514218 1 29780757 [T/C] rs4654349 1 29781221 [T/C] rs10915285 1 29782051 [A/G] rs4654351 1 29783755 [A/C] rs927727 1 29793205 [A/C] rs9426464 1 29800081 [T/C] rs10753340 1 29801368 [A/C] rs6694109 1 29801397 [A/C] rs1983855 1 29802337 [A/G] rs6426365 1 29806634 [A/G] rs11808245 1 29810250 [A/C] rs4078312 1 29815645 [T/C] rs9426279 1 29835996 [T/C] rs6426343 1 29865107 [T/C] rs6677824 1 29867677 [T/C] exm2264813 1 29868073 [A/G] rs6700641 1 29868073 [A/G] rs6605085 1 29869915 [A/G] rs7418865 1 29870454 [T/C] rs28716253 1 29870952 [A/G] kgp3354187 1 29874768 [A/G] kgp883624 1 29875347 [A/G] rs28567981 1 30029261 [T/C] rs28589362 1 30039872 [A/G] rs6603927 1 30064009 [A/G] rs10915035 1 30067017 [A/C] rs9729975 1 30073828 [A/G] rs9725360 1 30078751 [T/C] rs10798895 1 30086662 [A/G] rs271321 1 30098510 [T/G] rs9286945 1 30101569 [T/C] rs271316 1 30102340 [T/G] rs9439752 1 30114164 [T/G] rs271383 1 30120287 [A/C] rs446335 1 30127106 [A/G] rs199613 1 30133502 [A/G] exm2264814 1 30133502 [A/G] rs12122023 1 30143707 [A/G] rs166604 1 30148652 [T/C] rs9661274 1 30149249 [A/G] rs12564818 1 30155341 [A/G] rs271344 1 30156975 [A/G] rs387232 1 30157559 [T/G] rs9726412 1 30162535 [T/C] rs10753234 1 30165211 [A/G] rs12137141 1 30171995 [A/C] rs722497 1 30172044 [T/C] rs1441834 1 30173101 [T/C] rs894220 1 30183014 [A/G] rs4259710 1 30184426 [A/G] rs12118066 1 30185467 [T/C] rs1866967 1 30185662 [A/G] rs4949268 1 30186956 [T/C] rs7534377 1 30191202 [A/G] rs12125419 1 30204943 [A/C] rs1441831 1 30206771 [T/C] rs10914266 1 30211197 [A/G] rs10914271 1 30213840 [T/C] rs17262734 1 30225125 [A/C] rs12566608 1 30225137 [T/C] rs16832876 1 30226168 [A/G] rs12045312 1 30234753 [A/G] rs6684453 1 30238984 [T/C] rs12067980 1 30250727 [T/C] rs17262748 1 30257664 [T/C] rs7532810 1 30262302 [T/C] rs6691847 1 30265652 [T/C] rs4949476 1 30277330 [T/G] rs6678054 1 30284674 [A/C] rs4949485 1 30285848 [A/G] rs993245 1 30297793 [T/C] rs10157715 1 30297930 [A/G] rs12045961 1 30310092 [A/G] rs895786 1 30311124 [T/C] rs921197 1 30319889 [A/G] rs7512834 1 30322046 [T/C] rs6425687 1 30328390 [A/G] rs10914549 1 30332121 [T/C] rs1448339 1 30334824 [T/C] rs10914556 1 30344788 [T/C] rs1448337 1 30349276 [T/C] rs4949509 1 30351529 [T/C] rs10458370 1 30353687 [A/G] rs12083826 1 30365605 [A/C] rs7540340 1 30365857 [A/C] rs11587046 1 30367970 [T/C] rs895796 1 30368883 [T/C] rs752685 1 30369220 [A/G] rs4949230 1 30374868 [A/G] rs10914615 1 30381489 [A/G] rs2084436 1 30382007 [T/C] rs10798921 1 30399109 [A/G] rs198271 1 30399154 [T/C] rs4949233 1 30410570 [T/C] rs16833076 1 30414182 [T/G] rs10914662 1 30417143 [A/C] rs11583644 1 30419370 [A/G] rs4949238 1 30422596 [A/G] rs1009080 1 30431560 [A/G] exm-rs4949526 1 30432219 [T/C] rs267704 1 30437008 [A/G] exm2264998 1 30437268 [A/G] rs10753284 1 30445050 [T/C] rs267708 1 30445631 [A/G] rs409226 1 30472960 [A/G] rs453149 1 30487342 [T/C] NR_110790 LINC01648 EXON Silent rs1603724 1 30494591 [A/G] NR_110790 LINC01648 Silent rs267720 1 30497242 [T/G] NR_110790 LINC01648 Silent rs7511843 1 30509439 [T/G] NR_110790 LINC01648 Silent rs1391489 1 30522300 [T/C] rs1503772 1 30523923 [A/G] rs372125 1 30528143 [T/C] rs12125183 1 30529226 [A/G] rs391479 1 30530885 [T/C] rs404169 1 30531572 [A/C] rs267660 1 30540710 [T/C] rs1149064 1 30543026 [A/G] rs267667 1 30546997 [A/G] rs267669 1 30548348 [T/C] rs369715 1 30554684 [A/G] rs6661562 1 30562066 [A/G] rs7530417 1 30562263 [A/C] rs16833246 1 30566926 [T/C] exm-rs910696 1 30567596 [A/G] rs1746272 1 30572812 [A/G] rs2076977 1 30574158 [T/C] rs11807362 1 30574413 [A/G] rs12742458 1 30576573 [T/C] rs2376907 1 30581567 [A/G] rs2376487 1 30610536 [T/G] rs2146850 1 30620480 [T/C] rs7516391 1 30626710 [A/G] exm-rs2180233 1 30627712 [T/C] rs3934202 1 30635302 [A/G] rs10799083 1 30636313 [T/C] rs12142439 1 30636813 [A/G] rs6678179 1 30637397 [A/G] rs6425865 1 30641610 [A/G] rs6701005 1 30644096 [T/C] rs10493043 1 30645986 [T/C] rs4949549 1 30655669 [T/C] rs4949550 1 30655709 [T/C] rs7523165 1 30660403 [A/G] rs4245643 1 30661242 [A/G] rs10915040 1 30663554 [A/G] rs4381243 1 30675881 [A/G] rs16833396 1 30687128 [A/C] rs7516871 1 30687376 [A/G] rs762795 1 30690957 [T/C] rs13375139 1 30691713 [T/C] rs909623 1 30706530 [A/G] rs6685389 1 30709585 [A/G] rs12401958 1 30718102 [A/C] rs6657022 1 30720817 [T/C] rs11802750 1 30729050 [A/G] rs7524879 1 30730173 [T/C] rs10158763 1 30731138 [A/G] rs1008196 1 30737443 [A/G] rs12035857 1 30740493 [T/C] rs455494 1 30758928 [A/G] rs463128 1 30759956 [T/C] rs10915065 1 30766091 [A/G] rs390259 1 30775394 [A/G] rs411238 1 30787227 [A/G] rs6672668 1 30787475 [T/C] rs10799096 1 30791516 [T/C] exm2263819 1 30794960 [A/C] rs2007451 1 30799299 [T/C] rs6425951 1 30803478 [T/C] rs13374017 1 30803964 [A/G] rs10915081 1 30808141 [A/G] rs453756 1 30809179 [A/C] rs760655 1 30809347 [T/C] rs1023447 1 30819135 [A/G] rs762798 1 30827240 [T/C] rs7552558 1 30830169 [A/G] rs636797 1 30830505 [T/C] rs675696 1 30850174 [T/C] rs6696645 1 30850902 [A/C] rs1887916 1 30858250 [A/C] rs6425970 1 30858705 [A/C] rs4949262 1 30862461 [T/C] rs3867305 1 30873469 [T/G] rs6656216 1 30878285 [T/C] rs650676 1 30885210 [T/C] rs12029866 1 30885349 [A/G] rs6676701 1 30887732 [A/G] exm-rs12407007 1 30890532 [T/C] rs12407007 1 30890532 [T/C] rs728338 1 30893256 [A/G] rs606404 1 30894160 [T/C] rs6425993 1 30898743 [A/G] rs10915113 1 30898855 [T/C] rs609878 1 30899960 [T/C] rs689303 1 30910090 [T/C] rs657816 1 30919030 [A/G] rs12117449 1 30919378 [T/C] rs593280 1 30920875 [A/G] rs6673363 1 30933736 [T/C] rs262623 1 30933984 [T/C] rs1552319 1 30944362 [A/C] rs12406008 1 30945974 [A/G] rs16833773 1 30960556 [A/G] rs182018 1 30961210 [A/G] rs4949266 1 30962106 [T/C] rs415314 1 30962474 [T/C] rs3104429 1 30985076 [T/C] rs10915140 1 30985651 [T/C] rs12144776 1 30989639 [A/G] rs396648 1 30993005 [T/C] rs7515295 1 31008382 [A/C] rs1994239 1 31010302 [A/G] rs10915150 1 31012257 [T/C] rs9628644 1 31013426 [T/C] rs10915153 1 31017178 [A/G] rs904257 1 31022237 [A/G] rs2377368 1 31024967 [A/G] rs2377367 1 31027917 [T/C] rs3104435 1 31045509 [A/G] rs525813 1 31058914 [T/C] rs610679 1 31061327 [A/G] rs530973 1 31062295 [T/C] rs788871 1 31064203 [T/C] rs4949279 1 31080612 [T/C] rs544789 1 31083478 [A/G] rs666750 1 31086685 [T/G] rs10914158 1 31087850 [A/G] rs7518010 1 31088967 [T/C] rs11589302 1 31099501 [A/G] rs1188414 1 31099929 [T/C] rs1201394 1 31101134 [T/C] rs522294 1 31118741 [A/G] rs2147081 1 31148956 [A/G] rs2700541 1 31151319 [A/C] rs1408151 1 31151452 [T/C] rs1188390 1 31151500 [T/C] rs1188444 1 31164624 [T/C] rs716486 1 31167561 [A/G] rs1033867 1 31167998 [T/C] rs1830705 1 31168219 [T/C] rs1149023 1 31176942 [T/G] rs1149024 1 31177073 [T/C] rs12750278 1 31178663 [T/G] rs7555715 1 31183812 [A/C] rs1188395 1 31184368 [A/G] NM_002379 MATN1 EXON Silent exm38621 1 31187165 [A/G] NM_002379 MATN1 EXON Missense_P457L variant.2112 1 31187999 [T/C] NM_002379 MATN1 Silent exm38622 1 31188019 [T/G] NM_002379 MATN1 EXON Missense_K449Q exm1791661 1 31188861 [T/C] NM_002379 MATN1 EXON Missense_V368M exm38635 1 31188935 [T/C] NM_002379 MATN1 EXON Missense_R343Q exm2251338 1 31189689 [A/G] NM_002379 MATN1 EXON Synonymous_T246T exm2251339 1 31189701 [A/G] NM_002379 MATN1 EXON Synonymous_P242P exm38669 1 31194290 [T/C] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Missense_A135T,Silent exm38681 1 31194457 [T/C] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Missense_R79Q,Silent exm38686 1 31194516 [T/G] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Missense_K59N,Silent exm38690 1 31194539 [T/C] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Missense_V52I,Silent exm38691 1 31194544 [T/C] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Missense_R50H,Silent rs1149048 1 31198733 [A/G] NR_034182 MATN1-AS1 EXON Silent rs4949290 1 31203860 [A/G] exm38710 1 31206719 [T/C] NM_006762 LAPTM5 EXON Missense_T249A exm38712 1 31206754 [A/G] NM_006762 LAPTM5 EXON Missense_P237L rs3795437 1 31206806 [T/C] NM_006762 LAPTM5 Silent exm38714 1 31208042 [T/C] NM_006762 LAPTM5 EXON Missense_R226K rs1188357 1 31211282 [T/G] NM_006762 LAPTM5 Silent exm38727 1 31211894 [A/G] NM_006762 LAPTM5 EXON Missense_P135S exm38728 1 31212666 [T/C] NM_006762 LAPTM5 EXON Missense_R126Q exm38732 1 31212687 [A/G] NM_006762 LAPTM5 EXON Missense_A119V rs1188347 1 31226340 [T/C] NM_006762 LAPTM5 Silent exm38753 1 31230532 [T/C] NM_006762 LAPTM5 EXON Missense_T21A rs3762297 1 31231680 [T/C] rs4949294 1 31235936 [T/G] rs12124742 1 31239262 [T/C] rs12736883 1 31241312 [A/G] rs878467 1 31247236 [A/C] rs10914206 1 31264978 [T/C] rs11578558 1 31267335 [A/C] rs10798809 1 31272279 [A/G] rs12038524 1 31286796 [A/G] rs4949309 1 31296585 [T/G] rs746700 1 31297519 [T/C] NR_146732 LINC01778 EXON Silent rs3923872 1 31309717 [A/G] rs12756105 1 31313417 [A/G] rs2488230 1 31320651 [A/G] rs2796210 1 31326201 [A/G] rs3935266 1 31330844 [A/G] rs12408228 1 31337417 [A/C] rs4949320 1 31339570 [T/C] rs2488238 1 31344952 [T/C] NM_014654 SDC3 EXON Silent exm38763 1 31346102 [T/C] NM_014654 SDC3 EXON Missense_V429I exm38772 1 31346198 [T/C] NM_014654 SDC3 EXON Missense_A397T exm38781 1 31347320 [A/G] NM_014654 SDC3 EXON Missense_T329I exm38782 1 31347338 [T/G] NM_014654 SDC3 EXON Missense_E323A exm38792 1 31347399 [T/C] NM_014654 SDC3 EXON Missense_D303N exm1791707 1 31349557 [C/G] NM_014654 SDC3 EXON Missense_V238L exm38813 1 31349647 [T/C] NM_014654 SDC3 EXON Missense_V208I exm38824 1 31349736 [A/G] NM_014654 SDC3 EXON Missense_T178I exm38829 1 31349871 [T/C] NM_014654 SDC3 EXON Missense_R133H exm38836 1 31349977 [A/G] NM_014654 SDC3 EXON Missense_R98C exm38837 1 31349983 [T/C] NM_014654 SDC3 EXON Missense_A96T rs12406720 1 31353409 [T/C] NM_014654 SDC3 Silent rs7368024 1 31372509 [A/G] NM_014654 SDC3 Silent rs7514514 1 31408056 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs3795433 1 31413972 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent newrs183040257 1 31414838 [A/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent exm38893 1 31422976 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Silent,Missense_I952V rs6672383 1 31424889 [A/G] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs2275741 1 31426815 [A/G] NM_014676,NM_001020658 PUM1,PUM1 EXON Synonymous_N779N,Synonymous_N779N rs6696300 1 31429785 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent exm38929 1 31439065 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_N617S,Missense_N617S exm38947 1 31441312 [G/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_P512A,Missense_P512A exm2251340 1 31441316 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Synonymous_Q510Q,Synonymous_Q510Q exm38950 1 31447545 [T/A] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_S487T,Missense_S487T exm1791740 1 31454160 [A/G] NM_014676,NM_001020658 PUM1,PUM1 EXON Synonymous_I417I,Synonymous_I417I exm38958 1 31454183 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_A410T,Missense_A410T rs947643 1 31461438 [A/G] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent exm38964 1 31465377 [T/G] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_M340L,Missense_M340L exm38966 1 31465505 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_R297H,Missense_R297H exm38971 1 31468066 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_G241D,Missense_G241D variant.2119 1 31479951 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs1015099 1 31500659 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs6656007 1 31504963 [T/G] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent exm38985 1 31532110 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_G102S,Missense_G102S exm38986 1 31532151 [T/G] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_Q88P,Missense_Q88P exm38990 1 31532277 [A/G] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_A46V,Missense_A46V rs6673049 1 31564030 [A/G] rs6425712 1 31606417 [A/G] rs2185419 1 31606783 [A/C] rs6689678 1 31618766 [T/C] rs2153451 1 31650819 [A/G] exm39003 1 31655410 [C/G] NM_024522 NKAIN1 EXON Missense_V167L exm39004 1 31655422 [A/T] NM_024522 NKAIN1 EXON Missense_F163I exm39007 1 31656764 [C/G] NM_024522 NKAIN1 EXON Missense_R124P exm39012 1 31656857 [T/C] NM_024522 NKAIN1 EXON Missense_R93Q exm39014 1 31658150 [T/C] NM_024522 NKAIN1 EXON Missense_V73I exm39019 1 31660926 [T/C] NM_024522 NKAIN1 EXON Missense_V55M exm2264815 1 31661921 [A/G] NM_024522 NKAIN1 Silent rs10798826 1 31669803 [T/C] NM_024522 NKAIN1 Silent rs2377717 1 31673263 [T/C] NM_024522 NKAIN1 Silent rs16834237 1 31680313 [T/C] NM_024522 NKAIN1 Silent rs7549197 1 31681014 [T/C] NM_024522 NKAIN1 Silent exm2263858 1 31681614 [A/C] NM_024522 NKAIN1 Silent rs10798827 1 31682312 [T/G] NM_024522 NKAIN1 Silent rs10753244 1 31683500 [A/G] NM_024522 NKAIN1 Silent rs6680565 1 31687958 [A/G] NM_024522 NKAIN1 Silent rs10914332 1 31699002 [A/G] NM_024522 NKAIN1 Silent rs12087046 1 31700412 [A/G] NM_024522 NKAIN1 Silent rs1107427 1 31701981 [A/G] NM_024522 NKAIN1 Silent rs6701667 1 31707971 [A/C] NM_024522 NKAIN1 Silent rs10493047 1 31741777 [T/C] NM_004814 SNRNP40 Silent variant.2123 1 31742000 [T/C] NM_004814 SNRNP40 Silent rs6425730 1 31747393 [T/C] NM_004814 SNRNP40 Silent exm39044 1 31754270 [T/C] NM_004814 SNRNP40 EXON Missense_N202S variant.2124 1 31766066 [A/G] NM_004814 SNRNP40 EXON Synonymous_L91L rs3737753 1 31769414 [A/G] NM_004814 SNRNP40 Silent exm39061 1 31769528 [A/C] NM_004814 SNRNP40 EXON Missense_L24W exm-rs6679393 1 31770944 [T/C] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10914347 1 31773496 [T/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7523438 1 31788313 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm39079 1 31791962 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 EXON Missense_M1V,Missense_M25V,Missense_M47V,Missense_M25V,Missense_M17V,Silent,Missense_M25V,Missense_M1V,Missense_M25V,Missense_M17V exm1791800 1 31810055 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 EXON Missense_R29Q,Missense_R53Q,Missense_R75Q,Missense_R53Q,Missense_R45Q,Silent,Missense_R53Q,Missense_R29Q,Missense_R53Q,Missense_R45Q variant.2126 1 31811895 [A/C] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 EXON Missense_E82A,Missense_E106A,Missense_E128A,Missense_E106A,Missense_E98A,Missense_E44A,Missense_E106A,Missense_E82A,Missense_E106A,Missense_E98A variant.2127 1 31811900 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2264816 1 31819128 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10798845 1 31822636 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11436 1 31837320 [T/C] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.2130 1 31838741 [I/D] NM_004102,NM_001320996 FABP3,FABP3 EXON exm39109 1 31838767 [A/G] NM_004102,NM_001320996 FABP3,FABP3 EXON Missense_A123V,Missense_A134V exm39115 1 31842320 [T/C] NM_004102,NM_001320996 FABP3,FABP3 EXON Missense_K53R,Missense_K64R exm2233157 1 31845854 [T/C] NM_004102,NM_001320996 FABP3,FABP3 EXON Missense_D3G,Missense_D3G rs10914367 1 31846206 [A/G] rs12562824 1 31854882 [A/G] rs12122184 1 31858784 [T/C] rs6659255 1 31869669 [T/C] rs2889753 1 31871407 [A/G] exm39122 1 31883259 [A/G] NM_001199038,NM_001199037 SERINC2,SERINC2 EXON Missense_E15K,Missense_E10K rs10914375 1 31885859 [A/G] NM_001199038,NM_001199037 SERINC2,SERINC2 Silent,Silent exm39132 1 31896645 [T/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_G58W,Missense_G53W,Missense_G49W,Missense_G53W,Silent exm39133 1 31896649 [T/A] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_V59E,Missense_V54E,Missense_V50E,Missense_V54E,Silent exm39138 1 31897546 [A/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_E82A,Missense_E77A,Missense_E73A,Missense_E77A,Missense_E18A exm2251342 1 31897556 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Synonymous_A85A,Synonymous_A80A,Synonymous_A76A,Synonymous_A80A,Synonymous_A21A exm39141 1 31897557 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_G86R,Missense_G81R,Missense_G77R,Missense_G81R,Missense_G22R exm39143 1 31897587 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_D96N,Missense_D91N,Missense_D87N,Missense_D91N,Missense_D32N exm39148 1 31897639 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_T113M,Missense_T108M,Missense_T104M,Missense_T108M,Missense_T49M exm39154 1 31897692 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R131W,Missense_R126W,Missense_R122W,Missense_R126W,Missense_R67W exm39169 1 31898640 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_V173I,Missense_V168I,Missense_V164I,Missense_V168I,Missense_V109I exm39174 1 31898712 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R197W,Missense_R192W,Missense_R188W,Missense_R192W,Missense_R133W exm39181 1 31898757 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_A212T,Missense_A207T,Missense_A203T,Missense_A207T,Missense_A148T exm1791834 1 31899521 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_L220F,Missense_L215F,Missense_L211F,Missense_L215F,Missense_L156F exm39197 1 31902279 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_G312S,Missense_G307S,Missense_G303S,Missense_G307S,Missense_G248S exm39205 1 31902357 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_I338V,Missense_I333V,Missense_I329V,Missense_I333V,Missense_I274V exm39210 1 31905818 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R349C,Missense_R344C,Missense_R340C,Missense_R344C,Missense_R285C exm39211 1 31905819 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R349H,Missense_R344H,Missense_R340H,Missense_R344H,Missense_R285H exm39212 1 31905834 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R354Q,Missense_R349Q,Missense_R345Q,Missense_R349Q,Missense_R290Q exm39214 1 31905860 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_E363K,Missense_E358K,Missense_E354K,Missense_E358K,Missense_E299K exm39219 1 31905924 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R384Q,Missense_R379Q,Missense_R375Q,Missense_R379Q,Missense_R320Q exm39223 1 31905942 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_Q390R,Missense_Q385R,Missense_Q381R,Missense_Q385R,Missense_Q326R exm39226 1 31905947 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_G392S,Missense_G387S,Missense_G383S,Missense_G387S,Missense_G328S exm39235 1 31906932 [T/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_M427I,Missense_M422I,Missense_M418I,Missense_M422I,Missense_M363I exm39237 1 31906948 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_A433T,Missense_A428T,Missense_A424T,Missense_A428T,Missense_A369T exm39239 1 31907012 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_A454V,Missense_A449V,Missense_A445V,Missense_A449V,Missense_A390V exm39241 1 31907027 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R459H,Missense_R454H,Missense_R450H,Missense_R454H,Missense_R395H exm39242 1 31907032 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R461C,Missense_R456C,Missense_R452C,Missense_R456C,Missense_R397C rs6661466 1 31907510 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Silent,Silent,Silent,Silent,Silent rs6702129 1 31910482 [A/G] rs10798854 1 31934343 [A/G] exm2260174 1 31943343 [T/C] rs4949416 1 31953898 [A/G] rs10798859 1 31955533 [A/G] rs1574104 1 31973440 [A/G] NR_034112 LINC01225 EXON Silent rs10914420 1 31977350 [A/G] rs6684549 1 31982479 [A/C] rs10914430 1 31987662 [A/G] NR_027085 LINC01226 EXON Silent rs10493048 1 31993870 [T/C] rs6662915 1 31995973 [T/C] rs4245634 1 32002287 [T/C] rs6425766 1 32007672 [A/G] rs10798873 1 32009650 [T/G] rs4949441 1 32015974 [A/G] rs6670560 1 32019153 [A/C] rs2377894 1 32031843 [A/G] rs7529327 1 32032752 [A/G] exm39247 1 32042762 [T/C] NM_001204414,NM_022164 TINAGL1,TINAGL1 EXON Missense_P5S,Missense_P5S exm39273 1 32049084 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_A133T,Missense_A164T,Missense_A59T exm39276 1 32049151 [T/C] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_S155L,Missense_S186L,Missense_S81L exm39281 1 32050289 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_N167S,Missense_N198S,Missense_N93S exm39287 1 32050351 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_E188K,Missense_E219K,Missense_E114K exm39301 1 32050843 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_G286S,Missense_G317S,Missense_G212S exm39312 1 32051421 [A/C] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_S356R,Missense_S387R,Missense_S282R exm39319 1 32052477 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_R403K,Missense_R434K,Missense_R329K exm39321 1 32052529 [A/C] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_F420L,Missense_F451L,Missense_F346L rs10914446 1 32054094 [A/C] rs10914453 1 32075036 [A/G] exm39325 1 32084861 [T/C] NM_001525 HCRTR1 EXON Missense_V23A exm39326 1 32084872 [T/G] NM_001525 HCRTR1 EXON Missense_Y27D exm39328 1 32084917 [G/C] NM_001525 HCRTR1 EXON Missense_P42A exm39335 1 32085210 [A/G] NM_001525 HCRTR1 EXON Missense_V93I rs10914455 1 32085637 [A/G] NM_001525 HCRTR1 Silent exm39353 1 32086564 [A/G] NM_001525 HCRTR1 EXON Missense_G167S exm39356 1 32086654 [T/C] NM_001525 HCRTR1 EXON Missense_R197W exm39363 1 32087170 [T/C] NM_001525 HCRTR1 EXON Missense_F239L exm39366 1 32087189 [A/G] NM_001525 HCRTR1 EXON Missense_R245H exm39371 1 32089178 [A/C] NM_001525 HCRTR1 EXON Missense_L265M exm39372 1 32089208 [A/G] NM_001525 HCRTR1 EXON Missense_E275K exm39375 1 32089227 [A/G] NM_001525 HCRTR1 EXON Missense_R281H exm1792172 1 32089307 [A/G] NM_001525 HCRTR1 EXON Missense_A308T exm39385 1 32090600 [T/C] NM_001525 HCRTR1 EXON Missense_V323A exm39389 1 32090716 [A/G] NM_001525 HCRTR1 EXON Missense_S362G rs2271933 1 32092525 [A/G] NM_001525 HCRTR1 EXON Missense_I408V exm39398 1 32092525 [A/G] NM_001525 HCRTR1 EXON Missense_I408V exm39406 1 32096386 [T/C] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 EXON Missense_R228H,Missense_R158H,Silent exm39411 1 32098120 [T/C] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 EXON Missense_I201V,Missense_I131V,Silent exm39413 1 32098137 [T/C] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 EXON Missense_R195Q,Missense_R125Q,Silent exm39424 1 32098910 [T/C] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 EXON Missense_A111T,Missense_A41T,Silent exm39428 1 32100879 [T/C] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 EXON Missense_Y90C,Missense_Y20C,Silent exm39439 1 32101060 [T/G] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 EXON Missense_P30T,Silent,Silent rs7524405 1 32108579 [A/C] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 Silent,Silent,Silent rs7542583 1 32110813 [A/G] NM_012392,NR_033686 PEF1,PEF1 EXON Silent,Silent exm39452 1 32119265 [A/G] NM_001856 COL16A1 EXON Missense_T1516I exm39454 1 32119492 [A/G] NM_001856 COL16A1 EXON Missense_R1504W exm39456 1 32119527 [A/G] NM_001856 COL16A1 EXON Missense_S1492L exm1792274 1 32119590 [T/G] NM_001856 COL16A1 EXON Missense_A1471D exm39460 1 32119619 [A/C] NM_001856 COL16A1 EXON Missense_R1461S variant.2154 1 32120417 [A/G] NM_001856 COL16A1 EXON Nonsense_Q1445X exm39463 1 32120423 [T/C] NM_001856 COL16A1 EXON Missense_I1443V exm39464 1 32120944 [A/G] NM_001856 COL16A1 EXON Missense_P1421S exm39472 1 32121026 [G/C] NM_001856 COL16A1 EXON Missense_K1393N exm39484 1 32126672 [T/C] NM_001856 COL16A1 EXON Missense_A1274T exm39486 1 32126681 [A/G] NM_001856 COL16A1 EXON Missense_R1271W rs2271928 1 32127953 [A/G] NM_001856 COL16A1 EXON Synonymous_D1221D exm39505 1 32130793 [A/G] NM_001856 COL16A1 EXON Missense_P1179S exm39518 1 32133177 [A/G] NM_001856 COL16A1 EXON Missense_P1119L exm39539 1 32138045 [A/G] NM_001856 COL16A1 EXON Missense_P1026L exm39543 1 32138199 [A/G] NM_001856 COL16A1 EXON Missense_R1006W exm39544 1 32138208 [T/C] NM_001856 COL16A1 EXON Missense_E1003K rs909002 1 32139635 [T/C] NM_001856 COL16A1 Silent exm39556 1 32145415 [T/G] NM_001856 COL16A1 EXON Missense_P903Q exm39563 1 32145693 [T/C] NM_001856 COL16A1 EXON Missense_G874R exm39565 1 32146520 [A/G] NM_001856 COL16A1 EXON Missense_P866S exm39566 1 32146528 [T/C] NM_001856 COL16A1 EXON Missense_E863G rs2297684 1 32146764 [T/C] NM_001856 COL16A1 Silent exm39571 1 32148555 [A/C] NM_001856 COL16A1 EXON Missense_A840S exm39578 1 32148936 [T/A] NM_001856 COL16A1 EXON Missense_Q805L exm39585 1 32149721 [G/C] NM_001856 COL16A1 EXON Missense_P758A exm39586 1 32149760 [T/C] NM_001856 COL16A1 EXON Missense_G745S exm39595 1 32150183 [A/G] NM_001856 COL16A1 EXON Missense_R701W exm39604 1 32151316 [T/C] NM_001856 COL16A1 EXON Missense_R647H exm39605 1 32151331 [T/C] NM_001856 COL16A1 EXON Missense_Q642R exm39624 1 32154650 [A/C] NM_001856 COL16A1 Silent exm39626 1 32155367 [T/C] NM_001856 COL16A1 EXON Missense_E532G exm39630 1 32155452 [A/C] NM_001856 COL16A1 EXON Missense_G504C exm2251352 1 32156157 [T/C] NM_001856 COL16A1 EXON Synonymous_P485P exm39636 1 32156167 [A/G] NM_001856 COL16A1 EXON Missense_S482L exm39637 1 32156817 [A/C] NM_001856 COL16A1 EXON Missense_G470V exm39648 1 32157239 [T/C] NM_001856 COL16A1 EXON Missense_R421Q exm39651 1 32157610 [T/C] NM_001856 COL16A1 EXON Missense_R418Q exm39655 1 32158076 [T/C] NM_001856 COL16A1 EXON Missense_K398R exm39658 1 32158107 [A/G] NM_001856 COL16A1 EXON Missense_P388S exm39659 1 32158204 [T/C] NM_001856 COL16A1 EXON Missense_A385T exm2251353 1 32158374 [T/C] NM_001856 COL16A1 EXON Synonymous_P369P rs3818788 1 32158374 [T/C] NM_001856 COL16A1 EXON Synonymous_P369P exm39667 1 32158384 [A/G] NM_001856 COL16A1 EXON Missense_P366L exm39669 1 32158399 [T/C] NM_001856 COL16A1 EXON Missense_C361Y exm39672 1 32158695 [A/G] NM_001856 COL16A1 EXON Missense_R357W exm39677 1 32159764 [A/C] NM_001856 COL16A1 EXON Missense_L330R exm39694 1 32162598 [T/C] NM_001856 COL16A1 EXON Missense_R277H exm39701 1 32163521 [G/C] NM_001856 COL16A1 EXON Missense_G215R exm39706 1 32163574 [T/C] NM_001856 COL16A1 EXON Missense_R197Q exm39707 1 32163587 [A/G] NM_001856 COL16A1 EXON Missense_P193S exm39710 1 32163632 [A/G] NM_001856 COL16A1 EXON Missense_R178C exm39712 1 32163704 [G/C] NM_001856 COL16A1 EXON Missense_V154L exm39716 1 32164127 [A/G] NM_001856 COL16A1 EXON Missense_T116M exm39721 1 32164194 [A/G] NM_001856 COL16A1 EXON Missense_R94W exm39723 1 32164206 [T/G] NM_001856 COL16A1 EXON Synonymous_R90R variant.2174 1 32165414 [T/C] NM_001856 COL16A1 EXON Missense_R89Q exm39726 1 32165463 [T/C] NM_001856 COL16A1 EXON Missense_G73R rs2228552 1 32165495 [T/G] NM_001856 COL16A1 EXON Missense_T62K exm39727 1 32165495 [T/G] NM_001856 COL16A1 EXON Missense_T62K exm39731 1 32165648 [T/C] NM_001856 COL16A1 EXON Missense_V48M exm39735 1 32167758 [T/C] NM_001856 COL16A1 EXON Missense_G13S rs7518105 1 32171846 [A/C] rs10914472 1 32181220 [T/G] exm39737 1 32193044 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_G1578S,Missense_G1545S,Missense_G1579S exm39739 1 32193049 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_P1576L,Missense_P1543L,Missense_P1577L exm39746 1 32193185 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_R1531C,Missense_R1498C,Missense_R1532C exm39753 1 32193657 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_S1513L,Missense_S1480L,Missense_S1514L exm39757 1 32193790 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_T1502M,Missense_T1469M,Missense_T1503M exm39761 1 32193866 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_R1477W,Missense_R1444W,Missense_R1478W exm39772 1 32196549 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_A1411V,Missense_A1378V,Missense_A1411V exm2233168 1 32196634 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_R1383W,Missense_R1350W,Missense_R1383W rs3766823 1 32197257 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 Silent,Silent,Silent exm39800 1 32198619 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_A1193V,Missense_A1160V,Missense_A1193V exm39809 1 32201182 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_G1118R,Missense_G1118R,Missense_G1118R exm39818 1 32201439 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_V1086I,Missense_V1086I,Missense_V1086I exm39860 1 32204476 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_P853L,Missense_P853L,Missense_P853L exm39872 1 32205102 [C/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_L768V,Missense_L768V,Missense_L768V exm39873 1 32205180 [A/T] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_M742L,Missense_M742L,Missense_M742L exm39881 1 32205615 [G/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_H693Q,Missense_H693Q,Missense_H693Q exm39888 1 32206054 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_R628Q,Missense_R628Q,Missense_R628Q exm39907 1 32207729 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_V448M,Missense_V448M,Missense_V448M exm39914 1 32209821 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_P354S,Missense_P354S,Missense_P354S exm39918 1 32209949 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_A311V,Missense_A311V,Missense_A311V exm39927 1 32210312 [G/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_P287A,Missense_P287A,Missense_P287A exm2251357 1 32222087 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Synonymous_A117A,Synonymous_A117A,Synonymous_A117A exm1792686 1 32222087 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Synonymous_A117A,Synonymous_A117A,Synonymous_A117A exm39956 1 32222088 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_A117V,Missense_A117V,Missense_A117V exm39974 1 32222347 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_T31A,Missense_T31A,Missense_T31A rs6656287 1 32252615 [T/C] exm39989 1 32256329 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_P656S,Missense_P1176S,Missense_P1163S exm39990 1 32256385 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_A637V,Missense_A1157V,Missense_A1144V exm39994 1 32256433 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_R621K,Missense_R1141K,Missense_R1128K exm39996 1 32256452 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_R615C,Missense_R1135C,Missense_R1122C newrs144211428 1 32256683 [T/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_P538T,Missense_P1058T,Missense_P1045T variant.2183 1 32256691 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_P535L,Missense_P1055L,Missense_P1042L indel.2184 1 32256751 [I/D] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON exm40009 1 32257833 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_R475H,Missense_R982H,Missense_R982H exm40026 1 32259363 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_T333M,Missense_T840M,Missense_T840M exm40030 1 32259445 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_G306R,Missense_G813R,Missense_G813R exm40037 1 32259775 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_T271M,Missense_T778M,Missense_T778M exm40038 1 32259791 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_A266T,Missense_A773T,Missense_A773T exm40046 1 32262292 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Nonsense_Q217X,Nonsense_Q724X,Nonsense_Q724X exm1792735 1 32264191 [A/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_L120R,Missense_L627R,Missense_L627R exm40062 1 32265054 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_I99V,Missense_I606V,Missense_I606V exm40066 1 32265676 [T/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_P50T,Missense_P557T,Missense_P557T rs2184202 1 32277199 [A/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 Silent,Silent,Silent rs751137 1 32278308 [A/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 Silent,Silent,Silent exm40084 1 32279629 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_R436W,Missense_R436W rs6669563 1 32279629 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_R436W,Missense_R436W exm40098 1 32279845 [T/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_L364M,Missense_L364M exm40100 1 32279871 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_Q355R,Missense_Q355R exm40102 1 32279890 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_T349A,Missense_T349A exm40106 1 32280063 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_T291I,Missense_T291I exm40107 1 32280069 [G/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_P289R,Missense_P289R exm40110 1 32280190 [C/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_L249V,Missense_L249V exm40112 1 32280237 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_R233H,Missense_R233H exm1792757 1 32280367 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_P190S,Missense_P190S exm40118 1 32280369 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_P189L,Missense_P189L exm40129 1 32280610 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_T109A,Missense_T109A exm40131 1 32280660 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_R92Q,Missense_R92Q exm40132 1 32280699 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_R79Q,Missense_R79Q exm40133 1 32280724 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_R71W,Missense_R71W exm40135 1 32280787 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_G50R,Missense_G50R rs4949473 1 32296525 [T/C] rs11578323 1 32302108 [T/C] rs12565351 1 32311335 [A/C] rs7518553 1 32315147 [T/C] rs12565681 1 32322733 [T/C] rs11805047 1 32336784 [A/G] rs687605 1 32342334 [A/G] rs594540 1 32343368 [T/C] rs597987 1 32347171 [T/C] rs16834765 1 32371442 [T/C] rs639233 1 32372881 [T/C] NM_080391,NM_001195100,NM_001195101 PTP4A2,PTP4A2,PTP4A2 EXON Silent,Silent,Silent indel.2196 1 32374453 [D/I] NM_080391,NM_001195100,NM_001195101 PTP4A2,PTP4A2,PTP4A2 EXON variant.2197 1 32374497 [A/G] NM_080391,NM_001195100,NM_001195101 PTP4A2,PTP4A2,PTP4A2 EXON Nonsense_R154X,Nonsense_R129X,Nonsense_R123X exm2264817 1 32438234 [A/G] kgp2275913 1 32438515 [T/C] rs6662484 1 32497793 [A/G] NR_073499,NM_006559,NR_073498,NM_001271878 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 Silent,Silent,Silent,Silent rs16834840 1 32501043 [T/C] NR_073499,NM_006559,NR_073498,NM_001271878 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 Silent,Silent,Silent,Silent exm40173 1 32502626 [T/C] NR_073499,NM_006559,NR_073498,NM_001271878 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 EXON Silent,Missense_P296L,Silent,Missense_P257L exm40188 1 32508204 [C/G] NR_073499,NM_006559,NR_073498,NM_001271878 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 EXON Silent,Missense_E437D,Silent,Missense_E398D rs12089746 1 32542227 [T/C] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B Silent,Silent,Silent,Silent exm40198 1 32542819 [T/C] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B EXON Missense_R37C,Silent,Missense_R164C,Silent rs6672317 1 32554585 [A/G] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B Silent,Silent,Silent,Silent rs744455 1 32557486 [A/G] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B EXON Synonymous_S140S,Synonymous_S68S,Synonymous_S267S,Synonymous_S68S exm40221 1 32557607 [A/G] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B EXON Missense_V181M,Missense_V109M,Missense_V308M,Missense_V109M exm40233 1 32560559 [A/G] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B EXON Missense_V241M,Missense_V169M,Missense_V368M,Missense_V169M exm2277051 1 32560559 [G/C] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B EXON Missense_V241L,Missense_V169L,Missense_V368L,Missense_V169L exm40235 1 32566070 [T/G] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B EXON Missense_Q254H,Missense_Q182H,Missense_Q381H,Missense_Q182H exm40243 1 32568247 [T/G] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B EXON Missense_Q357H,Missense_Q285H,Missense_Q484H,Missense_Q285H kgp10497040 1 32575567 [T/C] NM_012316 KPNA6 Silent exm40264 1 32620194 [A/G] NM_012316 KPNA6 EXON Missense_M4V exm40269 1 32620269 [T/C] NM_012316 KPNA6 EXON Nonsense_R29X exm40272 1 32622496 [T/G] NM_012316 KPNA6 EXON Missense_A61S rs7538308 1 32627918 [T/C] NM_012316 KPNA6 Silent exm1793608 1 32635611 [A/G] NM_012316 KPNA6 EXON Missense_R458H exm40304 1 32636403 [A/G] NM_012316 KPNA6 EXON Missense_D507N exm2251372 1 32636450 [T/C] NM_012316 KPNA6 EXON Synonymous_F522F exm40306 1 32636450 [T/C] NM_012316 KPNA6 EXON Synonymous_F522F exm40317 1 32646092 [A/G] NM_175852 TXLNA EXON Missense_S49N exm40322 1 32646953 [A/G] NM_175852 TXLNA EXON Missense_G94S exm40327 1 32647062 [A/G] NM_175852 TXLNA EXON Missense_N130S exm40332 1 32647133 [G/C] NM_175852 TXLNA EXON Missense_R154G exm40334 1 32647161 [A/G] NM_175852 TXLNA EXON Missense_K163R exm40340 1 32653591 [T/C] NM_175852 TXLNA EXON Missense_L212F exm2251374 1 32655763 [T/C] NM_175852 TXLNA EXON Synonymous_N292N exm40356 1 32658009 [A/G] NM_175852 TXLNA EXON Missense_R354Q exm40371 1 32660697 [G/C] NM_175852 TXLNA EXON Missense_S514R rs16834926 1 32664866 [A/G] exm40380 1 32667609 [T/C] NM_024296,NM_001301011 CCDC28B,CCDC28B EXON Missense_R25W,Missense_R25W exm40382 1 32667627 [A/C] NM_024296,NM_001301011 CCDC28B,CCDC28B EXON Missense_T31P,Missense_T31P exm40391 1 32669645 [T/C] NM_024296,NM_001301011 CCDC28B,CCDC28B EXON Synonymous_F110F,Synonymous_F110F exm40400 1 32669918 [A/G] NM_024296,NM_001301011 CCDC28B,CCDC28B EXON Missense_G155R,Missense_G155R variant.2203 1 32669981 [A/G] NM_024296,NM_001301011 CCDC28B,CCDC28B Silent,Silent exm40411 1 32670842 [A/C] NM_024296,NM_001301011 CCDC28B,CCDC28B EXON Missense_A199D,Silent exm40422 1 32671801 [T/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_R110L,Missense_R30L var_1_32672109 1 32672109 [A/G] NM_001160042,NM_018134 IQCC,IQCC Silent,Silent exm40427 1 32672143 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_D154N,Missense_D74N exm40430 1 32672189 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_C169Y,Missense_C89Y exm40446 1 32672713 [T/C] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_R264C,Missense_R184C exm40452 1 32672908 [T/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_F289C,Missense_F209C rs3903683 1 32672908 [T/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_F289C,Missense_F209C exm40453 1 32672932 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_C297Y,Missense_C217Y exm40454 1 32672958 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_A306T,Missense_A226T exm2233180 1 32672985 [T/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_D315Y,Missense_D235Y exm40456 1 32673085 [T/C] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_I348T,Missense_I268T exm40462 1 32673184 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_G381E,Missense_G301E exm40468 1 32673381 [T/C] NM_001160042,NM_018134 IQCC,IQCC EXON Nonsense_R447X,Nonsense_R367X exm40469 1 32673382 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_R447Q,Missense_R367Q exm40474 1 32673460 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_S473N,Missense_S393N exm40477 1 32673514 [C/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_R491T,Missense_R411T exm40478 1 32673516 [A/C] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_S492R,Missense_S412R exm40479 1 32673540 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_E500K,Missense_E420K newrs138692176 1 32673584 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Nonsense_W514X,Nonsense_W434X exm40480 1 32673584 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Nonsense_W514X,Nonsense_W434X exm40482 1 32673625 [T/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_G528V,Missense_G448V exm40484 1 32673673 [T/C] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_P544L,Missense_P464L exm40501 1 32674915 [T/G] NM_001099434 DCDC2B EXON Missense_R74I exm40502 1 32674925 [A/T] NM_001099434 DCDC2B EXON Nonsense_Y77X exm40503 1 32674927 [T/C] NM_001099434 DCDC2B EXON Missense_V78A exm40505 1 32676873 [T/C] NM_001099434 DCDC2B EXON Synonymous_H89H exm40510 1 32677404 [T/C] NM_001099434 DCDC2B EXON Missense_R121W exm40511 1 32677405 [A/G] NM_001099434 DCDC2B EXON Missense_R121Q exm40512 1 32677420 [A/G] NM_001099434 DCDC2B EXON Missense_G126D exm40520 1 32678180 [A/G] NM_001099434 DCDC2B EXON Missense_K206R variant.2222 1 32680449 [T/C] NM_001099434,NR_133635,NR_133636 DCDC2B,TMEM234,TMEM234 EXON Nonsense_R256X,Silent,Silent exm40535 1 32680494 [T/C] NM_001099434,NR_133635,NR_133636 DCDC2B,TMEM234,TMEM234 EXON Nonsense_Q271X,Silent,Silent exm40536 1 32680530 [A/T] NM_001099434,NR_133635,NR_133636 DCDC2B,TMEM234,TMEM234 EXON Missense_S283T,Silent,Silent exm40538 1 32681069 [A/C] NM_001099434,NR_133635,NR_133636 DCDC2B,TMEM234,TMEM234 EXON Missense_H293Q,Silent,Silent exm40550 1 32682471 [T/G] NR_133635,NR_133636,NR_133634,NM_019118 TMEM234,TMEM234,TMEM234,TMEM234 EXON Silent,Silent,Silent,Missense_Q136K variant.2227 1 32682843 [T/G] NR_133635,NR_133636,NR_133634,NM_019118 TMEM234,TMEM234,TMEM234,TMEM234 Silent,Silent,Silent,Silent indel.2229 1 32682896 [I/D] NR_133635,NR_133636,NR_133634,NM_019118 TMEM234,TMEM234,TMEM234,TMEM234 EXON exm40559 1 32682896 [A/C] NR_133635,NR_133636,NR_133634,NM_019118 TMEM234,TMEM234,TMEM234,TMEM234 EXON Silent,Silent,Silent,Missense_V98F indel.2230 1 32682917 [D/I] NR_133635,NR_133636,NR_133634,NM_019118 TMEM234,TMEM234,TMEM234,TMEM234 EXON exm40564 1 32682947 [T/C] NR_133635,NR_133636,NR_133634,NM_019118 TMEM234,TMEM234,TMEM234,TMEM234 EXON Silent,Silent,Silent,Missense_T81A newrs146923152 1 32686800 [T/C] NR_133635,NR_133636,NR_133634,NM_019118 TMEM234,TMEM234,TMEM234,TMEM234 Silent,Silent,Silent,Silent variant.2233 1 32687500 [A/G] NR_133635,NR_133636,NR_133634,NM_019118,NM_003757 TMEM234,TMEM234,TMEM234,TMEM234,EIF3I EXON Silent,Silent,Silent,Nonsense_Q46X,Silent exm40578 1 32687616 [T/C] NR_133635,NR_133636,NR_133634,NM_019118,NM_003757 TMEM234,TMEM234,TMEM234,TMEM234,EIF3I EXON Silent,Silent,Silent,Missense_Q7R,Silent exm40583 1 32687914 [A/T] NR_133635,NR_133636,NR_133634,NM_019118,NM_003757 TMEM234,TMEM234,TMEM234,TMEM234,EIF3I EXON Silent,Silent,Silent,Missense_S4T,Silent exm40617 1 32694351 [A/T] NM_003757 EIF3I EXON Missense_E221D rs669538 1 32711360 [T/C] exm40629 1 32713033 [A/G] NM_032648 FAM167B EXON Missense_G4E exm40638 1 32713257 [A/G] NM_032648 FAM167B EXON Missense_A79T exm40643 1 32714047 [A/G] NM_032648 FAM167B EXON Missense_M113V exm40644 1 32714049 [A/G] NM_032648 FAM167B EXON Missense_M113I rs10914540 1 32715821 [A/G] rs12029438 1 32728364 [A/C] NM_001330468,NM_005356 LCK,LCK Silent,Silent exm40649 1 32740366 [A/G] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK EXON Missense_R45Q,Missense_R45Q,Missense_R45Q exm40651 1 32740393 [C/G] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK EXON Missense_S54C,Missense_S54C,Missense_S54C exm2251377 1 32741633 [T/C] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK EXON Synonymous_P200P,Synonymous_P200P,Synonymous_P200P exm40679 1 32745458 [A/C] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK EXON Missense_A302E,Missense_A353E,Missense_A353E rs11807976 1 32752074 [A/G] newrs145372036 1 32794717 [T/C] NM_004964 HDAC1 EXON Nonsense_R229X variant.2242 1 32797183 [A/G] NM_004964 HDAC1 EXON Missense_K363R exm40738 1 32797183 [A/G] NM_004964 HDAC1 EXON Missense_K363R exm40743 1 32797371 [A/G] NM_004964 HDAC1 EXON Missense_D395N exm2233186 1 32798310 [G/C] NM_004964 HDAC1 EXON Missense_E461Q exm40767 1 32800320 [T/C] NM_023009,NR_052852 MARCKSL1,MARCKSL1 EXON Missense_A156T,Silent exm40778 1 32800640 [A/G] NM_023009,NR_052852 MARCKSL1,MARCKSL1 EXON Missense_P49L,Silent rs7532909 1 32826793 [T/C] exm40789 1 32827385 [A/G] NM_001167676 FAM229A EXON Missense_A76V exm40794 1 32828349 [T/C] NM_052841 TSSK3 EXON Missense_I16T indel.2243 1 32828383 [I/D] NM_052841 TSSK3 EXON exm40803 1 32829261 [A/G] NM_052841 TSSK3 EXON Missense_I71V exm2233188 1 32829268 [T/C] NM_052841 TSSK3 EXON Missense_V73A exm40809 1 32829321 [A/G] NM_052841 TSSK3 EXON Missense_A91T exm40818 1 32829448 [A/G] NM_052841 TSSK3 EXON Missense_R133Q exm40828 1 32829642 [A/G] NM_052841 TSSK3 EXON Missense_V198M exm40840 1 32829807 [T/C] NM_052841 TSSK3 EXON Missense_R253W rs2273376 1 32832292 [A/G] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm40846 1 32834055 [A/G] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_S362F,Missense_S323F,Missense_S435F,Missense_S418F,Silent,Missense_S435F exm40850 1 32834137 [T/C] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_I335V,Missense_I296V,Missense_I408V,Missense_I391V,Silent,Missense_I408V exm40865 1 32842319 [T/C] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_I178V,Missense_I139V,Missense_I251V,Missense_I234V,Silent,Missense_I251V exm40867 1 32843606 [T/C] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_S158N,Missense_S119N,Missense_S231N,Missense_S214N,Silent,Missense_S231N exm40877 1 32844350 [T/G] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_S112Y,Missense_S73Y,Missense_S185Y,Missense_S168Y,Silent,Missense_S185Y exm40879 1 32846847 [A/G] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_S71L,Missense_S32L,Missense_S144L,Missense_S127L,Silent,Missense_S144L exm40886 1 32852429 [A/G] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_T47M,Silent,Missense_T47M,Missense_T47M,Silent,Missense_T47M rs16834976 1 32868273 [A/G] rs10914555 1 32879586 [T/C] rs11588809 1 32904611 [T/C] rs12144474 1 32913807 [A/G] exm40913 1 32937153 [A/G] NM_001145720 ZBTB8B EXON Missense_G310S exm2251389 1 32950719 [T/C] NM_001145720 ZBTB8B EXON Synonymous_R396R rs12140988 1 32960336 [A/G] exm2251390 1 32975903 [T/G] rs7516064 1 33012259 [T/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A Silent,Silent,Silent rs11588497 1 33030461 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A Silent,Silent,Silent rs10914577 1 33034876 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A Silent,Silent,Silent exm40927 1 33058596 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Missense_V22I,Missense_V22I variant.2251 1 33058707 [T/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Nonsense_E59X,Nonsense_E59X var_1_33059115 1 33059115 [T/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Nonsense_Q195X,Nonsense_Q195X exm1794381 1 33059197 [C/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Missense_T222S,Missense_T222S exm1794382 1 33059200 [A/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Missense_H223P,Missense_H223P exm40957 1 33059343 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Missense_K271E,Missense_K271E rs6678903 1 33062554 [T/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A Silent,Silent,Silent exm40964 1 33065688 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Silent,Missense_I332V exm40969 1 33065830 [T/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Silent,Missense_I379T exm40970 1 33065908 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Silent,Missense_E405G exm40972 1 33065947 [G/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Silent,Missense_G418A exm40975 1 33065962 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Silent,Missense_Q423R exm2268875 1 33068754 [T/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Silent,Silent rs16835041 1 33085244 [A/G] exm40987 1 33099564 [T/C] NM_001330475,NM_001308137,NM_001308138,NM_001308141,NM_001308139,NM_001308140,NM_001308136,NM_178547,NM_001308135 ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS EXON Missense_V42I,Missense_V83I,Missense_V21I,Missense_V21I,Missense_V21I,Missense_V21I,Missense_V90I,Missense_V90I,Missense_V83I exm40991 1 33099579 [A/G] NM_001330475,NM_001308137,NM_001308138,NM_001308141,NM_001308139,NM_001308140,NM_001308136,NM_178547,NM_001308135 ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS EXON Missense_L37F,Missense_L78F,Missense_L16F,Missense_L16F,Missense_L16F,Missense_L16F,Missense_L85F,Missense_L85F,Missense_L78F rs3954228 1 33100815 [T/C] NM_001330475,NM_001308137,NM_001308138,NM_001308141,NM_001308139,NM_001308140,NM_001308136,NM_178547,NM_001308135 ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm41007 1 33116103 [A/C] NM_001330475,NM_001308137,NM_001308138,NM_001308141,NM_001308139,NM_001308140,NM_001308136,NM_178547,NM_001308135 ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS EXON Silent,Missense_D22Y,Silent,Silent,Silent,Silent,Missense_D22Y,Missense_D22Y,Missense_D22Y indel.2255 1 33116148 [D/I] NM_001330475,NM_001308137,NM_001308138,NM_001308141,NM_001308139,NM_001308140,NM_001308136,NM_178547,NM_001308135 ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS EXON rs389409 1 33116544 [T/C] rs359955 1 33134774 [A/C] NM_001135255,NM_005610,NM_001135256 RBBP4,RBBP4,RBBP4 Silent,Silent,Silent exm2233193 1 33149890 [A/G] NM_001135255,NM_005610,NM_001135256,NM_030786,NM_001161708 RBBP4,RBBP4,RBBP4,SYNC,SYNC EXON Silent,Silent,Silent,Missense_L443F,Missense_L443F variant.2256 1 33160461 [T/C] NM_030786,NM_001161708 SYNC,SYNC Silent,Silent exm41072 1 33160510 [T/C] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_A397T,Missense_A397T exm41073 1 33160526 [T/G] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_N391K,Missense_N391K exm41081 1 33160653 [T/C] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_R349Q,Missense_R349Q exm41089 1 33160878 [T/C] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_R274Q,Missense_R274Q exm41092 1 33160912 [A/G] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_R263C,Missense_R263C exm41095 1 33161113 [A/G] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_L196F,Missense_L196F exm41098 1 33161212 [T/C] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_M163V,Missense_M163V rs419145 1 33179156 [A/G] rs359952 1 33187046 [T/C] rs644879 1 33215380 [T/C] NM_020888 KIAA1522 Silent exm41120 1 33233498 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P116S,Missense_P57S,Missense_P57S exm41129 1 33234254 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_S155F,Missense_S96F,Missense_S96F exm41134 1 33234293 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_C168Y,Missense_C109Y,Missense_C109Y exm1794649 1 33234307 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_S173P,Missense_S114P,Missense_S114P exm41137 1 33234352 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R188C,Missense_R129C,Missense_R129C exm2273629 1 33234353 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R188H,Missense_R129H,Missense_R129H exm41145 1 33235364 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P226L,Silent,Missense_P167L exm41146 1 33235371 [A/T] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_H228Q,Silent,Missense_H169Q exm41149 1 33235495 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R239C,Silent,Missense_R180C exm41157 1 33235651 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_M291V,Silent,Missense_M232V exm41158 1 33235660 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R294C,Silent,Missense_R235C exm41162 1 33235709 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_T310M,Silent,Missense_T251M exm41164 1 33235787 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_E336G,Silent,Missense_E277G exm41165 1 33235789 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P337S,Silent,Missense_P278S exm41194 1 33236255 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R492H,Silent,Missense_R433H exm1794682 1 33236285 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R502H,Silent,Missense_R443H exm41204 1 33236483 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R568Q,Silent,Missense_R509Q exm41212 1 33236624 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R615H,Silent,Missense_R556H exm41221 1 33236845 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_A689T,Silent,Missense_A630T exm41231 1 33237266 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P829L,Silent,Missense_P770L exm41237 1 33237346 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P856S,Silent,Missense_P797S exm41239 1 33237358 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P860S,Silent,Missense_P801S exm41251 1 33237659 [G/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P960R,Silent,Missense_P901R exm41278 1 33245024 [T/C] NM_003680 YARS EXON Missense_E479K exm1794719 1 33245687 [T/C] NM_003680 YARS EXON Missense_I445V exm41283 1 33245729 [A/T] NM_003680 YARS EXON Missense_M431L exm41286 1 33245792 [T/C] NM_003680 YARS EXON Missense_V410M exm41297 1 33248032 [T/C] NM_003680 YARS EXON Missense_A339T rs1765223 1 33256884 [A/C] NM_003680 YARS Silent rs10914614 1 33257919 [A/G] NM_003680 YARS Silent rs10798918 1 33275981 [T/C] NM_003680 YARS Silent variant.2264 1 33276660 [T/C] NM_003680 YARS Silent exm41354 1 33291942 [T/C] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_V81A,Missense_V81A,Silent,Silent exm41355 1 33291987 [A/G] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_R96Q,Missense_R96Q,Silent,Silent exm41357 1 33292008 [A/G] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_S103N,Missense_S103N,Silent,Silent exm41358 1 33292014 [A/G] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_G105E,Missense_G105E,Silent,Silent exm1794965 1 33292050 [G/C] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_P117R,Missense_P117R,Silent,Silent exm41376 1 33292442 [T/C] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_P248S,Missense_P248S,Silent,Silent exm41389 1 33295603 [A/G] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_Q320R,Missense_Q320R,Silent,Silent exm41391 1 33295664 [C/G] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_N340K,Missense_N340K,Silent,Silent rs10914625 1 33298822 [T/G] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP Silent,Silent,Silent,Silent exm1795106 1 33330302 [A/G] NM_001171940,NM_001171941,NM_153756 FNDC5,FNDC5,FNDC5 EXON Silent,Missense_T124I,Missense_T199I exm41406 1 33330344 [T/C] NM_001171940,NM_001171941,NM_153756 FNDC5,FNDC5,FNDC5 EXON Silent,Missense_N110S,Missense_N185S exm41407 1 33330377 [T/C] NM_001171940,NM_001171941,NM_153756 FNDC5,FNDC5,FNDC5 EXON Missense_R174H,Missense_R99H,Missense_R174H exm41410 1 33333378 [T/C] NM_001171940,NM_001171941,NM_153756 FNDC5,FNDC5,FNDC5 EXON Missense_V159I,Missense_V84I,Missense_V159I exm41413 1 33333401 [T/C] NM_001171940,NM_001171941,NM_153756 FNDC5,FNDC5,FNDC5 EXON Missense_R151Q,Missense_R76Q,Missense_R151Q exm41420 1 33333953 [T/C] NM_001171940,NM_001171941,NM_153756 FNDC5,FNDC5,FNDC5 EXON Missense_V83M,Missense_V8M,Missense_V83M exm2264818 1 33348442 [A/G] rs11811702 1 33350183 [A/G] variant.2267 1 33359230 [A/G] NM_002143 HPCA EXON Missense_G162S exm41441 1 33360429 [A/T] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Missense_S163C,Missense_S183C,Missense_S234C,Missense_S196C,Missense_S216C exm41456 1 33361013 [T/C] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Missense_A110T,Missense_A130T,Missense_A163T,Missense_A143T,Missense_A163T exm2233203 1 33361163 [T/C] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Missense_R98H,Missense_R118H,Missense_R151H,Missense_R131H,Missense_R151H exm41459 1 33361173 [T/C] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Missense_D95N,Missense_D115N,Missense_D148N,Missense_D128N,Missense_D148N exm41463 1 33361277 [A/G] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Silent,Silent,Missense_L113S,Missense_L93S,Missense_L113S exm41465 1 33361287 [A/G] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Silent,Silent,Missense_L110F,Missense_L90F,Missense_L110F exm41466 1 33361344 [G/C] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Silent,Silent,Missense_R91G,Missense_R71G,Missense_R91G exm41474 1 33361552 [T/C] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Silent,Missense_A77T,Missense_A77T,Silent,Missense_A77T exm41476 1 33363734 [A/G] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Missense_A68V,Missense_A68V,Missense_A68V,Missense_A68V,Missense_A68V exm41481 1 33363801 [T/C] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Missense_V46M,Missense_V46M,Missense_V46M,Missense_V46M,Missense_V46M rs8040 1 33402172 [T/C] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON Silent,Silent,Silent indel.2276 1 33402442 [D/I] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON exm41496 1 33402504 [A/G] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON Silent,Missense_A701V,Missense_A700V exm2251407 1 33402515 [T/C] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON Silent,Synonymous_S697S,Synonymous_S696S rs194640 1 33403481 [T/C] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B Silent,Silent,Silent exm41518 1 33407887 [T/C] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON Missense_G526S,Missense_G527S,Missense_G526S rs1149128 1 33408138 [T/G] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B Silent,Silent,Silent rs194644 1 33409551 [T/C] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B Silent,Silent,Silent exm41528 1 33411175 [T/C] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON Missense_I401V,Missense_I402V,Missense_I401V exm41529 1 33411194 [T/G] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON Missense_K394N,Missense_K395N,Missense_K394N rs1534893 1 33472942 [A/G] variant.2280 1 33478803 [T/G] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_K185N,Missense_K233N,Silent exm41567 1 33478841 [T/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 EXON Missense_A221T,Silent,Missense_A213T,Missense_A179T,Missense_A221T,Missense_A173T,Missense_A173T,Missense_A221T,Silent var_1_33479005 1 33479005 [T/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm41601 1 33480161 [T/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 EXON Missense_E154K,Silent,Missense_E146K,Missense_E112K,Missense_E154K,Missense_E106K,Missense_E106K,Missense_E154K,Missense_R122Q exm41604 1 33487007 [T/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 EXON Missense_S129N,Silent,Missense_S129N,Missense_S87N,Missense_S129N,Missense_S81N,Missense_S81N,Missense_S129N,Silent exm41606 1 33487277 [T/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 EXON Missense_I83V,Silent,Missense_I83V,Missense_I41V,Missense_I83V,Missense_I35V,Missense_I35V,Missense_I83V,Missense_I83V exm41608 1 33487300 [A/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 EXON Missense_S75I,Silent,Missense_S75I,Missense_S33I,Missense_S75I,Missense_S27I,Missense_S27I,Missense_S75I,Missense_S75I rs10753271 1 33496639 [T/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11811191 1 33536944 [T/C] rs3863724 1 33540443 [A/G] rs10429857 1 33543052 [A/G] exm41623 1 33547930 [C/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Silent,Silent,Missense_T27S,Silent,Missense_T27S,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T27S,Missense_T27S exm41642 1 33557731 [G/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_Q25H,Missense_Q25H,Missense_Q120H,Silent,Missense_Q120H,Missense_Q25H,Missense_Q25H,Silent,Missense_Q25H,Missense_Q25H,Silent,Silent,Missense_Q120H,Missense_Q120H exm41643 1 33557813 [T/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_P53S,Missense_P53S,Missense_P148S,Silent,Missense_P148S,Missense_P53S,Missense_P53S,Silent,Missense_P53S,Missense_P53S,Silent,Silent,Missense_P148S,Missense_P148S exm41647 1 33558992 [A/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_H93N,Missense_H93N,Missense_H188N,Silent,Missense_H188N,Missense_H93N,Missense_H93N,Silent,Missense_H93N,Missense_H93N,Silent,Missense_H37N,Missense_H188N,Missense_H188N exm41648 1 33558996 [A/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_H94P,Missense_H94P,Missense_H189P,Silent,Missense_H189P,Missense_H94P,Missense_H94P,Silent,Missense_H94P,Missense_H94P,Silent,Missense_H38P,Missense_H189P,Missense_H189P exm41658 1 33560210 [T/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_R122W,Missense_R122W,Missense_R217W,Silent,Missense_R217W,Missense_R122W,Missense_R122W,Silent,Missense_R122W,Missense_R122W,Silent,Missense_R66W,Missense_R217W,Missense_R217W exm41660 1 33560234 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_E130K,Missense_E130K,Missense_E225K,Silent,Missense_E225K,Missense_E130K,Missense_E130K,Silent,Missense_E130K,Missense_E130K,Silent,Missense_E74K,Missense_E225K,Missense_E225K exm41661 1 33560247 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_K134R,Missense_K134R,Missense_K229R,Silent,Missense_K229R,Missense_K134R,Missense_K134R,Silent,Missense_K134R,Missense_K134R,Silent,Missense_K78R,Missense_K229R,Missense_K229R exm41664 1 33560294 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_A150T,Missense_A150T,Missense_A245T,Silent,Missense_A245T,Missense_A150T,Missense_A150T,Silent,Missense_A150T,Missense_A150T,Silent,Missense_A94T,Missense_A245T,Missense_A245T exm41667 1 33562312 [T/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_A158V,Missense_A158V,Missense_A253V,Silent,Missense_A253V,Missense_A158V,Missense_A158V,Silent,Missense_A158V,Missense_A158V,Silent,Missense_A102V,Missense_A253V,Missense_A253V exm41676 1 33562416 [T/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_A193S,Missense_A193S,Missense_A288S,Silent,Missense_A288S,Missense_A193S,Missense_A193S,Silent,Missense_A193S,Missense_A193S,Silent,Missense_A137S,Missense_A288S,Missense_A288S exm41678 1 33562469 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Synonymous_E210E,Synonymous_E210E,Synonymous_E305E,Silent,Synonymous_E305E,Synonymous_E210E,Synonymous_E210E,Silent,Synonymous_E210E,Synonymous_E210E,Silent,Synonymous_E154E,Synonymous_E305E,Synonymous_E305E exm41683 1 33563718 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_V228M,Missense_V228M,Missense_V323M,Silent,Missense_V323M,Missense_V228M,Missense_V228M,Silent,Missense_V228M,Missense_V228M,Silent,Missense_V172M,Missense_V323M,Missense_V343M exm41687 1 33583504 [A/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NM_001350402,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_K249T,Missense_K249T,Missense_K344T,Silent,Missense_K344T,Missense_K249T,Missense_K249T,Silent,Missense_K249T,Missense_K249T,Missense_K193T,Missense_K364T exm41693 1 33583572 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NM_001350402,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_V272M,Missense_V272M,Missense_V367M,Silent,Missense_V367M,Missense_V272M,Missense_V272M,Silent,Missense_V272M,Missense_V272M,Missense_V216M,Missense_V387M exm41696 1 33583621 [T/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NM_001350402,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_V288G,Missense_V288G,Missense_V383G,Silent,Missense_V383G,Missense_V288G,Missense_V288G,Silent,Missense_V288G,Missense_V288G,Missense_V232G,Missense_V403G exm41697 1 33583633 [T/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NM_001350402,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_M292T,Missense_M292T,Missense_M387T,Silent,Missense_M387T,Missense_M292T,Missense_M292T,Silent,Missense_M292T,Missense_M292T,Missense_M236T,Missense_M407T exm41708 1 33585671 [T/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NM_001350402,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_A329V,Missense_A329V,Missense_A424V,Silent,Missense_A424V,Missense_A329V,Missense_A329V,Silent,Missense_A329V,Missense_A329V,Missense_A273V,Missense_A444V exm41711 1 33585691 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NM_001350402,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_V336M,Missense_V336M,Missense_V431M,Silent,Missense_V431M,Missense_V336M,Missense_V336M,Silent,Missense_V336M,Missense_V336M,Missense_V280M,Missense_V451M rs689187 1 33611890 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Silent,Silent rs3766813 1 33612508 [A/G] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Silent,Silent exm41720 1 33612789 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_V473I,Missense_V352I exm41721 1 33612800 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_R469Q,Missense_R348Q exm41722 1 33612827 [A/G] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_A460V,Missense_A339V exm41727 1 33612978 [A/G] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_R410W,Missense_R289W exm41735 1 33613055 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_R384H,Missense_R263H exm2251412 1 33613249 [A/G] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Synonymous_Y319Y,Synonymous_Y198Y rs3912145 1 33614162 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 Silent,Silent exm41755 1 33625328 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_R241Q,Missense_R120Q exm41756 1 33625329 [A/G] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_R241W,Missense_R120W exm41757 1 33625332 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_D240N,Missense_D119N exm41758 1 33625344 [T/G] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_L236M,Missense_L115M exm41764 1 33625445 [A/G] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_A202V,Missense_A81V exm41766 1 33625490 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_R187Q,Missense_R66Q exm41768 1 33625515 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_G179S,Missense_G58S exm2251414 1 33631087 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Synonymous_Q163Q,Synonymous_Q42Q exm41773 1 33631124 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_R151Q,Missense_R30Q rs622407 1 33646950 [A/G] NM_018207 TRIM62 EXON Synonymous_H28H rs1498319 1 33684101 [T/C] rs12045968 1 33690698 [T/G] rs7540951 1 33694810 [T/C] rs7534724 1 33710429 [A/G] rs1566230 1 33719642 [T/C] rs10914671 1 33723652 [T/C] NM_152493 ZNF362 Silent exm41806 1 33745781 [A/G] NM_152493 ZNF362 EXON Missense_A136T exm41812 1 33745937 [G/C] NM_152493 ZNF362 EXON Missense_P188A rs10914677 1 33749027 [A/G] NM_152493 ZNF362 Silent exm41834 1 33764585 [A/G] NM_152493 ZNF362 EXON Missense_S401G exm41836 1 33764618 [A/G] NM_152493 ZNF362 EXON Missense_G412S rs4653002 1 33770526 [T/C] rs4653015 1 33776431 [T/C] NM_001080438 A3GALT2 Silent rs7264 1 33789382 [T/C] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 EXON Silent,Silent,Silent variant.2294 1 33794530 [A/G] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 EXON Missense_P788L,Missense_P760L,Missense_P253L exm41909 1 33794564 [A/G] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 EXON Missense_R777W,Missense_R749W,Missense_R242W rs16835363 1 33795053 [T/C] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 Silent,Silent,Silent exm2251422 1 33796081 [A/C] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 Silent,Silent,Silent rs4361958 1 33796554 [A/G] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 Silent,Silent,Silent exm41947 1 33799858 [A/G] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 EXON Missense_L531F,Missense_L503F,Silent rs4233199 1 33819562 [T/C] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 Silent,Silent,Silent exm41954 1 33820016 [A/G] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 EXON Missense_P514L,Missense_P486L,Silent exm41964 1 33820134 [T/C] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 EXON Missense_V475M,Missense_V447M,Silent exm41965 1 33820146 [T/C] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 EXON Missense_D471N,Missense_D443N,Silent exm41968 1 33820513 [T/C] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 EXON Missense_V440M,Missense_V411M,Silent exm41977 1 33820632 [A/G] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 EXON Missense_P400L,Missense_P371L,Silent exm41979 1 33820731 [T/C] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 EXON Missense_R367Q,Missense_R338Q,Silent exm41998 1 33832782 [A/G] NM_198040,NM_001330488 PHC2,PHC2 EXON Missense_M304T,Missense_M275T exm41999 1 33832798 [T/G] NM_198040,NM_001330488 PHC2,PHC2 EXON Missense_S299R,Missense_S270R rs6425816 1 33832865 [A/G] NM_198040,NM_001330488 PHC2,PHC2 EXON Synonymous_P276P,Synonymous_P247P exm1795915 1 33832873 [T/C] NM_198040,NM_001330488 PHC2,PHC2 EXON Missense_A274T,Missense_A245T exm42006 1 33832933 [A/G] NM_198040,NM_001330488 PHC2,PHC2 EXON Missense_P254S,Missense_P225S exm42007 1 33832941 [A/G] NM_198040,NM_001330488 PHC2,PHC2 EXON Missense_A251V,Missense_A222V exm42016 1 33836164 [A/G] NM_198040,NM_001330488 PHC2,PHC2 EXON Missense_A145V,Missense_A145V rs12127097 1 33850890 [T/C] rs1535917 1 33861853 [A/G] rs12137943 1 33867447 [A/C] rs6661037 1 33872593 [T/C] rs6663355 1 33877808 [T/C] rs10914706 1 33886888 [A/C] rs10914716 1 33905230 [T/C] rs10914731 1 33934824 [A/G] rs6425820 1 33936347 [T/C] exm42041 1 33944993 [A/G] NM_145238 ZSCAN20 EXON Missense_K35R exm42043 1 33945011 [A/G] NM_145238 ZSCAN20 EXON Missense_R41H exm42044 1 33945026 [A/G] NM_145238 ZSCAN20 EXON Missense_G46D rs7531293 1 33947467 [T/C] NM_145238 ZSCAN20 Silent exm42061 1 33954167 [A/C] NM_145238 ZSCAN20 EXON Missense_Q174K exm42071 1 33955178 [A/G] NM_145238 ZSCAN20 EXON Missense_D248N exm42074 1 33955193 [A/G] NM_145238 ZSCAN20 EXON Missense_V253M exm42085 1 33956900 [T/C] NM_145238 ZSCAN20 EXON Missense_R348W exm42091 1 33956976 [T/C] NM_145238 ZSCAN20 EXON Missense_L373P rs3795419 1 33957130 [A/C] NM_145238 ZSCAN20 EXON Synonymous_A424A exm42100 1 33957140 [A/C] NM_145238 ZSCAN20 EXON Missense_P428T exm42103 1 33957152 [T/G] NM_145238 ZSCAN20 EXON Missense_Y432D exm42107 1 33957267 [T/C] NM_145238 ZSCAN20 EXON Missense_I470T rs9662260 1 33957773 [T/C] NM_145238 ZSCAN20 Silent exm42116 1 33958910 [A/G] NM_145238 ZSCAN20 EXON Missense_R523Q exm42127 1 33960031 [A/G] NM_145238 ZSCAN20 EXON Missense_K696R exm42132 1 33960082 [A/C] NM_145238 ZSCAN20 EXON Missense_D713A exm42133 1 33960087 [T/G] NM_145238 ZSCAN20 EXON Missense_C715G exm42137 1 33960171 [T/G] NM_145238 ZSCAN20 EXON Missense_C743G exm1796201 1 33960663 [A/G] NM_145238 ZSCAN20 EXON Missense_E907K exm42156 1 33960715 [T/C] NM_145238 ZSCAN20 EXON Missense_T924I exm42162 1 33960901 [T/C] NM_145238 ZSCAN20 EXON Missense_P986L rs3816922 1 33980084 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Silent,Silent rs2131776 1 33984970 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42169 1 33985177 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_T3613A,Missense_T3469A exm42183 1 33988963 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_P3485S,Missense_P3341S exm42187 1 33988996 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_H3474Y,Missense_H3330Y exm42190 1 33990500 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V3460M,Missense_V3316M exm42193 1 33990586 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G3431E,Missense_G3287E exm42198 1 33992823 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R3403W,Missense_R3259W rs10798962 1 33993669 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42210 1 33998799 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_T3341M,Missense_T3197M exm42211 1 33999413 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_T3325N,Missense_T3181N exm42213 1 33999455 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_S3311F,Missense_S3167F rs923879 1 33999809 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42222 1 34003089 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R3251H,Missense_R3107H exm1796277 1 34003176 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R3222H,Missense_R3078H rs12729472 1 34004912 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42230 1 34006182 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_A3192T,Missense_A3048T exm42235 1 34006739 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V3150I,Missense_V3006I exm42244 1 34008403 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R3065Q,Missense_R2921Q exm42254 1 34011702 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R3012Q,Missense_R2868Q exm42259 1 34011799 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G2980S,Missense_G2836S exm42264 1 34015851 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2948H,Missense_R2804H exm42266 1 34015872 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2941Q,Missense_R2797Q rs2794606 1 34019467 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs933044 1 34026479 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs923882 1 34029070 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1493994 1 34030514 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42272 1 34033273 [C/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_A2767G,Missense_A2744G exm42277 1 34033352 [A/T] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_T2741S,Missense_T2718S rs5007951 1 34034649 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42279 1 34034977 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_L2710F,Missense_L2712F exm42282 1 34035009 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_N2699S,Missense_N2701S exm42284 1 34035105 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2667H,Missense_R2669H exm42285 1 34035114 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_N2664S,Missense_N2666S exm42290 1 34035130 [C/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_L2659V,Missense_L2661V exm42293 1 34037185 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2635H,Missense_R2637H exm42298 1 34037294 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V2599M,Missense_V2601M exm42303 1 34038214 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_M2552V,Missense_M2554V exm42304 1 34038260 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_K2536N,Missense_K2538N rs10914746 1 34039844 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs6701268 1 34041191 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs16835617 1 34042245 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs729176 1 34042560 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42308 1 34042937 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_Q2512R,Missense_Q2514R newrs142035256 1 34043086 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs292809 1 34046066 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42315 1 34046406 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2445H,Missense_R2447H rs11586497 1 34051242 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs721306 1 34051436 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42323 1 34052119 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_P2346S,Missense_P2348S exm42329 1 34052721 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_E2302K,Missense_E2304K rs2781790 1 34054862 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42338 1 34066506 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2272H,Missense_R2274H exm42342 1 34066566 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2252Q,Missense_R2254Q exm42343 1 34066567 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2252W,Missense_R2254W exm42344 1 34066576 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V2249I,Missense_V2251I exm42353 1 34068098 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_P2194L,Missense_P2196L exm42355 1 34068114 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G2189S,Missense_G2191S exm42368 1 34071065 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_E2117K,Missense_E2119K exm42372 1 34071489 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Silent,Missense_V2108G exm42374 1 34071493 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Silent,Missense_Y2107H exm2233220 1 34071507 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Silent,Missense_P2102R exm42377 1 34071525 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Silent,Missense_R2096K rs1874045 1 34071525 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Silent,Missense_R2096K exm42382 1 34076667 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2106Q,Missense_R2066Q exm42387 1 34076740 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_E2082K,Missense_E2042K variant.2308 1 34080099 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42397 1 34080121 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_A2039V,Missense_A1999V rs10914755 1 34082279 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42408 1 34083216 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Synonymous_T1943T,Synonymous_T1903T exm42418 1 34090145 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V1867M,Missense_V1827M exm42421 1 34090660 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_T1831A,Missense_T1791A exm1796402 1 34090665 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_A1829E,Missense_A1789E exm42423 1 34090696 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_P1819S,Missense_P1779S exm42430 1 34090765 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_I1796V,Missense_I1756V exm42437 1 34092131 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_A1751T,Missense_A1711T exm42441 1 34099057 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_S1722L,Missense_S1682L exm42447 1 34100871 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_Q1677K,Missense_Q1637K rs1690553 1 34109200 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42469 1 34112263 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V1587I,Missense_V1547I exm1796425 1 34112395 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_D1543N,Missense_D1503N exm42495 1 34128652 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V1365M,Missense_V1325M rs649214 1 34150551 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs668310 1 34156533 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42498 1 34158543 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G1347S,Missense_G1307S exm42502 1 34158655 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Synonymous_A1309A,Synonymous_A1269A exm42504 1 34164368 [C/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_L1304V,Missense_L1264V exm42512 1 34166210 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G1214R,Missense_G1174R exm42514 1 34166249 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_A1201T,Missense_A1161T rs609347 1 34166626 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42518 1 34174789 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_N1159S,Missense_N1119S rs10914766 1 34175928 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10914767 1 34177600 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs565953 1 34178508 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42526 1 34180264 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R1110H,Missense_R1070H rs16835742 1 34180842 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs7533254 1 34181830 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs528059 1 34186193 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs544991 1 34189429 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs667892 1 34189552 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm2233233 1 34190185 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_L939S,Missense_L899S exm2251442 1 34190199 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Synonymous_D934D,Synonymous_D894D exm42554 1 34190239 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_N921S,Missense_N881S exm42556 1 34190951 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_E898D,Missense_E858D exm1796680 1 34190962 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_L895F,Missense_L855F exm2251443 1 34192255 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Synonymous_S800S,Synonymous_S760S rs652391 1 34202162 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42576 1 34204887 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_K741R,Missense_K701R rs481776 1 34205859 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs475622 1 34207470 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm2268876 1 34208399 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42585 1 34209004 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V684I,Missense_V644I rs4578181 1 34210532 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs6682875 1 34213109 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs545122 1 34213238 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs989661 1 34217931 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs474474 1 34238283 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_H578R,Missense_H538R exm42603 1 34238283 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_H578R,Missense_H538R rs479938 1 34238852 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs476463 1 34248064 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm-rs476463 1 34248064 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs9887778 1 34250957 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12133088 1 34251481 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42608 1 34254272 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_N531S,Missense_N491S exm42612 1 34254288 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_L526V,Missense_L486V rs10737373 1 34257471 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42617 1 34258060 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G505D,Missense_G465D exm42619 1 34258088 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G496S,Missense_G456S rs12408037 1 34270187 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10737374 1 34270498 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42630 1 34276432 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_S453L,Missense_S413L rs3845473 1 34282691 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42638 1 34286107 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_I388V,Missense_I348V rs2281595 1 34287512 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12096149 1 34288935 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42648 1 34291367 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_Q348K,Missense_Q308K rs1321623 1 34306705 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs2180745 1 34313983 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs753893 1 34322237 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1158145 1 34323487 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42661 1 34329929 [T/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_S46L,Silent exm42667 1 34330046 [A/G] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_R85Q,Missense_R11Q exm42668 1 34330067 [A/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_E92A,Missense_E18A exm42669 1 34330070 [T/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_P93L,Missense_P19L exm42672 1 34330096 [A/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_L102I,Missense_L28I exm42675 1 34330137 [A/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_N115K,Missense_N41K exm42677 1 34330200 [C/G] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_D136E,Missense_D62E exm42688 1 34330273 [T/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_R161C,Missense_R87C exm42690 1 34330300 [T/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_Y170H,Missense_Y96H exm42691 1 34330321 [T/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_R177W,Missense_R103W rs10914802 1 34345249 [T/C] NM_001281956,NM_052896,NR_038372 CSMD2,CSMD2,CSMD2-AS1 Silent,Silent,Silent rs12058145 1 34347846 [A/G] NM_001281956,NM_052896,NR_038372 CSMD2,CSMD2,CSMD2-AS1 Silent,Silent,Silent rs10799004 1 34358476 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm-rs2281597 1 34359858 [C/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10799006 1 34362665 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs7528354 1 34366411 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1570089 1 34369245 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm2264819 1 34372503 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs911216 1 34375199 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs7533958 1 34382423 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10799010 1 34396256 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42707 1 34401453 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_L207P,Missense_L167P exm42711 1 34401554 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Synonymous_V173V,Synonymous_V133V rs513617 1 34413398 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs504471 1 34418942 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12063356 1 34427308 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12128266 1 34432484 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs6663957 1 34437596 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs502199 1 34438881 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs749733 1 34443688 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12127584 1 34444230 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs4408120 1 34446139 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs520226 1 34456109 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs533861 1 34463451 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs487472 1 34470308 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1325258 1 34477581 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10914839 1 34477893 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs2358756 1 34479922 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1465782 1 34488578 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12562296 1 34489758 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1550164 1 34495028 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10914850 1 34496094 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs2625684 1 34505115 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs899378 1 34515330 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs6425872 1 34524849 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs6700561 1 34525105 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs9425986 1 34541724 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42719 1 34554603 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_P127A,Missense_P87A exm42722 1 34554680 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_Q101R,Missense_Q61R rs9425991 1 34564086 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs6665353 1 34564936 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1382600 1 34574691 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs11581276 1 34586161 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs7551988 1 34590285 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs771150 1 34606984 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12755908 1 34617256 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10914880 1 34620770 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs7552457 1 34625898 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42736 1 34631356 [A/C] NM_052896 CSMD2 EXON Missense_R20I rs1771365 1 34659156 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent exm42746 1 34662836 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Missense_L111F exm42750 1 34662914 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Missense_V137I exm42751 1 34662919 [A/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Missense_E138D exm42757 1 34663143 [A/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_A23D,Missense_A213D exm2251459 1 34663180 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Synonymous_R35R,Synonymous_R225R rs3795412 1 34663180 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Synonymous_R35R,Synonymous_R225R exm42765 1 34663208 [G/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_Q45E,Missense_Q235E exm42768 1 34663340 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_G89R,Missense_G279R exm42773 1 34663411 [G/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_D112E,Missense_D302E exm42777 1 34663482 [A/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_A136D,Missense_A326D rs1564276 1 34665132 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent exm42779 1 34666374 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Synonymous_E147E,Synonymous_E337E exm42795 1 34666582 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_G217R,Missense_G407R exm42796 1 34666589 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_P219L,Missense_P409L exm42804 1 34667724 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_K247R,Missense_K437R exm42805 1 34667736 [T/A] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_N251I,Missense_N441I exm42806 1 34667772 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_S263L,Missense_S453L exm42808 1 34667802 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_N273S,Missense_N463S rs297804 1 34671355 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs13375367 1 34672699 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs297802 1 34674814 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent exm42816 1 34677815 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_M320T,Missense_M510T exm42826 1 34678007 [T/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_G384V,Missense_G574V rs4652997 1 34679066 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs705207 1 34684463 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Silent rs1061074 1 34684621 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Silent rs12043879 1 34686130 [A/C] rs1414472 1 34697488 [A/G] rs2795634 1 34714693 [T/C] rs771410 1 34723163 [A/G] rs771404 1 34726167 [A/G] rs771400 1 34727902 [A/G] rs10914896 1 34735938 [A/G] rs1414470 1 34736287 [A/G] rs6677202 1 34748645 [T/C] rs6704508 1 34756509 [T/G] rs1404350 1 34764974 [A/C] rs12130968 1 34790866 [T/G] rs10914915 1 34796092 [A/G] rs1342160 1 34804499 [A/G] rs4652836 1 34806304 [T/C] rs10799047 1 34809587 [A/C] rs12064632 1 34821831 [T/C] rs2049420 1 34823560 [A/G] rs7537783 1 34830640 [T/C] rs1736476 1 34835180 [T/G] rs17380703 1 34844208 [T/C] rs705197 1 34844836 [A/G] rs2092028 1 34872737 [A/G] rs7530700 1 34879050 [T/C] rs6693232 1 34883744 [T/C] rs1883109 1 34892913 [A/C] rs17385253 1 34895009 [T/C] rs7533470 1 34896603 [A/G] rs2142534 1 34900172 [A/G] rs4653032 1 34902910 [A/C] rs10753308 1 34907148 [A/G] rs10914953 1 34919266 [T/C] rs2075933 1 34921075 [T/C] rs4653037 1 34922823 [T/C] rs7544781 1 34928441 [T/C] rs798075 1 34936992 [T/C] rs3845483 1 34962846 [A/G] rs4652841 1 34967241 [A/G] rs6694043 1 34982041 [A/G] rs10914967 1 34989237 [A/G] rs4653052 1 34992037 [A/C] rs4595337 1 34995974 [A/G] rs10737381 1 34996413 [T/C] rs12136079 1 35013586 [A/G] rs6425900 1 35029632 [A/G] rs10799069 1 35043986 [A/G] exm2251474 1 35049252 [A/G] rs10914983 1 35049332 [A/G] rs12074036 1 35050334 [A/C] rs728447 1 35058148 [A/C] rs7528705 1 35065969 [T/G] rs6695510 1 35085870 [A/G] rs4653067 1 35088484 [A/C] rs2093880 1 35093593 [T/G] rs6425904 1 35094871 [A/G] rs7548924 1 35095368 [T/C] rs10914996 1 35095609 [A/G] rs12132123 1 35095652 [A/C] rs12140922 1 35114647 [A/C] rs10915010 1 35122523 [T/C] rs912537 1 35127074 [A/G] rs1177663 1 35152490 [T/C] rs12136236 1 35159799 [T/C] rs4320749 1 35161802 [A/G] rs17473524 1 35170315 [T/C] rs684524 1 35183638 [A/G] rs10489658 1 35185845 [T/C] rs9426007 1 35208698 [T/C] rs692923 1 35218077 [T/C] exm42858 1 35222995 [T/C] NM_005268 GJB5 EXON Missense_R22C exm42859 1 35223025 [T/C] NM_005268 GJB5 EXON Missense_R32C exm42867 1 35223118 [A/G] NM_005268 GJB5 EXON Missense_V63I exm42872 1 35223223 [T/C] NM_005268 GJB5 EXON Missense_R98W exm42873 1 35223224 [A/G] NM_005268 GJB5 EXON Missense_R98Q rs3738345 1 35223345 [A/G] NM_005268 GJB5 EXON Synonymous_K138K exm42885 1 35223361 [A/G] NM_005268 GJB5 EXON Missense_A144T exm42891 1 35223502 [A/G] NM_005268 GJB5 EXON Missense_V191M exm42892 1 35223509 [T/C] NM_005268 GJB5 EXON Missense_T193I exm42901 1 35223719 [A/G] NM_005268 GJB5 EXON Missense_R263H rs2093185 1 35224312 [T/G] exm42909 1 35226892 [A/G] NM_153212 GJB4 EXON Missense_V13M exm42915 1 35226949 [T/C] NM_153212 GJB4 EXON Missense_R32C exm42917 1 35226964 [A/G] NM_153212 GJB4 EXON Missense_V37M exm42932 1 35227062 [C/G] NM_153212 GJB4 EXON Missense_F69L exm42936 1 35227078 [T/C] NM_153212 GJB4 EXON Missense_R75C exm42937 1 35227079 [A/G] NM_153212 GJB4 EXON Missense_R75H exm42939 1 35227093 [T/C] NM_153212 GJB4 EXON Nonsense_Q80X exm42941 1 35227109 [T/C] NM_153212 GJB4 EXON Missense_T85M exm42944 1 35227147 [T/C] NM_153212 GJB4 EXON Missense_R98C exm42951 1 35227162 [T/C] NM_153212 GJB4 EXON Missense_R103C exm42958 1 35227226 [A/G] NM_153212 GJB4 EXON Missense_R124Q exm42961 1 35227239 [A/G] NM_153212 GJB4 EXON Nonsense_W128X exm42962 1 35227241 [A/G] NM_153212 GJB4 EXON Nonsense_W129X exm42963 1 35227244 [T/C] NM_153212 GJB4 EXON Missense_T130M exm42967 1 35227276 [A/G] NM_153212 GJB4 EXON Missense_V141M exm2251479 1 35227350 [T/C] NM_153212 GJB4 EXON Synonymous_S165S exm42977 1 35227362 [C/G] NM_153212 GJB4 EXON Missense_C169W exm42980 1 35227397 [T/C] NM_153212 GJB4 EXON Missense_T181M exm42984 1 35227466 [A/C] NM_153212 GJB4 EXON Missense_E204A exm42989 1 35227522 [T/C] NM_153212 GJB4 EXON Missense_R223W rs10489656 1 35231378 [A/G] rs639126 1 35239992 [T/C] rs1764405 1 35246297 [A/G] exm43007 1 35250457 [T/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_R32W,Missense_R32W exm43009 1 35250472 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_V37M,Missense_V37M exm43011 1 35250486 [T/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_E41D,Missense_E41D exm43016 1 35250550 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_V63I,Missense_V63I exm1798193 1 35250613 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_V84I,Missense_V84I exm43024 1 35250643 [A/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_H94N,Missense_H94N exm43029 1 35250671 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_R103H,Missense_R103H exm43030 1 35250674 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_R104Q,Missense_R104Q indel.2346 1 35250784 [I/D] NM_024009,NM_001005752 GJB3,GJB3 EXON exm43043 1 35250842 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_R160H,Missense_R160H exm43047 1 35250892 [T/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_Y177D,Missense_Y177D exm2275321 1 35250901 [T/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Nonsense_R180X,Nonsense_R180X exm43048 1 35250910 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_E183K,Missense_E183K exm43051 1 35250943 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_A194T,Missense_A194T exm43056 1 35250961 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_V200I,Missense_V200I exm1798210 1 35251009 [T/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Nonsense_R216X,Nonsense_R216X exm43060 1 35251033 [C/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_R224G,Missense_R224G exm43064 1 35251075 [A/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_T238P,Missense_T238P exm43067 1 35251154 [T/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_A264V,Missense_A264V rs483721 1 35253376 [T/C] rs4653091 1 35257416 [A/G] exm43084 1 35260202 [A/G] NM_002060 GJA4 EXON Missense_V130I exm43100 1 35260527 [A/G] NM_002060 GJA4 EXON Missense_R238Q exm43113 1 35260760 [A/G] NM_002060 GJA4 EXON Missense_G316S exm43114 1 35260769 [T/C] NM_002060 GJA4 EXON Missense_P319S exm43115 1 35260773 [T/C] NM_002060 GJA4 EXON Missense_P320L exm43116 1 35260779 [A/G] NM_002060 GJA4 EXON Missense_R322H rs564226 1 35265770 [T/G] rs1407135 1 35282297 [A/G] rs7526035 1 35289039 [A/G] rs6689081 1 35301579 [T/C] rs11264125 1 35302617 [T/C] rs11264139 1 35303369 [A/G] rs12239410 1 35304381 [A/C] exm43164 1 35334283 [T/C] NM_001080418 DLGAP3 EXON Missense_R803Q rs11264126 1 35342095 [A/G] NM_001080418 DLGAP3 Silent exm43213 1 35351706 [T/G] NM_001080418 DLGAP3 EXON Missense_T523P rs6662980 1 35360078 [A/G] NM_001080418 DLGAP3 Silent exm2233245 1 35365779 [T/C] NM_001080418 DLGAP3 EXON Missense_M401I exm43238 1 35370053 [T/C] NM_001080418 DLGAP3 EXON Missense_R311H exm43251 1 35370204 [A/C] NM_001080418 DLGAP3 EXON Missense_W261G exm2273630 1 35370344 [A/G] NM_001080418 DLGAP3 EXON Missense_P214L exm43261 1 35370419 [A/G] NM_001080418 DLGAP3 EXON Missense_A189V exm43267 1 35370549 [T/C] NM_001080418 DLGAP3 EXON Missense_A146T rs4652869 1 35378934 [T/G] NM_001080418 DLGAP3 Silent rs6694435 1 35379119 [T/C] NM_001080418 DLGAP3 Silent rs10908403 1 35379493 [A/G] NM_001080418 DLGAP3 Silent rs6699355 1 35384605 [T/C] NM_001080418 DLGAP3 Silent exm2268877 1 35384605 [T/C] NM_001080418 DLGAP3 Silent rs10437318 1 35403677 [A/C] rs11263859 1 35428428 [T/G] rs4072108 1 35444037 [T/C] NR_037869 LOC653160 Silent exm43298 1 35447598 [C/G] NM_001195156 TMEM35B EXON Missense_V138L rs6688091 1 35451539 [A/C] exm43329 1 35453651 [A/C] NM_007167 ZMYM6 EXON Missense_F1011C exm43335 1 35453771 [T/G] NM_007167 ZMYM6 EXON Missense_N971T variant.2362 1 35453952 [A/G] NM_007167 ZMYM6 EXON Nonsense_Q911X exm43355 1 35454473 [G/C] NM_007167 ZMYM6 EXON Missense_R737T exm43357 1 35454498 [A/C] NM_007167 ZMYM6 EXON Missense_D729Y exm43361 1 35457895 [T/C] NM_007167 ZMYM6 EXON Missense_V696I exm43365 1 35457971 [A/C] NM_007167 ZMYM6 EXON Missense_D670E exm43367 1 35469582 [T/C] NM_007167 ZMYM6 EXON Missense_K660R variant.2363 1 35470728 [A/C] NM_007167 ZMYM6 Silent exm43368 1 35470798 [T/C] NM_007167 ZMYM6 EXON Missense_S630N variant.2364 1 35472675 [A/G] NM_007167 ZMYM6 EXON Nonsense_R564X exm43383 1 35474493 [C/G] NM_007167 ZMYM6 EXON Missense_E509Q exm43391 1 35476384 [A/G] NM_007167 ZMYM6 EXON Missense_T439I exm43398 1 35476544 [T/C] NM_007167 ZMYM6 EXON Missense_V386M exm43400 1 35476588 [A/G] NM_007167 ZMYM6 EXON Missense_S371F exm43405 1 35476609 [T/G] NM_007167 ZMYM6 EXON Missense_N364T exm43413 1 35478154 [A/G] NM_007167 ZMYM6 EXON Missense_L275P exm43419 1 35480426 [T/C] NM_007167 ZMYM6 EXON Missense_K223E exm43420 1 35480455 [T/C] NM_007167 ZMYM6 EXON Missense_H213R exm43421 1 35480456 [A/G] NM_007167 ZMYM6 EXON Missense_H213Y exm43432 1 35485065 [T/C] NM_007167 ZMYM6 EXON Missense_Y106C exm43435 1 35485128 [A/G] NM_007167 ZMYM6 EXON Missense_A85V exm43437 1 35485152 [T/C] NM_007167 ZMYM6 EXON Missense_S77N exm43438 1 35485167 [A/G] NM_007167 ZMYM6 EXON Missense_A72V exm43439 1 35485203 [G/C] NM_007167 ZMYM6 EXON Missense_A60G exm43440 1 35486022 [T/G] NM_007167 ZMYM6 EXON Missense_K47T exm1798677 1 35496149 [T/C] NM_007167 ZMYM6 EXON Missense_Q31R exm43444 1 35496159 [C/G] NM_007167 ZMYM6 EXON Missense_D28H exm43447 1 35496174 [T/C] NM_007167 ZMYM6 EXON Missense_I23V variant.2366 1 35496192 [A/G] NM_007167 ZMYM6 EXON Nonsense_Q17X kgp11705169 1 35497529 [A/G] NM_007167 ZMYM6 EXON Silent kgp15841491 1 35503107 [T/G] rs6425930 1 35556013 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 Silent,Silent,Silent,Silent,Silent,Silent exm43448 1 35559598 [A/C] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_P4T,Missense_P4T,Missense_P4T,Silent,Silent,Missense_P4T variant.2367 1 35559685 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 Silent,Silent,Silent,Silent,Silent,Silent var_1_35561494 1 35561494 [T/C] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 Silent,Silent,Silent,Silent,Silent,Silent exm43457 1 35562965 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_V73M,Missense_V73M,Missense_V73M,Silent,Silent,Missense_V73M rs2971408 1 35562965 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_V73M,Missense_V73M,Missense_V73M,Silent,Silent,Missense_V73M indel.2370 1 35570346 [I/D] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON rs4411101 1 35571417 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 Silent,Silent,Silent,Silent,Silent,Silent exm43481 1 35577702 [T/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_V373L,Missense_V354L,Missense_V373L,Missense_V13L,Missense_V298L,Missense_V373L exm43494 1 35578752 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_K441E,Missense_K422E,Missense_K441E,Missense_K81E,Missense_K366E,Missense_K441E exm43496 1 35578792 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_R454Q,Missense_R435Q,Missense_R454Q,Missense_R94Q,Missense_R379Q,Missense_R454Q exm43497 1 35578846 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_K472R,Missense_K453R,Missense_K472R,Missense_K112R,Missense_K397R,Missense_K472R exm2273631 1 35578909 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_E493G,Missense_E474G,Missense_E493G,Missense_E133G,Missense_E418G,Missense_E493G exm43514 1 35579565 [A/C] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_H712N,Missense_H693N,Missense_H712N,Missense_H352N,Missense_H637N,Missense_H712N exm43517 1 35579678 [T/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_F749L,Missense_F730L,Missense_F749L,Missense_F389L,Missense_F674L,Missense_F749L exm43521 1 35579751 [T/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_L774V,Missense_L755V,Missense_L774V,Missense_L414V,Missense_L699V,Missense_L774V exm43523 1 35579797 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_R789Q,Missense_R770Q,Missense_R789Q,Missense_R429Q,Missense_R714Q,Missense_R789Q exm43525 1 35579869 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_D813G,Missense_D794G,Missense_D813G,Missense_D453G,Missense_D738G,Missense_D813G exm43539 1 35580483 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_K1018E,Missense_K999E,Missense_K1018E,Missense_K658E,Missense_K943E,Missense_K1018E exm43548 1 35580706 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_R1092H,Missense_R1073H,Missense_R1092H,Missense_R732H,Missense_R1017H,Missense_R1092H variant.2375 1 35580819 [T/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Nonsense_E1130X,Nonsense_E1111X,Nonsense_E1130X,Nonsense_E770X,Nonsense_E1055X,Nonsense_E1130X exm43553 1 35580837 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_I1136V,Missense_I1117V,Missense_I1136V,Missense_I776V,Missense_I1061V,Missense_I1136V rs6425939 1 35628789 [A/G] rs12064550 1 35635453 [A/C] exm2264999 1 35636227 [A/G] rs9783066 1 35644484 [T/C] NR_136702,NR_136703 SFPQ,SFPQ Silent,Silent rs10493066 1 35646125 [T/C] NR_136702,NR_136703 SFPQ,SFPQ Silent,Silent rs3738694 1 35648316 [T/C] NR_136702,NR_136703 SFPQ,SFPQ Silent,Silent exm43561 1 35652634 [T/C] NR_136702,NR_136703,NM_005066 SFPQ,SFPQ,SFPQ EXON Silent,Silent,Missense_T652A exm-rs11264115 1 35656664 [A/G] NR_136702,NR_136703,NM_005066 SFPQ,SFPQ,SFPQ Silent,Silent,Silent rs7543044 1 35674311 [A/G] exm-rs673604 1 35687815 [T/C] rs673604 1 35687815 [T/C] rs593461 1 35709777 [A/G] rs522821 1 35741663 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent rs10908390 1 35743797 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent rs544621 1 35772867 [A/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent rs12075713 1 35776603 [T/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent rs645886 1 35818291 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent exm43699 1 35824639 [A/C] NM_005095,NM_001350138,NM_001350140,NM_001350139,NR_046659 ZMYM4,ZMYM4,ZMYM4,ZMYM4,ZMYM4-AS1 EXON Missense_L67M,Missense_L35M,Silent,Silent,Silent exm43701 1 35824694 [T/G] NM_005095,NM_001350138,NM_001350140,NM_001350139,NR_046659 ZMYM4,ZMYM4,ZMYM4,ZMYM4,ZMYM4-AS1 EXON Missense_V85G,Missense_V53G,Silent,Silent,Silent exm43702 1 35824706 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139,NR_046659 ZMYM4,ZMYM4,ZMYM4,ZMYM4,ZMYM4-AS1 EXON Missense_N89S,Missense_N57S,Silent,Silent,Silent exm43703 1 35824753 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139,NR_046659 ZMYM4,ZMYM4,ZMYM4,ZMYM4,ZMYM4-AS1 EXON Missense_I105V,Missense_I73V,Silent,Silent,Silent exm2268673 1 35833787 [T/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent exm43727 1 35835984 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_T313A,Missense_T281A,Silent,Silent exm43741 1 35847032 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_V452I,Missense_V420I,Missense_V128I,Missense_V128I exm43745 1 35847342 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_I518V,Missense_I486V,Missense_I194V,Missense_I194V exm43746 1 35847346 [T/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_T519M,Missense_T487M,Missense_T195M,Missense_T195M exm1798822 1 35852791 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_H675R,Missense_H643R,Missense_H351R,Missense_H351R exm43764 1 35852842 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_R692H,Missense_R660H,Missense_R368H,Missense_R368H exm43766 1 35853110 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_N723S,Missense_N691S,Missense_N399S,Missense_N399S indel.2376 1 35854643 [D/I] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON exm43787 1 35858280 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_G921S,Missense_G889S,Missense_G597S,Missense_G597S exm43794 1 35862185 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_V982M,Missense_V950M,Missense_V658M,Missense_V658M exm2273632 1 35863134 [G/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_L1063V,Missense_L1031V,Missense_L739V,Missense_L739V rs12040345 1 35864571 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Synonymous_Q1120Q,Synonymous_Q1088Q,Synonymous_Q796Q,Synonymous_Q796Q exm43815 1 35870639 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_I1182V,Missense_I1150V,Missense_I858V,Missense_I858V exm43816 1 35870649 [T/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_V1185G,Missense_V1153G,Missense_V861G,Missense_V861G exm43823 1 35870777 [C/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_G1228R,Missense_G1196R,Missense_G904R,Missense_G904R exm43827 1 35871036 [G/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_L1255V,Missense_L1223V,Missense_L931V,Missense_L931V exm43829 1 35873611 [T/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_R1267C,Missense_R1235C,Missense_R943C,Missense_R943C exm43843 1 35881138 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_V1378I,Missense_V1346I,Missense_V1054I,Missense_V1054I exm1798848 1 35884083 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_D1450G,Missense_D1418G,Missense_D1126G,Missense_D1126G exm43856 1 35900520 [T/C] NM_024874 KIAA0319L EXON Missense_R1042K rs10157108 1 35900725 [A/C] NM_024874 KIAA0319L Silent exm43870 1 35907899 [T/C] NM_024874 KIAA0319L EXON Missense_I940V rs2275247 1 35908451 [T/C] NM_024874 KIAA0319L Silent variant.2379 1 35909762 [T/C] NM_024874 KIAA0319L EXON Missense_T886A exm1798860 1 35913808 [T/C] NM_024874 KIAA0319L EXON Missense_I827V exm43885 1 35913889 [T/C] NM_024874 KIAA0319L EXON Missense_V800I exm43889 1 35915492 [A/G] NM_024874 KIAA0319L EXON Missense_R777W exm43900 1 35919165 [T/C] NM_024874 KIAA0319L EXON Missense_K636E rs12563006 1 35919461 [T/G] NM_024874 KIAA0319L Silent rs10796920 1 35919979 [A/G] NM_024874 KIAA0319L EXON Synonymous_T588T variant.2381 1 35928313 [T/C] NM_024874 KIAA0319L EXON Synonymous_E401E exm43935 1 35940497 [T/G] NM_024874 KIAA0319L EXON Missense_E308D exm43936 1 35944573 [A/G] NM_024874 KIAA0319L EXON Missense_Y303H exm43940 1 35944752 [T/C] NM_024874 KIAA0319L EXON Missense_G243D exm1798894 1 35944780 [T/C] NM_024874 KIAA0319L EXON Missense_T234A rs11264164 1 35966914 [T/C] NM_024874 KIAA0319L Silent exm43944 1 35972250 [T/C] NM_024874 KIAA0319L EXON Missense_N210S exm43966 1 36020085 [T/G] NM_024874 KIAA0319L EXON Missense_K3T exm43970 1 36023817 [T/C] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Silent,Missense_A9V,Missense_A9V exm43990 1 36026317 [A/G] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_G172S,Missense_G189S,Missense_G189S exm43999 1 36026509 [A/G] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_V236M,Missense_V253M,Missense_V253M exm2233264 1 36026749 [T/G] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_V316L,Missense_V333L,Missense_V333L exm44009 1 36026872 [T/G] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_A357S,Missense_A374S,Missense_A374S exm44012 1 36028198 [T/C] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_T433I,Missense_T450I,Missense_T450I exm44036 1 36030912 [T/C] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_P596L,Missense_P613L,Missense_P613L exm44075 1 36040566 [G/C] NM_178548 TFAP2E EXON Missense_G176A exm44081 1 36053996 [A/G] NM_178548 TFAP2E EXON Missense_G210S exm44087 1 36054078 [T/C] NM_178548 TFAP2E EXON Missense_T237M exm44098 1 36055616 [A/G] NM_178548 TFAP2E EXON Missense_A291T exm44100 1 36055638 [T/C] NM_178548 TFAP2E EXON Missense_S298L exm44104 1 36056243 [A/G] NM_178548 TFAP2E EXON Missense_V305M exm44106 1 36056256 [A/G] NM_178548 TFAP2E EXON Missense_R309Q exm44108 1 36056280 [T/C] NM_178548 TFAP2E EXON Missense_T317M exm44110 1 36056327 [A/G] NM_178548 TFAP2E EXON Missense_A333T exm44114 1 36056349 [A/G] NM_178548 TFAP2E EXON Missense_S340N exm44116 1 36060035 [T/C] NM_178548 TFAP2E EXON Missense_R363C exm44117 1 36060036 [A/G] NM_178548 TFAP2E EXON Missense_R363H exm44120 1 36060056 [T/C] NM_178548 TFAP2E EXON Missense_R370C exm44127 1 36068872 [T/G] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 EXON Missense_S176Y,Missense_S84Y,Missense_S201Y rs10489761 1 36069746 [T/C] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 Silent,Silent,Silent exm44137 1 36074906 [A/G] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 EXON Missense_A105V,Missense_A13V,Missense_A130V exm44140 1 36074927 [A/G] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 EXON Missense_A98V,Missense_A6V,Missense_A123V rs10908401 1 36082395 [A/C] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 Silent,Silent,Silent rs10908402 1 36095920 [T/C] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 Silent,Silent,Silent rs534436 1 36115139 [A/G] rs7367713 1 36156432 [T/C] rs12563583 1 36167456 [A/C] exm44162 1 36181316 [C/G] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_D203H,Missense_D203H exm1799051 1 36181354 [T/C] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_Q190R,Missense_Q190R exm44171 1 36181480 [A/G] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_A148V,Missense_A148V exm44174 1 36181502 [T/C] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_D141N,Missense_D141N exm44177 1 36181522 [T/G] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_P134Q,Missense_P134Q exm44180 1 36181610 [A/C] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_C105G,Missense_C105G exm44187 1 36181807 [A/G] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_A39V,Missense_A39V exm44188 1 36181813 [C/G] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_A37G,Missense_A37G exm2273633 1 36181816 [A/C] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_M36R,Missense_M36R exm44195 1 36181910 [A/G] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Nonsense_Q5X,Nonsense_Q5X rs6425954 1 36197297 [T/C] NM_001330490 CLSPN Silent variant.2396 1 36202126 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Silent,Nonsense_R1267X,Nonsense_R1331X variant.2397 1 36202510 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN Silent,Silent,Silent exm44205 1 36202585 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_S1280L,Missense_S1216L,Missense_S1280L exm44207 1 36202965 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_A1241V,Missense_A1177V,Missense_A1241V exm44210 1 36203016 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_R1224H,Missense_R1160H,Missense_R1224H exm2275267 1 36204057 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_M1186T,Missense_M1122T,Missense_M1186T exm44220 1 36204178 [A/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_A1146S,Missense_A1082S,Missense_A1146S indel.2398 1 36204966 [I/D] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON exm1799107 1 36208757 [T/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_K1043T,Missense_K979T,Missense_K1043T variant.2400 1 36211145 [T/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Nonsense_S958X,Nonsense_S894X,Nonsense_S958X exm44239 1 36211151 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_P956L,Missense_P892L,Missense_P956L exm44243 1 36212547 [T/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_P892T,Missense_P828T,Missense_P892T exm44249 1 36213640 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_P832L,Missense_P768L,Missense_P832L exm44255 1 36214065 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_G805R,Missense_G741R,Missense_G805R exm44257 1 36214104 [T/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_Q792K,Missense_Q728K,Missense_Q792K exm44258 1 36214130 [A/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_I783S,Missense_I719S,Missense_I783S exm44259 1 36214133 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_T782M,Missense_T718M,Missense_T782M exm44266 1 36215075 [T/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_S755R,Missense_S691R,Missense_S755R exm1799127 1 36217000 [A/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_G627W,Missense_G563W,Missense_G627W exm44287 1 36219385 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_A578T,Silent,Missense_A578T exm2251506 1 36219455 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Synonymous_N554N,Silent,Synonymous_N554N exm44293 1 36219517 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_R534C,Silent,Missense_R534C exm2273635 1 36219528 [T/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_A530D,Silent,Missense_A530D exm44294 1 36225948 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_N525S,Missense_N525S,Missense_N525S exm44300 1 36226120 [A/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_D468Y,Missense_D468Y,Missense_D468Y exm44301 1 36226161 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_H454R,Missense_H454R,Missense_H454R exm44306 1 36226317 [A/T] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_V402E,Missense_V402E,Missense_V402E exm44309 1 36226419 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_T368I,Missense_T368I,Missense_T368I exm44310 1 36226432 [A/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_G364C,Missense_G364C,Missense_G364C exm44316 1 36226755 [C/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_D316H,Missense_D316H,Missense_D316H exm1799139 1 36226782 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_H307Y,Missense_H307Y,Missense_H307Y exm44317 1 36226785 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_Y306H,Missense_Y306H,Missense_Y306H exm1799141 1 36227601 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_R298Q,Missense_R298Q,Missense_R298Q exm44320 1 36227664 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_K277R,Missense_K277R,Missense_K277R exm44336 1 36230196 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_E85K,Missense_E85K,Missense_E85K exm44341 1 36230258 [T/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_D64A,Missense_D64A,Missense_D64A exm44344 1 36230839 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_I38T,Missense_I38T,Missense_I38T exm44351 1 36230911 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_N14S,Missense_N14S,Missense_N14S exm44354 1 36235452 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_S7F,Missense_S7F,Missense_S7F exm44355 1 36235455 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_G6D,Missense_G6D,Missense_G6D exm44356 1 36235464 [G/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_G3A,Missense_G3A,Missense_G3A rs10908410 1 36242028 [A/G] rs12076840 1 36256339 [T/C] rs12044203 1 36276399 [T/C] NR_146062,NM_017629 AGO4,AGO4 Silent,Silent rs727005 1 36281336 [A/G] NR_146062,NM_017629 AGO4,AGO4 Silent,Silent indel.2402 1 36291075 [I/D] NR_146062,NM_017629 AGO4,AGO4 EXON exm44373 1 36291389 [A/G] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Missense_M200V exm44379 1 36297090 [T/A] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Missense_Q304L exm44384 1 36297673 [A/G] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Missense_M378V variant.2403 1 36298080 [T/C] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Nonsense_R430X exm44393 1 36299761 [A/G] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Missense_K517R variant.2404 1 36299775 [T/G] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Missense_A522S indel.2406 1 36301525 [I/D] NR_146062,NM_017629 AGO4,AGO4 EXON exm44395 1 36306879 [A/C] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Missense_H613P exm44404 1 36307020 [A/G] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Missense_R660H exm44423 1 36319100 [T/C] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Missense_A827V exm44431 1 36354031 [C/G] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 EXON Silent,Missense_A10G,Missense_A10G rs636832 1 36363475 [A/G] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 Silent,Silent,Silent exm44475 1 36380971 [A/C] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 EXON Missense_H544P,Missense_H619P,Missense_H619P rs11263835 1 36381622 [T/C] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 Silent,Silent,Silent rs3738356 1 36383716 [T/C] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 Silent,Silent,Silent rs6665591 1 36411737 [A/G] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent exm1799256 1 36432651 [A/G] NM_177422,NM_024852 AGO3,AGO3 EXON Silent,Missense_N96S rs614235 1 36450565 [A/G] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent variant.2411 1 36474378 [T/C] NM_177422,NM_024852 AGO3,AGO3 EXON Missense_T60I,Missense_T294I exm44529 1 36474520 [A/G] NM_177422,NM_024852 AGO3,AGO3 EXON Missense_G68S,Missense_G302S exm44537 1 36474632 [A/C] NM_177422,NM_024852 AGO3,AGO3 EXON Missense_Y105S,Missense_Y339S exm44542 1 36479642 [A/G] NM_177422,NM_024852 AGO3,AGO3 EXON Missense_I233V,Missense_I467V exm44549 1 36499817 [A/C] NM_177422,NM_024852 AGO3,AGO3 EXON Missense_T311K,Missense_T545K exm44551 1 36499843 [A/G] NM_177422,NM_024852 AGO3,AGO3 EXON Missense_I320V,Missense_I554V rs491603 1 36532316 [T/C] rs12034450 1 36548997 [A/G] rs3754076 1 36549157 [A/G] exm44587 1 36550608 [A/G] NM_014466 TEKT2 EXON Missense_Q29R exm44589 1 36550643 [A/G] NM_014466 TEKT2 EXON Missense_E41K exm44591 1 36550658 [T/C] NM_014466 TEKT2 EXON Missense_R46C variant.2412 1 36550772 [A/G] NM_014466 TEKT2 EXON Nonsense_W55X exm44598 1 36550788 [A/G] NM_014466 TEKT2 EXON Missense_R61G exm44601 1 36550851 [C/G] NM_014466 TEKT2 EXON Missense_L82V exm44604 1 36550875 [A/G] NM_014466 TEKT2 EXON Missense_D90N indel.2413 1 36550884 [D/I] NM_014466 TEKT2 EXON exm44606 1 36551494 [A/G] NM_014466 TEKT2 EXON Missense_I114V exm44607 1 36551495 [T/C] NM_014466 TEKT2 EXON Missense_I114T exm44613 1 36551587 [A/G] NM_014466 TEKT2 EXON Missense_E145K exm44616 1 36552305 [A/C] NM_014466 TEKT2 EXON Nonsense_C163X exm44621 1 36552346 [A/G] NM_014466 TEKT2 EXON Missense_R177Q exm1799343 1 36552436 [A/G] NM_014466 TEKT2 EXON Missense_R207H exm44627 1 36552439 [T/C] NM_014466 TEKT2 EXON Missense_V208A exm44629 1 36552447 [A/G] NM_014466 TEKT2 EXON Missense_G211S exm1799344 1 36552448 [A/G] NM_014466 TEKT2 EXON Missense_G211D exm44632 1 36552585 [T/C] NM_014466 TEKT2 EXON Missense_A229V variant.2421 1 36552804 [A/G] NM_014466 TEKT2 Silent exm44640 1 36552858 [T/G] NM_014466 TEKT2 EXON Missense_K267N exm1799351 1 36552901 [A/C] NM_014466 TEKT2 EXON Missense_Q282K variant.2422 1 36552917 [A/G] NM_014466 TEKT2 Silent exm44644 1 36553092 [A/C] NM_014466 TEKT2 EXON Missense_D303A exm44648 1 36553330 [A/C] NM_014466 TEKT2 EXON Missense_A334E exm44649 1 36553338 [A/G] NM_014466 TEKT2 EXON Missense_G337S exm44653 1 36553359 [A/C] NM_014466 TEKT2 EXON Missense_Q344K exm44657 1 36553608 [T/C] NM_014466 TEKT2 EXON Missense_R372W exm44658 1 36553609 [A/G] NM_014466 TEKT2 EXON Missense_R372Q exm44662 1 36553672 [T/C] NM_014466 TEKT2 EXON Missense_T393I exm1799359 1 36553686 [A/G] NM_014466 TEKT2 EXON Missense_T398A exm44665 1 36553689 [A/G] NM_014466 TEKT2 EXON Missense_V399M exm1799360 1 36553752 [A/G] NM_014466 TEKT2 EXON Missense_S420G rs3767703 1 36555758 [T/C] NM_017825 ADPRHL2 Silent rs768000 1 36556867 [T/C] NM_017825 ADPRHL2 EXON Synonymous_D78D exm44691 1 36557307 [T/C] NM_017825 ADPRHL2 EXON Missense_R133C exm44698 1 36557413 [A/G] NM_017825 ADPRHL2 EXON Missense_Q168R exm44709 1 36557619 [A/G] NM_017825 ADPRHL2 EXON Missense_E209K exm44710 1 36557644 [A/G] NM_017825 ADPRHL2 EXON Missense_G217D exm44715 1 36558040 [A/G] NM_017825 ADPRHL2 EXON Missense_R240H exm44723 1 36558902 [T/C] NM_017825 ADPRHL2 EXON Missense_P336L exm44725 1 36558968 [T/G] NM_017825 ADPRHL2 EXON Missense_R358L exm44727 1 36558985 [T/G] NM_017825 ADPRHL2 EXON Missense_X364G exm44736 1 36563279 [T/C] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Missense_R668Q,Missense_R603Q exm44746 1 36563467 [T/G] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Nonsense_Y605X,Nonsense_Y540X exm44763 1 36563583 [T/C] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Missense_G567S,Missense_G502S rs274754 1 36565617 [A/G] NM_005202,NM_001294347 COL8A2,COL8A2 Silent,Silent exm44826 1 36565714 [T/C] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Missense_I44V,Silent exm44841 1 36565837 [T/C] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Missense_G3R,Silent exm2264821 1 36571920 [A/G] NM_005202,NM_001294347 COL8A2,COL8A2 Silent,Silent rs274759 1 36572161 [T/G] NM_005202,NM_001294347 COL8A2,COL8A2 Silent,Silent rs274132 1 36581978 [T/C] NM_005202,NM_001294347 COL8A2,COL8A2 Silent,Silent rs4653160 1 36599547 [T/C] rs1408558 1 36601717 [A/C] exm44848 1 36603427 [A/C] NM_001270895,NM_014408,NM_001270896,NR_073098,NR_073097,NM_001270894,NM_001270897 TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3 EXON Missense_L85F,Missense_L131F,Missense_L85F,Silent,Silent,Missense_L139F,Missense_L65F exm44868 1 36636671 [T/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_P49L,Missense_P49L,Missense_P49L exm44878 1 36636835 [T/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R104W,Missense_R104W,Missense_R104W exm44880 1 36636854 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R110Q,Missense_R110Q,Missense_R110Q rs795047 1 36637708 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 Silent,Silent,Silent exm44883 1 36638089 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_E162G,Missense_E162G,Missense_E162G exm44890 1 36638146 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R181Q,Missense_R181Q,Missense_R181Q exm44894 1 36638206 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R201Q,Missense_R201Q,Missense_R201Q exm44902 1 36639040 [T/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_A234S,Missense_A234S,Missense_A234S exm1799434 1 36640516 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_V253M,Missense_V253M,Silent exm44909 1 36640565 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R269Q,Missense_R269Q,Silent exm44923 1 36642316 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_K418E,Missense_K386E,Missense_K381E exm44925 1 36642361 [T/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R433W,Missense_R401W,Missense_R396W exm44941 1 36643685 [A/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R531S,Missense_R499S,Missense_R494S exm44942 1 36643703 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_K537E,Missense_K505E,Missense_K500E exm44967 1 36644619 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R708H,Missense_R676H,Missense_R671H exm44973 1 36645144 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_N739S,Missense_N706S,Missense_N701S exm44977 1 36645291 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R752Q,Missense_R719Q,Missense_R714Q exm2233283 1 36645615 [T/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_A821V,Missense_A788V,Missense_A783V rs272817 1 36646491 [A/G] rs11811679 1 36652411 [A/G] rs11812037 1 36652619 [T/C] rs6680302 1 36653540 [A/G] rs522468 1 36653677 [T/G] kgp5651257 1 36653717 [A/G] rs11263868 1 36715732 [T/C] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent exm44995 1 36748237 [T/C] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_R25C,Missense_R25C,Missense_R25C rs6425977 1 36752433 [T/C] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_A201V,Missense_A201V,Missense_A201V exm45028 1 36752742 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_H304R,Missense_H304R,Missense_H304R rs7533278 1 36753664 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent exm45037 1 36754769 [C/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_L383F,Missense_L383F,Missense_L383F exm45038 1 36754784 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_M388I,Missense_M388I,Missense_M388I exm45043 1 36754979 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_M453I,Missense_M453I,Missense_M453I exm45054 1 36755361 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_A581T,Missense_A581T,Missense_A581T exm45057 1 36757052 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_R608H,Missense_R608H,Missense_R608H exm45060 1 36758211 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_G644E,Missense_G644E,Missense_G644E variant.2437 1 36759541 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent exm2265000 1 36764770 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent rs9659735 1 36765912 [T/C] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent rs12401872 1 36769917 [T/C] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Silent,Silent,Silent exm45110 1 36773761 [G/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_P197R,Missense_P86R exm45127 1 36785343 [T/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_A360V,Missense_A249V exm45128 1 36785393 [A/G] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_I377V,Missense_I266V exm45145 1 36785787 [T/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_S508L,Missense_S397L exm45153 1 36785853 [A/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_A530D,Missense_A419D exm45169 1 36786144 [A/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_E627A,Missense_E516A variant.2448 1 36786194 [T/G] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Nonsense_E644X,Nonsense_E533X exm45176 1 36786272 [T/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_L670F,Missense_L559F exm45180 1 36786303 [A/G] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_Y680C,Missense_Y569C exm45185 1 36786521 [A/G] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_K714R,Missense_K603R exm45187 1 36786568 [T/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_R730W,Missense_R619W exm45199 1 36788023 [T/C] NM_001304762,NR_130899,NM_018166 EVA1B,EVA1B,EVA1B EXON Missense_R124Q,Silent,Missense_R124Q exm45200 1 36788078 [A/C] NM_001304762,NR_130899,NM_018166 EVA1B,EVA1B,EVA1B EXON Missense_G106W,Silent,Missense_G106W rs12116935 1 36789546 [A/G] NM_018166 EVA1B EXON Silent exm2251523 1 36807416 [A/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Synonymous_D416D,Synonymous_D416D,Synonymous_D421D exm45228 1 36807481 [T/C] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Missense_A395T,Missense_A395T,Missense_A400T exm45253 1 36809737 [T/C] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Missense_E290K,Missense_E290K,Missense_E295K exm45260 1 36819966 [T/C] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Missense_R208G,Missense_R208G,Missense_R213G exm45283 1 36823881 [T/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Missense_H101N,Missense_H101N,Missense_H106N exm1799609 1 36823938 [C/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Missense_E82Q,Missense_E82Q,Missense_E87Q exm45295 1 36826827 [A/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Missense_I36T,Missense_I36T,Missense_I36T exm45302 1 36826905 [A/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Missense_A10V,Missense_A10V,Missense_A10V exm45311 1 36859483 [T/C] NM_032881 LSM10 EXON Missense_H83R exm1799621 1 36859487 [T/C] NM_032881 LSM10 EXON Missense_V82I exm2251525 1 36859629 [A/C] NM_032881 LSM10 EXON Synonymous_R34R rs4653185 1 36861854 [A/C] NM_032881 LSM10 Silent rs4653186 1 36862929 [T/G] NM_032881 LSM10 Silent rs6696875 1 36867363 [T/C] rs16822823 1 36874242 [A/G] rs883805 1 36878024 [A/C] rs13375417 1 36883090 [T/G] variant.2454 1 36884587 [T/C] NM_145047,NM_001330493 OSCP1,OSCP1 Silent,Silent exm45337 1 36886095 [T/G] NM_145047,NM_001330493 OSCP1,OSCP1 EXON Missense_T314N,Missense_T324N exm45339 1 36886117 [T/C] NM_145047,NM_001330493 OSCP1,OSCP1 EXON Missense_G307R,Missense_G317R exm45348 1 36887813 [A/C] NM_145047,NM_001330493 OSCP1,OSCP1 EXON Missense_V253L,Missense_V263L exm45352 1 36888462 [A/G] NM_145047,NM_001330493 OSCP1,OSCP1 EXON Missense_I219T,Missense_I229T exm45356 1 36889025 [A/G] NM_145047,NM_001330493 OSCP1,OSCP1 EXON Missense_R187C,Missense_R197C exm45359 1 36893930 [T/C] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 EXON Silent,Silent,Nonsense_W221X indel.2456 1 36893953 [I/D] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 EXON exm45360 1 36893968 [A/G] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 EXON Silent,Silent,Missense_Y209H exm45368 1 36897459 [T/C] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 EXON Missense_E154K,Missense_E164K,Missense_E154K rs6696986 1 36897803 [A/G] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 Silent,Silent,Silent exm45373 1 36898067 [T/C] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 EXON Missense_T131A,Missense_T141A,Missense_T131A exm45380 1 36904406 [T/C] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 EXON Missense_R73H,Missense_R83H,Missense_R73H exm45382 1 36904409 [T/C] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 EXON Missense_E72G,Missense_E82G,Missense_E72G rs953517 1 36910277 [T/C] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 Silent,Silent,Silent exm45392 1 36915872 [T/G] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 EXON Missense_D33E,Missense_D33E,Missense_D33E rs1538634 1 36921371 [T/G] NM_031280 MRPS15 EXON Silent 1KG_1_36921845 1 36921845 [D/I] NM_031280 MRPS15 EXON exm2233289 1 36921853 [A/C] NM_031280 MRPS15 EXON Missense_F191V exm45411 1 36921868 [C/G] NM_031280 MRPS15 EXON Missense_G186R exm45418 1 36921912 [A/C] NM_031280 MRPS15 EXON Missense_R171L exm1799661 1 36921980 [T/C] NM_031280 MRPS15 Silent variant.2466 1 36926296 [A/G] NM_031280 MRPS15 EXON Nonsense_R128X exm45429 1 36926868 [C/G] NM_031280 MRPS15 EXON Missense_N99K exm45438 1 36927735 [A/G] NM_031280 MRPS15 EXON Missense_P69S rs3806289 1 36929988 [T/C] NM_031280 MRPS15 EXON Silent exm2251528 1 36931973 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Synonymous_A832A,Synonymous_A859A,Silent exm45461 1 36931973 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Synonymous_A832A,Synonymous_A859A,Silent exm45466 1 36932047 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_E808K,Missense_E835K,Silent exm45467 1 36932062 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_P803S,Missense_P830S,Silent exm1799683 1 36932272 [T/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_P733T,Missense_P760T,Missense_P733T exm45480 1 36932458 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Silent,Missense_R698C,Silent exm45481 1 36932463 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Silent,Missense_M696T,Silent exm45484 1 36932503 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Silent,Missense_G683R,Silent exm45489 1 36933198 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_T640I,Missense_T640I,Missense_T640I exm45494 1 36933431 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_L619S,Missense_L619S,Missense_L619S exm45495 1 36933473 [T/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_Q605P,Missense_Q605P,Missense_Q605P exm45500 1 36933539 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_R583H,Missense_R583H,Missense_R583H exm45504 1 36933715 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_Y562H,Missense_Y562H,Missense_Y562H exm45507 1 36933759 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Nonsense_W547X,Nonsense_W547X,Nonsense_W547X rs3917991 1 36934805 [C/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_D510H,Missense_D510H,Missense_D510H exm45512 1 36934805 [C/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_D510H,Missense_D510H,Missense_D510H exm45526 1 36935360 [T/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_P456H,Missense_P456H,Missense_P456H exm45529 1 36935408 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_R440Q,Missense_R440Q,Missense_R440Q rs3917981 1 36937059 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Synonymous_T420T,Synonymous_T420T,Synonymous_T420T exm45537 1 36937106 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_E405K,Missense_E405K,Missense_E405K exm45542 1 36937701 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_Q346R,Missense_Q346R,Missense_Q346R exm45547 1 36937878 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_D320N,Missense_D320N,Missense_D320N exm45556 1 36938257 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_M235T,Missense_M235T,Missense_M235T exm45559 1 36938269 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_M231T,Missense_M231T,Missense_M231T exm45569 1 36939403 [G/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_E149D,Missense_E149D,Missense_E149D exm45576 1 36940995 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_V115A,Missense_V115A,Missense_V115A rs3917950 1 36941751 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R Silent,Silent,Silent exm45598 1 36945037 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_G21R,Missense_G21R,Missense_G21R rs3917922 1 36945713 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R Silent,Silent,Silent rs6667450 1 36957831 [T/C] rs11263901 1 36960626 [A/G] rs11804163 1 36984734 [T/C] rs6425991 1 36988601 [A/G] rs7526895 1 37000090 [T/C] rs4503315 1 37000226 [T/G] rs10752589 1 37001923 [T/C] rs17498436 1 37003273 [T/C] rs12072868 1 37013031 [A/G] rs10796886 1 37014811 [T/C] rs12031548 1 37020422 [A/G] rs4026409 1 37033128 [T/C] rs7538665 1 37043894 [T/C] rs7526919 1 37056334 [A/C] rs4653204 1 37058354 [T/C] rs12063741 1 37070248 [A/G] rs4653210 1 37074351 [T/G] rs7533162 1 37084522 [A/G] rs1474850 1 37096184 [A/C] rs6702202 1 37096594 [A/G] rs12411078 1 37108638 [T/C] rs7355025 1 37115263 [A/G] rs219002 1 37126512 [A/G] rs218990 1 37136762 [T/G] rs1395457 1 37143732 [T/C] rs2983118 1 37163878 [A/G] rs12755038 1 37165467 [T/G] rs4652921 1 37174773 [A/G] rs12063010 1 37178411 [T/C] rs1002656 1 37192741 [T/C] rs16823426 1 37193645 [A/G] rs7549591 1 37198352 [T/C] rs11576073 1 37200680 [A/G] rs494022 1 37210112 [T/G] rs1472823 1 37220721 [A/G] exm2265001 1 37254301 [A/G] rs479779 1 37256063 [A/G] var_1_37270575 1 37270575 [I/D] NM_000831 GRIK3 exm45620 1 37271783 [T/C] NM_000831 GRIK3 EXON Missense_V746I rs476227 1 37285123 [A/C] NM_000831 GRIK3 Silent exm45636 1 37285454 [A/C] NM_000831 GRIK3 EXON Missense_F586V rs484017 1 37303737 [T/C] NM_000831 GRIK3 Silent exm45644 1 37307336 [T/C] NM_000831 GRIK3 Silent exm45662 1 37315970 [T/C] NM_000831 GRIK3 EXON Missense_R423Q exm45664 1 37316004 [T/C] NM_000831 GRIK3 EXON Missense_D412N exm45668 1 37319265 [A/G] NM_000831 GRIK3 EXON Missense_T388M exm45689 1 37325587 [T/C] NM_000831 GRIK3 EXON Missense_R273H exm45691 1 37325609 [T/C] NM_000831 GRIK3 EXON Missense_A266T rs574214 1 37335085 [A/C] NM_000831 GRIK3 Silent exm45708 1 37346259 [T/G] NM_000831 GRIK3 EXON Missense_T176P rs3767058 1 37352057 [A/G] NM_000831 GRIK3 Silent rs501713 1 37405960 [T/G] NM_000831 GRIK3 Silent rs16823687 1 37408081 [A/G] NM_000831 GRIK3 Silent rs475292 1 37410008 [T/C] NM_000831 GRIK3 Silent rs501832 1 37421958 [C/G] NM_000831 GRIK3 Silent rs6426003 1 37430266 [A/C] NM_000831 GRIK3 Silent rs3820274 1 37444665 [T/C] NM_000831 GRIK3 Silent rs9628638 1 37459950 [A/G] NM_000831 GRIK3 Silent rs12138633 1 37478063 [A/G] NM_000831 GRIK3 Silent rs6686296 1 37489380 [T/G] NM_000831 GRIK3 Silent exm45736 1 37499626 [T/G] NM_000831 GRIK3 EXON Missense_D28E rs2859741 1 37509352 [T/C] rs550273 1 37525639 [A/G] rs1334792 1 37530824 [A/G] rs6702349 1 37534255 [T/C] rs218396 1 37548473 [A/G] rs3765424 1 37561389 [T/G] rs849952 1 37561638 [A/G] rs3856135 1 37567439 [T/C] rs709303 1 37570787 [A/G] exm-rs849961 1 37577214 [A/G] exm2264822 1 37581516 [A/G] rs10908321 1 37581882 [A/G] rs215770 1 37585973 [A/C] rs215791 1 37606291 [T/C] rs12131641 1 37611513 [A/G] rs2884796 1 37617809 [T/C] rs4653252 1 37622070 [A/C] rs218388 1 37641047 [T/C] rs215811 1 37668630 [T/C] rs10908325 1 37700681 [A/G] rs12140004 1 37704048 [A/G] rs872157 1 37716037 [T/C] rs6691915 1 37716718 [A/G] rs2047706 1 37717219 [T/C] rs1542885 1 37725041 [T/C] rs624650 1 37749227 [A/G] rs301992 1 37752850 [T/C] rs10908337 1 37765920 [A/G] rs1888695 1 37769074 [T/C] rs11582151 1 37796608 [A/G] rs727670 1 37809549 [T/G] rs1004766 1 37824508 [A/G] rs1569661 1 37853334 [A/G] rs16824043 1 37855834 [A/G] rs2745487 1 37859876 [A/G] rs2745486 1 37861046 [A/G] rs876465 1 37864911 [T/C] rs875361 1 37865954 [A/G] rs2745481 1 37866343 [T/C] rs16824060 1 37867275 [A/G] rs10908348 1 37878610 [A/G] rs2811630 1 37882114 [A/G] rs4428850 1 37889172 [T/G] rs10908350 1 37902331 [A/G] rs10493078 1 37909488 [A/C] rs2484556 1 37913283 [T/C] rs2660569 1 37922859 [T/C] NR_038842 LINC01137 Silent rs6681785 1 37939094 [T/C] NR_038842 LINC01137 Silent rs2492301 1 37939173 [T/C] NR_038842 LINC01137 Silent exm45755 1 37941135 [C/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_A13G,Missense_A13G exm45757 1 37941192 [T/C] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_P32L,Missense_P32L exm45759 1 37941196 [T/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_R33S,Missense_R33S exm45776 1 37941396 [T/C] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_P100L,Missense_P100L exm45778 1 37941464 [T/C] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_P123S,Missense_P123S exm1800611 1 37941515 [A/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_I140V,Missense_I140V exm45789 1 37945920 [A/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_R158Q,Missense_R158Q exm45791 1 37945956 [A/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_R170Q,Missense_R170Q exm45796 1 37947235 [A/T] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_K206M,Missense_K206M exm45802 1 37947336 [A/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_V240M,Missense_V240M exm45818 1 37948140 [T/C] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Synonymous_Y34Y,Synonymous_Y308Y,Synonymous_Y308Y exm45827 1 37948449 [A/C] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Missense_P72H,Missense_P346H,Missense_P346H exm45852 1 37948886 [A/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Missense_G218S,Missense_G492S,Missense_G492S exm45866 1 37949180 [T/C] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Missense_L316F,Missense_L590F,Missense_L590F rs215206 1 37951754 [T/C] rs6700586 1 37957376 [A/G] NM_001270876,NM_022756,NR_073091,NR_073092,NR_073090,NM_001270875 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 EXON Silent,Silent,Silent,Silent,Silent,Silent exm-rs9253 1 37958813 [G/C] NM_001270876,NM_022756,NR_073091,NR_073092,NR_073090,NM_001270875 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 EXON Silent,Silent,Silent,Silent,Silent,Silent exm45881 1 37967549 [T/C] NM_001270876,NM_022756,NR_073091,NR_073092,NR_073090,NM_001270875 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 EXON Missense_N130S,Missense_N130S,Silent,Silent,Silent,Missense_N130S rs215214 1 37975279 [T/C] NM_001270876,NM_022756,NR_073091,NR_073092,NR_073090,NM_001270875 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 Silent,Silent,Silent,Silent,Silent,Silent rs7545493 1 37996750 [A/C] rs12119795 1 37999227 [T/C] exm45902 1 38003384 [T/C] NM_024700 SNIP1 EXON Missense_D386N exm45905 1 38003422 [A/G] NM_024700 SNIP1 EXON Missense_S373L newrs150740046 1 38005758 [A/C] NM_024700 SNIP1 EXON Missense_R309L exm45917 1 38006105 [A/C] NM_024700 SNIP1 EXON Missense_N193K exm1800715 1 38006116 [A/G] NM_024700 SNIP1 EXON Missense_R190C exm45921 1 38006163 [A/G] NM_024700 SNIP1 EXON Missense_A174V exm45925 1 38006254 [A/G] NM_024700 SNIP1 EXON Missense_R144W exm2233306 1 38006259 [T/C] NM_024700 SNIP1 EXON Missense_R142K exm45931 1 38006337 [T/C] NM_024700 SNIP1 EXON Missense_R116Q exm45932 1 38006338 [A/G] NM_024700 SNIP1 EXON Missense_R116W exm45934 1 38006352 [T/C] NM_024700 SNIP1 EXON Missense_R111H exm45935 1 38006353 [A/G] NM_024700 SNIP1 EXON Missense_R111C exm45954 1 38019800 [G/C] NM_024700 SNIP1 EXON Missense_G11R exm45968 1 38023316 [T/C] NM_003462 DNALI1 EXON Missense_A65V exm45970 1 38023338 [A/G] NM_003462 DNALI1 EXON Missense_I72M variant.2483 1 38023342 [A/C] NM_003462 DNALI1 EXON Missense_P74T variant.2484 1 38023351 [T/G] NM_003462 DNALI1 Silent exm45974 1 38024964 [T/G] NM_003462 DNALI1 EXON Missense_Q88H exm45986 1 38027235 [A/G] NM_003462 DNALI1 EXON Missense_M159V exm45992 1 38027286 [A/G] NM_003462 DNALI1 EXON Missense_M176V exm45993 1 38027317 [A/T] NM_003462 DNALI1 EXON Missense_K186M exm46000 1 38027698 [T/C] NM_003462 DNALI1 EXON Missense_T198M exm46001 1 38027737 [A/C] NM_003462 DNALI1 EXON Missense_K211T exm46007 1 38027796 [A/C] NM_003462 DNALI1 EXON Missense_K231Q exm46008 1 38027815 [A/G] NM_003462 DNALI1 EXON Missense_Q237R variant.2489 1 38027835 [T/C] NM_003462 DNALI1 EXON Nonsense_Q244X rs6619 1 38030696 [T/C] NM_003462 DNALI1 EXON Silent exm46027 1 38032580 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_P759L,Missense_P691L,Missense_P508L exm46031 1 38032607 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_R750Q,Missense_R682Q,Missense_R499Q exm46033 1 38033291 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_A744T,Missense_A676T,Missense_A493T exm46034 1 38033308 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_S738L,Missense_S670L,Missense_S487L exm46037 1 38033930 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_F701L,Missense_F633L,Missense_F450L variant.2491 1 38034447 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 Silent,Silent,Silent exm46053 1 38034737 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_R596Q,Missense_R528Q,Missense_R345Q variant.2492 1 38034738 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Nonsense_R596X,Nonsense_R528X,Nonsense_R345X exm46056 1 38034836 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_T563I,Missense_T495I,Missense_T312I rs10908355 1 38035286 [T/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 Silent,Silent,Silent exm2251558 1 38038388 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 Silent,Silent,Silent exm46062 1 38039997 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_R523W,Missense_R455W,Missense_R272W indel.2493 1 38040058 [I/D] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 exm46066 1 38040285 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_R496Q,Missense_R428Q,Missense_R245Q exm46068 1 38040333 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_I480T,Missense_I412T,Missense_I229T exm46070 1 38040392 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Synonymous_D460D,Synonymous_D392D,Synonymous_D209D exm2251559 1 38040392 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Synonymous_D460D,Synonymous_D392D,Synonymous_D209D newrs148032409 1 38041298 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Synonymous_V415V,Synonymous_V347V,Synonymous_V164V variant.2496 1 38042024 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 Silent,Silent,Silent exm46076 1 38042043 [A/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_A410S,Missense_A342S,Missense_A159S exm46086 1 38048473 [G/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_S234C,Missense_S234C,Missense_S51C exm46087 1 38048504 [T/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_L224I,Missense_L224I,Missense_L41I variant.2498 1 38049463 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 Silent,Silent,Silent exm46093 1 38049499 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_Q202R,Missense_Q202R,Missense_Q19R exm46094 1 38049504 [G/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_K200N,Missense_K200N,Missense_K17N rs7535432 1 38051585 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 Silent,Silent,Silent exm46099 1 38052928 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_E185K,Missense_E185K,Silent exm46112 1 38058381 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_P59L,Missense_P59L,Silent exm46116 1 38059364 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_R50G,Missense_R50G,Silent exm46123 1 38059416 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_M32I,Missense_M32I,Silent rs4652964 1 38078300 [A/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Silent,Silent,Silent,Silent exm46136 1 38078561 [A/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_R220W,Missense_R157W,Missense_R220W,Missense_R193W exm46147 1 38079393 [T/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_R203K,Silent,Missense_R203K,Missense_R176K exm1800826 1 38079537 [A/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_P155L,Silent,Missense_P155L,Missense_P128L exm46153 1 38079563 [T/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Synonymous_A146A,Silent,Synonymous_A146A,Synonymous_A119A exm46163 1 38082222 [T/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_V74I,Missense_V74I,Missense_V74I,Missense_V47I exm46165 1 38082327 [T/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_A39T,Missense_A39T,Missense_A39T,Missense_A12T rs12023270 1 38086578 [T/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 Silent,Silent,Silent,Silent rs4074961 1 38092723 [T/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 Silent,Silent,Silent,Silent exm46170 1 38095274 [A/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Synonymous_S20S,Synonymous_S20S,Synonymous_S20S,Silent rs4233215 1 38098036 [A/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 Silent,Silent,Silent,Silent rs7552071 1 38109752 [T/C] rs11264081 1 38117142 [T/C] rs11264082 1 38122012 [A/G] rs6687329 1 38127154 [A/G] rs10908367 1 38134606 [A/C] exm2265002 1 38135687 [A/G] exm46182 1 38148833 [A/C] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm46184 1 38149026 [T/C] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Synonymous_P244P,Missense_R180Q,Missense_R243Q,Missense_R243Q,Missense_R242Q,Missense_R180Q,Synonymous_P181P,Synonymous_P181P,Missense_R180Q,Synonymous_P181P,Missense_R180Q,Missense_R242Q,Synonymous_P243P,Missense_R180Q,Missense_R180Q,Missense_R242Q,Synonymous_P181P,Synonymous_P181P,Missense_R180Q,Missense_R180Q rs686083 1 38149193 [T/C] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm46188 1 38152078 [A/G] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Nonsense_R171X,Nonsense_R108X,Nonsense_R171X,Nonsense_R171X,Nonsense_R170X,Nonsense_R108X,Nonsense_R108X,Nonsense_R108X,Nonsense_R108X,Nonsense_R108X,Nonsense_R108X,Nonsense_R170X,Nonsense_R170X,Nonsense_R108X,Nonsense_R108X,Nonsense_R170X,Nonsense_R108X,Nonsense_R108X,Nonsense_R108X,Nonsense_R108X rs501252 1 38154170 [A/G] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm46198 1 38155366 [T/G] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Missense_L126I,Missense_L63I,Missense_L126I,Missense_L126I,Missense_L125I,Missense_L63I,Missense_L63I,Missense_L63I,Missense_L63I,Missense_L63I,Missense_L63I,Missense_L125I,Missense_L125I,Missense_L63I,Missense_L63I,Missense_L125I,Missense_L63I,Missense_L63I,Missense_L63I,Missense_L63I exm46200 1 38155456 [A/G] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Missense_R96W,Missense_R33W,Missense_R96W,Missense_R96W,Missense_R95W,Missense_R33W,Missense_R33W,Missense_R33W,Missense_R33W,Missense_R33W,Missense_R33W,Missense_R95W,Missense_R95W,Missense_R33W,Missense_R33W,Missense_R95W,Missense_R33W,Missense_R33W,Missense_R33W,Missense_R33W exm46202 1 38155488 [T/C] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Missense_E85G,Missense_E22G,Missense_E85G,Missense_E85G,Missense_E84G,Missense_E22G,Missense_E22G,Missense_E22G,Missense_E22G,Missense_E22G,Missense_E22G,Missense_E84G,Missense_E84G,Missense_E22G,Missense_E22G,Missense_E84G,Missense_E22G,Missense_E22G,Missense_E22G,Missense_E22G variant.2506 1 38155546 [A/G] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Nonsense_Q66X,Nonsense_Q3X,Nonsense_Q66X,Nonsense_Q66X,Nonsense_Q65X,Nonsense_Q3X,Nonsense_Q3X,Nonsense_Q3X,Nonsense_Q3X,Nonsense_Q3X,Nonsense_Q3X,Nonsense_Q65X,Nonsense_Q65X,Nonsense_Q3X,Nonsense_Q3X,Nonsense_Q65X,Nonsense_Q3X,Nonsense_Q3X,Nonsense_Q3X,Nonsense_Q3X rs3762352 1 38156902 [T/C] NM_001350757,NM_001350768,NM_001350762,NM_001350765,NM_001350759,NM_001350758,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs652109 1 38157717 [A/G] NM_001350757,NM_001350768,NM_001350762,NM_001350765,NM_001350759,NM_001350758,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm46212 1 38158648 [A/G] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_I56V,Missense_I56V rs11264087 1 38163387 [T/C] NM_001256875,NM_018101 CDCA8,CDCA8 Silent,Silent exm46216 1 38166111 [A/G] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_R114Q,Missense_R114Q exm2273637 1 38166170 [T/C] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_R134C,Missense_R134C exm46225 1 38168965 [T/G] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_L177W,Missense_L177W exm46234 1 38171207 [T/A] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_I227F,Missense_I227F exm46235 1 38171231 [A/G] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_G235S,Missense_G235S variant.2509 1 38171244 [A/G] NM_001256875,NM_018101 CDCA8,CDCA8 Silent,Silent exm46238 1 38172736 [T/C] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Synonymous_S266S,Synonymous_S266S rs557897 1 38174185 [T/G] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Silent,Silent exm46252 1 38184055 [T/C] NM_001099439 EPHA10 EXON Missense_V1006M exm46255 1 38184106 [T/C] NM_001099439 EPHA10 EXON Missense_S989G exm46256 1 38184115 [T/C] NM_001099439 EPHA10 EXON Missense_A986T exm1800866 1 38184120 [A/C] NM_001099439 EPHA10 EXON Missense_R984L exm46260 1 38184349 [A/C] NM_001099439 EPHA10 EXON Missense_A966S exm46263 1 38184382 [T/C] NM_001099439 EPHA10 EXON Missense_A955T exm46267 1 38184439 [T/C] NM_001099439 EPHA10 EXON Missense_G936S exm46279 1 38185116 [A/G] NM_001099439 EPHA10 EXON Missense_P909L exm2233313 1 38185159 [C/G] NM_001099439 EPHA10 EXON Missense_Q895E exm46285 1 38185212 [T/C] NM_001099439 EPHA10 EXON Missense_R877Q exm46291 1 38185629 [A/C] NM_001099439 EPHA10 EXON Missense_E838D exm46296 1 38185714 [A/G] NM_001099439 EPHA10 EXON Missense_A810V exm46298 1 38185723 [T/C] NM_001099439 EPHA10 EXON Missense_R807Q exm46315 1 38186189 [T/C] NM_001099439 EPHA10 EXON Missense_G749E rs6671088 1 38186189 [T/C] NM_001099439 EPHA10 EXON Missense_G749E exm46320 1 38186226 [A/G] NM_001099439 EPHA10 EXON Missense_R737W exm46322 1 38186487 [T/C] NM_001099439 EPHA10 EXON Missense_M726V exm46339 1 38188736 [A/G] NM_001099439 EPHA10 EXON Missense_T646M exm46341 1 38188740 [T/C] NM_001099439 EPHA10 EXON Missense_V645I exm2233316 1 38188748 [A/G] NM_001099439 EPHA10 EXON Missense_A642V exm46346 1 38188787 [A/G] NM_001099439 EPHA10 EXON Missense_L629P exm46347 1 38188820 [T/C] NM_001099439 EPHA10 EXON Missense_R618H exm46354 1 38189044 [T/C] NM_001099439 EPHA10 EXON Synonymous_R591R rs6686248 1 38192296 [A/G] NM_001099439 EPHA10 Silent exm1800901 1 38192814 [T/C] NM_001099439 EPHA10 EXON Missense_V578I exm46358 1 38192825 [A/G] NM_001099439 EPHA10 EXON Missense_S574L exm46359 1 38192838 [T/C] NM_001099439 EPHA10 EXON Missense_V570I rs731174 1 38196841 [T/C] NM_001099439 EPHA10 Silent exm46366 1 38197152 [T/C] NM_001099439 EPHA10 EXON Missense_A532T exm46368 1 38197170 [T/C] NM_001099439 EPHA10 EXON Missense_V526I exm2273638 1 38197176 [A/G] NM_001099439 EPHA10 EXON Missense_R524C exm46372 1 38197214 [A/G] NM_001099439 EPHA10 EXON Missense_A511V exm46376 1 38197247 [T/C] NM_001099439 EPHA10 EXON Missense_S500N rs7549842 1 38199542 [T/C] NM_001099439 EPHA10 Silent rs659573 1 38199716 [T/C] NM_001099439 EPHA10 Silent rs631432 1 38201371 [T/C] NM_001099439 EPHA10 Silent rs663428 1 38206797 [A/G] NM_001099439 EPHA10 Silent rs483201 1 38207825 [T/G] NM_001099439 EPHA10 Silent rs508992 1 38222805 [T/G] NM_001099439 EPHA10 Silent exm46395 1 38227086 [A/T] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_F281I,Missense_F281I exm46400 1 38227136 [A/C] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_V264G,Missense_V264G exm46408 1 38227323 [T/C] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_V202I,Missense_V202I exm46421 1 38227500 [A/G] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_R143C,Missense_R143C exm46426 1 38227620 [C/G] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_V103L,Missense_V103L exm46431 1 38227722 [A/G] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_R69C,Missense_R69C exm46437 1 38230699 [C/G] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_L14V,Missense_L14V rs10157024 1 38231069 [T/C] rs489408 1 38243785 [A/G] exm-rs12117544 1 38247153 [A/T] rs4308943 1 38247738 [A/G] rs2306627 1 38260503 [T/C] NM_001031740,NM_001113482 MANEAL,MANEAL Silent,Silent exm46452 1 38262417 [T/G] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Missense_V221G,Missense_V221G,Silent exm46458 1 38262492 [T/C] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Missense_T246I,Missense_T246M,Silent exm1800928 1 38265258 [T/C] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_F253L,Missense_F31L exm46465 1 38265363 [A/G] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_G288R,Missense_G66R exm46476 1 38265622 [A/G] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_N374S,Missense_N152S exm46479 1 38265670 [T/C] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_A390V,Missense_A168V exm46481 1 38265709 [T/C] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_S403F,Missense_S181F exm46492 1 38265849 [A/G] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_K450E,Missense_K228E variant.2539 1 38269969 [T/C] NM_024640 YRDC Silent exm46499 1 38270002 [T/C] NM_024640 YRDC EXON Missense_G247R exm46501 1 38270005 [A/G] NM_024640 YRDC EXON Missense_P246S rs34419319 1 38272648 [A/G] NM_024640 YRDC EXON Missense_L169F exm2233321 1 38272820 [T/C] NM_024640 YRDC EXON Missense_M153V exm46539 1 38274696 [G/C] NM_001142726,NM_198446 C1orf122,C1orf122 EXON Missense_A32G,Missense_A95G exm46542 1 38274713 [A/G] NM_001142726,NM_198446 C1orf122,C1orf122 EXON Missense_K38E,Missense_K101E exm46543 1 38274722 [A/G] NM_001142726,NM_198446 C1orf122,C1orf122 EXON Missense_G41S,Missense_G104S rs473279 1 38275802 [T/C] NM_005955 MTF1 EXON Silent rs3748682 1 38279987 [T/C] NM_005955 MTF1 EXON Silent exm46553 1 38280866 [A/G] NM_005955 MTF1 EXON Missense_I735T indel.2541 1 38280946 [I/D] NM_005955 MTF1 EXON exm46556 1 38280953 [T/C] NM_005955 MTF1 EXON Missense_D706G variant.2542 1 38280972 [A/G] NM_005955 MTF1 EXON Nonsense_Q700X exm46562 1 38281046 [A/G] NM_005955 MTF1 EXON Missense_A675V exm46567 1 38287837 [T/C] NM_005955 MTF1 EXON Missense_I575V exm46583 1 38288227 [A/G] NM_005955 MTF1 EXON Missense_P445S exm46586 1 38288242 [A/G] NM_005955 MTF1 EXON Missense_P440S rs12751325 1 38289383 [T/C] NM_005955 MTF1 EXON Synonymous_T390T exm46591 1 38289383 [T/C] NM_005955 MTF1 EXON Synonymous_T390T exm46593 1 38289400 [T/C] NM_005955 MTF1 EXON Missense_E385K exm46597 1 38289462 [A/G] NM_005955 MTF1 EXON Missense_T364I variant.2543 1 38305836 [A/C] NM_005955 MTF1 Silent rs12745294 1 38309322 [T/C] NM_005955 MTF1 Silent exm46626 1 38323142 [T/G] NM_005955 MTF1 EXON Missense_D63E variant.2544 1 38328076 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Nonsense_R665X,Nonsense_R885X,Nonsense_R665X,Nonsense_R721X exm46640 1 38329999 [C/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_D651H,Missense_D871H,Missense_D651H,Missense_D707H rs3828152 1 38330396 [A/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent var_1_38334168 1 38334168 [A/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent var_1_38334190 1 38334190 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Nonsense_R542X,Nonsense_R762X,Nonsense_R542X,Nonsense_R598X variant.2549 1 38338600 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent exm46658 1 38338795 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_M445T,Missense_M665T,Missense_M445T,Missense_M501T rs12742756 1 38347417 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent exm46684 1 38348517 [T/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_E245K,Missense_E465K,Missense_E245K,Missense_E301K exm46689 1 38351367 [A/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_R201L,Missense_R421L,Missense_R201L,Missense_R257L exm46695 1 38352664 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Nonsense_R123X,Nonsense_R343X,Nonsense_R123X,Nonsense_R179X exm46702 1 38354008 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_A49V,Missense_A269V,Missense_A49V,Missense_A105V exm46708 1 38355335 [A/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_D11Y,Missense_D231Y,Missense_D11Y,Missense_D67Y exm1801019 1 38357078 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Silent,Missense_M194T,Silent,Missense_M30T exm46712 1 38357085 [T/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Silent,Missense_V192M,Silent,Missense_V28M rs12733578 1 38380285 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent rs12739026 1 38401933 [A/C] NM_001350228,NM_005540 INPP5B,INPP5B Silent,Silent rs28600729 1 38406626 [A/G] NM_001350228,NM_005540 INPP5B,INPP5B Silent,Silent exm46735 1 38409317 [T/A] NM_005540 INPP5B EXON Missense_I92N exm46737 1 38409489 [A/G] NM_005540 INPP5B EXON Missense_R77W exm46742 1 38409550 [T/C] NM_005540 INPP5B EXON Synonymous_T56T exm2251567 1 38409550 [T/C] NM_005540 INPP5B EXON Synonymous_T56T exm46746 1 38411444 [T/C] NM_005540 INPP5B EXON Missense_G46S exm46802 1 38450438 [A/G] NM_001320830,NM_006802 SF3A3,SF3A3 EXON Missense_M53T,Missense_M106T rs12044531 1 38453041 [A/G] NM_001320830,NM_006802 SF3A3,SF3A3 Silent,Silent exm46807 1 38453330 [T/C] NM_001320830,NM_006802 SF3A3,SF3A3 EXON Silent,Missense_N73S rs4072980 1 38456106 [A/G] exm46822 1 38463148 [C/G] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_L150V,Missense_L258V exm46824 1 38463226 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_G124S,Missense_G232S exm46826 1 38463367 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_R118H,Missense_R226H exm46829 1 38463476 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_G82R,Missense_G190R exm46830 1 38463477 [A/G] NM_001243878,NM_004468 FHL3,FHL3 EXON Synonymous_T81T,Synonymous_T189T rs7366048 1 38463504 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Synonymous_P72P,Synonymous_P180P exm46833 1 38463514 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_R69H,Missense_R177H exm46837 1 38463541 [A/G] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_T60M,Missense_T168M exm1801095 1 38463740 [A/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_C24W,Missense_C132W exm46850 1 38464670 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Silent,Missense_A103T exm46853 1 38464678 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Silent,Missense_Q100R exm46854 1 38464690 [A/G] NM_001243878,NM_004468 FHL3,FHL3 EXON Silent,Missense_A96V exm46858 1 38464778 [A/G] NM_001243878,NM_004468 FHL3,FHL3 EXON Silent,Missense_R67C rs6600436 1 38469500 [T/C] NM_001243878,NM_004468 FHL3,FHL3 Silent,Silent exm46871 1 38478503 [A/C] NM_016037 UTP11 EXON Missense_K10T exm46873 1 38482080 [A/G] NM_016037 UTP11 EXON Missense_K38R exm46876 1 38483428 [T/C] NM_016037 UTP11 EXON Missense_R72W variant.2558 1 38484254 [T/G] NM_016037 UTP11 Silent indel.2559 1 38484752 [I/D] NM_016037 UTP11 EXON exm46883 1 38484795 [A/G] NM_016037 UTP11 EXON Missense_H136R exm46886 1 38484981 [A/G] NM_016037 UTP11 EXON Missense_V165I variant.2560 1 38485041 [T/C] NM_016037 UTP11 EXON Nonsense_Q185X exm46889 1 38488372 [A/G] NM_016037 UTP11 EXON Missense_R190Q variant.2561 1 38488425 [T/C] NM_016037 UTP11 EXON Nonsense_R208X exm46900 1 38489251 [T/C] NM_016037 UTP11 EXON Missense_T238M exm46901 1 38489269 [T/C] NM_016037 UTP11 EXON Missense_I244T var_1_38489289 1 38489289 [T/C] NM_016037 UTP11 EXON Nonsense_R251X rs12408171 1 38491265 [T/C] rs569791 1 38507495 [A/G] rs11205858 1 38529500 [A/G] rs12733163 1 38533001 [A/G] rs12074522 1 38541428 [A/G] rs2615811 1 38570853 [A/G] rs6662282 1 38595864 [A/G] rs7547921 1 38602073 [A/C] rs4593783 1 38609325 [A/G] rs883220 1 38616871 [A/C] rs12083795 1 38623285 [T/G] exm-rs12131057 1 38624129 [A/G] rs6656185 1 38640565 [T/C] rs898982 1 38645708 [A/G] rs10889449 1 38651608 [A/G] rs11208403 1 38656716 [A/G] rs748229 1 38657551 [T/C] rs1993804 1 38660593 [T/C] rs1841796 1 38664433 [A/G] rs6659413 1 38671406 [T/C] rs745526 1 38675803 [T/C] NR_038928 LINC01343 EXON Silent rs6675079 1 38686908 [A/C] rs16824807 1 38695702 [A/G] rs6702480 1 38715252 [T/C] rs11802770 1 38721663 [T/C] rs2480697 1 38733788 [T/G] exm2251575 1 38734768 [A/G] rs12075194 1 38738105 [A/C] rs1543632 1 38747960 [T/C] rs12565767 1 38750042 [T/G] rs6600376 1 38750228 [A/C] rs1329967 1 38752476 [A/G] rs1778040 1 38769077 [A/C] rs12748758 1 38769144 [T/C] rs1778037 1 38774882 [T/G] rs1778041 1 38790638 [A/G] rs2637846 1 38799191 [T/C] rs10890173 1 38799283 [A/G] rs12073718 1 38801278 [T/C] rs11210569 1 38805929 [T/C] rs2637876 1 38814355 [A/C] rs2040073 1 38829224 [T/C] rs12726098 1 38835477 [T/C] rs4278342 1 38843016 [A/G] rs4266846 1 38850339 [A/C] rs12061862 1 38858428 [A/G] rs12740005 1 38858540 [A/G] rs6690257 1 38865601 [A/G] exm2260265 1 38875991 [T/C] rs12132779 1 38876635 [A/G] rs10890223 1 38890659 [T/C] rs7530233 1 38900643 [A/G] rs4970591 1 38900680 [T/C] rs2256357 1 38908461 [T/C] rs882000 1 38917810 [T/G] rs2252153 1 38919423 [A/G] rs2251803 1 38922053 [A/G] rs2494441 1 38929864 [A/G] rs2247973 1 38931261 [T/C] rs12564999 1 38932405 [T/C] rs2992434 1 38954125 [T/C] rs2184611 1 38984339 [T/C] rs4469689 1 39033922 [A/G] rs11210993 1 39042285 [T/C] rs2985755 1 39054557 [A/G] rs2985774 1 39071272 [A/G] rs12037910 1 39087604 [A/G] rs7548027 1 39092056 [A/C] rs4970609 1 39092449 [A/G] rs4970612 1 39125390 [T/C] rs6687438 1 39129295 [T/C] rs6687034 1 39134880 [T/C] rs4970614 1 39135748 [T/C] rs4970619 1 39160381 [A/G] rs10789469 1 39166802 [T/C] rs6680382 1 39192498 [A/G] rs4595336 1 39196638 [T/C] rs679143 1 39204184 [A/G] rs2182146 1 39211558 [T/C] rs942759 1 39214152 [A/G] exm2263821 1 39221925 [A/C] rs4147130 1 39225303 [A/G] rs12046969 1 39242855 [A/G] rs12729493 1 39247489 [T/C] rs1925421 1 39250964 [A/G] rs10789490 1 39255293 [A/G] rs6675193 1 39258674 [T/C] rs12026925 1 39266840 [A/G] rs9439072 1 39278828 [A/G] rs6690335 1 39291708 [A/G] rs9438970 1 39295972 [T/C] rs9694 1 39304728 [A/G] NM_001271851,NM_022157 RRAGC,RRAGC EXON Silent,Silent exm46939 1 39305305 [G/C] NM_001271851,NM_022157 RRAGC,RRAGC EXON Missense_H340D,Missense_H374D indel.2566 1 39305316 [D/I] NM_001271851,NM_022157 RRAGC,RRAGC EXON exm46948 1 39317396 [T/C] NM_001271851,NM_022157 RRAGC,RRAGC EXON Missense_V230I,Missense_V264I indel.2567 1 39330363 [I/D] NR_037637,NR_037634,NR_037636,NR_037633,NR_037632,NM_012333,NR_037635 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,MYCBP,MYCBP,GJA9-MYCBP EXON exm46969 1 39332586 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037632,NM_012333,NR_037635 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,MYCBP,MYCBP,GJA9-MYCBP EXON Silent,Silent,Silent,Silent,Silent,Missense_A78V,Silent exm46983 1 39340282 [T/C] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V497I exm46984 1 39340381 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S464P exm46986 1 39340419 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T451I exm46987 1 39340423 [T/C] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G450S indel.2568 1 39340503 [I/D] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON exm46993 1 39340507 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_L422F exm46994 1 39340558 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P405S variant.2569 1 39340560 [T/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_S404X exm47002 1 39340761 [T/C] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S337N exm47005 1 39340812 [G/C] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_C320S exm47008 1 39340839 [T/C] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_D311G exm47016 1 39341193 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P193L variant.2572 1 39341248 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_Q175X indel.2573 1 39341490 [I/D] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON exm47038 1 39341749 [T/C] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G8R rs4970633 1 39350742 [T/C] rs4491033 1 39352083 [T/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Silent,Silent exm47042 1 39352271 [T/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_L273M,Missense_L353M exm47048 1 39353636 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_P244L,Missense_P324L rs4414011 1 39354517 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent exm47054 1 39361681 [A/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_V190G,Missense_V270G rs4246511 1 39380385 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent rs6675870 1 39381576 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent exm47064 1 39384638 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent exm47068 1 39384709 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_R59Q,Missense_R139Q exm47071 1 39384766 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_A40V,Missense_A120V exm47075 1 39384826 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_M20T,Missense_M100T exm47078 1 39384860 [A/T] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_M9L,Missense_M89L rs9438994 1 39388838 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent rs16825658 1 39395883 [A/G] NM_017821 RHBDL2 Silent rs6656771 1 39396070 [A/G] NM_017821 RHBDL2 Silent rs12042694 1 39396424 [T/C] NM_017821 RHBDL2 Silent rs10749676 1 39398869 [A/C] NM_017821 RHBDL2 Silent rs4512638 1 39424634 [T/C] rs7548458 1 39430262 [T/C] rs6665494 1 39431045 [T/C] rs6696013 1 39451857 [A/C] rs4660652 1 39457859 [A/G] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 Silent,Silent rs7553434 1 39458110 [A/G] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 Silent,Silent exm47090 1 39463950 [T/C] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 EXON Missense_H110Y,Missense_H110Y exm47094 1 39466734 [T/A] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 EXON Missense_K151I,Silent rs10888621 1 39472585 [A/G] variant.2578 1 39494490 [T/C] NM_004552,NM_001184979 NDUFS5,NDUFS5 EXON Nonsense_R32X,Nonsense_R32X exm47115 1 39494611 [T/C] NM_004552,NM_001184979 NDUFS5,NDUFS5 EXON Missense_T72M,Missense_T72M variant.2579 1 39500133 [T/C] NM_004552,NM_001184979 NDUFS5,NDUFS5 EXON Missense_P96S,Missense_P96S rs12063115 1 39503018 [T/C] rs10888650 1 39507161 [A/G] rs10465799 1 39518006 [A/G] rs9786967 1 39528071 [A/G] rs9659165 1 39545269 [T/C] rs260974 1 39548798 [T/G] rs2282232 1 39568765 [T/C] NM_012090 MACF1 Silent rs11580989 1 39583686 [T/C] NM_012090 MACF1 Silent rs11205665 1 39590824 [T/C] NM_012090 MACF1 Silent rs560372 1 39644067 [A/G] NM_012090 MACF1 Silent rs1537818 1 39647038 [A/G] NM_012090 MACF1 Silent rs7538300 1 39652764 [A/C] NM_012090 MACF1 Silent rs16837533 1 39703847 [A/G] NM_012090 MACF1 Silent exm47137 1 39715702 [A/G] NM_012090 MACF1 EXON Missense_N100S rs4660214 1 39731550 [T/C] NM_012090 MACF1 Silent rs2252410 1 39744607 [T/G] NM_012090 MACF1 Silent variant.2582 1 39748046 [A/G] NM_012090 MACF1 EXON Missense_R237Q rs2275188 1 39748921 [A/G] NM_012090 MACF1 EXON Synonymous_Q257Q exm1801712 1 39751423 [A/G] NM_012090 MACF1 EXON Missense_A506T exm47173 1 39757595 [A/G] NM_012090 MACF1 EXON Missense_R605Q exm47181 1 39758439 [T/G] NM_012090 MACF1 EXON Missense_G644V rs2484749 1 39758955 [A/G] NM_012090 MACF1 Silent exm47195 1 39763365 [T/G] NM_012090 MACF1 EXON Missense_C815F newrs74718295 1 39775245 [T/C] NM_012090 MACF1 EXON Synonymous_V936V exm47214 1 39775303 [A/G] NM_012090 MACF1 EXON Missense_S956G exm1801747 1 39776557 [A/G] NM_012090 MACF1 EXON Missense_R1057Q exm47238 1 39781258 [T/A] NM_012090 MACF1 EXON Missense_H1120L exm47241 1 39781321 [A/G] NM_012090 MACF1 EXON Missense_K1141R exm1801750 1 39781350 [A/G] NM_012090 MACF1 EXON Missense_V1151I exm47244 1 39782063 [A/G] NM_012090 MACF1 EXON Synonymous_K1155K exm47252 1 39783013 [T/G] NM_012090 MACF1 EXON Missense_R1244L exm47253 1 39783025 [A/T] NM_012090 MACF1 EXON Missense_K1248I variant.2585 1 39783084 [A/G] NM_012090 MACF1 Silent exm2233329 1 39784125 [T/C] NM_012090 MACF1 EXON Synonymous_R1266R exm47264 1 39785384 [G/C] NM_012090 MACF1 EXON Missense_Q1337E newrs146105375 1 39785424 [A/C] NM_012090 MACF1 Silent rs3116389 1 39785641 [A/G] NM_012090 MACF1 Silent exm47268 1 39788295 [A/C] NM_012090 MACF1 EXON Missense_L1354M exm47276 1 39788664 [A/G] NM_012090 MACF1 EXON Missense_R1412H exm47277 1 39789890 [T/A] NM_012090 MACF1 EXON Missense_E1426V exm47281 1 39790337 [T/C] NM_012090 MACF1 EXON Missense_T1475I exm1801771 1 39792931 [A/G] NM_012090 MACF1 EXON Missense_N1512S exm47295 1 39797055 [A/G] NM_012090 MACF1 Silent exm47299 1 39797106 [A/C] NM_012090 MACF1 Silent exm47306 1 39797244 [A/C] NM_012090 MACF1 Silent indel.2587 1 39797336 [I/D] NM_012090 MACF1 variant.2588 1 39797421 [T/C] NM_012090 MACF1 Silent exm47315 1 39797460 [T/G] NM_012090 MACF1 Silent exm1801773 1 39797491 [A/G] NM_012090 MACF1 Silent exm47320 1 39797544 [A/G] NM_012090 MACF1 Silent exm1801774 1 39797583 [A/G] NM_012090 MACF1 Silent indel.2589 1 39797747 [I/D] NM_012090 MACF1 exm47329 1 39797749 [A/G] NM_012090 MACF1 Silent exm47341 1 39798016 [T/C] NM_012090 MACF1 Silent exm1801776 1 39798037 [T/G] NM_012090 MACF1 Silent exm2251605 1 39798101 [A/G] NM_012090 MACF1 Silent exm47345 1 39798120 [A/G] NM_012090 MACF1 Silent 1KG_1_39798401 1 39798401 [I/D] NM_012090 MACF1 exm47354 1 39798433 [T/C] NM_012090 MACF1 Silent exm47358 1 39798519 [C/G] NM_012090 MACF1 Silent exm47359 1 39798525 [A/C] NM_012090 MACF1 Silent 1KG_1_39798630 1 39798630 [I/D] NM_012090 MACF1 exm47363 1 39798682 [T/G] NM_012090 MACF1 Silent exm47366 1 39798745 [G/C] NM_012090 MACF1 Silent rs16826075 1 39798767 [A/G] NM_012090 MACF1 Silent exm47373 1 39798831 [T/C] NM_012090 MACF1 Silent exm47374 1 39798843 [T/C] NM_012090 MACF1 Silent exm47376 1 39798946 [T/C] NM_012090 MACF1 Silent exm47379 1 39798978 [T/C] NM_012090 MACF1 Silent exm47386 1 39799041 [A/G] NM_012090 MACF1 Silent exm47389 1 39799186 [A/G] NM_012090 MACF1 Silent exm2273639 1 39799263 [T/C] NM_012090 MACF1 Silent exm47392 1 39799293 [A/G] NM_012090 MACF1 Silent variant.2591 1 39799506 [T/C] NM_012090 MACF1 Silent exm47406 1 39799629 [A/G] NM_012090 MACF1 Silent exm47409 1 39799687 [G/C] NM_012090 MACF1 Silent exm47418 1 39799891 [T/A] NM_012090 MACF1 Silent exm47419 1 39799912 [T/C] NM_012090 MACF1 Silent exm47434 1 39800299 [T/C] NM_012090 MACF1 Silent indel.2592 1 39800499 [D/I] NM_012090 MACF1 exm47442 1 39800541 [A/G] NM_012090 MACF1 Silent exm47443 1 39800558 [A/C] NM_012090 MACF1 Silent exm47447 1 39800639 [A/G] NM_012090 MACF1 Silent exm47449 1 39800699 [T/A] NM_012090 MACF1 Silent exm47450 1 39800728 [A/G] NM_012090 MACF1 Silent exm47455 1 39801081 [A/G] NM_012090 MACF1 Silent exm2233334 1 39801085 [T/C] NM_012090 MACF1 Silent exm47460 1 39801435 [T/G] NM_012090 MACF1 Silent exm47461 1 39801469 [A/G] NM_012090 MACF1 Silent exm47463 1 39801540 [A/G] NM_012090 MACF1 Silent exm47465 1 39801570 [A/T] NM_012090 MACF1 Silent indel.2594 1 39801617 [I/D] NM_012090 MACF1 exm47467 1 39801681 [A/G] NM_012090 MACF1 Silent exm47472 1 39801771 [A/C] NM_012090 MACF1 Silent exm47473 1 39801787 [T/G] NM_012090 MACF1 Silent exm47477 1 39801815 [A/C] NM_012090 MACF1 Silent exm47490 1 39802168 [A/C] NM_012090 MACF1 Silent exm47493 1 39802283 [C/G] NM_012090 MACF1 Silent variant.2595 1 39806186 [T/G] NM_012090 MACF1 Silent exm47507 1 39806566 [A/G] NM_012090 MACF1 Silent indel.2597 1 39806578 [I/D] NM_012090 MACF1 exm2233336 1 39816512 [T/A] NM_012090 MACF1 EXON Missense_D1612V exm47529 1 39816547 [G/C] NM_012090 MACF1 EXON Missense_L1624V exm47531 1 39816571 [T/C] NM_012090 MACF1 EXON Missense_L1632F exm47533 1 39816610 [T/G] NM_012090 MACF1 EXON Missense_A1645S exm47535 1 39816626 [T/C] NM_012090 MACF1 EXON Missense_T1650I exm47538 1 39818739 [A/G] NM_012090 MACF1 EXON Missense_V1692I exm47543 1 39818884 [A/G] NM_012090 MACF1 EXON Missense_K1740R exm47552 1 39823135 [A/G] NM_012090 MACF1 EXON Missense_N1776S exm47554 1 39823159 [T/C] NM_012090 MACF1 EXON Missense_M1784T exm47565 1 39823363 [T/C] NM_012090 MACF1 EXON Missense_P1852L exm47567 1 39823377 [T/C] NM_012090 MACF1 EXON Missense_R1857W exm47578 1 39824468 [A/G] NM_012090 MACF1 EXON Missense_A1953T newrs148300193 1 39824545 [A/G] NM_012090 MACF1 EXON Synonymous_K1978K exm47586 1 39824930 [A/G] NM_012090 MACF1 EXON Missense_T2018A exm2233337 1 39826513 [A/G] NM_012090 MACF1 EXON Missense_R2036Q exm47592 1 39826587 [A/G] NM_012090 MACF1 EXON Missense_I2061V exm2273640 1 39827080 [T/C] NM_012090 MACF1 EXON Missense_R2106C exm2233338 1 39833826 [T/A] NM_012090 MACF1 EXON Missense_N2198Y variant.2599 1 39833986 [A/G] NM_012090 MACF1 EXON Missense_R2251K exm47614 1 39835817 [A/G] NM_012090 MACF1 EXON Missense_M2290V exm47615 1 39835830 [A/T] NM_012090 MACF1 EXON Missense_E2294V exm47616 1 39835843 [T/G] NM_012090 MACF1 EXON Missense_Q2298H exm47619 1 39838200 [A/G] NM_012090 MACF1 EXON Missense_N2320S exm47622 1 39838268 [C/G] NM_012090 MACF1 EXON Missense_G2343R exm47623 1 39844154 [A/G] NM_012090 MACF1 EXON Missense_G2350E exm47628 1 39844949 [T/C] NM_012090 MACF1 EXON Missense_R2389C exm47632 1 39847651 [T/G] NM_012090 MACF1 EXON Missense_V2497F exm47635 1 39847730 [A/G] NM_012090 MACF1 EXON Missense_R2523Q exm47643 1 39851239 [A/G] NM_012090 MACF1 EXON Missense_N2599S exm47653 1 39851427 [A/G] NM_012090 MACF1 EXON Missense_E2662K exm47661 1 39852860 [T/C] NM_012090 MACF1 EXON Synonymous_A2720A exm47662 1 39852883 [T/C] NM_012090 MACF1 EXON Missense_A2728V exm47664 1 39852984 [A/G] NM_012090 MACF1 EXON Missense_A2762T exm47665 1 39852985 [T/C] NM_012090 MACF1 EXON Missense_A2762V exm47686 1 39853640 [A/C] NM_012090 MACF1 EXON Missense_Q2980H exm47687 1 39853641 [T/G] NM_012090 MACF1 EXON Missense_A2981S exm47689 1 39853687 [A/T] NM_012090 MACF1 EXON Missense_V2996E exm1801884 1 39853740 [G/C] NM_012090 MACF1 EXON Missense_L3014V exm47691 1 39853800 [A/G] NM_012090 MACF1 EXON Missense_A3034T exm47699 1 39853959 [A/G] NM_012090 MACF1 EXON Missense_G3087S exm47701 1 39854002 [A/G] NM_012090 MACF1 EXON Missense_R3101Q exm47703 1 39854156 [C/G] NM_012090 MACF1 EXON Missense_E3152D exm47711 1 39854308 [A/G] NM_012090 MACF1 EXON Missense_N3203S rs616630 1 39871926 [A/G] NM_012090 MACF1 Silent exm47715 1 39876086 [A/T] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_Q50L exm47717 1 39876172 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_A79T exm47723 1 39876296 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_P120L exm47729 1 39876421 [T/A] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_N162Y exm47733 1 39876573 [A/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_L212F exm47739 1 39876686 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_Q250R exm47750 1 39876934 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_E333K exm47766 1 39877462 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_H509Y exm47769 1 39877514 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_V526A exm47781 1 39877829 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_L631S exm47790 1 39878015 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_Q693R exm47792 1 39878081 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_C715Y exm47793 1 39878089 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_D718N variant.2604 1 39878131 [T/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Nonsense_E732X exm47797 1 39878195 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_R753K exm47800 1 39878311 [T/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_S792A exm47804 1 39878413 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_E826K exm47805 1 39878414 [A/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_E826A exm47806 1 39878425 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_V830I exm47808 1 39878443 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_R836W exm47809 1 39878485 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_A850T exm47811 1 39878567 [G/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_P877R exm47812 1 39878599 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_I888V exm47814 1 39878741 [G/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_A935G exm47817 1 39878785 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_G950R exm47821 1 39878815 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_I960V exm47852 1 39879517 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_E1194K exm47875 1 39879900 [C/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_I1321M exm47876 1 39879905 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_A1323V exm47882 1 39880013 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_L1359P exm47883 1 39880019 [A/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_E1361A variant.2606 1 39880215 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Nonsense_W1426X variant.2607 1 39888184 [T/C] NM_012090 MACF1 EXON Nonsense_R3257X exm47888 1 39888185 [A/G] NM_012090 MACF1 EXON Missense_R3257Q variant.2608 1 39888577 [A/G] NM_012090 MACF1 Silent exm47901 1 39889792 [T/G] NM_012090 MACF1 EXON Missense_D3352E exm47902 1 39889812 [A/T] NM_012090 MACF1 EXON Missense_Q3359L exm47904 1 39889856 [T/G] NM_012090 MACF1 EXON Missense_A3374S exm47907 1 39893177 [T/C] NM_012090 MACF1 EXON Missense_T3394I exm47910 1 39893281 [T/C] NM_012090 MACF1 EXON Missense_H3429Y exm47914 1 39893676 [A/G] NM_012090 MACF1 EXON Missense_Q3445R exm47915 1 39893706 [C/G] NM_012090 MACF1 EXON Missense_S3455C exm47921 1 39893909 [A/G] NM_012090 MACF1 EXON Missense_V3523I exm47928 1 39895535 [A/G] NM_012090 MACF1 EXON Missense_G3580D exm47932 1 39895727 [A/T] NM_012090 MACF1 EXON Missense_Q3644L rs599823 1 39897271 [T/C] NM_012090 MACF1 Silent exm47940 1 39898283 [A/G] NM_012090 MACF1 EXON Missense_R3743H exm47948 1 39900230 [T/C] NM_012090 MACF1 EXON Missense_R3842W exm47957 1 39903464 [A/G] NM_012090 MACF1 EXON Missense_E3943K rs10489935 1 39906659 [A/G] NM_012090 MACF1 Silent exm2233347 1 39907673 [T/C] NM_012090 MACF1 EXON Missense_P4182L exm47994 1 39908506 [A/G] NM_012090 MACF1 EXON Missense_A4350T exm2251610 1 39908580 [A/G] NM_012090 MACF1 EXON Synonymous_Q4374Q exm48000 1 39909159 [A/G] NM_012090 MACF1 EXON Synonymous_E4389E exm2251611 1 39909159 [A/G] NM_012090 MACF1 EXON Synonymous_E4389E exm48003 1 39909220 [T/G] NM_012090 MACF1 EXON Missense_A4410S exm48005 1 39910413 [A/G] NM_012090 MACF1 EXON Missense_R4445H exm48008 1 39910477 [T/G] NM_012090 MACF1 EXON Missense_H4466Q exm48025 1 39914363 [C/G] NM_012090 MACF1 EXON Missense_S4670T exm48035 1 39917864 [A/G] NM_012090 MACF1 EXON Missense_V4760I exm2251612 1 39917872 [T/C] NM_012090 MACF1 EXON Synonymous_V4762V exm2264825 1 39919234 [A/G] NM_012090 MACF1 Silent rs687848 1 39919234 [A/G] NM_012090 MACF1 Silent exm48054 1 39919502 [A/G] NM_012090 MACF1 EXON Missense_I4897V exm48058 1 39920726 [T/C] NM_012090 MACF1 EXON Missense_P4952L exm48060 1 39920758 [A/G] NM_012090 MACF1 EXON Missense_A4963T exm48066 1 39924156 [A/G] NM_012090 MACF1 EXON Missense_G5005R newrs145079541 1 39924162 [A/G] NM_012090 MACF1 EXON Missense_R5007G exm48072 1 39924770 [A/G] NM_012090 MACF1 EXON Missense_S5011N newrs151293171 1 39924926 [T/C] NM_012090 MACF1 Silent rs7554206 1 39929240 [T/C] NM_012090 MACF1 Silent exm48096 1 39934315 [T/G] NM_012090 MACF1 EXON Missense_V5202G rs2275767 1 39945297 [T/C] NM_012090 MACF1 Silent exm48105 1 39945581 [A/G] NM_012090 MACF1 EXON Missense_R5269Q exm48106 1 39945661 [A/C] NM_012090 MACF1 EXON Missense_T5296P exm2251614 1 39950377 [T/C] NM_012090 MACF1 EXON Synonymous_S5337S exm48120 1 39951243 [A/G] NM_012090 MACF1 EXON Missense_R5357Q exm48128 1 39951304 [T/G] NM_012090 MACF1 EXON Missense_F5377L rs710915 1 39952745 [A/G] NM_012090 MACF1 EXON Silent exm2268879 1 39952822 [T/C] exm48186 1 39991342 [A/G] NM_181809,NR_144354,NR_003929,NR_144355,NR_144356,NR_144357 BMP8A,PPIEL,PPIEL,PPIEL,PPIEL,PPIEL EXON Missense_A361T,Silent,Silent,Silent,Silent,Silent rs1180341 1 39992808 [T/C] NM_181809,NR_144354,NR_003929,NR_144355,NR_144356,NR_144357 BMP8A,PPIEL,PPIEL,PPIEL,PPIEL,PPIEL EXON Silent,Silent,Silent,Silent,Silent,Silent rs3768319 1 40026043 [T/G] exm-rs4660293 1 40028180 [A/G] NM_003819,NM_001135653,NM_001135654 PABPC4,PABPC4,PABPC4 Silent,Silent,Silent exm48257 1 40034572 [T/C] NM_003819,NM_001135653,NM_001135654,NR_125979 PABPC4,PABPC4,PABPC4,LOC101929516 EXON Missense_I260V,Missense_I260V,Missense_I260V,Silent rs9438926 1 40035182 [A/G] NM_003819,NM_001135653,NM_001135654,NR_125979 PABPC4,PABPC4,PABPC4,LOC101929516 Silent,Silent,Silent,Silent rs17513135 1 40035686 [T/C] NM_003819,NM_001135653,NM_001135654,NR_125979 PABPC4,PABPC4,PABPC4,LOC101929516 Silent,Silent,Silent,Silent rs2242500 1 40037902 [A/G] NM_003819,NM_001135653,NM_001135654,NR_125979 PABPC4,PABPC4,PABPC4,LOC101929516 Silent,Silent,Silent,Silent exm2264826 1 40049184 [A/G] rs7539279 1 40050568 [A/G] exm48300 1 40092381 [A/G] NM_014571 HEYL EXON Missense_P262L exm48307 1 40092550 [A/C] NM_014571 HEYL EXON Missense_G206C exm48310 1 40092581 [G/C] NM_014571 HEYL EXON Missense_I195M exm48311 1 40092603 [A/G] NM_014571 HEYL EXON Missense_A188V exm48313 1 40092631 [A/G] NM_014571 HEYL EXON Missense_F179L exm48314 1 40092635 [A/C] NM_014571 HEYL EXON Missense_W177C exm2251616 1 40092671 [T/C] NM_014571 HEYL EXON Synonymous_T165T exm48317 1 40092671 [T/C] NM_014571 HEYL EXON Synonymous_T165T exm48328 1 40092784 [T/C] NM_014571 HEYL EXON Missense_V128I exm48333 1 40095907 [T/C] NM_014571 HEYL EXON Missense_G102D exm2275322 1 40097233 [A/G] NM_014571 HEYL EXON Nonsense_R56X exm48341 1 40097239 [A/G] NM_014571 HEYL EXON Missense_R54W exm48342 1 40098328 [T/C] NM_014571 HEYL EXON Missense_H47R rs4660892 1 40104584 [A/G] NM_014571 HEYL Silent rs784622 1 40104814 [A/G] NM_014571 HEYL Silent exm48348 1 40105285 [T/C] NM_014571 HEYL EXON Missense_K5E rs1180280 1 40106095 [A/G] rs16826428 1 40124240 [A/G] exm48350 1 40124804 [A/C] NM_032526 NT5C1A EXON Missense_S366A exm48359 1 40124935 [T/C] NM_032526 NT5C1A EXON Missense_R322H exm48365 1 40125077 [T/C] NM_032526 NT5C1A EXON Missense_I275V variant.2615 1 40129002 [A/G] NM_032526 NT5C1A EXON Nonsense_R180X variant.2616 1 40129057 [T/G] NM_032526 NT5C1A EXON Nonsense_C161X 1KG_1_40129103 1 40129103 [D/I] NM_032526 NT5C1A EXON exm48393 1 40131295 [A/G] NM_032526 NT5C1A EXON Missense_R111W exm48397 1 40131787 [T/C] NM_032526 NT5C1A EXON Missense_H86R exm-rs873917 1 40132795 [T/G] NM_032526 NT5C1A Silent rs1533479 1 40138123 [A/C] rs6663003 1 40143327 [T/C] rs6703320 1 40145297 [T/C] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 EXON Silent,Silent,Silent exm2251617 1 40148295 [A/G] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 EXON Synonymous_D163D,Synonymous_D91D,Synonymous_D163D exm48415 1 40148335 [T/C] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 EXON Missense_R150H,Missense_R78H,Missense_R150H rs784634 1 40149642 [T/G] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 EXON Synonymous_R115R,Silent,Synonymous_R115R exm48429 1 40149791 [T/G] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 EXON Missense_Q66K,Silent,Missense_Q66K rs9662128 1 40150156 [A/G] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 EXON Synonymous_S40S,Synonymous_S40S,Synonymous_S40S exm48439 1 40150222 [A/C] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 EXON Missense_Q18H,Missense_Q18H,Missense_Q18H rs785108 1 40152676 [T/C] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 Silent,Silent,Silent rs564249 1 40155623 [A/G] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 Silent,Silent,Silent rs481423 1 40183922 [T/C] rs704782 1 40184733 [A/G] rs704784 1 40188113 [T/C] rs12406805 1 40190102 [A/G] rs539853 1 40194903 [A/G] newrs11809873 1 40205859 [T/C] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE EXON Synonymous_D18D,Silent,Silent,Synonymous_D18D,Synonymous_D18D,Synonymous_D18D rs497333 1 40207169 [T/G] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE Silent,Silent,Silent,Silent,Silent,Silent exm48456 1 40209586 [A/C] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE EXON Missense_E125A,Silent,Silent,Missense_E125A,Missense_E125A,Missense_E125A exm48457 1 40211072 [A/G] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE EXON Missense_R137H,Silent,Silent,Silent,Missense_R137H,Missense_R137H exm48459 1 40211117 [T/C] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE EXON Missense_P152L,Silent,Silent,Missense_P139L,Missense_P152L,Missense_P152L exm48474 1 40218695 [A/G] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE EXON Missense_E270K,Silent,Silent,Missense_E257K,Missense_E270K,Missense_E270K rs1046988 1 40219065 [T/C] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE EXON Silent,Silent,Silent,Silent,Silent,Silent rs14528 1 40219280 [T/C] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE EXON Silent,Silent,Silent,Silent,Silent,Silent exm2268993 1 40226134 [T/C] NM_203456,NM_001319293,NM_001195007,NM_001720 PPIE,PPIE,PPIE,BMP8B EXON Silent,Silent,Silent,Missense_R389H exm48497 1 40226206 [A/G] NM_203456,NM_001319293,NM_001195007,NM_001720 PPIE,PPIE,PPIE,BMP8B EXON Silent,Silent,Silent,Missense_A365V exm48510 1 40228799 [T/C] NM_203456,NM_001319293,NM_001195007,NM_001720 PPIE,PPIE,PPIE,BMP8B EXON Silent,Silent,Silent,Missense_M342V exm1802536 1 40228846 [A/G] NM_203456,NM_001319293,NM_001195007,NM_001720 PPIE,PPIE,PPIE,BMP8B EXON Silent,Silent,Silent,Missense_S326L exm48554 1 40235561 [A/G] NM_001720,NM_022120 BMP8B,OXCT2 EXON Silent,Missense_P456L exm48557 1 40235614 [T/C] NM_001720,NM_022120 BMP8B,OXCT2 EXON Silent,Missense_M438I indel.2623 1 40236089 [I/D] NM_001720,NM_022120 BMP8B,OXCT2 EXON exm48574 1 40236206 [A/G] NM_001720,NM_022120 BMP8B,OXCT2 EXON Silent,Missense_T241M rs914962 1 40242315 [T/C] NM_001720 BMP8B Silent rs230280 1 40255872 [T/G] rs230284 1 40258993 [A/G] rs2676697 1 40275549 [T/C] rs10889022 1 40286005 [T/C] rs1999574 1 40288051 [A/G] rs6693041 1 40302463 [A/C] rs7315 1 40306898 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm48614 1 40307584 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_A412A,Silent,Silent,Synonymous_A330A,Synonymous_A386A exm1802573 1 40312903 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R332H,Silent,Silent,Missense_R250H,Silent exm48623 1 40312919 [A/G] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R327X,Silent,Silent,Nonsense_R245X,Silent exm48633 1 40313689 [A/G] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R262C,Silent,Silent,Missense_R180C,Missense_R262C variant.2627 1 40315791 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V235I,Silent,Silent,Missense_D155N,Missense_V235I exm48641 1 40315871 [A/G] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T208M,Silent,Silent,Missense_T128M,Missense_T208M exm48642 1 40315880 [A/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R205L,Silent,Silent,Missense_R125L,Missense_R205L exm48643 1 40315888 [T/A] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_F202L,Silent,Silent,Missense_F122L,Missense_F202L variant.2629 1 40319741 [A/G] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm48649 1 40323015 [G/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I83M,Silent,Silent,Silent,Missense_I83M exm48650 1 40323028 [C/G] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R79P,Silent,Silent,Silent,Missense_R79P rs12028138 1 40323973 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17570439 1 40324210 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10489534 1 40325764 [T/G] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm48659 1 40349111 [A/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G18V,Silent,Silent,Missense_G18V,Missense_G18V exm48661 1 40349142 [A/G] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R8X,Silent,Silent,Nonsense_R8X,Nonsense_R8X exm48662 1 40349148 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A6T,Silent,Silent,Missense_A6T,Missense_A6T exm48669 1 40363115 [T/C] NM_001033081,NM_001033082 MYCL,MYCL EXON Missense_T342A,Missense_T372A exm48683 1 40363445 [A/C] NM_001033081,NM_001033082 MYCL,MYCL EXON Missense_G232C,Missense_G262C exm48692 1 40363600 [T/G] NM_001033081,NM_001033082 MYCL,MYCL EXON Missense_S180Y,Missense_S210Y rs3134613 1 40364803 [A/C] NM_001033081,NM_001033082 MYCL,MYCL Silent,Silent exm48711 1 40366962 [A/G] NM_001033081,NM_001033082,NM_005376 MYCL,MYCL,MYCL EXON Missense_P49S,Missense_P79S,Missense_P79S rs7548524 1 40368905 [T/C] rs3131644 1 40389420 [T/C] rs3103780 1 40395169 [A/G] rs12072037 1 40420206 [A/C] variant.2633 1 40424333 [A/G] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.2634 1 40424351 [D/I] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON exm48733 1 40431601 [T/C] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Missense_T54M,Missense_T208M,Silent,Missense_T173M,Missense_T210M,Missense_T95M,Missense_T210M,Missense_T223M exm48750 1 40433345 [T/C] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Missense_R197W,Missense_R351W,Silent,Missense_R314W,Silent,Missense_R238W,Missense_R353W,Missense_R366W exm48753 1 40433537 [T/C] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Missense_A230V,Missense_A384V,Silent,Missense_A347V,Missense_A358V,Missense_A271V,Missense_A386V,Missense_A399V rs3103778 1 40433771 [A/G] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm48764 1 40434281 [A/C] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Missense_R309S,Missense_R463S,Silent,Missense_R426S,Missense_R437S,Missense_R350S,Missense_R465S,Missense_R478S exm48767 1 40434386 [T/C] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Missense_R344W,Missense_R498W,Silent,Missense_R461W,Missense_R472W,Missense_R385W,Missense_R500W,Missense_R513W rs11207227 1 40437923 [T/C] rs4660371 1 40458920 [T/C] rs11207370 1 40499302 [A/G] rs3806207 1 40504550 [T/G] rs3131683 1 40513710 [T/C] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.2638 1 40525007 [A/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm48778 1 40525097 [A/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V var_1_40529898 1 40529898 [A/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm48793 1 40529947 [T/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_V115L,Missense_V115L,Missense_V115L,Missense_V114L,Missense_V114L,Missense_V115L,Missense_V115L,Missense_V114L,Missense_V115L,Missense_V114L,Missense_V115L,Missense_V114L,Missense_V115L,Missense_V115L exm48796 1 40529999 [T/C] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_S132L,Missense_S132L,Missense_S132L,Missense_S131L,Missense_S131L,Missense_S132L,Missense_S132L,Missense_S131L,Missense_S132L,Missense_S131L,Missense_S132L,Missense_S131L,Missense_S132L,Missense_S132L exm48811 1 40533266 [T/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_C229G,Missense_C229G,Missense_C229G,Missense_C228G,Missense_C228G,Missense_C229G,Missense_C229G,Missense_C228G,Missense_C229G,Missense_C228G,Missense_C229G,Missense_C228G,Missense_C229G,Missense_C229G exm48815 1 40533320 [T/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_C247G,Missense_C247G,Missense_C247G,Missense_C246G,Missense_C246G,Missense_C247G,Missense_C247G,Missense_C246G,Missense_C247G,Missense_C246G,Missense_C247G,Missense_C246G,Missense_C247G,Missense_C247G exm48816 1 40533326 [T/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_Y249D,Missense_Y249D,Missense_Y249D,Missense_Y248D,Missense_Y248D,Missense_Y249D,Missense_Y249D,Missense_Y248D,Missense_Y249D,Missense_Y248D,Missense_Y249D,Missense_Y248D,Missense_Y249D,Missense_Y249D exm48819 1 40533347 [T/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_S256A,Missense_S256A,Missense_S256A,Missense_S255A,Missense_S255A,Missense_S256A,Missense_S256A,Missense_S255A,Missense_S256A,Missense_S255A,Missense_S256A,Missense_S255A,Missense_S256A,Missense_S256A exm48821 1 40533357 [T/C] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_A259V,Missense_A259V,Missense_A259V,Missense_A258V,Missense_A258V,Missense_A259V,Missense_A259V,Missense_A258V,Missense_A259V,Missense_A258V,Missense_A259V,Missense_A258V,Missense_A259V,Missense_A259V exm48824 1 40535362 [T/C] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_A270V,Missense_A270V,Missense_A270V,Missense_A269V,Missense_A269V,Missense_A270V,Missense_A270V,Missense_A269V,Missense_A270V,Missense_A269V,Missense_A270V,Missense_A269V,Missense_A270V,Missense_A270V exm48842 1 40535953 [A/T] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Synonymous_V372V,Synonymous_V372V,Synonymous_V372V,Synonymous_V371V,Synonymous_V371V,Synonymous_V372V,Synonymous_V372V,Synonymous_V371V,Synonymous_V372V,Synonymous_V371V,Synonymous_V372V,Synonymous_V371V,Synonymous_V372V,Synonymous_V372V rs7300 1 40538101 [A/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1126973 1 40539076 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Silent,Silent,Silent exm48852 1 40539750 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_I302V,Missense_I278V,Missense_I199V exm48855 1 40539817 [G/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_Q279H,Missense_Q255H,Missense_Q176H exm48856 1 40539849 [T/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_L269M,Missense_L245M,Missense_L166M rs6681804 1 40543019 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent variant.2641 1 40544293 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_L222P,Missense_L222P,Missense_L119P exm48877 1 40546155 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_V181M,Missense_V181M,Missense_V78M newrs148412181 1 40546155 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_V181M,Missense_V181M,Missense_V78M rs3131660 1 40547950 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent rs12118846 1 40553444 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent variant.2644 1 40555082 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_R179H,Missense_R179H,Missense_R76H variant.2646 1 40555128 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Nonsense_R164X,Nonsense_R164X,Nonsense_R61X newrs137852700 1 40555167 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Nonsense_R151X,Nonsense_R151X,Nonsense_R48X exm48881 1 40555167 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Nonsense_R151X,Nonsense_R151X,Nonsense_R48X rs3131651 1 40555321 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent variant.2649 1 40557021 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_S138L,Missense_S138L,Silent exm48883 1 40557033 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_I134T,Missense_I134T,Silent exm48886 1 40557070 [T/A] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_R122W,Missense_R122W,Silent exm48887 1 40557071 [A/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Synonymous_L121L,Synonymous_L121L,Silent newrs117284255 1 40557075 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent exm48890 1 40557750 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_N110S,Missense_N110S,Silent variant.2654 1 40557807 [T/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_Q91P,Missense_Q91P,Silent variant.2655 1 40557846 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent rs4660390 1 40560399 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent rs11207493 1 40560831 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent rs6600317 1 40564994 [T/G] rs12074195 1 40573134 [A/G] rs12077320 1 40585235 [T/C] rs4492609 1 40598775 [T/C] rs6600318 1 40601636 [T/C] exm48910 1 40627183 [T/C] NM_012421 RLF EXON Missense_R38C exm48915 1 40627273 [A/G] NM_012421 RLF EXON Missense_V68I rs4600036 1 40636387 [T/G] NM_012421 RLF Silent rs11207626 1 40646447 [A/G] NM_012421 RLF Silent exm1802696 1 40661311 [A/G] NM_012421 RLF EXON Missense_H161R rs12085717 1 40661363 [T/C] NM_012421 RLF EXON Synonymous_V178V exm48931 1 40668255 [G/C] NM_012421 RLF EXON Missense_S260C rs11589250 1 40668772 [A/G] NM_012421 RLF Silent exm1802711 1 40701699 [A/C] NM_012421 RLF EXON Missense_E442A exm1802712 1 40702253 [A/G] NM_012421 RLF EXON Missense_G627S exm48957 1 40702305 [A/G] NM_012421 RLF EXON Missense_N644S exm48959 1 40702377 [A/G] NM_012421 RLF EXON Missense_R668K exm48964 1 40702496 [T/G] NM_012421 RLF EXON Missense_D708Y exm48971 1 40702974 [A/C] NM_012421 RLF EXON Missense_P867H exm48972 1 40702991 [A/G] NM_012421 RLF EXON Missense_A873T exm48976 1 40703169 [T/C] NM_012421 RLF EXON Missense_V932A exm48979 1 40703244 [A/G] NM_012421 RLF EXON Missense_G957D exm48980 1 40703331 [A/C] NM_012421 RLF EXON Missense_K986T exm48983 1 40703355 [T/C] NM_012421 RLF EXON Missense_F994S exm48989 1 40703451 [T/G] NM_012421 RLF EXON Missense_G1026V exm49001 1 40704231 [A/G] NM_012421 RLF EXON Missense_E1286G exm49009 1 40704525 [T/G] NM_012421 RLF EXON Missense_S1384I exm49011 1 40704569 [T/C] NM_012421 RLF EXON Missense_S1399P exm49029 1 40705203 [T/C] NM_012421 RLF EXON Missense_I1610T exm49031 1 40705238 [T/C] NM_012421 RLF EXON Missense_R1622C exm49034 1 40705260 [T/C] NM_012421 RLF EXON Missense_P1629L exm2251619 1 40705399 [T/C] NM_012421 RLF EXON Synonymous_N1675N exm1802726 1 40705401 [T/A] NM_012421 RLF EXON Missense_H1676L exm49039 1 40705427 [C/G] NM_012421 RLF EXON Missense_Q1685E exm49040 1 40705431 [A/G] NM_012421 RLF EXON Missense_C1686Y exm49047 1 40705578 [A/C] NM_012421 RLF EXON Missense_Q1735P exm49053 1 40705726 [A/T] NM_012421 RLF EXON Missense_E1784D exm1802729 1 40705883 [A/C] NM_012421 RLF EXON Missense_H1837N exm49056 1 40705896 [C/G] NM_012421 RLF EXON Missense_T1841S exm49058 1 40705931 [A/G] NM_012421 RLF EXON Missense_T1853A rs10489429 1 40710071 [A/G] indel.2657 1 40713778 [I/D] NM_001008740 TMCO2 EXON exm49072 1 40716970 [A/G] NM_001008740 TMCO2 EXON Missense_V85I exm49077 1 40717052 [A/G] NM_001008740 TMCO2 EXON Missense_R112Q var_1_40717196 1 40717197 [I/D] NM_001008740 TMCO2 EXON rs926830 1 40722795 [A/G] 1KG_1_40737593 1 40737593 [D/I] NM_005857 ZMPSTE24 EXON variant.2665 1 40737647 [T/G] NM_005857 ZMPSTE24 EXON Nonsense_E237X rs6600323 1 40743727 [A/G] NM_005857 ZMPSTE24 Silent rs10489430 1 40748755 [T/C] NM_005857 ZMPSTE24 Silent exm49140 1 40756572 [A/G] NM_005857 ZMPSTE24 EXON Missense_R369Q var_1_40756603 1 40756603 [T/G] NM_005857 ZMPSTE24 EXON Nonsense_Y379X newrs116771294 1 40758225 [T/C] NM_005857 ZMPSTE24 EXON Missense_L438F exm49145 1 40758297 [G/C] NM_005857 ZMPSTE24 EXON Missense_L462V rs10489432 1 40759231 [A/G] NM_005857 ZMPSTE24 EXON Silent exm49155 1 40766942 [A/G] NM_001852 COL9A2 EXON Missense_P661L exm49156 1 40766943 [T/G] NM_001852 COL9A2 EXON Missense_P661T exm1802762 1 40766972 [T/C] NM_001852 COL9A2 EXON Missense_R651Q exm2273641 1 40767041 [T/C] NM_001852 COL9A2 EXON Missense_R628Q exm49171 1 40767520 [T/C] NM_001852 COL9A2 EXON Missense_G612R rs3737821 1 40768344 [T/C] NM_001852 COL9A2 EXON Missense_V581I exm49181 1 40768344 [T/C] NM_001852 COL9A2 EXON Missense_V581I exm49188 1 40768830 [T/C] NM_001852 COL9A2 EXON Missense_V526M exm1802777 1 40770042 [A/G] NM_001852 COL9A2 EXON Missense_P413S exm49216 1 40770477 [T/G] NM_001852 COL9A2 EXON Missense_M384L exm49231 1 40773119 [T/G] NM_001852 COL9A2 EXON Missense_A336E exm49232 1 40773123 [C/G] NM_001852 COL9A2 EXON Missense_L335V exm49234 1 40773149 [T/C] NM_001852 COL9A2 EXON Missense_Q326R exm49235 1 40773150 [A/G] NM_001852 COL9A2 EXON Nonsense_Q326X rs2075560 1 40773289 [T/C] NM_001852 COL9A2 Silent exm49240 1 40773402 [A/C] NM_001852 COL9A2 EXON Missense_D309E exm1802790 1 40773410 [T/C] NM_001852 COL9A2 EXON Missense_G307S exm49250 1 40775800 [T/C] NM_001852 COL9A2 EXON Missense_G259S exm49256 1 40775937 [A/G] NM_001852 COL9A2 EXON Missense_T246M exm49257 1 40775980 [T/C] NM_001852 COL9A2 EXON Missense_G232S exm49264 1 40776766 [A/G] NM_001852 COL9A2 EXON Missense_P210L exm49270 1 40776934 [T/C] NM_001852 COL9A2 EXON Missense_M182V exm49278 1 40777347 [A/G] NM_001852 COL9A2 EXON Missense_P153L exm49283 1 40777772 [T/G] NM_001852 COL9A2 EXON Missense_P126T exm49295 1 40778246 [T/C] NM_001852 COL9A2 EXON Synonymous_P113P exm49296 1 40778250 [A/C] NM_001852 COL9A2 EXON Missense_L112R rs2273195 1 40779841 [T/G] NM_001852 COL9A2 Silent exm49313 1 40781317 [T/C] NM_001852 COL9A2 EXON Missense_R32Q exm49316 1 40782839 [A/G] NM_001852 COL9A2 EXON Missense_L11F exm49318 1 40782863 [T/C] NM_001852 COL9A2 EXON Missense_A3T rs11207870 1 40789927 [T/C] rs10889285 1 40800486 [A/G] rs388538 1 40823379 [T/G] rs3013462 1 40827598 [T/C] rs209580 1 40845981 [T/C] NM_022733,NM_001198978 SMAP2,SMAP2 Silent,Silent rs209583 1 40847491 [A/C] NM_022733,NM_001198978 SMAP2,SMAP2 Silent,Silent rs6656226 1 40848821 [A/G] NM_022733,NM_001198978 SMAP2,SMAP2 Silent,Silent rs2982506 1 40865633 [A/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 Silent,Silent,Silent,Silent rs2982508 1 40866288 [T/C] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 Silent,Silent,Silent,Silent rs16827275 1 40870545 [T/C] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 Silent,Silent,Silent,Silent rs2982510 1 40872623 [T/C] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 Silent,Silent,Silent,Silent exm49327 1 40874410 [T/C] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_P108L,Missense_P78L,Missense_P103L,Missense_P28L newrs146684027 1 40874410 [T/C] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_P108L,Missense_P78L,Missense_P103L,Missense_P28L exm49328 1 40874411 [A/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 Silent,Silent,Silent,Silent exm49344 1 40880944 [A/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_D191G,Missense_D161G,Missense_D186G,Missense_D111G exm49352 1 40881993 [T/C] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_T276M,Missense_T246M,Missense_T271M,Missense_T196M exm49354 1 40882469 [A/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_A289T,Missense_A259T,Missense_A284T,Missense_A209T exm49358 1 40882560 [C/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_G319A,Missense_G289A,Missense_G314A,Missense_G239A exm49364 1 40882727 [A/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_G375R,Missense_G345R,Missense_G370R,Missense_G295R rs11208057 1 40885832 [A/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 Silent,Silent,Silent,Silent rs2076493 1 40916403 [A/G] NM_023070 ZFP69B EXON Silent rs2982500 1 40921145 [T/G] NM_023070 ZFP69B Silent rs12568089 1 40921238 [T/C] NM_023070 ZFP69B Silent rs10489434 1 40922062 [T/C] NM_023070 ZFP69B Silent exm49382 1 40923018 [T/C] NM_023070 ZFP69B EXON Missense_C115R exm49383 1 40923019 [A/G] NM_023070 ZFP69B EXON Missense_C115Y exm49401 1 40928278 [A/C] NM_023070 ZFP69B EXON Missense_Q208K exm49403 1 40928318 [C/G] NM_023070 ZFP69B EXON Missense_R221T exm49404 1 40928408 [A/G] NM_023070 ZFP69B EXON Missense_R251H variant.2680 1 40928524 [T/C] NM_023070 ZFP69B EXON Nonsense_Q290X exm49407 1 40928552 [A/G] NM_023070 ZFP69B EXON Missense_R299K newrs148910082 1 40928587 [T/G] NM_023070 ZFP69B EXON Nonsense_E311X exm49412 1 40928587 [T/G] NM_023070 ZFP69B EXON Nonsense_E311X exm49416 1 40928708 [T/C] NM_023070 ZFP69B EXON Missense_T351I indel.2682 1 40928712 [I/D] NM_023070 ZFP69B EXON exm49418 1 40928731 [A/G] NM_023070 ZFP69B EXON Missense_G359R exm49419 1 40928744 [A/G] NM_023070 ZFP69B EXON Missense_Y363C variant.2683 1 40928776 [T/C] NM_023070 ZFP69B EXON Nonsense_Q374X exm49420 1 40928780 [A/G] NM_023070 ZFP69B EXON Missense_S375N indel.2684 1 40928884 [D/I] NM_023070 ZFP69B EXON indel.2685 1 40928935 [D/I] NM_023070 ZFP69B EXON exm49426 1 40928950 [A/T] NM_023070 ZFP69B EXON Missense_T432S exm49427 1 40928969 [A/G] NM_023070 ZFP69B EXON Missense_Q438R exm49429 1 40929020 [T/C] NM_023070 ZFP69B EXON Missense_A455V exm2251621 1 40929105 [G/C] NM_023070 ZFP69B EXON Synonymous_A483A rs2982502 1 40930624 [A/G] exm49438 1 40945067 [A/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_E12K,Missense_E12K,Missense_E12K exm49440 1 40947434 [T/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 Silent,Silent,Silent exm49441 1 40947461 [A/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_V52I,Missense_V52I,Missense_V52I exm49443 1 40954838 [G/C] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_L100V,Missense_L100V,Missense_L100V exm49445 1 40954877 [G/C] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_V113L,Missense_V113L,Missense_V113L variant.2688 1 40954891 [A/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 Silent,Silent,Silent exm49447 1 40955200 [C/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Silent,Missense_G117R,Silent indel.2690 1 40955214 [I/D] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON exm49449 1 40960619 [A/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_E157K,Missense_E158K,Missense_E157K exm49458 1 40960827 [A/T] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_F226Y,Missense_F227Y,Missense_F226Y exm49463 1 40960902 [A/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_R251Q,Missense_R252Q,Missense_R251Q exm49465 1 40960959 [A/C] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_T270N,Missense_T271N,Missense_T270N indel.2692 1 40960991 [I/D] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON indel.2694 1 40961250 [D/I] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON indel.2695 1 40961345 [I/D] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON indel.2696 1 40961429 [D/I] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON newrs139946046 1 40961498 [T/C] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Nonsense_Q450X,Nonsense_Q451X,Nonsense_Q450X exm49484 1 40961562 [A/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_R471H,Missense_R472H,Missense_R471H exm2233377 1 40961682 [A/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_S511N,Missense_S512N,Missense_S511N rs7511983 1 40966167 [T/C] rs3795347 1 40974156 [T/C] rs12068587 1 40974799 [T/C] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1KG_1_40980308 1 40980308 [I/D] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON exm49502 1 40980559 [A/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_D115N,Missense_D115N,Missense_D115N,Missense_D115N,Missense_D115N,Missense_D115N,Missense_D115N,Missense_D115N,Missense_D115N,Missense_D115N,Missense_D115N,Missense_D115N indel.2701 1 40980602 [I/D] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON exm49507 1 40980668 [T/C] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_L151P,Missense_L151P,Missense_L151P,Missense_L151P,Missense_L151P,Missense_L151P,Missense_L151P,Missense_L151P,Missense_L151P,Missense_L151P,Missense_L151P,Missense_L151P exm1802873 1 40980695 [A/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_E160G,Missense_E160G,Missense_E160G,Missense_E160G,Missense_E160G,Missense_E160G,Missense_E160G,Missense_E160G,Missense_E160G,Missense_E160G,Missense_E160G,Missense_E160G exm49510 1 40980715 [T/C] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S exm49511 1 40980724 [T/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W rs11208299 1 40980731 [T/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V exm49512 1 40980731 [T/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V exm49514 1 40980757 [A/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_I181V,Missense_I181V,Missense_I181V,Missense_I181V,Missense_I181V,Missense_I181V,Missense_I181V,Missense_I181V,Missense_I181V,Missense_I181V,Missense_I181V,Missense_I181V exm49517 1 40980820 [T/C] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C exm49518 1 40980826 [A/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_M204V,Missense_M204V,Missense_M204V,Missense_M204V,Missense_M204V,Missense_M204V,Missense_M204V,Missense_M204V,Missense_M204V,Missense_M204V,Missense_M204V,Missense_M204V exm49519 1 40980856 [A/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N variant.2704 1 40980879 [A/C] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X exm49528 1 40981135 [A/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V exm49537 1 40981313 [T/C] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V variant.2706 1 41007285 [A/G] NM_152373 ZNF684 Silent rs7524182 1 41010378 [T/C] NM_152373 ZNF684 Silent rs11208363 1 41010454 [A/G] NM_152373 ZNF684 Silent exm49562 1 41012533 [A/C] NM_152373 ZNF684 EXON Missense_N180H newrs149604550 1 41012572 [T/G] NM_152373 ZNF684 EXON Nonsense_G193X exm49574 1 41012585 [A/G] NM_152373 ZNF684 EXON Missense_S197N exm49577 1 41012663 [T/C] NM_152373 ZNF684 EXON Missense_A223V exm49581 1 41012686 [A/G] NM_152373 ZNF684 EXON Missense_V231M exm49582 1 41012726 [A/C] NM_152373 ZNF684 EXON Missense_E244A var_1_41012757 1 41012757 [A/G] NM_152373 ZNF684 EXON Nonsense_W254X exm49595 1 41013073 [A/T] NM_152373 ZNF684 EXON Missense_C360S rs7537003 1 41032059 [A/G] rs4660436 1 41042068 [A/G] rs4660438 1 41050952 [A/G] rs16827403 1 41057570 [A/C] rs618144 1 41073802 [A/G] rs12059305 1 41085926 [A/G] rs570671 1 41091127 [T/C] NM_014747 RIMS3 EXON Silent exm49613 1 41092395 [T/C] NM_014747 RIMS3 EXON Missense_V241I exm49614 1 41094496 [T/C] NM_014747 RIMS3 EXON Missense_G234S exm49615 1 41094502 [A/G] NM_014747 RIMS3 EXON Missense_P232S exm49620 1 41094964 [G/C] NM_014747 RIMS3 EXON Missense_P185A exm49626 1 41095033 [T/C] NM_014747 RIMS3 EXON Missense_I162V rs12562229 1 41105238 [A/G] NM_014747 RIMS3 Silent rs7524868 1 41106774 [T/G] NM_014747 RIMS3 Silent exm2273642 1 41107525 [T/C] NM_014747 RIMS3 EXON Missense_G25S exm49648 1 41107564 [T/C] NM_014747 RIMS3 EXON Missense_G12R rs664350 1 41108094 [T/C] NM_014747 RIMS3 Silent rs2780944 1 41115608 [T/C] NM_014747 RIMS3 Silent rs627178 1 41127976 [T/C] NM_014747 RIMS3 Silent rs12044426 1 41139341 [A/G] rs545218 1 41140985 [A/G] rs965949 1 41154407 [A/G] rs11208727 1 41170670 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent exm-rs1057925 1 41204569 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Synonymous_S18S,Synonymous_S18S,Synonymous_S18S,Synonymous_S18S,Synonymous_S18S,Synonymous_S18S,Synonymous_S18S exm49657 1 41204615 [A/G] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Missense_T34A,Missense_T34A,Missense_T34A,Missense_T34A,Missense_T34A,Missense_T34A,Missense_T34A variant.2719 1 41215314 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Nonsense_R83X,Silent,Nonsense_R83X,Nonsense_R83X,Nonsense_R83X,Nonsense_R83X,Nonsense_R83X variant.2720 1 41215356 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Nonsense_Q97X,Silent,Nonsense_Q97X,Nonsense_Q97X,Nonsense_Q97X,Nonsense_Q97X,Nonsense_Q97X exm2251681 1 41223876 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Synonymous_V157V,Synonymous_V119V,Synonymous_V157V,Synonymous_V157V,Synonymous_V157V,Synonymous_V157V,Synonymous_V157V exm49677 1 41223876 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Synonymous_V157V,Synonymous_V119V,Synonymous_V157V,Synonymous_V157V,Synonymous_V157V,Synonymous_V157V,Synonymous_V157V rs11208830 1 41226602 [A/G] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent,Silent,Silent exm49687 1 41232317 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Missense_V257A,Missense_V219A,Missense_V257A,Missense_V257A,Missense_V223A,Missense_V257A,Missense_V257A variant.2721 1 41232620 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Silent,Silent,Silent,Nonsense_R287X,Silent,Silent,Nonsense_R287X exm49698 1 41236492 [A/G] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Missense_G334S,Missense_G296S,Missense_G333S,Missense_G353S,Missense_G300S,Missense_G438S,Missense_G457S rs753753 1 41237388 [A/G] exm-rs4660456 1 41239511 [A/G] rs2769255 1 41245354 [T/C] rs2769256 1 41248488 [T/C] rs4660464 1 41267258 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs727145 1 41272533 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs11208958 1 41276073 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent exm1806652 1 41282938 [T/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_F106V,Missense_F106V rs4660468 1 41285087 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Synonymous_A259A,Synonymous_A259A exm49741 1 41289822 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Silent,Missense_R395Q rs6697721 1 41293001 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs3767943 1 41293419 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent exm49753 1 41296788 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_M388T,Missense_M442T exm49755 1 41296828 [T/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_H401Q,Missense_H455Q exm49760 1 41296893 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_T423I,Missense_T477I exm2251683 1 41297411 [T/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent exm2268881 1 41306571 [T/C] rs12403717 1 41315867 [A/C] rs913382 1 41323882 [T/C] rs11209041 1 41325801 [A/G] exm49794 1 41327281 [A/C] NM_133467 CITED4 EXON Missense_L173F rs1359893 1 41338665 [A/G] rs913389 1 41343608 [A/G] rs728859 1 41347228 [A/C] rs10158668 1 41351613 [T/C] rs4660481 1 41354681 [T/C] rs4660484 1 41369334 [A/G] rs12133860 1 41370066 [T/C] rs3856250 1 41374443 [T/C] rs6674863 1 41378076 [T/C] rs7515340 1 41386871 [A/G] rs7554973 1 41387003 [T/C] rs1887542 1 41395072 [A/G] rs2361654 1 41399738 [T/G] rs4660492 1 41402143 [T/C] rs12043667 1 41404596 [T/C] rs11209213 1 41406460 [A/G] rs12067645 1 41425864 [A/G] rs12723637 1 41425927 [T/C] rs10789262 1 41437417 [T/C] rs4440845 1 41442786 [T/C] rs16827810 1 41447366 [A/G] NR_125440,NM_001905 CTPS1,CTPS1 Silent,Silent rs7523029 1 41449859 [T/C] NR_125440,NM_001905 CTPS1,CTPS1 Silent,Silent exm2251684 1 41456851 [A/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 EXON Silent,Synonymous_G190G,Synonymous_G34G variant.2729 1 41457472 [A/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 EXON Silent,Synonymous_S225S,Synonymous_S69S indel.2730 1 41461697 [D/I] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 EXON exm1806711 1 41463092 [G/C] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 EXON Silent,Missense_S300C,Missense_S144C newrs36007898 1 41467918 [I/D] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 EXON exm49851 1 41468787 [T/C] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 EXON Silent,Synonymous_G397G,Synonymous_G241G exm1806721 1 41474354 [T/C] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 EXON Silent,Missense_Y473H,Missense_Y317H exm49870 1 41475832 [C/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 Silent,Silent,Silent 1KG_1_41481863 1 41481863 [I/D] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON exm1806733 1 41482960 [A/G] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Synonymous_D349D,Synonymous_D349D,Synonymous_D290D exm49889 1 41482976 [A/G] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_V344A,Missense_V344A,Missense_V285A exm49890 1 41482989 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_D340N,Missense_D340N,Missense_D281N exm49894 1 41483312 [A/G] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_L318F,Missense_L318F,Missense_L259F exm49898 1 41483369 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_D299N,Missense_D299N,Missense_D240N exm49900 1 41483375 [A/G] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_F297L,Missense_F297L,Missense_F238L exm49905 1 41483437 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_R276H,Missense_R276H,Missense_R217H exm49906 1 41483449 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_R272H,Missense_R272H,Missense_R213H exm49908 1 41483486 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_V260M,Missense_V260M,Missense_V201M exm49910 1 41483501 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_G255S,Missense_G255S,Missense_G196S exm49917 1 41483537 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_V243M,Missense_V243M,Missense_V184M exm49919 1 41483567 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_E233K,Missense_E233K,Missense_E174K exm1806741 1 41483578 [G/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_R229P,Missense_R229P,Missense_R170P exm49925 1 41483693 [A/G] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_R191W,Missense_R191W,Silent exm49929 1 41483780 [T/G] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_P162T,Missense_P162T,Silent exm49933 1 41485902 [C/G] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_R144T,Missense_R144T,Missense_R144T exm49944 1 41486083 [A/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Nonsense_E84X,Nonsense_E84X,Nonsense_E84X exm49959 1 41486196 [A/G] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_A46V,Missense_A46V,Missense_A46V exm1806747 1 41486208 [T/A] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_E42V,Missense_E42V,Missense_E42V exm49967 1 41486245 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_A30T,Missense_A30T,Missense_A30T exm49968 1 41486266 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_E23K,Missense_E23K,Missense_E23K exm49974 1 41486326 [A/G] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_P3S,Missense_P3S,Missense_P3S exm50000 1 41494395 [A/G] NR_037868,NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SLFNL1-AS1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Missense_S512L,Missense_S393L,Missense_S490L,Missense_S490L,Silent,Missense_S561L,Missense_S383L,Missense_S573L,Missense_S482L,Missense_S504L exm1806762 1 41512133 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_H411Y,Missense_H314Y,Missense_H411Y,Missense_H411Y,Silent,Missense_H482Y,Missense_H304Y,Missense_H472Y,Missense_H381Y,Missense_H425Y exm50022 1 41512204 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_R387H,Missense_R290H,Missense_R387H,Missense_R387H,Silent,Missense_R458H,Missense_R280H,Missense_R448H,Missense_R357H,Missense_R401H exm50026 1 41514407 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_V350I,Missense_V253I,Missense_V350I,Missense_V350I,Silent,Missense_V421I,Missense_V243I,Missense_V411I,Missense_V320I,Missense_V364I exm50029 1 41514455 [T/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_Q334K,Missense_Q237K,Missense_Q334K,Missense_Q334K,Silent,Missense_Q405K,Missense_Q227K,Missense_Q395K,Missense_Q304K,Missense_Q348K rs4660184 1 41524538 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs6686842 1 41530871 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm50037 1 41540902 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_P252S,Missense_P155S,Missense_P252S,Missense_P252S,Silent,Missense_P323S,Missense_P145S,Missense_P313S,Missense_P222S,Missense_P266S exm50045 1 41541123 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_V178A,Missense_V81A,Missense_V178A,Missense_V178A,Silent,Missense_V249A,Missense_V71A,Missense_V239A,Missense_V148A,Missense_V192A rs6685340 1 41552300 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12022978 1 41554088 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2024860 1 41562243 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3819842 1 41563086 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs213765 1 41582006 [T/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm50063 1 41582667 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_A72V,Silent,Missense_A72V,Missense_A72V,Silent,Missense_A143V,Silent,Missense_A133V,Missense_A42V,Missense_A86V exm50066 1 41608595 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_I52V,Missense_I66V,Missense_I52V,Missense_I52V,Silent,Missense_I123V,Silent,Missense_I113V,Synonymous_L20L,Missense_I66V exm50068 1 41608601 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Nonsense_Q50X,Nonsense_Q64X,Nonsense_Q50X,Nonsense_Q50X,Silent,Nonsense_Q121X,Silent,Nonsense_Q111X,Synonymous_S18S,Nonsense_Q64X rs213769 1 41615358 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2273643 1 41617321 [T/A] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Silent,Silent,Silent,Silent,Missense_C48S,Silent,Missense_C38S,Silent,Silent variant.2747 1 41618271 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G26S,Silent,Silent exm50073 1 41618297 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P17L,Silent,Silent rs11209615 1 41640110 [A/G] NM_001172218,NM_001172220,NM_001172219,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent rs11584802 1 41640686 [A/G] NM_001172218,NM_001172220,NM_001172219,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent exm-rs2154319 1 41745770 [T/C] rs11209799 1 41755556 [T/G] rs12030183 1 41761220 [T/C] rs12037657 1 41764175 [T/C] rs2154317 1 41785792 [A/G] rs16828092 1 41790077 [A/G] rs7355092 1 41800596 [T/G] rs4660190 1 41817502 [T/C] rs7349069 1 41822753 [T/C] rs11585393 1 41830257 [T/C] NM_001291281 FOXO6 Silent rs4660531 1 41839822 [T/G] NM_001291281 FOXO6 Silent rs11209971 1 41844293 [A/G] NM_001291281 FOXO6 Silent rs10889959 1 41849735 [T/C] rs2364546 1 41854357 [A/G] rs10889978 1 41862125 [A/G] rs3845572 1 41864364 [T/C] rs2971987 1 41867980 [A/G] rs2997338 1 41872078 [T/G] rs2801962 1 41878988 [T/C] rs12402711 1 41879081 [A/G] exm-rs12402711 1 41879081 [A/G] rs3856254 1 41883722 [A/G] rs12133441 1 41889513 [A/C] rs4262533 1 41904847 [A/G] rs11210142 1 41910825 [T/C] rs2483692 1 41925050 [T/C] rs1537522 1 41935450 [T/C] rs12069358 1 41940687 [T/C] rs11210250 1 41941115 [A/C] exm50093 1 41945139 [A/G] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Nonsense_R127X,Nonsense_R160X exm50094 1 41945165 [T/G] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Missense_S118Y,Missense_S151Y exm50095 1 41945170 [T/G] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Missense_D116E,Missense_D149E exm50100 1 41946812 [T/C] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Silent,Missense_T133A exm50110 1 41948213 [A/G] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Missense_R90C,Missense_R90C exm50113 1 41949761 [T/C] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Missense_V60I,Missense_V60I exm50116 1 41949838 [A/G] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Missense_A34V,Missense_A34V exm50120 1 41950242 [T/C] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Missense_V11I,Missense_V11I exm1806809 1 41950263 [T/C] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Missense_V4M,Missense_V4M rs3754287 1 41952597 [T/C] exm2264828 1 41953186 [A/G] rs12718439 1 41953745 [T/C] rs6671507 1 41957439 [T/C] rs747459 1 41962681 [T/G] rs2991345 1 41969327 [T/C] rs12043801 1 41971227 [A/C] rs1969749 1 41973908 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Silent,Silent exm50127 1 41976132 [C/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P2403R,Missense_P2404R exm50132 1 41976241 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R2367W,Missense_R2368W exm50148 1 41976422 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_S2306R,Missense_S2307R exm50155 1 41976529 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_G2271R,Missense_G2272R exm50162 1 41976616 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R2242C,Missense_R2243C exm50163 1 41976621 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R2240Q,Missense_R2241Q exm50165 1 41976636 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R2235Q,Missense_R2236Q exm50176 1 41976720 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_G2207E,Missense_G2208E exm50178 1 41976727 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R2205W,Missense_R2206W exm50184 1 41976859 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_H2161Y,Missense_H2162Y exm50185 1 41976865 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_A2159T,Missense_A2160T exm2251688 1 41976914 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Synonymous_P2142P,Synonymous_P2143P exm50188 1 41976928 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_E2138K,Missense_E2139K exm50193 1 41978498 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_A2132T,Missense_A2132T exm50198 1 41978566 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_D2109A,Missense_D2109A exm50203 1 41978647 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R2082Q,Missense_R2082Q exm50212 1 41978849 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_V2015M,Missense_V2015M exm50215 1 41978890 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R2001Q,Missense_R2001Q exm50219 1 41978935 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_S1986L,Missense_S1986L exm50221 1 41978953 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P1980Q,Missense_P1980Q exm50228 1 41979149 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_G1915S,Missense_G1915S exm50241 1 41979283 [G/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_S1870T,Missense_S1870T exm50244 1 41979337 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_D1852G,Missense_D1852G exm50247 1 41979388 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_G1835E,Missense_G1835E exm50249 1 41984079 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_E1822K,Missense_E1822K rs941970 1 41990867 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs638859 1 42001444 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs640688 1 42001831 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs17359178 1 42003752 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs1001925 1 42027561 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs1570359 1 42031065 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent exm50261 1 42041242 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P1727L,Missense_P1727L exm50268 1 42041335 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P1696L,Missense_P1696L exm50270 1 42045432 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Synonymous_S1679S,Synonymous_S1679S exm50273 1 42045514 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R1652K,Missense_R1652K exm1807028 1 42045574 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_I1632R,Missense_I1632R exm50275 1 42045587 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_A1628T,Missense_A1628T exm50277 1 42045688 [A/T] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_Q1594L,Missense_Q1594L exm50280 1 42045709 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_T1587M,Missense_T1587M exm50284 1 42045766 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P1568L,Missense_P1568L exm50285 1 42045770 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P1567S,Missense_P1567S exm50287 1 42045818 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_V1551M,Missense_V1551M exm50288 1 42045829 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_T1547N,Missense_T1547N exm1807037 1 42046300 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_A1390V,Missense_A1390V exm50303 1 42046331 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P1380T,Missense_P1380T exm1807038 1 42046334 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_G1379S,Missense_G1379S exm50308 1 42046372 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_T1366M,Missense_T1366M exm50309 1 42046408 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_A1354V,Missense_A1354V exm2251690 1 42046491 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Synonymous_N1326N,Synonymous_N1326N exm50329 1 42046979 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_S1164P,Missense_S1164P exm50344 1 42047208 [C/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_Q1087H,Missense_Q1087H exm50347 1 42047234 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P1079T,Missense_P1079T exm50349 1 42047282 [C/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P1063A,Missense_P1063A exm50350 1 42047300 [T/A] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_S1057T,Missense_S1057T exm50376 1 42047846 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P875S,Missense_P875S exm50378 1 42047851 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P873L,Missense_P873L exm50383 1 42047957 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R838C,Missense_R838C exm50392 1 42048122 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_G783S,Missense_G783S exm50411 1 42048745 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_H575R,Missense_H575R exm1807063 1 42048794 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_G559S,Missense_G559S exm1807064 1 42048869 [C/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P534A,Missense_P534A exm50434 1 42049250 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P407T,Missense_P407T exm1807075 1 42049603 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_S289N,Missense_S289N exm50476 1 42050069 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_V134M,Missense_V134M exm50477 1 42050090 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P127S,Missense_P127S exm50480 1 42050182 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P96L,Missense_P96L exm50483 1 42050248 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_T74M,Missense_T74M exm50490 1 42050342 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_A43S,Missense_A43S exm50494 1 42050366 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_V35I,Missense_V35I rs2146315 1 42050366 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_V35I,Missense_V35I exm50496 1 42050432 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_A13T,Missense_A13T rs17363834 1 42076607 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs7515066 1 42076915 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs7519983 1 42083369 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs1109255 1 42091708 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs2038976 1 42094498 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Silent,Silent rs4083593 1 42099583 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent exm2251698 1 42105488 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs11210508 1 42106935 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs7541348 1 42113215 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs12141084 1 42117737 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent kgp9738681 1 42118766 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs10890160 1 42120011 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs2077354 1 42180082 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent exm2268882 1 42202714 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs2099757 1 42219601 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs12746339 1 42223133 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs2165303 1 42228019 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs6693668 1 42232085 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs6680824 1 42236004 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs1533184 1 42238233 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs765040 1 42239717 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs349429 1 42242941 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs2492604 1 42253788 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs400187 1 42255767 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs10493098 1 42261889 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs349454 1 42269458 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs401869 1 42281302 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs168382 1 42296145 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs12562508 1 42297236 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs509814 1 42315945 [T/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs12734651 1 42330585 [A/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs783432 1 42335347 [A/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs2993120 1 42350837 [A/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs811461 1 42360713 [A/G] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs783622 1 42366988 [A/G] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs2764839 1 42368704 [A/G] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs12086766 1 42387990 [T/G] NR_038261 HIVEP3 Silent rs4660584 1 42390317 [T/C] NR_038261 HIVEP3 Silent rs653944 1 42424594 [A/G] NR_038261 HIVEP3 Silent rs4660590 1 42441288 [A/G] NR_038261 HIVEP3 Silent rs654961 1 42444975 [T/G] NR_038261 HIVEP3 Silent rs168341 1 42467921 [A/G] NR_038261 HIVEP3 Silent rs4660210 1 42476676 [T/C] NR_038261 HIVEP3 Silent rs6683904 1 42486843 [A/G] NR_038261 HIVEP3 Silent rs6689536 1 42487523 [T/C] NR_038261 HIVEP3 Silent rs4660600 1 42513929 [A/G] rs6691697 1 42534375 [A/G] rs10157817 1 42547061 [T/C] rs9943167 1 42551252 [A/G] rs1016867 1 42570803 [A/G] rs1024909 1 42571439 [T/C] rs6672120 1 42577444 [T/C] rs11210587 1 42580407 [A/G] rs7542228 1 42598964 [A/G] rs4660610 1 42616910 [A/G] rs12069432 1 42618740 [A/G] exm50511 1 42620492 [T/C] NM_007102 GUCA2B EXON Missense_P78S rs3818727 1 42621645 [A/G] exm50528 1 42628581 [T/C] NM_033553 GUCA2A EXON Missense_C115Y exm50531 1 42628591 [A/T] NM_033553 GUCA2A EXON Missense_C112S exm50534 1 42628615 [A/G] NM_033553 GUCA2A EXON Missense_C104R exm50537 1 42629092 [A/C] NM_033553 GUCA2A EXON Nonsense_E89X exm50539 1 42629099 [T/A] NM_033553 GUCA2A EXON Missense_N86K exm50544 1 42629176 [T/C] NM_033553 GUCA2A EXON Missense_G61S exm1810585 1 42629184 [C/G] NM_033553 GUCA2A EXON Missense_P58R exm50551 1 42630341 [A/G] NM_033553 GUCA2A EXON Missense_W15R exm50554 1 42630364 [A/G] NM_033553 GUCA2A EXON Missense_S7F exm1810588 1 42630367 [A/G] NM_033553 GUCA2A EXON Missense_L6P rs686247 1 42644770 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Silent,Silent,Silent,Silent exm50557 1 42645389 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_I621V,Missense_I587V,Missense_I621V,Missense_I621V exm50581 1 42657138 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_R396H,Missense_R362H,Missense_R396H,Missense_R396H exm50585 1 42657196 [T/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_T377P,Missense_T343P,Missense_T377P,Missense_T377P exm50587 1 42657223 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_V368I,Missense_V334I,Missense_V368I,Missense_V368I exm50590 1 42657270 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_S352N,Missense_S318N,Missense_S352N,Missense_S352N exm50599 1 42660679 [A/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_Q272H,Missense_Q238H,Missense_Q272H,Missense_Q272H exm50600 1 42660684 [A/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_P271S,Missense_P237S,Missense_P271S,Missense_P271S exm50608 1 42671431 [A/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent newrs148054297 1 42671432 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent exm1810615 1 42671481 [A/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_I194M,Silent,Missense_I194M,Missense_I194M rs343376 1 42693597 [A/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_V162A,Missense_V162A,Missense_V162A,Missense_V162A exm50616 1 42693597 [A/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_V162A,Missense_V162A,Missense_V162A,Missense_V162A rs608277 1 42702344 [A/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs510157 1 42727950 [T/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent newrs145616593 1 42730809 [A/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Nonsense_R141X,Nonsense_R141X,Nonsense_R141X,Nonsense_R141X rs12402117 1 42738366 [A/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent variant.2762 1 42744014 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent exm2251739 1 42744214 [T/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Synonymous_A58A,Synonymous_A58A,Synonymous_A58A,Synonymous_A58A rs3754280 1 42748731 [A/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs10736423 1 42768969 [T/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs1566584 1 42797765 [A/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs913426 1 42806191 [A/G] exm2264829 1 42806191 [A/G] rs1536651 1 42823768 [A/G] rs6679533 1 42835396 [T/C] rs12119170 1 42856160 [T/C] NM_173642 RIMKLA Silent rs4660630 1 42864868 [T/C] NM_173642 RIMKLA Silent exm50639 1 42865200 [T/C] NM_173642 RIMKLA EXON Missense_R97W exm50644 1 42870265 [T/C] NM_173642 RIMKLA EXON Missense_R160W variant.2763 1 42875858 [A/G] NM_173642 RIMKLA EXON Missense_G229S rs7413966 1 42876423 [A/G] NM_173642 RIMKLA Silent rs7418303 1 42876696 [T/C] NM_173642 RIMKLA Silent exm50657 1 42880442 [A/G] NM_173642 RIMKLA EXON Missense_E325K exm-rs1055055 1 42880516 [T/C] NM_173642 RIMKLA EXON Synonymous_S349S exm50669 1 42896432 [T/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Nonsense_S248X,Nonsense_S358X exm50670 1 42896441 [A/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_S245I,Missense_S355I exm50675 1 42898836 [T/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_Y208S,Missense_Y318S exm50676 1 42898843 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_F206L,Missense_F316L exm50678 1 42898854 [T/A] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_I202N,Missense_I312N exm50680 1 42898933 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_R176C,Missense_R286C rs3748845 1 42901082 [A/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent variant.2766 1 42902087 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent exm50689 1 42902142 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_I113V,Missense_I223V rs7529199 1 42904304 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent exm50692 1 42905547 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_R82C,Missense_R192C rs1002701 1 42913695 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent var_1_42914133 1 42914133 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent exm1810673 1 42915594 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_A30V,Missense_R83W exm50704 1 42915660 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_A8V,Missense_R61C rs16829544 1 42915764 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent rs12039696 1 42918754 [A/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent variant.2769 1 42925448 [T/C] NM_001355226,NM_001287507,NM_001287506,NM_001287511,NM_001287508,NM_024664,NM_001287510,NM_001287509,NM_001077447 CCDC30,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS EXON Silent,Nonsense_R57X,Nonsense_R90X,Silent,Nonsense_R90X,Nonsense_R263X,Nonsense_R90X,Nonsense_R90X,Nonsense_R90X exm50749 1 42925453 [C/G] NM_001355226,NM_001287507,NM_001287506,NM_001287511,NM_001287508,NM_024664,NM_001287510,NM_001287509,NM_001077447 CCDC30,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS EXON Silent,Missense_Q58H,Missense_Q91H,Silent,Missense_Q91H,Missense_Q264H,Missense_Q91H,Missense_Q91H,Missense_Q91H rs17379506 1 42955174 [A/G] NM_001355226,NM_001355224,NM_001355227 CCDC30,CCDC30,CCDC30 Silent,Silent,Silent rs11210656 1 42975123 [A/G] NM_001355226,NM_001355224,NM_001355227 CCDC30,CCDC30,CCDC30 Silent,Silent,Silent variant.2771 1 43002272 [T/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Silent,Silent,Silent,Missense_E39D exm50763 1 43004873 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Silent,Silent,Silent,Missense_I49M indel.2772 1 43004895 [I/D] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON exm50769 1 43004958 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Silent,Silent,Silent,Missense_E78K exm50770 1 43004982 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent variant.2774 1 43011225 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Silent,Silent,Silent,Nonsense_R134X rs12035932 1 43019135 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent indel.2775 1 43021828 [D/I] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON exm50781 1 43021838 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Silent,Silent,Silent,Missense_G146E rs11210669 1 43024213 [T/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs4660646 1 43029788 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent variant.2776 1 43031965 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs2762697 1 43042125 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent exm50802 1 43042767 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_Y9C,Missense_Y9C,Missense_Y9C,Missense_Y311C variant.2777 1 43042900 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Synonymous_K53K,Synonymous_K53K,Synonymous_K53K,Synonymous_K355K rs1016544 1 43045757 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs2809658 1 43050396 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent exm50811 1 43055036 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_R120K,Missense_R120K,Missense_R120K,Missense_R422K rs6660322 1 43062732 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs12025456 1 43073504 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs6600414 1 43075687 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs6600418 1 43101562 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent exm50825 1 43102970 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_T218I,Missense_T218I,Missense_T218I,Missense_T520I exm50826 1 43102987 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Nonsense_R224X,Nonsense_R224X,Nonsense_R224X,Nonsense_R526X rs1951918 1 43104952 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent exm50830 1 43108172 [A/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_A254D,Missense_A254D,Missense_A254D,Missense_A556D exm50832 1 43108222 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_I271V,Missense_I271V,Missense_I271V,Missense_I573V rs7523056 1 43110276 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent exm50837 1 43110409 [A/T] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_S305R,Missense_S305R,Missense_S305R,Missense_S607R exm50843 1 43111889 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_I356M,Missense_I356M,Missense_I356M,Missense_I658M newrs147914563 1 43119487 [A/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Silent,Silent,Silent,Silent variant.2782 1 43119529 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Nonsense_Q426X,Nonsense_Q426X,Silent,Nonsense_Q728X exm50855 1 43119661 [A/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_H470N,Missense_H470N,Silent,Missense_H772N rs12145700 1 43123855 [T/C] variant.2786 1 43125238 [T/G] NM_001330510,NM_006347 PPIH,PPIH Silent,Silent rs7556478 1 43131653 [A/G] NM_001330510,NM_006347 PPIH,PPIH EXON Synonymous_A70A,Synonymous_A113A exm50878 1 43131694 [T/C] NM_001330510,NM_006347 PPIH,PPIH EXON Missense_T84I,Missense_T127I exm50879 1 43132241 [A/G] NM_001330510,NM_006347 PPIH,PPIH EXON Missense_V107M,Missense_V150M exm50880 1 43132254 [T/C] NM_001330510,NM_006347 PPIH,PPIH EXON Missense_I111T,Missense_I154T rs912074 1 43144021 [T/C] indel.2790 1 43149024 [I/D] NM_004559,NR_132737 YBX1,YBX1 EXON rs11210696 1 43155062 [T/G] NM_004559,NR_132737 YBX1,YBX1 Silent,Silent rs10493113 1 43158510 [T/C] NM_004559,NR_132737 YBX1,YBX1 Silent,Silent exm2251751 1 43162318 [A/G] NM_004559,NR_132737 YBX1,YBX1 EXON Synonymous_A120A,Silent exm50904 1 43162587 [A/C] NM_004559,NR_132737 YBX1,YBX1 EXON Missense_N210T,Silent exm50905 1 43162873 [T/G] NM_004559,NR_132737 YBX1,YBX1 EXON Missense_G227V,Silent exm50929 1 43200774 [A/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_G220C,Silent,Silent exm50931 1 43200786 [T/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_A216T,Silent,Silent exm50936 1 43201534 [A/G] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Silent,Silent,Missense_R186C exm50938 1 43201576 [T/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_R200Q,Missense_R200Q,Missense_G172S exm50939 1 43201614 [T/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Synonymous_P187P,Synonymous_P187P,Missense_R159Q rs7548008 1 43202095 [A/G] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 Silent,Silent,Silent rs10890212 1 43202636 [T/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 Silent,Silent,Silent exm50951 1 43204203 [T/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_V93M,Missense_V93M,Missense_V93M exm50954 1 43204251 [T/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_I77V,Missense_I77V,Missense_I77V exm50957 1 43205670 [A/G] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_I22T,Missense_I22T,Missense_I22T exm50959 1 43205696 [A/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_L13F,Missense_L13F,Missense_L13F exm50983 1 43212926 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_A691V,Missense_A691V,Silent exm50990 1 43213035 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_T655A,Missense_T655A,Missense_T655A exm50991 1 43213068 [T/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_Q644K,Missense_Q644K,Missense_Q644K rs7552138 1 43213610 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 Silent,Silent,Silent exm51004 1 43213903 [T/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_K602N,Missense_K602N,Missense_K602N exm51005 1 43213914 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_V599M,Missense_V599M,Missense_V599M exm51012 1 43215917 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_R554C,Missense_R554C,Missense_R554C exm51014 1 43215930 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_M549I,Missense_M549I,Missense_M549I exm51016 1 43215952 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_T542M,Missense_T542M,Missense_T542M variant.2800 1 43217944 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 Silent,Silent,Silent exm51022 1 43217985 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_N510S,Missense_N510S,Missense_N510S exm51024 1 43218010 [C/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_G502R,Missense_G502R,Missense_G502R exm51025 1 43218013 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_R501W,Missense_R501W,Missense_R501W newrs114044880 1 43218203 [A/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 Silent,Silent,Silent exm51040 1 43220563 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_D441G,Missense_D441G,Missense_D441G exm51047 1 43220642 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_V415I,Missense_V415I,Missense_V415I exm51052 1 43220851 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_L403S,Missense_L403S,Missense_L403S exm51058 1 43221302 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_K363E,Missense_K363E,Missense_K363E indel.2803 1 43221309 [I/D] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 exm51061 1 43223453 [A/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 Silent,Silent,Silent exm51065 1 43223489 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_G349R,Missense_G349R,Missense_G349R exm51079 1 43224953 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_R243C,Missense_R243C,Missense_R243C exm51086 1 43225039 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_R214Q,Missense_R214Q,Missense_R214Q exm51093 1 43228001 [T/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_P204H,Missense_P204H,Missense_P204H exm51108 1 43232504 [A/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_A47S,Missense_A47S,Missense_A47S exm1811184 1 43232562 [G/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_E27D,Missense_E27D,Missense_E27D exm51112 1 43232984 [T/C] NR_040733,NM_024097 C1orf50,C1orf50 EXON Silent,Missense_M1T exm51121 1 43233204 [A/C] NR_040733,NM_024097 C1orf50,C1orf50 EXON Silent,Missense_T35N rs17385526 1 43238031 [A/G] NR_040733,NM_024097 C1orf50,C1orf50 Silent,Silent exm51127 1 43239249 [T/C] NR_040733,NM_024097 C1orf50,C1orf50 EXON Silent,Nonsense_R71X exm51128 1 43239274 [A/C] NR_040733,NM_024097 C1orf50,C1orf50 EXON Silent,Missense_T79K indel.2810 1 43239279 [I/D] NR_040733,NM_024097 C1orf50,C1orf50 EXON exm51132 1 43240460 [T/C] NR_040733,NM_024097 C1orf50,C1orf50 EXON Silent,Missense_I112T exm51138 1 43240901 [T/C] NR_040733,NM_024097 C1orf50,C1orf50 EXON Silent,Missense_H146Y exm51140 1 43240962 [T/C] NR_040733,NM_024097 C1orf50,C1orf50 EXON Silent,Missense_I166T exm51143 1 43240998 [T/C] NR_040733,NM_024097 C1orf50,C1orf50 EXON Silent,Missense_T178M rs719676 1 43254108 [A/G] NM_001354602 TMEM269 Silent rs7547717 1 43261781 [T/G] NM_001354602 TMEM269 Silent 1KG_1_43263770 1 43263770 [D/I] NM_001354602 TMEM269 EXON rs323720 1 43271033 [T/C] variant.2813 1 43273061 [T/C] NM_199342 SVBP EXON Silent exm51154 1 43282121 [T/C] NM_199342 SVBP EXON Missense_K32R exm51155 1 43282125 [C/G] NM_199342 SVBP EXON Missense_L31V exm51160 1 43296130 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_A4V,Missense_A4V exm51163 1 43296183 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R22W,Missense_R22W exm51165 1 43296195 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_H26Y,Missense_H26Y exm51168 1 43296456 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_G35S,Missense_G35S exm51172 1 43296522 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_G57R,Missense_G57R exm51179 1 43296594 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R81W,Missense_R81W exm51192 1 43301427 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_T192M,Missense_T192M newrs144054863 1 43301431 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Synonymous_E193E,Synonymous_E193E variant.2817 1 43301433 [T/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_V194G,Missense_V194G variant.2818 1 43301435 [T/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_D195Y,Missense_D195Y indel.2820 1 43304589 [D/I] NM_001017922,NM_018538 ERMAP,ERMAP EXON exm51206 1 43305713 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R216Q,Missense_R216Q rs12034000 1 43305753 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent variant.2821 1 43305945 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Nonsense_W230X,Nonsense_W230X exm51215 1 43308263 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_G263E,Missense_G263E exm51218 1 43308310 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_V279I,Missense_V279I exm51219 1 43308341 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_T289M,Missense_T289M exm1811291 1 43308367 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_Y298H,Missense_Y298H exm51229 1 43308451 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_N326D,Missense_N326D exm51234 1 43308524 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R350H,Missense_R350H indel.2823 1 43308591 [I/D] NM_001017922,NM_018538 ERMAP,ERMAP EXON exm51241 1 43308650 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R392H,Missense_R392H exm51242 1 43308702 [A/T] NM_001017922,NM_018538 ERMAP,ERMAP EXON Synonymous_L409L,Synonymous_L409L exm2251756 1 43308702 [A/T] NM_001017922,NM_018538 ERMAP,ERMAP EXON Synonymous_L409L,Synonymous_L409L variant.2824 1 43308713 [A/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Nonsense_S413X,Nonsense_S413X exm51246 1 43316652 [A/G] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Missense_S39N,Missense_S8N exm51249 1 43316688 [A/G] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Missense_G51D,Missense_G20D exm51261 1 43316924 [G/C] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Missense_L130V,Missense_L99V exm1811302 1 43317023 [T/C] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Missense_R163W,Missense_R132W rs9960 1 43317793 [A/G] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Silent,Silent rs12022524 1 43326208 [T/C] NR_104171 LOC339539 Silent rs1601241 1 43342566 [T/C] NR_104171 LOC339539 Silent rs6674019 1 43353134 [T/G] NR_104171 LOC339539 EXON Silent rs12564800 1 43367726 [A/C] rs6699129 1 43374498 [A/G] rs1098782 1 43381026 [A/G] rs11808693 1 43381734 [T/C] exm51289 1 43393338 [T/C] NM_006516 SLC2A1 EXON Missense_V406I rs2306662 1 43394612 [T/C] NM_006516 SLC2A1 EXON Synonymous_L355L exm51298 1 43394661 [A/G] NM_006516 SLC2A1 EXON Missense_I339T exm51318 1 43395326 [A/G] NM_006516 SLC2A1 EXON Missense_R269C exm1811395 1 43396718 [T/G] NM_006516 SLC2A1 EXON Synonymous_R92R rs3754219 1 43399686 [A/C] NM_006516 SLC2A1 Silent rs3729548 1 43400352 [T/C] NM_006516 SLC2A1 Silent rs841852 1 43401499 [T/C] NM_006516 SLC2A1 Silent rs12130264 1 43406700 [T/C] NM_006516 SLC2A1 Silent exm51361 1 43408984 [T/C] NM_006516 SLC2A1 EXON Synonymous_T9T rs2086856 1 43412259 [A/G] NM_006516 SLC2A1 Silent rs2297977 1 43415288 [T/G] NM_006516 SLC2A1 Silent rs17387775 1 43416133 [T/C] NM_006516 SLC2A1 Silent rs2297972 1 43418026 [T/C] NM_006516 SLC2A1 Silent rs3768045 1 43421524 [T/C] NM_006516 SLC2A1 Silent rs841572 1 43436051 [A/G] NR_033967 SLC2A1-AS1 EXON Silent rs3738516 1 43440201 [A/C] NR_033967 SLC2A1-AS1 Silent exm2268677 1 43450729 [T/C] rs7515271 1 43451901 [A/G] rs4660697 1 43458250 [T/C] rs2792599 1 43467068 [A/C] rs841568 1 43468555 [A/G] rs9326132 1 43471182 [T/G] rs607464 1 43536477 [A/G] rs1152771 1 43537981 [T/C] rs507481 1 43543617 [T/C] rs578598 1 43587725 [A/G] rs16830355 1 43595231 [A/G] exm-rs16830359 1 43596384 [A/G] exm2265003 1 43597014 [A/G] rs7518482 1 43597229 [T/C] rs558404 1 43602321 [T/C] rs626842 1 43610910 [T/G] rs627263 1 43611005 [A/G] exm51396 1 43613737 [A/G] NM_001101376 FAM183A EXON Missense_V39M rs10890239 1 43615173 [T/C] NM_001101376 FAM183A Silent var_1_43616475 1 43616475 [A/G] NM_001101376 FAM183A EXON Synonymous_L59L variant.2833 1 43616479 [T/G] NM_001101376 FAM183A EXON Nonsense_E61X variant.2834 1 43616486 [T/C] NM_001101376 FAM183A EXON Missense_A63V exm51407 1 43621877 [A/G] NM_001101376 FAM183A EXON Missense_I100V exm51411 1 43621956 [A/G] NM_001101376 FAM183A EXON Nonsense_W126X exm51412 1 43621973 [T/C] NM_001101376 FAM183A EXON Missense_H132Y exm51416 1 43630315 [T/A] NM_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON Missense_N290I,Missense_N345I exm51420 1 43630460 [A/G] NM_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON Missense_R242W,Missense_R297W exm51423 1 43632536 [T/C] NM_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON Missense_R223H,Missense_R278H exm51424 1 43632537 [A/G] NM_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON Missense_R223C,Missense_R278C variant.2842 1 43636480 [A/G] NM_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON Nonsense_R132X,Nonsense_R187X rs6695238 1 43638436 [T/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Synonymous_V4V,Synonymous_V4V,Synonymous_V4V exm51465 1 43638455 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_V11I,Missense_V11I,Missense_V11I rs621559 1 43645411 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 Silent,Silent,Silent exm-rs621559 1 43645411 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 Silent,Silent,Silent exm51470 1 43647253 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R69Q,Missense_R69Q,Missense_R69Q exm51481 1 43647421 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_Q125R,Missense_Q125R,Missense_Q125R exm51482 1 43647422 [C/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_Q125H,Missense_Q125H,Missense_Q125H exm51483 1 43647424 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_T126M,Missense_T126M,Missense_T126M exm51487 1 43647483 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_I146V,Missense_I146V,Missense_I146V exm51490 1 43649334 [T/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_A183S,Missense_A183S,Missense_A183S exm51496 1 43649424 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_V213I,Missense_V213I,Missense_V213I exm51499 1 43649473 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R229H,Missense_R229H,Missense_R229H rs663824 1 43649508 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_N241D,Missense_N241D,Missense_N241D exm51500 1 43649508 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_N241D,Missense_N241D,Missense_N241D exm51512 1 43651024 [C/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_I322M,Missense_I322M,Missense_I322M exm51516 1 43652442 [C/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_C345S,Missense_C345S,Missense_C345S exm51528 1 43663342 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R414H,Missense_R414H,Missense_R414H exm51532 1 43664170 [C/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_K427N,Missense_K427N,Missense_K427N rs603123 1 43664218 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Synonymous_H443H,Synonymous_H443H,Synonymous_H443H rs12026626 1 43666683 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 Silent,Silent,Silent rs620418 1 43671182 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 Silent,Silent,Silent exm51547 1 43672394 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R516C,Missense_R516C,Missense_R516C exm51553 1 43672499 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_V551M,Missense_V551M,Missense_V551M exm51557 1 43672574 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_H576Y,Missense_H576Y,Missense_H576Y newrs146369173 1 43672605 [T/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 Silent,Silent,Silent variant.2849 1 43675420 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Nonsense_R588X,Nonsense_R588X,Nonsense_R588X exm51565 1 43675478 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R607H,Missense_R607H,Missense_R607H exm51566 1 43675499 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_S614L,Missense_S614L,Missense_S614L exm51568 1 43675513 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R619C,Missense_R619C,Missense_R619C exm51569 1 43675514 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R619H,Missense_R619H,Missense_R619H exm51576 1 43675657 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_T667A,Silent,Missense_T667A indel.2851 1 43675679 [I/D] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON indel.2852 1 43675747 [I/D] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON rs611261 1 43681872 [T/C] NM_001195831 CFAP57 Silent rs510789 1 43693624 [A/G] NM_001195831 CFAP57 Silent rs622762 1 43695653 [T/C] NM_001195831 CFAP57 Silent rs522909 1 43696080 [T/G] NM_001195831 CFAP57 Silent rs7556572 1 43704023 [A/G] NM_001195831 CFAP57 Silent rs3898794 1 43707220 [A/G] NM_001195831 CFAP57 Silent rs10493115 1 43707283 [T/C] NM_001195831 CFAP57 Silent rs3862226 1 43707556 [A/C] NM_001195831 CFAP57 Silent exm51611 1 43738488 [A/G] NM_001320244,NM_144626 TMEM125,TMEM125 EXON Missense_R32Q,Missense_R32Q exm51640 1 43738829 [A/G] NM_001320244,NM_144626 TMEM125,TMEM125 EXON Missense_A146T,Missense_A146T exm51641 1 43738833 [T/C] NM_001320244,NM_144626 TMEM125,TMEM125 EXON Missense_M147T,Missense_M147T exm51646 1 43738950 [T/C] NM_001320244,NM_144626 TMEM125,TMEM125 EXON Missense_T186I,Missense_T186I rs2991996 1 43741713 [A/G] rs4660727 1 43746448 [T/C] exm51655 1 43748549 [A/C] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_D83E,Missense_D83E exm51662 1 43748701 [T/C] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_V33M,Missense_V33M exm51665 1 43748757 [T/A] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_L14H,Missense_L14H exm51666 1 43748763 [A/G] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_S12L,Missense_S12L exm51669 1 43748937 [T/C] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_N2S,Missense_N2S rs6690113 1 43757955 [A/G] exm51673 1 43766753 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Silent,Missense_R4Q rs7527092 1 43767138 [A/G] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent exm51688 1 43770936 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_V91M,Missense_V136M exm51689 1 43771013 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Synonymous_N116N,Synonymous_N161N exm51695 1 43772550 [T/A] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_D130V,Missense_D175V exm51697 1 43772592 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_S144L,Missense_S189L exm51699 1 43772597 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_G146S,Missense_G191S exm51704 1 43772665 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Synonymous_R168R,Synonymous_R213R exm51705 1 43772818 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_G171R,Missense_G216R exm51711 1 43772905 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_V200I,Missense_V245I exm1811977 1 43773117 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_R218C,Missense_R263C exm51713 1 43773143 [C/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_Q226H,Missense_Q271H rs1467809 1 43774437 [A/G] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent exm2251775 1 43775103 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Synonymous_F366F,Synonymous_F411F exm51735 1 43775113 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_R370C,Missense_R415C exm2275444 1 43775114 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_R370H,Missense_R415H exm51736 1 43775126 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_A374V,Missense_A419V exm51738 1 43777350 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_V403M,Missense_V448M exm51745 1 43777417 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_S425L,Missense_S470L exm51772 1 43778866 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_T618I,Missense_T663I exm51778 1 43778994 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_R661C,Missense_R706C exm1812019 1 43779072 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_V687I,Missense_V732I exm51783 1 43779095 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Synonymous_N694N,Synonymous_N739N exm51803 1 43782900 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_G769R,Missense_G814R exm51806 1 43782957 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_V788M,Missense_V833M exm51812 1 43783021 [T/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_I809S,Missense_I854S indel.2866 1 43783610 [D/I] NM_001253357,NM_005424 TIE1,TIE1 EXON exm51834 1 43785133 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_R969C,Missense_R1014C exm51845 1 43787352 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_A1059V,Missense_A1104V exm51847 1 43787367 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_R1064H,Missense_R1109H rs11210834 1 43787437 [A/G] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent exm51853 1 43803600 [T/A] NM_005373 MPL Silent exm51857 1 43803807 [T/G] NM_005373 MPL EXON Missense_K39N exm2233409 1 43803863 [T/C] NM_005373 MPL EXON Missense_A58V exm51863 1 43803875 [T/C] NM_005373 MPL EXON Missense_T62I exm51865 1 43803899 [T/C] NM_005373 MPL EXON Missense_P70L exm51868 1 43803903 [A/G] NM_005373 MPL Silent var_1_43804304 1 43804304 [T/C] NM_005373 MPL EXON Missense_R102C exm51879 1 43804340 [A/G] NM_005373 MPL EXON Missense_V114M indel.2875 1 43804376 [I/D] NM_005373 MPL EXON exm51889 1 43805143 [A/G] NM_005373 MPL EXON Missense_Q198R exm51894 1 43805205 [G/C] NM_005373 MPL EXON Missense_Q219E exm51895 1 43805227 [A/C] NM_005373 MPL EXON Missense_S226Y exm51896 1 43805240 [A/G] NM_005373 MPL EXON Synonymous_E230E exm51897 1 43805656 [T/G] NM_005373 MPL EXON Missense_G238C exm51898 1 43805698 [T/C] NM_005373 MPL EXON Missense_Y252H exm1812074 1 43805737 [T/C] NM_005373 MPL EXON Missense_L265F variant.2878 1 43805802 [T/G] NM_005373 MPL Silent exm51902 1 43806060 [A/G] NM_005373 MPL EXON Missense_A286T exm51907 1 43806166 [A/G] NM_005373 MPL EXON Missense_R321Q exm51914 1 43812138 [A/G] NM_005373 MPL EXON Missense_E335K exm51918 1 43812237 [T/G] NM_005373 MPL EXON Missense_V368L exm1812087 1 43812255 [A/G] NM_005373 MPL EXON Missense_T374A var_1_43812573 1 43812573 [T/C] NM_005373 MPL EXON Nonsense_R426X exm51943 1 43817931 [A/G] NM_005373 MPL EXON Missense_R537Q exm51947 1 43817974 [A/G] NM_005373 MPL EXON Synonymous_P551P exm51950 1 43818201 [T/G] NM_005373 MPL EXON Missense_V556F exm51957 1 43818376 [C/G] NM_005373 MPL EXON Missense_G614A exm2233411 1 43826019 [A/G] NM_001255 CDC20 EXON Missense_G238S exm51989 1 43826260 [T/G] NM_001255 CDC20 EXON Missense_S282A exm51990 1 43826261 [T/C] NM_001255 CDC20 EXON Missense_S282F rs710251 1 43826312 [A/C] NM_001255 CDC20 Silent variant.2896 1 43826519 [T/C] NM_001255 CDC20 EXON Nonsense_R322X exm52000 1 43826794 [A/G] NM_001255 CDC20 EXON Missense_V361I variant.2898 1 43827984 [T/G] NM_001255 CDC20 Silent exm52012 1 43828736 [A/G] NM_001255 CDC20 EXON Missense_R479Q exm52042 1 43831268 [T/C] NM_001256402,NM_001256399,NM_001256401,NR_046117,NM_022821 ELOVL1,ELOVL1,ELOVL1,ELOVL1,ELOVL1 EXON Silent,Missense_V5M,Missense_V5M,Silent,Missense_V5M exm52044 1 43831295 [A/C] NM_001256402,NM_001256399,NM_001256401,NR_046117,NM_022821 ELOVL1,ELOVL1,ELOVL1,ELOVL1,ELOVL1 Silent,Silent,Silent,Silent,Silent exm52047 1 43850140 [A/G] NM_052877,NM_001001653,NM_201542 MED8,MED8,MED8 EXON Missense_A296V,Silent,Silent exm52051 1 43850183 [A/G] NM_052877,NM_001001653,NM_201542 MED8,MED8,MED8 EXON Missense_R282C,Silent,Silent exm52057 1 43851661 [T/C] NM_052877,NM_001001653,NM_201542 MED8,MED8,MED8 EXON Missense_A244T,Missense_A155T,Missense_A244T exm52059 1 43851729 [T/G] NM_052877,NM_001001653,NM_201542 MED8,MED8,MED8 EXON Missense_Q221P,Missense_Q132P,Missense_Q221P exm52067 1 43852334 [A/G] NM_052877,NM_001001653,NM_201542 MED8,MED8,MED8 EXON Missense_I140T,Missense_I51T,Missense_I140T variant.2903 1 43853174 [T/C] NM_052877,NM_001001653,NM_201542 MED8,MED8,MED8 EXON Missense_M90I,Missense_M1I,Missense_M90I exm52079 1 43854091 [C/G] NM_052877,NM_001001653,NM_201542 MED8,MED8,MED8 EXON Missense_E5D,Silent,Missense_E5D rs839752 1 43855546 [A/G] exm1812185 1 43868957 [T/C] NM_015284 SZT2 EXON Missense_T46I exm52100 1 43870091 [A/G] NM_015284 SZT2 EXON Missense_H123R rs839769 1 43872067 [T/C] NM_015284 SZT2 Silent exm52121 1 43886494 [T/C] NM_015284 SZT2 EXON Missense_P446S exm52143 1 43890811 [A/G] NM_015284 SZT2 EXON Missense_E860K exm52148 1 43891273 [A/T] NM_015284 SZT2 EXON Missense_K925M exm52149 1 43891286 [C/G] NM_015284 SZT2 EXON Missense_D929E exm52151 1 43891291 [T/C] NM_015284 SZT2 EXON Missense_T931M exm52153 1 43891311 [A/G] NM_015284 SZT2 EXON Missense_A938T exm52154 1 43891579 [A/G] NM_015284 SZT2 EXON Missense_K963R exm52169 1 43892785 [A/G] NM_015284 SZT2 EXON Missense_R1066H exm52171 1 43892842 [T/C] NM_015284 SZT2 EXON Missense_T1085I exm52172 1 43892961 [A/G] NM_015284 SZT2 EXON Missense_R1091H exm52175 1 43892987 [T/C] NM_015284 SZT2 EXON Missense_P1100S exm52178 1 43893029 [T/G] NM_015284 SZT2 EXON Missense_G1114W exm52184 1 43893240 [A/G] NM_015284 SZT2 EXON Missense_R1156H variant.2907 1 43893242 [T/C] NM_015284 SZT2 EXON Nonsense_R1157X exm52191 1 43893693 [C/G] NM_015284 SZT2 EXON Missense_P1218A exm1812262 1 43893708 [A/G] NM_015284 SZT2 EXON Missense_A1223T exm1812265 1 43894042 [T/C] NM_015284 SZT2 EXON Missense_W1294R exm52200 1 43894045 [T/G] NM_015284 SZT2 EXON Missense_G1295C exm52201 1 43894055 [A/G] NM_015284 SZT2 EXON Missense_H1298R exm52209 1 43895417 [T/C] NM_015284 SZT2 EXON Missense_R1347C exm52210 1 43895418 [A/G] NM_015284 SZT2 EXON Missense_R1347H exm52212 1 43895462 [G/C] NM_015284 SZT2 EXON Missense_D1362H exm52217 1 43895715 [T/C] NM_015284 SZT2 EXON Missense_R1391C exm52221 1 43895743 [A/T] NM_015284 SZT2 EXON Missense_F1400Y exm52232 1 43896217 [A/G] NM_015284 SZT2 EXON Missense_V1454I exm52243 1 43896413 [A/G] NM_015284 SZT2 EXON Missense_R1519H exm52248 1 43896743 [T/C] NM_015284 SZT2 EXON Missense_S1576L exm52256 1 43897181 [T/C] NM_015284 SZT2 EXON Missense_T1635I exm52264 1 43897496 [A/G] NM_015284 SZT2 EXON Missense_R1676H exm52266 1 43897549 [T/C] NM_015284 SZT2 EXON Missense_R1694C exm52275 1 43898013 [T/C] NM_015284 SZT2 EXON Missense_A1725V exm52276 1 43898040 [A/G] NM_015284 SZT2 EXON Missense_H1734R exm52277 1 43898045 [A/G] NM_015284 SZT2 EXON Missense_E1736K exm52282 1 43898260 [T/C] NM_015284 SZT2 EXON Missense_R1782C exm52285 1 43898403 [T/G] NM_015284 SZT2 EXON Missense_S1788R exm52286 1 43898419 [T/C] NM_015284 SZT2 EXON Missense_R1794W exm52305 1 43900065 [T/C] NM_015284 SZT2 EXON Missense_I1881T exm52311 1 43900872 [A/G] NM_015284 SZT2 EXON Missense_R1912Q rs2842180 1 43901916 [T/C] NM_015284 SZT2 Silent exm52321 1 43902884 [A/C] NM_015284 SZT2 EXON Missense_A1969E exm52325 1 43903318 [G/C] NM_015284 SZT2 EXON Missense_P2058A exm52328 1 43903355 [A/T] NM_015284 SZT2 EXON Missense_Y2070F var_1_43903373 1 43903373 [T/C] NM_015284 SZT2 Silent exm52337 1 43904393 [A/G] NM_015284 SZT2 EXON Missense_V2121M exm52359 1 43905375 [A/G] NM_015284 SZT2 EXON Missense_R2269Q exm52368 1 43906169 [A/G] NM_015284 SZT2 EXON Missense_R2362Q exm52380 1 43907176 [T/C] NM_015284 SZT2 EXON Missense_R2448C exm52383 1 43907225 [T/C] NM_015284 SZT2 EXON Missense_V2464A exm52385 1 43907236 [A/G] NM_015284 SZT2 EXON Missense_V2468I exm52393 1 43907434 [A/G] NM_015284 SZT2 EXON Missense_A2506T exm1812365 1 43908279 [A/G] NM_015284 SZT2 EXON Missense_R2657Q exm52413 1 43908515 [C/G] NM_015284 SZT2 EXON Missense_T2669S exm52415 1 43908593 [A/G] NM_015284 SZT2 EXON Missense_R2695H exm52436 1 43909278 [A/G] NM_015284 SZT2 EXON Missense_R2822H exm52439 1 43909344 [T/C] NM_015284 SZT2 EXON Missense_P2844L exm52444 1 43911579 [A/G] NM_015284 SZT2 EXON Missense_R2890Q exm52445 1 43911587 [A/G] NM_015284 SZT2 EXON Missense_A2893T exm52448 1 43911874 [T/A] NM_015284 SZT2 EXON Missense_Y2924N exm52468 1 43913531 [A/G] NM_015284,NR_046744 SZT2,SZT2-AS1 EXON Missense_Y3094C,Silent exm52480 1 43913908 [T/C] NM_015284,NR_046744 SZT2,SZT2-AS1 EXON Missense_A3184V,Silent exm52482 1 43913968 [A/G] NM_015284,NR_046744 SZT2,SZT2-AS1 EXON Missense_R3204Q,Silent exm52486 1 43914120 [T/C] NM_015284,NR_046744 SZT2,SZT2-AS1 EXON Missense_H3255Y,Silent exm52520 1 43916935 [A/G] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_R295W,Silent,Silent,Missense_R270W exm52521 1 43916939 [A/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_D293E,Silent,Silent,Missense_D268E indel.2925 1 43917074 [I/D] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON exm52524 1 43917083 [T/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_R278Q,Silent,Silent,Missense_R253Q exm52526 1 43917098 [C/G] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_C273S,Silent,Silent,Missense_C248S exm52539 1 43917469 [A/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_M210I,Missense_M185I,Missense_M210I,Missense_M185I var_1_43917504 1 43917504 [A/G] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Nonsense_Q199X,Nonsense_Q174X,Nonsense_Q199X,Nonsense_Q174X exm52544 1 43917518 [A/G] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_A194V,Missense_A169V,Missense_A194V,Missense_A169V exm52557 1 43917895 [C/G] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_A161G,Missense_A136G,Missense_A161G,Missense_A136G exm52566 1 43919066 [T/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Silent,Missense_G101D,Silent,Missense_G101D exm52574 1 43919413 [A/G] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_S18P,Missense_S18P,Missense_S18P,Missense_S18P rs7413861 1 43938801 [A/C] rs2039529 1 43960479 [A/G] rs882464 1 43974764 [T/G] rs11210858 1 43978837 [T/C] rs2842189 1 44007648 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs11580074 1 44024484 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs1065771 1 44035352 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Synonymous_A157A,Synonymous_A157A,Synonymous_A157A,Synonymous_A157A,Synonymous_A157A,Synonymous_A157A exm52606 1 44035417 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_T179M,Missense_T179M,Missense_T179M,Missense_T179M,Missense_T179M,Missense_T179M rs752963 1 44045294 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs10789437 1 44050747 [T/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent exm52630 1 44054530 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_E280K,Missense_E276K,Missense_E270K,Missense_E270K,Missense_E270K,Missense_E270K exm52631 1 44054572 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_V294I,Missense_V290I,Missense_V284I,Missense_V284I,Missense_V284I,Missense_V284I exm2264830 1 44054994 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent exm52641 1 44056756 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_R365C,Missense_R361C,Missense_R355C,Missense_R355C,Missense_R355C,Missense_R355C exm52642 1 44056759 [T/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_A366S,Missense_A362S,Missense_A356S,Missense_A356S,Missense_A356S,Missense_A356S exm52643 1 44056763 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_A367V,Missense_A363V,Missense_A357V,Missense_A357V,Missense_A357V,Missense_A357V exm52651 1 44056889 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_P409L,Missense_P405L,Missense_P399L,Missense_P399L,Missense_P399L,Missense_P399L exm52657 1 44057042 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_Y460C,Missense_Y456C,Missense_Y450C,Missense_Y450C,Missense_Y450C,Missense_Y450C exm52671 1 44057497 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_A526T,Missense_A522T,Missense_A516T,Missense_A516T,Missense_A516T,Missense_A516T exm52673 1 44057543 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_S541L,Missense_S537L,Missense_S531L,Missense_S531L,Missense_S531L,Missense_S531L exm52675 1 44057557 [G/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_P546A,Missense_P542A,Missense_P536A,Missense_P536A,Missense_P536A,Missense_P536A exm52682 1 44058143 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_D572N,Missense_D568N,Missense_D562N,Missense_D562N,Missense_D562N,Missense_D562N exm52690 1 44058233 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_V602I,Missense_V598I,Missense_V592I,Missense_V592I,Missense_V592I,Missense_V592I exm2233428 1 44063613 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_D670N,Silent,Missense_D670N,Silent exm1812668 1 44063670 [T/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_D689Y,Silent,Missense_D689Y,Silent exm52716 1 44064516 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_V657M,Missense_V653M,Missense_V749M,Missense_V647M,Missense_V749M,Missense_V647M exm52718 1 44064534 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_E663K,Missense_E659K,Missense_E755K,Missense_E653K,Missense_E755K,Missense_E653K rs596522 1 44066424 [A/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent exm52745 1 44069425 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_I859V,Silent,Missense_I868V,Silent exm52748 1 44069464 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_G872S,Silent,Missense_G881S,Silent exm52750 1 44069495 [T/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_R882L,Silent,Missense_R891L,Silent exm52758 1 44069636 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_P929L,Silent,Missense_P938L,Silent exm52759 1 44069648 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_A933V,Silent,Missense_A942V,Silent exm52765 1 44069776 [G/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_D976H,Silent,Missense_D985H,Silent exm52766 1 44069810 [A/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_S987Y,Silent,Missense_S996Y,Silent exm52784 1 44071105 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_S842L,Missense_S838L,Missense_S1118L,Missense_S823L,Missense_S1127L,Missense_S832L exm52807 1 44072122 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_M947T,Missense_M943T,Missense_M1223T,Missense_M928T,Missense_M1232T,Missense_M937T rs539096 1 44072420 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent exm52811 1 44072558 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_P974L,Missense_P970L,Missense_P1250L,Missense_P955L,Missense_P1259L,Missense_P964L variant.2941 1 44072641 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent exm52815 1 44075054 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Synonymous_R1005R,Synonymous_R997R,Synonymous_R1277R,Synonymous_R982R,Synonymous_R1286R,Synonymous_R991R rs11210887 1 44076019 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent exm52830 1 44083200 [T/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_A1116S,Missense_A1108S,Missense_A1377S,Missense_A1082S,Missense_A1386S,Missense_A1102S exm1812727 1 44084819 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_R1261Q,Missense_R1253Q,Missense_R1522Q,Missense_R1227Q,Missense_R1531Q,Missense_R1247Q exm2233430 1 44084975 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_T1285A,Missense_T1277A,Missense_T1546A,Missense_T1251A,Missense_T1555A,Missense_T1271A exm52866 1 44085143 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_G1341S,Missense_G1333S,Missense_G1602S,Missense_G1307S,Missense_G1611S,Missense_G1327S exm52867 1 44085167 [T/A] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_N1349Y,Missense_N1341Y,Missense_N1610Y,Missense_N1315Y,Missense_N1619Y,Missense_N1335Y exm52868 1 44085173 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_Y1351H,Missense_Y1343H,Missense_Y1612H,Missense_Y1317H,Missense_Y1621H,Missense_Y1337H exm52869 1 44085194 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_G1358S,Missense_G1350S,Missense_G1619S,Missense_G1324S,Missense_G1628S,Missense_G1344S exm52880 1 44085844 [A/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_H1460Q,Missense_H1452Q,Missense_H1721Q,Missense_H1426Q,Missense_H1730Q,Missense_H1446Q exm52908 1 44087628 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_R1623H,Missense_R1615H,Missense_R1884H,Missense_R1589H,Missense_R1893H,Missense_R1609H rs660899 1 44117006 [T/G] NM_014663 KDM4A Silent exm52919 1 44118920 [A/G] NM_014663 KDM4A EXON Missense_R25Q exm52927 1 44121415 [T/C] NM_014663 KDM4A EXON Missense_R98C rs10789439 1 44123191 [T/C] NM_014663 KDM4A Silent exm52932 1 44125982 [T/C] NM_014663 KDM4A EXON Missense_R110C rs489319 1 44131794 [T/C] NM_014663 KDM4A Silent indel.2942 1 44132130 [D/I] NM_014663 KDM4A EXON exm52959 1 44133567 [T/C] NM_014663 KDM4A EXON Missense_T347M exm52961 1 44133647 [A/G] NM_014663 KDM4A EXON Missense_M374V exm52965 1 44134887 [T/C] NM_014663 KDM4A EXON Missense_M427T rs586339 1 44137257 [A/C] NM_014663 KDM4A EXON Missense_A482E exm52969 1 44137257 [A/C] NM_014663 KDM4A EXON Missense_A482E exm52971 1 44137290 [T/C] NM_014663 KDM4A EXON Missense_A493V exm52974 1 44137315 [C/G] NM_014663 KDM4A EXON Missense_F501L exm52977 1 44137320 [T/G] NM_014663 KDM4A EXON Missense_G503V exm52980 1 44137373 [A/G] NM_014663 KDM4A EXON Missense_I521V exm52988 1 44149406 [T/C] NM_014663 KDM4A EXON Missense_R596C var_1_44149475 1 44149475 [T/G] NM_014663 KDM4A EXON Nonsense_E619X rs6697354 1 44151015 [T/G] NM_014663 KDM4A Silent exm52992 1 44154651 [C/G] NM_014663 KDM4A EXON Missense_S641T exm53007 1 44156702 [A/G] NM_014663 KDM4A EXON Missense_S742G exm53008 1 44156705 [A/G] NM_014663 KDM4A EXON Missense_V743I rs7553982 1 44159431 [T/C] NM_014663 KDM4A Silent variant.2944 1 44160565 [A/G] NM_014663 KDM4A EXON Synonymous_E890E exm53032 1 44169691 [A/G] NM_014663,NR_033827 KDM4A,KDM4A-AS1 EXON Missense_V988M,Silent rs7528454 1 44174081 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm53042 1 44202014 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Silent,Silent,Synonymous_A27A,Synonymous_A27A,Silent,Silent,Silent,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A exm2251787 1 44202014 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Silent,Silent,Synonymous_A27A,Synonymous_A27A,Silent,Silent,Silent,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A exm53045 1 44202061 [C/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Missense_S43T,Missense_S43T,Silent,Silent,Missense_S43T,Silent,Silent,Silent,Silent,Silent,Missense_S43T,Silent,Silent,Silent,Silent,Silent,Missense_S43T,Missense_S43T,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1472661 1 44209075 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16831120 1 44209698 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7546818 1 44245670 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3791051 1 44252908 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent newrs148531289 1 44257821 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11210924 1 44261195 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs975761 1 44264435 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs246776 1 44274699 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm53051 1 44290403 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Synonymous_L85L,Synonymous_L70L,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_L70L,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_L54L,Silent,Silent,Silent,Silent,Silent,Silent rs37458 1 44290530 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Missense_T128A,Missense_T113A,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T113A,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T97A,Silent,Silent,Silent,Silent,Silent,Silent exm53060 1 44290530 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Missense_T128A,Missense_T113A,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T113A,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T97A,Silent,Silent,Silent,Silent,Silent,Silent rs3011225 1 44319373 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2527776 1 44345292 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm53063 1 44360055 [T/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Synonymous_R116R,Synonymous_R170R,Synonymous_R155R,Synonymous_R101R,Synonymous_R116R,Synonymous_R101R,Synonymous_L54L,Silent,Synonymous_R101R,Synonymous_R85R,Synonymous_R100R,Silent,Silent,Synonymous_R155R,Silent,Silent,Synonymous_R116R,Synonymous_R100R,Missense_R8S,Silent,Silent,Synonymous_R85R,Silent,Synonymous_R139R,Synonymous_R85R,Synonymous_R101R,Silent,Synonymous_R85R,Synonymous_L70L,Synonymous_R101R exm53065 1 44360114 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Missense_R136Q,Missense_R190Q,Missense_R175Q,Missense_R121Q,Missense_R136Q,Missense_R121Q,Missense_R74Q,Silent,Missense_R121Q,Missense_R105Q,Missense_R120Q,Silent,Silent,Missense_R175Q,Silent,Silent,Missense_R136Q,Missense_R120Q,Missense_R28Q,Silent,Silent,Missense_R105Q,Silent,Missense_R159Q,Missense_R105Q,Missense_R121Q,Silent,Missense_R105Q,Missense_R90Q,Missense_R121Q exm53069 1 44363909 [T/A] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Missense_N203Y,Missense_N188Y,Missense_N134Y,Missense_N149Y,Silent,Missense_N87Y,Silent,Missense_N134Y,Missense_N118Y,Missense_N133Y,Silent,Silent,Missense_N188Y,Silent,Silent,Missense_N149Y,Missense_N133Y,Missense_N41Y,Silent,Silent,Missense_N118Y,Silent,Missense_N172Y,Missense_N118Y,Missense_N134Y,Silent,Silent,Missense_N103Y,Missense_N134Y exm2251792 1 44365273 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Synonymous_R275R,Synonymous_R260R,Synonymous_R206R,Synonymous_R221R,Silent,Synonymous_R159R,Silent,Synonymous_R206R,Synonymous_R190R,Silent,Silent,Silent,Synonymous_R260R,Silent,Silent,Synonymous_R221R,Silent,Synonymous_R113R,Silent,Silent,Synonymous_R190R,Silent,Synonymous_R244R,Silent,Synonymous_R206R,Silent,Silent,Synonymous_R175R,Synonymous_R206R rs6674176 1 44379957 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm53083 1 44386079 [C/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Missense_A319P,Silent,Silent,Missense_A265P,Silent,Silent,Silent,Missense_A250P,Silent,Silent,Silent,Silent,Missense_A304P,Silent,Silent,Missense_A265P,Silent,Missense_A157P,Silent,Silent,Missense_A234P,Silent,Missense_A288P,Silent,Missense_A250P,Silent,Silent,Missense_A219P,Silent exm53086 1 44386113 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Missense_R330Q,Silent,Silent,Missense_R276Q,Silent,Silent,Silent,Missense_R261Q,Silent,Silent,Silent,Silent,Missense_R315Q,Silent,Silent,Missense_R276Q,Silent,Missense_R168Q,Silent,Silent,Missense_R245Q,Silent,Missense_R299Q,Silent,Missense_R261Q,Silent,Silent,Missense_R230Q,Silent rs3120803 1 44386615 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16831424 1 44387353 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm53109 1 44395835 [A/T] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Missense_R158S,Missense_E426V,Missense_E313V,Missense_E259V,Missense_E372V,Missense_R143S,Missense_E212V,Silent,Missense_E357V,Missense_E243V,Missense_S196C,Silent,Missense_S96C,Missense_E411V,Silent,Silent,Missense_R437S,Silent,Missense_R329S,Silent,Silent,Missense_E341V,Silent,Missense_E395V,Missense_S181C,Missense_R422S,Silent,Missense_R127S,Missense_E326V,Missense_E327V exm53118 1 44401353 [T/C] NM_057091,NM_057090,NM_001136215 ARTN,ARTN,ARTN EXON Missense_S9P,Missense_S9P,Missense_S9P exm53120 1 44401384 [A/G] NM_057091,NM_057090,NM_001136215 ARTN,ARTN,ARTN EXON Missense_Q19R,Missense_Q19R,Missense_Q19R exm2233432 1 44402433 [G/C] NM_057091,NM_057090,NM_001136215 ARTN,ARTN,ARTN EXON Missense_G220A,Missense_G228A,Missense_G228A exm53162 1 44415659 [T/C] NM_014652 IPO13 EXON Missense_R219C exm53165 1 44415735 [A/T] NM_014652 IPO13 EXON Missense_Q244L exm53169 1 44422051 [A/G] NM_014652 IPO13 EXON Missense_R294Q exm53213 1 44426636 [A/G] NM_014652 IPO13 EXON Missense_R733Q exm53239 1 44433119 [C/G] NM_014652 IPO13 EXON Missense_A916P exm53246 1 44435905 [T/C] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Silent,Missense_P20S,Silent,Silent,Silent,Missense_P20S,Silent,Silent,Missense_P20S exm53258 1 44436855 [A/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Silent,Missense_A160T,Missense_A84T,Silent,Silent,Missense_A160T,Missense_M1I,Missense_A84T,Missense_A160T exm53259 1 44437086 [A/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_R36Q,Missense_R171Q,Missense_R95Q,Silent,Silent,Silent,Missense_R23Q,Missense_R95Q,Silent exm53265 1 44437266 [A/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_D96G,Missense_D231G,Missense_D155G,Missense_D38G,Missense_D38G,Silent,Missense_D83G,Missense_D155G,Silent exm53267 1 44437298 [A/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_A107T,Missense_A242T,Missense_A166T,Missense_A49T,Missense_A49T,Silent,Missense_A94T,Missense_A166T,Silent exm53268 1 44437361 [T/C] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_R128W,Missense_R263W,Missense_R187W,Missense_R70W,Missense_R70W,Silent,Missense_R115W,Missense_R187W,Missense_R172W exm1812892 1 44437418 [T/C] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_R147C,Missense_R282C,Missense_R206C,Missense_R89C,Missense_R89C,Silent,Missense_R134C,Missense_R206C,Missense_R191C exm53274 1 44437419 [A/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_R147H,Missense_R282H,Missense_R206H,Missense_R89H,Missense_R89H,Silent,Missense_R134H,Missense_R206H,Missense_R191H exm53283 1 44437629 [A/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_G217D,Missense_G352D,Missense_G276D,Missense_G159D,Missense_G159D,Silent,Missense_G204D,Missense_G276D,Missense_G261D exm53291 1 44437992 [A/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_E309G,Missense_E444G,Missense_E368G,Missense_E251G,Missense_E251G,Missense_E216G,Missense_E296G,Missense_E368G,Missense_E353G exm53293 1 44438087 [T/C] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_A314V,Missense_A449V,Missense_A373V,Missense_A256V,Missense_A256V,Missense_A221V,Missense_A301V,Missense_A373V,Missense_A358V exm53297 1 44438125 [C/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_P327A,Missense_P462A,Missense_P386A,Missense_P269A,Missense_P269A,Missense_P234A,Missense_P314A,Missense_P386A,Missense_P371A exm53302 1 44438171 [A/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_R342Q,Missense_R477Q,Missense_R401Q,Missense_R284Q,Missense_R284Q,Missense_R249Q,Missense_R329Q,Missense_R401Q,Missense_R386Q rs783308 1 44438396 [A/C] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7161 1 44438974 [T/C] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm53325 1 44442857 [C/G] NM_001294333,NM_004047,NM_001039457 ATP6V0B,ATP6V0B,ATP6V0B EXON Missense_G187A,Missense_G187A,Missense_G140A rs3762423 1 44445667 [T/C] NM_003780,NM_030587 B4GALT2,B4GALT2 EXON Silent,Silent exm53338 1 44446937 [T/C] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Synonymous_Y35Y,Synonymous_Y64Y,Synonymous_Y35Y exm53347 1 44447064 [A/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Missense_G78R,Missense_G107R,Missense_G78R exm53353 1 44447413 [C/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Missense_Q122H,Missense_Q151H,Missense_Q122H exm53360 1 44447579 [A/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Missense_V178I,Missense_V207I,Missense_V178I exm53380 1 44451245 [A/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Missense_R307H,Missense_R336H,Missense_R307H indel.2963 1 44456008 [D/I] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON exm53383 1 44456012 [T/C] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Synonymous_D337D,Synonymous_D366D,Synonymous_D337D exm53385 1 44456078 [A/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Synonymous_T359T,Synonymous_T388T,Synonymous_T359T exm53386 1 44456090 [A/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Synonymous_G363G,Synonymous_G392G,Synonymous_G363G exm53404 1 44457957 [T/C] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_P67L,Missense_P67L,Silent,Silent,Missense_P67L exm53420 1 44458286 [T/C] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_F132L,Missense_F132L,Silent,Silent,Missense_F145L exm1812960 1 44458301 [T/G] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_G137C,Missense_G137C,Silent,Missense_G4C,Missense_G150C indel.2975 1 44459613 [D/I] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON exm2233434 1 44461331 [G/C] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_P204R,Missense_P204R,Silent,Missense_P70R,Missense_P216R indel.2976 1 44461470 [D/I] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON indel.2977 1 44461479 [D/I] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON exm53433 1 44461485 [A/C] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_L220M,Missense_L220M,Silent,Missense_L86M,Missense_L232M exm53438 1 44461615 [A/G] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_G235S,Missense_R236Q,Silent,Missense_R102Q,Missense_R248Q exm53441 1 44461662 [T/C] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Synonymous_S250S,Missense_C252R,Silent,Missense_C118R,Missense_C264R exm53443 1 44461726 [A/G] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_E272K,Missense_R273Q,Silent,Missense_R139Q,Missense_R285Q exm53451 1 44461778 [G/C] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_G289A,Missense_R290S,Silent,Missense_R156S,Missense_R302S exm53453 1 44461821 [A/G] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Synonymous_K303K,Missense_A305T,Silent,Missense_A171T,Missense_A317T exm53454 1 44461822 [T/C] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_P304S,Missense_A305V,Silent,Missense_A171V,Missense_A317V exm53465 1 44463309 [T/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_G436S,Missense_G677S,Missense_G493S,Missense_G583S,Missense_G608S,Missense_G604S,Missense_G623S,Missense_G539S,Missense_G604S exm53469 1 44463398 [A/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_A406V,Missense_A647V,Missense_A463V,Missense_A553V,Missense_A578V,Missense_A574V,Missense_A593V,Missense_A509V,Missense_A574V variant.2984 1 44463698 [T/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm53489 1 44466494 [A/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_P383L,Missense_P567L,Missense_P383L,Missense_P473L,Missense_P498L,Missense_P494L,Missense_P513L,Missense_P429L,Missense_P494L exm53502 1 44467117 [A/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_P271L,Missense_P455L,Missense_P271L,Missense_P361L,Missense_P386L,Missense_P382L,Missense_P401L,Missense_P317L,Missense_P382L exm53507 1 44467259 [T/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_V224I,Missense_V408I,Missense_V224I,Missense_V314I,Missense_V339I,Missense_V335I,Missense_V354I,Missense_V270I,Missense_V335I exm2233436 1 44467986 [A/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_R210W,Missense_R394W,Missense_R210W,Missense_R300W,Missense_R325W,Missense_R321W,Missense_R340W,Missense_R256W,Missense_R321W exm53530 1 44474098 [T/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_A62T,Missense_A246T,Missense_A62T,Missense_A152T,Missense_A177T,Missense_A173T,Missense_A192T,Missense_A108T,Missense_A173T exm53534 1 44474143 [T/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_G47S,Missense_G231S,Missense_G47S,Missense_G137S,Missense_G162S,Missense_G158S,Missense_G177S,Missense_G93S,Missense_G158S exm1813004 1 44474217 [T/A] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_Y22F,Missense_Y206F,Missense_Y22F,Missense_Y112F,Missense_Y137F,Missense_Y133F,Missense_Y152F,Missense_Y68F,Missense_Y133F rs1766967 1 44475586 [A/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm53548 1 44477251 [G/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Silent,Missense_H77Q,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm53562 1 44482771 [T/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Silent,Missense_R12H,Silent,Synonymous_S24S,Missense_R12H,Silent,Missense_R12H,Synonymous_S24S,Silent exm53568 1 44482799 [T/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Silent,Missense_G3S,Silent,Missense_R15Q,Missense_G3S,Silent,Missense_G3S,Missense_R15Q,Silent exm2260323 1 44487280 [T/C] NM_001328630,NM_001328626,NM_001024845,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent rs1978195 1 44499242 [A/G] rs16831558 1 44502163 [T/C] rs751442 1 44509551 [A/C] rs6693689 1 44511409 [A/C] rs942756 1 44522274 [T/C] rs12759480 1 44529157 [T/C] rs7519215 1 44532725 [A/G] rs11210949 1 44535401 [T/C] rs2025615 1 44559401 [A/G] rs1291050 1 44571434 [A/G] rs663818 1 44578559 [T/C] rs6682866 1 44578764 [A/C] exm1813276 1 44584638 [A/G] NM_173484 KLF17 EXON Missense_Q20R exm2268678 1 44587512 [T/C] NM_173484 KLF17 Silent exm53580 1 44595047 [A/T] NM_173484 KLF17 EXON Missense_I35N exm53584 1 44595113 [C/G] NM_173484 KLF17 EXON Missense_S57T exm53587 1 44595183 [T/G] NM_173484 KLF17 EXON Missense_Q80H rs6656945 1 44595183 [T/G] NM_173484 KLF17 EXON Missense_Q80H exm53589 1 44595221 [T/C] NM_173484 KLF17 EXON Missense_L93P exm53603 1 44595352 [C/G] NM_173484 KLF17 EXON Missense_E137Q exm1813284 1 44595392 [A/G] NM_173484 KLF17 EXON Missense_N150S exm53608 1 44595399 [G/C] NM_173484 KLF17 EXON Missense_R152S exm53609 1 44595410 [A/G] NM_173484 KLF17 EXON Missense_N156S rs2485652 1 44595410 [A/G] NM_173484 KLF17 EXON Missense_N156S exm53614 1 44595487 [T/C] NM_173484 KLF17 EXON Missense_L182F exm53617 1 44595524 [G/C] NM_173484 KLF17 EXON Missense_P194R exm53621 1 44595622 [T/C] NM_173484 KLF17 EXON Missense_S227P exm2251800 1 44595708 [T/C] NM_173484 KLF17 EXON Synonymous_P255P exm53624 1 44595708 [T/C] NM_173484 KLF17 EXON Synonymous_P255P exm53626 1 44595743 [A/G] NM_173484 KLF17 EXON Missense_R267K exm1813291 1 44595844 [A/G] NM_173484 KLF17 EXON Missense_V301M exm53631 1 44595857 [A/G] NM_173484 KLF17 EXON Missense_R305H exm53635 1 44596297 [T/C] NM_173484 KLF17 EXON Nonsense_Q347X rs2254746 1 44598760 [A/G] NM_173484 KLF17 Silent rs6675129 1 44610760 [A/G] rs11576516 1 44656429 [T/C] rs803371 1 44666345 [T/C] rs11210975 1 44680561 [A/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Synonymous_R128R,Synonymous_R128R,Synonymous_R128R exm53666 1 44683998 [G/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_V137L,Missense_V137L,Missense_V137L exm53677 1 44684309 [A/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_K201T,Missense_K201T,Missense_K201T exm53687 1 44684855 [A/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_R283H,Missense_R283H,Missense_R283H exm53698 1 44685695 [A/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_S353N,Missense_S353N,Missense_S353N exm53700 1 44685725 [T/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_M363T,Missense_M363T,Missense_M363T exm2233440 1 44685747 [C/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_D370E,Missense_D370E,Missense_D370E exm53705 1 44685854 [A/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_G406D,Missense_G406D,Missense_G406D exm53707 1 44685884 [T/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_P416L,Missense_P416L,Missense_P416L exm53709 1 44685886 [A/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_A417T,Missense_A417T,Missense_A417T exm2273646 1 44685913 [T/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_P426S,Missense_P426S,Missense_P426S exm1813324 1 44685926 [T/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_P430L,Missense_P430L,Missense_P430L rs12419 1 44686322 [T/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Silent,Silent,Silent exm2251803 1 44687242 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 EXON Silent,Synonymous_S334S,Synonymous_S256S,Synonymous_S256S,Synonymous_S157S rs17414912 1 44699848 [T/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701,NR_110056 ERI3,ERI3,ERI3,ERI3,ERI3,ERI3-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs11589379 1 44709218 [A/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701,NR_110056,NR_046817 ERI3,ERI3,ERI3,ERI3,ERI3,ERI3-IT1,ERI3-IT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs459358 1 44745624 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent rs6697117 1 44772093 [A/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent rs325145 1 44772626 [T/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent exm2251807 1 44785393 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 EXON Synonymous_L93L,Synonymous_L171L,Synonymous_L93L,Synonymous_L93L,Silent exm53745 1 44804892 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 EXON Missense_H27R,Missense_H105R,Missense_H27R,Missense_H27R,Silent rs4660275 1 44844958 [A/G] rs3915854 1 44858169 [T/C] exm53773 1 44877962 [A/G] NM_001319956,NM_018150 RNF220,RNF220 EXON Missense_G65S,Missense_G65S exm53774 1 44877983 [A/G] NM_001319956,NM_018150 RNF220,RNF220 EXON Missense_M72V,Missense_M72V exm53776 1 44878067 [T/G] NM_001319956,NM_018150 RNF220,RNF220 EXON Missense_A100S,Missense_A100S rs12022308 1 44891488 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs6429540 1 44902285 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs16831963 1 44911632 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs7553056 1 44911812 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs6664827 1 44925508 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs1890948 1 44929865 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs11211006 1 44937974 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs7549585 1 44947616 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs781783 1 44951085 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs7354900 1 44957986 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs781770 1 44974119 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs272531 1 44988433 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs270724 1 44991278 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs782135 1 44994835 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs6672462 1 44997314 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs175222 1 45019240 [T/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs270764 1 45024342 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs10158231 1 45035621 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent exm2260330 1 45047805 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs270709 1 45050047 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent exm2268679 1 45051656 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs928685 1 45053760 [T/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs11582493 1 45063606 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs6704426 1 45067435 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent exm53800 1 45098016 [C/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Missense_T303S,Missense_T303S,Missense_T64S rs2236219 1 45101478 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent exm53813 1 45101717 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Missense_M337V,Missense_M337V,Missense_M124V exm53815 1 45101765 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Missense_F353L,Missense_F353L,Missense_F140L exm53819 1 45110400 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Missense_E386G,Missense_E386G,Missense_E173G exm53823 1 45110683 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Missense_V414I,Missense_V414I,Missense_V201I exm53824 1 45110690 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Missense_P416L,Missense_P416L,Missense_P203L exm53831 1 45110910 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Missense_T443M,Missense_T443M,Missense_T230M rs3768439 1 45113326 [T/A] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs3768438 1 45114459 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent exm2251820 1 45115596 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Synonymous_H532H,Synonymous_H532H,Synonymous_H319H exm53852 1 45120239 [A/G] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 EXON Missense_R245C,Missense_R246C,Missense_R276C,Missense_R203C exm2251822 1 45120405 [A/G] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 EXON Synonymous_D189D,Synonymous_D190D,Synonymous_D220D,Synonymous_D147D exm53873 1 45120542 [T/C] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 EXON Missense_V144M,Missense_V145M,Missense_V175M,Missense_V102M exm53881 1 45120662 [C/G] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 EXON Missense_L104V,Missense_L105V,Missense_L135V,Missense_L62V exm53886 1 45120674 [A/G] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 EXON Missense_R100C,Missense_R101C,Missense_R131C,Missense_R58C exm53890 1 45120722 [T/C] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 EXON Missense_G84S,Missense_G85S,Missense_G115S,Missense_G42S rs3850853 1 45125356 [T/C] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 Silent,Silent,Silent,Silent rs6683133 1 45133561 [A/G] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 Silent,Silent,Silent,Silent rs4660818 1 45139252 [A/C] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 Silent,Silent,Silent,Silent exm53902 1 45140038 [A/G] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 EXON Missense_T9I,Missense_T9I,Missense_T9I,Silent newrs142681287 1 45155551 [A/G] NM_001145636 ARMH1 EXON Missense_R61H exm53909 1 45162818 [C/G] NM_001145636 ARMH1 EXON Missense_G84A newrs185823968 1 45166594 [A/G] NM_001145636 ARMH1 Silent exm53912 1 45166717 [C/G] NM_001145636 ARMH1 EXON Missense_G189R rs12088087 1 45170012 [A/G] NM_001145636 ARMH1 Silent rs10890313 1 45175925 [A/G] NM_001145636 ARMH1 Silent exm53917 1 45189817 [A/G] NM_001145636 ARMH1 EXON Missense_V250I exm53931 1 45205606 [A/T] NM_006845,NM_001297655 KIF2C,KIF2C EXON Missense_M1K,Missense_M1K exm53940 1 45213152 [A/G] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_I88V,Missense_I88V,Missense_I34V,Silent newrs151183655 1 45213158 [A/G] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C Silent,Silent,Silent,Silent variant.3000 1 45223644 [A/G] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C Silent,Silent,Silent,Silent exm53978 1 45224990 [T/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_I446T,Missense_I405T,Missense_I392T,Missense_I333T exm53979 1 45224998 [A/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_I449L,Missense_I408L,Missense_I395L,Missense_I336L exm1814239 1 45225004 [A/G] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_M451V,Missense_M410V,Missense_M397V,Missense_M338V exm53983 1 45225999 [T/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_A472V,Missense_A431V,Missense_A418V,Missense_A359V exm53990 1 45226103 [C/G] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_R507G,Missense_R466G,Missense_R453G,Missense_R394G exm54007 1 45228107 [T/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_A614V,Missense_A573V,Missense_A560V,Missense_A501V exm54009 1 45228236 [T/A] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_E626V,Missense_E585V,Missense_E572V,Missense_E513V exm54013 1 45228274 [A/T] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_T639S,Missense_T598S,Missense_T585S,Missense_T526S rs12746270 1 45228580 [T/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C Silent,Silent,Silent,Silent exm54021 1 45232574 [T/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_A683V,Missense_A642V,Missense_A629V,Missense_A570V exm54024 1 45232619 [A/G] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_R698Q,Missense_R657Q,Missense_R644Q,Missense_R585Q rs11211031 1 45241113 [T/C] exm54100 1 45250841 [A/G] NM_153274 BEST4 EXON Missense_P284L newrs144370787 1 45251349 [A/C] NM_153274 BEST4 Silent variant.3007 1 45251901 [T/C] NM_153274 BEST4 Silent exm54119 1 45252159 [T/C] NM_153274 BEST4 EXON Missense_T153A exm54124 1 45252294 [T/A] NM_153274 BEST4 EXON Missense_C108S exm54130 1 45253101 [A/G] NM_153274 BEST4 EXON Nonsense_Q64X exm54133 1 45253126 [G/C] NM_153274 BEST4 EXON Synonymous_T55T exm54134 1 45253226 [T/C] NM_153274 BEST4 EXON Missense_R51Q exm54135 1 45253227 [T/G] NM_153274 BEST4 EXON Synonymous_R51R rs12057238 1 45258141 [A/C] exm54167 1 45267346 [T/G] NM_004073 PLK3 EXON Missense_R163L exm54169 1 45267393 [T/C] NM_004073 PLK3 EXON Missense_R179C exm54177 1 45268632 [T/C] NM_004073 PLK3 EXON Missense_T252M exm54180 1 45268662 [T/C] NM_004073 PLK3 EXON Missense_T262M exm54187 1 45268781 [T/C] NM_004073 PLK3 EXON Missense_R302C newrs141933667 1 45269063 [A/G] NM_004073 PLK3 EXON Missense_S358G exm54202 1 45269307 [A/G] NM_004073 PLK3 EXON Missense_G370S exm54221 1 45270119 [A/G] NM_004073 PLK3 EXON Missense_R484H exm54228 1 45270383 [T/C] NM_004073 PLK3 EXON Missense_R523W exm2273647 1 45271238 [A/G] NM_004073 PLK3 EXON Missense_R610H exm54238 1 45271250 [T/C] NM_004073 PLK3 EXON Missense_T614I exm54245 1 45271700 [A/G] NM_001013632 TCTEX1D4 EXON Missense_T214M exm54270 1 45272201 [A/G] NM_001013632 TCTEX1D4 EXON Missense_P47L exm54275 1 45274514 [A/G] NM_001136537 BTBD19 EXON Missense_V8M exm54282 1 45276025 [G/C] NM_001136537 BTBD19 EXON Missense_T76S exm54285 1 45276242 [T/C] NM_001136537 BTBD19 EXON Missense_T106I exm54306 1 45288110 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Silent,Missense_G1197R exm54311 1 45288336 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_I1121M,Missense_I1121M exm54315 1 45288818 [G/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_V1094L,Missense_V1094L exm2251832 1 45288983 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Synonymous_T1063T,Synonymous_T1063T exm54324 1 45288988 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_V1062M,Missense_V1062M exm54338 1 45291981 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_V1019M,Missense_V1019M exm54342 1 45292173 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_T988M,Missense_T988M exm54348 1 45292234 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_V968I,Missense_V968I exm54352 1 45292333 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_A935T,Missense_A935T exm54353 1 45292354 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_E928K,Missense_E928K exm54358 1 45292576 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R898H,Missense_R898H exm54360 1 45292591 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_T893M,Missense_T893M rs2295996 1 45292866 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Synonymous_D829D,Synonymous_D829D exm54409 1 45293579 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R665H,Missense_R665H exm54410 1 45293580 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R665C,Missense_R665C exm54414 1 45293709 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_H622Y,Missense_H622Y exm54418 1 45293793 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_A594T,Missense_A594T exm54432 1 45294261 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_V503I,Missense_V503I exm54434 1 45294291 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_E493K,Missense_E493K exm54459 1 45295296 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R358H,Missense_R358H exm54477 1 45296598 [G/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_Q245H,Missense_Q245H exm54484 1 45296711 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R208C,Missense_R208C rs11573562 1 45301735 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 Silent,Silent rs6429550 1 45311749 [A/G] rs6694697 1 45315319 [T/C] rs10159318 1 45322291 [A/G] NM_001261418,NM_020365 EIF2B3,EIF2B3 Silent,Silent exm54519 1 45340342 [A/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Silent,Silent,Missense_S404A newrs113994026 1 45340358 [I/D] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON exm54520 1 45340416 [C/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_C379S,Missense_C379S,Missense_C379S rs263955 1 45340703 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent exm54528 1 45341318 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_S342L,Missense_S342L,Missense_S342L exm54529 1 45341360 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_K328R,Missense_K328R,Missense_K328R var_1_45345595 1 45345595 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Nonsense_W290X,Nonsense_W290X,Nonsense_W290X exm54537 1 45345632 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_Y278C,Missense_Y278C,Missense_Y278C var_1_45347394 1 45347394 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_R225Q,Missense_R225Q,Missense_R225Q rs263975 1 45358527 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent exm2251836 1 45363092 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Synonymous_T197T,Synonymous_T197T,Synonymous_T197T rs1572379 1 45369086 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent exm54550 1 45392402 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_R155H,Missense_R155H,Missense_R155H rs17390824 1 45400827 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent exm54556 1 45407190 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_K148E,Missense_K148E,Missense_K148E exm2233455 1 45407193 [G/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_G147R,Missense_G147R,Missense_G147R rs12407565 1 45416900 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent rs452989 1 45417184 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent rs17390983 1 45432392 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent var_1_45444021 1 45444021 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_A87V,Missense_A87V,Missense_A87V exm54569 1 45444057 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_I75T,Missense_I75T,Missense_I75T rs264025 1 45444996 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent exm54573 1 45446707 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_R45H,Missense_R45H,Missense_R45H exm54576 1 45446797 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_R15Q,Missense_R15Q,Missense_R15Q exm2233456 1 45446819 [A/T] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_M8L,Missense_M8L,Missense_M8L rs4399199 1 45457278 [T/C] exm2264831 1 45460832 [A/G] rs6666806 1 45466927 [A/C] exm54587 1 45469240 [A/G] NM_024602 HECTD3 EXON Missense_V837A exm54598 1 45469567 [A/G] NM_024602 HECTD3 EXON Missense_R797C exm54602 1 45469777 [A/C] NM_024602 HECTD3 EXON Missense_S768A exm54606 1 45470003 [A/G] NM_024602 HECTD3 EXON Missense_V730A exm54624 1 45471784 [T/C] NM_024602 HECTD3 EXON Missense_N577S rs7541207 1 45474008 [T/C] NM_024602 HECTD3 Silent exm54659 1 45474828 [T/C] NM_024602 HECTD3 EXON Missense_V354M exm54682 1 45475886 [T/C] NM_024602 HECTD3 EXON Missense_V204I exm54684 1 45475906 [A/G] NM_024602 HECTD3 EXON Missense_A197V exm54692 1 45476368 [C/G] NM_024602 HECTD3 EXON Missense_A127G rs3806405 1 45476489 [A/G] NM_024602 HECTD3 Silent exm54694 1 45476563 [T/C] NM_024602 HECTD3 EXON Missense_K123E variant.3034 1 45477940 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_M1I,Silent exm1814818 1 45478832 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_Q53R,Silent variant.3037 1 45478988 [T/G] NM_000374,NR_036510 UROD,UROD EXON Missense_A80S,Silent exm54716 1 45479293 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_P102S,Silent exm54718 1 45479353 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_R122W,Silent exm54719 1 45479354 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_R122Q,Silent exm54720 1 45479372 [A/C] NM_000374,NR_036510 UROD,UROD EXON Missense_A128D,Silent exm54721 1 45479379 [T/G] NM_000374,NR_036510 UROD,UROD EXON Missense_E130D,Silent exm54722 1 45479431 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_R148C,Silent newrs150702733 1 45479585 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_T160I,Silent exm2251840 1 45479709 [A/G] NM_000374,NR_036510 UROD,UROD EXON Synonymous_P201P,Silent indel.3040 1 45479743 [I/D] NM_000374,NR_036510 UROD,UROD exm54742 1 45480219 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_R249W,Silent exm54744 1 45480232 [T/A] NM_000374,NR_036510 UROD,UROD EXON Missense_L253Q,Silent exm54753 1 45481018 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_G318R,Silent exm54777 1 45484448 [T/C] NM_020883 ZSWIM5 EXON Missense_R1079Q exm54798 1 45500046 [A/G] NM_020883 ZSWIM5 EXON Missense_T796M exm54801 1 45500083 [T/C] NM_020883 ZSWIM5 EXON Missense_V784M exm54803 1 45500107 [T/C] NM_020883 ZSWIM5 EXON Missense_D776N exm2233462 1 45501415 [A/C] NM_020883 ZSWIM5 EXON Missense_A746S exm54805 1 45501746 [T/G] NM_020883 ZSWIM5 EXON Missense_Q707P exm54810 1 45501806 [A/C] NM_020883 ZSWIM5 EXON Missense_R687L exm2233463 1 45501938 [T/C] NM_020883 ZSWIM5 EXON Missense_H643R exm54820 1 45501951 [A/G] NM_020883 ZSWIM5 EXON Missense_P639S exm1814910 1 45501963 [T/C] NM_020883 ZSWIM5 EXON Missense_E635K exm54823 1 45504640 [T/C] NM_020883 ZSWIM5 EXON Missense_R621H variant.3050 1 45508984 [A/G] NM_020883 ZSWIM5 EXON Nonsense_R506X exm54838 1 45509001 [T/C] NM_020883 ZSWIM5 EXON Missense_Q500R variant.3051 1 45509047 [A/G] NM_020883 ZSWIM5 EXON Nonsense_R485X exm54846 1 45524311 [T/C] NM_020883 ZSWIM5 EXON Missense_D408N exm54851 1 45524416 [A/G] NM_020883 ZSWIM5 EXON Missense_R373W variant.3053 1 45525920 [A/C] NM_020883 ZSWIM5 Silent rs16832411 1 45529693 [A/G] NM_020883 ZSWIM5 Silent exm54865 1 45553637 [T/C] NM_020883 ZSWIM5 EXON Missense_A290T exm54870 1 45553712 [A/G] NM_020883 ZSWIM5 EXON Missense_R265C exm54871 1 45553735 [T/C] NM_020883 ZSWIM5 EXON Missense_R257H rs12063926 1 45596831 [A/C] NM_020883 ZSWIM5 Silent rs1226747 1 45640116 [G/C] NM_020883 ZSWIM5 Silent rs3009969 1 45645069 [T/C] NM_020883 ZSWIM5 Silent exm54885 1 45671736 [T/C] NM_020883 ZSWIM5 EXON Missense_R96H exm54887 1 45671808 [A/G] NM_020883 ZSWIM5 EXON Missense_T72M rs11211086 1 45710771 [T/G] rs3121730 1 45716285 [T/G] rs11211091 1 45757124 [T/C] rs4233496 1 45763650 [A/C] exm2265004 1 45788479 [A/G] rs12026893 1 45788479 [A/G] exm54934 1 45793689 [A/G] NM_032756 HPDL EXON Missense_Q290R exm1815439 1 45793724 [T/C] NM_032756 HPDL EXON Missense_H302Y exm54938 1 45793745 [C/G] NM_032756 HPDL EXON Missense_R309G exm54941 1 45793780 [G/C] NM_032756 HPDL EXON Missense_K320N exm54942 1 45793833 [T/C] NM_032756 HPDL EXON Missense_L338P exm54952 1 45795027 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R414Q,Missense_R414Q,Silent,Missense_R506Q,Missense_R517Q,Missense_R521Q,Missense_R534Q,Missense_R506Q,Missense_R507Q,Missense_R520Q,Missense_R531Q,Missense_R391Q,Missense_R506Q,Missense_R391Q exm54953 1 45795040 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_D410Y,Missense_D410Y,Silent,Missense_D502Y,Missense_D513Y,Missense_D517Y,Missense_D530Y,Missense_D502Y,Missense_D503Y,Missense_D516Y,Missense_D527Y,Missense_D387Y,Missense_D502Y,Missense_D387Y exm54959 1 45795084 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_S395F,Missense_S395F,Silent,Missense_S487F,Missense_S498F,Missense_S502F,Missense_S515F,Missense_S487F,Missense_S488F,Missense_S501F,Missense_S512F,Missense_S372F,Missense_S487F,Missense_S372F exm54967 1 45796852 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent newrs121908381 1 45796892 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_E360X,Nonsense_E360X,Silent,Nonsense_E452X,Nonsense_E463X,Nonsense_E467X,Nonsense_E480X,Nonsense_E452X,Nonsense_E453X,Nonsense_E466X,Nonsense_E477X,Nonsense_E337X,Nonsense_E452X,Nonsense_E337X exm1815462 1 45796912 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A353D,Missense_A353D,Silent,Missense_A445D,Missense_A456D,Missense_A460D,Missense_A473D,Missense_A445D,Missense_A446D,Missense_A459D,Missense_A470D,Missense_A330D,Missense_A445D,Missense_A330D variant.3062 1 45796969 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_Q334P,Missense_Q334P,Silent,Missense_Q426P,Missense_Q437P,Missense_Q441P,Missense_Q454P,Missense_Q426P,Missense_Q427P,Missense_Q440P,Missense_Q451P,Missense_Q311P,Missense_Q426P,Missense_Q311P variant.3063 1 45797092 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_E321E,Synonymous_E321E,Silent,Synonymous_E413E,Synonymous_E424E,Synonymous_E428E,Synonymous_E441E,Synonymous_E413E,Synonymous_E414E,Synonymous_E427E,Synonymous_E438E,Synonymous_E298E,Synonymous_E413E,Synonymous_E298E exm54981 1 45797139 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R306C,Missense_R306C,Silent,Missense_R398C,Missense_R409C,Missense_R413C,Missense_R426C,Missense_R398C,Missense_R399C,Missense_R412C,Missense_R423C,Missense_R283C,Missense_R398C,Missense_R283C exm54983 1 45797157 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_L300M,Missense_L300M,Silent,Missense_L392M,Missense_L403M,Missense_L407M,Missense_L420M,Missense_L392M,Missense_L393M,Missense_L406M,Missense_L417M,Missense_L277M,Missense_L392M,Missense_L277M exm54989 1 45797228 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_G276D,Missense_G276D,Silent,Missense_G368D,Missense_G379D,Missense_G383D,Missense_G396D,Missense_G368D,Missense_G369D,Missense_G382D,Missense_G393D,Missense_G253D,Missense_G368D,Missense_G253D exm2233468 1 45797401 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A253V,Missense_A253V,Silent,Missense_A345V,Missense_A356V,Missense_A360V,Missense_A373V,Missense_A345V,Missense_A346V,Missense_A359V,Missense_A370V,Missense_A230V,Missense_A345V,Missense_A230V exm54991 1 45797429 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R244C,Missense_R244C,Silent,Missense_R336C,Missense_R347C,Missense_R351C,Missense_R364C,Missense_R336C,Missense_R337C,Missense_R350C,Missense_R361C,Missense_R221C,Missense_R336C,Missense_R221C exm54997 1 45797506 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_Q218R,Missense_Q218R,Silent,Missense_Q310R,Missense_Q321R,Missense_Q325R,Missense_Q338R,Missense_Q310R,Missense_Q311R,Missense_Q324R,Missense_Q335R,Missense_Q195R,Missense_Q310R,Missense_Q195R exm1815471 1 45797760 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm55002 1 45797839 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R191K,Missense_R191K,Silent,Missense_R283K,Missense_R294K,Missense_R298K,Missense_R311K,Missense_R283K,Missense_R284K,Missense_R297K,Missense_R308K,Missense_R168K,Missense_R283K,Missense_R168K exm55003 1 45797846 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R189C,Missense_R189C,Silent,Missense_R281C,Missense_R292C,Missense_R296C,Missense_R309C,Missense_R281C,Missense_R282C,Missense_R295C,Missense_R306C,Missense_R166C,Missense_R281C,Missense_R166C exm55014 1 45798117 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R125H,Missense_R125H,Silent,Missense_R217H,Missense_R228H,Missense_R232H,Missense_R245H,Missense_R217H,Missense_R218H,Missense_R231H,Missense_R242H,Missense_R102H,Missense_R217H,Missense_R102H exm55024 1 45798269 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_I103V,Missense_I103V,Silent,Missense_I195V,Missense_I206V,Missense_I210V,Missense_I223V,Missense_I195V,Missense_I196V,Missense_I209V,Missense_I220V,Missense_I80V,Missense_I195V,Missense_I80V exm55031 1 45798475 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_Y59C,Missense_Y59C,Silent,Missense_Y151C,Missense_Y162C,Missense_Y166C,Missense_Y179C,Missense_Y151C,Missense_Y152C,Missense_Y165C,Missense_Y176C,Missense_Y36C,Missense_Y151C,Missense_Y36C rs3219487 1 45798555 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.3086 1 45798627 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_W36X,Nonsense_W36X,Silent,Nonsense_W128X,Nonsense_W139X,Nonsense_W143X,Nonsense_W156X,Nonsense_W128X,Nonsense_W129X,Nonsense_W142X,Nonsense_W153X,Nonsense_W13X,Nonsense_W128X,Nonsense_W13X exm1815490 1 45800146 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_G11D,Missense_G11D,Missense_G25D,Missense_G25D,Missense_G11D,Missense_G11D,Missense_G25D,Missense_G25D,Silent,Missense_G11D,Silent exm55053 1 45800156 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_V8M,Missense_V8M,Missense_V22M,Missense_V22M,Missense_V8M,Missense_V8M,Missense_V22M,Missense_V22M,Silent,Missense_V8M,Silent exm1815492 1 45800167 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_P4L,Missense_P4L,Missense_P18L,Missense_P18L,Missense_P4L,Missense_P4L,Missense_P18L,Missense_P18L,Silent,Missense_P4L,Silent rs3219472 1 45804050 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm55063 1 45806750 [G/C] NM_025077 TOE1 EXON Missense_V20L exm55064 1 45806765 [A/T] NM_025077 TOE1 EXON Missense_T25S exm55065 1 45806768 [T/G] NM_025077 TOE1 EXON Missense_S26A exm55068 1 45806798 [A/G] NM_025077 TOE1 EXON Missense_V36I exm55079 1 45807150 [T/C] NM_025077 TOE1 EXON Missense_I81T exm55083 1 45807631 [T/C] NM_025077 TOE1 EXON Missense_S115F var_1_45807784 1 45807784 [A/G] NM_025077 TOE1 Silent indel.3100 1 45808276 [I/D] NM_025077 TOE1 EXON exm55095 1 45808538 [A/G] NM_025077 TOE1 EXON Missense_R259Q exm55114 1 45808937 [T/C] NM_025077 TOE1 EXON Missense_P366S exm55117 1 45808982 [A/G] NM_025077 TOE1 EXON Missense_E381K exm55120 1 45809001 [A/G] NM_025077 TOE1 EXON Missense_D387G exm55122 1 45809028 [A/G] NM_025077 TOE1 EXON Missense_K396R indel.3101 1 45809109 [I/D] NM_025077 TOE1 EXON exm55128 1 45809220 [T/C] NM_025077 TOE1 EXON Missense_P460L exm55133 1 45810531 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_Q483R,Missense_Q566R exm55142 1 45810730 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R417W,Missense_R500W exm55145 1 45810774 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R402H,Missense_R485H exm55147 1 45810808 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R391W,Missense_R474W exm55149 1 45810865 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R372C,Missense_R455C exm55166 1 45811065 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R305Q,Missense_R388Q exm55168 1 45811096 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R295C,Missense_R378C exm55169 1 45811107 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R291H,Missense_R374H exm2233471 1 45811119 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_D287G,Missense_D370G exm55176 1 45811563 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_Q245R,Missense_Q328R exm55178 1 45811603 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R232C,Missense_R315C exm55180 1 45811663 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_D212N,Missense_D295N variant.3105 1 45812365 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Synonymous_N210N,Synonymous_N293N exm55182 1 45812445 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_G184R,Missense_G267R exm55184 1 45812691 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_A168V,Missense_A251V exm55193 1 45813651 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_E105K,Missense_E188K exm55194 1 45813656 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R103K,Missense_R186K rs9429076 1 45819489 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs7519633 1 45821478 [A/G] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent exm55203 1 45851627 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_M34T,Missense_M117T rs781226 1 45872662 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs6657284 1 45879088 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs11808204 1 45880074 [A/G] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent exm2275323 1 45887509 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Silent,Nonsense_R78X rs12139364 1 45890155 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs10493120 1 45903488 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs1006216 1 45909994 [A/G] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs1007860 1 45911727 [T/G] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent exm55222 1 45923364 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Silent,Missense_V32M exm55223 1 45923396 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Silent,Missense_E21G exm55226 1 45923415 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Silent,Missense_R15C rs4660863 1 45955868 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent indel.3111 1 45962969 [D/I] NR_033297,NM_001102601,NR_033298,NR_152411,NM_001358407,NR_152413,NR_152412,NM_001358406,NR_152414 CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163 newrs72898310 1 45962983 [A/G] NR_033297,NM_001102601,NR_033298,NR_152411,NM_001358407,NR_152413,NR_152412,NM_001358406,NR_152414 CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163 EXON Silent,Nonsense_Q84X,Silent,Silent,Nonsense_Q84X,Silent,Silent,Nonsense_Q84X,Silent indel.3113 1 45965247 [I/D] NR_033297,NM_001102601,NR_033298,NR_152411,NM_001358407,NR_152413,NR_152412,NM_001358406,NR_152414 CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163 EXON exm55246 1 45966012 [G/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Silent,Missense_P3R exm55252 1 45966071 [T/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Silent,Missense_V23F variant.3115 1 45966084 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Silent,Missense_Q27R exm55255 1 45973124 [C/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_D3H,Missense_D60H exm55256 1 45973127 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_R4W,Missense_R61W exm55257 1 45973128 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_R4Q,Missense_R61Q exm55264 1 45973923 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_E49K,Missense_E106K exm55266 1 45973939 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_R54Q,Missense_R111Q exm2233473 1 45973941 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_R55C,Missense_R112C exm55272 1 45974478 [G/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_G90A,Missense_G147A exm55273 1 45974510 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_F101L,Missense_F158L exm55284 1 45974688 [T/A] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_E160V,Missense_E217V exm2273648 1 45974721 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_A171V,Missense_A228V exm55301 1 45974849 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_S214G,Missense_S271G exm55303 1 45974886 [G/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_X226S,Missense_X283S rs882803 1 45976147 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Silent,Silent var_1_45977087 1 45977087 [A/C] NM_181697,NM_181696,NM_001202431,NM_002574 PRDX1,PRDX1,PRDX1,PRDX1 Silent,Silent,Silent,Silent exm55325 1 45981416 [A/G] NM_181697,NM_181696,NM_001202431,NM_002574 PRDX1,PRDX1,PRDX1,PRDX1 EXON Missense_I57T,Missense_I57T,Missense_I57T,Missense_I57T rs6699702 1 45981834 [T/C] NM_181697,NM_181696,NM_001202431,NM_002574 PRDX1,PRDX1,PRDX1,PRDX1 Silent,Silent,Silent,Silent indel.3133 1 45984619 [I/D] NM_181697,NM_181696,NM_001202431,NM_002574 PRDX1,PRDX1,PRDX1,PRDX1 EXON newrs142967305 1 45984662 [T/G] NM_181697,NM_181696,NM_001202431,NM_002574 PRDX1,PRDX1,PRDX1,PRDX1 EXON Synonymous_T18T,Synonymous_T18T,Synonymous_T18T,Synonymous_T18T rs512026 1 46009946 [T/G] rs666720 1 46020795 [T/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 Silent,Silent,Silent,Silent exm55337 1 46027477 [T/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_S4F,Missense_S4F,Missense_S4F,Missense_S4F variant.3135 1 46032240 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 Silent,Silent,Silent,Silent var_1_46032295 1 46032296 [D/I] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON exm55343 1 46032307 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_G51S,Missense_G51S,Missense_G51S,Missense_G51S exm55344 1 46032311 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_N52S,Missense_N52S,Missense_N52S,Missense_N52S newrs150476930 1 46032360 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Synonymous_K68K,Synonymous_K68K,Synonymous_K68K,Synonymous_K68K newrs181804004 1 46032365 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 Silent,Silent,Silent,Silent exm55365 1 46033748 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_V151M,Missense_V151M,Missense_V151M,Missense_V151M exm55370 1 46034263 [T/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_W220L,Missense_W220L,Missense_W220L,Missense_W220L exm2233477 1 46034272 [G/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_P223R,Missense_P223R,Missense_P223R,Missense_P223R exm55371 1 46034301 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_V233I,Missense_V233I,Missense_V233I,Missense_V233I exm55372 1 46034329 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_G242D,Missense_G242D,Missense_G242D,Missense_G242D variant.3144 1 46034651 [T/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Nonsense_R269X,Nonsense_R269X,Nonsense_R269X,Nonsense_R269X exm55377 1 46034652 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_R269Q,Missense_R269Q,Missense_R269Q,Missense_R269Q variant.3145 1 46034842 [T/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Nonsense_E285X,Nonsense_E285X,Nonsense_E285X,Nonsense_E285X exm55380 1 46034879 [T/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_R297I,Missense_R297I,Missense_R297I,Missense_R297I exm1816003 1 46034894 [T/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_M302R,Missense_M302R,Missense_M302R,Missense_M302R exm55385 1 46035599 [T/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_P317S,Missense_P317S,Missense_P317S,Missense_P317S exm55390 1 46035621 [T/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_P324L,Missense_P324L,Missense_P324L,Missense_P324L rs518216 1 46037357 [T/C] rs2934857 1 46039612 [A/G] exm55392 1 46049849 [G/C] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_V11L,Missense_V11L,Missense_V11L variant.3146 1 46056893 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP Silent,Silent,Silent exm55396 1 46056939 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_E35G,Missense_E35G,Missense_E35G indel.3147 1 46067948 [D/I] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON exm55429 1 46073361 [T/C] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Silent,Nonsense_Q260X,Nonsense_Q196X exm55430 1 46073362 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Silent,Missense_Q260R,Missense_Q196R exm55436 1 46073451 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Silent,Missense_G290S,Missense_G226S exm1816065 1 46073517 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Silent,Missense_D312N,Missense_D248N variant.3149 1 46073577 [T/C] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Silent,Nonsense_Q332X,Nonsense_Q268X exm55462 1 46079969 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_E194K,Missense_E533K,Missense_E469K exm55468 1 46080844 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_K270R,Missense_K609R,Missense_K545R exm55469 1 46080849 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_I272V,Missense_I611V,Missense_I547V exm55473 1 46080988 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_E284K,Missense_E623K,Missense_E559K exm55481 1 46082061 [C/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_S353C,Missense_S692C,Missense_S628C exm55486 1 46082322 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_G363S,Missense_G702S,Missense_G638S exm55493 1 46083166 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_D391G,Missense_D730G,Missense_D666G exm55498 1 46083226 [T/C] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_P411L,Missense_P750L,Missense_P686L indel.3152 1 46085956 [I/D] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON rs11590549 1 46086329 [T/C] NM_001114938,NM_001190182 CCDC17,CCDC17 Silent,Silent exm55517 1 46086436 [T/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_I557V,Missense_I548V indel.3153 1 46086466 [I/D] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON exm55518 1 46086469 [A/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_A546S,Missense_A537S exm55527 1 46086649 [A/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_R509C,Missense_R500C newrs143908062 1 46086738 [T/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Nonsense_W479X,Nonsense_W470X exm55532 1 46086766 [T/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_V470I,Missense_V461I exm55536 1 46087002 [A/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_G447W,Missense_G438W indel.3158 1 46087134 [D/I] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON exm55539 1 46087313 [C/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_P394R,Missense_P385R exm55551 1 46088002 [A/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_S293L,Missense_S284L exm55565 1 46088475 [C/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_L230V,Missense_L221V exm55567 1 46088663 [A/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_L207W,Missense_L198W exm55573 1 46089315 [A/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Nonsense_Q62X,Nonsense_Q62X exm55582 1 46094034 [T/C] NM_021639 GPBP1L1 EXON Missense_S440N exm55583 1 46094037 [T/C] NM_021639 GPBP1L1 EXON Missense_R439H exm55591 1 46095294 [A/G] NM_021639 GPBP1L1 EXON Missense_P409L newrs141022457 1 46099160 [T/C] NM_021639 GPBP1L1 Silent exm55601 1 46099220 [A/G] NM_021639 GPBP1L1 EXON Synonymous_L329L exm55605 1 46099788 [A/C] NM_021639 GPBP1L1 EXON Missense_A289S exm55606 1 46099793 [T/C] NM_021639 GPBP1L1 EXON Missense_G287D exm55607 1 46099794 [T/C] NM_021639 GPBP1L1 EXON Missense_G287S rs4431884 1 46101323 [T/C] NM_021639 GPBP1L1 Silent exm55616 1 46106052 [A/G] NM_021639 GPBP1L1 EXON Missense_P192S exm55617 1 46106069 [A/G] NM_021639 GPBP1L1 EXON Missense_P186L exm55627 1 46120308 [T/A] NM_021639 GPBP1L1 EXON Missense_K128N exm55628 1 46120313 [A/G] NM_021639 GPBP1L1 EXON Missense_R127W indel.3165 1 46120884 [I/D] NM_021639 GPBP1L1 EXON exm55642 1 46120885 [T/C] NM_021639 GPBP1L1 EXON Missense_N56S exm55643 1 46120890 [T/A] NM_021639 GPBP1L1 EXON Missense_F54L rs3811436 1 46125880 [T/C] NM_021639 GPBP1L1 EXON Silent rs3013595 1 46153203 [A/G] exm55656 1 46156748 [A/G] NM_016486 TMEM69 EXON Missense_R3H indel.3166 1 46156768 [D/I] NM_016486 TMEM69 EXON variant.3167 1 46156782 [A/G] NM_016486 TMEM69 EXON Synonymous_K14K indel.3168 1 46158965 [I/D] NM_016486 TMEM69 EXON variant.3169 1 46158979 [A/G] NM_016486 TMEM69 EXON Nonsense_W49X exm55664 1 46158981 [T/C] NM_016486 TMEM69 EXON Missense_L50F indel.3170 1 46159032 [I/D] NM_016486 TMEM69 EXON exm55672 1 46159158 [A/G] NM_016486 TMEM69 EXON Missense_V109I exm55676 1 46159201 [T/C] NM_016486 TMEM69 EXON Missense_P123L 1KG_1_46159242 1 46159242 [I/D] NM_016486 TMEM69 EXON exm55685 1 46159395 [A/G] NM_016486 TMEM69 EXON Missense_T188A exm55687 1 46160124 [T/C] NM_001145349 IPP EXON Missense_H572R indel.3172 1 46160137 [I/D] NM_001145349 IPP EXON exm55688 1 46160173 [T/C] NM_001145349 IPP EXON Missense_E556K variant.3173 1 46165737 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Silent,Synonymous_T552T exm55693 1 46165780 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Missense_S538F,Missense_S538F exm55699 1 46179997 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_N484S,Missense_N484S exm55706 1 46182597 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Missense_R427C,Missense_R427C indel.3175 1 46195352 [I/D] NM_001145349,NM_005897 IPP,IPP EXON exm55722 1 46195375 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_K264R,Missense_K264R exm55724 1 46195420 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_R249H,Missense_R249H exm55725 1 46195433 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_D245N,Missense_D245N rs28433203 1 46196813 [T/G] NM_001145349,NM_005897 IPP,IPP Silent,Silent exm55730 1 46206577 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_I240M,Missense_I240M exm55734 1 46206636 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_E221K,Missense_E221K variant.3177 1 46206702 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Nonsense_Q199X,Nonsense_Q199X exm55746 1 46206878 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Missense_I140T,Missense_I140T exm55750 1 46206992 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Missense_I102T,Missense_I102T exm2251866 1 46212000 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Synonymous_N28N,Synonymous_N28N rs11211177 1 46226349 [A/G] kgp3664518 1 46228391 [A/G] rs4660314 1 46229885 [T/C] exm2268680 1 46287869 [T/C] NM_001324320,NM_015112,NM_001319245 MAST2,MAST2,MAST2 Silent,Silent,Silent variant.3180 1 46290189 [T/C] NM_001324320,NM_015112,NM_001319245 MAST2,MAST2,MAST2 EXON Nonsense_Q88X,Nonsense_Q88X,Nonsense_Q88X var_1_46290257 1 46290257 [A/G] NM_001324320,NM_015112,NM_001319245 MAST2,MAST2,MAST2 Silent,Silent,Silent exm55782 1 46295147 [C/G] NM_001324320,NM_015112,NM_001319245 MAST2,MAST2,MAST2 EXON Missense_S121T,Missense_S121T,Missense_S121T indel.3182 1 46348034 [I/D] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 variant.3183 1 46383207 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs11211230 1 46406767 [T/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs11211232 1 46411146 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent exm55791 1 46425062 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R169W,Missense_R169W,Missense_R169W,Missense_R8W rs4420029 1 46425500 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs4660905 1 46461587 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent variant.3184 1 46468560 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent exm1817007 1 46474001 [A/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_E319D,Missense_E312D,Missense_E312D,Missense_E158D exm55806 1 46476447 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_N349D,Missense_N342D,Missense_N342D,Missense_N188D rs11211247 1 46476587 [T/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_D395E,Missense_D388E,Missense_D388E,Missense_D234E exm55812 1 46476587 [T/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_D395E,Missense_D388E,Missense_D388E,Missense_D234E exm55823 1 46487710 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R467H,Missense_R460H,Missense_R460H,Missense_R306H exm55831 1 46488914 [G/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_A506P,Missense_A499P,Missense_A499P,Missense_A345P exm55842 1 46489482 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R544H,Missense_R537H,Missense_R537H,Missense_R383H exm55861 1 46493460 [T/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_I666M,Missense_I659M,Missense_I659M,Missense_I505M exm55868 1 46495139 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Synonymous_D747D,Synonymous_D740D,Synonymous_D740D,Synonymous_D586D exm55870 1 46495155 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_E753K,Missense_E746K,Missense_E746K,Missense_E592K variant.3188 1 46495630 [T/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent exm55877 1 46495813 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R826Q,Missense_R819Q,Missense_R819Q,Missense_R665Q exm55886 1 46496298 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R865Q,Missense_R858Q,Missense_R858Q,Missense_R704Q exm55906 1 46496777 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_A943V,Missense_A936V,Missense_A936V,Missense_A782V exm55918 1 46496942 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R998Q,Missense_R991Q,Missense_R991Q,Missense_R837Q exm55939 1 46498018 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R1126Q,Missense_R1119Q,Missense_R1119Q,Missense_R965Q exm55940 1 46498071 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_V1144M,Missense_V1137M,Missense_V1137M,Missense_V983M exm55943 1 46498287 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_P1152L,Missense_P1145L,Missense_P1145L,Missense_P991L rs1622208 1 46498375 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Synonymous_V1181V,Synonymous_V1174V,Synonymous_V1174V,Synonymous_V1020V exm2251876 1 46498375 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Synonymous_V1181V,Synonymous_V1174V,Synonymous_V1174V,Synonymous_V1020V exm55949 1 46499526 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_K1204R,Missense_K1197R,Missense_K1197R,Missense_K1043R exm1817147 1 46499588 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R1225C,Missense_R1218C,Missense_R1218C,Missense_R1064C exm55957 1 46499771 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_K1241R,Missense_K1234R,Missense_K1233R,Missense_K1080R exm55958 1 46499795 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_L1249P,Missense_L1242P,Missense_L1241P,Missense_L1088P exm55966 1 46500251 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_V1311M,Missense_V1304M,Missense_V1303M,Missense_V1150M exm1817154 1 46500332 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R1338C,Missense_R1331C,Missense_R1330C,Missense_R1177C exm55970 1 46500345 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R1342H,Missense_R1335H,Missense_R1334H,Missense_R1181H exm55983 1 46500579 [G/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_A1420G,Missense_A1413G,Missense_A1412G,Missense_A1259G exm55994 1 46500780 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_T1487I,Missense_T1480I,Missense_T1479I,Missense_T1326I exm56001 1 46500915 [G/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_P1532R,Missense_P1525R,Missense_P1524R,Missense_P1371R exm56005 1 46500993 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_D1558G,Missense_D1551G,Missense_D1550G,Missense_D1397G exm1817186 1 46501287 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_T1656I,Missense_T1649I,Missense_T1648I,Missense_T1495I exm56016 1 46501359 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_K1680R,Missense_K1673R,Missense_K1672R,Missense_K1519R exm1817188 1 46501386 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_N1689S,Missense_N1682S,Missense_N1681S,Missense_N1528S exm56028 1 46501599 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R1760K,Missense_R1753K,Missense_R1752K,Missense_R1599K exm56032 1 46501694 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R1792W,Missense_R1785W,Missense_R1784W,Missense_R1631W indel.3204 1 46509377 [I/D] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON exm56038 1 46509416 [G/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_Q380E,Missense_Q395E,Missense_Q439E,Missense_Q395E,Missense_Q395E,Silent,Missense_Q439E,Missense_Q358E,Missense_Q283E,Missense_Q485E,Missense_Q456E,Missense_Q382E,Missense_Q395E exm56039 1 46509469 [A/G] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_L362P,Missense_L377P,Missense_L421P,Missense_L377P,Missense_L377P,Silent,Missense_L421P,Missense_L340P,Missense_L265P,Missense_L467P,Missense_L438P,Missense_L364P,Missense_L377P exm56045 1 46511617 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_K328R,Missense_K343R,Missense_K387R,Missense_K343R,Missense_K343R,Silent,Missense_K387R,Missense_K306R,Missense_K231R,Missense_K433R,Missense_K404R,Silent,Missense_K343R exm2233487 1 46511690 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_I304V,Missense_I319V,Missense_I363V,Missense_I319V,Missense_I319V,Silent,Missense_I363V,Missense_I282V,Missense_I207V,Missense_I409V,Missense_I380V,Silent,Missense_I319V exm56049 1 46511746 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_N285S,Missense_N300S,Missense_N344S,Missense_N300S,Missense_N300S,Silent,Missense_N344S,Missense_N263S,Missense_N188S,Missense_N390S,Missense_N361S,Silent,Missense_N300S exm56054 1 46512266 [A/G] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_R266C,Missense_R281C,Missense_R325C,Missense_R281C,Missense_R281C,Silent,Missense_R325C,Missense_R244C,Missense_R169C,Missense_R371C,Missense_R342C,Missense_R325C,Missense_R281C exm56055 1 46512289 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_N258S,Missense_N273S,Missense_N317S,Missense_N273S,Missense_N273S,Silent,Missense_N317S,Missense_N236S,Missense_N161S,Missense_N363S,Missense_N334S,Missense_N317S,Missense_N273S var_1_46521492 1 46521492 [A/G] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Silent,Nonsense_R262X,Nonsense_R306X,Nonsense_R262X,Nonsense_R262X,Silent,Nonsense_R306X,Nonsense_R225X,Nonsense_R150X,Nonsense_R352X,Nonsense_R323X,Nonsense_R306X,Nonsense_R262X exm56061 1 46521559 [T/A] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Silent,Missense_N239K,Missense_N283K,Missense_N239K,Missense_N239K,Silent,Missense_N283K,Missense_N202K,Missense_N127K,Missense_N329K,Missense_N300K,Missense_N283K,Missense_N239K newrs191478062 1 46527601 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_R255Q,Missense_R211Q,Missense_R255Q,Missense_R211Q,Missense_R211Q,Silent,Missense_R255Q,Missense_R174Q,Missense_R99Q,Missense_R301Q,Missense_R272Q,Missense_R255Q,Missense_R211Q exm56068 1 46527602 [A/G] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Nonsense_R255X,Nonsense_R211X,Nonsense_R255X,Nonsense_R211X,Nonsense_R211X,Silent,Nonsense_R255X,Nonsense_R174X,Nonsense_R99X,Nonsense_R301X,Nonsense_R272X,Nonsense_R255X,Nonsense_R211X indel.3212 1 46543211 [I/D] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON rs1085243 1 46544768 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm56080 1 46546370 [G/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_M53I,Missense_M9I,Missense_M53I,Missense_M9I,Missense_M9I,Silent,Missense_M53I,Silent,Silent,Missense_M99I,Missense_M70I,Missense_M53I,Missense_M9I exm56081 1 46546408 [A/G] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_P41S,Silent,Missense_P41S,Silent,Silent,Silent,Missense_P41S,Silent,Silent,Missense_P87S,Missense_P58S,Missense_P41S,Silent rs1768802 1 46547868 [A/G] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12143865 1 46548162 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1707303 1 46598273 [A/C] NM_001303429,NM_001114172,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7512966 1 46621740 [A/G] NM_001303427,NM_001328648 LOC110117498-PIK3R3,PIK3R3 Silent,Silent rs3855959 1 46633874 [T/C] NM_001303427,NM_001328648 LOC110117498-PIK3R3,PIK3R3 Silent,Silent exm56088 1 46646780 [A/G] NM_005727 TSPAN1 EXON Missense_M1V exm56090 1 46649918 [T/C] NM_005727 TSPAN1 EXON Missense_S38F exm56100 1 46650064 [A/G] NM_005727 TSPAN1 EXON Missense_V87M exm56102 1 46650270 [T/C] NM_005727 TSPAN1 EXON Missense_F90S exm56107 1 46650542 [A/C] NM_005727 TSPAN1 EXON Missense_T142N exm56117 1 46650945 [A/G] NM_005727 TSPAN1 EXON Missense_V215M exm56119 1 46651169 [A/G] NM_005727 TSPAN1 EXON Missense_M230I exm56139 1 46655130 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Silent,Missense_S632L,Missense_S489L,Missense_S610L exm56140 1 46655158 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_M623V,Missense_M623V,Missense_M480V,Missense_M601V exm56149 1 46655585 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_V576M,Missense_V576M,Missense_V433M,Missense_V554M exm56153 1 46655645 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_D556N,Missense_D556N,Missense_D413N,Missense_D534N exm56170 1 46657769 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 Silent,Silent,Silent,Silent variant.3218 1 46657770 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Synonymous_H513H,Synonymous_H513H,Synonymous_H370H,Synonymous_H491H exm56174 1 46657799 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_V504I,Missense_V504I,Missense_V361I,Missense_V482I variant.3220 1 46657890 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Nonsense_W473X,Nonsense_W473X,Nonsense_W330X,Nonsense_W451X exm56184 1 46658095 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_T433M,Missense_T433M,Missense_T290M,Missense_T411M rs2292485 1 46658343 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 Silent,Silent,Silent,Silent indel.3225 1 46659250 [I/D] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON exm2251888 1 46659302 [C/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Synonymous_R320R,Synonymous_R320R,Synonymous_R177R,Synonymous_R298R exm56217 1 46659986 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_S280N,Missense_S280N,Missense_S137N,Missense_S258N exm56222 1 46660037 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_R263H,Missense_R263H,Missense_R120H,Missense_R241H exm1817598 1 46661684 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Synonymous_T140T,Synonymous_T140T,Silent,Synonymous_T118T exm56246 1 46661749 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_V119M,Missense_V119M,Silent,Missense_V97M exm56251 1 46662456 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_V101I,Missense_V101I,Silent,Missense_V79I exm56256 1 46662488 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_R90H,Missense_R90H,Silent,Missense_R68H exm56258 1 46662491 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_R89Q,Missense_R89Q,Silent,Missense_R67Q exm56263 1 46662669 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_E70K,Missense_E70K,Silent,Missense_E48K variant.3231 1 46662690 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Nonsense_R63X,Nonsense_R63X,Silent,Nonsense_R41X exm56272 1 46663487 [A/C] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Missense_D3Y,Missense_D3Y exm56276 1 46669222 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_A42T exm56278 1 46669276 [A/C] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_M60L rs12141928 1 46677918 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 Silent,Silent exm56282 1 46685443 [T/C] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_R91C exm56287 1 46685581 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_D137N exm56293 1 46685635 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_E155K exm56301 1 46685792 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_Q207R exm56311 1 46714242 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_D21G,Missense_D21G rs11211262 1 46721155 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent exm56317 1 46724370 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Nonsense_R75X,Nonsense_R75X newrs34761954 1 46725650 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Nonsense_R96X,Nonsense_R96X exm56334 1 46726436 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R172H,Missense_R172H exm56337 1 46726525 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R202C,Missense_R202C exm56349 1 46726931 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent exm56351 1 46726951 [T/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R262L,Missense_R262L exm56352 1 46726962 [G/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_V266L,Missense_V266L rs4660918 1 46731694 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent rs12125573 1 46734792 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent exm56363 1 46736339 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_H351Y,Missense_H351Y variant.3239 1 46736381 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Nonsense_R365X,Nonsense_R365X exm56372 1 46738397 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_P433L,Missense_P433L exm56377 1 46739296 [G/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_G496A,Missense_G496A variant.3241 1 46739334 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Nonsense_R509X,Nonsense_R509X exm56380 1 46739409 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R534C,Missense_R534C exm56381 1 46739410 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R534H,Missense_R534H variant.3242 1 46739415 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Nonsense_R536X,Nonsense_R536X exm56382 1 46739416 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R536Q,Missense_R536Q exm56395 1 46740279 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R587W,Missense_R587W newrs138693255 1 46740345 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Nonsense_R609X,Nonsense_R609X exm56407 1 46743589 [C/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_S657C,Missense_S657C exm56411 1 46743781 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R691W,Missense_R691W exm56412 1 46743782 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R691Q,Missense_R691Q exm56414 1 46743839 [G/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_T710S,Missense_T710S rs1048771 1 46743900 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Synonymous_A730A,Synonymous_A730A exm56417 1 46743923 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R738H,Missense_R738H exm56429 1 46744712 [T/C] NM_006369 LRRC41 EXON Missense_R755Q exm56443 1 46746164 [T/C] NM_006369 LRRC41 EXON Missense_V609I exm56444 1 46746196 [T/C] NM_006369 LRRC41 EXON Missense_R598Q exm56448 1 46746857 [A/G] NM_006369 LRRC41 EXON Missense_P566S exm56451 1 46746931 [T/C] NM_006369 LRRC41 EXON Missense_R541H rs12142240 1 46747301 [T/C] NM_006369 LRRC41 Silent exm56467 1 46751316 [A/C] NM_006369 LRRC41 EXON Missense_G405W exm56469 1 46751333 [T/C] NM_006369 LRRC41 EXON Missense_G399D exm56471 1 46751448 [A/G] NM_006369 LRRC41 EXON Missense_P361S exm56476 1 46751556 [A/G] NM_006369 LRRC41 EXON Missense_R325W exm56482 1 46751588 [A/G] NM_006369 LRRC41 EXON Missense_P314L exm56507 1 46763957 [T/C] NM_006369 LRRC41 EXON Synonymous_K95K exm2233496 1 46768970 [A/C] NM_006369 LRRC41 EXON Missense_A9S exm56515 1 46774783 [A/G] NM_001297566,NM_001297565,NM_006004 UQCRH,UQCRH,UQCRH EXON Silent,Silent,Missense_E22G exm56547 1 46810530 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_T51A,Silent,Missense_T2A,Missense_T2A indel.3250 1 46810533 [I/D] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON indel.3251 1 46810586 [I/D] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON exm56553 1 46810763 [A/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_N128K,Silent,Missense_N79K,Missense_N79K exm56556 1 46810797 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_S140G,Silent,Missense_S91G,Missense_S91G exm56557 1 46810815 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_R146G,Silent,Missense_R97G,Missense_R97G exm56565 1 46812747 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_R198C,Silent,Missense_R149C,Missense_R149C variant.3255 1 46818572 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Nonsense_R209X,Silent,Nonsense_R160X,Nonsense_R160X exm56576 1 46818641 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Nonsense_R232X,Silent,Nonsense_R183X,Nonsense_R183X exm56578 1 46826407 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_R262H,Silent,Missense_R213H,Missense_R213H exm56581 1 46826463 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Nonsense_R281X,Silent,Nonsense_R232X,Nonsense_R232X indel.3258 1 46826474 [D/I] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON variant.3259 1 46826500 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_A293V,Silent,Missense_A244V,Missense_A244V exm56583 1 46826501 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 Silent,Silent,Silent,Silent,Silent,Silent exm2233497 1 46827249 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_L296F,Silent,Missense_L247F,Missense_L247F exm56587 1 46827274 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_H304R,Silent,Missense_H255R,Missense_H255R variant.3261 1 46827309 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Nonsense_Q316X,Silent,Nonsense_Q267X,Nonsense_Q267X exm56589 1 46827337 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_I325T,Silent,Missense_I276T,Missense_I276T newrs189515964 1 46827396 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Nonsense_R345X,Silent,Nonsense_R296X,Nonsense_R296X exm56596 1 46827456 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_I365V,Silent,Missense_I316V,Missense_I316V rs9865 1 46827456 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_I365V,Silent,Missense_I316V,Missense_I316V indel.3263 1 46827476 [I/D] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON rs1053624 1 46827485 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Synonymous_P374P,Silent,Synonymous_P325P,Synonymous_P325P rs10252 1 46830430 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Silent,Silent,Silent rs3863641 1 46843216 [T/C] rs3766246 1 46865671 [A/G] NM_001441 FAAH Silent exm56616 1 46870705 [A/G] NM_001441 FAAH EXON Missense_G110E exm56619 1 46870761 [A/C] NM_001441 FAAH EXON Missense_P129T rs324420 1 46870761 [A/C] NM_001441 FAAH EXON Missense_P129T exm56636 1 46871409 [A/G] NM_001441 FAAH EXON Missense_R243H exm56643 1 46871973 [A/G] NM_001441 FAAH EXON Missense_R295Q exm56654 1 46874215 [A/G] NM_001441 FAAH EXON Missense_V346M exm56655 1 46874246 [T/C] NM_001441 FAAH EXON Missense_A356V exm56659 1 46874804 [A/G] NM_001441 FAAH EXON Missense_H370R rs11576941 1 46875067 [T/G] NM_001441 FAAH Silent exm56672 1 46877284 [T/G] NM_001441 FAAH EXON Synonymous_R439R rs4660928 1 46885940 [A/C] rs11211276 1 46905802 [T/G] NR_045483 FAAHP1 Silent rs2031248 1 46923102 [T/C] rs10890398 1 46925594 [T/C] rs11211282 1 46928349 [A/G] rs2031247 1 46938837 [T/C] exm2268681 1 46944805 [T/C] rs1998545 1 46954587 [T/C] rs11211294 1 46964305 [A/G] rs2025384 1 46967890 [A/G] rs6683116 1 46975773 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 Silent,Silent exm56710 1 46976131 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 Silent,Silent exm1818319 1 46976650 [A/G] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_R126H,Missense_R131H exm56734 1 46976871 [G/C] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_A200P,Missense_A205P exm56740 1 46977775 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_S248F,Missense_S253F exm56751 1 46977876 [A/G] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_E282K,Missense_E287K exm56752 1 46977885 [T/G] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_G285C,Missense_G290C exm56753 1 46977886 [G/C] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_G285A,Missense_G290A exm56757 1 46977907 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_A292V,Missense_A297V exm56760 1 46977936 [A/G] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_V302I,Missense_V307I exm56769 1 46978132 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_A367V,Missense_A372V rs2209172 1 46978497 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 EXON Silent,Silent rs2209171 1 46978885 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 EXON Silent,Silent rs6429601 1 46981536 [A/C] rs7519040 1 46986641 [A/G] rs1267308 1 46987718 [A/G] rs7525300 1 46988375 [A/C] rs7542296 1 46998009 [T/C] rs3737741 1 47000566 [T/C] NM_001357063 LOC105378696 Silent rs2486164 1 47006657 [T/C] NR_038403 MKNK1-AS1 EXON Silent rs1258033 1 47010027 [A/G] NR_038403 MKNK1-AS1 Silent rs885125 1 47011762 [A/G] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Silent,Silent rs885127 1 47012144 [A/G] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Silent,Silent exm56794 1 47013404 [A/G] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Missense_X125R,Missense_X102R exm2273649 1 47013413 [T/C] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Missense_E122K,Missense_E99K exm56797 1 47013431 [A/G] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Missense_P116S,Missense_P93S exm56808 1 47016791 [T/C] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Missense_V33I,Missense_V33I exm56809 1 47016800 [T/C] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Missense_G30S,Missense_G30S exm56819 1 47024308 [T/C] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Silent,Missense_R393Q,Silent,Missense_R434Q,Silent exm56826 1 47024442 [A/G] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Missense_R334C,Synonymous_F348F,Silent,Synonymous_F389F,Silent exm56828 1 47024454 [A/G] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Missense_P330S,Synonymous_D344D,Silent,Synonymous_D385D,Silent variant.3275 1 47030708 [T/C] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm56843 1 47030774 [T/C] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Missense_G183D,Missense_G183D,Silent,Missense_G224D,Silent exm2265005 1 47031340 [A/G] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7543083 1 47031340 [A/G] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm56844 1 47034125 [A/G] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Missense_S168F,Missense_S168F,Silent,Missense_S209F,Silent exm56865 1 47042283 [T/C] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Missense_R81Q,Missense_R81Q,Silent,Missense_R81Q,Silent exm1818502 1 47046255 [T/C] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Missense_A49T,Missense_A49T,Silent,Missense_A49T,Silent exm56869 1 47046266 [T/G] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Missense_E45A,Missense_E45A,Silent,Missense_E45A,Silent var_1_47046300 1 47046300 [T/C] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent exm56874 1 47048933 [A/G] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Missense_R23W,Missense_R23W,Silent,Missense_R23W,Silent 1KG_1_47048942 1 47048942 [I/D] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON indel.3278 1 47051602 [I/D] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON rs3766231 1 47056347 [T/C] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent rs12022855 1 47068584 [T/C] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent exm56885 1 47075329 [A/G] NM_201403,NM_145279 MOB3C,MOB3C EXON Missense_X217R,Missense_X269R exm56897 1 47075769 [T/C] NM_201403,NM_145279 MOB3C,MOB3C EXON Missense_M176V,Missense_M228V variant.3281 1 47075817 [A/G] NM_201403,NM_145279 MOB3C,MOB3C EXON Nonsense_R160X,Nonsense_R212X exm56910 1 47078762 [T/C] NM_201403,NM_145279 MOB3C,MOB3C EXON Missense_M78V,Missense_M130V exm56915 1 47078903 [A/G] NM_201403,NM_145279 MOB3C,MOB3C EXON Missense_Y31H,Missense_Y83H exm56918 1 47078966 [G/C] NM_201403,NM_145279 MOB3C,MOB3C EXON Missense_A10P,Missense_A62P exm56922 1 47080665 [T/C] NM_201403,NM_145279 MOB3C,MOB3C EXON Silent,Missense_M28I exm56923 1 47080678 [T/C] NM_201403,NM_145279 MOB3C,MOB3C EXON Silent,Missense_R24Q exm56924 1 47080679 [A/G] NM_201403,NM_145279 MOB3C,MOB3C EXON Silent,Nonsense_R24X rs6671527 1 47080679 [A/G] NM_201403,NM_145279 MOB3C,MOB3C EXON Silent,Nonsense_R24X exm56927 1 47080741 [T/C] NM_201403,NM_145279 MOB3C,MOB3C EXON Silent,Missense_R3H rs6669160 1 47087968 [A/G] rs6675720 1 47089617 [T/C] rs6696389 1 47098108 [A/G] rs723333 1 47099346 [A/C] exm56932 1 47101519 [T/C] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Missense_V329I,Missense_V218I,Missense_V261I,Missense_V155I newrs149829714 1 47101568 [A/C] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Synonymous_G312G,Synonymous_G201G,Synonymous_G244G,Synonymous_G138G rs1258061 1 47105000 [A/G] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 Silent,Silent,Silent,Silent variant.3286 1 47108970 [A/G] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Nonsense_R253X,Nonsense_R142X,Silent,Nonsense_R79X rs1745377 1 47109089 [A/G] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 Silent,Silent,Silent,Silent rs1933932 1 47109328 [T/C] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 Silent,Silent,Silent,Silent newrs140170988 1 47110833 [T/C] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Synonymous_Q251Q,Synonymous_Q140Q,Silent,Synonymous_Q77Q exm56947 1 47110834 [T/A] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Missense_Q251L,Missense_Q140L,Silent,Missense_Q77L rs631368 1 47121502 [T/C] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 Silent,Silent,Silent,Silent exm2273650 1 47138637 [T/C] NM_001145474,NM_001300864,NM_001300863 TEX38,TEX38,TEX38 EXON Missense_R44W,Silent,Silent exm56982 1 47138720 [T/G] NM_001145474,NM_001300864,NM_001300863 TEX38,TEX38,TEX38 EXON Missense_K71N,Silent,Missense_K17N rs614486 1 47138819 [T/G] NM_001145474,NM_001300864,NM_001300863 TEX38,TEX38,TEX38 EXON Missense_D104E,Missense_D28E,Missense_D50E exm56983 1 47138819 [T/G] NM_001145474,NM_001300864,NM_001300863 TEX38,TEX38,TEX38 EXON Missense_D104E,Missense_D28E,Missense_D50E exm56988 1 47139039 [T/C] NM_001145474,NM_001300864,NM_001300863 TEX38,TEX38,TEX38 EXON Missense_P178S,Missense_P102S,Missense_P124S rs1025806 1 47139103 [T/C] NM_001145474,NM_001300864,NM_001300863 TEX38,TEX38,TEX38 EXON Missense_A199V,Missense_A123V,Missense_A145V exm56992 1 47139103 [T/C] NM_001145474,NM_001300864,NM_001300863 TEX38,TEX38,TEX38 EXON Missense_A199V,Missense_A123V,Missense_A145V exm56994 1 47139117 [A/T] NM_001145474,NM_001300864,NM_001300863 TEX38,TEX38,TEX38 EXON Missense_S204T,Missense_S128T,Missense_S150T rs669647 1 47142475 [A/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Silent rs1048380 1 47142538 [A/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Silent exm57004 1 47149007 [G/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_R426T newrs149160356 1 47149049 [T/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Nonsense_S412X exm57007 1 47149056 [T/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_K410E exm1818768 1 47150183 [A/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_P389L variant.3291 1 47150276 [T/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 Silent,Silent,Silent newrs78161481 1 47152440 [A/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 Silent,Silent,Silent exm57018 1 47152520 [A/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_L337P exm57022 1 47154131 [T/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_G294E exm57025 1 47154168 [A/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_V282L exm57029 1 47155291 [G/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_D255H variant.3293 1 47157497 [A/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 Silent,Silent,Silent exm57035 1 47157570 [T/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_L207I rs2083486 1 47169210 [T/C] NM_014774 EFCAB14 Silent exm2233504 1 47173604 [T/C] NM_014774 EFCAB14 EXON Missense_I152V rs10789491 1 47179310 [A/G] NM_014774 EFCAB14 Silent exm57044 1 47182101 [T/C] NM_014774 EFCAB14 EXON Missense_R67Q variant.3295 1 47182102 [A/G] NM_014774 EFCAB14 EXON Nonsense_R67X variant.3297 1 47183618 [A/C] NM_014774 EFCAB14 EXON Nonsense_E48X rs4660957 1 47188150 [T/G] rs723690 1 47201798 [A/G] rs1971518 1 47208081 [A/G] rs594387 1 47213386 [A/G] rs686053 1 47214785 [A/G] rs720413 1 47219823 [T/C] rs986034 1 47226827 [T/G] rs863915 1 47259138 [T/C] rs2297813 1 47264724 [T/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm57055 1 47264766 [T/A] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_F5I,Missense_F5I,Silent,Missense_F5I,Silent,Silent exm57057 1 47264856 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R35W,Missense_R35W,Silent,Missense_R35W,Silent,Silent rs837398 1 47266422 [A/T] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent rs681840 1 47268041 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent rs1105456 1 47269984 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent rs1890250 1 47272785 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent exm57064 1 47276532 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_P78L,Missense_P78L,Silent,Missense_P78L,Silent,Silent exm57067 1 47276584 [A/T] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Nonsense_Y95X,Nonsense_Y95X,Silent,Nonsense_Y95X,Silent,Silent exm57068 1 47276615 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R106C,Missense_R106C,Silent,Missense_R106C,Silent,Silent exm57069 1 47276622 [T/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent rs2297812 1 47276728 [G/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent kgp15329500 1 47276819 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Silent,Synonymous_K110K,Silent,Synonymous_K110K,Silent,Silent kgp24935388 1 47276854 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Silent,Missense_I122T,Silent,Missense_I122T,Silent,Silent exm57078 1 47278169 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Synonymous_G108G,Synonymous_G123G,Silent,Synonymous_G123G,Silent,Silent exm57079 1 47278174 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_G110D,Missense_G125D,Silent,Missense_G125D,Silent,Silent rs4646487 1 47279175 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R158W,Missense_R173W,Missense_R10W,Missense_R173W,Missense_R10W,Silent exm57093 1 47279176 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R158Q,Missense_R173Q,Missense_R10Q,Missense_R173Q,Missense_R10Q,Silent exm57103 1 47279636 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R211C,Missense_R225C,Missense_R63C,Missense_R226C,Missense_R62C,Silent exm2233505 1 47279688 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_H228R,Missense_H242R,Missense_H80R,Missense_H243R,Missense_H79R,Silent exm57109 1 47279694 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R230H,Missense_R244H,Missense_R82H,Missense_R245H,Missense_R81H,Silent exm57110 1 47279699 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_F232L,Missense_F246L,Missense_F84L,Missense_F247L,Missense_F83L,Silent exm57112 1 47279898 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R250W,Missense_R264W,Missense_R102W,Missense_R265W,Missense_R101W,Silent kgp15405951 1 47279898 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R250W,Missense_R264W,Missense_R102W,Missense_R265W,Missense_R101W,Silent exm57113 1 47279899 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R250Q,Missense_R264Q,Missense_R102Q,Missense_R265Q,Missense_R101Q,Silent exm57115 1 47279928 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R260W,Missense_R274W,Missense_R112W,Missense_R275W,Missense_R111W,Silent exm57117 1 47279947 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R266Q,Missense_R280Q,Missense_R118Q,Missense_R281Q,Missense_R117Q,Silent SNP137 1 47280748 [T/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_D280E,Missense_D294E,Missense_D132E,Missense_D295E,Missense_D131E,Silent exm57125 1 47280785 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_A293T,Missense_A307T,Missense_A145T,Missense_A308T,Missense_A144T,Silent exm2233506 1 47280788 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_E294K,Missense_E308K,Missense_E146K,Missense_E309K,Missense_E145K,Silent newrs142539703 1 47280793 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Synonymous_V295V,Synonymous_V309V,Synonymous_V147V,Synonymous_V310V,Synonymous_V146V,Silent exm57127 1 47280830 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_S308G,Missense_S322G,Missense_S160G,Missense_S323G,Missense_S159G,Silent exm57128 1 47280852 [A/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_Y315S,Missense_Y329S,Missense_Y167S,Missense_Y330S,Missense_Y166S,Silent rs2297810 1 47280859 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_M317I,Missense_M331I,Missense_M169I,Missense_M332I,Missense_M168I,Silent exm57129 1 47280859 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_M317I,Missense_M331I,Missense_M169I,Missense_M332I,Missense_M168I,Silent exm57130 1 47280884 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R326C,Missense_R340C,Missense_R178C,Missense_R341C,Missense_R177C,Silent exm57131 1 47280903 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R332H,Missense_R346H,Missense_R184H,Missense_R347H,Missense_R183H,Silent exm57133 1 47280927 [T/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_F340C,Missense_F354C,Missense_F192C,Missense_F355C,Missense_F191C,Silent exm57137 1 47282755 [C/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_C355S,Missense_C369S,Missense_C207S,Missense_C370S,Missense_C206S,Silent kgp1241099 1 47282772 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R361C,Missense_R375C,Missense_R213C,Missense_R376C,Missense_R212C,Silent exm57139 1 47282772 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R361C,Missense_R375C,Missense_R213C,Missense_R376C,Missense_R212C,Silent exm57140 1 47282773 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R361H,Missense_R375H,Missense_R213H,Missense_R376H,Missense_R212H,Silent exm57152 1 47283803 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_V410I,Missense_V424I,Missense_V262I,Missense_V425I,Missense_V261I,Silent exm57155 1 47283818 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R415C,Missense_R429C,Missense_R267C,Missense_R430C,Missense_R266C,Silent exm57157 1 47283878 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_G435R,Missense_G449R,Missense_G287R,Missense_G450R,Missense_G286R,Silent exm57160 1 47284367 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R459C,Missense_R473C,Missense_R311C,Missense_R474C,Missense_R310C,Silent exm57161 1 47284368 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R459H,Missense_R473H,Missense_R311H,Missense_R474H,Missense_R310H,Silent exm57163 1 47284395 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R468Q,Missense_R482Q,Missense_R320Q,Missense_R483Q,Missense_R319Q,Silent kgp6364747 1 47284526 [A/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Silent,Silent,Silent,Silent,Silent,Silent kgp8583761 1 47284923 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm2264832 1 47309265 [A/G] NR_002788 CYP4Z2P Silent rs10749865 1 47309265 [A/G] NR_002788 CYP4Z2P Silent rs6679068 1 47326226 [T/C] NR_002788 CYP4Z2P Silent rs12075287 1 47373886 [A/G] rs6687264 1 47374039 [T/C] rs11211402 1 47392054 [T/C] rs9333035 1 47395973 [A/G] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Synonymous_I426I,Silent,Synonymous_I458I,Silent,Silent,Silent,Synonymous_I360I,Silent,Silent,Silent rs9333059 1 47398483 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Synonymous_P406P,Silent,Synonymous_P438P,Silent,Silent,Silent,Synonymous_P340P,Silent,Silent,Silent rs4233507 1 47398496 [A/G] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Missense_F402S,Silent,Missense_F434S,Silent,Silent,Silent,Missense_F336S,Silent,Silent,Silent rs9333016 1 47399034 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm57193 1 47399617 [A/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp15291327 1 47399750 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Missense_N332D,Silent,Missense_N364D,Silent,Silent,Silent,Missense_N266D,Silent,Silent,Silent rs9333013 1 47399810 [A/G] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp15545556 1 47399928 [A/G] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Synonymous_A304A,Silent,Synonymous_A336A,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.3307 1 47400134 [D/I] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON indel.3308 1 47400149 [I/D] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON var_1_47400671 1 47400671 [A/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm57233 1 47400750 [C/G] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Silent,Silent,Missense_Q238E,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2233507 1 47400785 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Silent,Silent,Missense_N226S,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm57250 1 47402373 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Missense_Y158C,Silent,Missense_Y158C,Silent,Silent,Silent,Missense_Y158C,Silent,Silent,Silent rs9333005 1 47402384 [A/G] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Synonymous_I154I,Silent,Synonymous_I154I,Silent,Silent,Silent,Synonymous_I154I,Silent,Silent,Silent rs9333003 1 47402832 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm57266 1 47403746 [G/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Missense_P87A,Silent,Missense_P87A,Silent,Silent,Silent,Missense_P87A,Silent,Silent,Silent exm57267 1 47403784 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Missense_R74Q,Silent,Missense_R74Q,Silent,Silent,Silent,Missense_R74Q,Silent,Silent,Silent rs9332998 1 47404186 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11211406 1 47413786 [A/C] rs10789496 1 47416441 [T/C] rs6692958 1 47441156 [T/C] NM_001320289 CYP4X1 Silent rs10890438 1 47467796 [T/C] NM_001320289 CYP4X1 Silent rs9726786 1 47481640 [T/C] NM_001320289,NM_001320290 CYP4X1,CYP4X1 Silent,Silent rs2036462 1 47489786 [T/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 Silent,Silent,Silent exm57293 1 47495702 [T/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_I72T,Missense_I8T,Missense_I73T variant.3312 1 47495704 [T/G] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Nonsense_E73X,Nonsense_E9X,Nonsense_E74X rs9793989 1 47496738 [A/G] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 Silent,Silent,Silent var_1_47497152 1 47497152 [A/G] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_G121R,Missense_G57R,Missense_G122R exm57298 1 47498925 [T/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_A125V,Missense_A61V,Missense_A126V exm57301 1 47498961 [A/G] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_R137H,Missense_R73H,Missense_R138H exm57313 1 47501728 [A/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_S219R,Missense_S155R,Missense_S220R exm57317 1 47501822 [T/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Nonsense_R251X,Nonsense_R187X,Nonsense_R252X rs11211422 1 47502483 [A/G] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 Silent,Silent,Silent exm57330 1 47505158 [T/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_R342W,Missense_R278W,Missense_R343W exm57337 1 47514254 [A/G] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_S408G,Missense_S344G,Missense_S409G indel.3316 1 47514284 [D/I] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON variant.3318 1 47515177 [A/G] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 Silent,Silent,Silent exm57344 1 47515736 [T/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_H473Y,Missense_H409Y,Missense_H474Y exm57350 1 47533310 [T/C] NM_178134 CYP4Z1 EXON Missense_P50S exm57351 1 47533321 [A/G] NM_178134 CYP4Z1 EXON Nonsense_W53X indel.3320 1 47534370 [I/D] NM_178134 CYP4Z1 EXON kgp15236101 1 47548104 [A/G] NM_178134 CYP4Z1 EXON Missense_M155V rs11211436 1 47551273 [A/G] NM_178134 CYP4Z1 Silent indel.3321 1 47560240 [I/D] NM_178134 CYP4Z1 EXON exm57372 1 47560307 [A/G] NM_178134 CYP4Z1 EXON Missense_R281H exm57376 1 47564767 [A/G] NM_178134 CYP4Z1 EXON Missense_S293N exm2233517 1 47564798 [A/T] NM_178134 CYP4Z1 EXON Missense_D303E variant.3322 1 47564910 [T/C] NM_178134 CYP4Z1 EXON Nonsense_R341X rs6690005 1 47571391 [A/G] NM_178134 CYP4Z1 Silent newrs149156333 1 47571800 [A/G] NM_178134 CYP4Z1 EXON Nonsense_W356X indel.3324 1 47582365 [I/D] NM_178134 CYP4Z1 EXON kgp15820763 1 47583623 [A/G] NM_178134 CYP4Z1 EXON Silent rs34734216 1 47583723 [A/G] NM_178134 CYP4Z1 EXON Silent rs7554948 1 47584789 [T/G] rs12040022 1 47587253 [A/G] rs12564103 1 47594935 [A/C] exm57408 1 47603188 [T/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_R11C,Missense_R11C exm57409 1 47603256 [C/G] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_K33N,Missense_K33N exm57417 1 47606470 [A/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_L72I,Missense_L72I exm57421 1 47606567 [T/A] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_Y104F,Missense_Y104F exm57425 1 47607281 [T/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_R126W,Missense_R126W exm57427 1 47607785 [A/G] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_G130S,Missense_G130S rs2056898 1 47608197 [A/G] NM_001010969,NM_001308102 CYP4A22,CYP4A22 Silent,Silent rs10789501 1 47609489 [T/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_C231R,Silent exm57446 1 47609489 [T/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_C231R,Silent exm57448 1 47609516 [A/G] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_D240N,Silent newrs112811686 1 47609589 [T/G] NM_001010969,NM_001308102 CYP4A22,CYP4A22 Silent,Silent indel.3329 1 47610058 [D/I] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON exm1820433 1 47610137 [T/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 Silent,Silent rs1832992 1 47620126 [A/G] rs3737772 1 47627246 [T/C] rs12034515 1 47637999 [T/G] rs2798353 1 47641041 [A/G] exm57524 1 47650744 [T/C] NM_005764 PDZK1IP1 EXON Missense_V68I exm57526 1 47650768 [T/C] NM_005764 PDZK1IP1 EXON Missense_E60K exm57530 1 47653037 [T/C] NM_005764 PDZK1IP1 EXON Missense_V44I exm1820595 1 47653052 [T/C] NM_005764 PDZK1IP1 EXON Missense_V39M exm1820597 1 47653089 [T/G] NM_005764 PDZK1IP1 EXON Missense_N26K exm57533 1 47655567 [A/G] NM_005764 PDZK1IP1 EXON Missense_T13M rs12184246 1 47657141 [A/C] rs4926718 1 47661564 [A/G] rs7531972 1 47661620 [A/C] rs13373881 1 47673296 [T/C] rs741959 1 47676233 [A/G] rs2249636 1 47686533 [A/C] NM_001290404,NM_001290403,NM_003189,NM_001287347,NM_001290405,NM_001290406 TAL1,TAL1,TAL1,TAL1,TAL1,TAL1 Silent,Silent,Silent,Silent,Silent,Silent exm1820647 1 47689696 [T/C] NM_001290404,NM_001290403,NM_003189,NM_001287347,NM_001290405,NM_001290406 TAL1,TAL1,TAL1,TAL1,TAL1,TAL1 EXON Missense_Y174C,Missense_Y174C,Missense_Y174C,Missense_Y174C,Missense_Y174C,Missense_Y15C exm57556 1 47689770 [A/G] NM_001290404,NM_001290403,NM_003189,NM_001287347,NM_001290405,NM_001290406 TAL1,TAL1,TAL1,TAL1,TAL1,TAL1 EXON Synonymous_S149S,Synonymous_S149S,Synonymous_S149S,Synonymous_S149S,Synonymous_S149S,Silent rs12083555 1 47703400 [T/G] rs2758738 1 47710154 [T/C] exm57573 1 47716980 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_R1231Q,Missense_R1231Q,Missense_R1214Q,Missense_R1167Q,Missense_R1232Q,Missense_R1185Q indel.3335 1 47717021 [I/D] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON exm57575 1 47717077 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_T1199A,Missense_T1199A,Missense_T1182A,Missense_T1135A,Missense_T1200A,Missense_T1153A exm57576 1 47717079 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_I1198T,Missense_I1198T,Missense_I1181T,Missense_I1134T,Missense_I1199T,Missense_I1152T exm57577 1 47717094 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_P1193L,Missense_P1193L,Missense_P1176L,Missense_P1129L,Missense_P1194L,Missense_P1147L exm2233523 1 47717238 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_A1145V,Missense_A1145V,Missense_A1128V,Missense_A1081V,Missense_A1146V,Missense_A1099V exm57587 1 47717245 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_D1143N,Missense_D1143N,Missense_D1126N,Missense_D1079N,Missense_D1144N,Missense_D1097N exm57596 1 47717505 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_N1056S,Missense_N1056S,Missense_N1039S,Missense_N992S,Missense_N1057S,Missense_N1010S exm57598 1 47717529 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_V1048A,Missense_V1048A,Missense_V1031A,Missense_V984A,Missense_V1049A,Missense_V1002A rs6588095 1 47724166 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent exm57599 1 47725974 [A/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_V1022L,Missense_V1022L,Missense_V1005L,Missense_V958L,Missense_V1023L,Missense_V976L rs13376679 1 47726087 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_H984R,Missense_H984R,Missense_H967R,Missense_H920R,Missense_H985R,Missense_H938R exm57602 1 47726087 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_H984R,Missense_H984R,Missense_H967R,Missense_H920R,Missense_H985R,Missense_H938R exm57604 1 47726135 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_H968R,Missense_H968R,Missense_H951R,Missense_H904R,Missense_H969R,Missense_H922R exm1820775 1 47735307 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_N872S,Missense_N872S,Missense_N872S,Missense_N825S,Missense_N872S,Missense_N825S exm57618 1 47735328 [T/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_N865T,Missense_N865T,Missense_N865T,Missense_N818T,Missense_N865T,Missense_N818T exm57630 1 47737769 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_V788I,Missense_V788I,Missense_V788I,Missense_V741I,Missense_V788I,Missense_V741I exm57631 1 47737772 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_G787S,Missense_G787S,Missense_G787S,Missense_G740S,Missense_G787S,Missense_G740S newrs141874074 1 47746036 [A/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_Q698H,Missense_Q698H,Missense_Q698H,Missense_Q651H,Missense_Q698H,Missense_Q651H exm57644 1 47746113 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_S673G,Missense_S673G,Missense_S673G,Missense_S626G,Missense_S673G,Missense_S626G exm57648 1 47746254 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_V626I,Missense_V626I,Missense_V626I,Missense_V579I,Missense_V626I,Missense_V579I exm57660 1 47746675 [G/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_L485F,Missense_L485F,Missense_L485F,Missense_L438F,Missense_L485F,Missense_L438F variant.3338 1 47748012 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent exm57665 1 47748036 [C/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_P410R,Missense_P410R,Missense_P410R,Missense_P363R,Missense_P410R,Missense_P363R exm57667 1 47748129 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_S379F,Missense_S379F,Missense_S379F,Missense_S332F,Missense_S379F,Missense_S332F exm57668 1 47753287 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_A357T,Missense_A357T,Missense_A357T,Missense_A310T,Missense_A357T,Missense_A310T exm57670 1 47753301 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_R352H,Missense_R352H,Missense_R352H,Missense_R305H,Missense_R352H,Missense_R305H exm57696 1 47765811 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_H156R,Missense_H156R,Missense_H156R,Missense_H156R,Missense_H156R,Missense_H156R rs6697248 1 47766943 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent exm57699 1 47767914 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_A86V,Missense_A86V,Missense_A86V,Missense_A86V,Missense_A86V,Missense_A86V exm57700 1 47767944 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_S76L,Missense_S76L,Missense_S76L,Missense_S76L,Missense_S76L,Missense_S76L 1KG_1_47770587 1 47770587 [I/D] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON indel.3339 1 47770710 [I/D] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL rs6690084 1 47794706 [T/C] rs3925058 1 47797623 [A/G] exm2265006 1 47800713 [A/G] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 Silent,Silent,Silent,Silent rs12123269 1 47806087 [A/G] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 Silent,Silent,Silent,Silent rs10789507 1 47820192 [T/C] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 Silent,Silent,Silent,Silent exm57721 1 47834209 [T/G] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 EXON Silent,Missense_Q80H,Silent exm57725 1 47838627 [A/G] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 EXON Silent,Missense_E107K,Missense_E58K exm57726 1 47838652 [A/G] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 EXON Silent,Missense_N115S,Missense_N66S rs3088062 1 47844017 [A/G] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 EXON Silent,Silent,Silent rs6795 1 47844464 [A/G] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 EXON Silent,Silent,Silent rs17103186 1 47854514 [T/C] NR_126355 LINC01389 Silent rs6679121 1 47867150 [A/G] NR_126355 LINC01389 Silent rs11579058 1 47868005 [T/C] NR_126355 LINC01389 Silent rs7528075 1 47870271 [A/G] NR_126355 LINC01389 Silent rs7525184 1 47891361 [T/C] NR_126355 LINC01389 Silent rs2820974 1 47893929 [T/C] NR_126355 LINC01389 Silent exm57776 1 47904000 [A/G] NM_004474 FOXD2 EXON Missense_A65T rs17103253 1 47916965 [T/C] rs527430 1 47918821 [A/G] rs6695969 1 47927545 [A/G] rs543640 1 47932550 [T/G] rs505399 1 47936696 [T/C] rs10789509 1 47938129 [T/C] rs6588397 1 47943032 [T/C] rs2065945 1 47948764 [A/G] rs2065944 1 47948798 [A/G] exm-rs517384 1 47952663 [T/G] rs515146 1 47955790 [T/C] rs12134032 1 47960253 [T/C] rs12123884 1 47960631 [T/C] rs10157710 1 47961691 [T/C] rs2065946 1 47968050 [A/C] rs822886 1 47981663 [T/C] rs2506985 1 47986452 [A/G] rs11808094 1 47989572 [A/G] rs2485439 1 48004776 [T/C] rs12028069 1 48015566 [A/G] rs978246 1 48020922 [T/G] rs7550183 1 48030249 [T/C] rs12131166 1 48033804 [A/G] rs10890490 1 48035813 [T/G] rs11211563 1 48040577 [T/C] exm2264833 1 48048060 [A/G] rs1108866 1 48060089 [T/C] rs10890492 1 48063350 [A/G] rs12058525 1 48066171 [A/G] rs6660568 1 48082491 [A/G] rs4926916 1 48085268 [T/C] rs11211576 1 48091748 [A/G] rs10157025 1 48103092 [T/C] rs12029435 1 48131369 [T/C] rs1439916 1 48174867 [T/C] rs7530242 1 48189253 [T/C] rs4926601 1 48193205 [T/C] rs12022200 1 48196590 [A/G] rs6588490 1 48224494 [T/C] exm57822 1 48231630 [T/C] NM_001194986 TRABD2B EXON Missense_A500T rs6657202 1 48236963 [A/G] NM_001194986 TRABD2B Silent rs2282361 1 48240005 [T/C] NM_001194986 TRABD2B Silent exm57825 1 48241091 [T/G] NM_001194986 TRABD2B EXON Missense_A367E rs6588505 1 48254782 [T/C] NM_001194986 TRABD2B Silent rs6588506 1 48255008 [A/G] NM_001194986 TRABD2B Silent rs6675571 1 48257485 [A/C] NM_001194986 TRABD2B Silent exm57828 1 48267174 [T/C] NM_001194986 TRABD2B EXON Missense_A262T rs12024706 1 48282376 [T/G] NM_001194986 TRABD2B Silent rs11211609 1 48282667 [T/C] NM_001194986 TRABD2B Silent rs11211611 1 48288016 [A/C] NM_001194986 TRABD2B Silent rs11211613 1 48290860 [A/C] NM_001194986 TRABD2B Silent rs6666271 1 48291425 [T/C] NM_001194986 TRABD2B Silent rs10890507 1 48309587 [T/C] NM_001194986 TRABD2B Silent rs946836 1 48321221 [T/C] NM_001194986 TRABD2B Silent rs7536189 1 48331522 [T/C] NM_001194986 TRABD2B Silent rs4926664 1 48335067 [T/G] NM_001194986 TRABD2B Silent rs12048888 1 48343224 [T/C] NM_001194986 TRABD2B Silent rs11211624 1 48359634 [T/G] NM_001194986 TRABD2B Silent rs2088361 1 48362713 [T/C] NM_001194986 TRABD2B Silent rs1497095 1 48386888 [T/C] NM_001194986 TRABD2B Silent rs11211632 1 48406460 [A/G] NM_001194986 TRABD2B Silent rs1603530 1 48411729 [A/G] NM_001194986 TRABD2B Silent rs11205430 1 48442182 [A/G] NM_001194986 TRABD2B Silent rs6676465 1 48457543 [T/G] NM_001194986 TRABD2B Silent exm57832 1 48459819 [A/C] NM_001194986 TRABD2B EXON Missense_V185L rs12137714 1 48480638 [T/C] rs1693246 1 48486172 [A/G] rs11800635 1 48493434 [A/G] rs722656 1 48500746 [T/C] rs748142 1 48509053 [T/C] rs6690390 1 48512650 [A/G] rs7514118 1 48517350 [A/G] rs302691 1 48519912 [T/C] rs6679531 1 48524180 [T/C] rs302681 1 48528242 [T/C] rs502819 1 48532672 [T/G] rs638965 1 48546195 [T/C] rs560004 1 48549673 [T/C] rs17468833 1 48564267 [T/C] rs12022876 1 48567686 [A/G] NR_026749 SKINT1L Silent rs17468972 1 48568400 [T/C] NR_026749 SKINT1L Silent rs2073293 1 48570133 [A/G] NR_026749 SKINT1L Silent rs214203 1 48588004 [T/C] NR_026749 SKINT1L Silent rs17104182 1 48594201 [T/C] NR_026749 SKINT1L EXON Silent rs12741362 1 48606878 [A/G] NR_026749 SKINT1L Silent rs2134477 1 48609038 [A/C] NR_026749 SKINT1L Silent rs12044066 1 48622095 [A/G] NR_026749 SKINT1L Silent rs10788882 1 48630438 [C/G] NR_026749 SKINT1L EXON Silent rs12137265 1 48654514 [T/C] exm2268682 1 48672401 [T/C] rs1722710 1 48672401 [T/C] rs10788883 1 48682034 [A/C] rs1524732 1 48686096 [T/C] exm57844 1 48688550 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V48I,Missense_V48I exm57847 1 48690414 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Nonsense_R61X,Nonsense_R61X rs12139099 1 48691564 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 Silent,Silent exm57849 1 48694523 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_I79T,Missense_I79T exm57855 1 48694570 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_G95S,Missense_G95S exm57856 1 48694594 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_G103R,Missense_G103R exm57858 1 48694606 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V107I,Missense_V107I exm57860 1 48694618 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_E111K,Missense_E111K exm57861 1 48694627 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 Silent,Silent exm57865 1 48694997 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V124I,Missense_V149I indel.3349 1 48695060 [I/D] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON exm57869 1 48695081 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V152M,Missense_V177M rs212989 1 48695081 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V152M,Missense_V177M exm57876 1 48696362 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V199I,Missense_V224I exm57878 1 48697226 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_M207T,Missense_M232T exm57881 1 48697256 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_T217M,Missense_T242M var_1_48697274 1 48697274 [I/D] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON exm57882 1 48697277 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_A224V,Missense_A249V exm57887 1 48697656 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_R244W,Missense_R269W exm57891 1 48697713 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_R263W,Missense_R288W exm57896 1 48697733 [T/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_I269M,Missense_I294M exm57900 1 48697766 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Nonsense_W280X,Nonsense_W305X exm57907 1 48698069 [A/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_S310R,Missense_S335R variant.3356 1 48698175 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 Silent,Silent indel.3357 1 48699325 [I/D] NM_001011547,NM_001135181 SLC5A9,SLC5A9 exm57919 1 48699383 [T/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Nonsense_G364X,Nonsense_G389X rs10489600 1 48700325 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 Silent,Silent exm57921 1 48701424 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V389M,Missense_V414M exm57930 1 48703362 [T/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V435G,Missense_V460G variant.3360 1 48703389 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Nonsense_W444X,Nonsense_W469X exm57936 1 48703478 [G/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_L474V,Missense_L499V exm57939 1 48705067 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_A512V,Missense_A537V exm57941 1 48705078 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_G516R,Missense_G541R exm57946 1 48705159 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_I543V,Missense_I568V exm57955 1 48708202 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_P584L,Missense_P609L exm57957 1 48708228 [T/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Nonsense_E593X,Nonsense_E618X rs986027 1 48713394 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Silent,Silent exm2273324 1 48713394 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Silent,Silent rs212964 1 48721158 [A/G] rs6684996 1 48758458 [T/C] rs1056042 1 48764419 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_C478Y,Missense_C464Y,Missense_C462Y exm57977 1 48764419 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_C478Y,Missense_C464Y,Missense_C462Y variant.3368 1 48764477 [A/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Nonsense_R459X,Nonsense_R445X,Nonsense_R443X exm57986 1 48764525 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_G443S,Missense_G429S,Missense_G427S rs6666372 1 48765945 [A/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent newrs150721160 1 48771458 [A/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs1114192 1 48797332 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs11205475 1 48802740 [A/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs1877720 1 48824407 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent exm57998 1 48825355 [A/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_R333W,Missense_R319W,Missense_R333W exm58002 1 48825442 [A/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_V304F,Missense_V290F,Missense_V304F rs1877719 1 48828015 [A/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs12145298 1 48839644 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs10158605 1 48859681 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent exm58010 1 48861025 [A/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_V261A,Missense_V247A,Missense_V261A exm58011 1 48865023 [A/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_H260Q,Missense_H246Q,Missense_H260Q exm58018 1 48865121 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_E228K,Missense_E214K,Missense_E228K variant.3374 1 48877138 [A/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Nonsense_R135X,Nonsense_R121X,Nonsense_R135X variant.3375 1 48877225 [A/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Nonsense_R106X,Nonsense_R92X,Nonsense_R106X exm58039-other 1 48877259 [A/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Synonymous_V94V,Missense_L80F,Synonymous_V94V rs1416048 1 48882926 [A/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs3767621 1 48891957 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent exm58047 1 48918698 [C/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_L53V,Missense_L53V,Missense_L53V rs2787875 1 48946572 [A/C] rs2253233 1 48954476 [T/C] rs2798105 1 48961903 [A/G] rs12045951 1 48965209 [A/G] rs2803252 1 48966113 [T/G] rs1343124 1 48972810 [T/C] rs2354463 1 48986545 [A/G] rs12127061 1 48991061 [T/C] rs2798111 1 48999555 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Silent,Silent,Silent,Silent,Silent exm2268886 1 49002721 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent exm58053 1 49005351 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_V455M,Missense_V443M,Silent,Missense_V455M,Missense_V443M rs2803268 1 49024709 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs11205506 1 49025436 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2803270 1 49031238 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2798095 1 49036512 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2798125 1 49040384 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2803273 1 49042349 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs7539694 1 49049675 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs11205510 1 49049758 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2627754 1 49052263 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent exm58065 1 49052789 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_R397H,Missense_R385H,Silent,Missense_R397H,Missense_R385H exm58075 1 49056595 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_M350I,Missense_M338I,Silent,Missense_M350I,Missense_M338I rs7543402 1 49056695 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs6701767 1 49070646 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs320018 1 49075971 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs4926745 1 49077356 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs320025 1 49080074 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs10888608 1 49083071 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs320035 1 49089197 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent indel.3377 1 49100192 [I/D] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON rs319986 1 49102047 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent exm58086 1 49119052 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_A278T,Missense_A266T,Silent,Missense_A278T,Missense_A266T variant.3378 1 49119125 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs7556311 1 49123567 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs320004 1 49127186 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent exm58098 1 49128902 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_E228K,Missense_E216K,Silent,Missense_E228K,Missense_E216K exm58100 1 49128904 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_R227Q,Missense_R215Q,Silent,Missense_R227Q,Missense_R215Q exm2264834 1 49133886 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs320041 1 49169795 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs320050 1 49174405 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs17104710 1 49179498 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs10888618 1 49196334 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm58112 1 49202095 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_D139E,Missense_D139E,Missense_D308E,Missense_D223E,Missense_D139E rs1473455 1 49210570 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1484412 1 49219384 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3820445 1 49224584 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_R76R,Synonymous_R76R,Synonymous_R245R,Synonymous_R160R,Synonymous_R76R exm58126 1 49224596 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V72M,Missense_V72M,Missense_V241M,Missense_V156M,Missense_V72M exm58131 1 49224725 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R29C,Missense_R29C,Missense_R198C,Missense_R113C,Missense_R29C rs1316396 1 49232075 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1934379 1 49241421 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4926754 1 49242966 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs4926757 1 49249604 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs11205542 1 49262542 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent exm2268887 1 49279412 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2355686 1 49279412 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12062167 1 49310059 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs17104993 1 49316759 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs10788896 1 49317239 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs5017079 1 49336456 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs3121525 1 49361990 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs3127565 1 49365708 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs3121532 1 49369206 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs3121537 1 49374736 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs17105150 1 49378281 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs1108427 1 49385466 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs10493140 1 49407295 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12091032 1 49416462 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent exm-rs3127553 1 49438005 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs1543562 1 49454215 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs3118220 1 49461406 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent exm58145 1 49511311 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_S192N,Missense_S180N,Silent,Missense_S192N,Missense_S180N rs10888647 1 49527451 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs6687090 1 49580287 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs590503 1 49581006 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs657452 1 49589847 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent exm2264835 1 49589847 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs1924645 1 49621403 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs513360 1 49627502 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs11591141 1 49664304 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent kgp2021123 1 49665640 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs355205 1 49672039 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs1431638 1 49762418 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs241501 1 49765438 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs241467 1 49799987 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs7531656 1 49828663 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12120453 1 49840870 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs3957 1 49857911 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs1577969 1 49865295 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs883913 1 49894407 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs1177505 1 49900884 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs12037603 1 49902421 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs1933271 1 49949006 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs1185222 1 49958961 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12240044 1 49990335 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2178085 1 50023956 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs1999875 1 50049490 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs17105712 1 50052684 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs11587574 1 50053885 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs10888663 1 50081573 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent kgp12141632 1 50096292 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent kgp6584833 1 50104642 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs6660206 1 50189321 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs1474910 1 50192150 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent kgp2361558 1 50200968 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs3899856 1 50243854 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs6695041 1 50245509 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs10449745 1 50246030 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs10736388 1 50335528 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12091851 1 50353009 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs10888672 1 50359987 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12067197 1 50366482 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12403905 1 50372032 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent exm2265007 1 50416930 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs7518987 1 50426542 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs11576945 1 50456837 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs4420126 1 50468739 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent kgp3852044 1 50487846 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs4926547 1 50546810 [T/C] NM_001324208,NM_001144777 ELAVL4,ELAVL4 Silent,Silent rs11583200 1 50559820 [T/C] NM_001324208,NM_001144777 ELAVL4,ELAVL4 Silent,Silent rs11205682 1 50567676 [T/C] NM_001324208,NM_001144777 ELAVL4,ELAVL4 Silent,Silent exm1824178 1 50572019 [T/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775 ELAVL4,ELAVL4,ELAVL4,ELAVL4 EXON Silent,Silent,Silent,Missense_L24R rs2480677 1 50577654 [T/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9436444 1 50589798 [A/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4307603 1 50598368 [T/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6588376 1 50602495 [A/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3902720 1 50605337 [T/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm58161 1 50610767 [A/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 EXON Missense_V53I,Missense_V53I,Missense_V50I,Missense_V86I,Missense_V49I,Missense_V49I,Missense_V50I,Missense_V50I,Missense_V50I,Missense_V55I,Missense_V55I,Missense_V55I,Silent,Missense_V55I,Missense_V49I rs4926844 1 50613772 [A/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm58164 1 50642851 [A/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 EXON Missense_T117N,Missense_T117N,Missense_T114N,Missense_T150N,Missense_T113N,Missense_T113N,Missense_T114N,Missense_T114N,Missense_T114N,Missense_T119N,Missense_T119N,Missense_T119N,Silent,Missense_T119N,Missense_T113N exm2275447 1 50661397 [A/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324215,NM_001294348,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 EXON Missense_L228I,Missense_L228I,Missense_L225I,Missense_L261I,Missense_L224I,Missense_L224I,Missense_L225I,Missense_L225I,Missense_L230I,Missense_L230I,Missense_L230I,Missense_L224I rs2494876 1 50666515 [T/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324215,NM_001294348,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 EXON Missense_P273S,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P270S,Silent,Silent,Missense_P275S,Silent rs2480687 1 50679059 [A/G] rs2494881 1 50684153 [T/C] exm2268888 1 50684153 [T/C] rs3001644 1 50722989 [A/G] rs1875635 1 50765982 [A/G] rs1110220 1 50815397 [A/G] rs11205716 1 50835606 [A/G] rs6660621 1 50838990 [T/C] exm-rs2055491 1 50852769 [T/C] rs7413619 1 50863454 [A/G] rs1502856 1 50871847 [A/G] rs2784143 1 50874830 [T/C] exm2252034 1 50885075 [A/T] NM_032110 DMRTA2 EXON Synonymous_G297G rs17382304 1 50901078 [T/C] rs4381241 1 50907438 [T/C] NM_007051 FAF1 Silent rs718257 1 50911157 [A/G] NM_007051 FAF1 Silent rs17106219 1 50935031 [T/C] NM_007051 FAF1 Silent rs3827730 1 50937848 [T/C] NM_007051 FAF1 Silent variant.3383 1 50941136 [A/G] NM_007051 FAF1 EXON Synonymous_D623D rs10493149 1 50970475 [A/G] NM_007051 FAF1 Silent kgp6738702 1 50972015 [A/G] NM_007051 FAF1 Silent rs1149795 1 50972564 [A/G] NM_007051 FAF1 Silent rs17383290 1 51039300 [A/G] NM_007051 FAF1 Silent variant.3384 1 51048290 [A/C] NM_007051 FAF1 EXON Missense_D371E rs12082106 1 51061184 [T/C] NM_007051 FAF1 Silent exm58267 1 51061810 [A/G] NM_007051 FAF1 EXON Missense_R275W kgp5319466 1 51063131 [T/C] NM_007051 FAF1 Silent rs12063643 1 51066887 [T/C] NM_007051 FAF1 Silent rs12120719 1 51092829 [T/C] NM_007051 FAF1 Silent rs11205760 1 51174330 [T/C] NM_007051 FAF1 Silent rs6672112 1 51188594 [T/C] NM_007051 FAF1 Silent exm58279 1 51204557 [A/G] NM_007051 FAF1 EXON Missense_P177S exm58284 1 51210400 [T/G] NM_007051 FAF1 EXON Missense_K139Q rs11205768 1 51220127 [T/C] NM_007051 FAF1 Silent variant.3387 1 51253786 [A/G] NM_007051 FAF1 EXON Nonsense_R85X kgp4369223 1 51255320 [T/C] NM_007051 FAF1 Silent rs7522611 1 51257608 [T/C] NM_007051 FAF1 Silent exm58296 1 51323615 [T/G] NM_007051 FAF1 EXON Missense_N34H rs12088617 1 51347213 [T/G] NM_007051 FAF1 Silent rs7525655 1 51368512 [T/C] NM_007051 FAF1 Silent rs12118519 1 51370117 [A/G] NM_007051 FAF1 Silent kgp8747293 1 51379945 [A/G] NM_007051 FAF1 Silent rs2405008 1 51423567 [A/G] NM_007051 FAF1 Silent exm58306 1 51439625 [A/G] NM_001262,NM_078626 CDKN2C,CDKN2C EXON Missense_D64N,Missense_D64N exm58311 1 51439754 [T/G] NM_001262,NM_078626 CDKN2C,CDKN2C EXON Missense_L107V,Missense_L107V exm58313 1 51439785 [A/G] NM_001262,NM_078626 CDKN2C,CDKN2C EXON Missense_R117Q,Missense_R117Q rs11588271 1 51470242 [A/G] exm2264837 1 51470242 [A/G] rs3813634 1 51475488 [A/G] rs11205801 1 51484626 [T/G] rs7541663 1 51544465 [T/C] exm-rs17391905 1 51546140 [T/G] exm58328 1 51578237 [T/C] NM_001136508 C1orf185 EXON Nonsense_R40X rs6704076 1 51582592 [A/C] NM_001136508 C1orf185 Silent exm58332 1 51584465 [T/C] NM_001136508 C1orf185 EXON Nonsense_Q84X exm58338 1 51613354 [A/G] NM_001136508 C1orf185 EXON Missense_G171R rs12074413 1 51616379 [A/G] rs11205821 1 51631884 [T/C] rs12744230 1 51632964 [A/G] kgp3277598 1 51638634 [A/C] exm1824819 1 51753878 [A/G] NM_001297663,NM_001144832,NM_001297664,NM_001297667,NM_001297666,NM_001080494,NM_001297665 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON Missense_S562F,Missense_S566F,Missense_S535F,Missense_S139F,Missense_S206F,Missense_S563F,Missense_S598F exm58356 1 51754619 [T/C] NM_001297663,NM_001144832,NM_001297664,NM_001297667,NM_001297666,NM_001080494,NM_001297665 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON Missense_K501R,Missense_K505R,Missense_K474R,Missense_K78R,Missense_K145R,Missense_K502R,Missense_K537R exm58365 1 51756228 [G/C] NM_001297663,NM_001144832,NM_001297664,NM_001297667,NM_001297666,NM_001080494,NM_001297665 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON Missense_E446Q,Missense_E450Q,Missense_E419Q,Missense_E23Q,Missense_E90Q,Missense_E447Q,Missense_E482Q exm58391 1 51767399 [A/G] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON Missense_R300W,Missense_R304W,Missense_R273W,Missense_R301W,Missense_R336W,Missense_R335W indel.3397 1 51770774 [I/D] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON exm58419 1 51778500 [C/G] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON Missense_Q88E,Missense_Q92E,Missense_Q61E,Missense_Q89E,Missense_Q89E,Missense_Q88E var_1_51778617 1 51778617 [T/C] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A Silent,Silent,Silent,Silent,Silent,Silent exm2268889 1 51804731 [T/C] NM_001144832 TTC39A Silent exm58435 1 51826853 [T/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_N531S,Missense_N845S exm58438 1 51826921 [T/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_I508M,Missense_I822M rs17567 1 51826921 [T/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_I508M,Missense_I822M exm58448 1 51829651 [T/A] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_N435I,Missense_N749I rs6673480 1 51859242 [T/C] NM_001159969,NM_001981 EPS15,EPS15 Silent,Silent exm58452 1 51860059 [T/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_D391N,Missense_D705N exm58454 1 51860112 [A/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_T373M,Missense_T687M exm1824888 1 51866591 [A/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Synonymous_I325I,Synonymous_I639I exm58463 1 51868160 [C/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_G296A,Missense_G610A exm58473 1 51871587 [T/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_Q242P,Missense_Q556P exm58476 1 51871634 [A/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_N226K,Missense_N540K exm58479 1 51871731 [T/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_Q194P,Missense_Q508P exm58483 1 51873879 [A/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_S153R,Missense_S467R indel.3402 1 51873951 [I/D] NM_001159969,NM_001981 EPS15,EPS15 EXON exm58487 1 51873956 [A/T] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_T128S,Missense_T442S exm58489 1 51873967 [A/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_S124L,Missense_S438L exm58506 1 51910662 [T/C] NM_001981 EPS15 EXON Missense_A285T exm58509 1 51912638 [T/C] NM_001981 EPS15 EXON Missense_H264R exm2233547 1 51912639 [A/G] NM_001981 EPS15 EXON Missense_H264Y exm58518 1 51913719 [A/G] NM_001981 EPS15 EXON Missense_T217M rs10788934 1 51923614 [A/C] NM_001981 EPS15 Silent exm58536 1 51930938 [A/C] NM_001981 EPS15 EXON Missense_V124L rs6661367 1 51935727 [T/C] NM_001981 EPS15 Silent var_1_51937362 1 51937362 [T/C] NM_001981 EPS15 EXON Synonymous_Q71Q rs10493154 1 51938848 [T/C] NM_001981 EPS15 Silent exm58554 1 51984894 [T/C] NM_001981 EPS15 EXON Missense_A4T rs7541084 1 51989591 [A/G] rs17394299 1 52008153 [A/G] rs6588412 1 52016713 [T/C] rs7534689 1 52026384 [A/C] rs12038297 1 52033122 [A/C] rs12127044 1 52033856 [T/G] kgp2444821 1 52034812 [T/C] rs6695853 1 52097580 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11205875 1 52112526 [T/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp7419103 1 52119992 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9326019 1 52134705 [A/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12074299 1 52163537 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm58579 1 52211229 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_P114S,Silent,Missense_P97S,Missense_P114S,Silent,Missense_P137S,Silent,Missense_P17S,Silent,Silent,Silent,Silent exm58585 1 52212387 [T/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_F140L,Silent,Missense_F123L,Missense_F140L,Silent,Missense_F163L,Silent,Missense_F43L,Silent,Silent,Silent,Silent exm1824980 1 52215832 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_I170V,Silent,Missense_I153V,Missense_I170V,Silent,Missense_I193V,Silent,Missense_I73V,Missense_I5V,Missense_I5V,Silent,Missense_I5V rs10489546 1 52221714 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm58590 1 52221995 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Silent,Nonsense_Q166X,Nonsense_Q183X,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_Q18X exm58592 1 52222016 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Silent,Missense_A173T,Missense_A190T,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A25T exm58595 1 52226377 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_V187I,Missense_V14I,Missense_V183I,Missense_V200I,Missense_V14I,Missense_V210I,Silent,Missense_V90I,Missense_V22I,Missense_V22I,Silent,Missense_V35I exm58597 1 52226396 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_P193L,Missense_P20L,Missense_P189L,Missense_P206L,Missense_P20L,Missense_P216L,Silent,Missense_P96L,Missense_P28L,Missense_P28L,Silent,Missense_P41L exm58599 1 52227610 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_G236R,Missense_G63R,Missense_G232R,Missense_G249R,Missense_G63R,Missense_G259R,Silent,Missense_G139R,Missense_G71R,Missense_G71R,Missense_G34R,Missense_G84R exm58605 1 52231560 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_T269I,Missense_T96I,Missense_T265I,Missense_T282I,Missense_T96I,Missense_T292I,Silent,Missense_T172I,Missense_T104I,Missense_T104I,Missense_T67I,Missense_T117I indel.3412 1 52231652 [D/I] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON exm58610 1 52237815 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_S325P,Missense_S152P,Missense_S321P,Missense_S338P,Missense_S152P,Missense_S348P,Silent,Missense_S228P,Missense_S160P,Missense_S160P,Missense_S123P,Missense_S173P exm58614 1 52238313 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_A350V,Missense_A177V,Missense_A346V,Missense_A363V,Missense_A177V,Missense_A373V,Silent,Missense_A253V,Missense_A185V,Missense_A185V,Missense_A148V,Missense_A198V exm58639 1 52251499 [T/A] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_S604T,Missense_S431T,Missense_S600T,Missense_S617T,Missense_S431T,Missense_S627T,Silent,Missense_S507T,Missense_S439T,Missense_S439T,Missense_S402T,Missense_S452T exm58643 1 52252234 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_I636V,Missense_I463V,Missense_I632V,Missense_I649V,Missense_I463V,Missense_I659V,Silent,Missense_I539V,Missense_I471V,Missense_I471V,Missense_I434V,Missense_I484V variant.3415 1 52257245 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent exm58673 1 52257317 [T/A] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_T965S,Missense_T1033S,Missense_T901S exm58688 1 52260253 [A/T] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_E889V,Missense_E957V,Missense_E825V exm58691 1 52260518 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_M871I,Missense_M939I,Missense_M807I exm58696 1 52264013 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_G838S,Missense_G906S,Missense_G774S rs12063138 1 52268726 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent exm58703 1 52269601 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_T733M,Missense_T801M,Missense_T669M exm58710 1 52275032 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_E649K,Missense_E717K,Missense_E585K rs10888735 1 52275155 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent exm58715 1 52276000 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_K619R,Missense_K687R,Missense_K555R exm58722 1 52280454 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_G491S,Missense_G559S,Missense_G427S exm58730 1 52285516 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_L416S,Missense_L484S,Missense_L352S exm58735 1 52290964 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_F344S,Missense_F412S,Missense_F280S exm58744 1 52299824 [A/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_L244W,Missense_L312W,Missense_L180W variant.3417 1 52301803 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_M238V,Missense_M306V,Missense_M174V variant.3418 1 52303159 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Silent,Missense_R255K,Missense_R123K exm58761 1 52306066 [T/A] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_E154D,Missense_E154D,Missense_E22D exm58764 1 52306086 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_E148K,Missense_E148K,Missense_E16K rs6676789 1 52316785 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent rs6663305 1 52343297 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent exm2252067 1 52344084 [A/G] NM_001101662,NM_002525 NRDC,NRDC EXON Synonymous_N68N,Synonymous_N68N exm58778 1 52344113 [T/C] NM_001101662,NM_002525 NRDC,NRDC EXON Missense_T59A,Missense_T59A exm58779 1 52344122 [G/C] NM_001101662,NM_002525 NRDC,NRDC EXON Missense_A56P,Missense_A56P exm58781 1 52344157 [A/G] NM_001101662,NM_002525 NRDC,NRDC EXON Missense_P44L,Missense_P44L rs2842586 1 52345760 [T/C] rs11205901 1 52348349 [A/G] rs1045633 1 52373863 [A/G] NM_002867 RAB3B EXON Silent exm58789 1 52385648 [A/G] NM_002867 RAB3B EXON Missense_T204M exm58793 1 52385693 [T/C] NM_002867 RAB3B EXON Missense_D189G exm58794 1 52385700 [T/C] NM_002867 RAB3B EXON Missense_M187V rs10888740 1 52400097 [A/G] NM_002867 RAB3B Silent rs4503295 1 52407430 [A/G] NM_002867 RAB3B Silent rs10888743 1 52423167 [T/C] NM_002867 RAB3B Silent rs2794997 1 52469594 [T/C] variant.3422 1 52486598 [A/G] NM_015913 TXNDC12 EXON Silent variant.3424 1 52489158 [T/C] NM_015913 TXNDC12 Silent variant.3425 1 52490245 [A/C] NM_015913 TXNDC12 EXON Nonsense_E98X exm58824 1 52492993 [A/G] NM_015913 TXNDC12 EXON Missense_T80M variant.3426 1 52498383 [A/G] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Nonsense_Q351X exm58841 1 52498721 [C/G] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_P238R exm58842 1 52498728 [T/C] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_E236K exm58844 1 52498733 [T/C] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_G234D exm58847 1 52498818 [T/G] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_P206T exm58848 1 52498836 [A/C] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_S200A exm58853 1 52498861 [A/T] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_D191E exm58855 1 52498868 [G/C] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_T189S exm58863 1 52499058 [G/C] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_P126A exm58875 1 52499217 [T/G] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_H73N exm58877 1 52499253 [A/C] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_A61S variant.3432 1 52507209 [T/C] NM_015913,NR_046405,NR_046406 TXNDC12,TXNDC12,TXNDC12 EXON Missense_S53N,Silent,Silent exm58896 1 52520704 [A/G] NM_015913,NR_046405,NR_046406 TXNDC12,TXNDC12,TXNDC12 EXON Missense_I22T,Silent,Silent exm58897 1 52520722 [C/G] NM_015913,NR_046405,NR_046406 TXNDC12,TXNDC12,TXNDC12 EXON Missense_S16T,Silent,Silent exm58898 1 52520740 [A/G] NM_015913,NR_046405,NR_046406 TXNDC12,TXNDC12,TXNDC12 EXON Missense_T10I,Silent,Silent rs2809954 1 52521798 [T/G] NM_015913,NR_046405,NR_046406 TXNDC12,TXNDC12,TXNDC12 EXON Silent,Silent,Silent kgp15838037 1 52560928 [A/G] rs12038465 1 52568781 [A/G] rs11205935 1 52617169 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs7512531 1 52630296 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs12086028 1 52631292 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs11205940 1 52658156 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs6657731 1 52696159 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent indel.3433 1 52698917 [I/D] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON exm58921 1 52703169 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_V27A,Missense_V27A exm58923 1 52703225 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_R46W,Missense_R46W exm58926 1 52703288 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_P67S,Missense_P67S exm58928 1 52703355 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_A89V,Missense_A89V exm58930 1 52703448 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_Y120C,Missense_Y120C exm58933 1 52703491 [G/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_K134N,Missense_K134N exm58940 1 52703708 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_M207V,Missense_M207V exm58941 1 52703709 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_M207T,Missense_M207T exm58947 1 52703790 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_S234F,Missense_S234F exm58954 1 52703949 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_Y287C,Missense_Y287C exm58965 1 52704153 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_C355Y,Missense_C355Y exm58967 1 52704159 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_R357Q,Missense_R357Q exm58970 1 52704264 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_H392R,Missense_H392R exm58972 1 52704330 [A/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_Q414P,Missense_Q414P exm58974 1 52704350 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_K421E,Missense_K421E exm58980 1 52704569 [T/A] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_T494S,Missense_T494S exm58987 1 52704740 [T/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_C551G,Missense_C551G exm58989 1 52704776 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_P563S,Missense_P563S exm58990 1 52704789 [G/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_A567G,Missense_A567G exm58996 1 52705004 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_I639V,Missense_I639V exm59002 1 52705115 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_G676S,Missense_G676S exm59020 1 52732490 [C/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Silent,Missense_H814Q exm59024 1 52734221 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_M789V,Missense_M848V exm59029 1 52740137 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_T817M,Missense_T876M exm59031 1 52740229 [T/A] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_I848F,Missense_I907F variant.3434 1 52740256 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_D857N,Missense_D916N rs11205949 1 52744754 [T/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent exm59039 1 52747414 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_C925Y,Missense_C984Y exm59042 1 52747446 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_I936V,Missense_I995V variant.3436 1 52759349 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_L1025F,Missense_L1084F exm2252081 1 52761589 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Synonymous_S1032S,Synonymous_S1091S exm59050 1 52761632 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_I1047V,Missense_I1106V exm59051 1 52769526 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_V1064I,Missense_V1123I exm59056 1 52798576 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_N1133S,Missense_N1192S exm59061 1 52803503 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_E1185K,Missense_E1244K exm59067 1 52810458 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_D1261N,Missense_D1320N rs7546223 1 52814170 [A/G] variant.3437 1 52820549 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Nonsense_Q768X,Nonsense_Q774X exm59101 1 52820567 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_G762S,Missense_G768S exm59106 1 52821115 [C/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_A732P,Missense_A738P exm59107 1 52821295 [T/A] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_F724L,Missense_F730L exm59116 1 52821892 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_H674Y,Missense_H680Y exm1825963 1 52821952 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_R654C,Missense_R660C exm59122 1 52822056 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_R646Q,Missense_R652Q exm59125 1 52822722 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_A610V,Missense_A616V exm59126 1 52822749 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_H601R,Missense_H607R exm59134 1 52823299 [A/T] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_S551C,Missense_S557C exm2233556 1 52823340 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_R537Q,Missense_R543Q exm59145 1 52823546 [C/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_V496L,Missense_V502L exm59147 1 52823573 [C/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Silent,Missense_Q493E exm59148 1 52823579 [C/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Silent,Missense_H491D exm59163 1 52824359 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Synonymous_P443P,Synonymous_P443P variant.3445 1 52824403 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Nonsense_R429X,Nonsense_R429X exm59175 1 52824749 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_R403W,Missense_R403W exm59177 1 52824767 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_E397K,Missense_E397K exm2252083 1 52824768 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Synonymous_R396R,Synonymous_R396R exm59182 1 52824996 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_T351I,Missense_T351I exm59191 1 52825460 [C/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_Q287E,Missense_Q287E exm59193 1 52825463 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Nonsense_R286X,Nonsense_R286X exm59195 1 52825483 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_P279L,Missense_P279L exm59202 1 52825833 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_A226T,Missense_A226T exm59221 1 52826729 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_G132S,Missense_G132S exm59224 1 52826789 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_V112I,Missense_V112I exm59225 1 52826803 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_T107M,Missense_T107M rs11806164 1 52827032 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B Silent,Silent exm59228 1 52827195 [C/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_A103G,Missense_A103G exm59232 1 52827241 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_R88W,Missense_R88W exm1826056 1 52828280 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_G70R,Missense_G70R exm1826059 1 52828383 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_M35I,Missense_M35I exm59239 1 52828384 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_M35T,Missense_M35T exm59240 1 52830224 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Synonymous_Q23Q,Synonymous_Q23Q exm59242 1 52830241 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_V18M,Missense_V18M rs9633423 1 52836139 [A/G] exm2260412 1 52836736 [A/G] exm59254 1 52838992 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_M816T,Missense_M811T,Missense_M816T exm59260 1 52840559 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_V772I,Missense_V767I,Missense_V772I newrs61756138 1 52841102 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_K768R,Missense_K763R,Missense_K768R exm59269 1 52841243 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R721Q,Missense_R716Q,Missense_R721Q var_1_52841246 1 52841246 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R720Q,Missense_R715Q,Missense_R720Q exm2233559 1 52847321 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_A709V,Missense_A704V,Missense_A709V exm59271 1 52847342 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_D702G,Missense_D697G,Missense_D702G var_1_52849109 1 52849109 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R666W,Missense_R661W,Missense_R666W exm59303 1 52850899 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_C506Y,Missense_C501Y,Missense_C506Y exm59309 1 52851539 [A/T] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_E489V,Missense_E484V,Missense_E489V exm59313 1 52851594 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_A471T,Missense_A466T,Missense_A471T exm59314 1 52851599 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_C469Y,Missense_C464Y,Missense_C469Y exm59315 1 52851600 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_C469R,Missense_C464R,Missense_C469R exm59318 1 52851608 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_T466M,Missense_T461M,Missense_T466M exm59319 1 52854114 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Synonymous_S461S,Silent,Synonymous_S461S var_1_52854114 1 52854114 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Synonymous_S461S,Silent,Synonymous_S461S exm59323 1 52854175 [A/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R441M,Missense_R441M,Missense_R441M exm59324 1 52854179 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_S440P,Missense_S440P,Missense_S440P variant.3464 1 52854889 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R396Q,Missense_R396Q,Missense_R396Q exm59327 1 52854890 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R396W,Missense_R396W,Missense_R396W exm59332 1 52854961 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_A372V,Missense_A372V,Missense_A372V variant.3465 1 52859236 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Nonsense_R321X,Nonsense_R321X,Nonsense_R321X indel.3466 1 52859336 [I/D] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON exm59342 1 52859391 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_S269L,Missense_S269L,Missense_S269L exm59344 1 52859407 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R264W,Missense_R264W,Missense_R264W exm59353 1 52861899 [T/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_Q180H,Missense_Q180H,Missense_Q180H indel.3467 1 52861976 [D/I] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON exm1826388 1 52862002 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_T146M,Missense_T146M,Missense_T146M exm59358 1 52863406 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_P118L,Missense_P118L,Missense_P118L variant.3468 1 52863417 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Nonsense_W114X,Nonsense_W114X,Nonsense_W114X exm59360 1 52863445 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R105Q,Missense_R105Q,Missense_R105Q newrs141971656 1 52863488 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Nonsense_R91X,Nonsense_R91X,Nonsense_R91X indel.3471 1 52867800 [D/I] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 exm59371 1 52867839 [G/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R19S,Missense_R19S,Missense_R19S rs7551213 1 52868227 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 Silent,Silent,Silent exm2252088 1 52870544 [A/C] NM_032864 PRPF38A EXON Synonymous_G41G exm59386 1 52874253 [A/G] NM_032864 PRPF38A EXON Missense_M101I exm59399 1 52879551 [T/C] NM_032864 PRPF38A EXON Synonymous_L204L exm59401 1 52879611 [G/C] NM_032864 PRPF38A EXON Missense_R224G exm59403 1 52879623 [A/G] NM_032864 PRPF38A EXON Missense_T228A variant.3473 1 52889540 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Silent,Silent rs17107217 1 52889891 [A/C] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent exm59426 1 52891053 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_R1613Q,Missense_R1612Q exm2233563 1 52891085 [A/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_L1602F,Missense_L1601F exm59439 1 52896730 [G/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_V1556L,Missense_V1555L exm59448 1 52896964 [G/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_P1478A,Missense_P1477A exm59457 1 52901119 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_N1394S,Missense_N1393S exm59458 1 52901123 [A/G] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_R1393C,Missense_R1392C exm59464 1 52902525 [A/G] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_P1355L,Missense_P1354L exm59465 1 52902540 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_R1350Q,Missense_R1349Q exm59467 1 52902547 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_D1348N,Missense_D1347N exm1826447 1 52911472 [A/G] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_I1270T,Missense_I1270T rs12239281 1 52915793 [T/C] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent exm59497 1 52933876 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_K981R,Missense_K981R exm59505 1 52940543 [A/T] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_L896F,Missense_L896F exm2233564 1 52940629 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_D868N,Missense_D868N exm59516 1 52940845 [A/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_D796Y,Missense_D796Y exm59523 1 52941000 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_N744S,Missense_N744S exm59529 1 52941198 [A/G] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_S678L,Missense_S678L rs10493168 1 52955458 [T/C] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent exm59552 1 52961176 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_R397G,Missense_R397G exm59569 1 52991387 [A/G] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_T189I,Missense_T189I exm59579 1 52991646 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_N103D,Missense_N103D exm1826547 1 52991732 [T/G] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_K74T,Missense_K74T rs1493365 1 53017445 [A/G] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent rs835337 1 53059106 [A/G] rs835342 1 53064034 [A/G] kgp15405122 1 53072432 [A/G] NM_015696 GPX7 EXON Missense_R72Q kgp6717648 1 53072454 [T/C] NM_015696 GPX7 EXON Synonymous_F79F exm59603 1 53072530 [T/C] NM_015696 GPX7 EXON Missense_R105C kgp15165835 1 53074261 [A/G] NM_015696 GPX7 EXON Silent rs1047619 1 53074412 [A/G] NM_015696 GPX7 EXON Silent rs1047635 1 53074532 [A/C] NM_015696 GPX7 EXON Silent kgp15489178 1 53074599 [A/G] NM_015696 GPX7 EXON Silent rs6588432 1 53081321 [A/G] exm-rs6688451 1 53086040 [T/C] exm59622 1 53099242 [A/G] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A EXON Silent,Silent,Missense_G26D rs11205983 1 53102133 [A/G] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A Silent,Silent,Silent rs554870 1 53106057 [A/G] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A Silent,Silent,Silent exm59628 1 53108537 [T/C] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A EXON Silent,Silent,Missense_I62T exm59629 1 53108543 [G/C] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A EXON Silent,Silent,Missense_A64G exm59630 1 53108545 [T/C] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A EXON Silent,Silent,Missense_L65F exm59637 1 53108665 [T/C] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A EXON Silent,Silent,Nonsense_Q105X rs936632 1 53111782 [A/C] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A Silent,Silent,Silent rs6692566 1 53114318 [A/G] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A Silent,Silent,Silent exm2252095 1 53114736 [T/C] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A Silent,Silent,Silent exm59647 1 53122648 [A/G] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A EXON Silent,Silent,Missense_D170G rs681865 1 53125600 [A/G] NR_135157,NR_135156 SHISAL2A,SHISAL2A Silent,Silent rs269303 1 53143271 [T/C] exm59649 1 53153432 [T/C] NM_023077 COA7 EXON Missense_K219R newrs149085843 1 53153451 [A/G] NM_023077 COA7 EXON Nonsense_R213X exm59650 1 53153451 [A/G] NM_023077 COA7 EXON Nonsense_R213X rs428366 1 53155867 [T/C] NM_023077 COA7 Silent exm59665 1 53158503 [T/C] NM_023077 COA7 EXON Missense_R48Q indel.3481 1 53158511 [I/D] NM_023077 COA7 EXON exm59667 1 53158524 [A/C] NM_023077 COA7 EXON Missense_V41G exm59670 1 53158534 [A/G] NM_023077 COA7 EXON Missense_Y38H indel.3482 1 53163902 [D/I] NM_023077 COA7 EXON rs375945 1 53164220 [T/C] rs440871 1 53173052 [T/C] rs6703281 1 53180716 [T/C] rs374849 1 53185631 [A/G] rs11205998 1 53203586 [A/G] NM_024646 ZYG11B Silent rs6661196 1 53203664 [A/G] NM_024646 ZYG11B Silent rs11206006 1 53218380 [A/G] NM_024646 ZYG11B Silent rs6664794 1 53234874 [A/G] NM_024646 ZYG11B Silent newrs142037149 1 53236690 [A/G] NM_024646 ZYG11B Silent 1KG_1_53236781 1 53236781 [I/D] NM_024646 ZYG11B EXON exm59702 1 53237196 [A/G] NM_024646 ZYG11B EXON Missense_R234Q exm59722 1 53250673 [A/G] NM_024646 ZYG11B EXON Missense_D406G rs7523761 1 53250915 [T/C] NM_024646 ZYG11B Silent exm59728 1 53262456 [A/G] NM_024646 ZYG11B EXON Synonymous_R495R exm2273325 1 53287305 [T/C] NM_024646 ZYG11B EXON Silent exm59754 1 53308575 [T/C] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Silent,Missense_P7L rs17107438 1 53309807 [A/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent exm59762 1 53320274 [T/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Silent,Missense_E76D rs480299 1 53320274 [T/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Silent,Missense_E76D exm2233572 1 53322768 [T/A] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Silent,Missense_I119L exm59765 1 53322784 [A/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Silent,Missense_R124H exm59771 1 53323033 [T/C] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Silent,Missense_L207P variant.3486 1 53323042 [T/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Silent,Nonsense_L210X exm59779 1 53326421 [A/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Missense_M1V,Missense_M343V rs1672909 1 53340824 [A/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent exm59796 1 53347197 [G/C] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Missense_L260V,Missense_L602V exm59797 1 53347210 [A/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Missense_N264S,Missense_N606S exm59799 1 53347270 [T/A] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Missense_H284L,Missense_H626L exm1827121 1 53364857 [A/G] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Silent,Nonsense_R217X,Nonsense_R171X,Nonsense_R248X exm59819 1 53364875 [T/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Silent,Missense_G211S,Missense_G165S,Missense_G242S exm59821 1 53364889 [A/T] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Silent,Missense_I206N,Missense_I160N,Missense_I237N exm59825 1 53370340 [A/G] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Missense_L196P,Missense_L196P,Missense_L150P,Missense_L227P exm59826 1 53370357 [T/G] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Nonsense_Y190X,Nonsense_Y190X,Nonsense_Y144X,Nonsense_Y221X 1KG_1_53370388 1 53370388 [D/I] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON exm59829 1 53370392 [T/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Missense_A179T,Missense_A179T,Missense_A133T,Missense_A210T exm59836 1 53370484 [T/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Missense_R148H,Missense_R148H,Missense_R102H,Missense_R179H exm59849 1 53373560 [T/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Missense_R115Q,Missense_R115Q,Missense_R69Q,Missense_R115Q exm59850 1 53373561 [A/G] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Missense_R115W,Missense_R115W,Missense_R69W,Missense_R115W rs562641 1 53374666 [T/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 Silent,Silent,Silent,Silent exm59856 1 53377291 [T/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Missense_R75Q,Missense_R75Q,Missense_R29Q,Missense_R75Q rs12094972 1 53385292 [A/G] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 Silent,Silent,Silent,Silent exm59885 1 53427197 [G/C] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_T140S,Missense_T116S,Missense_T96S,Missense_T59S,Missense_T140S,Missense_T96S variant.3508 1 53427259 [T/C] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Nonsense_Q161X,Nonsense_Q137X,Nonsense_Q117X,Nonsense_Q80X,Nonsense_Q161X,Nonsense_Q117X variant.3509 1 53440439 [A/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent indel.3510 1 53442353 [D/I] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 exm59900 1 53444040 [T/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent indel.3512 1 53446120 [D/I] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON rs7544995 1 53448372 [A/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent exm59917 1 53480714 [A/G] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_S388G,Missense_S368G,Missense_S331G,Missense_S412G,Missense_R8G,Missense_S8G,Missense_S8G exm59923 1 53493685 [G/C] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_A403G,Missense_A383G,Missense_A346G,Missense_A427G,Missense_A20G,Missense_A23G,Missense_A23G rs10437066 1 53495130 [A/G] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12075895 1 53497421 [A/G] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11808284 1 53504411 [A/G] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7519017 1 53510925 [A/G] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6588459 1 53511094 [T/C] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1288362 1 53513437 [T/C] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm59927 1 53513608 [T/C] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_S492L,Missense_S472L,Missense_S435L,Missense_S516L,Missense_S109L,Missense_S112L,Silent rs8871 1 53516999 [A/C] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm59937 1 53527905 [G/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R5P,Silent,Silent exm59946 1 53532535 [C/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Silent,Missense_A10P,Missense_A10P exm1827877 1 53535477 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R32C,Missense_R13C,Missense_R13C exm59950 1 53535478 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R32H,Missense_R13H,Missense_R13H exm59955 1 53535499 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_A39V,Missense_A20V,Missense_A20V exm59968 1 53535687 [A/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_L102M,Missense_L83M,Missense_L83M exm59969 1 53535699 [G/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_E106Q,Missense_E87Q,Missense_E87Q exm59973 1 53535762 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_V127I,Missense_V108I,Missense_V108I rs2275454 1 53535918 [A/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN Silent,Silent,Silent exm2252117 1 53540321 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Synonymous_Y198Y,Synonymous_Y179Y,Synonymous_Y179Y variant.3522 1 53540342 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Synonymous_K205K,Synonymous_K186K,Synonymous_K186K exm59994 1 53541538 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_T207I,Missense_T188I,Missense_T188I exm59995 1 53541549 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R211C,Missense_R192C,Missense_R192C exm60000 1 53542915 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_M260T,Missense_M241T,Missense_M241T exm60007 1 53542998 [A/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_L288M,Missense_L269M,Missense_L269M exm60009 1 53543382 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_P303L,Missense_P284L,Missense_P284L exm60021 1 53544108 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R357H,Missense_R338H,Missense_R338H exm60024 1 53544152 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_V372M,Missense_V353M,Missense_V353M exm60028 1 53544219 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R394Q,Missense_R375Q,Missense_R375Q exm60041 1 53544449 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R471C,Missense_R452C,Missense_R452C exm1827907 1 53544471 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R478H,Missense_R459H,Missense_R459H exm60048 1 53544504 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R489Q,Missense_R470Q,Missense_R470Q exm60049 1 53544513 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_T492M,Missense_T473M,Missense_T473M exm60054 1 53544597 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_V520A,Missense_V501A,Missense_V501A exm60060 1 53544666 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R543H,Missense_R524H,Missense_R524H exm2233578 1 53546521 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_T593M,Missense_T574M,Missense_T574M variant.3524 1 53547714 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Nonsense_Q623X,Nonsense_Q604X,Nonsense_Q604X rs2282340 1 53551065 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Silent,Silent,Silent exm60089 1 53553754 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_Q596R,Missense_Q537R,Synonymous_A471A exm60090 1 53553767 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_V592I,Missense_V533I,Missense_R467H rs11583585 1 53554406 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent exm60099 1 53554565 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_R542Q,Missense_R483Q,Missense_R411Q exm2275448 1 53554581 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_R537W,Missense_R478W,Missense_R406W exm60103 1 53554640 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_R517H,Missense_R458H,Missense_R386H exm60122 1 53556422 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_R422Q,Missense_R363Q,Missense_R291Q rs1288404 1 53557484 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent rs12129653 1 53558366 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Synonymous_S297S,Synonymous_S297S,Synonymous_S225S exm60142 1 53558391 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_V289A,Missense_V289A,Missense_V217A exm60160 1 53559211 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_G240D,Missense_G240D,Missense_G168D exm60161 1 53559218 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_R238C,Missense_R238C,Missense_R166C rs3766775 1 53567546 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent rs2242274 1 53568980 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent exm60174 1 53569120 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_A199T,Missense_A199T,Missense_A127T exm60177 1 53569179 [C/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_P179R,Missense_P179R,Missense_P107R exm60180 1 53569237 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_R160C,Missense_R160C,Missense_R88C rs11206101 1 53570659 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent variant.3530 1 53571448 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent rs1288369 1 53575575 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent exm60188 1 53580433 [T/A] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_I143N,Missense_I143N,Silent,Missense_I143N exm60189 1 53580449 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_A138T,Missense_A138T,Silent,Missense_A138T exm60190 1 53580452 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_D137N,Missense_D137N,Silent,Missense_D137N exm60200 1 53580545 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_V106M,Missense_V106M,Silent,Missense_V106M exm60205 1 53580593 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_V90I,Missense_V90I,Silent,Missense_V90I exm60207 1 53580601 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_R87H,Missense_R87H,Silent,Missense_R87H exm60210 1 53580635 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_G76R,Missense_G76R,Silent,Missense_G76R rs3820201 1 53581670 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs6694834 1 53587179 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs3766792 1 53590423 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs3766794 1 53591463 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs10888767 1 53598126 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent exm60215 1 53600047 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_M64V,Missense_M64V,Missense_M64V,Missense_M64V rs1288367 1 53605884 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs11206109 1 53606080 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs34418279 1 53608425 [A/C] rs1320594 1 53610372 [A/C] rs10888768 1 53615541 [T/C] rs1288344 1 53621345 [T/G] rs1288347 1 53622093 [A/G] rs6682324 1 53626014 [A/G] rs12119155 1 53626467 [T/C] exm-rs6695567 1 53629585 [A/G] rs6695567 1 53629585 [A/G] rs874349 1 53631902 [T/C] rs7531337 1 53641911 [A/C] rs11206121 1 53643272 [A/G] rs6588471 1 53644967 [T/C] rs3102044 1 53646557 [T/C] exm60233 1 53666456 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_N73S,Missense_N73S exm60235 1 53667997 [A/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_K79T,Missense_K79T exm60238 1 53668063 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_A101V,Missense_A101V exm60241 1 53668099 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_S113L,Missense_S113L rs370493 1 53675049 [A/G] NM_000098,NM_001330589 CPT2,CPT2 Silent,Silent exm60245 1 53675699 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_D118G,Missense_D118G exm1827983 1 53675711 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_S122F,Missense_S122F exm60247 1 53675725 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_V127I,Missense_V127I exm2252122 1 53675814 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_T156T,Synonymous_T156T exm60252 1 53675846 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R167Q,Missense_R167Q variant.3537 1 53675949 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Nonsense_W201X,Nonsense_W201X newrs74315298 1 53676026 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_P227L,Missense_P227L exm60266 1 53676196 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_P284S,Missense_P284S exm60273 1 53676258 [T/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_Q304H,Missense_Q304H exm60277 1 53676278 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_N311S,Missense_N311S indel.3542 1 53676339 [I/D] NM_000098,NM_001330589 CPT2,CPT2 EXON exm60280 1 53676371 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_M342T,Missense_M342T exm60282 1 53676394 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R350C,Missense_R350C variant.3543 1 53676399 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Nonsense_W351X,Nonsense_W351X exm60283 1 53676401 [T/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_F352C,Missense_F352C exm60284 1 53676448 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_V368I,Missense_V368I rs1799821 1 53676448 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_V368I,Missense_V368I var_1_53676688 1 53676688 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_F448L,Missense_F448L exm60300 1 53676718 [A/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_K458Q,Missense_K458Q exm60305 1 53676784 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_G480R,Missense_G480R exm60313 1 53676865 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_V507I,Missense_V507I exm60318 1 53676944 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_V533A,Silent exm60320 1 53676980 [A/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_E545A,Silent exm60324 1 53679053 [C/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_S588C,Missense_S565C exm60331 1 53679229 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_M647V,Missense_M624V exm60332 1 53679231 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_M647I,Missense_M624I exm60333 1 53679233 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_F648S,Missense_F625S indel.3551 1 53680396 [D/I] NM_001304760,NM_001304759,NM_017887 C1orf123,C1orf123,C1orf123 EXON exm60339 1 53681725 [T/C] NM_001304760,NM_001304759,NM_017887 C1orf123,C1orf123,C1orf123 EXON Missense_G68R,Missense_G96R,Missense_G115R variant.3552 1 53682457 [T/C] NM_001304760,NM_001304759,NM_017887 C1orf123,C1orf123,C1orf123 EXON Synonymous_P65P,Synonymous_P93P,Synonymous_P112P variant.3553 1 53682533 [T/C] NM_001304760,NM_001304759,NM_017887 C1orf123,C1orf123,C1orf123 Silent,Silent,Silent exm2233584 1 53684087 [A/G] NM_001304760,NM_001304759,NM_017887 C1orf123,C1orf123,C1orf123 EXON Synonymous_I29I,Synonymous_I57I,Synonymous_I76I var_1_53684538 1 53684538 [T/C] NM_001304760,NM_001304759,NM_017887 C1orf123,C1orf123,C1orf123 Silent,Silent,Silent rs10788949 1 53696051 [T/C] NM_002370 MAGOH Silent exm2268687 1 53696784 [T/G] NM_002370 MAGOH Silent rs3737984 1 53708850 [T/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Silent,Silent,Silent,Silent exm60394 1 53712727 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R782Q,Missense_R689Q,Missense_R952Q,Missense_R893Q rs11206127 1 53713549 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs12031155 1 53714139 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent exm60401 1 53715167 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_P743L,Silent,Missense_P913L,Silent exm60403 1 53716410 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_D706D,Synonymous_D672D,Synonymous_D876D,Synonymous_D876D rs3737983 1 53716416 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_D704D,Synonymous_D670D,Synonymous_D874D,Synonymous_D874D exm60404 1 53716416 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_D704D,Synonymous_D670D,Synonymous_D874D,Synonymous_D874D variant.3559 1 53722912 [A/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_Y642D,Silent,Missense_Y812D,Missense_Y812D exm60412 1 53722932 [G/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_T635S,Silent,Missense_T805S,Missense_T805S exm2233585 1 53722952 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_P628P,Silent,Synonymous_P798P,Synonymous_P798P exm60413 1 53722953 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_P628L,Silent,Missense_P798L,Missense_P798L exm60416 1 53723042 [T/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_S598S,Silent,Synonymous_S768S,Synonymous_S768S rs869987 1 53723190 [T/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent exm60423 1 53723993 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R566Q,Missense_R607Q,Missense_R736Q,Missense_R736Q exm60426 1 53724026 [A/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_M555R,Missense_M596R,Missense_M725R,Missense_M725R exm2233587 1 53726194 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_A496A,Synonymous_A537A,Synonymous_A666A,Synonymous_A666A exm2276893 1 53726226 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R486W,Missense_R527W,Missense_R656W,Missense_R656W exm60444 1 53728180 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_N401S,Missense_N442S,Missense_N571S,Missense_N571S exm60445 1 53729844 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R381Q,Missense_R422Q,Missense_R551Q,Missense_R551Q exm1828090 1 53730068 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_S306S,Synonymous_S347S,Synonymous_S476S,Synonymous_S476S exm60464 1 53732184 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R293H,Missense_R334H,Missense_R463H,Missense_R463H exm60465 1 53732215 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_V283M,Missense_V324M,Missense_V453M,Missense_V453M exm60466 1 53732217 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_V282A,Missense_V323A,Missense_V452A,Missense_V452A exm60470 1 53732286 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R259Q,Missense_R300Q,Missense_R429Q,Missense_R429Q exm60474 1 53736706 [A/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_A246S,Missense_A287S,Missense_A416S,Missense_A416S exm60480 1 53736959 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_I186V,Missense_I227V,Missense_I356V,Missense_I356V exm1828103 1 53737015 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_L167P,Missense_L208P,Missense_L337P,Missense_L337P exm60486 1 53741391 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Silent,Synonymous_C177C,Synonymous_C306C,Synonymous_C306C exm60507 1 53742723 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Silent,Silent,Missense_G175D,Missense_G175D exm60515 1 53746346 [T/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_T137P,Missense_T137P,Missense_T137P,Missense_T137P rs17108202 1 53754891 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs1288502 1 53757154 [A/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs11206140 1 53765434 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs867884 1 53766972 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs17108323 1 53784159 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs872315 1 53787360 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs1288520 1 53787633 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent exm60526 1 53792626 [T/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_R55R,Synonymous_R55R,Synonymous_R55R,Synonymous_R55R exm60528 1 53792651 [A/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_D46E,Missense_D46E,Missense_D46E,Missense_D46E rs12083302 1 53803639 [T/C] rs2782493 1 53807803 [T/C] rs1416096 1 53808658 [T/C] rs12075186 1 53810030 [A/G] rs7535922 1 53814038 [T/C] rs6658926 1 53817135 [T/C] rs6588474 1 53817220 [T/C] rs12135186 1 53824428 [T/C] rs1999897 1 53829729 [T/C] rs17108398 1 53845985 [A/G] rs11206153 1 53852469 [A/G] rs1288590 1 53868891 [A/G] rs4926992 1 53870466 [A/C] rs11206154 1 53877199 [T/G] rs6656566 1 53878651 [A/G] rs6686055 1 53881081 [T/C] rs12023145 1 53896599 [T/C] rs1766643 1 53901837 [T/C] rs9436924 1 53913080 [T/C] rs1288627 1 53924150 [T/C] exm60543 1 53925247 [T/C] NM_033067 DMRTB1 EXON Missense_Y41H rs1288628 1 53926037 [T/G] NM_033067 DMRTB1 Silent exm1828230 1 53927173 [A/G] NM_033067 DMRTB1 EXON Missense_R202H exm60571 1 53930352 [T/C] NM_033067 DMRTB1 EXON Missense_P265S exm60579 1 53930386 [T/C] NM_033067 DMRTB1 EXON Missense_P276L rs943514 1 53930551 [A/G] NM_033067 DMRTB1 Silent exm60593 1 53932322 [A/G] NM_033067 DMRTB1 EXON Missense_E339G rs11579521 1 53936383 [A/G] rs11579575 1 53936718 [T/G] exm2260425 1 53946644 [A/G] rs1288617 1 53952141 [A/G] exm60604 1 53972360 [A/C] NM_147193 GLIS1 EXON Missense_G599C exm60612 1 53974837 [T/C] NM_147193 GLIS1 EXON Missense_R554Q exm60613 1 53974838 [A/G] NM_147193 GLIS1 EXON Missense_R554W exm60622 1 53974903 [T/C] NM_147193 GLIS1 EXON Missense_R532Q exm2233592 1 53974913 [T/C] NM_147193 GLIS1 EXON Missense_D529N rs2280511 1 53976188 [T/C] NM_147193 GLIS1 Silent exm-rs6588480 1 53978119 [A/G] NM_147193 GLIS1 Silent exm60636 1 53980367 [A/G] NM_147193 GLIS1 EXON Missense_P430L exm60638 1 53980389 [T/C] NM_147193 GLIS1 EXON Missense_D423N exm60642 1 53980431 [A/G] NM_147193 GLIS1 EXON Missense_P409S exm60648 1 53986376 [A/G] NM_147193 GLIS1 EXON Missense_H378Y exm2252130 1 53986422 [A/G] NM_147193 GLIS1 EXON Synonymous_D362D exm60656 1 53990457 [T/C] NM_147193 GLIS1 EXON Missense_R354H exm60658 1 53990491 [T/C] NM_147193 GLIS1 EXON Missense_V343I exm60676 1 53995598 [A/G] NM_147193 GLIS1 EXON Missense_R275W rs542238 1 53996718 [T/G] NM_147193 GLIS1 Silent rs11206169 1 54005060 [T/C] NM_147193 GLIS1 Silent rs12403311 1 54007863 [T/C] NM_147193 GLIS1 Silent rs11206170 1 54010926 [A/G] NM_147193 GLIS1 Silent rs4575030 1 54024808 [T/C] NM_147193 GLIS1 Silent rs529674 1 54026880 [T/C] NM_147193 GLIS1 Silent rs4548383 1 54027035 [T/C] NM_147193 GLIS1 Silent rs3013760 1 54036593 [A/G] NM_147193 GLIS1 Silent rs2948045 1 54051898 [T/C] NM_147193 GLIS1 Silent exm60686 1 54059857 [T/C] NM_147193 GLIS1 EXON Missense_Y240C exm60687 1 54059861 [C/G] NM_147193 GLIS1 EXON Missense_R239G exm60693 1 54059956 [T/C] NM_147193 GLIS1 EXON Missense_E207G exm60704 1 54060049 [T/C] NM_147193 GLIS1 EXON Missense_G176D exm60710 1 54060109 [A/G] NM_147193 GLIS1 EXON Missense_L156P exm1828668 1 54060127 [A/G] NM_147193 GLIS1 EXON Missense_A150V exm60719 1 54060248 [T/C] NM_147193 GLIS1 EXON Missense_T110A exm60731 1 54060428 [T/C] NM_147193 GLIS1 EXON Missense_G50S rs12036675 1 54066318 [T/C] NM_147193 GLIS1 Silent rs10788959 1 54068567 [T/G] NM_147193 GLIS1 Silent rs17382457 1 54071428 [A/G] NM_147193 GLIS1 Silent rs2948048 1 54074729 [A/G] NM_147193 GLIS1 Silent rs4926611 1 54111733 [T/C] NM_147193 GLIS1 Silent rs7529819 1 54114033 [T/C] NM_147193 GLIS1 Silent rs2141079 1 54120873 [T/C] NM_147193 GLIS1 Silent rs4927025 1 54131753 [T/C] NM_147193 GLIS1 Silent rs882879 1 54154726 [T/G] NM_147193 GLIS1 Silent rs11206202 1 54174607 [A/G] NM_147193 GLIS1 Silent rs11579257 1 54187449 [T/C] NM_147193 GLIS1 Silent rs797906 1 54190695 [A/C] NM_147193 GLIS1 Silent rs702491 1 54194992 [T/C] NM_147193 GLIS1 Silent rs808860 1 54196929 [T/C] NM_147193 GLIS1 Silent var_1_54233708 1 54233708 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 Silent,Silent,Silent exm60748 1 54238077 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_T589I,Missense_T629I,Silent exm2275450 1 54252866 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_P549S,Missense_P589S,Silent exm60762 1 54258913 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_F502L,Missense_F542L,Silent exm60769 1 54262625 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_P432L,Missense_P472L,Silent exm60772 1 54262750 [T/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_K390N,Missense_K430N,Silent rs1181180 1 54264996 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 Silent,Silent,Silent rs1181145 1 54272330 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 Silent,Silent,Silent variant.3569 1 54273328 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 Silent,Silent,Silent exm60792 1 54273436 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_S222G,Missense_S262G,Silent exm60803 1 54291506 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_N147D,Missense_N187D,Silent rs1181186 1 54292026 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 Silent,Silent,Silent exm60808 1 54293704 [T/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_S101R,Missense_S141R,Silent exm60812 1 54293811 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Silent,Missense_I106V,Silent exm60816 1 54298165 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_A93V,Missense_A93V,Silent exm60821 1 54301186 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_I55M,Missense_I55M,Silent exm2233597 1 54301224 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_F43L,Missense_F43L,Silent exm60822 1 54301238 [T/A] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_I38N,Missense_I38N,Silent exm60823 1 54301284 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_W23R,Missense_W23R,Silent exm60825 1 54303892 [C/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_D15H,Missense_D15H,Silent rs11206226 1 54320337 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent rs6588492 1 54328025 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent exm60833 1 54331901 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_L268P,Silent,Silent exm60834 1 54331911 [T/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_I265V,Silent,Silent newrs141323348 1 54331941 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Nonsense_R255X,Silent,Silent exm60836 1 54331941 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Nonsense_R255X,Silent,Silent exm60838 1 54331973 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_M244T,Silent,Silent exm60840 1 54332024 [T/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_R227H,Silent,Silent exm1830849 1 54332025 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_R227C,Silent,Silent variant.3573 1 54332037 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Nonsense_Q223X,Silent,Silent exm2268688 1 54333594 [T/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent exm60847 1 54337043 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent exm60849 1 54337068 [T/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_H153R,Silent,Silent exm60850 1 54337074 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_T151M,Silent,Silent rs10788964 1 54341947 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent rs7548793 1 54343342 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent variant.3575 1 54348786 [T/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Synonymous_E65E,Silent,Silent exm60870 1 54348892 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_I30T,Silent,Silent exm1830959 1 54348914 [T/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_P23T,Silent,Silent rs926456 1 54354165 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent variant.3576 1 54354580 [T/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_E11K,Silent,Silent variant.3577 1 54354613 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Silent,Silent,Silent rs2294508 1 54354658 [T/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Silent,Silent,Silent exm60875 1 54354658 [T/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Silent,Silent,Silent exm2252151 1 54359937 [A/G] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Synonymous_E18E,Silent,Synonymous_E18E,Synonymous_E18E,Synonymous_E18E,Synonymous_E18E,Silent exm60880 1 54359937 [A/G] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Synonymous_E18E,Silent,Synonymous_E18E,Synonymous_E18E,Synonymous_E18E,Synonymous_E18E,Silent variant.3579 1 54359959 [A/G] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Missense_G26S,Silent,Missense_G26S,Missense_G26S,Missense_G26S,Missense_G26S,Silent exm60885 1 54360030 [T/A] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Synonymous_G49G,Silent,Synonymous_G49G,Synonymous_G49G,Silent,Synonymous_G49G,Silent exm1831110 1 54360137 [T/C] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Missense_T85M,Silent,Missense_T85M,Missense_T85M,Silent,Missense_T85M,Silent exm60895 1 54360178 [T/C] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Missense_R99C,Silent,Missense_R99C,Missense_R99C,Silent,Missense_R99C,Silent rs2268181 1 54361288 [T/C] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm60903 1 54371825 [A/G] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Missense_R180H,Silent,Silent,Missense_R132H,Missense_R116H,Silent,Silent exm60905 1 54371837 [T/C] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Missense_A184V,Silent,Silent,Missense_A136V,Missense_A120V,Silent,Silent rs17109582 1 54375348 [T/C] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm60912 1 54375637 [A/G] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Missense_E239K,Silent,Silent,Missense_E191K,Missense_E175K,Silent,Silent rs12063777 1 54381406 [T/C] exm1831396 1 54387395 [T/C] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 EXON Silent,Silent,Missense_A122T,Missense_A122T indel.3584 1 54387415 [I/D] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 EXON rs12067895 1 54389471 [A/C] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 Silent,Silent,Silent,Silent exm60923 1 54389583 [T/G] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 EXON Silent,Silent,Missense_E104D,Missense_E104D exm60933 1 54405716 [T/C] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 EXON Silent,Silent,Missense_E14K,Missense_E14K exm60936 1 54405745 [A/G] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 EXON Silent,Silent,Missense_I4T,Missense_I4T rs7526168 1 54413422 [T/C] NM_001256409,NM_052940 LRRC42,LRRC42 Silent,Silent exm60944 1 54417796 [A/G] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Missense_R42G,Missense_R42G variant.3586 1 54417904 [T/C] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Nonsense_R78X,Nonsense_R78X variant.3588 1 54418146 [T/G] NM_001256409,NM_052940 LRRC42,LRRC42 Silent,Silent exm60957 1 54418146 [T/G] NM_001256409,NM_052940 LRRC42,LRRC42 Silent,Silent exm60961 1 54423874 [A/T] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Missense_T176S,Missense_T176S exm60965 1 54426146 [A/G] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Synonymous_S241S,Synonymous_S241S indel.3590 1 54427743 [D/I] NM_001256409,NM_052940 LRRC42,LRRC42 EXON indel.3591 1 54427757 [I/D] NM_001256409,NM_052940 LRRC42,LRRC42 EXON exm2252160 1 54432019 [A/G] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Synonymous_E326E,Synonymous_E326E exm60984 1 54433345 [T/G] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Missense_K340N,Missense_K340N exm60986 1 54433350 [T/C] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Missense_S342F,Missense_S342F exm60987 1 54433353 [T/G] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Missense_R343L,Missense_R343L indel.3593 1 54433404 [D/I] NM_001256409,NM_052940 LRRC42,LRRC42 EXON 1KG_1_54433433 1 54433433 [D/I] NM_001256409,NM_052940 LRRC42,LRRC42 EXON exm60990 1 54433454 [G/C] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Missense_V377L,Missense_V377L exm60993 1 54433466 [A/G] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Missense_E381K,Missense_E381K exm60994 1 54433490 [A/G] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Missense_K389E,Missense_K389E exm2252161 1 54433567 [T/C] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Synonymous_Y414Y,Synonymous_Y414Y exm60998 1 54433567 [T/C] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Synonymous_Y414Y,Synonymous_Y414Y exm2265010 1 54439366 [A/G] rs11206266 1 54443867 [T/C] rs620907 1 54468166 [T/G] exm61007 1 54474738 [T/C] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Missense_D90N,Missense_D136N,Missense_D140N,Missense_D179N,Silent exm61009 1 54474768 [A/G] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Missense_R80C,Missense_R126C,Missense_R130C,Missense_R169C,Silent exm61013 1 54475954 [T/C] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 Silent,Silent,Silent,Silent,Silent exm61014 1 54475967 [A/C] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Nonsense_E64X,Nonsense_E110X,Nonsense_E114X,Nonsense_E153X,Missense_M99I exm2275451 1 54476060 [C/G] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Missense_H33D,Missense_H79D,Missense_H83D,Missense_H122D,Synonymous_P68P exm61019 1 54476084 [T/C] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 Silent,Silent,Silent,Silent,Silent exm61021 1 54477834 [T/C] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Silent,Missense_E65K,Missense_E69K,Missense_E108K,Synonymous_T54T exm61025 1 54477873 [T/C] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Silent,Missense_V52I,Missense_V56I,Missense_V95I,Synonymous_G41G exm61030 1 54479986 [A/G] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Silent,Silent,Silent,Missense_S42F,Silent rs11804837 1 54482915 [A/G] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 Silent,Silent,Silent,Silent,Silent exm61034 1 54483090 [A/C] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Missense_G11V,Missense_G11V,Silent,Missense_G11V,Missense_G11V rs1547467 1 54497040 [T/C] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 EXON Silent,Silent,Silent,Silent,Silent,Silent rs3766466 1 54505437 [A/C] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 Silent,Silent,Silent,Silent,Silent,Silent exm61051 1 54506486 [A/G] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 EXON Missense_A87V,Missense_A217V,Missense_A151V,Missense_A218V,Missense_A86V,Missense_A86V exm61055 1 54507479 [T/C] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 Silent,Silent,Silent,Silent,Silent,Silent variant.3599 1 54511361 [A/G] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051,NM_001305066 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R132X exm61071 1 54511457 [A/C] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051,NM_001305066 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 EXON Silent,Missense_C100G,Silent,Missense_C100G,Silent,Silent,Missense_C100G exm61080 1 54518678 [A/G] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051,NM_001305066 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 EXON Silent,Missense_P62S,Missense_P62S,Missense_P62S,Silent,Silent,Missense_P62S exm61082 1 54518725 [A/G] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051,NM_001305066 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 EXON Silent,Missense_A46V,Missense_A46V,Missense_A46V,Silent,Silent,Missense_A46V rs17101261 1 54519731 [A/C] NM_153035,NR_130900 TCEANC2,TCEANC2 Silent,Silent exm61098 1 54520184 [T/C] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON Missense_I30T,Silent exm61101 1 54534492 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON Missense_K56E,Silent variant.3602 1 54534572 [T/C] NM_153035,NR_130900 TCEANC2,TCEANC2 Silent,Silent rs7556423 1 54546449 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 Silent,Silent exm61104 1 54554268 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 Silent,Silent newrs139735908 1 54554268 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 Silent,Silent exm1832305 1 54554291 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON Missense_R89H,Silent indel.3604 1 54562008 [I/D] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON exm1832348 1 54562033 [T/C] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON Missense_R172W,Silent rs7524477 1 54562444 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON Silent,Silent rs7538004 1 54563522 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON Silent,Silent rs4927055 1 54575746 [T/C] NR_130900 TCEANC2 Silent rs12063422 1 54585415 [T/C] rs7516442 1 54588110 [T/C] rs7516735 1 54588398 [A/C] rs12095916 1 54588636 [A/G] rs612368 1 54591322 [A/G] rs608395 1 54592897 [A/C] exm61129 1 54605242 [A/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Silent,Missense_T434M exm61131 1 54605251 [A/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Silent,Missense_L431P exm61139 1 54605311 [A/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Silent,Missense_G411V exm61147 1 54605320 [C/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Silent,Missense_P408R exm61150 1 54605326 [G/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Silent,Missense_A406G exm61158 1 54605336 [C/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Silent,Missense_V403L exm61166 1 54605429 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_G372R,Missense_G372R exm61167 1 54605432 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_I371V,Missense_I371V exm61169 1 54605456 [A/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_R363C,Missense_R363C exm61172 1 54605528 [A/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_H339Y,Missense_H339Y exm61173 1 54605557 [T/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_A329E,Missense_A329E exm61175 1 54605576 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_D323N,Missense_D323N exm61180 1 54605666 [A/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_Y293H,Missense_Y293H exm61183 1 54605698 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_R282H,Missense_R282H exm61190 1 54606804 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_G244R,Missense_G244R rs3766465 1 54606804 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_G244R,Missense_G244R exm1832490 1 54606878 [A/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_G219V,Missense_G219V exm61194 1 54606896 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_R213H,Missense_R213H exm61198 1 54606996 [A/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_P180S,Missense_P180S rs1571541 1 54608352 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 Silent,Silent exm61207 1 54610150 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_G139D,Missense_G139D exm61208 1 54610154 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_A138T,Missense_A138T rs4927065 1 54615232 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 Silent,Silent rs6699826 1 54615558 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 Silent,Silent rs660514 1 54625292 [A/G] exm61236 1 54640318 [T/C] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_T229A,Missense_T160A,Missense_T308A exm61243 1 54640430 [G/C] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_Q191H,Missense_Q122H,Missense_Q270H indel.3615 1 54644834 [I/D] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON exm61248 1 54644859 [T/C] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_R157H,Missense_R88H,Missense_R236H exm61249 1 54644899 [G/C] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_E144Q,Missense_E75Q,Missense_E223Q exm61251 1 54644923 [T/G] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_L136M,Missense_L67M,Missense_L215M exm61257 1 54644994 [A/G] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_T112M,Missense_T43M,Missense_T191M exm61258 1 54649890 [T/C] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_G83R,Missense_G14R,Missense_G162R exm61259 1 54649913 [T/C] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_R75Q,Missense_R6Q,Missense_R154Q exm61260 1 54649930 [C/G] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_Q69H,Silent,Missense_Q148H variant.3617 1 54649975 [T/G] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL Silent,Silent,Silent variant.3618 1 54653320 [T/C] NM_001353353,NM_001353354,NM_001031672,NR_148414 CYB5RL,CYB5RL,CYB5RL,CYB5RL Silent,Silent,Silent,Silent rs10888837 1 54655895 [A/G] NM_001353353,NM_001353354,NM_001031672,NR_148414 CYB5RL,CYB5RL,CYB5RL,CYB5RL Silent,Silent,Silent,Silent exm61267 1 54656446 [A/G] NM_001353353,NM_001353354,NM_001031672,NR_148414,NM_001353356 CYB5RL,CYB5RL,CYB5RL,CYB5RL,CYB5RL EXON Silent,Silent,Missense_R108W,Silent,Missense_R108W exm61268 1 54656470 [A/G] NM_001353353,NM_001353354,NM_001031672,NR_148414,NM_001353356 CYB5RL,CYB5RL,CYB5RL,CYB5RL,CYB5RL EXON Silent,Silent,Missense_P100S,Silent,Missense_P100S exm61274 1 54661150 [T/C] NM_001353353,NM_001353354,NM_001031672,NR_148414,NM_001353356 CYB5RL,CYB5RL,CYB5RL,CYB5RL,CYB5RL EXON Missense_R47K,Silent,Missense_R47K,Silent,Missense_R47K rs946448 1 54661150 [T/C] NM_001353353,NM_001353354,NM_001031672,NR_148414,NM_001353356 CYB5RL,CYB5RL,CYB5RL,CYB5RL,CYB5RL EXON Missense_R47K,Silent,Missense_R47K,Silent,Missense_R47K exm61275 1 54661163 [A/G] NM_001353353,NM_001353354,NM_001031672,NR_148414,NM_001353356 CYB5RL,CYB5RL,CYB5RL,CYB5RL,CYB5RL EXON Nonsense_R43X,Silent,Nonsense_R43X,Silent,Nonsense_R43X exm61280 1 54661234 [T/C] NM_001353353,NM_001353354,NM_001031672,NR_148414,NM_001353356 CYB5RL,CYB5RL,CYB5RL,CYB5RL,CYB5RL EXON Missense_R19Q,Silent,Missense_R19Q,Silent,Missense_R19Q exm61283 1 54661262 [T/C] NM_001353353,NM_001353354,NM_001031672,NR_148414,NM_001353356 CYB5RL,CYB5RL,CYB5RL,CYB5RL,CYB5RL EXON Missense_D10N,Silent,Missense_D10N,Silent,Missense_D10N exm61298 1 54666074 [T/C] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_P53L,Missense_P53L exm61302 1 54666100 [A/G] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_G62R,Missense_G62R exm61303 1 54666161 [A/G] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_Y82C,Missense_Y82C exm61308 1 54670724 [A/G] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_K127R,Missense_K127R exm61311 1 54670744 [A/G] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_E134K,Missense_E134K exm61312 1 54670784 [T/C] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_I147T,Missense_I147T exm61319 1 54670828 [T/C] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_R162C,Missense_R162C variant.3621 1 54671080 [T/C] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Nonsense_R215X,Nonsense_R215X indel.3622 1 54675621 [D/I] NM_016491,NM_001330602 MRPL37,MRPL37 EXON exm61332 1 54678184 [A/C] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_E281D,Missense_E281D exm61340 1 54678305 [G/C] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_L322V,Missense_L322V exm61341 1 54678317 [T/C] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_R326W,Missense_R326W exm61342 1 54678318 [A/G] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_R326Q,Missense_R326Q rs4927071 1 54679912 [T/C] NM_016491,NM_001330602 MRPL37,MRPL37 Silent,Silent exm1832550 1 54681841 [A/G] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_V340M,Missense_V340M exm61351 1 54681920 [G/C] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_C366S,Missense_C366S var_1_54681948 1 54681948 [A/G] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Nonsense_W375X,Nonsense_W375X rs642990 1 54688516 [T/C] NM_001330602 MRPL37 Silent rs10888843 1 54689461 [T/C] NM_001330602 MRPL37 Silent rs686930 1 54700707 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent exm61421 1 54707182 [T/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 EXON Missense_I236L,Missense_I229L,Missense_I256L rs682211 1 54707510 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent exm61428 1 54708960 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 EXON Missense_G202S,Missense_G195S,Missense_G222S exm2252171 1 54718770 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs687050 1 54718770 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent exm61436 1 54722838 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 EXON Silent,Missense_A130T,Missense_A157T rs3766431 1 54730036 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs603901 1 54741767 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs9326028 1 54750625 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs10788977 1 54751900 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs4927084 1 54760066 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs6694281 1 54769520 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs12021758 1 54787049 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs17110383 1 54790499 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs4927092 1 54794819 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs2076571 1 54818099 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs7552342 1 54821429 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs10489565 1 54826187 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs12024740 1 54836906 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs11206344 1 54852994 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs6690450 1 54854079 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs213496 1 54869816 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs4927101 1 54883003 [A/G] rs11206349 1 54892741 [A/G] rs11206355 1 54905582 [T/C] rs1543369 1 54907935 [T/G] exm-rs1543369 1 54907935 [T/G] rs12758577 1 54908153 [A/C] rs4927123 1 54922003 [A/G] rs6656290 1 54943752 [T/C] rs190963 1 54946847 [A/G] rs4927133 1 54953523 [T/C] rs6698850 1 54956323 [T/C] rs1888182 1 54967890 [T/C] rs299881 1 54968494 [T/C] rs4927135 1 54983931 [T/C] rs1105690 1 54986334 [T/C] rs12752888 1 54992939 [T/C] exm61537 1 55014013 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R11W,Missense_R11W rs2133003 1 55022557 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs405731 1 55033582 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs300280 1 55033869 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs1755588 1 55044940 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs300269 1 55046392 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs17110757 1 55049806 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent exm61541 1 55050353 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R20H,Missense_R20H exm2233608 1 55050361 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R23W,Missense_R23W exm61543 1 55050376 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R28C,Missense_R28C exm61544 1 55050380 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_A29V,Missense_A29V rs1172779 1 55059295 [A/C] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent exm61575 1 55060288 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Synonymous_A177A,Synonymous_A177A exm2252187 1 55060288 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Synonymous_A177A,Synonymous_A177A exm61579 1 55060362 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_G202D,Missense_G202D exm61584 1 55062960 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_M212I,Missense_M212I exm61585 1 55062965 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_P214L,Missense_P214L exm61591 1 55064970 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R256W,Missense_R256W exm61593 1 55064980 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R259H,Missense_R259H exm1833415 1 55065022 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R273Q,Missense_R273Q exm1833416 1 55065042 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_D280N,Missense_D280N exm61608 1 55067043 [T/A] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_D329V,Missense_D329V exm61611 1 55067086 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Synonymous_G343G,Synonymous_G343G exm61614 1 55068351 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R347W,Missense_R347W exm61615 1 55068354 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R348W,Missense_R348W exm1833431 1 55070053 [A/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_K396T,Missense_K396T exm61628 1 55070752 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R414C,Missense_R414C exm61632 1 55072826 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Nonsense_Q464X,Nonsense_Q464X exm61635 1 55072856 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_V474I,Missense_V474I exm61636 1 55072871 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_L479F,Missense_L479F exm61640 1 55072911 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_A492V,Missense_A492V rs12027962 1 55073396 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent exm61643 1 55073623 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_Y504C,Missense_Y504C exm61649 1 55073660 [A/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_H516Q,Missense_H516Q exm61660 1 55074645 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Nonsense_Q549X,Silent exm1833449 1 55074683 [A/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_N561K,Silent exm61670 1 55074978 [T/A] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_Y574F exm61672 1 55075005 [T/C] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_R565Q exm61673 1 55075006 [A/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Nonsense_R565X exm61677 1 55075062 [T/C] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_G546D exm61682 1 55075099 [G/C] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_R534G exm61684 1 55075122 [G/C] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_G526A exm61686 1 55075209 [A/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_M497T exm61694 1 55075341 [A/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_S453L exm61696 1 55075386 [T/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_H438P exm61700 1 55075444 [T/C] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_A419T exm61703 1 55075452 [A/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_A416V exm61706 1 55075516 [C/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_L395V exm1833464 1 55075518 [A/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_T394M exm61721 1 55076142 [C/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_E343Q exm61723 1 55076145 [G/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_V342L exm61724 1 55076154 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_G339S exm61730 1 55076166 [G/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_P335A rs733035 1 55076430 [A/G] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent exm61736 1 55077278 [T/C] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent variant.3652 1 55077288 [A/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Nonsense_Q311X exm61738 1 55077354 [A/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_R289W exm1833481 1 55077377 [A/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_S281L exm61750 1 55078262 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_E233K exm61753 1 55078310 [T/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_T217P variant.3654 1 55080371 [A/G] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent exm61762 1 55080475 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_R158Q exm61769 1 55081762 [T/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_P116T exm61776 1 55081840 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_I90V rs11206396 1 55085499 [T/C] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent exm61779 1 55085537 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_S88G exm61782 1 55085562 [C/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_K79N exm61788 1 55085608 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_R64Q rs2117263 1 55089708 [A/C] NM_015547 ACOT11 Silent rs10736390 1 55103945 [A/G] rs752468 1 55117000 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7533275 1 55118162 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm61826 1 55118790 [C/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S64C exm61827 1 55118832 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_E78G exm1833673 1 55118861 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A88T exm61837 1 55118982 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_I128T variant.3661 1 55119039 [A/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_S147X exm61841 1 55119144 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_H182R exm61847 1 55119410 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S271G exm61852 1 55119467 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V290M exm61854 1 55119515 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y306D rs17399810 1 55119534 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S312F exm61855 1 55119534 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S312F exm61856 1 55119546 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_E316G exm61862 1 55119654 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T352M exm61866 1 55119693 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_I365T exm61867 1 55119702 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V368A exm61870 1 55119787 [A/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_N396K rs2570770 1 55120469 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.3662 1 55130838 [A/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.3663 1 55130858 [D/I] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON rs2078273 1 55130931 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs643893 1 55132925 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm61879 1 55134536 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V439F indel.3666 1 55134546 [I/D] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON exm61882 1 55134585 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_K455R exm61885 1 55136188 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P470S exm61887 1 55136529 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_V27A,Silent,Silent,Silent,Silent,Missense_V509A exm61890 1 55136559 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_Q37R,Silent,Silent,Silent,Silent,Missense_Q519R rs598130 1 55138294 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.3670 1 55139413 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Nonsense_R97X,Silent,Silent,Silent,Silent,Nonsense_R579X exm61907 1 55139471 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_P116L,Silent,Silent,Silent,Silent,Missense_P598L rs571199 1 55139618 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm61908 1 55139691 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_M119I,Silent,Silent,Silent,Silent,Missense_M601I exm61914 1 55139741 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_H136R,Silent,Silent,Silent,Silent,Missense_H618R exm61919 1 55139825 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm61920 1 55144466 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_K181R,Silent,Silent,Silent,Silent,Missense_K663R exm61921 1 55144468 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_H182Y,Silent,Silent,Silent,Silent,Missense_H664Y exm61925 1 55144505 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_Q194R,Silent,Silent,Silent,Silent,Missense_Q676R exm61928 1 55144525 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_E201K,Silent,Silent,Silent,Silent,Missense_E683K exm61931 1 55144968 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_I212M,Silent,Silent,Silent,Silent,Missense_I694M exm61936 1 55145072 [C/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_S247T,Silent,Silent,Silent,Silent,Missense_S729T exm61943 1 55145619 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R279Q,Silent,Silent,Silent,Silent,Missense_R761Q exm61944 1 55145625 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R281L,Silent,Silent,Silent,Silent,Missense_R763L rs1560854 1 55147547 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs744748 1 55149254 [A/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm61955 1 55151961 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_V369I,Silent,Silent,Silent,Silent,Missense_V851I exm61958 1 55151994 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_Y380H,Silent,Silent,Silent,Silent,Missense_Y862H rs6588528 1 55156881 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm61974 1 55161083 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R480C,Silent,Silent,Silent,Silent,Missense_R962C exm61979 1 55161125 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_E494K,Silent,Silent,Silent,Silent,Missense_E976K exm61980 1 55161141 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_T499M,Silent,Silent,Silent,Silent,Missense_T981M rs6671173 1 55161844 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm61985 1 55166015 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R514C,Silent,Silent,Silent,Silent,Missense_R996C exm61986 1 55166016 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R514H,Silent,Silent,Silent,Silent,Missense_R996H exm61990 1 55166079 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_I535T,Silent,Silent,Silent,Silent,Missense_I1017T exm61993 1 55166099 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Nonsense_R542X,Silent,Silent,Silent,Silent,Nonsense_R1024X exm62003 1 55166892 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_A579V,Silent,Silent,Silent,Silent,Missense_A1061V exm62007-other 1 55166995 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Synonymous_D613D,Silent,Silent,Silent,Silent,Synonymous_D1095D exm62012 1 55167782 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_S620F,Silent,Silent,Silent,Silent,Missense_S1102F rs3765018 1 55168298 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Synonymous_K666K,Silent,Silent,Silent,Silent,Synonymous_K1148K exm62025 1 55168357 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_A686V,Silent,Silent,Silent,Silent,Missense_A1168V exm62027 1 55168366 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R689Q,Silent,Silent,Silent,Silent,Missense_R1171Q exm62034 1 55172129 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_A714T,Silent,Silent,Silent,Silent,Missense_A1196T exm62040 1 55172201 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_M738V,Silent,Silent,Silent,Silent,Missense_M1220V exm62041 1 55172208 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_I740T,Silent,Silent,Silent,Silent,Missense_I1222T exm62044 1 55174729 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R755H,Silent,Silent,Silent,Silent,Missense_R1237H exm62046 1 55174748 [A/T] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Synonymous_A761A,Silent,Silent,Silent,Silent,Synonymous_A1243A exm62050 1 55175664 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_Y777C,Silent,Silent,Silent,Silent,Missense_Y1259C exm62052 1 55175679 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_Q782R,Silent,Silent,Silent,Silent,Missense_Q1264R exm1833880 1 55175770 [C/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_S812R,Silent,Silent,Silent,Silent,Missense_S1294R exm62058 1 55175775 [C/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_S814T,Silent,Silent,Silent,Silent,Missense_S1296T exm62061 1 55175807 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R825C,Silent,Silent,Silent,Silent,Missense_R1307C exm62063 1 55175822 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Nonsense_Q830X,Silent,Silent,Silent,Silent,Nonsense_Q1312X exm1833882 1 55175825 [G/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_A831P,Silent,Silent,Silent,Silent,Missense_A1313P exm62071 1 55182300 [A/T] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_S47T,Missense_S47T rs3766415 1 55183132 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 Silent,Silent,Silent,Silent,Silent exm62079 1 55183290 [T/C] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_L119F,Missense_L119F exm1833957 1 55183300 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_N122S,Missense_N122S exm62090 1 55188389 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_V171M,Missense_V171M exm62094 1 55188437 [T/C] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_L187F,Missense_L187F rs4926653 1 55196099 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 Silent,Silent,Silent,Silent,Silent exm62104 1 55197246 [A/C] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_S257R,Silent exm62105 1 55197247 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_S257N,Silent rs3737829 1 55203135 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 Silent,Silent,Silent,Silent,Silent variant.3687 1 55203338 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 Silent,Silent,Silent,Silent,Silent exm62126 1 55207157 [T/C] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_R379W,Missense_R280W variant.3688 1 55207181 [T/C] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Nonsense_R387X,Nonsense_R288X var_1_55207184 1 55207184 [I/D] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON rs4927155 1 55211397 [A/G] rs6695931 1 55212984 [A/C] rs2873551 1 55217907 [T/C] rs2108035 1 55218155 [T/C] rs12046989 1 55219540 [T/C] rs2527848 1 55220911 [T/G] rs2764822 1 55222080 [A/G] exm2252197 1 55223536 [T/C] NM_152268 PARS2 EXON Synonymous_V433V exm62141 1 55223681 [A/G] NM_152268 PARS2 EXON Missense_A385V exm62146 1 55223744 [C/G] NM_152268 PARS2 EXON Missense_P364R exm62148 1 55223760 [A/C] NM_152268 PARS2 EXON Missense_D359Y exm62157 1 55223986 [C/G] NM_152268 PARS2 EXON Missense_E283D exm62162 1 55224131 [T/C] NM_152268 PARS2 EXON Missense_N235S newrs141760650 1 55224231 [A/G] NM_152268 PARS2 EXON Nonsense_R202X exm62167 1 55224269 [T/C] NM_152268 PARS2 EXON Missense_R189Q exm62174 1 55224512 [T/C] NM_152268 PARS2 EXON Missense_E108G exm1834096 1 55224552 [T/C] NM_152268 PARS2 EXON Missense_V95I exm62184 1 55224672 [A/G] NM_152268 PARS2 EXON Missense_R55W rs11577368 1 55224751 [A/C] NM_152268 PARS2 EXON Missense_R28S exm62189 1 55224751 [A/C] NM_152268 PARS2 EXON Missense_R28S exm62191 1 55224773 [A/C] NM_152268 PARS2 EXON Missense_L21R exm62193 1 55224789 [T/C] NM_152268 PARS2 EXON Missense_T16A exm62201 1 55248059 [T/G] NM_001114108 TTC22 EXON Missense_A371D exm62202 1 55248074 [A/G] NM_001114108 TTC22 EXON Missense_L366P exm62204 1 55248104 [T/C] NM_001114108 TTC22 EXON Missense_G356D exm62207 1 55248119 [T/C] NM_001114108 TTC22 EXON Missense_K351R exm2233617 1 55248120 [T/C] NM_001114108 TTC22 EXON Missense_K351E rs628667 1 55249154 [T/C] NM_001114108 TTC22 Silent exm62222 1 55251766 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_I304V,Missense_I304V variant.3692 1 55251796 [A/G] NM_001114108,NM_017904 TTC22,TTC22 EXON Nonsense_Q294X,Nonsense_Q294X exm62235 1 55252738 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Nonsense_W250X,Nonsense_W250X exm62239 1 55253386 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_R246Q,Missense_R246Q exm62240 1 55253387 [A/G] NM_001114108,NM_017904 TTC22,TTC22 EXON Nonsense_R246X,Nonsense_R246X exm62242 1 55253419 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_R235Q,Missense_R235Q exm62243 1 55253420 [A/G] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_R235W,Missense_R235W rs1147988 1 55259667 [A/G] NM_001114108,NM_017904 TTC22,TTC22 Silent,Silent rs12123513 1 55265268 [T/C] NM_001114108,NM_017904 TTC22,TTC22 Silent,Silent exm62258 1 55266278 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_G187R,Missense_G187R exm2233618 1 55266305 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_A178T,Missense_A178T exm62267 1 55266533 [A/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_A102S,Missense_A102S exm62271 1 55266617 [A/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_A74S,Missense_A74S exm62276 1 55266797 [C/G] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_L14V,Missense_L14V rs671108 1 55266797 [C/G] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_L14V,Missense_L14V rs11206431 1 55270030 [A/G] exm62287 1 55271845 [T/C] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_T19M,Missense_T19M exm62293 1 55272734 [C/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_S57C,Missense_S57C exm1834432 1 55272740 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_R59H,Missense_R59H exm62294 1 55272743 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_Y60C,Missense_Y60C exm62306 1 55273355 [T/C] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_R117W,Missense_R117W exm62307 1 55273356 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_R117Q,Missense_R117Q rs9782980 1 55273580 [T/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_G126C,Missense_G126C exm62312 1 55273580 [T/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_G126C,Missense_G126C indel.3699 1 55273583 [I/D] NM_001110533,NM_152607 LEXM,LEXM EXON exm62316 1 55273635 [T/C] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_T144I,Missense_T144I exm62317 1 55273652 [T/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_S150A,Missense_S150A exm62319 1 55273670 [T/C] NM_001110533,NM_152607 LEXM,LEXM EXON Nonsense_R156X,Nonsense_R156X newrs148698352 1 55277538 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Nonsense_W184X,Nonsense_W184X exm62329 1 55277590 [T/C] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_P202S,Missense_P202S exm62331 1 55277599 [T/C] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_Y205H,Missense_Y205H exm62339 1 55277818 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_G240S,Missense_G240S rs616315 1 55278841 [A/G] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent newrs76967836 1 55279486 [A/G] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent exm62346 1 55279601 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_T293A,Missense_T293A exm62347 1 55279641 [T/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_R306L,Missense_R306L exm62352 1 55280690 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_C343Y,Missense_C343Y rs630895 1 55281991 [A/G] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent exm1834456 1 55282680 [T/C] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_R357C,Missense_R357C exm62353 1 55282719 [T/C] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_R370W,Missense_R370W exm62355 1 55282731 [C/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_R374G,Missense_R374G rs4926659 1 55294722 [T/C] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent rs141014 1 55299139 [T/C] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent rs682615 1 55301220 [T/C] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent rs1544908 1 55302719 [A/C] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent exm2264839 1 55304970 [A/G] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent exm62364 1 55307307 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Silent,Nonsense_W401X newrs147428017 1 55307307 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Silent,Nonsense_W401X exm62367 1 55307332 [T/G] NM_001110533,NM_152607 LEXM,LEXM EXON Silent,Missense_G410C exm62368 1 55307347 [T/G] NM_001110533,NM_152607 LEXM,LEXM EXON Silent,Missense_X415E indel.3707 1 55307524 [I/D] NM_001110533,NM_152607 LEXM,LEXM EXON rs12026851 1 55308221 [T/C] rs642998 1 55309354 [A/G] rs687912 1 55312440 [T/C] rs7374 1 55316322 [A/G] NM_014762 DHCR24 EXON Silent exm62377 1 55317935 [T/C] NM_014762 DHCR24 EXON Missense_D508N exm62387 1 55319120 [A/G] NM_014762 DHCR24 EXON Missense_R462C rs718265 1 55319902 [A/G] NM_014762 DHCR24 EXON Synonymous_I342I exm-rs718265 1 55319902 [A/G] NM_014762 DHCR24 EXON Synonymous_I342I rs642737 1 55333453 [A/G] NM_014762 DHCR24 Silent exm62419 1 55337162 [T/C] NM_014762 DHCR24 EXON Missense_R246Q exm62420 1 55337163 [A/G] NM_014762 DHCR24 EXON Missense_R246W exm62421 1 55337168 [A/G] NM_014762 DHCR24 EXON Missense_P244L exm62427 1 55337283 [T/C] NM_014762 DHCR24 EXON Missense_E206K rs7551288 1 55338679 [A/G] NM_014762 DHCR24 Silent rs6686859 1 55339086 [T/C] NM_014762 DHCR24 Silent exm62433 1 55341645 [T/C] NM_014762 DHCR24 EXON Missense_V155M rs638944 1 55341915 [T/G] NM_014762 DHCR24 Silent exm62445 1 55349442 [T/C] NM_014762 DHCR24 EXON Missense_R79Q rs4927176 1 55354335 [T/C] rs678358 1 55387637 [T/G] rs35526112 1 55391268 [T/C] rs2114580 1 55394648 [A/G] rs604778 1 55397406 [T/C] rs7549203 1 55413361 [A/C] rs12016659 1 55416775 [T/C] rs2114574 1 55422254 [T/C] rs6588539 1 55424178 [A/G] rs7531509 1 55432798 [A/G] rs2317951 1 55434648 [A/G] rs2059688 1 55445123 [A/G] rs2253466 1 55446671 [T/C] NM_182532 TMEM61 EXON Silent exm62465 1 55451770 [A/G] NM_182532 TMEM61 EXON Missense_M6V exm62470 1 55451860 [A/G] NM_182532 TMEM61 EXON Missense_A36T exm62472 1 55451872 [A/G] NM_182532 TMEM61 EXON Missense_E40K exm62474 1 55451968 [A/G] NM_182532 TMEM61 EXON Missense_V72I exm62480 1 55452019 [A/G] NM_182532 TMEM61 EXON Missense_V89I exm62487 1 55452053 [A/G] NM_182532 TMEM61 EXON Missense_D100G exm62493 1 55457586 [A/C] NM_182532 TMEM61 EXON Missense_P148H exm62495 1 55457594 [T/C] NM_182532 TMEM61 EXON Missense_P151S exm1834670 1 55457687 [G/C] NM_182532 TMEM61 EXON Missense_L182V exm62510 1 55457762 [T/C] NM_182532 TMEM61 EXON Missense_R207W rs2495513 1 55457815 [T/C] NM_182532 TMEM61 EXON Silent exm2268890 1 55462380 [T/C] rs2500340 1 55464743 [T/C] NM_057176 BSND EXON Silent exm1834698 1 55464948 [A/G] NM_057176 BSND EXON Missense_R30Q exm62529 1 55464986 [A/G] NM_057176 BSND EXON Missense_V43I rs759914 1 55465594 [T/G] NM_057176 BSND Silent rs9662946 1 55471468 [T/C] NM_057176 BSND Silent rs4927186 1 55472365 [A/G] NM_057176 BSND Silent exm62540 1 55472706 [C/G] NM_057176 BSND EXON Missense_E103D exm62546 1 55472854 [A/G] NM_057176 BSND EXON Missense_D153N exm62549 1 55472923 [T/C] NM_057176 BSND EXON Missense_R176C exm1834718 1 55473985 [A/G] NM_057176 BSND EXON Missense_H216R exm62561 1 55474053 [T/C] NM_057176 BSND EXON Nonsense_Q239X exm62566 1 55474101 [C/G] NM_057176 BSND EXON Missense_E255Q exm62568 1 55474144 [A/G] NM_057176 BSND EXON Missense_R269Q exm62573 1 55474189 [A/G] NM_057176 BSND EXON Missense_G284D exm62574 1 55474210 [A/G] NM_057176 BSND EXON Missense_E291G exm1834722 1 55474231 [A/G] NM_057176 BSND EXON Missense_G298E exm62575 1 55474255 [T/C] NM_057176 BSND EXON Missense_L306P rs6682884 1 55474325 [A/C] NM_057176 BSND EXON Silent rs2495508 1 55478678 [T/G] rs2479394 1 55486064 [A/G] rs2495499 1 55494682 [T/C] exm-rs11206510 1 55496039 [T/C] rs2182833 1 55500429 [A/G] exm-rs2479409 1 55504650 [A/G] exm62588 1 55505647 [T/G] NM_174936 PCSK9 EXON Missense_R46L exm62590 1 55505668 [T/C] NM_174936 PCSK9 EXON Missense_A53V exm62591 1 55505679 [A/G] NM_174936 PCSK9 EXON Missense_E57K exm62598 1 55509585 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R93C,Silent exm62606 1 55512222 [C/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Nonsense_Y142X,Silent exm62607 1 55512267 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_N157K,Silent rs499718 1 55512549 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent rs2495478 1 55512995 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent rs11206514 1 55516004 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent exm62616 1 55517952 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_D175D,Silent exm62621 1 55518085 [T/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent rs2483205 1 55518316 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent exm2263347 1 55518371 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_G236S,Silent exm2252207 1 55518418 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_R251R,Silent exm62635 1 55518419 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_V252M,Silent exm62636 1 55518422 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_L253F,Silent rs693668 1 55521109 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent exm62641 1 55521701 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_P279T,Silent exm62642 1 55521713 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_L283M,Silent exm62652 1 55523076 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R357C,Silent exm62659 1 55523178 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_H391N,Silent exm62666 1 55523779 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_H417Q,Silent exm62667 1 55523802 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_N425S,Silent exm2263351 1 55523855 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_A443T,Silent exm62678 1 55524222 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R469W,Silent exm62679 1 55524237 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_V474I,Silent rs562556 1 55524237 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_V474I,Silent exm1834776 1 55524262 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_E482G,Silent exm62688 1 55524309 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_E498K,Silent rs568052 1 55524842 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent exm62698 1 55525301 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R549H,Silent exm62699 1 55525313 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_H553R,Silent exm62700 1 55525315 [G/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_Q554E,Silent exm2252208 1 55527217 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_A617A,Silent rs28362277 1 55527222 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_Q619P,Silent exm62708 1 55527222 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_Q619P,Silent exm62717 1 55529187 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_G670E,Silent exm62720 1 55529215 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Nonsense_C679X,Silent exm62722 1 55529228 [G/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_L684V,Silent exm62737 1 55541174 [A/G] NM_015306 USP24 EXON Missense_V2468A rs487230 1 55541174 [A/G] NM_015306 USP24 EXON Missense_V2468A exm62738 1 55541192 [A/G] NM_015306 USP24 EXON Missense_I2462T exm62742 1 55544228 [T/C] NM_015306 USP24 EXON Missense_M2433V exm2233624 1 55545230 [C/G] NM_015306 USP24 EXON Missense_G2394A exm62750 1 55545240 [T/C] NM_015306 USP24 EXON Missense_M2391V rs17111584 1 55546696 [T/C] NM_015306 USP24 Silent exm62756 1 55548949 [T/C] NM_015306 USP24 EXON Missense_N2324S exm62758 1 55548991 [T/C] NM_015306 USP24 EXON Missense_R2310Q exm2252210 1 55549014 [A/C] NM_015306 USP24 EXON Synonymous_L2302L exm62761 1 55549014 [A/C] NM_015306 USP24 EXON Synonymous_L2302L rs17111595 1 55556007 [T/C] NM_015306 USP24 Silent exm62781 1 55560999 [T/A] NM_015306 USP24 EXON Missense_D2044E exm62783 1 55561048 [T/C] NM_015306 USP24 EXON Missense_R2028H exm2252211 1 55563340 [T/C] NM_015306 USP24 EXON Synonymous_V1882V exm62792 1 55563340 [T/C] NM_015306 USP24 EXON Synonymous_V1882V exm62795 1 55563710 [C/G] NM_015306 USP24 EXON Missense_S1834C exm62802 1 55567338 [A/C] NM_015306 USP24 EXON Missense_F1688L exm62826 1 55590202 [A/G] NM_015306 USP24 EXON Missense_P1354S variant.3747 1 55591067 [A/G] NM_015306 USP24 EXON Nonsense_R1296X exm62833 1 55591172 [T/C] NM_015306 USP24 EXON Missense_T1261A exm62835 1 55591192 [A/G] NM_015306 USP24 EXON Missense_T1254M exm2233626 1 55591427 [T/C] NM_015306 USP24 EXON Missense_V1214I exm62843 1 55598218 [T/C] NM_015306 USP24 EXON Synonymous_E1179E variant.3749 1 55599838 [T/C] NM_015306 USP24 Silent variant.3750 1 55599996 [T/C] NM_015306 USP24 Silent exm62850 1 55600058 [A/G] NM_015306 USP24 EXON Missense_A1077V exm62853 1 55603229 [T/C] NM_015306 USP24 EXON Missense_S1054G rs1165226 1 55608005 [T/C] NM_015306 USP24 Silent exm62885 1 55613326 [T/C] NM_015306 USP24 EXON Missense_R705Q exm62889 1 55613380 [A/G] NM_015306 USP24 EXON Missense_A687V exm1835092 1 55622979 [C/G] NM_015306 USP24 EXON Missense_R431T exm62913 1 55624589 [A/C] NM_015306 USP24 EXON Missense_S397A exm62922 1 55625328 [T/C] NM_015306 USP24 EXON Missense_I342V rs1024305 1 55630204 [A/G] NM_015306 USP24 Silent exm62928 1 55631586 [T/C] NM_015306 USP24 EXON Missense_K300R exm62932 1 55638075 [A/G] NM_015306 USP24 EXON Missense_T226I exm62940 1 55643658 [T/C] NM_015306 USP24 EXON Missense_T158A rs6703366 1 55673420 [T/G] NM_015306 USP24 Silent exm62949 1 55680722 [A/G] NM_015306 USP24 EXON Missense_T22I rs11206524 1 55688016 [T/C] NR_146283 MIR4422HG Silent rs7550296 1 55696884 [T/C] NR_146283 MIR4422HG Silent rs4927205 1 55711465 [A/G] rs7516915 1 55711825 [A/G] rs4927207 1 55713628 [A/G] rs6684298 1 55717114 [T/G] rs7551981 1 55719166 [T/G] rs4926674 1 55727195 [T/C] rs6680729 1 55738797 [A/G] exm-rs12239436 1 55742837 [A/G] rs1874774 1 55743297 [T/G] rs9787299 1 55743352 [T/C] rs4927219 1 55751821 [A/G] rs6680609 1 55771636 [T/C] rs13353041 1 55773756 [A/G] rs12071251 1 55776971 [T/C] rs10888914 1 55786637 [T/C] rs2802884 1 55798691 [A/G] rs207164 1 55799770 [T/C] rs12146081 1 55806861 [A/C] rs207138 1 55811215 [T/C] rs880385 1 55820099 [T/G] rs7555489 1 55828641 [T/C] rs12141667 1 55832031 [A/G] rs910270 1 55833351 [A/G] rs7520205 1 55834309 [A/G] rs4926684 1 55852987 [A/G] rs761484 1 55862783 [T/C] rs2015252 1 55872780 [T/C] rs6588558 1 55884720 [T/C] rs4927235 1 55907494 [A/G] rs440336 1 55920490 [A/G] rs10888923 1 55930462 [A/G] rs987029 1 55931362 [A/G] rs769891 1 55932300 [A/G] rs4142664 1 55935941 [A/G] rs1499678 1 55939994 [T/C] rs7546894 1 55948307 [A/G] rs630446 1 55949987 [T/G] rs1165390 1 55966764 [A/C] rs1780522 1 55968289 [T/C] rs189593 1 55972596 [A/G] rs1695960 1 55983525 [A/G] rs1780541 1 55987794 [T/C] rs356081 1 55989646 [T/C] rs1078876 1 55989704 [A/G] rs6588561 1 55993095 [T/G] rs1392127 1 56015915 [T/C] rs9787362 1 56023333 [A/G] rs6588562 1 56027175 [A/G] exm2252228 1 56035952 [T/C] rs1566399 1 56038407 [T/C] rs4927255 1 56041961 [A/C] rs10493194 1 56054865 [A/C] rs6680818 1 56057691 [T/C] rs7526426 1 56059223 [T/C] rs4927258 1 56067651 [A/G] rs11807964 1 56068394 [T/C] rs1499665 1 56069516 [T/C] rs6704127 1 56070382 [A/C] rs7555929 1 56075918 [A/G] rs10749702 1 56078416 [T/C] rs709396 1 56087509 [T/C] rs709397 1 56090323 [T/C] rs6700588 1 56099371 [A/C] rs1392138 1 56101597 [T/C] rs12405865 1 56106506 [T/C] rs72669744 1 56116505 [T/C] rs7540786 1 56119747 [T/G] rs7518530 1 56143209 [A/G] rs2767503 1 56152725 [T/G] rs2767512 1 56158236 [A/G] rs1849680 1 56161430 [A/G] rs4927261 1 56161500 [T/C] rs2671245 1 56179614 [T/C] rs4111070 1 56195659 [A/G] rs1184810 1 56204848 [A/G] rs17112735 1 56207532 [T/C] rs1165500 1 56219293 [A/C] rs1165495 1 56222118 [A/G] rs749330 1 56240015 [T/C] rs12092608 1 56240702 [T/C] rs11577319 1 56243360 [A/G] rs4474302 1 56268037 [T/C] rs4367814 1 56269821 [T/C] rs12564526 1 56279686 [A/G] rs4512692 1 56287506 [A/G] rs12077235 1 56288116 [A/G] rs4540693 1 56325957 [A/C] rs9326038 1 56326293 [A/G] rs6657176 1 56328238 [T/G] rs17113019 1 56342433 [T/C] rs7516605 1 56343290 [A/C] rs6681658 1 56359597 [A/G] rs9803781 1 56359741 [T/C] rs17113092 1 56359754 [T/C] rs11800773 1 56382975 [T/C] NR_147162 LINC01753 Silent rs11206686 1 56394673 [A/G] NR_147162 LINC01753 Silent rs4573554 1 56398037 [T/C] NR_147162 LINC01753 Silent rs11206687 1 56401121 [T/C] NR_147162 LINC01753 Silent rs11206690 1 56407227 [A/G] NR_147162 LINC01753 Silent rs7540718 1 56420527 [T/G] rs12409063 1 56432184 [A/G] rs10489777 1 56439909 [A/C] rs11206704 1 56444449 [T/C] rs12029607 1 56446105 [T/C] exm2264840 1 56458937 [A/G] rs6677449 1 56458937 [A/G] rs17113288 1 56499478 [T/C] rs11206718 1 56502227 [A/G] rs11206722 1 56506564 [A/C] rs6702275 1 56545484 [A/C] rs7538626 1 56553835 [T/C] rs1412215 1 56562921 [A/G] rs12025982 1 56564716 [A/G] rs6588607 1 56586286 [T/G] rs10888957 1 56591630 [T/C] rs11206745 1 56598523 [T/C] rs778124 1 56606206 [A/G] rs1757915 1 56615809 [A/G] rs778129 1 56642082 [A/G] rs1331862 1 56642998 [T/C] rs778420 1 56647914 [T/G] rs1149648 1 56657399 [A/G] rs17113488 1 56666118 [A/G] rs778432 1 56666809 [A/G] rs7554047 1 56668472 [T/C] rs697582 1 56670460 [T/G] rs706375 1 56681024 [T/C] rs7547680 1 56687749 [A/C] rs706356 1 56694460 [A/C] rs12121243 1 56703833 [T/C] rs778413 1 56707637 [T/G] rs2793694 1 56715332 [T/C] rs2793662 1 56725516 [T/C] rs2793664 1 56728246 [A/G] rs2096086 1 56744527 [T/G] rs12755760 1 56754223 [A/C] rs2000141 1 56756491 [A/G] rs2793673 1 56756907 [T/C] rs2000144 1 56760616 [A/G] rs2994555 1 56783425 [A/G] rs2994553 1 56785889 [T/G] rs3005897 1 56786595 [T/C] rs12138574 1 56790773 [T/C] rs4912189 1 56792726 [T/C] rs3005911 1 56794965 [A/G] rs10159099 1 56800736 [A/G] rs4912413 1 56814694 [A/G] rs4600084 1 56844621 [T/G] rs6588624 1 56849539 [A/G] exm-rs11206801 1 56850686 [A/C] rs1931078 1 56870834 [A/G] rs2991265 1 56872357 [T/C] rs17469007 1 56872794 [T/G] rs12035812 1 56873274 [A/G] rs3005922 1 56873524 [A/G] rs17428956 1 56875043 [T/G] rs12093027 1 56885111 [T/C] rs7367993 1 56888166 [T/G] rs2780859 1 56895392 [A/C] rs12736058 1 56914341 [T/C] rs1889145 1 56915820 [A/G] rs7368386 1 56929525 [A/C] rs11206816 1 56932035 [A/G] rs4912291 1 56941387 [T/C] rs4638151 1 56955386 [T/C] rs11206830 1 56960123 [T/C] exm62980 1 56962264 [T/C] NM_003713 PLPP3 EXON Missense_V299M exm62982 1 56962311 [A/G] NM_003713 PLPP3 EXON Missense_T283M exm62986 1 56962339 [T/C] NM_003713 PLPP3 EXON Missense_V274M exm-rs17114036 1 56962821 [A/G] NM_003713 PLPP3 Silent exm-rs9970807 1 56965664 [T/C] NM_003713 PLPP3 Silent exm-rs17114046 1 56966350 [A/G] NM_003713 PLPP3 Silent rs4912314 1 56968477 [T/C] NM_003713 PLPP3 Silent rs1319274 1 56974091 [A/G] NM_003713 PLPP3 Silent exm62990 1 56977676 [A/G] NM_003713 PLPP3 EXON Missense_A261V exm62993 1 56977808 [T/C] NM_003713 PLPP3 EXON Missense_R217H rs12081589 1 56981625 [T/C] NM_003713 PLPP3 Silent exm63008 1 57002627 [T/C] NM_003713 PLPP3 EXON Synonymous_A99A exm1838386 1 57002628 [A/G] NM_003713 PLPP3 EXON Missense_A99V exm63009 1 57002644 [T/C] NM_003713 PLPP3 EXON Missense_V94I exm2268691 1 57007539 [T/C] NM_003713 PLPP3 Silent rs1930760 1 57007539 [T/C] NM_003713 PLPP3 Silent rs11206841 1 57016862 [T/C] NM_003713 PLPP3 Silent rs7553307 1 57022282 [T/G] NM_003713 PLPP3 Silent rs1777283 1 57024560 [A/G] NM_003713 PLPP3 Silent rs2065553 1 57036017 [T/C] NM_003713 PLPP3 Silent rs933001 1 57042335 [T/C] NM_003713 PLPP3 Silent rs7539051 1 57042954 [A/G] NM_003713 PLPP3 Silent rs17408450 1 57057316 [A/G] rs6663578 1 57068107 [T/C] rs12137489 1 57081328 [T/C] rs2404987 1 57088605 [T/C] rs2404990 1 57095904 [T/C] NR_135111 LOC101929935 Silent rs10889000 1 57100380 [A/G] NR_135111 LOC101929935 Silent rs11206884 1 57103362 [T/C] NR_135111 LOC101929935 Silent rs10749709 1 57114671 [T/C] NM_006252 PRKAA2 Silent rs11206887 1 57116909 [A/G] NM_006252 PRKAA2 Silent rs11206889 1 57117248 [T/C] NM_006252 PRKAA2 Silent rs2746347 1 57126919 [T/C] NM_006252 PRKAA2 Silent rs2746339 1 57139370 [A/G] NM_006252 PRKAA2 Silent rs2179761 1 57157544 [A/G] NM_006252 PRKAA2 Silent exm63033 1 57158052 [T/C] NM_006252 PRKAA2 EXON Missense_R118W variant.3754 1 57159485 [T/G] NM_006252 PRKAA2 EXON Nonsense_G175X exm63042 1 57161694 [A/T] NM_006252 PRKAA2 EXON Missense_E217V exm63053 1 57169921 [T/G] NM_006252 PRKAA2 EXON Missense_A356S rs932447 1 57170229 [T/C] NM_006252 PRKAA2 Silent variant.3757 1 57171892 [A/G] NM_006252 PRKAA2 Silent exm63069 1 57173352 [T/C] NM_006252 PRKAA2 EXON Missense_M542T rs857148 1 57175158 [A/C] NM_006252 PRKAA2 EXON Silent rs4912411 1 57177244 [A/C] NM_006252 PRKAA2 EXON Silent rs857147 1 57177789 [A/G] NM_006252 PRKAA2 EXON Silent rs9803799 1 57180072 [T/G] NM_006252 PRKAA2 EXON Silent rs706468 1 57181382 [A/G] variant.3758 1 57185353 [T/C] NM_001004303 FYB2 EXON Nonsense_W726X rs11206908 1 57191659 [T/G] NM_001004303 FYB2 Silent rs857138 1 57191924 [T/C] NM_001004303 FYB2 Silent variant.3766 1 57192252 [A/C] NM_001004303 FYB2 EXON Nonsense_E600X rs10489618 1 57192848 [A/G] NM_001004303 FYB2 Silent indel.3767 1 57202765 [D/I] NM_001004303 FYB2 EXON rs1935562 1 57203501 [T/C] NM_001004303 FYB2 Silent exm63104 1 57204316 [T/G] NM_001004303 FYB2 EXON Missense_I572L rs857124 1 57205595 [A/G] NM_001004303 FYB2 Silent exm63108 1 57206385 [A/G] NM_001004303 FYB2 EXON Missense_S563L variant.3769 1 57206470 [T/C] NM_001004303 FYB2 Silent newrs148260034 1 57207829 [T/C] NM_001004303 FYB2 Silent exm63118 1 57207874 [T/C] NM_001004303 FYB2 EXON Missense_E522K exm63119 1 57207896 [T/C] NM_001004303 FYB2 Silent exm63127 1 57209853 [G/C] NM_001004303 FYB2 EXON Missense_D492H newrs139281548 1 57209907 [A/C] NM_001004303 FYB2 EXON Nonsense_E474X exm63128 1 57209907 [A/C] NM_001004303 FYB2 EXON Nonsense_E474X exm63129 1 57209939 [T/C] NM_001004303 FYB2 EXON Missense_C463Y rs6666850 1 57215026 [T/C] NM_001004303 FYB2 Silent rs6696458 1 57216376 [A/G] NM_001004303 FYB2 Silent exm63130 1 57216747 [A/G] NM_001004303 FYB2 EXON Missense_P453S exm63133 1 57216786 [T/C] NM_001004303 FYB2 EXON Missense_M440V variant.3773 1 57216795 [A/G] NM_001004303 FYB2 EXON Nonsense_Q437X rs857111 1 57217116 [T/C] NM_001004303 FYB2 Silent exm63139 1 57219539 [A/C] NM_001004303 FYB2 EXON Missense_K400N rs2298127 1 57221878 [A/C] NM_001004303 FYB2 Silent rs857107 1 57222599 [T/C] NM_001004303 FYB2 Silent exm63150 1 57224387 [A/T] NM_001004303 FYB2 Silent variant.3777 1 57233502 [A/G] NM_001004303 FYB2 EXON Missense_P355S rs1935561 1 57234065 [A/G] NM_001004303 FYB2 Silent rs1557145 1 57241234 [T/C] NM_001004303 FYB2 Silent rs1774822 1 57246662 [T/C] NM_001004303 FYB2 Silent rs1569746 1 57246968 [A/G] NM_001004303 FYB2 Silent rs1774825 1 57249558 [A/C] NM_001004303 FYB2 Silent exm63155 1 57252848 [G/C] NM_001004303 FYB2 EXON Missense_R318T exm63156 1 57252868 [G/C] NM_001004303 FYB2 EXON Missense_E311D exm63160 1 57254697 [A/G] NM_001004303 FYB2 EXON Missense_L290F exm63162 1 57254729 [A/G] NM_001004303 FYB2 EXON Missense_P279L exm63164 1 57254733 [A/G] NM_001004303 FYB2 EXON Missense_P278S exm63166 1 57254757 [A/G] NM_001004303 FYB2 EXON Missense_P270S indel.3781 1 57254777 [D/I] NM_001004303 FYB2 EXON exm63168 1 57257735 [A/C] NM_001004303 FYB2 EXON Missense_A251S exm63169 1 57257778 [C/G] NM_001004303 FYB2 EXON Missense_S236R variant.3785 1 57257978 [A/C] NM_001004303 FYB2 EXON Nonsense_E170X exm63182 1 57258111 [G/C] NM_001004303 FYB2 EXON Missense_I125M indel.3786 1 57258131 [D/I] NM_001004303 FYB2 EXON exm63185 1 57258182 [T/C] NM_001004303 FYB2 EXON Missense_V102I exm63190 1 57258313 [T/C] NM_001004303 FYB2 EXON Missense_N58S exm63192 1 57258320 [A/G] NM_001004303 FYB2 EXON Missense_S56P rs1361730 1 57267946 [T/C] NM_001004303 FYB2 Silent rs947639 1 57273172 [T/C] NM_001004303 FYB2 Silent rs6673223 1 57282318 [T/G] NM_001004303 FYB2 Silent exm63199 1 57284960 [C/G] NM_001004303 FYB2 EXON Missense_E2Q rs1418440 1 57290659 [T/G] rs1033729 1 57316268 [T/C] rs647962 1 57318178 [T/C] exm2233631 1 57320444 [A/G] NM_000562 C8A EXON Silent exm1839082 1 57320600 [T/C] NM_000562 C8A EXON Missense_L9S exm63203 1 57333293 [A/G] NM_000562 C8A EXON Missense_R30Q exm63204 1 57333304 [T/C] NM_000562 C8A EXON Missense_P34S exm63206 1 57333311 [A/C] NM_000562 C8A EXON Missense_A36E variant.3787 1 57333336 [A/G] NM_000562 C8A EXON Nonsense_W44X variant.3788 1 57333376 [T/G] NM_000562 C8A Silent rs706473 1 57339034 [A/G] NM_000562 C8A Silent rs1885002 1 57340381 [A/G] NM_000562 C8A Silent exm63213 1 57340632 [A/G] NM_000562 C8A EXON Missense_R61Q exm63220 1 57340727 [A/C] NM_000562 C8A EXON Missense_Q93K exm63223 1 57341737 [T/C] NM_000562 C8A EXON Missense_R107C exm63233 1 57347189 [T/C] NM_000562 C8A EXON Missense_T179M rs10489624 1 57349614 [T/C] NM_000562 C8A Silent exm63259 1 57351704 [T/G] NM_000562 C8A EXON Missense_E320D indel.3791 1 57351823 [D/I] NM_000562 C8A EXON exm63264 1 57372463 [T/C] NM_000562 C8A EXON Missense_T407I variant.3792 1 57372466 [A/G] NM_000562 C8A Silent exm63273 1 57373737 [A/G] NM_000562 C8A EXON Missense_R444H exm63276 1 57373778 [A/G] NM_000562 C8A EXON Missense_D458N exm63280 1 57378119 [G/C] NM_000562 C8A EXON Missense_P475R indel.3794 1 57378209 [I/D] NM_000562 C8A EXON exm63293 1 57378223 [T/C] NM_000562 C8A EXON Missense_L510F rs11206934 1 57379401 [T/C] NM_000562 C8A Silent rs1754538 1 57379639 [T/C] NM_000562 C8A Silent exm1839256 1 57383288 [A/G] NM_000562 C8A EXON Missense_R552G exm63300 1 57383295 [A/G] NM_000562 C8A EXON Missense_G554D exm63302 1 57383315 [C/G] NM_000562 C8A EXON Missense_E561Q exm63307 1 57383357 [T/C] NM_000562 C8A EXON Missense_P575S exm63308 1 57383358 [T/C] NM_000562 C8A EXON Missense_P575L exm63310 1 57383376 [T/C] NM_000562 C8A EXON Missense_T581M rs2149735 1 57389872 [T/G] exm63319 1 57395114 [A/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_C580F,Missense_C518F,Missense_C528F exm2233633 1 57395130 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_N575D,Missense_N513D,Missense_N523D rs591730 1 57396014 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent exm63327 1 57397497 [A/T] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_V536D,Missense_V474D,Missense_V484D exm1839344 1 57406565 [G/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_W452S,Missense_W390S,Missense_W400S exm63335 1 57406586 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_T445M,Missense_T383M,Missense_T393M exm63338 1 57406637 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_R428Q,Missense_R366Q,Missense_R376Q exm63339 1 57406638 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Nonsense_R428X,Nonsense_R366X,Nonsense_R376X exm63348 1 57409459 [A/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_D382Y,Missense_D320Y,Missense_D330Y exm63350 1 57411524 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_V359I,Missense_V297I,Missense_V307I exm63359 1 57411632 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_R323W,Missense_R261W,Missense_R271W exm63360 1 57411642 [G/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_Q319H,Missense_Q257H,Missense_Q267H exm63366 1 57411713 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_R296C,Missense_R234C,Missense_R244C rs582317 1 57413768 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent variant.3798 1 57415242 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Nonsense_R284X,Nonsense_R222X,Nonsense_R232X exm63372 1 57415263 [G/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_H277D,Missense_H215D,Missense_H225D exm63376 1 57415310 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_P261L,Missense_P199L,Missense_P209L exm63379 1 57415368 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_R242C,Missense_R180C,Missense_R190C rs658285 1 57416335 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent rs1960384 1 57417592 [A/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent exm63388 1 57417782 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_P202L,Missense_P140L,Missense_P150L exm63393 1 57417833 [C/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_S185T,Missense_S123T,Missense_S133T exm63397 1 57420448 [G/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_D148E,Missense_D86E,Missense_D96E rs620092 1 57421166 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent newrs150022116 1 57422472 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Nonsense_R121X,Nonsense_R59X,Nonsense_R69X exm63405 1 57422484 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_G117R,Missense_G55R,Missense_G65R exm63406 1 57422511 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_E108K,Missense_E46K,Missense_E56K exm63410 1 57422562 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Nonsense_Q91X,Nonsense_Q29X,Nonsense_Q39X exm1839402 1 57422576 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_Y86C,Missense_Y24C,Missense_Y34C exm63414 1 57425730 [G/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_S71C,Silent,Missense_S19C exm63417 1 57425778 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_S55N,Silent,Missense_S3N indel.3803 1 57425789 [D/I] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON exm63418 1 57425792 [C/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_S50R,Silent,Silent exm63419 1 57425810 [G/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_N44K,Silent,Silent rs600876 1 57428866 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent indel.3804 1 57431548 [I/D] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON variant.3805 1 57431595 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Nonsense_W9X,Silent,Silent exm1839462 1 57431601 [A/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_W7C,Silent,Silent rs1754511 1 57438919 [A/G] rs1623113 1 57441363 [A/G] exm63427 1 57476376 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_G554C,Missense_G554C,Missense_G552C,Missense_G554C 1KG_1_57476862 1 57476862 [I/D] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON exm63453 1 57480822 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_T393M,Missense_T393M,Missense_T391M,Missense_T393M rs706353 1 57485219 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent exm63470 1 57489225 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_G292S,Missense_G292S,Missense_G290S,Missense_G292S exm63472 1 57489239 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_S287N,Missense_S287N,Missense_S285N,Missense_S287N exm63473 1 57489261 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_P280S,Missense_P280S,Missense_P278S,Missense_P280S newrs138352976 1 57491654 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Synonymous_P262P,Synonymous_P262P,Synonymous_P260P,Synonymous_P262P rs3820578 1 57517439 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent exm63486 1 57528562 [C/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_V240L,Missense_V240L,Silent,Missense_V240L exm63487 1 57528609 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_T224I,Missense_T224I,Missense_T224I,Missense_T224I exm63489 1 57535052 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_T215M,Missense_T215M,Missense_T215M,Missense_T215M rs6657073 1 57537652 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent exm1840143 1 57538076 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_H106Q,Missense_H106Q,Missense_H106Q,Missense_H106Q rs3768190 1 57540909 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs3729546 1 57541619 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs517412 1 57560649 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs573307 1 57560931 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs482373 1 57562190 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs11206973 1 57568923 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs561503 1 57571980 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs489049 1 57575069 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs534080 1 57584721 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent exm63507 1 57602311 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_V71I,Missense_V71I,Missense_V71I,Missense_V71I rs563921 1 57602383 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent exm2260473 1 57610673 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 EXON Silent,Silent,Silent,Silent,Silent newrs148293352 1 57610963 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 EXON Synonymous_K69K,Synonymous_K69K,Synonymous_K69K,Synonymous_K69K,Synonymous_K69K rs6670988 1 57629549 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs7530049 1 57641475 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs10489464 1 57643701 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs1504589 1 57645301 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs9970802 1 57646661 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs155298 1 57656501 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs688382 1 57659614 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs932508 1 57665337 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs197614 1 57665590 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs1847537 1 57666901 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs155284 1 57674906 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs502350 1 57677559 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs197603 1 57679608 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs197617 1 57685971 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs657471 1 57697059 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs169100 1 57704356 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs12132898 1 57721731 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs197644 1 57722095 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs197636 1 57726537 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs2551484 1 57734544 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs584147 1 57737411 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs596784 1 57744259 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs492781 1 57749426 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs595513 1 57756980 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent exm2264841 1 57760458 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs12564258 1 57771854 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs746937 1 57784144 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs4912163 1 57800885 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs11207011 1 57803349 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent exm-rs10159302 1 57805550 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs12139429 1 57812260 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs11800574 1 57814771 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs1424465 1 57820539 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs10047071 1 57841662 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs3909556 1 57846985 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs11805025 1 57850717 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs486804 1 57858319 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs17115750 1 57869430 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs7523104 1 57892924 [T/A] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs11207036 1 57904853 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2781321 1 57909581 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs4279875 1 57917398 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17115807 1 57921505 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs11207039 1 57923439 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2406067 1 57933076 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent exm-rs12407896 1 57933955 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs9436131 1 57945943 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2691465 1 57956702 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent exm2268892 1 57956702 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6700225 1 57961103 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1341318 1 57962373 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2691437 1 57975111 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1357787 1 57992413 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2793626 1 57996397 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1524713 1 58003131 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2691444 1 58004009 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2691447 1 58010227 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12733015 1 58019733 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6687355 1 58021206 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs10493230 1 58050139 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs947241 1 58051166 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs11207070 1 58058589 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs7528953 1 58068119 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1341322 1 58079143 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs10789050 1 58084162 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1983454 1 58096379 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs7531119 1 58104110 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs4484949 1 58111045 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs10889061 1 58121100 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6672391 1 58124563 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs4244011 1 58129636 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs4568858 1 58139294 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs3131754 1 58143696 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs3131780 1 58170218 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs716417 1 58178715 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12136964 1 58181165 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs3118024 1 58186694 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1886139 1 58202297 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs4912173 1 58208267 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs3118045 1 58209883 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs10889070 1 58214656 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs3131741 1 58227195 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17472345 1 58228412 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs3118058 1 58234014 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs3131743 1 58234133 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1924267 1 58247772 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1581762 1 58251060 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1323836 1 58256909 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6704346 1 58263621 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12140411 1 58272916 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs852749 1 58280509 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs706411 1 58292621 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs706412 1 58317833 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6695286 1 58319229 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs852802 1 58323943 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1202822 1 58346207 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6670853 1 58352715 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1202829 1 58355969 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12402927 1 58363656 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6679454 1 58367236 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1202844 1 58368541 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent exm2268693 1 58368541 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1202794 1 58372040 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1884487 1 58375966 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1202802 1 58376247 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1202780 1 58394752 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1202769 1 58398753 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1857380 1 58403623 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1202788 1 58414715 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1343635 1 58431135 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs7532719 1 58432755 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17116586 1 58436351 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2764669 1 58448771 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1187988 1 58466016 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1325449 1 58471091 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17116712 1 58480921 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs11207153 1 58482029 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1952046 1 58482341 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1188003 1 58484869 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1325453 1 58488601 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1325454 1 58488751 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs4110981 1 58512049 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs11808372 1 58519672 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs11591081 1 58520500 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs11207160 1 58520774 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs10443242 1 58526235 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2025617 1 58526854 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6657936 1 58528820 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6698482 1 58531627 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2764687 1 58544805 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs873989 1 58556598 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1320555 1 58561954 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12085768 1 58566422 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1416347 1 58574925 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1416346 1 58575317 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1342876 1 58578612 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17116983 1 58591848 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent exm-rs558475 1 58601866 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17116988 1 58602197 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6667829 1 58610928 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2806399 1 58617269 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs515683 1 58648969 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs7524008 1 58666076 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs7545320 1 58668913 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs572888 1 58674799 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs553133 1 58700416 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs614373 1 58714427 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12132541 1 58722463 [A/G] rs639241 1 58725716 [A/G] rs555213 1 58726579 [A/G] rs574802 1 58730127 [T/C] rs10493248 1 58730778 [A/G] rs689231 1 58742150 [A/G] rs17117233 1 58743154 [T/C] rs4912316 1 58743499 [A/G] exm-rs527409 1 58757915 [T/C] rs10493242 1 58783763 [T/C] rs10493240 1 58784150 [T/G] rs12726314 1 58792030 [T/C] rs1213640 1 58794017 [A/C] rs1213646 1 58802060 [T/C] rs2794651 1 58807475 [T/G] rs6686674 1 58811791 [A/G] rs4244014 1 58819774 [T/C] rs1318371 1 58821318 [A/G] rs11207206 1 58824988 [A/G] rs17496442 1 58825601 [A/C] rs6695605 1 58827079 [A/G] rs12404972 1 58829981 [A/C] rs11580545 1 58838246 [A/G] rs338941 1 58851991 [T/C] rs338935 1 58853893 [T/G] exm2252354 1 58855299 [T/C] rs849492 1 58857598 [A/C] rs338934 1 58857666 [A/G] rs10465839 1 58872522 [T/C] rs338911 1 58873906 [T/G] rs338905 1 58875644 [A/G] rs11207224 1 58877966 [T/C] rs706416 1 58884192 [A/G] rs706417 1 58885233 [T/C] rs849469 1 58894050 [T/C] rs706428 1 58902488 [T/C] rs706439 1 58908819 [T/C] rs706444 1 58910442 [A/G] rs706445 1 58911040 [A/C] exm2268893 1 58913654 [T/C] exm-rs10889092 1 58915024 [T/C] rs822165 1 58916818 [A/G] rs849479 1 58918842 [A/G] rs706454 1 58919090 [A/G] rs697587 1 58923511 [A/G] rs12040053 1 58926395 [T/G] rs338248 1 58931305 [A/C] rs697590 1 58933274 [T/C] exm63540 1 58946647 [A/G] NM_145243 OMA1 EXON Missense_T522M exm63542 1 58946710 [A/G] NM_145243 OMA1 EXON Missense_M501T indel.3812 1 58946828 [D/I] NM_145243 OMA1 EXON rs10489815 1 58949510 [A/C] NM_145243 OMA1 Silent exm63549 1 58971748 [A/T] NM_145243 OMA1 EXON Missense_D450V rs3087585 1 58971831 [A/G] NM_145243 OMA1 EXON Synonymous_F422F rs11581844 1 58974163 [T/C] NM_145243 OMA1 Silent rs6656025 1 58978397 [T/C] NM_145243 OMA1 Silent rs2271004 1 58996203 [T/C] NM_145243 OMA1 Silent exm63562 1 58996320 [A/C] NM_145243 OMA1 EXON Missense_D365Y exm63569 1 58999651 [T/G] NM_145243 OMA1 EXON Missense_I329L rs17117678 1 58999651 [T/G] NM_145243 OMA1 EXON Missense_I329L exm63575 1 58999853 [T/C] NM_145243 OMA1 EXON Missense_I294V exm63576 1 58999882 [T/C] NM_145243 OMA1 EXON Missense_N284S exm63579 1 58999918 [T/C] NM_145243 OMA1 EXON Missense_E272G exm63582 1 58999978 [A/G] NM_145243 OMA1 EXON Missense_M252T variant.3813 1 59000005 [T/C] NM_145243 OMA1 Silent exm63585 1 59002200 [T/G] NM_145243 OMA1 EXON Missense_E238D exm63591 1 59002282 [A/C] NM_145243 OMA1 EXON Missense_F211C exm63597 1 59002375 [T/C] NM_145243 OMA1 EXON Missense_K180R exm63610 1 59004602 [A/C] NM_145243 OMA1 EXON Missense_L122W exm63612 1 59004617 [A/G] NM_145243 OMA1 EXON Missense_P117L exm63613 1 59004762 [A/G] NM_145243 OMA1 EXON Missense_H69Y exm63614 1 59004766 [T/G] NM_145243 OMA1 EXON Missense_N67K exm63616 1 59004804 [T/C] NM_145243 OMA1 EXON Missense_V55I exm63619 1 59004873 [T/C] NM_145243 OMA1 EXON Missense_A32T exm1843394 1 59004894 [A/G] NM_145243 OMA1 EXON Missense_W25R indel.3819 1 59004965 [I/D] NM_145243 OMA1 EXON rs659061 1 59024435 [A/G] exm63630 1 59041930 [T/C] NM_002353 TACSTD2 EXON Missense_R300Q exm63631 1 59041940 [T/C] NM_002353 TACSTD2 EXON Missense_I297V exm63635 1 59042017 [T/C] NM_002353 TACSTD2 EXON Missense_K271R exm63653 1 59042181 [T/G] NM_002353 TACSTD2 EXON Missense_D216E exm63660 1 59042311 [T/G] NM_002353 TACSTD2 EXON Missense_D173A exm63665 1 59042425 [A/C] NM_002353 TACSTD2 EXON Missense_R135L rs232828 1 59047175 [T/C] rs12756352 1 59056198 [T/G] rs6664314 1 59056326 [T/C] rs6587830 1 59057933 [T/C] rs12745094 1 59075102 [T/C] rs232812 1 59079248 [T/C] rs170827 1 59081533 [T/G] rs2073094 1 59086221 [T/C] rs232915 1 59098228 [T/C] rs11207282 1 59114438 [A/G] rs232851 1 59122871 [T/C] NM_001085487 MYSM1 EXON Silent exm63675 1 59125683 [T/C] NM_001085487 MYSM1 EXON Missense_E825K rs7523134 1 59127086 [A/G] NM_001085487 MYSM1 EXON Synonymous_L754L exm63687 1 59131171 [A/G] NM_001085487 MYSM1 EXON Missense_R722C rs232790 1 59131311 [T/G] NM_001085487 MYSM1 Silent variant.3822 1 59132739 [A/G] NM_001085487 MYSM1 EXON Nonsense_R668X exm63705 1 59134708 [A/G] NM_001085487 MYSM1 EXON Missense_S555L rs678283 1 59137456 [T/C] NM_001085487 MYSM1 Silent exm63707 1 59137623 [A/G] NM_001085487 MYSM1 EXON Missense_S527F variant.3823 1 59142596 [A/G] NM_001085487 MYSM1 Silent exm63718 1 59142603 [C/G] NM_001085487 MYSM1 EXON Missense_G462A exm63726 1 59147497 [C/G] NM_001085487 MYSM1 EXON Missense_E407Q exm63727 1 59147514 [T/C] NM_001085487 MYSM1 EXON Missense_R401H exm63739 1 59147799 [T/G] NM_001085487 MYSM1 EXON Missense_K306T indel.3824 1 59147811 [I/D] NM_001085487 MYSM1 EXON exm63742 1 59147851 [A/G] NM_001085487 MYSM1 EXON Missense_L289F exm63744 1 59147926 [T/C] NM_001085487 MYSM1 EXON Missense_T264A rs12139511 1 59147926 [T/C] NM_001085487 MYSM1 EXON Missense_T264A exm63747 1 59147962 [T/G] NM_001085487 MYSM1 EXON Missense_S252R exm63749 1 59148002 [A/C] NM_001085487 MYSM1 EXON Missense_Q238H exm63753 1 59148118 [T/A] NM_001085487 MYSM1 EXON Missense_C200S exm63755 1 59148136 [T/C] NM_001085487 MYSM1 EXON Missense_K194E var_1_59150911 1 59150911 [A/G] NM_001085487 MYSM1 EXON Nonsense_R138X exm63770 1 59156090 [T/C] NM_001085487 MYSM1 Silent variant.3828 1 59158533 [T/C] NM_001085487 MYSM1 EXON Missense_E73G exm-rs2811893 1 59162148 [T/C] NM_001085487 MYSM1 Silent rs4912202 1 59174026 [A/G] rs12073211 1 59175142 [T/C] rs11583201 1 59186777 [A/G] rs2760480 1 59203121 [T/C] rs1969772 1 59205102 [A/G] rs12137541 1 59209416 [A/G] rs2811876 1 59215791 [A/G] rs10889118 1 59221647 [T/C] rs2811883 1 59230228 [T/C] rs1007271 1 59231160 [A/G] rs12738233 1 59240954 [A/G] rs1980700 1 59244792 [A/G] 1KG_1_59248649 1 59248649 [D/I] NM_002228 JUN EXON exm2268894 1 59251097 [T/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs11207306 1 59258879 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs2999134 1 59277926 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs1815274 1 59301218 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs942124 1 59304910 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs9436174 1 59321745 [A/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent exm-rs4601609 1 59325626 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs12038856 1 59326496 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs12133457 1 59330763 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs2716129 1 59342968 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs11207322 1 59352323 [A/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs2716107 1 59353441 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs12117564 1 59355900 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent exm2268695 1 59368947 [T/G] rs17096897 1 59379043 [A/G] rs2764914 1 59395523 [A/G] rs6664131 1 59396262 [A/C] rs2764928 1 59422789 [T/G] rs3949912 1 59423103 [A/G] rs2764933 1 59435778 [T/C] rs2716128 1 59438203 [A/G] rs6661726 1 59443353 [A/G] rs2764900 1 59466192 [A/G] rs11207367 1 59470439 [A/G] rs1812402 1 59474027 [T/C] rs2716121 1 59474554 [T/C] kgp8277711 1 59478801 [A/G] rs6687397 1 59526466 [A/G] NR_110626 LINC01358 Silent rs10789073 1 59526860 [T/C] NR_110626 LINC01358 Silent rs12733019 1 59531321 [A/G] NR_110626 LINC01358 Silent rs4128414 1 59533996 [A/C] NR_110626 LINC01358 Silent rs7536474 1 59537214 [A/G] NR_110626 LINC01358 Silent rs4424536 1 59544435 [A/G] NR_110626 LINC01358 Silent rs3010323 1 59567263 [T/C] rs3010325 1 59569829 [T/C] rs1331746 1 59578785 [T/C] rs2985500 1 59588984 [T/C] rs182816 1 59601907 [T/C] NR_027120 HSD52 Silent rs4912389 1 59603757 [A/G] NR_027120 HSD52 Silent rs474103 1 59619571 [T/G] rs17118917 1 59623170 [A/G] rs615743 1 59623181 [T/G] rs12139438 1 59630555 [T/C] rs3850542 1 59635870 [A/C] rs11207416 1 59642102 [A/G] rs3850543 1 59653630 [A/G] rs12753566 1 59654019 [T/C] rs17119044 1 59655643 [A/C] rs17119061 1 59660903 [A/C] rs331635 1 59665542 [A/G] rs10493258 1 59665770 [A/G] rs12758288 1 59669708 [T/C] rs7540474 1 59693470 [T/G] rs6700125 1 59702797 [T/C] rs6703534 1 59703738 [T/C] rs7547161 1 59704822 [A/G] rs17119139 1 59707863 [T/G] rs6683082 1 59708325 [A/G] rs1470407 1 59714992 [T/C] rs11207432 1 59715273 [A/G] rs17119164 1 59716214 [A/C] exm2252401 1 59734367 [T/C] rs863123 1 59754855 [T/C] rs835365 1 59757049 [T/C] rs835401 1 59782017 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17480358 1 59787205 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm63817 1 59787270 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Silent,Silent,Silent,Silent,Missense_V17I,Missense_V17I,Missense_V17I,Silent,Silent,Missense_V17I,Missense_V17I,Silent,Missense_V17I,Missense_V17I exm63819 1 59787350 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Silent,Silent,Silent,Silent,Missense_N43K,Missense_N43K,Missense_N43K,Silent,Silent,Missense_N43K,Missense_N43K,Silent,Missense_N43K,Missense_N43K exm63821 1 59787409 [G/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Silent,Silent,Silent,Silent,Missense_C63S,Missense_C63S,Missense_C63S,Silent,Silent,Missense_C63S,Missense_C63S,Silent,Missense_C63S,Missense_C63S exm63822 1 59787414 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Silent,Silent,Silent,Silent,Missense_V65I,Missense_V65I,Missense_V65I,Silent,Silent,Missense_V65I,Missense_V65I,Silent,Missense_V65I,Missense_V65I variant.3833 1 59787423 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9787234 1 59796808 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs17119280 1 59799161 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.3834 1 59811930 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Nonsense_R53X,Silent,Silent,Silent,Nonsense_R109X,Silent,Nonsense_R109X,Silent,Nonsense_R53X,Silent,Nonsense_R109X,Silent,Nonsense_R109X,Nonsense_R109X rs835361 1 59814228 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7539697 1 59832762 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs949827 1 59841785 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2233644 1 59844449 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_A109V,Missense_A53V,Missense_A53V,Missense_A31V,Missense_A165V,Missense_A77V,Missense_A165V,Silent,Missense_A109V,Missense_A77V,Missense_A165V,Missense_A53V,Missense_A165V,Missense_A165V exm63835 1 59844459 [C/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_F112L,Missense_F56L,Missense_F56L,Missense_F34L,Missense_F168L,Missense_F80L,Missense_F168L,Silent,Missense_F112L,Missense_F80L,Missense_F168L,Missense_F56L,Missense_F168L,Missense_F168L exm63839 1 59844503 [C/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_T127R,Missense_T71R,Missense_T71R,Missense_T49R,Missense_T183R,Missense_T95R,Missense_T183R,Silent,Missense_T127R,Missense_T95R,Missense_T183R,Missense_T71R,Missense_T183R,Missense_T183R rs835426 1 59860445 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs628177 1 59869604 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17119406 1 59869751 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11576871 1 59875451 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7520470 1 59891821 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs946574 1 59892655 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1416788 1 59894323 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4912396 1 59901944 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm63845 1 59922649 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_V135M,Missense_V79M,Missense_V79M,Missense_V57M,Missense_V191M,Missense_V103M,Missense_V191M,Silent,Missense_V135M,Missense_V103M,Missense_V191M,Missense_V79M,Missense_V191M,Missense_V191M var_1_59922715 1 59922715 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Nonsense_E157X,Nonsense_E101X,Nonsense_E101X,Nonsense_E79X,Nonsense_E213X,Nonsense_E125X,Nonsense_E213X,Silent,Nonsense_E157X,Nonsense_E125X,Nonsense_E213X,Nonsense_E101X,Nonsense_E213X,Nonsense_E213X rs7550493 1 59936154 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2407515 1 59936406 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6663897 1 59940664 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs626733 1 59946350 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1188236 1 59951705 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs592484 1 59969263 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm63851 1 59978048 [G/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_L190V,Missense_L134V,Missense_L134V,Missense_L112V,Missense_L246V,Missense_L158V,Missense_L246V,Silent,Missense_L190V,Missense_L158V,Missense_L246V,Missense_L134V,Missense_L246V,Missense_L246V exm63852 1 59978070 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_A197V,Missense_A141V,Missense_A141V,Missense_A119V,Missense_A253V,Missense_A165V,Missense_A253V,Silent,Missense_A197V,Missense_A165V,Missense_A253V,Missense_A141V,Missense_A253V,Missense_A253V rs6692151 1 59992986 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7527689 1 60006785 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11811141 1 60007658 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2272052 1 60019782 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm63856 1 60019796 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_G211V,Missense_G155V,Missense_G155V,Missense_G133V,Missense_G267V,Missense_G179V,Missense_G267V,Silent,Missense_G211V,Missense_G179V,Missense_G267V,Missense_G155V,Missense_G267V,Missense_G267V,Silent exm63860 1 60019853 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_T230M,Missense_T174M,Missense_T174M,Missense_T152M,Missense_T286M,Missense_T198M,Missense_T286M,Silent,Missense_T230M,Missense_T198M,Missense_T286M,Missense_T174M,Missense_T286M,Missense_T286M,Silent exm63866 1 60019898 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_G245V,Missense_G189V,Missense_G189V,Missense_G167V,Missense_G301V,Missense_G213V,Missense_G301V,Silent,Missense_G245V,Missense_G213V,Missense_G301V,Missense_G189V,Missense_G301V,Missense_G301V,Missense_G2V exm63867 1 60019899 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Synonymous_G245G,Synonymous_G189G,Synonymous_G189G,Synonymous_G167G,Synonymous_G301G,Synonymous_G213G,Synonymous_G301G,Silent,Synonymous_G245G,Synonymous_G213G,Synonymous_G301G,Synonymous_G189G,Synonymous_G301G,Synonymous_G301G,Synonymous_G2G rs7555570 1 60020918 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1440575 1 60023941 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm63871 1 60073550 [A/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_N271H,Missense_N215H,Missense_N215H,Missense_N193H,Missense_N327H,Missense_N239H,Missense_N327H,Silent,Missense_N271H,Missense_N239H,Missense_N327H,Missense_N215H,Missense_N327H,Missense_N327H,Missense_N28H exm63872 1 60073563 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_Q275R,Missense_Q219R,Missense_Q219R,Missense_Q197R,Missense_Q331R,Missense_Q243R,Missense_Q331R,Silent,Missense_Q275R,Missense_Q243R,Missense_Q331R,Missense_Q219R,Missense_Q331R,Missense_Q331R,Missense_Q32R variant.3837 1 60073583 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent var_1_60073587 1 60073587 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs12727131 1 60084516 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm63876 1 60091687 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_A291S,Missense_A235S,Missense_A235S,Missense_A213S,Missense_A347S,Missense_A259S,Missense_A347S,Silent,Missense_A291S,Missense_A259S,Missense_A347S,Missense_A235S,Missense_A347S,Missense_A347S,Missense_A48S rs6690357 1 60099282 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7524379 1 60100662 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm63880 1 60103910 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_I306V,Missense_I250V,Missense_I250V,Missense_I228V,Missense_I362V,Missense_I274V,Missense_I362V,Silent,Missense_I306V,Missense_I274V,Missense_I362V,Missense_I250V,Missense_I362V,Missense_I362V,Missense_I63V exm63882 1 60103931 [A/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_H313N,Missense_H257N,Missense_H257N,Missense_H235N,Missense_H369N,Missense_H281N,Missense_H369N,Silent,Missense_H313N,Missense_H281N,Missense_H369N,Missense_H257N,Missense_H369N,Missense_H369N,Missense_H70N exm63883 1 60103937 [G/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_D315H,Missense_D259H,Missense_D259H,Missense_D237H,Missense_D371H,Missense_D283H,Missense_D371H,Silent,Missense_D315H,Missense_D283H,Missense_D371H,Missense_D259H,Missense_D371H,Missense_D371H,Missense_D72H exm1845285 1 60103965 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_G324D,Missense_G268D,Missense_G268D,Missense_G246D,Missense_G380D,Missense_G292D,Missense_G380D,Silent,Missense_G324D,Missense_G292D,Missense_G380D,Missense_G268D,Missense_G380D,Missense_G380D,Missense_G81D exm63887 1 60104049 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1KG_1_60106962 1 60106962 [I/D] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON rs7540838 1 60128805 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent newrs115318188 1 60133075 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_G417S,Missense_G385R,Missense_G361S,Missense_G339S,Missense_G473S,Missense_G409S,Missense_G497S,Silent,Missense_G417S,Missense_G385S,Missense_G473S,Missense_G361R,Missense_G497S,Missense_G473R,Missense_G174S exm63915 1 60139794 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_A445T,Silent,Missense_A389T,Missense_A367T,Missense_A501T,Missense_A437T,Missense_A525T,Silent,Missense_A445T,Missense_A413T,Missense_A501T,Silent,Missense_A525T,Silent,Missense_A202T rs4578243 1 60140439 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4912219 1 60146753 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2252414 1 60152685 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12732614 1 60157178 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4357555 1 60161256 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4244022 1 60164209 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6685309 1 60173734 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9436185 1 60199591 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2897708 1 60201195 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2268895 1 60211466 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2179662 1 60213519 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9726956 1 60215711 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs654165 1 60226496 [A/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.3843 1 60228227 [D/I] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON exm63922 1 60228246 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_N493S,Silent,Missense_N437S,Missense_N415S,Missense_N549S,Missense_N485S,Missense_N573S,Missense_N493S,Missense_N461S,Missense_N549S,Silent,Missense_N573S,Silent,Missense_N250S exm1845312 1 60228254 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_X496R,Silent,Missense_X440R,Missense_X418R,Missense_X552R,Missense_X488R,Missense_X576R,Missense_X496R,Missense_X464R,Missense_X552R,Silent,Missense_X576R,Silent,Missense_X253R rs6672451 1 60259626 [A/G] rs11207520 1 60275095 [T/G] rs1933218 1 60279540 [T/G] exm63927 1 60287549 [T/C] NM_015888 HOOK1 EXON Missense_A28V exm63930 1 60287591 [C/G] NM_015888 HOOK1 EXON Missense_A42G exm63937 1 60299125 [A/G] NM_015888 HOOK1 EXON Missense_I108V rs11207523 1 60302414 [T/C] NM_015888 HOOK1 Silent variant.3844 1 60306068 [A/G] NM_015888 HOOK1 Silent exm63954 1 60314033 [T/C] NM_015888 HOOK1 EXON Missense_Y326H exm63960 1 60314159 [T/C] NM_015888 HOOK1 EXON Missense_R368C exm1845332 1 60314815 [A/G] NM_015888 HOOK1 EXON Missense_R401Q exm63965 1 60314854 [A/G] NM_015888 HOOK1 EXON Missense_E414G rs3754203 1 60323953 [T/G] NM_015888 HOOK1 Silent variant.3847 1 60325873 [T/C] NM_015888 HOOK1 EXON Nonsense_R469X exm63973 1 60325933 [A/G] NM_015888 HOOK1 EXON Missense_I489V rs10493269 1 60327434 [T/C] NM_015888 HOOK1 Silent rs11207527 1 60330511 [A/G] NM_015888 HOOK1 Silent exm63987 1 60330900 [T/C] NM_015888 HOOK1 EXON Missense_P576L exm63992 1 60331553 [T/C] NM_015888 HOOK1 EXON Missense_I585T exm63993 1 60331556 [A/G] NM_015888 HOOK1 EXON Missense_N586S exm63996 1 60331623 [A/G] NM_015888 HOOK1 EXON Missense_M608I exm64007 1 60338498 [T/C] NM_015888 HOOK1 EXON Missense_S683F exm64014 1 60338579 [A/G] NM_015888 HOOK1 EXON Missense_H710R rs12734028 1 60349843 [T/G] rs12064386 1 60352377 [A/C] rs2280273 1 60358982 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Silent kgp12171305 1 60359077 [A/T] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Silent kgp5898133 1 60359246 [T/A] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Silent kgp15696966 1 60359335 [T/A] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Synonymous_V499V exm64021 1 60359349 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_R495C indel.3849 1 60359360 [D/I] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON exm2252415 1 60366746 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Synonymous_A407A rs1056596 1 60370601 [A/T] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_L378Q exm64040 1 60370667 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_R356Q exm64041 1 60370671 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_A355T exm64044 1 60370682 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_P351L exm64046 1 60370710 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_D342N rs11572282 1 60372968 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 Silent,Silent,Silent variant.3851 1 60373458 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_E335K newrs150250306 1 60373471 [T/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Nonsense_Y330X exm64048 1 60373471 [T/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Nonsense_Y330X rs11572279 1 60373500 [T/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Synonymous_R321R exm1845358 1 60373527 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_G312R exm64055 1 60375500 [A/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Nonsense_E273X newrs143860781 1 60375613 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Nonsense_W235X exm64060 1 60377365 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_R200H SNP47 1 60377885 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_R158C SNP101 1 60377930 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_T143A exm64070 1 60377960 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_A133T exm64074 1 60381612 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_N124S exm64075 1 60381633 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_R117Q exm2233649 1 60381646 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_V113M kgp15417871 1 60381674 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Synonymous_H103H exm1845370 1 60381730 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_D85N exm64080 1 60392209 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Synonymous_L70L kgp15360395 1 60392236 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Synonymous_F61F exm1845377 1 60392263 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Synonymous_F52F rs11572191 1 60392271 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Synonymous_L50L exm64090 1 60392390 [T/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_A10D rs12743907 1 60402488 [T/C] rs12731852 1 60408975 [T/C] rs11207546 1 60413925 [T/C] rs11800976 1 60446474 [T/C] rs2807616 1 60447656 [T/C] rs4915842 1 60454069 [A/G] exm64096 1 60456364 [T/C] NM_152377 C1orf87 EXON Missense_R541Q exm64097 1 60456365 [A/G] NM_152377 C1orf87 EXON Missense_R541W exm64106 1 60456478 [T/C] NM_152377 C1orf87 EXON Missense_R503H exm64107 1 60456479 [A/G] NM_152377 C1orf87 EXON Missense_R503C newrs114035967 1 60456491 [A/C] NM_152377 C1orf87 EXON Nonsense_E499X exm64109 1 60456491 [A/C] NM_152377 C1orf87 EXON Nonsense_E499X rs4915847 1 60461958 [T/G] NM_152377 C1orf87 Silent exm64110 1 60463283 [A/G] NM_152377 C1orf87 EXON Missense_T493I exm64113 1 60463343 [A/G] NM_152377 C1orf87 EXON Missense_T473M exm1845390 1 60466808 [A/G] NM_152377 C1orf87 EXON Missense_P405S variant.3859 1 60476126 [T/C] NM_152377 C1orf87 EXON Nonsense_W377X rs1337738 1 60478215 [T/C] NM_152377 C1orf87 Silent rs657373 1 60484684 [T/G] NM_152377 C1orf87 Silent indel.3860 1 60491130 [I/D] NM_152377 C1orf87 EXON rs642294 1 60494956 [A/C] NM_152377 C1orf87 Silent exm64138 1 60499231 [A/T] NM_152377 C1orf87 EXON Missense_N316Y exm64141 1 60499276 [T/C] NM_152377 C1orf87 EXON Missense_N301D exm64142 1 60499308 [A/G] NM_152377 C1orf87 EXON Missense_P290L var_1_60499314 1 60499314 [T/C] NM_152377 C1orf87 Silent rs17120030 1 60502624 [A/G] NM_152377 C1orf87 Silent variant.3863 1 60503663 [T/C] NM_152377 C1orf87 Silent indel.3864 1 60503685 [D/I] NM_152377 C1orf87 EXON exm1845404 1 60503756 [T/C] NM_152377 C1orf87 EXON Nonsense_W257X exm64151 1 60505617 [T/C] NM_152377 C1orf87 EXON Missense_R240K exm64153 1 60505677 [T/C] NM_152377 C1orf87 EXON Missense_R220H exm64157 1 60505771 [G/C] NM_152377 C1orf87 EXON Missense_P189A exm64158 1 60505774 [A/G] NM_152377 C1orf87 EXON Missense_R188C exm64161 1 60505800 [A/G] NM_152377 C1orf87 EXON Missense_A179V exm64165 1 60506673 [T/C] NM_152377 C1orf87 EXON Missense_D158G exm64166 1 60506698 [T/C] NM_152377 C1orf87 EXON Missense_E150K rs10493277 1 60506744 [A/G] NM_152377 C1orf87 EXON Synonymous_S134S exm64169 1 60506761 [T/C] NM_152377 C1orf87 EXON Missense_G129R exm64173 1 60520956 [A/G] NM_152377 C1orf87 EXON Missense_H88Y rs640639 1 60529363 [T/G] NM_152377 C1orf87 Silent rs17120097 1 60543334 [A/C] rs675310 1 60543950 [T/G] rs685952 1 60547426 [A/G] rs677574 1 60575925 [T/C] exm2264843 1 60579518 [A/G] rs6677345 1 60581154 [T/C] rs665062 1 60585522 [A/G] rs645024 1 60597914 [A/G] rs680811 1 60599251 [T/G] rs6686672 1 60605603 [A/G] rs583614 1 60607633 [T/G] rs17120264 1 60613082 [A/G] rs922356 1 60631000 [A/G] rs11584678 1 60650062 [A/G] rs6587877 1 60659543 [T/C] rs10443220 1 60659719 [T/C] rs6661520 1 60666641 [T/G] rs1381888 1 60667904 [A/G] rs17120400 1 60691588 [A/G] rs10515373 1 60701724 [T/G] rs3906402 1 60702323 [T/C] rs7535541 1 60704278 [A/C] rs6662682 1 60730938 [A/G] rs4259695 1 60758915 [A/G] rs4147294 1 60762564 [A/G] rs454776 1 60794707 [T/C] rs2992353 1 60794919 [A/G] rs298167 1 60805150 [A/G] rs412924 1 60824982 [T/C] rs1501246 1 60828648 [A/G] rs2937308 1 60832948 [A/G] rs298142 1 60833726 [A/G] rs298147 1 60838146 [T/C] rs298128 1 60848538 [A/G] rs3013544 1 60852092 [A/C] rs298155 1 60874772 [A/C] rs7529292 1 60876146 [T/C] rs657300 1 60876186 [A/G] rs11207605 1 60887538 [A/G] rs10493287 1 60888482 [T/G] rs11207606 1 60891642 [A/C] rs1501228 1 60907460 [T/G] rs10493283 1 60915699 [T/C] rs4915693 1 60927512 [A/G] rs4644526 1 60939827 [A/G] rs12404114 1 60944959 [A/C] rs4075690 1 60952106 [T/C] rs7355119 1 60966964 [T/C] rs11806181 1 60975097 [T/G] rs7522454 1 60983620 [A/G] NR_146508 LINC01748 Silent rs7412958 1 60983782 [A/G] NR_146508 LINC01748 Silent rs6587887 1 61009286 [T/C] NR_146508 LINC01748 Silent rs7522761 1 61014021 [A/G] NR_146508 LINC01748 Silent rs1461356 1 61037015 [A/G] NR_146508 LINC01748 Silent rs12565755 1 61041875 [T/C] NR_146508 LINC01748 Silent rs10493290 1 61042865 [T/C] NR_146508 LINC01748 Silent exm-rs2989476 1 61059259 [G/C] NR_146508 LINC01748 Silent rs3896178 1 61061996 [A/G] NR_146508 LINC01748 EXON Silent rs484743 1 61062474 [A/G] NR_146508 LINC01748 Silent rs814197 1 61092456 [T/G] exm-rs472913 1 61095558 [C/G] rs7551820 1 61098227 [A/G] rs496946 1 61099717 [A/G] rs497005 1 61111774 [T/C] rs473368 1 61121928 [A/C] rs4916077 1 61129046 [A/G] NR_110628 LOC101926964 Silent rs4915699 1 61133462 [A/G] NR_110628 LOC101926964 Silent rs10493291 1 61137283 [A/G] NR_110628 LOC101926964 Silent rs10493293 1 61139168 [A/G] NR_110628 LOC101926964 Silent rs1461353 1 61157162 [A/C] NR_110628 LOC101926964 Silent rs1381170 1 61162222 [A/G] NR_110628 LOC101926964 Silent rs10493294 1 61170724 [A/G] NR_110628 LOC101926964 Silent rs12045994 1 61192181 [T/C] NR_110628 LOC101926964 Silent rs13376444 1 61193225 [T/C] NR_110628 LOC101926964 Silent rs1022265 1 61196715 [A/G] NR_110628 LOC101926964 Silent rs1563954 1 61202901 [A/C] NR_110628 LOC101926964 Silent rs1514178 1 61205469 [T/C] NR_110628 LOC101926964 Silent exm2268697 1 61229363 [T/G] NR_110628 LOC101926964 Silent rs10889198 1 61229925 [T/C] NR_110628 LOC101926964 Silent rs310166 1 61231047 [T/G] NR_110628 LOC101926964 Silent rs310170 1 61233723 [T/C] NR_110628 LOC101926964 Silent rs6676070 1 61234270 [A/G] NR_110628 LOC101926964 Silent rs425181 1 61235684 [T/C] NR_110628 LOC101926964 Silent rs6650097 1 61264342 [A/G] NR_110628 LOC101926964 Silent rs647554 1 61274442 [T/G] NR_110628 LOC101926964 Silent rs12759959 1 61280352 [A/G] NR_110628 LOC101926964 Silent exm-rs1877734 1 61282089 [A/G] NR_110628 LOC101926964 Silent rs12059652 1 61287929 [A/G] NR_110628 LOC101926964 Silent rs648787 1 61296240 [A/G] rs11808039 1 61303553 [A/G] rs7513184 1 61311939 [T/G] rs788040 1 61313338 [T/C] rs7515350 1 61319444 [A/G] rs6587905 1 61321009 [T/C] rs6657429 1 61332973 [T/C] rs7532404 1 61335153 [A/G] rs310172 1 61337290 [T/C] rs421735 1 61341375 [A/G] rs1447184 1 61355010 [A/G] rs1002005 1 61360179 [T/C] rs655460 1 61376522 [T/C] rs662495 1 61377516 [A/G] rs17121250 1 61380205 [T/G] rs4915717 1 61383717 [A/G] rs12062121 1 61384107 [T/C] rs12062201 1 61384237 [T/C] rs1414277 1 61409064 [T/C] NR_110617 NFIA-AS2 Silent rs17121331 1 61412131 [T/G] NR_110617 NFIA-AS2 Silent rs2361817 1 61423517 [A/G] NR_110617,NR_110618 NFIA-AS2,NFIA-AS2 Silent,Silent rs12038942 1 61435075 [T/C] NR_110617,NR_110618 NFIA-AS2,NFIA-AS2 Silent,Silent exm2260512 1 61442276 [A/G] rs12047847 1 61444568 [A/G] rs1032622 1 61447172 [A/C] rs12140465 1 61449494 [T/C] rs10458567 1 61454166 [T/G] rs10889204 1 61454885 [A/G] rs12028122 1 61463426 [A/G] exm2252445 1 61465289 [A/G] rs1498109 1 61476762 [T/C] rs1419336 1 61477603 [T/C] rs1777533 1 61493285 [A/G] rs7550247 1 61504490 [A/G] rs12565220 1 61522880 [T/C] exm64190 1 61553987 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA EXON Missense_P57L,Missense_P110L,Missense_P65L,Missense_P65L rs964091 1 61567939 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs10493302 1 61571392 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs6693597 1 61582546 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs17121624 1 61584195 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs334701 1 61619056 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs334711 1 61625310 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs168022 1 61629453 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs914735 1 61646425 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12091215 1 61647103 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12126115 1 61659786 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12118221 1 61671468 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs332819 1 61678557 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12565339 1 61680951 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs333146 1 61681500 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs333142 1 61684005 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs6684051 1 61731440 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs7544358 1 61733856 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs437021 1 61738270 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12562645 1 61743478 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2243874 1 61757024 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs1414265 1 61762362 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2363876 1 61776742 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2806440 1 61786398 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs6691768 1 61791863 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent exm-rs6691768 1 61791863 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent exm64203 1 61798195 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA EXON Missense_F205V,Missense_F258V,Missense_F213V,Missense_F213V rs9436636 1 61812773 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2180200 1 61826395 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs1125777 1 61831890 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12568010 1 61831938 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs10489911 1 61838509 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs11581697 1 61861024 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2474382 1 61869118 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2092867 1 61877445 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2499533 1 61880686 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2474373 1 61880714 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs11207738 1 61890465 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs6587924 1 61895257 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs1884367 1 61902907 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent exm64236 1 61920993 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA EXON Silent,Silent,Missense_K480R,Silent exm1849030 1 61921034 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA EXON Silent,Silent,Missense_P494S,Silent rs9436212 1 61931351 [A/G] rs7540743 1 61945181 [T/G] rs4915745 1 61947516 [T/G] exm-rs4915746 1 61952574 [A/G] rs4915746 1 61952574 [A/G] rs3890764 1 61961953 [A/G] rs6682077 1 61966582 [A/C] rs2246514 1 61987970 [T/C] exm2252477 1 61987970 [T/C] rs1890265 1 61998177 [T/G] rs1933301 1 62002888 [A/G] rs7541526 1 62003946 [A/G] rs2365259 1 62034999 [A/C] rs1933323 1 62050490 [T/G] rs12143476 1 62059647 [T/C] rs2365269 1 62060213 [A/G] rs10889240 1 62064170 [A/G] rs2029857 1 62068302 [T/C] rs7519218 1 62068999 [A/G] rs17122491 1 62071712 [T/C] rs12068634 1 62080228 [T/C] rs6675169 1 62082312 [A/G] rs7530003 1 62082800 [A/G] rs12409500 1 62085876 [T/C] rs1933293 1 62089261 [T/C] rs12139976 1 62102307 [A/G] rs10889245 1 62103029 [A/G] rs10889249 1 62119809 [T/C] rs6700526 1 62121303 [T/C] NR_073400 MGC34796 EXON Silent rs4915770 1 62124388 [A/G] rs11207801 1 62126262 [A/G] rs6587943 1 62129132 [A/G] rs6694023 1 62130167 [A/G] rs11207804 1 62134264 [T/C] rs1390450 1 62140388 [A/G] rs11207808 1 62146438 [A/G] rs11207809 1 62148927 [A/G] NR_135162,NR_135161,NM_032027,NR_135160 TM2D1,TM2D1,TM2D1,TM2D1 Silent,Silent,Silent,Silent rs11207811 1 62165212 [A/C] NR_135162,NR_135161,NM_032027,NR_135160 TM2D1,TM2D1,TM2D1,TM2D1 Silent,Silent,Silent,Silent variant.3866 1 62166605 [A/C] NR_135162,NR_135161,NM_032027,NR_135160 TM2D1,TM2D1,TM2D1,TM2D1 Silent,Silent,Silent,Silent exm64294 1 62190717 [C/G] NR_135162,NR_135161,NM_032027,NR_135160 TM2D1,TM2D1,TM2D1,TM2D1 EXON Silent,Silent,Missense_V26L,Silent exm64298 1 62190770 [T/C] NR_135162,NR_135161,NM_032027,NR_135160 TM2D1,TM2D1,TM2D1,TM2D1 EXON Silent,Silent,Missense_G8D,Silent rs12408292 1 62212822 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs11807037 1 62225073 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64308 1 62228696 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V12M,Missense_V12M exm64312 1 62228751 [C/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_S30W,Missense_S30W exm64314 1 62228778 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_Y39C,Missense_Y39C exm64324 1 62232087 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_P109L,Missense_P109L exm64333 1 62235027 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R153G,Missense_R153G exm64335 1 62235069 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V167I,Missense_V167I indel.3867 1 62235088 [D/I] NM_176877,NM_001350145 PATJ,PATJ EXON exm64341 1 62237224 [T/A] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_I216F,Missense_I216F rs1954436 1 62248195 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64355 1 62253483 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G303R,Missense_G303R exm64356 1 62253546 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V324I,Missense_V324I exm64358 1 62253583 [A/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_P336H,Missense_P336H exm64361 1 62253601 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_L342S,Missense_L342S exm64365 1 62257036 [A/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_E362A,Missense_E362A exm64370 1 62257092 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V381I,Missense_V381I rs7516332 1 62261168 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_I400V,Missense_I400V exm64373 1 62261168 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_I400V,Missense_I400V exm64376 1 62261214 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_N415S,Missense_N415S indel.3871 1 62261229 [I/D] NM_176877,NM_001350145 PATJ,PATJ EXON exm64381 1 62263049 [A/C] NM_176877,NM_001350145 PATJ,PATJ EXON Synonymous_R451R,Synonymous_R451R rs4915778 1 62263416 [A/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64387 1 62267321 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_P477S,Missense_P477S exm64389 1 62267355 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_E488G,Missense_E488G rs1286831 1 62271962 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64399 1 62288689 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_I586V,Missense_I586V exm64400 1 62288730 [C/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_Q599H,Missense_Q599H variant.3873 1 62288752 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64409 1 62299351 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_T669I,Missense_T669I exm64411 1 62299365 [T/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_D674Y,Missense_D674Y exm64412 1 62299410 [G/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_L689V,Missense_L689V rs1572670 1 62306819 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2788616 1 62313142 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64422 1 62321856 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_I756T,Missense_I756T exm64428 1 62327304 [G/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_D802H,Missense_D802H exm64436 1 62330062 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_M864I,Missense_M864I exm64438 1 62330080 [T/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_I870M,Missense_I870M exm64448 1 62330289 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_Y940C,Missense_Y940C rs6698337 1 62337807 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs12096192 1 62340726 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs10889262 1 62344107 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm1852006 1 62350016 [C/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R1023G,Missense_R1023G rs9326052 1 62356590 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs10889266 1 62357771 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2498997 1 62363350 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64469 1 62365276 [A/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_E1051D,Missense_E1051D rs2499002 1 62366878 [T/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64472 1 62366977 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_N1076S,Missense_N1076S exm2233670 1 62367097 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_T1116M,Missense_T1116M variant.3876 1 62374152 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Nonsense_R1164X,Nonsense_R1164X exm64480 1 62374153 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R1164Q,Missense_R1164Q rs1332636 1 62375977 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64483 1 62380262 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_I1166V,Missense_I1166V exm64488 1 62380298 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G1178S,Missense_G1178S var_1_62380337 1 62380337 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs4915790 1 62392494 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64493 1 62393420 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_P1197S,Missense_P1197S variant.3878 1 62393501 [A/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_Q1224K,Missense_Q1224K variant.3879 1 62393502 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs10889271 1 62400487 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs11807297 1 62405873 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs11585194 1 62422442 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2498968 1 62435141 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs7545272 1 62448245 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent var_1_62455839 1 62455839 [T/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent indel.3881 1 62455852 [I/D] NM_176877,NM_001350145 PATJ,PATJ EXON variant.3882 1 62455875 [T/G] NM_176877,NM_001350145 PATJ,PATJ EXON Nonsense_E1236X,Nonsense_E1236X exm64551 1 62455935 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_N1256D,Missense_N1256D exm64555 1 62456014 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R1282H,Missense_R1282H exm2273652 1 62456019 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G1284R,Missense_G1284R rs10493316 1 62458463 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs7526836 1 62468855 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs1888984 1 62473982 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2183995 1 62479403 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64560 1 62483586 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_T1309I,Missense_T1309I rs6697273 1 62486381 [T/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs1332630 1 62492215 [T/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs1332631 1 62496360 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs11585888 1 62499673 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs7520924 1 62500555 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs4072372 1 62505421 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs13374203 1 62511933 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm1852739 1 62516657 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_P1351L,Missense_P1351L exm64568 1 62516683 [G/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V1360L,Missense_V1360L exm64569 1 62516703 [T/A] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_Q1366H,Missense_Q1366H rs6674622 1 62534938 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64572 1 62550192 [T/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_F1417V,Missense_F1417V exm64573 1 62550219 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_A1426T,Missense_A1426T rs17123057 1 62555219 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs10127438 1 62560928 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent variant.3885 1 62566081 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm1852889 1 62574133 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_Y1468H,Missense_Y1468H exm1852890 1 62574193 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2476188 1 62575427 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs6688017 1 62575911 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64588 1 62579758 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_E1499K,Missense_E1499K exm64592 1 62579809 [T/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V1516L,Missense_V1516L exm64596 1 62579891 [T/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G1543V,Missense_G1543V exm64600 1 62579908 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V1549I,Missense_V1549I exm64601 1 62579917 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Nonsense_R1552X,Nonsense_R1552X exm64602 1 62579918 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R1552Q,Missense_R1552Q rs12044746 1 62580201 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64607 1 62582212 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_S1555N,Missense_S1555N exm64608 1 62582235 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V1563M,Missense_V1563M var_1_62582274 1 62582274 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Nonsense_Q1576X,Nonsense_Q1576X exm64617 1 62582847 [G/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_A1616G,Missense_A1616G indel.3890 1 62586958 [I/D] NM_176877,NM_001350145 PATJ,PATJ EXON variant.3891 1 62588732 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64634 1 62593737 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G1713R,Missense_G1713R exm64637 1 62593749 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R1717W,Missense_R1717W exm64638 1 62593750 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R1717Q,Missense_R1717Q rs2476194 1 62594593 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Synonymous_N1749N,Synonymous_N1749N exm-rs2481665 1 62594677 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs6680526 1 62603544 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2476197 1 62606693 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs11207909 1 62607786 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64652 1 62613986 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_A1768T,Missense_A1768T exm64654 1 62614029 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_S1782L,Missense_S1782L rs2666494 1 62614453 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2481677 1 62632571 [A/G] rs2666504 1 62635081 [T/C] rs2457832 1 62635116 [T/C] rs2260697 1 62638306 [A/C] rs12116810 1 62657530 [T/G] exm64661 1 62672381 [A/T] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_R27S,Missense_R27S exm64663 1 62672415 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_P39S,Missense_P39S indel.3900 1 62672472 [I/D] NM_001164835,NM_019079 L1TD1,L1TD1 EXON exm64667 1 62672481 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_I61V,Missense_I61V rs2457829 1 62672546 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Synonymous_G82G,Synonymous_G82G indel.3901 1 62672566 [D/I] NM_001164835,NM_019079 L1TD1,L1TD1 EXON exm64675 1 62672637 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_T113A,Missense_T113A variant.3903 1 62672751 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Nonsense_E151X,Nonsense_E151X variant.3904 1 62672796 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Nonsense_R166X,Nonsense_R166X exm64681 1 62672812 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_M171T,Missense_M171T exm64685 1 62672889 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_R197G,Missense_R197G rs7542665 1 62673037 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_V246A,Missense_V246A exm64690 1 62673037 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_V246A,Missense_V246A exm64693 1 62673126 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_F276L,Missense_F276L exm64695 1 62673225 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_V309M,Missense_V309M exm64696 1 62673287 [A/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_K329N,Missense_K329N rs12729017 1 62674507 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 Silent,Silent rs11207932 1 62674547 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 Silent,Silent exm64701 1 62675539 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_V365I,Missense_V365I exm2275456 1 62675667 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_E407D,Missense_E407D exm64715 1 62675673 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_E409D,Missense_E409D exm64716 1 62675674 [A/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_P410T,Missense_P410T exm64726 1 62675798 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_L451S,Missense_L451S indel.3910 1 62675808 [I/D] NM_001164835,NM_019079 L1TD1,L1TD1 EXON exm2252524 1 62675892 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Synonymous_E482E,Synonymous_E482E exm64733 1 62675894 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_E483G,Missense_E483G exm64736 1 62675945 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_K500R,Missense_K500R indel.3911 1 62675967 [D/I] NM_001164835,NM_019079 L1TD1,L1TD1 EXON exm64741 1 62676091 [A/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_P549T,Missense_P549T exm64744 1 62676188 [C/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_T581R,Missense_T581R exm64746 1 62676205 [A/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_K587Q,Missense_K587Q indel.3912 1 62676225 [D/I] NM_001164835,NM_019079 L1TD1,L1TD1 EXON var_1_62676247 1 62676248 [I/D] NM_001164835,NM_019079 L1TD1,L1TD1 EXON exm64748 1 62676284 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_T613I,Missense_T613I exm64749 1 62676329 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_I628R,Missense_I628R indel.3916 1 62676617 [I/D] NM_001164835,NM_019079 L1TD1,L1TD1 EXON exm64761 1 62676688 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_S748G,Missense_S748G exm2252525 1 62676714 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Synonymous_T756T,Synonymous_T756T newrs140559126 1 62676866 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Nonsense_W807X,Nonsense_W807X indel.3918 1 62676946 [D/I] NM_001164835,NM_019079 L1TD1,L1TD1 EXON exm64768 1 62676970 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_S842G,Missense_S842G exm64769 1 62676991 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_Y849D,Missense_Y849D rs12137401 1 62677050 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Silent,Silent rs4019803 1 62687104 [A/G] rs6683592 1 62692092 [A/G] rs1050334 1 62703236 [A/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Silent,Silent exm64783 1 62703977 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_A987V,Missense_A359V exm64785 1 62704007 [T/A] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_M977K,Missense_M349K exm64787 1 62704029 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_A970T,Missense_A342T exm64789 1 62704046 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_R964H,Missense_R336H rs11207944 1 62707613 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs6664672 1 62711941 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent exm64790 1 62713164 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_D955N,Missense_D327N exm64796 1 62713224 [C/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_V935L,Missense_V307L rs12122645 1 62714918 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs2457809 1 62716323 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent exm1853022 1 62718804 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_N873D,Missense_N245D exm64807 1 62718827 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_T865I,Missense_T237I exm64809 1 62718880 [T/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Synonymous_G847G,Synonymous_G219G rs12062559 1 62724753 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs2765241 1 62727596 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent exm64811 1 62728784 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_V840A,Missense_V212A exm64816 1 62728838 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_H822R,Missense_H194R exm64818 1 62728902 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_Y801H,Missense_Y173H rs2262110 1 62728918 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Synonymous_P795P,Synonymous_P167P exm1853100 1 62732409 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_L772F,Missense_L144F rs11207949 1 62732421 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_T768A,Missense_T140A exm64827 1 62732421 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_T768A,Missense_T140A rs11579934 1 62732945 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent var_1_62733957 1 62733958 [D/I] NM_181712,NM_001320269 KANK4,KANK4 exm64835 1 62733963 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_E743K,Missense_E115K exm64843 1 62734089 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_G701S,Missense_G73S exm64845 1 62734116 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_D692N,Missense_D64N exm1853113 1 62734172 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_E673G,Missense_E45G exm64853 1 62737151 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_G671R,Missense_G43R exm64854 1 62737165 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_V666A,Missense_V38A exm64855 1 62737204 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_R653H,Missense_R25H exm64862 1 62738932 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_S615L,Silent exm64880 1 62739226 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_R517K,Silent exm64885 1 62739302 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_H492Y,Silent exm1853157 1 62739400 [A/T] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_D459V,Silent exm64892 1 62739433 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_R448Q,Silent exm64899 1 62739542 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_V412M,Silent exm64901 1 62739547 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_T410M,Silent exm64908 1 62739719 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_E353K,Silent exm64909 1 62739727 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_S350L,Silent exm64910 1 62739761 [T/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_P339T,Silent exm64911 1 62739769 [A/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_R336M,Silent exm64912 1 62739801 [G/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_I325M,Silent exm64920 1 62739928 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_T283M,Silent exm64924 1 62739979 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_D266G,Silent exm64925 1 62740027 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_P250L,Silent exm64936 1 62740129 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_S216F,Silent exm64944 1 62740264 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_H171R,Silent exm2233682 1 62740400 [T/A] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_S126C,Silent exm2252530 1 62740752 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Synonymous_D8D,Silent rs2666508 1 62740930 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs12138544 1 62743398 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs2765251 1 62745206 [A/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs2765255 1 62753383 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs2765261 1 62757670 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs4915811 1 62758183 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs12082238 1 62760625 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs1886834 1 62765049 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs12037499 1 62767953 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs4915818 1 62788511 [T/C] rs2366210 1 62791745 [A/G] rs6690755 1 62803211 [T/C] rs3861941 1 62824790 [T/C] rs12042483 1 62833738 [A/G] rs6587971 1 62836976 [T/C] rs3949904 1 62848090 [A/G] rs2104448 1 62854808 [A/C] rs1413821 1 62866390 [T/C] rs4439380 1 62866854 [A/G] rs10889328 1 62867790 [T/G] rs635897 1 62896419 [A/C] rs10493324 1 62898142 [T/C] exm64965 1 62905542 [T/C] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_P2S,Missense_P2S,Missense_P2S exm64979 1 62907214 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_N76D,Missense_N76D,Missense_N76D exm64986 1 62908939 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_K169R,Missense_K169R,Missense_K169R exm2233685 1 62910612 [T/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_M254R,Missense_M254R,Missense_M254R exm65006 1 62910943 [C/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_N364K,Missense_N364K,Missense_N364K exm65007 1 62910957 [G/C] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_G369A,Missense_G369A,Missense_G369A exm65010 1 62910981 [T/A] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_D377V,Missense_D377V,Missense_D377V exm65013 1 62911046 [T/C] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_P399S,Missense_P399S,Missense_P399S exm65018 1 62914153 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_T480A,Missense_T480A,Missense_T480A exm65023 1 62915972 [G/C] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_L560V,Missense_L560V,Missense_L560V indel.3927 1 62916094 [I/D] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON exm65031 1 62916290 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_I666V,Missense_I666V,Missense_I666V exm1854373 1 62916503 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_V737M,Missense_V737M,Missense_V737M 1KG_1_62921149 1 62921149 [D/I] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 indel.3930 1 62921154 [I/D] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 rs3913007 1 62921586 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm65053 1 62923219 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_T2115P,Missense_T2084P,Missense_T2082P,Missense_T2113P,Missense_T2093P exm-rs1167998 1 62931632 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm65097 1 62953070 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_E1827G,Missense_E1796G,Silent,Silent,Missense_E1805G exm65118 1 62962089 [T/A] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_F1606Y,Missense_F1575Y,Missense_F1575Y,Missense_F1606Y,Missense_F1584Y rs1168029 1 62969402 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm65125 1 62970369 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_G1557S,Missense_G1526S,Missense_G1526S,Missense_G1557S,Missense_G1535S variant.3931 1 62979137 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Silent,Silent,Silent,Silent,Synonymous_T1389T rs10889337 1 62980607 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm65153 1 62993823 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_T1312M,Missense_T1281M,Missense_T1281M,Missense_T1312M,Missense_T1281M exm65188 1 63009368 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_S970G,Missense_S939G,Missense_S939G,Missense_S970G,Missense_S939G exm65198 1 63018549 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_V874M,Missense_V874M,Missense_V874M,Missense_V874M,Missense_V874M exm65200 1 63018564 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_G869S,Missense_G869S,Missense_G869S,Missense_G869S,Missense_G869S rs10159255 1 63020816 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm65202 1 63021514 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_P860T,Missense_P860T,Missense_P860T,Missense_P860T,Missense_P860T exm65208 1 63021621 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_I824T,Missense_I824T,Missense_I824T,Missense_I824T,Missense_I824T exm-rs2131925 1 63025942 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm65230 1 63043025 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_M674V,Missense_M674V,Missense_M674V,Missense_M674V,Missense_M674V indel.3936 1 63044586 [I/D] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON exm-rs1748195 1 63049593 [C/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm65235 1 63052178 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Synonymous_P600P,Synonymous_P600P,Synonymous_P600P,Synonymous_P600P,Synonymous_P600P,Synonymous_P600P exm65238 1 63052222 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_K586E,Missense_K586E,Missense_K586E,Missense_K586E,Missense_K586E,Missense_K586E rs12048208 1 63055280 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent rs17123721 1 63061242 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent newrs139334976 1 63063509 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_E91G 1KG_1_63063592 1 63063593 [D/I] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON exm65257 1 63063616 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_L127F exm65259 1 63063688 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_N151D exm65261 1 63064415 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V182M exm2273653 1 63064458 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_I196T exm65273 1 63067475 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G253C exm65274 1 63067484 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T256A exm1855540 1 63067494 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_M259T exm65276 1 63067994 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S292P exm65277 1 63069703 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R332Q exm65281 1 63069736 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_H343R variant.3946 1 63069749 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_Y347X variant.3947 1 63069904 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_S399X variant.3948 1 63070316 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_W404X rs10789117 1 63072265 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent rs2031373 1 63083289 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent exm65306 1 63084474 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_L529F,Missense_L529F,Missense_L529F,Missense_L529F,Missense_L529F,Missense_L529F exm65311 1 63085630 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_K487R,Missense_K487R,Missense_K487R,Missense_K487R,Missense_K487R,Missense_K487R variant.3951 1 63085665 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent exm65326 1 63096928 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_V422A,Missense_V422A,Missense_V422A,Missense_V422A,Missense_V422A,Missense_V422A exm65345 1 63113853 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_I219T,Missense_I219T,Missense_I219T,Missense_I219T,Missense_I219T,Missense_I219T exm65347 1 63113968 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_M181V,Missense_M181V,Missense_M181V,Missense_M181V,Missense_M181V,Missense_M181V exm-rs10889353 1 63118196 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent exm2233691 1 63119791 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_D62N,Missense_D62N,Missense_D62N,Missense_D62N,Missense_D62N,Missense_D62N exm65360 1 63128715 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_N42S,Missense_N42S,Missense_N42S,Missense_N42S,Missense_N42S,Missense_N42S rs4587594 1 63133930 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent rs912540 1 63135127 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent rs1168110 1 63159055 [T/C] rs4915853 1 63191577 [A/C] exm-rs12130333 1 63191777 [T/C] rs4630152 1 63199272 [T/C] exm2260537 1 63201577 [A/G] rs6663281 1 63221191 [T/C] rs11807368 1 63231401 [T/G] rs17123830 1 63248080 [A/G] rs6587988 1 63252766 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent indel.3952 1 63269478 [D/I] NM_032852,NM_178221 ATG4C,ATG4C EXON exm65374 1 63270864 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_T33M,Missense_T33M exm65375 1 63270896 [A/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_L44I,Missense_L44I exm65382 1 63282309 [A/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_N75S,Missense_N75S exm65384 1 63282324 [A/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_R80H,Missense_R80H indel.3957 1 63282435 [I/D] NM_032852,NM_178221 ATG4C,ATG4C EXON exm65394 1 63282474 [A/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_G130D,Missense_G130D rs7539616 1 63283005 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent exm65395 1 63284676 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_A132V,Missense_A132V newrs34243881 1 63284886 [I/D] NM_032852,NM_178221 ATG4C,ATG4C EXON 1KG_1_63299729 1 63299729 [D/I] NM_032852,NM_178221 ATG4C,ATG4C EXON var_1_63299729 1 63299730 [D/I] NM_032852,NM_178221 ATG4C,ATG4C EXON indel.3964 1 63300483 [I/D] NM_032852,NM_178221 ATG4C,ATG4C EXON rs10493327 1 63303845 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent exm65423 1 63307121 [A/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_K371R,Missense_K371R newrs142574206 1 63307174 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Nonsense_R389X,Nonsense_R389X exm65426 1 63307174 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Nonsense_R389X,Nonsense_R389X variant.3966 1 63307195 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Nonsense_R396X,Nonsense_R396X rs11208047 1 63311836 [A/G] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent exm65432 1 63329777 [T/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_D442Y,Missense_D442Y exm65434 1 63329784 [A/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_K444R,Missense_K444R exm65435 1 63329789 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Nonsense_Q446X,Nonsense_Q446X exm65436 1 63329808 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_T452M,Missense_T452M rs11208050 1 63336271 [T/C] exm2264846 1 63346976 [A/G] rs12751505 1 63361221 [T/C] rs17124052 1 63396116 [T/C] rs12024707 1 63396290 [A/G] rs12134779 1 63396342 [T/C] rs7532163 1 63401945 [T/C] rs2780881 1 63405189 [A/C] rs2065585 1 63414401 [A/G] rs1333731 1 63417567 [T/C] rs6662502 1 63446754 [T/G] rs6683386 1 63452363 [T/C] rs6696216 1 63452419 [T/C] rs4915629 1 63457362 [T/G] rs2150030 1 63470519 [T/C] NR_146607,NR_146606,NR_146605 LINC01739,LINC01739,LINC01739 Silent,Silent,Silent rs4915864 1 63475829 [T/C] NR_146607,NR_146606,NR_146605 LINC01739,LINC01739,LINC01739 Silent,Silent,Silent rs12021818 1 63476135 [A/C] NR_146607,NR_146606,NR_146605 LINC01739,LINC01739,LINC01739 Silent,Silent,Silent rs7541201 1 63478358 [A/G] exm-rs17124318 1 63480730 [C/G] rs713311 1 63486692 [T/C] rs4915866 1 63488228 [T/G] exm2268699 1 63493164 [T/G] rs1330221 1 63495975 [T/C] rs12091913 1 63496207 [A/G] rs6694848 1 63503606 [A/G] rs1874930 1 63507395 [A/C] rs1027520 1 63513116 [A/G] rs1391813 1 63517581 [A/G] rs6695800 1 63521348 [A/C] rs17318082 1 63532307 [A/C] rs11808494 1 63545178 [A/G] rs953654 1 63549282 [T/C] rs10889402 1 63550500 [T/G] rs1498934 1 63561813 [A/G] rs1391819 1 63570551 [A/G] rs11208131 1 63578064 [A/C] rs1498930 1 63580025 [A/G] exm-rs7526034 1 63586973 [T/G] rs924337 1 63590222 [T/C] exm-rs10493340 1 63591129 [A/G] rs1556201 1 63596457 [T/C] rs7535047 1 63619559 [T/C] rs1353799 1 63621743 [T/C] rs11208143 1 63632518 [A/G] NR_038252 LINC00466 Silent rs10493341 1 63632591 [T/G] NR_038252 LINC00466 Silent rs4915880 1 63637911 [T/C] NR_038252 LINC00466 Silent rs6588015 1 63638714 [A/G] NR_038252 LINC00466 Silent rs11208148 1 63645215 [A/C] NR_038252 LINC00466 Silent rs7515650 1 63650851 [A/C] NR_038252 LINC00466 Silent rs4253945 1 63655914 [T/C] NR_038252 LINC00466 Silent rs4915639 1 63658137 [A/G] NR_038252 LINC00466 Silent rs6693289 1 63668754 [A/G] NR_038252 LINC00466 Silent rs7514965 1 63674545 [T/G] NR_038252 LINC00466 Silent rs6675635 1 63684460 [T/G] NR_038252 LINC00466 Silent rs7552970 1 63688381 [A/G] NR_038252 LINC00466 Silent rs11208174 1 63694103 [T/G] NR_038252 LINC00466 Silent rs997791 1 63694517 [A/G] NR_038252 LINC00466 Silent rs6661668 1 63696679 [A/G] NR_038252 LINC00466 Silent rs7554136 1 63727240 [T/G] NR_038252 LINC00466 Silent rs10493344 1 63734114 [A/C] NR_038252 LINC00466 Silent rs4915891 1 63753736 [T/C] NR_038252 LINC00466 Silent rs11208184 1 63774201 [A/G] NR_038252 LINC00466 Silent rs2367270 1 63775056 [A/C] NR_038252 LINC00466 Silent rs6666222 1 63780407 [T/C] NR_038252 LINC00466 Silent exm65444 1 63788776 [T/C] NR_121636,NR_121637,NM_012183 FOXD3-AS1,FOXD3-AS1,FOXD3 EXON Silent,Silent,Missense_T16M rs932747 1 63805129 [T/C] rs6675284 1 63818393 [T/C] rs12407262 1 63820276 [A/G] rs7522426 1 63821329 [A/G] rs12119056 1 63832640 [A/C] variant.3970 1 63836700 [T/C] NM_013339 ALG6 EXON Nonsense_R18X rs4915899 1 63844736 [T/C] NM_013339 ALG6 Silent rs4515822 1 63855501 [A/G] NM_013339 ALG6 Silent variant.3972 1 63870204 [A/G] NM_013339 ALG6 EXON Missense_R113H rs2273122 1 63871758 [T/C] NM_013339 ALG6 Silent rs1012872 1 63871881 [A/G] NM_013339 ALG6 Silent exm65513 1 63872032 [T/C] NM_013339 ALG6 EXON Missense_Y131H variant.3974 1 63872071 [T/G] NM_013339 ALG6 Silent variant.3975 1 63872785 [A/G] NM_013339 ALG6 EXON Missense_Y161C rs6588028 1 63872871 [A/G] NM_013339 ALG6 Silent exm65522 1 63877000 [T/G] NM_013339 ALG6 EXON Missense_K226N newrs146051065 1 63877004 [T/G] NM_013339 ALG6 Silent exm65526 1 63877638 [T/C] NM_013339 ALG6 EXON Missense_S241F exm65528 1 63877667 [A/G] NM_013339 ALG6 EXON Missense_T251A exm65531 1 63881552 [T/C] NM_013339 ALG6 EXON Missense_S304F newrs121908443 1 63885051 [T/C] NM_013339 ALG6 EXON Missense_A333V rs10493345 1 63900901 [A/G] NM_013339 ALG6 Silent rs12023577 1 63902431 [A/G] NM_013339 ALG6 Silent exm65556 1 63902524 [C/G] NM_013339 ALG6 EXON Missense_L453V indel.3980 1 63902554 [D/I] NM_013339 ALG6 EXON exm65561 1 63902603 [T/G] NM_013339 ALG6 EXON Missense_C479F exm65562 1 63902609 [A/G] NM_013339 ALG6 EXON Missense_N481S exm65564 1 63902632 [T/G] NM_013339 ALG6 EXON Missense_F489V rs6671446 1 63908980 [T/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent rs6588031 1 63918079 [T/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent rs1057815 1 63918388 [T/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent 1KG_1_63920634 1 63920634 [I/D] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP EXON exm65582 1 63920635 [T/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP EXON Silent,Missense_M87V,Missense_M87V,Missense_M126V,Missense_M47V,Missense_M87V rs6588043 1 63956190 [T/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent exm65593 1 63974241 [A/G] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP EXON Silent,Synonymous_P2P,Synonymous_P2P,Synonymous_S41S,Silent,Synonymous_P2P rs7418918 1 63977715 [A/G] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent rs217478 1 63991267 [T/C] NM_032437 EFCAB7 EXON Synonymous_D8D exm65608 1 63991322 [A/T] NM_032437 EFCAB7 EXON Missense_F27I exm65609 1 63991328 [G/C] NM_032437 EFCAB7 EXON Missense_L29V exm65611 1 63991379 [A/G] NM_032437 EFCAB7 EXON Missense_V46I exm65623 1 63998425 [A/G] NM_032437 EFCAB7 EXON Missense_K162E exm65625 1 63999138 [A/G] NM_032437 EFCAB7 EXON Missense_Y167C exm65632 1 63999234 [C/G] NM_032437 EFCAB7 EXON Missense_G199A indel.3992 1 63999794 [I/D] NM_032437 EFCAB7 EXON exm65639 1 63999826 [T/C] NM_032437 EFCAB7 EXON Missense_T248I exm65641 1 63999868 [T/C] NM_032437 EFCAB7 EXON Missense_M262T rs6657480 1 63999868 [T/C] NM_032437 EFCAB7 EXON Missense_M262T exm65645 1 64011657 [A/G] NM_032437 EFCAB7 EXON Missense_Y292C exm65646 1 64011667 [T/A] NM_032437 EFCAB7 EXON Missense_Q295H exm65647 1 64011693 [T/C] NM_032437 EFCAB7 EXON Missense_L304P exm65651 1 64017419 [A/G] NM_032437 EFCAB7 EXON Missense_V324I variant.3993 1 64017494 [T/C] NM_032437 EFCAB7 EXON Nonsense_R349X rs217483 1 64017830 [A/G] NM_032437 EFCAB7 Silent variant.3994 1 64021069 [A/G] NM_032437 EFCAB7 EXON Nonsense_W366X exm65652 1 64021096 [A/G] NM_032437 EFCAB7 EXON Missense_R375K variant.3995 1 64022894 [T/G] NM_032437 EFCAB7 EXON Nonsense_E442X exm65659 1 64027454 [C/G] NM_032437 EFCAB7 EXON Missense_R475G rs6696034 1 64030112 [A/G] NM_032437 EFCAB7 Silent exm65668 1 64034059 [A/G] NM_032437 EFCAB7 EXON Missense_G526R exm65670 1 64034086 [T/C] NM_032437 EFCAB7 EXON Missense_S535P exm65671 1 64034140 [A/G] NM_032437 EFCAB7 EXON Missense_V553M exm65675 1 64036697 [T/G] NM_032437 EFCAB7 EXON Missense_D571E exm65676 1 64036764 [A/G] NM_032437 EFCAB7 EXON Missense_I594V exm65681 1 64038174 [T/C] NM_032437 EFCAB7 EXON Missense_S626F rs11800361 1 64046766 [T/G] rs17125166 1 64053755 [A/G] rs11208250 1 64056411 [A/C] exm65686 1 64059266 [A/C] NM_002633 PGM1 EXON Missense_A36E exm65690 1 64059403 [T/G] NM_002633 PGM1 EXON Missense_G82W rs2269266 1 64079677 [A/G] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent rs927019 1 64082279 [A/G] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent rs2301059 1 64086901 [A/G] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent indel.4001 1 64089357 [I/D] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON exm65698 1 64089400 [T/A] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Silent,Silent,Missense_E90V exm65701 1 64089432 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent exm65704 1 64095111 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_I88V,Silent,Missense_I106V exm65716 1 64097343 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_S191L,Silent,Missense_S209L exm65719 1 64097390 [C/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_A207P,Missense_A10P,Missense_A225P exm1858140 1 64097421 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_R217Q,Missense_R20Q,Missense_R235Q exm65721 1 64097432 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_R221C,Missense_R24C,Missense_R239C rs2269252 1 64098065 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent variant.4003 1 64101908 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Nonsense_R293X,Nonsense_R96X,Nonsense_R311X rs2269248 1 64102114 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent exm65742 1 64104430 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_A368V,Missense_A171V,Missense_A386V exm65743 1 64104434 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_S369R,Missense_S172R,Missense_S387R exm65746 1 64104470 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Synonymous_T381T,Synonymous_T184T,Synonymous_T399T exm-rs2269241 1 64108771 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs2269240 1 64109264 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent exm65756 1 64114301 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_Y420H,Missense_Y223H,Missense_Y438H exm65762 1 64117459 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_T467N,Missense_T270N,Missense_T485N rs2269236 1 64118212 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent exm65770 1 64120039 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_V501I,Missense_V304I,Missense_V519I exm65774 1 64120111 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_V525I,Missense_V328I,Missense_V543I var_1_64120142 1 64120142 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs6671606 1 64123868 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent exm65782 1 64125320 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_R555C,Missense_R358C,Missense_R573C rs4643 1 64125439 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Silent,Silent,Silent rs10909 1 64125544 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Silent,Silent,Silent exm-rs2749097 1 64127468 [G/C] rs1740402 1 64140572 [A/G] rs12127151 1 64149699 [T/G] rs2658399 1 64153652 [T/C] rs4915644 1 64159344 [A/G] rs17125348 1 64161699 [T/C] exm2252590 1 64165243 [A/C] rs2819157 1 64166213 [T/C] rs1506399 1 64173484 [A/C] rs937805 1 64173753 [A/C] rs2819159 1 64174386 [A/G] rs4915914 1 64177299 [A/G] rs1463942 1 64209711 [T/C] rs1701530 1 64217123 [T/C] rs17125501 1 64221188 [T/C] rs2643225 1 64221794 [A/C] rs2819130 1 64231541 [A/G] rs659406 1 64256018 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs1542805 1 64262269 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs640407 1 64267606 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent exm2265015 1 64277035 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs596985 1 64277035 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs2819143 1 64281782 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs685458 1 64295971 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs663458 1 64312919 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs2132161 1 64313498 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs649608 1 64313696 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs11208306 1 64320736 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs11208308 1 64340452 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs11802375 1 64341732 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs855845 1 64354536 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs855835 1 64357060 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs855823 1 64361960 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs705529 1 64381917 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs6671129 1 64394124 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs6660751 1 64412138 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs285339 1 64442169 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs285364 1 64459519 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs285370 1 64462582 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs285386 1 64470166 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent exm65789 1 64475021 [T/C] NM_005012,NM_001083592 ROR1,ROR1 EXON Missense_W46R,Missense_W46R rs834485 1 64484485 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs834487 1 64486207 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs1746927 1 64498297 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs705532 1 64508126 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent variant.4006 1 64516388 [T/C] NM_005012,NM_001083592 ROR1,ROR1 EXON Missense_S161L,Missense_S161L rs863087 1 64525961 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs6676244 1 64531564 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs1772618 1 64540133 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs2360720 1 64542800 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs834343 1 64545124 [A/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs834350 1 64549091 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs6687610 1 64550630 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs1619058 1 64551422 [A/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs7533927 1 64555255 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs2806541 1 64566396 [A/G] NM_005012,NM_001083592,NR_110666 ROR1,ROR1,ROR1-AS1 Silent,Silent,Silent rs7521771 1 64573067 [T/G] NM_005012,NM_001083592,NR_110666,NR_110665 ROR1,ROR1,ROR1-AS1,ROR1-AS1 Silent,Silent,Silent,Silent rs2806537 1 64579157 [T/C] NM_005012,NM_001083592,NR_110665 ROR1,ROR1,ROR1-AS1 Silent,Silent,Silent rs6677577 1 64579350 [A/G] NM_005012,NM_001083592,NR_110665 ROR1,ROR1,ROR1-AS1 EXON Silent,Silent,Silent rs17357054 1 64582357 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs1408417 1 64590697 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs7528814 1 64601845 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent exm65825 1 64608204 [A/G] NM_005012,NM_001083592 ROR1,ROR1 EXON Missense_A349T,Missense_A349T exm65828 1 64608211 [A/G] NM_005012,NM_001083592 ROR1,ROR1 EXON Missense_R351H,Missense_R351H rs6588083 1 64614011 [T/C] NM_005012 ROR1 Silent rs1535872 1 64615775 [A/G] NM_005012 ROR1 Silent exm2264847 1 64615775 [A/G] NM_005012 ROR1 Silent rs4619008 1 64622069 [A/G] NM_005012 ROR1 Silent rs4565754 1 64624403 [A/G] NM_005012 ROR1 Silent exm65842 1 64624796 [T/C] NM_005012 ROR1 EXON Missense_S436L exm65845 1 64624816 [T/C] NM_005012 ROR1 EXON Missense_P443S exm65848 1 64643144 [T/C] NM_005012 ROR1 EXON Missense_R474C exm65849 1 64643145 [A/G] NM_005012 ROR1 EXON Missense_R474H exm65852 1 64643277 [T/C] NM_005012 ROR1 EXON Missense_T518M rs7527017 1 64643277 [T/C] NM_005012 ROR1 EXON Missense_T518M exm65855 1 64643363 [T/C] NM_005012 ROR1 EXON Missense_P547S exm65861 1 64643452 [G/C] NM_005012 ROR1 EXON Missense_S576R exm65874 1 64643793 [T/C] NM_005012 ROR1 EXON Missense_L690P exm65877 1 64643954 [A/G] NM_005012 ROR1 EXON Missense_V744I rs11208377 1 64647608 [T/C] rs4266926 1 64658597 [A/G] rs34460133 1 64662030 [T/C] rs7518535 1 64663192 [A/G] rs7545208 1 64665046 [A/C] indel.4008 1 64669761 [I/D] NM_152489 UBE2U EXON indel.4009 1 64669795 [I/D] NM_152489 UBE2U EXON exm65904 1 64676452 [T/C] NM_152489 UBE2U EXON Missense_I90T var_1_64676467 1 64676468 [D/I] NM_152489 UBE2U EXON rs2806532 1 64677055 [A/G] NM_152489 UBE2U Silent exm65907 1 64680581 [A/C] NM_152489 UBE2U EXON Missense_R141S rs7526950 1 64684038 [T/C] NM_152489 UBE2U Silent variant.4012 1 64686540 [A/G] NM_152489 UBE2U Silent exm65911 1 64686577 [T/C] NM_152489 UBE2U EXON Missense_R165C rs17126246 1 64693901 [A/G] NM_152489 UBE2U Silent variant.4013 1 64698277 [A/C] NM_152489 UBE2U EXON Nonsense_Y180X variant.4014 1 64698303 [A/C] NM_152489 UBE2U EXON Nonsense_S189X rs2029868 1 64698411 [T/C] NM_152489 UBE2U Silent exm65916 1 64707395 [T/A] NM_152489 UBE2U EXON Missense_H219L rs10789152 1 64709891 [A/G] NM_152489 UBE2U EXON Silent rs705540 1 64725787 [A/G] rs11588217 1 64727239 [A/C] rs705551 1 64737015 [T/C] rs825241 1 64747636 [A/G] rs825239 1 64749809 [A/G] rs705559 1 64752871 [A/G] rs17126275 1 64753640 [A/G] rs12727354 1 64756763 [A/G] rs825213 1 64762226 [A/G] rs6683502 1 64762259 [A/C] rs6703725 1 64773787 [A/G] rs17126315 1 64775997 [T/C] rs957576 1 64784574 [T/C] rs11208420 1 64790514 [A/G] rs4915972 1 64791688 [T/C] rs1390475 1 64800809 [T/C] rs10889478 1 64804890 [T/C] rs1908635 1 64805503 [A/C] rs17126413 1 64806201 [T/C] rs11208433 1 64827193 [A/G] rs1514966 1 64834710 [A/G] rs11208437 1 64837143 [T/C] rs7523530 1 64837796 [A/G] rs7349133 1 64841469 [A/G] rs6695900 1 64862973 [T/C] rs11208446 1 64868352 [A/G] rs1155542 1 64871720 [T/C] rs11208448 1 64892397 [A/G] rs9988591 1 64894096 [T/C] rs305535 1 64914437 [A/C] rs12139788 1 64922435 [T/C] rs11208456 1 64923930 [T/C] rs305549 1 64925123 [A/G] rs7517824 1 64941609 [T/C] NM_020925 CACHD1 Silent rs305540 1 64951754 [A/G] NM_020925 CACHD1 Silent rs1932028 1 64974601 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent exm2260550 1 65000767 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent exm65930 1 65016278 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_R67Q,Silent rs12408795 1 65016681 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs6660732 1 65031000 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs11208467 1 65031202 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent exm65935 1 65047870 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_R98H,Silent rs12068675 1 65049950 [A/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs11208478 1 65067339 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent exm65942 1 65068550 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_T158A,Silent variant.4017 1 65068580 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Nonsense_R168X,Silent rs7533098 1 65074489 [A/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs17126766 1 65079551 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs1436756 1 65089766 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs12022915 1 65093542 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent exm65955 1 65095158 [G/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_R213P,Silent exm65959 1 65098362 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_T242I,Silent exm1860409 1 65099758 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_R274Q,Silent rs7552434 1 65103510 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent exm65981 1 65113552 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_G409S,Missense_G113S exm2252614 1 65113680 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Synonymous_A451A,Synonymous_A155A exm66003 1 65119549 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_R550Q,Missense_R254Q exm66009 1 65124398 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_T598I,Missense_T302I rs12565594 1 65125167 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent exm66024 1 65130217 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_V711I,Missense_V415I exm66025 1 65130249 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_M721I,Missense_M425I exm1860516 1 65130296 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_N737S,Missense_N441S exm66034 1 65131780 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_T773A,Missense_T477A rs11208499 1 65135068 [A/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent exm66050 1 65139130 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_F904L,Missense_F608L exm66052 1 65139146 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_A909V,Missense_A613V var_1_65139152 1 65139152 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent exm66063 1 65142603 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_E1001K,Missense_E705K rs2499823 1 65143441 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent exm66066 1 65143877 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_M1043T,Missense_M747T exm66073 1 65145283 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_E1084K,Missense_E788K exm66081 1 65145386 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_R1118H,Missense_R822H exm66082 1 65145421 [A/T] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_S1130T,Missense_S834T rs12044266 1 65146290 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs3828064 1 65147002 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Synonymous_H1156H,Synonymous_H860H exm66087 1 65147013 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_G1160D,Missense_G864D exm66101 1 65157122 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_P1235S,Missense_P939S exm66102 1 65157126 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_Q1236R,Missense_Q940R exm66106 1 65157212 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_V1265I,Missense_V969I exm66108 1 65157225 [C/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_T1269S,Missense_T973S rs1926304 1 65161230 [T/G] rs11208512 1 65170405 [T/C] rs11799558 1 65180463 [T/G] exm2252617 1 65186794 [A/G] rs10493365 1 65190713 [T/C] rs2375473 1 65200056 [A/G] rs6676160 1 65221842 [A/G] NM_018211 RAVER2 Silent exm2252619 1 65243316 [T/C] NM_018211 RAVER2 EXON Synonymous_T109T exm66118 1 65243425 [A/G] NM_018211 RAVER2 EXON Missense_I146V exm66121 1 65243477 [A/G] NM_018211 RAVER2 EXON Missense_R163H exm66145 1 65255129 [A/G] NM_018211 RAVER2 EXON Missense_S346N exm66163 1 65273018 [T/C] NM_018211 RAVER2 EXON Missense_T501M exm66164 1 65273026 [A/G] NM_018211 RAVER2 EXON Missense_M504V exm66166 1 65273077 [A/G] NM_018211 RAVER2 EXON Missense_N521D exm66170 1 65278472 [T/C] NM_018211 RAVER2 EXON Missense_R565W exm66172 1 65280459 [A/G] NM_018211 RAVER2 EXON Missense_S609N rs11208527 1 65294331 [A/G] NM_018211 RAVER2 Silent rs1048007 1 65297240 [A/G] NM_018211 RAVER2 EXON Silent variant.4023 1 65300334 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Nonsense_Q1126X,Nonsense_Q1125X,Nonsense_Q1126X,Nonsense_Q1126X,Nonsense_Q1126X,Nonsense_Q1126X,Nonsense_Q1126X,Nonsense_Q1126X rs2780815 1 65301611 [T/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm66205 1 65305287 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Synonymous_D947D,Synonymous_D946D,Synonymous_D947D,Synonymous_D947D,Synonymous_D947D,Synonymous_D947D,Synonymous_D947D,Synonymous_D947D exm66213 1 65307190 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_N833S,Missense_N832S,Missense_N833S,Missense_N833S,Missense_N833S,Missense_N833S,Missense_N833S,Missense_N833S exm2233721 1 65312341 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_D660N,Missense_D659N,Missense_D660N,Missense_D660N,Missense_D660N,Missense_D660N,Missense_D660N,Missense_D660N rs17127063 1 65312342 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Synonymous_R659R,Synonymous_R658R,Synonymous_R659R,Synonymous_R659R,Synonymous_R659R,Synonymous_R659R,Synonymous_R659R,Synonymous_R659R exm66228 1 65312368 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_V651M,Missense_V650M,Missense_V651M,Missense_V651M,Missense_V651M,Missense_V651M,Missense_V651M,Missense_V651M rs310219 1 65315298 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm66238 1 65321324 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_R506C,Missense_R505C,Missense_R506C,Missense_R506C,Missense_R506C,Missense_R506C,Missense_R506C,Missense_R506C exm66249 1 65330499 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_S383G,Missense_S383G,Missense_S383G,Missense_S383G,Missense_S383G,Missense_S383G,Missense_S383G,Missense_S383G exm66250 1 65330568 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_R360W,Missense_R360W,Missense_R360W,Missense_R360W,Missense_R360W,Missense_R360W,Missense_R360W,Missense_R360W exm2252624 1 65339122 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Synonymous_Y138Y,Synonymous_Y138Y,Synonymous_Y138Y,Synonymous_Y138Y,Synonymous_Y138Y,Synonymous_Y138Y,Synonymous_Y138Y,Synonymous_Y138Y rs3790541 1 65341567 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs310209 1 65345616 [A/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm66280 1 65348981 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_I62V,Missense_I62V,Missense_I62V,Missense_I62V,Missense_I62V,Missense_I62V,Missense_I62V,Missense_I62V exm66282 1 65349065 [G/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_P34A,Missense_P34A,Missense_P34A,Missense_P34A,Missense_P34A,Missense_P34A,Missense_P34A,Missense_P34A rs310202 1 65349544 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs310199 1 65350122 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7529428 1 65356951 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12563017 1 65381861 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7539178 1 65383002 [A/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10889503 1 65389835 [T/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10889505 1 65390765 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7519042 1 65404215 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1353595 1 65405070 [A/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17127168 1 65408513 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4916014 1 65421058 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4915675 1 65427476 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7545743 1 65439566 [A/G] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs555038 1 65472323 [A/G] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs535857 1 65492194 [A/G] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs3014974 1 65503789 [T/C] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs11208574 1 65508424 [A/G] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs11208576 1 65512968 [A/C] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs6588109 1 65516055 [C/G] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs1011210 1 65526176 [T/C] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs6673673 1 65546924 [T/C] rs12023280 1 65552976 [A/G] rs2375675 1 65553193 [A/C] rs6699671 1 65557876 [A/C] rs17127323 1 65571312 [T/C] rs7524607 1 65573794 [A/G] rs10889520 1 65581487 [A/G] rs11208591 1 65583858 [A/G] rs12566370 1 65584570 [A/G] rs6696301 1 65586815 [A/G] rs17127359 1 65593407 [T/C] exm2260561 1 65608909 [A/G] rs2375754 1 65611633 [A/G] rs10789171 1 65619880 [A/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs12030227 1 65644186 [T/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs7549901 1 65653425 [T/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs6677316 1 65658412 [A/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs7526688 1 65674836 [A/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent exm2264849 1 65678454 [A/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs1889925 1 65687556 [A/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs10465850 1 65699203 [T/C] rs12032616 1 65703484 [A/G] rs7539419 1 65708834 [A/G] rs1889929 1 65710726 [A/G] rs11208616 1 65723851 [A/G] rs724685 1 65726516 [A/G] rs2477786 1 65732242 [T/C] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent rs1749972 1 65736258 [A/C] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent rs7511810 1 65753072 [A/G] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent rs2985902 1 65762640 [T/C] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent rs6677968 1 65776702 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs4147109 1 65782290 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs10493374 1 65783231 [T/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs1359533 1 65803765 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs7528114 1 65805144 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs2375699 1 65808281 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent variant.4026 1 65830473 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs7537733 1 65838229 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs6588140 1 65839065 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs10889546 1 65851759 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent exm66355 1 65852538 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_I290V,Missense_I277V,Missense_I347V exm66357 1 65852556 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_V296M,Missense_V283M,Missense_V353M exm66358 1 65852569 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_M300T,Missense_M287T,Missense_M357T newrs144924736 1 65852612 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Synonymous_K314K,Synonymous_K301K,Synonymous_K371K exm66373 1 65855298 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_L429F,Missense_L416F,Missense_L486F exm66375 1 65858137 [A/T] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_C441S,Missense_C428S,Missense_C498S exm66379 1 65858222 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_N469S,Missense_N456S,Missense_N526S exm66388 1 65858360 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_A515V,Missense_A502V,Missense_A572V exm66389 1 65858368 [C/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_P518A,Missense_P505A,Missense_P575A exm66393 1 65858462 [A/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_H549P,Missense_H536P,Missense_H606P rs11208645 1 65861798 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs10889548 1 65864220 [T/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent exm66411 1 65864561 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_P645S,Missense_P632S,Missense_P702S exm66416 1 65867495 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_S663L,Missense_S650L,Missense_S720L exm66418 1 65867519 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_S671N,Missense_S658N,Missense_S728N rs4655762 1 65869274 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent exm66423 1 65871579 [T/A] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_T695S,Missense_T682S,Missense_T752S exm66431 1 65871793 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_R766H,Missense_R753H,Missense_R823H exm66432 1 65871805 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_S770L,Missense_S757L,Missense_S827L rs3818513 1 65874037 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent exm66442 1 65877013 [T/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_E848D,Missense_E835D,Missense_E905D rs12145690 1 65887013 [A/C] NM_017526,NM_001198683,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Silent,Silent,Silent,Silent,Silent,Silent rs13306523 1 65890990 [T/C] NM_017526,NM_001198683,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Synonymous_L7L,Synonymous_L7L,Silent,Silent,Silent,Synonymous_L16L exm66454 1 65891031 [T/G] NM_017526,NM_001198683,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Missense_L21R,Missense_L21R,Silent,Silent,Silent,Missense_L30R rs12077210 1 65894160 [T/C] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT Silent,Silent,Silent,Silent,Silent rs7534511 1 65895130 [A/G] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT Silent,Silent,Silent,Silent,Silent exm66458 1 65895599 [T/G] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Missense_H49Q,Silent,Silent,Silent,Missense_H58Q exm66460 1 65895651 [T/C] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Missense_R67W,Silent,Silent,Silent,Missense_R76W rs9436301 1 65895927 [T/C] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT Silent,Silent,Silent,Silent,Silent rs9436748 1 65911672 [T/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs6588147 1 65935494 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs2025803 1 65946506 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs17127673 1 65955725 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs1327121 1 65957337 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs1327115 1 65966839 [T/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs10889557 1 65970704 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs2767485 1 65978917 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs1475397 1 65983158 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs1171278 1 65988146 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent exm-rs1751492 1 65992625 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs6697315 1 65993556 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs10749753 1 65998467 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs1177681 1 65999119 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs10158279 1 66033696 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm66477 1 66036441 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_K109R,Missense_K109R,Missense_K109R,Missense_K109R,Missense_K109R,Missense_K109R exm66480 1 66038009 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_D124G,Missense_D124G,Missense_D124G,Missense_D124G,Missense_D124G,Missense_D124G exm66482 1 66038068 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_V144L,Missense_V144L,Missense_V144L,Missense_V144L,Missense_V144L,Missense_V144L rs11208675 1 66045424 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs12059300 1 66047072 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs12042877 1 66053148 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs2154380 1 66057441 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm66493 1 66058456 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_K204R,Missense_K204R,Missense_K204R,Missense_K204R,Missense_K204R,Missense_K204R exm66498 1 66058503 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_V220I,Missense_V220I,Missense_V220I,Missense_V220I,Missense_V220I,Missense_V220I exm66499 1 66058513 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_Q223R,Missense_Q223R,Missense_Q223R,Missense_Q223R,Missense_Q223R,Missense_Q223R exm66509 1 66067110 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_V344I,Missense_V344I,Missense_V344I,Missense_V344I,Missense_V344I,Missense_V344I exm66515 1 66067326 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_H416Y,Missense_H416Y,Missense_H416Y,Missense_H416Y,Missense_H416Y,Missense_H416Y variant.4030 1 66067643 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_R468K,Missense_R468K,Missense_R468K,Missense_R468K,Missense_R468K,Missense_R468K exm66526 1 66070891 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_P525L,Missense_P525L,Missense_P525L,Missense_P525L,Missense_P525L,Missense_P525L rs4606347 1 66073361 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm66528 1 66074545 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_Q571H,Missense_Q571H,Missense_Q571H,Missense_Q571H,Missense_Q571H,Missense_Q571H var_1_66074585 1 66074585 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm1863137 1 66075690 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_A605S,Missense_A605S,Missense_A605S,Missense_A605S,Missense_A605S,Missense_A605S exm66534 1 66075712 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_R612H,Missense_R612H,Missense_R612H,Missense_R612H,Missense_R612H,Missense_R612H rs6678033 1 66077624 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm66543 1 66081791 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_T699M,Missense_T699M,Missense_T699M,Missense_T699M,Missense_T699M,Missense_T699M exm66550 1 66083694 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_V754M,Missense_V754M,Missense_V754M,Missense_V754M,Missense_V754M,Missense_V754M exm66552 1 66083782 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_I783T,Missense_I783T,Missense_I783T,Missense_I783T,Missense_I783T,Missense_I783T rs4567312 1 66089582 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm-rs6700896 1 66089782 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm66572 1 66101898 [A/G] NM_002303 LEPR EXON Missense_I900V rs1805096 1 66102257 [A/G] NM_002303 LEPR EXON Synonymous_P1019P exm66590 1 66102447 [A/G] NM_002303 LEPR EXON Missense_T1083A exm66603 1 66102679 [T/C] NM_002303 LEPR EXON Missense_M1160T exm-rs1892534 1 66105944 [T/C] rs4655772 1 66130398 [A/G] rs12239571 1 66140817 [A/G] rs10158937 1 66144876 [A/C] exm-rs4420065 1 66161461 [T/C] rs6667615 1 66162630 [A/G] rs7524581 1 66166499 [T/C] exm-rs12753193 1 66169679 [A/G] rs7539471 1 66185403 [A/G] rs10789198 1 66202755 [A/G] rs11208726 1 66205540 [T/C] rs4593796 1 66220046 [A/G] rs12401401 1 66231308 [A/G] rs11808116 1 66236207 [T/C] rs12046844 1 66238379 [A/G] rs4551569 1 66260999 [T/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs11208755 1 66269066 [T/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs4384209 1 66279125 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs7517475 1 66298161 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs10493388 1 66308651 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent exm-rs10493389 1 66310865 [T/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs12125534 1 66311760 [T/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs6684621 1 66315450 [T/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs2801581 1 66326917 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs1316871 1 66339048 [T/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent exm2252660 1 66339048 [T/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs12760605 1 66341764 [T/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs4655804 1 66352755 [T/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs12744291 1 66362971 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs4329483 1 66374004 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent newrs141332901 1 66379041 [T/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B EXON Silent,Silent,Silent,Missense_V15G rs17451403 1 66387487 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs17451451 1 66388153 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs2310752 1 66392405 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs2997091 1 66399635 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs12568672 1 66411430 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs1937455 1 66416939 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs10789205 1 66426100 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs12096433 1 66430203 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs17128166 1 66438365 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs1937457 1 66446787 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs2253745 1 66457244 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent exm66612 1 66458614 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Silent,Silent,Silent,Silent,Missense_E9K exm66614 1 66458661 [C/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Silent,Silent,Silent,Silent,Missense_E24D exm66617 1 66458762 [A/T] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Silent,Silent,Silent,Silent,Missense_F58Y rs7534143 1 66470379 [T/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs12757542 1 66496108 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs7522003 1 66500298 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent exm2252665 1 66509014 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NR_123718 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,LOC101927139 Silent,Silent,Silent,Silent,Silent,Silent rs2228693 1 66509014 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NR_123718 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,LOC101927139 Silent,Silent,Silent,Silent,Silent,Silent rs7530150 1 66513674 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NR_123718 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,LOC101927139 Silent,Silent,Silent,Silent,Silent,Silent rs12040042 1 66517050 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs6588184 1 66524757 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs12037891 1 66527232 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs7552924 1 66538408 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs6588186 1 66547009 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs12406476 1 66555792 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs4655595 1 66558759 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs650440 1 66580943 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs12745871 1 66587376 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs17128424 1 66587407 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs539322 1 66589748 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs563573 1 66598763 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs596662 1 66603875 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs2503174 1 66609154 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs1604269 1 66615238 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs17128467 1 66620844 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs2485381 1 66627732 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs12135034 1 66646184 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs11208816 1 66663239 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs486438 1 66674663 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs1416312 1 66682087 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs544361 1 66683452 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs6588192 1 66700873 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs11804879 1 66713050 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent exm66621 1 66713196 [G/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Missense_A20G,Missense_A112G,Missense_A112G,Missense_A37G,Missense_A97G exm2268897 1 66714584 [T/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs12043611 1 66716207 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent variant.4034 1 66723209 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs12021574 1 66736001 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs543589 1 66737060 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs594965 1 66747613 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs519044 1 66756717 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs524770 1 66766222 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs6689595 1 66776137 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs910693 1 66796248 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent exm2275457 1 66798124 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Silent,Silent,Silent,Silent,Silent,Missense_G18S rs518476 1 66801552 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent rs693826 1 66802591 [T/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent rs1890197 1 66802772 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent rs17128837 1 66828722 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.4036 1 66837994 [D/I] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B exm66704 1 66838203 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Missense_D593N,Missense_D685N,Missense_D685N,Missense_D610N,Missense_D670N,Missense_D513N,Missense_D452N exm66706 1 66838257 [A/T] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Missense_S611C,Missense_S703C,Missense_S703C,Missense_S628C,Missense_S688C,Missense_S531C,Missense_S470C exm66707 1 66838270 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Missense_T615M,Missense_T707M,Missense_T707M,Missense_T632M,Missense_T692M,Missense_T535M,Missense_T474M exm1865410 1 66838314 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Missense_T630A,Missense_T722A,Missense_T722A,Missense_T647A,Missense_T707A,Missense_T550A,Missense_T489A rs783067 1 66838733 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs783060 1 66846766 [A/C] rs1194486 1 66855387 [A/G] rs11208847 1 66866041 [T/C] rs12093028 1 66887451 [A/G] rs12140647 1 66905141 [A/C] rs783435 1 66915125 [A/G] rs10889612 1 66920654 [T/C] rs7539015 1 66926566 [T/G] rs10889617 1 66929805 [A/G] rs699260 1 66930964 [A/C] rs783322 1 66941630 [A/C] rs814146 1 66945358 [T/C] rs1025993 1 66957337 [A/C] rs1338211 1 66959434 [T/C] rs765685 1 66965475 [A/G] rs17432003 1 66967395 [A/G] rs7555470 1 66969013 [A/C] rs2121047 1 66969954 [T/C] rs6674096 1 66972478 [A/G] rs12093875 1 66988401 [T/C] rs2121052 1 66988477 [A/G] rs10493407 1 66991699 [T/G] rs7532400 1 66998436 [A/C] rs4655616 1 67002765 [A/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs1415974 1 67005503 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs1338189 1 67030831 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs920987 1 67043120 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs1445573 1 67047442 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs10749763 1 67062126 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs11208917 1 67063385 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs6588207 1 67066555 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs11208920 1 67075312 [A/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs11208924 1 67083647 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs11208927 1 67089561 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent exm66716 1 67091560 [G/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_G14A,Missense_G14A,Missense_G14A,Missense_G14A variant.4037 1 67091593 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_T25I,Missense_T25I,Missense_T25I,Missense_T25I rs5008753 1 67092248 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs6696812 1 67100309 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent variant.4038 1 67101698 [T/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Silent,Synonymous_S57S,Silent exm66728 1 67108538 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_E68K,Missense_E68K,Missense_E92K,Missense_E96K exm66733 1 67109277 [G/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_E88Q,Missense_E88Q,Missense_E112Q,Missense_E116Q rs7526812 1 67109335 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_K107R,Missense_K107R,Missense_K131R,Missense_K135R exm66735 1 67109335 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_K107R,Missense_K107R,Missense_K131R,Missense_K135R rs6689755 1 67113050 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs6656705 1 67122504 [T/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs6681460 1 67123057 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent exm-rs11208940 1 67127242 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent exm66750 1 67133217 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Missense_R135H,Missense_R159H,Missense_R163H variant.4043 1 67142685 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent var_1_67145440 1 67145440 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent exm66774 1 67147659 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Silent,Missense_A308T,Missense_A312T exm66776 1 67147696 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Silent,Missense_P320L,Missense_P324L exm66798 1 67148026 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Silent,Missense_S430L,Missense_S434L rs10789215 1 67151185 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent exm1867076 1 67155874 [C/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_S283C,Missense_S291C,Missense_S482C,Missense_S486C rs11208949 1 67159658 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent exm2252709 1 67160602 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs1325267 1 67160814 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent indel.4045 1 67161063 [I/D] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 exm66821 1 67161137 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Missense_V340I,Missense_V531I,Missense_V535I rs12117649 1 67168606 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs7515848 1 67188829 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs536410 1 67191084 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs9988481 1 67196277 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent exm66839 1 67199543 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_V474I,Missense_V480I,Missense_V671I,Missense_V675I exm66848 1 67205174 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_D533N,Missense_D539N,Missense_D730N,Missense_D734N rs604737 1 67209088 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Silent,Silent,Silent variant.4046 1 67220432 [T/C] NM_152665 TCTEX1D1 EXON Nonsense_R31X exm66873 1 67220450 [T/C] NM_152665 TCTEX1D1 EXON Missense_R37C rs2274987 1 67221387 [T/C] NM_152665 TCTEX1D1 Silent rs1391547 1 67231916 [T/C] NM_152665 TCTEX1D1 Silent rs12727422 1 67235320 [A/C] NM_152665 TCTEX1D1 Silent exm66875 1 67236097 [A/T] NM_152665 TCTEX1D1 EXON Missense_E49D variant.4047 1 67236107 [T/C] NM_152665 TCTEX1D1 EXON Nonsense_Q53X exm66878 1 67236126 [A/G] NM_152665 TCTEX1D1 EXON Missense_R59H newrs3816989 1 67242087 [A/G] NM_152665 TCTEX1D1 Silent exm66887 1 67242087 [A/G] NM_152665 TCTEX1D1 Silent rs2133173 1 67243024 [A/C] NM_152665 TCTEX1D1 EXON Missense_L143I exm66889 1 67243024 [A/C] NM_152665 TCTEX1D1 EXON Missense_L143I rs11208957 1 67257871 [T/C] rs7533363 1 67261079 [T/C] rs559809 1 67262748 [A/G] indel.4049 1 67263745 [I/D] NM_005478 INSL5 EXON variant.4050 1 67263752 [A/G] NM_005478 INSL5 EXON Nonsense_Q118X var_1_67263775 1 67263775 [T/G] NM_005478 INSL5 EXON Nonsense_S110X var_1_67263815 1 67263815 [A/G] NM_005478 INSL5 EXON Nonsense_Q97X exm66896 1 67263817 [C/G] NM_005478 INSL5 EXON Missense_G96A exm66898 1 67263829 [T/C] NM_005478 INSL5 EXON Missense_R92H exm1867627 1 67263856 [A/G] NM_005478 INSL5 EXON Missense_P83L exm66900 1 67263892 [T/C] NM_005478 INSL5 EXON Missense_R71H var_1_67266730 1 67266730 [T/C] NM_005478 INSL5 EXON Missense_A59T exm66905 1 67266756 [T/A] NM_005478 INSL5 EXON Missense_Q50L rs549148 1 67266756 [T/A] NM_005478 INSL5 EXON Missense_Q50L exm1867633 1 67266798 [A/G] NM_005478 INSL5 EXON Missense_T36I exm66910 1 67266823 [A/G] NM_005478 INSL5 EXON Missense_L28F exm66911 1 67266824 [T/A] NM_005478 INSL5 EXON Missense_R27S exm66913 1 67266844 [A/G] NM_005478 INSL5 EXON Missense_R21W exm66915 1 67266874 [A/G] NM_005478 INSL5 EXON Missense_F11L indel.4055 1 67266880 [D/I] NM_005478 INSL5 EXON exm66917 1 67279835 [A/G] NM_024763 WDR78 EXON Missense_S842F rs7550905 1 67280515 [A/G] NM_024763 WDR78 Silent rs17495916 1 67283439 [T/C] NM_024763 WDR78 Silent newrs145354917 1 67288044 [A/C] NM_024763 WDR78 EXON Synonymous_R832R exm66924 1 67288045 [T/C] NM_024763 WDR78 EXON Missense_R832Q indel.4057 1 67288063 [D/I] NM_024763 WDR78 EXON indel.4058 1 67288128 [I/D] NM_024763 WDR78 EXON variant.4059 1 67288201 [T/C] NM_024763 WDR78 Silent exm66930 1 67292502 [T/C] NM_024763 WDR78 Silent exm66931 1 67292503 [A/G] NM_024763 WDR78 EXON Missense_T780I exm66935 1 67292545 [T/G] NM_024763 WDR78 EXON Missense_A766E exm66937 1 67292585 [T/C] NM_024763 WDR78 EXON Missense_V753I exm66947 1 67292666 [A/C] NM_024763 WDR78 EXON Missense_D726Y exm66948 1 67292706 [A/C] NM_024763 WDR78 EXON Missense_W712C exm66950 1 67293494 [A/C] NM_024763 WDR78 Silent exm66952 1 67293528 [T/A] NM_024763 WDR78 EXON Missense_N693K exm66955 1 67293582 [G/C] NM_024763 WDR78 EXON Missense_I675M rs7548267 1 67297122 [A/G] NM_024763 WDR78 Silent variant.4063 1 67299267 [A/C] NM_024763 WDR78 Silent exm66958 1 67299305 [T/C] NM_024763 WDR78 EXON Missense_R659Q variant.4064 1 67299306 [A/G] NM_024763 WDR78 EXON Nonsense_R659X indel.4065 1 67299345 [I/D] NM_024763 WDR78 EXON variant.4066 1 67299381 [A/G] NM_024763 WDR78 EXON Nonsense_R634X variant.4067 1 67299674 [T/C] NM_024763 WDR78 EXON Missense_D631N var_1_67301308 1 67301308 [A/C] NM_024763 WDR78 Silent exm66974 1 67303346 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Silent,Missense_K543R exm66977 1 67303430 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_R515K,Missense_R515K exm66979 1 67303460 [T/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_Y505S,Missense_Y505S rs11208966 1 67306054 [A/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent exm66981 1 67306176 [T/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_S490R,Missense_S490R newrs143910870 1 67306226 [A/G] NM_024763,NM_207014 WDR78,WDR78 EXON Nonsense_R474X,Nonsense_R474X rs12030322 1 67306616 [A/G] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent exm66991 1 67313187 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_R424H,Missense_R424H exm66994 1 67313256 [T/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_H401P,Missense_H401P exm66997 1 67313343 [A/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_L372P,Missense_L372P exm66998 1 67313349 [G/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_S370T,Missense_S370T variant.4072 1 67327825 [A/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent exm67003 1 67327894 [A/G] NM_024763,NM_207014 WDR78,WDR78 EXON Synonymous_S344S,Synonymous_S344S exm2252724 1 67327894 [A/G] NM_024763,NM_207014 WDR78,WDR78 EXON Synonymous_S344S,Synonymous_S344S exm67010 1 67337145 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_N283S,Missense_N283S rs1280338 1 67337285 [A/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent rs1925400 1 67352960 [T/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent exm67013 1 67356893 [A/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_I196T,Missense_I196T exm67018 1 67359042 [T/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_P134T,Missense_P134T exm67019 1 67359053 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_Y130C,Missense_Y130C exm67024 1 67370946 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_V95M,Missense_V95M exm67027 1 67370978 [T/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_A84E,Missense_A84E exm67033 1 67390438 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_G26D,Missense_G26D exm67036 1 67390468 [C/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_G16A,Missense_G16A indel.4074 1 67411991 [D/I] NM_001350530,NM_001077703,NM_001077700,NM_001278215,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON rs12090955 1 67412261 [T/G] NM_001350530,NM_001077703,NM_001077700,NM_001278215,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11208975 1 67413618 [T/C] NM_001350530,NM_001077703,NM_001077700,NM_001278215,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.4075 1 67423905 [T/C] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm67057 1 67424637 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_R239H,Missense_R202H,Missense_R202H,Missense_R166H,Missense_R122H,Missense_R166H,Missense_R166H,Missense_R166H,Missense_R86H,Missense_R149H,Missense_R149H rs4553158 1 67436446 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11208979 1 67442275 [T/C] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm67080 1 67450263 [T/C] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_S497P,Missense_S460P,Missense_S460P,Missense_S424P,Missense_S380P,Missense_S424P,Missense_S424P,Missense_S424P,Missense_S344P,Missense_S407P,Missense_S407P variant.4076 1 67450277 [T/C] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Synonymous_G501G,Silent,Synonymous_G464G,Silent,Synonymous_G384G,Synonymous_G428G,Synonymous_G428G,Synonymous_G428G,Silent,Silent,Synonymous_G411G indel.4077 1 67450286 [D/I] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON exm67083 1 67450334 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Synonymous_T520T,Silent,Synonymous_T483T,Silent,Synonymous_T403T,Synonymous_T447T,Synonymous_T447T,Synonymous_T447T,Silent,Silent,Synonymous_T430T exm67089 1 67450431 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_R553G,Silent,Missense_R516G,Silent,Missense_R436G,Silent,Missense_R480G,Missense_R480G,Silent,Silent,Missense_R463G 1KG_1_67450498 1 67450498 [I/D] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON exm67097 1 67452140 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Silent,Missense_N482S,Silent,Missense_N446S,Silent,Missense_N466S,Silent,Silent,Missense_N366S,Missense_N429S,Silent rs17497947 1 67457199 [T/G] rs4486425 1 67460791 [T/C] rs17129595 1 67473378 [A/G] NM_015139 SLC35D1 Silent exm67102 1 67486092 [T/C] NM_015139 SLC35D1 EXON Missense_Y279C exm67104 1 67486114 [T/C] NM_015139 SLC35D1 EXON Missense_A272T exm67106 1 67486131 [T/C] NM_015139 SLC35D1 Silent rs2815361 1 67494591 [T/G] NM_015139 SLC35D1 Silent rs2755251 1 67496425 [A/C] NM_015139 SLC35D1 Silent exm1868328 1 67507941 [T/C] NM_015139 SLC35D1 EXON Missense_Y236C rs2815378 1 67509698 [T/C] NM_015139 SLC35D1 Silent rs1024229 1 67512903 [T/G] NM_015139 SLC35D1 Silent exm67117 1 67512998 [T/C] NM_015139 SLC35D1 EXON Missense_V196I rs2755259 1 67517022 [T/C] NM_015139 SLC35D1 Silent variant.4086 1 67517692 [T/C] NM_015139 SLC35D1 Silent exm67130 1 67518477 [A/G] NM_015139 SLC35D1 EXON Missense_L101F exm67132 1 67518534 [T/C] NM_015139 SLC35D1 EXON Missense_A82T exm67133 1 67518665 [A/T] NM_015139 SLC35D1 EXON Missense_S71T rs4655513 1 67526071 [A/C] rs983111 1 67539356 [T/C] rs10789220 1 67551209 [T/C] rs11806560 1 67558275 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Silent,Silent exm67150 1 67558756 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Silent,Missense_E379K indel.4089 1 67558817 [I/D] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON exm67152 1 67558858 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Silent,Missense_G345R exm67156 1 67559041 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Silent,Missense_M284V indel.4091 1 67559044 [D/I] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON exm67171 1 67560956 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Silent,Missense_V189I indel.4094 1 67561030 [D/I] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON exm67184 1 67561087 [A/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Silent,Missense_M145R exm67186 1 67561090 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Silent,Missense_Q144R newrs145606616 1 67561988 [I/D] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON exm67190 1 67562003 [A/G] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Synonymous_A187A,Synonymous_A116A rs1885276 1 67568824 [T/G] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent rs10749771 1 67573730 [A/G] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent rs7520634 1 67580350 [A/G] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent exm67196 1 67581127 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Missense_E85G,Missense_E85G rs17129664 1 67583298 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent exm67198 1 67591496 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Missense_A58T,Missense_A58T rs3762318 1 67597119 [A/G] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent rs10489631 1 67601115 [A/G] exm-rs11209003 1 67601132 [T/G] rs10789224 1 67605134 [T/C] exm67204 1 67633812 [T/G] NM_144701 IL23R EXON Missense_Q3H exm67218 1 67635211 [A/G] NM_144701 IL23R EXON Missense_R86Q exm67221 1 67648596 [A/G] NM_144701 IL23R EXON Missense_G149R exm67222 1 67648625 [T/C] NM_144701 IL23R EXON Synonymous_Y158Y exm2252741 1 67648625 [T/C] NM_144701 IL23R EXON Synonymous_Y158Y exm67223 1 67648630 [T/C] NM_144701 IL23R EXON Missense_V160A rs10127763 1 67651733 [A/G] NM_144701 IL23R Silent rs6588248 1 67652984 [T/G] NM_144701 IL23R Silent rs2064689 1 67653010 [A/G] NM_144701 IL23R Silent exm2252742 1 67654110 [A/G] NM_144701 IL23R Silent rs4655690 1 67659896 [A/G] NM_144701 IL23R Silent rs10489630 1 67662622 [A/C] NM_144701 IL23R Silent exm67229 1 67666507 [T/G] NM_144701 IL23R EXON Missense_L193F exm67230 1 67666524 [T/C] NM_144701 IL23R EXON Missense_A199V rs2902440 1 67670916 [A/G] NM_144701 IL23R Silent indel.4100 1 67672658 [I/D] NM_144701 IL23R EXON rs7539625 1 67672765 [A/G] NM_144701 IL23R Silent exm-rs11805303 1 67675516 [T/C] NM_144701 IL23R Silent rs790631 1 67676922 [T/C] NM_144701 IL23R Silent exm-rs7517847 1 67681669 [T/G] NM_144701 IL23R Silent rs7530511 1 67685387 [T/C] NM_144701 IL23R EXON Missense_L310P exm67244 1 67685387 [T/C] NM_144701 IL23R EXON Missense_L310P rs10489629 1 67688349 [T/C] NM_144701 IL23R Silent exm-rs2201841 1 67694202 [A/G] NM_144701 IL23R Silent exm-rs11465804 1 67702526 [T/G] NM_144701 IL23R Silent exm67253 1 67705900 [A/G] NM_144701 IL23R EXON Missense_V362I variant.4103 1 67705957 [T/C] NM_144701 IL23R EXON Nonsense_R381X exm67254 1 67705958 [A/G] NM_144701 IL23R EXON Missense_R381Q rs11209026 1 67705958 [A/G] NM_144701 IL23R EXON Missense_R381Q rs6682033 1 67708670 [A/G] NM_144701 IL23R Silent rs6693831 1 67720867 [T/C] NM_144701 IL23R Silent rs10889676 1 67722567 [A/C] NM_144701 IL23R Silent exm67263 1 67724382 [A/C] NM_144701 IL23R EXON Missense_Q487H exm-rs10889677 1 67725120 [A/C] NM_144701 IL23R EXON Silent rs11209030 1 67737775 [A/C] rs12568764 1 67740835 [T/G] rs12119179 1 67747415 [A/C] rs1495965 1 67753508 [T/C] exm-rs924080 1 67760140 [T/C] rs11209045 1 67770799 [A/G] rs12142823 1 67773351 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm67275 1 67786061 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_T4A,Missense_T4A,Missense_T4A,Missense_T4A,Silent,Missense_T4A,Silent exm67276 1 67786066 [A/T] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_F5L,Missense_F5L,Missense_F5L,Missense_F5L,Silent,Missense_F5L,Silent exm67277 1 67786076 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_S9P,Missense_S9P,Missense_S9P,Missense_S9P,Silent,Missense_S9P,Silent exm67278 1 67786088 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_M13V,Missense_M13V,Missense_M13V,Missense_M13V,Silent,Missense_M13V,Silent exm67282 1 67787286 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Synonymous_D26D,Synonymous_D26D,Synonymous_D26D,Synonymous_D26D,Silent,Synonymous_D26D,Silent indel.4105 1 67787305 [I/D] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON exm67289 1 67787353 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_I49V,Missense_I49V,Missense_I49V,Missense_I49V,Silent,Missense_I49V,Silent exm67297 1 67787434 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_R76G,Missense_R76G,Missense_R76G,Missense_R76G,Silent,Missense_R76G,Silent indel.4107 1 67787519 [D/I] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON rs2201584 1 67787715 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm67298 1 67792499 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_R149Q,Missense_R149Q,Missense_R149Q,Missense_R149Q,Silent,Missense_R149Q,Silent rs10489626 1 67793171 [C/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2233759 1 67793935 [A/T] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_C178S,Missense_C178S,Missense_C178S,Missense_C178S,Silent,Missense_C178S,Silent var_1_67794072 1 67794072 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent var_1_67795371 1 67795371 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Nonsense_R256X,Nonsense_R256X,Nonsense_R256X,Nonsense_R256X,Silent,Nonsense_R256X,Silent exm1869053 1 67796346 [T/A] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_N271Y,Missense_N271Y,Missense_N271Y,Missense_N271Y,Silent,Missense_N271Y,Silent exm67320 1 67796454 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_D307N,Missense_D307N,Missense_D307N,Missense_D307N,Silent,Missense_D307N,Silent exm67321 1 67796490 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_E319K,Missense_E319K,Missense_E319K,Missense_E319K,Silent,Missense_E319K,Silent rs6693065 1 67800018 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2268898 1 67800712 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm67324 1 67804336 [T/A] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_M330L,Missense_M330L,Missense_M330L,Missense_M330L,Silent,Missense_M330L,Silent exm67325 1 67804355 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_Y336C,Missense_Y336C,Missense_Y336C,Missense_Y336C,Silent,Missense_Y336C,Silent rs3790565 1 67811356 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10489625 1 67814420 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3790566 1 67814440 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm67327 1 67816631 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_M373V,Missense_M373V,Missense_M373V,Missense_M373V,Silent,Missense_M373V,Silent exm67328 1 67816685 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_G391R,Missense_G391R,Missense_G391R,Missense_G391R,Silent,Missense_G391R,Silent exm67329 1 67816689 [A/T] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_N392I,Missense_N392I,Missense_N392I,Missense_N392I,Silent,Missense_N392I,Silent exm67331 1 67816701 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_A396V,Missense_A396V,Missense_A396V,Missense_A396V,Silent,Missense_A396V,Silent exm67336 1 67816772 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_G420R,Missense_G420R,Missense_G420R,Missense_G420R,Silent,Missense_G420R,Silent exm-rs3790567 1 67822377 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2252596 1 67833501 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm67342 1 67833527 [C/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_Q426H,Missense_Q426H,Missense_Q426H,Missense_Q426H,Silent,Missense_Q426H,Silent exm67345 1 67833643 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_G465D,Missense_G465D,Missense_G465D,Missense_G465D,Silent,Missense_G465D,Silent variant.4112 1 67833668 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Nonsense_W473X,Nonsense_W473X,Nonsense_W473X,Nonsense_W473X,Silent,Nonsense_W473X,Silent variant.4113 1 67833678 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Nonsense_R477X,Nonsense_R477X,Nonsense_R477X,Nonsense_R477X,Silent,Nonsense_R477X,Silent rs10493423 1 67837158 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm67349 1 67838152 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_R498H,Missense_R498H,Missense_R498H,Missense_R498H,Silent,Silent,Silent exm67350 1 67838216 [A/T] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_K519N,Missense_K519N,Missense_K519N,Missense_K519N,Silent,Silent,Silent exm67351 1 67838217 [T/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_A520S,Missense_A520S,Missense_A520S,Missense_A520S,Silent,Silent,Silent indel.4115 1 67845805 [I/D] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON rs881087 1 67846156 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm67363 1 67852280 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_A625V,Missense_A625V,Missense_A625V,Silent,Missense_A539V,Silent rs4297265 1 67852335 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Synonymous_T643T,Synonymous_T643T,Synonymous_T643T,Silent,Synonymous_T557T,Silent indel.4116 1 67852351 [D/I] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON rs11209063 1 67855142 [T/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2252749 1 67855772 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Synonymous_P669P,Silent,Silent,Silent,Synonymous_P583P,Silent exm67375 1 67861276 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Synonymous_H634H,Missense_T698M,Silent,Silent,Silent,Missense_T612M,Silent exm67378 1 67861350 [T/A] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_C723S,Silent,Silent,Silent,Missense_C637S,Silent exm67389 1 67861690 [C/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_S836C,Silent,Silent,Silent,Missense_S750C,Silent indel.4118 1 67890006 [I/D] NM_015640,NM_001018069,NM_001018067,NM_001018068 SERBP1,SERBP1,SERBP1,SERBP1 newrs139147758 1 67891818 [T/C] NM_015640,NM_001018069,NM_001018067,NM_001018068 SERBP1,SERBP1,SERBP1,SERBP1 EXON Missense_R155K,Missense_R155K,Missense_R155K,Missense_R155K rs11209072 1 67908644 [A/G] rs12116575 1 67912259 [T/C] rs1340589 1 67924391 [A/G] rs4633262 1 67926980 [T/C] rs4655715 1 67944943 [T/C] rs4655716 1 67945005 [A/G] rs6695089 1 67951218 [A/G] rs7554654 1 67953681 [A/G] rs7514743 1 67967813 [A/G] rs9285766 1 67968725 [A/C] rs7513191 1 67972184 [A/C] rs7538875 1 67980297 [A/C] rs11209099 1 67982128 [A/G] rs11209101 1 67989691 [A/C] rs7539855 1 67998133 [A/C] rs4233318 1 68001373 [T/G] rs4655561 1 68005643 [T/C] rs10493425 1 68010127 [A/C] rs12120145 1 68012254 [T/C] rs1340592 1 68021103 [A/G] rs7530157 1 68021906 [T/C] rs4655735 1 68027219 [A/G] rs12085093 1 68038313 [T/C] rs699235 1 68043745 [A/C] rs9919329 1 68046274 [T/C] rs787533 1 68046309 [T/C] rs699233 1 68046354 [T/C] rs787538 1 68050630 [T/C] rs11585171 1 68055347 [A/G] rs787507 1 68063786 [A/G] rs787508 1 68065339 [A/G] rs2418455 1 68069073 [T/C] rs787496 1 68083054 [A/G] rs12069919 1 68084290 [A/G] exm2264852 1 68084290 [A/G] rs787494 1 68085586 [T/C] rs787481 1 68095207 [T/C] rs12132307 1 68101543 [A/G] rs11209133 1 68106505 [T/C] rs12134425 1 68117203 [T/G] rs12748843 1 68128130 [A/C] rs344934 1 68137613 [T/C] rs488778 1 68147143 [T/C] rs624790 1 68147774 [T/G] rs685724 1 68154693 [T/C] rs7419 1 68167491 [T/C] NM_018841 GNG12 EXON Silent exm67467 1 68171216 [T/C] NM_018841 GNG12 EXON Missense_H46R exm67469 1 68171235 [T/C] NM_018841 GNG12 EXON Missense_M40V rs11809014 1 68196980 [T/G] NM_018841 GNG12 Silent rs12085997 1 68199090 [A/G] NM_018841 GNG12 Silent rs557986 1 68208946 [T/C] NM_018841 GNG12 Silent rs577305 1 68238855 [T/C] NM_018841 GNG12 Silent rs2802462 1 68247614 [A/G] NM_018841 GNG12 Silent rs1276303 1 68260778 [T/C] NM_018841 GNG12 Silent rs17130309 1 68278542 [T/C] NM_018841 GNG12 Silent rs2246675 1 68290946 [A/G] NM_018841 GNG12 Silent rs6588283 1 68299797 [T/C] NR_040077 GNG12-AS1 Silent rs6671298 1 68313038 [A/G] NR_040077 GNG12-AS1 Silent rs1938446 1 68335624 [A/G] NR_040077 GNG12-AS1 Silent rs7520899 1 68358177 [T/C] NR_040077 GNG12-AS1 Silent rs7552577 1 68366925 [A/C] NR_040077 GNG12-AS1 Silent rs11583096 1 68373757 [T/G] NR_040077 GNG12-AS1 Silent rs7520193 1 68393522 [A/C] NR_040077 GNG12-AS1 Silent rs6665420 1 68401005 [A/C] NR_040077 GNG12-AS1 Silent rs1938429 1 68406484 [A/G] NR_040077 GNG12-AS1 Silent rs1938426 1 68407584 [T/C] NR_040077 GNG12-AS1 Silent rs11209181 1 68416023 [T/C] NR_040077 GNG12-AS1 Silent exm2260604 1 68428049 [T/C] NR_040077 GNG12-AS1 Silent rs1926298 1 68441949 [A/G] NR_040077 GNG12-AS1 Silent rs1926284 1 68446291 [T/C] NR_040077 GNG12-AS1 Silent rs6662448 1 68447267 [A/G] NR_040077 GNG12-AS1 Silent rs12040310 1 68458532 [A/G] NR_040077 GNG12-AS1 Silent rs10889737 1 68468718 [T/C] NR_040077 GNG12-AS1 Silent rs2209620 1 68475955 [A/C] NR_040077 GNG12-AS1 Silent rs11209195 1 68480671 [T/C] NR_040077 GNG12-AS1 Silent rs7550608 1 68508995 [A/G] NR_040077 GNG12-AS1 Silent rs11801053 1 68512171 [T/C] NR_040077,NM_004675 GNG12-AS1,DIRAS3 EXON Silent,Silent exm67502 1 68512899 [A/C] NR_040077,NM_004675 GNG12-AS1,DIRAS3 EXON Silent,Missense_A28S rs198866 1 68551909 [T/G] NR_040077 GNG12-AS1 Silent indel.4122 1 68564374 [D/I] NR_040077,NM_001002292 GNG12-AS1,WLS EXON exm67512 1 68564392 [G/C] NR_040077,NM_001002292 GNG12-AS1,WLS EXON Silent,Missense_V519L indel.4123 1 68564393 [I/D] NR_040077,NM_001002292 GNG12-AS1,WLS EXON rs6671127 1 68571220 [A/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs11209216 1 68571431 [T/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs12134024 1 68581085 [T/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs2566761 1 68581861 [T/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs12046920 1 68586620 [T/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs10889748 1 68589935 [T/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs7062 1 68591253 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Silent,Silent,Silent rs7552304 1 68597121 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs6658452 1 68599427 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2772283 1 68599901 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2566784 1 68602735 [T/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm2264853 1 68603129 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm67526 1 68603512 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_M487I,Missense_M489I,Missense_M398I exm67529 1 68603586 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_V463I,Missense_V465I,Missense_V374I exm67530 1 68603612 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_T454M,Missense_T456M,Missense_T365M rs2052959 1 68609491 [T/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm1871452 1 68611566 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_R420W,Missense_R422W,Missense_R331W exm67537 1 68611617 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_R403W,Missense_R405W,Missense_R314W exm67540 1 68613819 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Synonymous_A376A,Synonymous_A378A,Synonymous_A287A exm2252792 1 68614320 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Synonymous_I330I,Synonymous_I332I,Synonymous_I241I exm67546 1 68614330 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_R327Q,Missense_R329Q,Missense_R238Q variant.4125 1 68619222 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Nonsense_R259X,Nonsense_R261X,Nonsense_R170X rs12733835 1 68622994 [A/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm67567 1 68624879 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_A142V,Missense_A144V,Missense_A53V exm2233768 1 68624921 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_A128V,Missense_A130V,Missense_A39V rs2820489 1 68628540 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2419343 1 68630667 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm-rs1430742 1 68635075 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm-rs2566755 1 68635390 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2772304 1 68636580 [A/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs4233320 1 68638451 [T/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs12085739 1 68645683 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs12407028 1 68647716 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2772300 1 68648026 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs891526 1 68651948 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2820500 1 68658961 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm67576 1 68659719 [C/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_H98D,Missense_H100D,Silent rs1036067 1 68660092 [T/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs10493436 1 68686391 [A/C] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent rs10493438 1 68687697 [T/C] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent rs10493439 1 68688069 [A/G] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent rs1430753 1 68692642 [A/G] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent exm67586 1 68697881 [C/G] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS EXON Missense_L34F,Missense_L34F,Missense_L34F indel.4126 1 68697903 [I/D] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS EXON rs17130627 1 68713347 [T/C] rs6686875 1 68719016 [T/C] rs4655580 1 68720412 [T/G] rs7554674 1 68728518 [T/C] rs12045284 1 68729652 [A/G] rs12065581 1 68732819 [A/G] rs885098 1 68733478 [A/G] rs2039153 1 68735899 [A/G] rs10889756 1 68739203 [T/C] rs7536982 1 68748015 [T/C] rs7546334 1 68750782 [A/G] rs3923451 1 68757334 [T/C] rs7541094 1 68764274 [T/G] rs12039098 1 68765106 [A/G] rs9436372 1 68773120 [A/G] rs4926354 1 68803646 [T/C] rs9436812 1 68821539 [T/C] rs4348764 1 68837810 [A/G] rs3118386 1 68839242 [T/C] rs1952124 1 68842068 [A/G] rs9436816 1 68847248 [T/C] rs7515572 1 68851568 [T/C] rs3125929 1 68865445 [A/G] rs11209295 1 68873255 [T/G] rs1925952 1 68875372 [A/G] rs10493443 1 68884722 [T/C] rs4264030 1 68893754 [A/G] rs2419988 1 68893832 [T/C] exm67606 1 68897002 [A/G] NM_000329 RPE65 EXON Missense_A434V var_1_68897011 1 68897011 [T/C] NM_000329 RPE65 EXON Missense_Y431C variant.4131 1 68897192 [T/C] NM_000329 RPE65 EXON Nonsense_W402X exm67614 1 68897202 [T/C] NM_000329 RPE65 EXON Missense_E399K exm1872588 1 68897243 [A/G] NM_000329 RPE65 EXON Missense_T385M variant.4132 1 68903896 [A/G] NM_000329 RPE65 EXON Missense_Y368H exm67620 1 68903928 [T/G] NM_000329 RPE65 EXON Missense_A357D rs3125902 1 68904266 [T/C] NM_000329 RPE65 Silent indel.4133 1 68904643 [D/I] NM_000329 RPE65 EXON exm67625 1 68904660 [A/C] NM_000329 RPE65 EXON Missense_N321K exm2233773 1 68904742 [T/G] NM_000329 RPE65 EXON Missense_K294T exm67628 1 68904887 [T/C] NM_000329 RPE65 EXON Missense_N282S variant.4136 1 68904986 [T/C] NM_000329 RPE65 EXON Missense_Y249C exm67632 1 68905294 [G/C] NM_000329 RPE65 EXON Missense_I225M variant.4137 1 68905299 [A/C] NM_000329 RPE65 EXON Nonsense_E224X rs17130694 1 68909113 [T/C] NM_000329 RPE65 Silent exm67645 1 68910315 [T/C] NM_000329 RPE65 EXON Missense_A132T variant.4139 1 68910454 [T/G] NM_000329 RPE65 Silent exm67647 1 68910514 [T/G] NM_000329 RPE65 EXON Missense_I100L newrs61752873 1 68910540 [T/C] NM_000329 RPE65 EXON Missense_R91Q variant.4142 1 68912508 [A/G] NM_000329 RPE65 EXON Nonsense_R44X exm2252809 1 68912755 [T/C] NM_000329 RPE65 Silent newrs61751276 1 68915573 [T/C] NM_000329 RPE65 Silent rs435066 1 68927513 [T/C] rs1925961 1 68930300 [T/G] rs1924544 1 68933744 [A/G] rs7527841 1 68936124 [T/G] variant.4148 1 68942738 [A/C] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Nonsense_Y487X,Nonsense_Y771X exm67682 1 68944843 [T/C] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Missense_Y415C,Missense_Y699C exm67689 1 68947133 [A/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Missense_T358M,Missense_T642M indel.4150 1 68947877 [I/D] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON exm67712 1 68948280 [A/C] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Silent,Missense_I404R exm67719 1 68948567 [T/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Silent,Nonsense_Y308X exm67720 1 68949665 [A/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Missense_F293S,Missense_F293S exm1872980 1 68954662 [A/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Missense_I176T,Missense_I176T variant.4153 1 68955130 [T/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 Silent,Silent exm67745 1 68962660 [A/G] NM_017779,NM_001114120,NR_110671 DEPDC1,DEPDC1,DEPDC1-AS1 EXON Missense_P8L,Missense_P8L,Silent rs6694935 1 68963397 [T/C] NR_110671 DEPDC1-AS1 Silent rs7554119 1 68965439 [T/G] NR_110671 DEPDC1-AS1 Silent exm-rs7554119 1 68965439 [T/G] NR_110671 DEPDC1-AS1 Silent rs6588326 1 68984066 [T/C] NR_110671 DEPDC1-AS1 Silent rs2147317 1 68990012 [T/C] NR_110671 DEPDC1-AS1 Silent rs17473413 1 68993460 [A/G] NR_110671 DEPDC1-AS1 Silent rs912499 1 69003582 [T/C] NR_110671 DEPDC1-AS1 EXON Silent rs12756859 1 69009194 [T/C] rs3892217 1 69034457 [T/C] rs12406361 1 69045273 [A/G] rs2064375 1 69053937 [T/C] rs7554651 1 69070077 [A/G] rs2507209 1 69070945 [T/C] rs11209332 1 69088662 [A/G] rs11209333 1 69099017 [T/C] rs1738013 1 69133160 [T/C] rs854285 1 69158190 [T/G] rs860534 1 69162800 [A/G] rs1018418 1 69174297 [A/C] rs7541833 1 69184038 [A/G] rs854286 1 69184214 [A/G] rs6692084 1 69239442 [A/C] rs854273 1 69243474 [A/C] rs12082973 1 69254610 [A/G] rs12760956 1 69263276 [T/C] kgp3280388 1 69265453 [T/C] rs6674177 1 69334834 [A/G] rs11209362 1 69347850 [A/C] rs9436417 1 69354742 [T/C] rs11799791 1 69403628 [T/C] rs13375505 1 69419136 [T/C] exm2260614 1 69441920 [A/C] rs7524839 1 69482704 [T/G] rs6701090 1 69500815 [A/G] rs6691636 1 69515706 [A/G] rs1507860 1 69520596 [A/G] rs2842053 1 69551411 [A/C] NR_146608 LINC01707 Silent rs2456910 1 69554417 [A/G] NR_146608 LINC01707 Silent rs6671705 1 69569143 [T/C] NR_146608 LINC01707 Silent rs2089502 1 69579838 [T/C] NR_146608 LINC01707 Silent rs955093 1 69588193 [T/C] NR_146608 LINC01707 Silent rs4650112 1 69597419 [T/G] NR_146608 LINC01707 Silent rs1577611 1 69619701 [T/G] NR_146608 LINC01707 Silent rs2784828 1 69627731 [A/G] NR_146608 LINC01707 Silent rs11810068 1 69632907 [A/C] NR_146608 LINC01707 Silent rs2250760 1 69648655 [T/G] NR_146608 LINC01707 Silent rs10493454 1 69659840 [A/G] rs1796938 1 69662082 [T/C] rs11209403 1 69680062 [T/C] rs12086324 1 69681190 [T/C] rs11209405 1 69684599 [A/G] exm-rs4650135 1 69684997 [T/C] rs4650137 1 69685100 [T/C] rs2246312 1 69711165 [T/C] rs2420826 1 69713109 [A/G] rs12123555 1 69743750 [T/C] rs1824448 1 69746933 [T/C] rs720233 1 69779437 [T/G] rs2815466 1 69789580 [T/C] rs12404688 1 69815440 [A/G] rs2765864 1 69830063 [A/G] rs548825 1 69851618 [T/C] rs7513164 1 69865203 [A/G] exm2252829 1 69874609 [T/C] rs1578356 1 69877882 [A/G] rs10518315 1 69879802 [T/G] rs868402 1 69885329 [T/G] rs11209454 1 69889691 [A/G] rs11209455 1 69891657 [A/G] rs1926264 1 69900116 [T/G] NR_147164 LINC01758 Silent rs4650001 1 69904826 [A/C] rs9326089 1 69909410 [A/C] rs12042471 1 69909474 [T/C] rs1926268 1 69920333 [A/G] rs11209464 1 69920839 [T/C] rs11209468 1 69935119 [T/C] rs1120087 1 69943001 [T/C] rs12028493 1 69944198 [T/C] rs1341771 1 69951220 [A/G] rs11209479 1 69965403 [T/G] rs4259589 1 69972693 [A/G] rs6424550 1 69983647 [T/C] rs4589058 1 69993512 [A/G] rs10889836 1 70010325 [T/C] rs4650295 1 70029922 [T/C] rs1245060 1 70047731 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs4650296 1 70063259 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs1749504 1 70074131 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs11809230 1 70084797 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs6662257 1 70097256 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs2066296 1 70097708 [T/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs7515290 1 70116825 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs1024268 1 70117404 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs227114 1 70124742 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs227115 1 70124891 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs12118129 1 70143124 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs1417437 1 70154441 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs17131017 1 70155099 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs1740900 1 70164686 [A/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs1740909 1 70176245 [T/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs1340773 1 70186036 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs10889850 1 70207079 [T/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs11209536 1 70221562 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs6424593 1 70223922 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs7523521 1 70225340 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs7520521 1 70248115 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs6681847 1 70263007 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs12028771 1 70272063 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs1913268 1 70279860 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs11209552 1 70297993 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent exm2264854 1 70297993 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent exm67768 1 70300517 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_R178C,Synonymous_D186D,Synonymous_D147D exm2252830 1 70300517 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_R178C,Synonymous_D186D,Synonymous_D147D exm67771 1 70303924 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Synonymous_A194A,Missense_R203Q,Missense_R164Q rs2226284 1 70335682 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs4623650 1 70343674 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent exm-rs12037173 1 70355981 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs6663915 1 70363601 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs6424609 1 70363647 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent kgp5735427 1 70382196 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent kgp8961276 1 70385871 [T/G] NM_001330635,NM_001350216,NM_020794,NR_023916 LRRC7,LRRC7,LRRC7,PIN1P1 EXON Silent,Silent,Silent,Silent rs12040177 1 70440562 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs12048343 1 70450024 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent exm67792 1 70488932 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_R549H,Missense_V558I,Missense_V519I rs17097511 1 70501140 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent exm67802 1 70501827 [T/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_X666G,Missense_N674K,Missense_N635K exm67817 1 70503989 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_Q820R,Missense_N829D,Missense_N790D exm67850 1 70504688 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_Y1053C,Missense_M1062V,Missense_M1023V exm67852 1 70504781 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_T1084I,Missense_H1093Y,Missense_H1054Y exm67866 1 70504985 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_R1152H,Missense_A1161T,Missense_A1122T exm67870 1 70505051 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_R1174Q,Missense_G1183S,Missense_G1144S exm67871 1 70505057 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_T1176I,Missense_P1185S,Missense_P1146S exm1874165 1 70505082 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Synonymous_S1184S,Missense_R1193H,Missense_R1154H exm67875 1 70505151 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Synonymous_P1207P,Missense_P1216L,Missense_P1177L exm67876 1 70505178 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Synonymous_G1216G,Missense_A1225V,Missense_A1186V rs616511 1 70541127 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs10493471 1 70543349 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs12033206 1 70558599 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs826900 1 70565386 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs17131215 1 70580058 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs641909 1 70587360 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent exm2273327 1 70587581 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Silent,Silent,Silent rs6424382 1 70596535 [T/C] exm67909 1 70611496 [A/C] NM_017768 LRRC40 EXON Missense_R599L exm67911 1 70611540 [T/C] NM_017768 LRRC40 EXON Missense_I584M variant.4160 1 70616809 [A/C] NM_017768 LRRC40 Silent exm67922 1 70616817 [A/G] NM_017768 LRRC40 EXON Missense_F504S exm67923 1 70616830 [T/C] NM_017768 LRRC40 EXON Missense_I500V variant.4162 1 70618227 [T/C] NM_017768 LRRC40 Silent rs587567 1 70620329 [T/G] NM_017768 LRRC40 Silent exm67930 1 70621412 [T/C] NM_017768 LRRC40 EXON Missense_I430V exm67936 1 70625071 [A/G] NM_017768 LRRC40 EXON Missense_P388S exm67940 1 70639162 [T/C] NM_017768 LRRC40 EXON Missense_R366Q exm1874191 1 70639324 [A/G] NM_017768 LRRC40 EXON Missense_I349T exm67946 1 70639372 [T/C] NM_017768 LRRC40 EXON Missense_N333S exm67949 1 70641535 [T/C] NM_017768 LRRC40 EXON Missense_R312Q indel.4163 1 70641611 [I/D] NM_017768 LRRC40 EXON exm67960 1 70644596 [A/G] NM_017768 LRRC40 EXON Missense_L248F exm67963 1 70644637 [A/G] NM_017768 LRRC40 EXON Missense_T234I rs6664480 1 70646431 [A/C] NM_017768 LRRC40 Silent exm67967 1 70646822 [T/C] NM_017768 LRRC40 EXON Missense_N203S exm67969 1 70650481 [T/C] NM_017768 LRRC40 EXON Missense_N175S variant.4164 1 70654775 [A/G] NM_017768 LRRC40 EXON Synonymous_D111D exm67980 1 70654870 [T/C] NM_017768 LRRC40 EXON Missense_E80K exm67982 1 70654895 [T/C] NM_017768 LRRC40 EXON Synonymous_S71S exm2252832 1 70654895 [T/C] NM_017768 LRRC40 EXON Synonymous_S71S exm67985 1 70654950 [T/G] NM_017768 LRRC40 EXON Missense_Q53P exm67986 1 70654953 [A/G] NM_017768 LRRC40 EXON Missense_P52L exm67989 1 70671121 [A/C] NM_017768 LRRC40 EXON Missense_A35S exm67993 1 70671201 [A/G] NM_017768 LRRC40 EXON Missense_A8V rs11581894 1 70682550 [A/G] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 Silent,Silent,Silent,Silent,Silent,Silent variant.4168 1 70687294 [A/G] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.4169 1 70697933 [I/D] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 exm68039 1 70715711 [T/C] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 EXON Missense_R374C,Missense_R374C,Missense_R367C,Missense_R367C,Missense_R367C,Missense_R367C,Missense_R177C,Missense_R177C,Missense_R177C,Missense_R177C,Silent,Missense_R177C,Missense_R184C,Missense_R184C,Missense_R367C rs10489928 1 70715884 [T/C] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm68050 1 70716373 [C/G] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 EXON Missense_T453R,Missense_T454R,Missense_T446R,Missense_T447R,Missense_T447R,Missense_T446R,Missense_T256R,Missense_T257R,Missense_T256R,Missense_T257R,Silent,Missense_T256R,Missense_T263R,Missense_T264R,Missense_T447R rs11591061 1 70716955 [T/G] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm68061 1 70742505 [A/G] NM_030816 ANKRD13C EXON Missense_T413I rs12565719 1 70744507 [A/C] NM_030816 ANKRD13C Silent exm2265017 1 70750558 [A/G] NM_030816 ANKRD13C Silent newrs150473953 1 70761813 [T/C] NM_030816 ANKRD13C EXON Synonymous_T351T rs6686181 1 70762970 [A/G] NM_030816 ANKRD13C Silent exm68078 1 70781186 [T/C] NM_030816 ANKRD13C EXON Missense_R214Q rs6424385 1 70808932 [T/C] NM_030816 ANKRD13C Silent rs10889868 1 70816563 [A/G] NM_030816 ANKRD13C Silent exm68088 1 70819679 [A/C] NM_030816 ANKRD13C EXON Missense_G138V exm68096 1 70819802 [T/C] NM_030816 ANKRD13C EXON Missense_G97D indel.4171 1 70820700 [D/I] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 EXON exm68115 1 70820789 [T/C] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 EXON Missense_A52V,Silent,Missense_A52V,Missense_A52V variant.4172 1 70820790 [T/C] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 EXON Synonymous_A52A,Silent,Synonymous_A52A,Synonymous_A52A variant.4173 1 70820791 [A/G] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 EXON Missense_V53I,Silent,Missense_V53I,Silent exm68116 1 70820794 [T/C] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 EXON Missense_C54R,Silent,Missense_C54R,Silent variant.4174 1 70820799 [T/G] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 EXON Synonymous_T55T,Silent,Silent,Silent rs4620474 1 70828536 [T/C] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 Silent,Silent,Silent,Silent exm68121 1 70832137 [T/C] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 EXON Missense_R90W,Silent,Synonymous_N57N,Missense_T56M exm68122 1 70832144 [C/G] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 EXON Missense_G92A,Silent,Missense_G60R,Missense_R58S newrs143899788 1 70833400 [T/C] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 EXON Silent,Silent,Nonsense_Q119X,Silent rs7523188 1 70858435 [A/G] rs664051 1 70869116 [A/G] rs648743 1 70875779 [T/C] exm68129 1 70877113 [A/C] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_D5E,Missense_D5E,Missense_D5E rs12030275 1 70877743 [T/C] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent rs487773 1 70877779 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent exm68136 1 70881670 [T/C] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_T67I,Missense_T67I,Missense_T67I rs1145920 1 70883840 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent rs672203 1 70887099 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent exm68141 1 70890007 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_V166M,Missense_V134M,Silent exm68142 1 70890023 [C/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_G171A,Missense_G139A,Silent exm68147 1 70895478 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_R197H,Missense_R165H,Missense_R153H exm68152 1 70896038 [T/C] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_C229R,Missense_C197R,Missense_C185R rs17131305 1 70896165 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent rs663649 1 70897183 [T/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent indel.4179 1 70897823 [D/I] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON exm1874282 1 70899534 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_E301K,Missense_E269K,Missense_E257K variant.4180 1 70899637 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent indel.4182 1 70904382 [D/I] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON exm1874287 1 70904474 [A/C] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_L386I,Missense_L354I,Missense_L342I exm68172 1 70904800 [T/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_S403I,Missense_S371I,Missense_S359I rs6693082 1 70905674 [T/G] rs12562375 1 70920737 [T/C] exm-rs10458561 1 70921173 [A/G] rs6424388 1 70930788 [A/G] exm2252833 1 70930788 [A/G] rs8179319 1 70934259 [A/G] rs17131315 1 70944520 [T/C] rs527148 1 70948010 [A/G] rs10493474 1 70948788 [A/G] rs2807912 1 70952314 [A/G] rs2807911 1 70954299 [A/G] rs682717 1 70974117 [A/G] rs625578 1 70983975 [A/G] rs10889879 1 70986547 [A/G] rs505292 1 70997152 [T/C] rs2651236 1 71001920 [T/G] rs9424945 1 71007926 [A/G] rs582435 1 71010207 [T/C] rs4515743 1 71014024 [T/G] rs4233083 1 71018986 [T/C] rs12410281 1 71019658 [T/C] rs4146541 1 71022862 [T/C] rs10889881 1 71023684 [T/C] rs3121983 1 71028815 [A/G] rs7522196 1 71045066 [A/G] rs11209645 1 71046778 [T/C] rs6689757 1 71067296 [A/G] rs1007630 1 71085728 [T/C] rs8179355 1 71093805 [A/C] rs12087314 1 71095174 [T/C] rs2421794 1 71098437 [T/C] rs2152119 1 71100213 [A/G] rs1932048 1 71100726 [A/G] rs6686879 1 71103392 [T/C] rs7554725 1 71104110 [A/G] rs10889884 1 71120020 [T/C] rs2782763 1 71142202 [T/C] rs11209673 1 71144279 [A/G] rs2820526 1 71153714 [A/C] rs2820550 1 71162976 [A/G] rs2152126 1 71170183 [T/G] rs2782792 1 71180389 [T/G] NR_125938 LINC01788 Silent rs12080162 1 71194759 [A/C] NR_125938 LINC01788 Silent rs2421787 1 71195538 [A/G] NR_125938 LINC01788 Silent rs1932063 1 71197126 [A/G] NR_125938 LINC01788 Silent rs7523542 1 71198580 [A/C] NR_125938 LINC01788 Silent rs2184471 1 71200411 [A/G] NR_125938 LINC01788 Silent rs12563671 1 71210705 [T/G] NR_125938 LINC01788 Silent rs1591385 1 71215084 [A/G] NR_125938 LINC01788 Silent rs12033260 1 71220683 [T/G] NR_125938 LINC01788 Silent rs11209689 1 71229637 [T/G] NR_125938 LINC01788 Silent rs998550 1 71230547 [A/G] NR_125938 LINC01788 Silent rs10889889 1 71250352 [A/C] NR_125938 LINC01788 Silent rs2257772 1 71275174 [A/G] rs11209700 1 71288661 [T/C] rs7534636 1 71301892 [T/C] rs11810467 1 71305078 [T/C] indel.4183 1 71318528 [D/I] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON rs1327460 1 71325044 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs7530738 1 71327463 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs5703 1 71328083 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs12119442 1 71331220 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs4649932 1 71348176 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs11209707 1 71351785 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs17131479 1 71357687 [C/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs4998697 1 71358190 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent exm2252854 1 71365018 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs10889896 1 71368281 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs875727 1 71373738 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs17482751 1 71375772 [A/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs602383 1 71391646 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs625617 1 71399414 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs622721 1 71413324 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent indel.4185 1 71418632 [D/I] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON exm68191 1 71418672 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R392H,Silent exm68197 1 71418711 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q379R,Silent exm68200 1 71418742 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_L369L,Silent rs661000 1 71421564 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs977214 1 71426260 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17090700 1 71439528 [A/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm68212 1 71440025 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Missense_P375L,Silent,Silent,Missense_P375L,Missense_P375L exm68214 1 71440052 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Missense_N366S,Silent,Silent,Missense_N366S,Missense_N366S rs2072947 1 71440217 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs726764 1 71443399 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs879424 1 71443992 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2206343 1 71449130 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2300164 1 71454352 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs5682 1 71476872 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2233789 1 71478109 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Missense_T319M,Missense_T319M,Silent,Missense_T319M,Silent,Missense_T319M,Missense_T319M,Missense_T319M,Missense_T319M rs8179390 1 71494365 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2300179 1 71499286 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2817864 1 71503105 [T/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2817867 1 71512160 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm68246 1 71513137 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715,NR_038420 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,ZRANB2-AS1 EXON Silent,Missense_G42R,Missense_G42R,Silent,Missense_G42R,Silent,Missense_G42R,Missense_G42R,Missense_G42R,Missense_G42R,Silent exm68248 1 71513160 [C/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715,NR_038420 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,ZRANB2-AS1 EXON Silent,Missense_R34P,Missense_R34P,Silent,Missense_R34P,Silent,Missense_R34P,Missense_R34P,Missense_R34P,Missense_R34P,Silent exm68250 1 71513163 [T/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715,NR_038420 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,ZRANB2-AS1 EXON Silent,Missense_A33E,Missense_A33E,Silent,Missense_A33E,Silent,Missense_A33E,Missense_A33E,Missense_A33E,Missense_A33E,Silent exm68256 1 71530780 [A/G] NR_038420,NM_005455,NM_203350 ZRANB2-AS1,ZRANB2,ZRANB2 EXON Silent,Silent,Missense_R324C exm68273 1 71534974 [T/C] NM_005455,NM_203350 ZRANB2,ZRANB2 EXON Missense_R252H,Missense_R252H exm68276 1 71534986 [T/C] NM_005455,NM_203350 ZRANB2,ZRANB2 EXON Missense_R248H,Missense_R248H exm1875922 1 71536564 [T/C] NM_005455,NM_203350 ZRANB2,ZRANB2 EXON Missense_H210R,Missense_H210R rs9425055 1 71541003 [T/C] NM_005455,NM_203350 ZRANB2,ZRANB2 Silent,Silent var_1_71544139 1 71544139 [A/C] NM_005455,NM_203350 ZRANB2,ZRANB2 Silent,Silent rs12035210 1 71545970 [A/G] NM_005455,NM_203350 ZRANB2,ZRANB2 Silent,Silent rs7531139 1 71556167 [A/G] NR_046217 ZRANB2-AS2 Silent rs12409826 1 71560350 [A/G] NR_046217 ZRANB2-AS2 Silent rs4272572 1 71561084 [A/G] NR_046217 ZRANB2-AS2 Silent rs1418449 1 71632687 [T/G] NR_046217 ZRANB2-AS2 Silent rs10493482 1 71633795 [T/C] NR_046217 ZRANB2-AS2 Silent rs3934401 1 71640908 [A/G] NR_046217 ZRANB2-AS2 Silent rs2796188 1 71694861 [A/G] NR_046217 ZRANB2-AS2 Silent rs1891417 1 71695806 [A/G] NR_046217 ZRANB2-AS2 Silent rs10493483 1 71696940 [A/G] NR_046217 ZRANB2-AS2 Silent rs12031954 1 71733081 [T/G] rs6673749 1 71734612 [T/C] rs962231 1 71740028 [A/G] rs12749022 1 71750361 [A/G] exm-rs6695355 1 71762203 [A/G] rs6695355 1 71762203 [A/G] rs17091107 1 71777548 [T/G] rs1506452 1 71781585 [A/G] rs2174602 1 71799403 [A/G] rs11209773 1 71823940 [A/G] rs1517754 1 71840498 [T/C] rs12127469 1 71849037 [A/C] exm2263860 1 71849037 [A/C] exm68307 1 71873154 [T/G] NM_173808 NEGR1 EXON Missense_Y347S var_1_71873303 1 71873303 [A/G] NM_173808 NEGR1 Silent rs7550923 1 71920314 [A/G] NM_173808 NEGR1 Silent rs977145 1 71929289 [T/C] NM_173808 NEGR1 Silent rs357221 1 71960291 [A/G] NM_173808 NEGR1 Silent rs17503430 1 71993292 [T/C] NM_173808 NEGR1 Silent rs357237 1 71996090 [A/C] NM_173808 NEGR1 Silent rs7518830 1 72005110 [A/G] NM_173808 NEGR1 Silent rs357233 1 72012933 [A/G] NM_173808 NEGR1 Silent rs357210 1 72025716 [T/C] NM_173808 NEGR1 Silent rs1335223 1 72038497 [T/C] NM_173808 NEGR1 Silent rs1334005 1 72058405 [T/C] NM_173808 NEGR1 Silent exm68319 1 72058610 [T/C] NM_173808 NEGR1 EXON Missense_S277N exm-rs10493485 1 72071129 [A/T] NM_173808 NEGR1 Silent rs605349 1 72072295 [A/G] NM_173808 NEGR1 Silent rs1762732 1 72080604 [T/C] NM_173808 NEGR1 Silent rs6696052 1 72090075 [A/G] NM_173808 NEGR1 Silent exm2268705 1 72098811 [T/C] NM_173808 NEGR1 Silent rs954299 1 72121585 [A/C] NM_173808 NEGR1 Silent rs10889924 1 72136346 [A/C] NM_173808 NEGR1 Silent variant.4188 1 72163755 [A/C] NM_173808 NEGR1 EXON Nonsense_Y201X rs4147264 1 72206799 [T/C] NM_173808 NEGR1 Silent rs17091704 1 72208917 [T/C] NM_173808 NEGR1 Silent rs10789324 1 72217553 [T/G] NM_173808 NEGR1 Silent rs1599179 1 72234070 [A/G] NM_173808 NEGR1 Silent rs12024388 1 72253577 [T/C] NM_173808 NEGR1 Silent rs531071 1 72271264 [A/G] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent exm-rs12141391 1 72274473 [A/C] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs546741 1 72289671 [A/G] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs6683448 1 72299344 [T/C] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs591540 1 72331815 [T/G] NM_173808 NEGR1 Silent rs648556 1 72352237 [A/G] NM_173808 NEGR1 Silent rs1765607 1 72370307 [T/C] NM_173808 NEGR1 Silent rs7527501 1 72391457 [T/C] NM_173808 NEGR1 Silent variant.4189 1 72400757 [A/C] NM_173808 NEGR1 Silent rs2768395 1 72402030 [T/C] NM_173808 NEGR1 Silent rs2256913 1 72402880 [A/G] NM_173808 NEGR1 Silent exm2268706 1 72410812 [T/C] NM_173808 NEGR1 Silent rs7513441 1 72424117 [A/G] NM_173808 NEGR1 Silent rs12024769 1 72428834 [T/C] NM_173808 NEGR1 Silent rs10518394 1 72442018 [T/C] NM_173808 NEGR1 Silent rs6661979 1 72458685 [T/C] NM_173808 NEGR1 Silent rs2029155 1 72458866 [T/C] NM_173808 NEGR1 Silent rs1954600 1 72469148 [T/C] NM_173808 NEGR1 Silent rs12565657 1 72478099 [T/G] NM_173808 NEGR1 Silent rs3102906 1 72488815 [A/G] NM_173808 NEGR1 Silent rs12023418 1 72492583 [A/G] NM_173808 NEGR1 Silent rs3102918 1 72499082 [T/C] NM_173808 NEGR1 Silent rs3128557 1 72499912 [A/C] NM_173808 NEGR1 Silent rs1026997 1 72516287 [T/C] NM_173808 NEGR1 Silent rs1486084 1 72520941 [T/C] NM_173808 NEGR1 Silent rs2821267 1 72531925 [A/G] NM_173808 NEGR1 Silent rs988421 1 72549836 [T/C] NM_173808 NEGR1 Silent rs1486091 1 72571364 [T/C] NM_173808 NEGR1 Silent rs2821248 1 72575560 [A/G] NM_173808 NEGR1 Silent rs2821236 1 72595125 [T/C] NM_173808 NEGR1 Silent rs12755450 1 72628347 [T/C] NM_173808 NEGR1 Silent rs2821296 1 72629795 [T/C] NM_173808 NEGR1 Silent rs2298152 1 72654730 [A/G] NM_173808 NEGR1 Silent rs1342874 1 72664938 [T/C] NM_173808 NEGR1 Silent rs1194269 1 72703860 [A/G] NM_173808 NEGR1 Silent rs9988578 1 72723479 [T/C] NM_173808 NEGR1 Silent rs2000228 1 72723863 [T/C] NM_173808 NEGR1 Silent rs11209939 1 72724012 [T/G] NM_173808 NEGR1 Silent rs3101340 1 72744144 [A/G] NM_173808 NEGR1 Silent exm68339 1 72748084 [C/G] NM_173808 NEGR1 EXON Missense_L32V exm68344 1 72748125 [G/C] NM_173808 NEGR1 EXON Missense_A18G rs3101338 1 72750353 [A/C] exm-rs2568958 1 72765116 [A/G] rs2815752 1 72812440 [A/G] exm-rs2815752 1 72812440 [A/G] rs2012697 1 72819612 [T/C] rs990871 1 72823713 [T/C] rs10889947 1 72828221 [T/C] rs2613507 1 72834503 [A/G] rs1993709 1 72838529 [A/G] rs12123766 1 72861847 [A/G] rs7535539 1 72913499 [A/C] rs782207 1 72953251 [A/G] exm2263825 1 72954611 [A/C] rs17092827 1 72967644 [A/G] rs782228 1 72975877 [T/C] rs782230 1 72987960 [A/G] rs1775367 1 72991433 [T/C] rs1775370 1 72992856 [T/C] rs1445583 1 73012228 [A/C] rs2255606 1 73034036 [T/C] rs2244695 1 73035775 [A/G] rs4498754 1 73075423 [A/C] exm2263861 1 73090344 [A/C] rs17093152 1 73096321 [A/G] rs11209988 1 73100055 [A/G] rs12128913 1 73102469 [A/C] rs4111519 1 73107472 [A/G] rs12030081 1 73111887 [A/C] kgp15754827 1 73114150 [A/C] rs12072171 1 73197081 [T/C] rs2422280 1 73203025 [T/C] rs11210049 1 73221921 [T/C] rs11210055 1 73230347 [T/C] rs2841188 1 73231948 [A/G] rs580050 1 73266393 [A/G] exm2264856 1 73281986 [A/G] rs11210072 1 73286806 [T/C] rs2841193 1 73311597 [T/C] rs1405062 1 73317559 [A/G] rs2692869 1 73327954 [T/C] rs2692843 1 73361805 [T/G] rs6668452 1 73386470 [A/C] rs6660036 1 73390986 [A/G] rs4434807 1 73401801 [T/C] rs7536364 1 73408437 [A/G] rs6424507 1 73408983 [T/C] kgp11812239 1 73412289 [T/G] kgp2501539 1 73426137 [T/G] rs10889998 1 73484880 [A/G] rs12119161 1 73489496 [A/G] rs12734738 1 73492303 [T/G] rs11210105 1 73497953 [T/C] kgp6521843 1 73501066 [T/G] rs7512691 1 73552927 [T/C] rs10749813 1 73557945 [A/G] rs11210123 1 73559787 [T/C] kgp9172377 1 73560595 [A/C] rs6424522 1 73614563 [T/C] rs7523688 1 73625777 [A/G] exm2268901 1 73639751 [T/C] rs11210178 1 73658061 [T/C] rs10890018 1 73662169 [A/G] rs6692884 1 73669845 [A/G] rs4384176 1 73670808 [A/G] kgp8152830 1 73676969 [T/C] rs4498757 1 73742019 [T/C] rs6684341 1 73744843 [T/C] rs11210201 1 73766431 [T/G] rs1885246 1 73793499 [T/C] NR_110676 LINC01360 Silent kgp15474236 1 73798483 [T/C] NR_110676 LINC01360 Silent kgp8604590 1 73799968 [T/G] NR_110676 LINC01360 Silent exm2264857 1 73882478 [A/G] rs1475064 1 73882478 [A/G] rs1475065 1 73882880 [A/G] rs4113050 1 73910055 [T/C] rs501899 1 73920352 [T/C] rs561076 1 73927488 [A/G] rs12140865 1 73932886 [A/C] rs11210259 1 73935251 [A/G] rs1501483 1 73945480 [T/C] rs9425120 1 73951515 [T/C] rs4384177 1 73982084 [T/G] rs1501488 1 73996208 [T/C] rs2062664 1 74017178 [T/C] rs6669337 1 74022034 [A/C] rs12133927 1 74043705 [T/C] rs4649988 1 74048649 [T/C] rs7546041 1 74055240 [A/G] rs2341263 1 74083035 [T/C] rs1576429 1 74092495 [A/G] rs6680131 1 74106106 [A/G] rs9425123 1 74129905 [A/G] rs4617355 1 74138765 [A/G] rs11210325 1 74139105 [T/C] rs9425014 1 74145078 [A/G] NR_146300 LINC02238 Silent rs2880289 1 74151316 [A/G] NR_146300 LINC02238 Silent rs4291455 1 74166048 [T/C] NR_146300 LINC02238 Silent rs12145301 1 74170796 [A/G] NR_146300 LINC02238 Silent rs1497840 1 74174778 [A/G] NR_146300 LINC02238 Silent rs7515492 1 74183738 [T/C] NR_146300 LINC02238 Silent rs10789377 1 74200925 [A/G] NR_146300 LINC02238 Silent rs12058491 1 74202064 [T/C] NR_146300 LINC02238 EXON Silent rs11210335 1 74204559 [A/C] rs17094286 1 74208960 [T/C] rs11210343 1 74220796 [A/G] rs6680989 1 74228366 [A/G] rs1874731 1 74249035 [T/C] rs4147207 1 74251125 [T/C] rs1353671 1 74260853 [T/C] rs1340429 1 74264228 [A/G] rs10493524 1 74274122 [A/C] rs10890079 1 74286408 [T/C] rs1948615 1 74298228 [T/C] rs2016423 1 74298254 [T/G] rs12401808 1 74299658 [T/C] rs1454610 1 74321238 [A/G] rs12036352 1 74323287 [T/C] rs12046593 1 74323399 [A/C] rs6672527 1 74338530 [T/C] exm-rs11210359 1 74339167 [A/G] rs2014651 1 74345867 [A/G] rs11210364 1 74350248 [A/G] rs1619291 1 74381089 [T/C] rs1340425 1 74385848 [T/C] rs2733262 1 74396896 [T/C] rs10890101 1 74445584 [T/C] rs9662322 1 74452323 [T/G] rs11210389 1 74454701 [A/C] rs17588031 1 74465302 [A/G] exm68367 1 74492543 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Missense_V610A exm68374 1 74506926 [A/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Missense_K563N exm68376 1 74506942 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Missense_A558V variant.4191 1 74506991 [A/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Nonsense_E542X exm68384 1 74507042 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Missense_R525C exm68385 1 74507159 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Missense_V486I indel.4192 1 74507218 [D/I] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON exm68387 1 74507233 [A/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Missense_L461W exm68388 1 74507249 [A/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Missense_A456S variant.4193 1 74507267 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Nonsense_R450X exm68391 1 74507315 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Missense_E434K exm68393 1 74507410 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_R402Q,Missense_R402Q exm68394 1 74507423 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_I398V,Missense_I398V exm68395 1 74507450 [C/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_H389D,Missense_H389D rs6424572 1 74513945 [T/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs1072935 1 74522280 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent exm68401 1 74540389 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_D318G,Missense_D318G exm68403 1 74540465 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_Y293H,Missense_Y293H rs17094802 1 74540820 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs11210405 1 74547515 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs10789387 1 74560411 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs11210407 1 74560603 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs4650246 1 74561386 [A/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent exm68405 1 74575139 [A/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_L269R,Missense_L269R exm68408 1 74575157 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_G263E,Missense_G263E rs1601153 1 74592761 [T/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent exm68413 1 74621445 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_R227C,Missense_R227C rs1333032 1 74644454 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent exm68422 1 74648257 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Nonsense_R180X,Nonsense_R180X indel.4200 1 74648324 [I/D] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON exm68425 1 74648325 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_H157R,Missense_H157R exm68427 1 74648329 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_H156Y,Missense_H156Y variant.4201 1 74648348 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Nonsense_W149X,Nonsense_W149X exm68430 1 74648403 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_D131G,Missense_D131G exm68431 1 74648408 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_M129I,Missense_M129I exm68433 1 74648460 [A/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Nonsense_L112X,Nonsense_L112X exm68439 1 74649119 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent exm68443 1 74649209 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_V54I,Missense_V54I exm68448 1 74649321 [C/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_W16C,Missense_W16C rs11806946 1 74663709 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Silent exm68453 1 74663985 [A/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Missense_P21Q,Missense_P21Q,Missense_P21Q,Missense_P21Q,Missense_P21Q exm68454 1 74664011 [G/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Missense_Q30E,Missense_Q30E,Missense_Q30E,Missense_Q30E,Missense_Q30E exm68458 1 74665396 [T/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Missense_A57V,Missense_A57V,Missense_A57V,Missense_A57V,Missense_A57V rs792310 1 74665493 [A/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Synonymous_V89V,Synonymous_V89V,Synonymous_V89V,Synonymous_V89V,Synonymous_V89V exm68464 1 74665516 [G/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT Silent,Silent,Silent,Silent,Silent variant.4210 1 74665520 [A/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT Silent,Silent,Silent,Silent,Silent exm68471 1 74670081 [A/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Missense_Y130C,Silent,Silent,Missense_Y130C exm68472 1 74670089 [T/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Nonsense_R133X,Silent,Silent,Nonsense_R133X exm68476 1 74670251 [A/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Silent,Silent,Silent,Missense_S187G exm68484 1 74670359 [T/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Silent,Silent,Silent,Missense_P223S exm68486 1 74670369 [T/A] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Silent,Silent,Silent,Missense_D226V exm68492 1 74670617 [T/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Silent,Silent,Silent,Missense_C309R exm68504 1 74670891 [A/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Silent,Silent,Silent,Missense_S400N exm68505 1 74671034 [A/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Missense_I194V,Silent,Synonymous_A175A,Missense_I448V exm68509 1 74671074 [T/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Missense_P207L,Silent,Silent,Missense_P461L exm68511 1 74671077 [T/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Missense_A208V,Silent,Silent,Missense_A462V var_1_74671167 1 74671167 [I/D] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON exm68515 1 74671275 [T/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Missense_G274V,Silent,Silent,Missense_G528V exm68517 1 74671283 [A/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Missense_T277A,Silent,Silent,Missense_T531A exm-rs520806 1 74673341 [T/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Silent,Silent,Silent,Silent rs485929 1 74678285 [A/G] NM_001112808,NM_001199327 FPGT-TNNI3K,FPGT-TNNI3K Silent,Silent exm68529 1 74701787 [A/T] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_D128E,Missense_D128E,Missense_D14E rs11210443 1 74704513 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs481387 1 74710450 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent variant.4217 1 74715186 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_E179X,Nonsense_E179X,Nonsense_E65X variant.4218 1 74716406 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_R210X,Nonsense_R210X,Nonsense_R96X exm1891095 1 74716413 [A/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_T212K,Missense_T212K,Missense_T98K exm68540 1 74716443 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_A222V,Missense_A222V,Missense_A108V rs514012 1 74737081 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent indel.4219 1 74737318 [D/I] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON variant.4220 1 74737330 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_Q242X,Nonsense_Q242X,Nonsense_Q128X exm68544 1 74737345 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_G247S,Missense_G247S,Missense_G133S exm68545 1 74737346 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_G247V,Missense_G247V,Missense_G133V variant.4221 1 74737397 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs11210445 1 74756402 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs6684409 1 74762198 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs486784 1 74787647 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs17095146 1 74794119 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent exm2233801 1 74797140 [G/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_D265H,Missense_D265H,Missense_D151H exm68552 1 74797201 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_L285S,Missense_L285S,Missense_L171S newrs56257331 1 74808573 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_R358X,Nonsense_R358X,Nonsense_R244X variant.4224 1 74808579 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_G360X,Nonsense_G360X,Nonsense_G246X exm68565 1 74808620 [C/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_L373F,Missense_L373F,Missense_L259F exm68566 1 74808631 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_P377L,Missense_P377L,Missense_P263L exm68569 1 74808805 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_I406V,Missense_I406V,Missense_I292V indel.4226 1 74808813 [I/D] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON exm68572 1 74818977 [C/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_D434E,Missense_D434E,Missense_D320E newrs139261072 1 74819662 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent exm68581 1 74819712 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_L473X,Nonsense_L473X,Nonsense_L359X exm68583 1 74819748 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_C485F,Missense_C485F,Missense_C371F exm68588 1 74819807 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_E505X,Nonsense_E505X,Nonsense_E391X variant.4230 1 74833027 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent variant.4232 1 74833650 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent newrs41289190 1 74835124 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_R622X,Nonsense_R622X,Nonsense_R508X exm68604 1 74835130 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_V624L,Missense_V624L,Missense_V510L exm68607 1 74835152 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_N631S,Missense_N631S,Missense_N517S indel.4234 1 74835231 [I/D] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON variant.4235 1 74835270 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent exm68618 1 74836076 [C/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_S705T,Missense_S705T,Missense_S591T variant.4237 1 74836078 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent exm2265018 1 74861767 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs12028841 1 74879364 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs2203369 1 74885754 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs1341573 1 74896816 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent indel.4238 1 74902164 [I/D] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON newrs145440221 1 74902210 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Synonymous_G740G,Synonymous_G740G,Synonymous_G626G variant.4240 1 74902215 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent exm2233802 1 74905205 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_T751M,Missense_T751M,Missense_T637M exm68632 1 74905291 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_A780T,Missense_A780T,Missense_A666T newrs140657235 1 74905306 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_A785T,Missense_A785T,Missense_A671T variant.4242 1 74905308 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent variant.4243 1 74905311 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs1022915 1 74907002 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent exm68637 1 74929166 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_P799S,Missense_P799S,Missense_P685S exm68638 1 74929170 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_I800T,Missense_I800T,Missense_I686T variant.4245 1 74929211 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_R814X,Nonsense_R814X,Nonsense_R700X rs612695 1 74934996 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Silent,Silent rs3765674 1 74937749 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Synonymous_H519H,Synonymous_H487H exm2263826 1 74939570 [A/C] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 Silent,Silent,Silent,Silent rs649058 1 74941293 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_T369I,Missense_T337I rs9326113 1 74948186 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 Silent,Silent,Silent,Silent exm68661 1 74954900 [A/G] NM_001112808,NM_015978,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53 EXON Missense_M831V,Missense_M717V,Silent exm68670 1 74957907 [G/C] NM_001112808,NM_015978,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53 EXON Missense_E884Q,Missense_E770Q,Silent exm68672 1 74957950 [A/G] NM_001112808,NM_015978,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53 EXON Missense_S898N,Missense_S784N,Silent rs17095501 1 74983721 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs1514175 1 74991644 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent exm-rs1514175 1 74991644 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent var_1_75005916 1 75005916 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs6604871 1 75008008 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent exm68684 1 75009607 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K EXON Missense_M931V,Missense_M817V exm68689 1 75009655 [T/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K EXON Missense_D947Y,Missense_D833Y rs6694355 1 75010536 [T/G] rs7541513 1 75014195 [A/G] rs1443372 1 75019436 [A/G] exm68692 1 75036783 [T/C] NM_001002912 ERICH3 EXON Silent exm68694 1 75036812 [T/C] NM_001002912 ERICH3 EXON Missense_V1528M variant.4251 1 75036863 [A/G] NM_001002912 ERICH3 EXON Nonsense_Q1511X indel.4252 1 75036873 [I/D] NM_001002912 ERICH3 EXON exm68703 1 75037000 [T/C] NM_001002912 ERICH3 EXON Missense_R1465K exm68704 1 75037007 [C/G] NM_001002912 ERICH3 EXON Missense_D1463H exm1893109 1 75037091 [T/C] NM_001002912 ERICH3 EXON Missense_G1435R exm68709 1 75037108 [A/G] NM_001002912 ERICH3 EXON Missense_A1429V indel.4254 1 75037272 [I/D] NM_001002912 ERICH3 EXON exm68716 1 75037334 [C/G] NM_001002912 ERICH3 EXON Missense_A1354P exm68721 1 75037385 [T/C] NM_001002912 ERICH3 EXON Missense_V1337I exm68728 1 75037566 [G/C] NM_001002912 ERICH3 EXON Missense_E1276D exm68736 1 75037708 [A/G] NM_001002912 ERICH3 EXON Missense_A1229V exm68739 1 75037756 [T/C] NM_001002912 ERICH3 EXON Missense_E1213G exm68740 1 75037757 [T/C] NM_001002912 ERICH3 EXON Missense_E1213K exm68750 1 75037867 [T/C] NM_001002912 ERICH3 EXON Missense_E1176G exm68757 1 75038050 [A/G] NM_001002912 ERICH3 EXON Missense_T1115I exm68764 1 75038148 [A/C] NM_001002912 ERICH3 EXON Missense_R1082S exm68766 1 75038228 [A/C] NM_001002912 ERICH3 EXON Missense_L1056V exm68767 1 75038252 [A/C] NM_001002912 ERICH3 EXON Nonsense_E1048X exm1893126 1 75038318 [T/G] NM_001002912 ERICH3 EXON Missense_K1026Q exm1893128 1 75038474 [T/C] NM_001002912 ERICH3 EXON Missense_I974V exm68776 1 75038477 [A/C] NM_001002912 ERICH3 EXON Missense_A973S exm68781 1 75038558 [T/C] NM_001002912 ERICH3 EXON Missense_E946K var_1_75038572 1 75038573 [D/I] NM_001002912 ERICH3 EXON exm68784 1 75038603 [T/C] NM_001002912 ERICH3 EXON Missense_G931R exm68785 1 75038608 [T/C] NM_001002912 ERICH3 EXON Missense_E929G exm68786 1 75038624 [T/C] NM_001002912 ERICH3 EXON Missense_E924K exm68796 1 75038747 [A/G] NM_001002912 ERICH3 EXON Missense_L883F exm68804 1 75038833 [G/C] NM_001002912 ERICH3 EXON Missense_G854A exm68805 1 75038836 [A/T] NM_001002912 ERICH3 EXON Missense_E853V variant.4263 1 75038924 [A/C] NM_001002912 ERICH3 EXON Nonsense_E824X exm68815 1 75038927 [T/C] NM_001002912 ERICH3 EXON Missense_E823K exm68819 1 75038963 [A/C] NM_001002912 ERICH3 EXON Missense_A811S exm68826 1 75039091 [A/G] NM_001002912 ERICH3 EXON Missense_T768I exm68828 1 75039125 [T/C] NM_001002912 ERICH3 EXON Missense_K757E exm68841 1 75055313 [A/G] NM_001002912,NR_121671 ERICH3,ERICH3-AS1 Silent,Silent exm68848 1 75055419 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_H691R,Silent,Silent rs2305549 1 75055419 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_H691R,Silent,Silent exm68857 1 75055585 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_I636V,Silent,Silent exm68859 1 75055741 [A/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_S584A,Silent,Silent exm68861 1 75055749 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_S581L,Silent,Silent variant.4266 1 75055766 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent variant.4267 1 75065374 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent exm1893197 1 75065377 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent exm68864 1 75065391 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_E572K,Silent,Silent exm68869 1 75065422 [C/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_E561D,Silent,Silent exm68870 1 75065441 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_R555H,Silent,Silent exm68873 1 75065459 [A/T] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_Q549L,Silent,Silent variant.4269 1 75065460 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Nonsense_Q549X,Silent,Silent exm68879 1 75065525 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_P527L,Silent,Silent rs10890137 1 75071003 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent rs696702 1 75072038 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent exm68887 1 75072425 [T/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_T450N,Silent,Silent exm68892 1 75072513 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_G421R,Silent,Silent exm68897 1 75072554 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_P407L,Silent,Silent exm68899 1 75078356 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Nonsense_R380X,Silent,Silent variant.4270 1 75078422 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Nonsense_Q358X,Silent,Silent exm68901 1 75078423 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_M357I,Silent,Silent exm1893219 1 75078484 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_Q337R,Silent,Silent exm68906 1 75086463 [G/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_G319R,Silent,Silent exm68908 1 75086496 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_R308W,Silent,Silent exm68909 1 75086510 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_D303G,Silent,Silent exm68913 1 75086570 [A/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Nonsense_L283X,Silent,Silent exm68915 1 75086586 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_I278V,Silent,Silent exm68921 1 75097426 [G/C] NM_001002912 ERICH3 EXON Missense_P264A exm68923 1 75097483 [T/G] NM_001002912 ERICH3 EXON Missense_T245P exm1893247 1 75097596 [A/G] NM_001002912 ERICH3 EXON Missense_M207T newrs138459477 1 75101964 [T/C] NM_001002912 ERICH3 EXON Synonymous_G201G exm2253076 1 75101997 [T/C] NM_001002912 ERICH3 EXON Synonymous_S190S exm68929 1 75102044 [T/C] NM_001002912 ERICH3 EXON Missense_V175I exm1893251 1 75107016 [T/A] NM_001002912 ERICH3 EXON Missense_L148Q exm68935 1 75107043 [T/C] NM_001002912 ERICH3 EXON Missense_D139G exm68944 1 75108727 [T/C] NM_001002912 ERICH3 EXON Missense_R100Q exm68950 1 75108781 [T/C] NM_001002912 ERICH3 EXON Missense_R82H exm68952 1 75112419 [A/G] NM_001002912 ERICH3 EXON Missense_R59W variant.4275 1 75114901 [T/C] NM_001002912 ERICH3 Silent rs730645 1 75118172 [T/C] NM_001002912 ERICH3 Silent rs564725 1 75121016 [T/C] NM_001002912 ERICH3 Silent rs12239912 1 75130289 [T/C] NM_001002912 ERICH3 Silent rs17095739 1 75147840 [T/C] rs10493547 1 75151932 [A/G] rs696672 1 75155271 [A/G] rs699801 1 75157273 [T/C] exm2268707 1 75166623 [T/C] rs6662846 1 75170143 [A/C] kgp6377218 1 75171182 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp507955 1 75171211 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp6662441 1 75171550 [T/A] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent rs17459 1 75171751 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp15658119 1 75171784 [A/T] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp15427472 1 75171844 [G/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp15169674 1 75171938 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp7261306 1 75172001 [A/T] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Synonymous_G289G,Synonymous_G186G,Synonymous_G323G,Synonymous_G323G exm68962 1 75172042 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_E276K,Missense_E173K,Missense_E310K,Missense_E310K exm68966 1 75172131 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_Q246R,Missense_Q143R,Missense_Q280R,Missense_Q280R kgp15427617 1 75172139 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Synonymous_E243E,Synonymous_E140E,Synonymous_E277E,Synonymous_E277E variant.4276 1 75172143 [T/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent newrs145799649 1 75172583 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Synonymous_K242K,Synonymous_K139K,Synonymous_K276K,Synonymous_K276K indel.4279 1 75172594 [I/D] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON exm68970 1 75172620 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_S230L,Missense_S127L,Missense_S264L,Missense_S264L newrs142760907 1 75172642 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Nonsense_R223X,Nonsense_R120X,Nonsense_R257X,Nonsense_R257X rs17552114 1 75172652 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Synonymous_E219E,Synonymous_E116E,Synonymous_E253E,Synonymous_E253E rs4650281 1 75173051 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent kgp15915289 1 75175797 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Synonymous_Y205Y,Synonymous_Y68Y,Synonymous_Y205Y,Synonymous_Y205Y variant.4282 1 75175835 [A/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Nonsense_G193X,Nonsense_G56X,Nonsense_G193X,Nonsense_G193X indel.4283 1 75175842 [I/D] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON exm68989 1 75175865 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_E183K,Missense_E46K,Missense_E183K,Missense_E183K exm68990 1 75175886 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_I176V,Missense_I39V,Missense_I176V,Missense_I176V rs7522428 1 75178360 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent exm68998 1 75184954 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_F123L,Silent,Missense_F123L,Missense_F123L exm69000 1 75184990 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_D111N,Silent,Missense_D111N,Missense_D111N exm69004 1 75185057 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent variant.4287 1 75188801 [A/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent exm69010 1 75188902 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_R55H,Silent,Missense_R55H,Missense_R55H exm69013 1 75188918 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_V50M,Silent,Missense_V50M,Missense_V50M variant.4288 1 75190390 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent variant.4289 1 75190433 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Nonsense_R25X,Silent,Nonsense_R25X,Nonsense_R25X kgp2662069 1 75190452 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Synonymous_G18G,Silent,Synonymous_G18G,Synonymous_G18G kgp9120456 1 75198740 [A/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp15455600 1 75198788 [A/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp15121168 1 75198967 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042,NM_001162916,NM_138467,NR_027962 CRYZ,CRYZ,CRYZ,CRYZ,TYW3,TYW3,TYW3 EXON Silent,Silent,Silent,Silent,Synonymous_Q13Q,Synonymous_Q13Q,Silent exm69026 1 75199023 [A/C] NM_001130043,NM_001134759,NM_001889,NM_001130042,NM_001162916,NM_138467,NR_027962 CRYZ,CRYZ,CRYZ,CRYZ,TYW3,TYW3,TYW3 EXON Silent,Silent,Silent,Silent,Missense_E32A,Missense_E32A,Silent exm69034 1 75204416 [A/T] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Silent,Missense_F100I,Silent rs11538281 1 75204447 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Silent,Missense_R110Q,Silent exm69035 1 75204447 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Silent,Missense_R110Q,Silent exm69040 1 75214441 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Missense_M88V,Missense_M121V,Silent rs1133891 1 75214441 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Missense_M88V,Missense_M121V,Silent exm69047 1 75218014 [A/C] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Missense_S122R,Missense_S155R,Silent variant.4291 1 75229576 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 Silent,Silent,Silent exm69050 1 75229588 [T/C] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Missense_C158R,Missense_C191R,Silent exm69051 1 75229609 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Missense_R165G,Missense_R198G,Silent exm2273656 1 75229621 [T/A] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Missense_T169S,Missense_T202S,Silent indel.4292 1 75229679 [D/I] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON rs3931020 1 75235317 [T/C] rs12125889 1 75241971 [T/C] rs7547190 1 75252764 [T/C] rs277357 1 75290369 [T/C] rs11161851 1 75298782 [T/C] rs277367 1 75300318 [A/C] rs17096072 1 75301386 [T/C] rs1327080 1 75311357 [A/G] rs1409787 1 75332745 [T/C] rs7367789 1 75357094 [A/G] rs6593547 1 75362429 [T/G] rs1413994 1 75373403 [A/G] rs12569094 1 75380989 [T/G] rs10782637 1 75403587 [A/C] rs3845358 1 75449592 [A/C] rs3856036 1 75464592 [A/C] rs12081831 1 75471898 [T/C] rs795576 1 75473978 [T/C] rs12089365 1 75486214 [A/G] rs7531164 1 75488437 [A/C] rs1581586 1 75502014 [A/C] rs7541725 1 75549806 [T/C] exm1893991 1 75596410 [T/C] NM_001001933 LHX8 EXON Missense_L4P exm69065 1 75602300 [A/C] NM_001001933,NM_001256114 LHX8,LHX8 EXON Missense_M11L,Missense_M1L exm69072 1 75602801 [T/C] NM_001001933,NM_001256114 LHX8,LHX8 EXON Missense_A41V,Missense_A31V exm69095 1 75622662 [A/C] NM_001001933,NM_001256114 LHX8,LHX8 EXON Missense_P299T,Missense_P289T exm69103 1 75622741 [T/C] NM_001001933,NM_001256114 LHX8,LHX8 EXON Missense_A325V,Missense_A315V rs6593568 1 75637919 [A/G] rs11162738 1 75665476 [T/C] variant.4294 1 75669417 [A/G] NM_001130058,NM_001320287,NM_001320285 SLC44A5,SLC44A5,SLC44A5 EXON Nonsense_Q717X,Nonsense_Q675X,Nonsense_Q675X rs12132601 1 75671215 [T/C] NM_001130058,NM_001320287,NM_001320285 SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent newrs143081523 1 75672405 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent exm69115 1 75677192 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_V670I,Missense_V628I,Missense_V628I,Missense_V664I,Missense_V670I variant.4296 1 75679385 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent variant.4297 1 75683551 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_R542C,Missense_R500C,Missense_R500C,Missense_R536C,Missense_R542C exm69127 1 75684184 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_R507Q,Missense_R465Q,Missense_R465Q,Missense_R501Q,Missense_R507Q exm69128 1 75684185 [G/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_R507G,Missense_R465G,Missense_R465G,Missense_R501G,Missense_R507G exm69142 1 75685576 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_A363T,Missense_A321T,Missense_A321T,Missense_A357T,Missense_A363T rs627494 1 75686746 [T/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent exm69153 1 75693501 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_R299C,Missense_R257C,Missense_R257C,Missense_R293C,Missense_R299C rs10493565 1 75699771 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Synonymous_I251I,Synonymous_I209I,Synonymous_I209I,Synonymous_I245I,Synonymous_I251I variant.4298 1 75702672 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_I247T,Missense_I205T,Missense_I205T,Missense_I241T,Missense_I247T exm69173 1 75708628 [C/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_D138E,Missense_D96E,Missense_D96E,Missense_D132E,Missense_D138E rs649352 1 75714554 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent exm2253106 1 75716925 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Synonymous_V105V,Synonymous_V63V,Synonymous_V63V,Synonymous_V99V,Synonymous_V105V rs604745 1 75722527 [A/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs623850 1 75766186 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs12127347 1 75779404 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent exm2268902 1 75785718 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs2657206 1 75794538 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent exm1894957 1 75805301 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_Y23H,Silent,Silent,Missense_Y17H,Missense_Y23H rs1700909 1 75806045 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent exm2264859 1 75818341 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs1249837 1 75819102 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs1249849 1 75830438 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs1249810 1 75834454 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent newrs79353172 1 75862263 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent exm69196 1 75862292 [T/A] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_T10S,Silent,Silent,Silent,Missense_T10S rs1249813 1 75862526 [A/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs1249794 1 75876192 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent exm-rs1857353 1 75913826 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs6676696 1 75917304 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs10874305 1 75937429 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs11163461 1 75941966 [A/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs12738260 1 75966345 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs13373826 1 75970795 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs6658825 1 75974819 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs1571983 1 75982426 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs184159 1 75998695 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs6670304 1 76023350 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs7518629 1 76023860 [T/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs211699 1 76025003 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs211762 1 76032904 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs11578532 1 76038320 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs396106 1 76055098 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs6662665 1 76068279 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs6593584 1 76080162 [A/G] NM_001320283 SLC44A5 Silent rs6675067 1 76088392 [A/C] rs211718 1 76106675 [T/C] exm-rs211718 1 76106675 [T/C] rs440826 1 76120300 [T/C] rs814854 1 76133823 [A/G] rs1535740 1 76134765 [A/C] rs12079369 1 76137632 [T/C] rs11164042 1 76178440 [A/G] rs1251079 1 76189445 [T/C] rs1250880 1 76196602 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent exm69215 1 76198337 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_E7K,Silent,Missense_E47K,Missense_E43K,Missense_E43K exm69219 1 76198409 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_Y31H,Silent,Missense_Y71H,Missense_Y67H,Missense_Y67H variant.4303 1 76198596 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_P56L,Silent,Missense_P96L,Missense_P92L,Missense_P92L variant.4304 1 76198734 [A/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent exm2253134 1 76199277 [A/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Synonymous_T81T,Silent,Synonymous_T121T,Synonymous_T150T,Synonymous_T117T indel.4306 1 76200514 [D/I] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON exm69239 1 76205722 [T/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_A140S,Silent,Missense_A180S,Missense_A209S,Missense_A176S var_1_76205796 1 76205796 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent newrs148260275 1 76205797 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent variant.4311 1 76211507 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_R170C,Missense_R17C,Missense_R210C,Missense_R239C,Missense_R206C exm69249 1 76211557 [A/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_F186L,Missense_F33L,Missense_F226L,Missense_F255L,Missense_F222L newrs149678400 1 76211574 [A/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_T192N,Missense_T39N,Missense_T232N,Missense_T261N,Missense_T228N rs1146581 1 76213024 [T/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent exm69252 1 76215192 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_D230G,Missense_D77G,Missense_D270G,Missense_D299G,Missense_D266G exm69254 1 76215194 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_G231R,Missense_G78R,Missense_G271R,Missense_G300R,Missense_G267R var_1_76215242 1 76215242 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_V247I,Missense_V94I,Missense_V287I,Missense_V316I,Missense_V283I indel.4318 1 76226845 [D/I] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON exm69261 1 76226846 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_K293E,Missense_K140E,Missense_K333E,Missense_K362E,Missense_K329E newrs148207467 1 76226906 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Nonsense_R313X,Nonsense_R160X,Nonsense_R353X,Nonsense_R382X,Nonsense_R349X newrs150310121 1 76226946 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_G326E,Missense_G173E,Missense_G366E,Missense_G395E,Missense_G362E exm69265 1 76226952 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_I328T,Missense_I175T,Missense_I368T,Missense_I397T,Missense_I364T rs11549022 1 76227022 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Synonymous_V351V,Synonymous_V198V,Synonymous_V391V,Synonymous_V420V,Synonymous_V387V variant.4324 1 76251964 [T/G] NM_004582,NR_073562 RABGGTB,RABGGTB Silent,Silent rs1146634 1 76252011 [A/G] NM_004582,NR_073562 RABGGTB,RABGGTB Silent,Silent exm2253141 1 76253229 [T/A] NM_004582,NR_073562 RABGGTB,RABGGTB EXON Synonymous_T17T,Silent indel.4325 1 76255707 [I/D] NM_004582,NR_073562 RABGGTB,RABGGTB EXON exm69311 1 76257984 [T/C] NM_004582,NR_073562 RABGGTB,RABGGTB EXON Missense_P233L,Silent exm69323 1 76260335 [G/C] NM_004582,NR_073562 RABGGTB,RABGGTB EXON Missense_X332Y,Silent exm69332 1 76262773 [A/C] NM_002440 MSH4 EXON Missense_L35I exm69338 1 76262885 [A/G] NM_002440 MSH4 EXON Missense_C72Y exm69344 1 76269439 [A/G] NM_002440 MSH4 EXON Missense_A90T exm69345 1 76269451 [A/G] NM_002440 MSH4 EXON Missense_N94D exm69346 1 76269460 [A/G] NM_002440 MSH4 EXON Missense_A97T rs5745325 1 76269460 [A/G] NM_002440 MSH4 EXON Missense_A97T exm69350 1 76272666 [T/C] NM_002440 MSH4 EXON Missense_A143V exm69351 1 76272681 [T/C] NM_002440 MSH4 EXON Missense_A148V exm69354 1 76272778 [A/C] NM_002440 MSH4 EXON Missense_N180K variant.4330 1 76272831 [A/G] NM_002440 MSH4 Silent rs5745343 1 76273805 [T/C] NM_002440 MSH4 Silent rs1144333 1 76275100 [A/G] NM_002440 MSH4 Silent rs12024645 1 76284395 [A/G] NM_002440 MSH4 Silent exm69371 1 76288152 [T/C] NM_002440 MSH4 EXON Nonsense_R350X exm69372 1 76288193 [A/T] NM_002440 MSH4 EXON Missense_E363D rs2172507 1 76331320 [T/C] NM_002440 MSH4 Silent exm69391 1 76343943 [A/G] NM_002440 MSH4 EXON Missense_I494V exm69392 1 76343945 [A/G] NM_002440 MSH4 EXON Missense_I494M exm69401 1 76345823 [A/G] NM_002440 MSH4 EXON Missense_Y589C exm2233822 1 76345825 [C/G] NM_002440 MSH4 EXON Missense_H590D indel.4337 1 76349332 [D/I] NM_002440 MSH4 EXON var_1_76349452 1 76349452 [T/G] NM_002440 MSH4 EXON Nonsense_G685X indel.4339 1 76349472 [D/I] NM_002440 MSH4 EXON exm69419 1 76355026 [A/C] NM_002440 MSH4 EXON Nonsense_S733X rs1001160 1 76358591 [A/C] NM_002440 MSH4 Silent exm69428 1 76363707 [A/C] NM_002440 MSH4 EXON Missense_K824T exm1897173 1 76363728 [A/G] NM_002440 MSH4 EXON Missense_Y831C exm69430 1 76363756 [G/C] NM_002440 MSH4 EXON Missense_E840D rs6687882 1 76364825 [A/C] NM_002440 MSH4 Silent exm69443 1 76378459 [T/C] NM_002440 MSH4 EXON Nonsense_R900X exm69444 1 76378502 [A/G] NM_002440 MSH4 EXON Missense_S914N rs10782582 1 76383297 [A/G] exm1897247 1 76384659 [T/A] NR_026546,NM_080868 ASB17,ASB17 EXON Silent,Missense_N289I exm69450 1 76384668 [T/C] NR_026546,NM_080868 ASB17,ASB17 EXON Silent,Missense_R286H exm69453 1 76384785 [A/G] NR_026546,NM_080868 ASB17,ASB17 EXON Silent,Missense_S247L exm2264860 1 76386305 [A/G] NR_026546,NM_080868 ASB17,ASB17 Silent,Silent exm69465 1 76388015 [A/G] NR_026546,NM_080868 ASB17,ASB17 EXON Silent,Missense_P144L variant.4347 1 76397575 [A/C] NR_026546,NM_080868 ASB17,ASB17 Silent,Silent exm69468 1 76397581 [T/C] NR_026546,NM_080868 ASB17,ASB17 EXON Silent,Missense_I132M indel.4348 1 76397780 [I/D] NR_026546,NM_080868 ASB17,ASB17 EXON exm69478 1 76397972 [T/C] NR_026546,NM_080868 ASB17,ASB17 EXON Silent,Missense_S2N rs6593520 1 76398305 [A/G] rs1770886 1 76402145 [A/G] rs1251543 1 76441220 [T/C] rs12084383 1 76451288 [A/G] rs1770878 1 76456329 [T/C] rs1251531 1 76469334 [A/G] rs11162065 1 76474354 [T/C] exm-rs12753569 1 76484014 [T/G] NR_125939 LOC101927342 Silent rs6703034 1 76485783 [T/C] rs1370714 1 76497033 [T/C] rs11162070 1 76499313 [T/C] rs17097968 1 76501151 [A/G] rs10493579 1 76503195 [T/C] rs1251484 1 76504146 [T/C] rs17097991 1 76506666 [A/G] rs1013629 1 76513759 [T/C] rs11800149 1 76534883 [A/G] rs1251467 1 76536649 [T/C] rs12118231 1 76540210 [T/G] rs1251578 1 76550721 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1144346 1 76552475 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs289692 1 76556292 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1251575 1 76557784 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs289679 1 76569151 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10493583 1 76570926 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17098119 1 76585643 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11162084 1 76589102 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11162086 1 76601214 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs915403 1 76602605 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4245647 1 76610257 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs418644 1 76610397 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1414406 1 76628659 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11162094 1 76645080 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4949697 1 76652957 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs923246 1 76658460 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs517036 1 76680525 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs573657 1 76697767 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs490570 1 76700571 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs472536 1 76714019 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs536811 1 76719571 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4949624 1 76732617 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6695042 1 76739856 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11162112 1 76745026 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12131613 1 76746406 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17098538 1 76746909 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11162113 1 76749527 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1537783 1 76752116 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4949626 1 76755492 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6701166 1 76771114 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs10873876 1 76772328 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3884182 1 76774201 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6681765 1 76777065 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.4350 1 76779506 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_A12V,Silent,Missense_A12V,Missense_A12V,Missense_A24V,Silent,Missense_A12V,Missense_A12V,Silent rs9437421 1 76786084 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10493591 1 76796785 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs942699 1 76820435 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4638174 1 76824240 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12071740 1 76832860 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12032409 1 76833594 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12239582 1 76837237 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7339997 1 76840373 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6688662 1 76842133 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1925359 1 76852740 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12096348 1 76865591 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11162148 1 76870699 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2268708 1 76870939 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm69499 1 76877767 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_N96K,Missense_N8K,Missense_N96K,Missense_N96K,Missense_N108K,Missense_N31K,Missense_N96K,Missense_N96K,Missense_N31K variant.4352 1 76877777 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Nonsense_R100X,Nonsense_R12X,Nonsense_R100X,Nonsense_R100X,Nonsense_R112X,Nonsense_R35X,Nonsense_R100X,Nonsense_R100X,Nonsense_R35X exm69507 1 76877896 [C/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_N139K,Missense_N51K,Missense_N139K,Missense_N139K,Missense_N151K,Missense_N74K,Missense_N139K,Missense_N139K,Missense_N74K exm69509 1 76877954 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_R159C,Missense_R71C,Missense_R159C,Missense_R159C,Missense_R171C,Missense_R94C,Missense_R159C,Missense_R159C,Missense_R94C exm69512 1 76878014 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_I179V,Missense_I91V,Missense_I179V,Missense_I179V,Missense_I191V,Missense_I114V,Missense_I179V,Missense_I179V,Missense_I114V rs2392038 1 76879210 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7529530 1 76890999 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6688867 1 76898576 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4949718 1 76899464 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12742405 1 76907906 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7546379 1 76910399 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7413797 1 76927674 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7544496 1 76931051 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6691403 1 76934790 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2265019 1 76939676 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12075814 1 76945339 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4949724 1 76966447 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4949632 1 76976522 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs188789 1 76979428 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12749279 1 76980646 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs423480 1 76985313 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs315079 1 77000914 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10873891 1 77002699 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs315066 1 77011016 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs172714 1 77015113 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17099155 1 77019986 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs170261 1 77020803 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs315049 1 77023273 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs315014 1 77033959 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs436806 1 77040188 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11162180 1 77041553 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7513970 1 77041694 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12117865 1 77048617 [T/C] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs315034 1 77051174 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2647389 1 77072458 [T/C] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm69523 1 77093180 [A/C] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_L135I,Missense_L223I,Missense_L235I,Missense_L158I,Silent,Silent,Silent rs1184626 1 77093180 [A/C] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_L135I,Missense_L223I,Missense_L235I,Missense_L158I,Silent,Silent,Silent exm1898998 1 77093195 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_A140T,Missense_A228T,Missense_A240T,Missense_A163T,Silent,Silent,Silent exm69524 1 77093243 [A/C] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_K156Q,Missense_K244Q,Missense_K256Q,Missense_K179Q,Silent,Silent,Silent rs627873 1 77093530 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1173686 1 77093829 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2253177 1 77094338 [T/C] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Synonymous_Y167Y,Synonymous_Y255Y,Synonymous_Y267Y,Synonymous_Y190Y,Synonymous_Y219Y,Silent,Synonymous_Y154Y exm69528 1 77094374 [A/T] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_F179L,Missense_F267L,Missense_F279L,Missense_F202L,Missense_F231L,Silent,Missense_F166L exm69529 1 77094375 [A/C] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_L180I,Missense_L268I,Missense_L280I,Missense_L203I,Missense_L232I,Silent,Missense_L167I rs2349044 1 77104773 [A/G] rs1925415 1 77109465 [T/C] rs11162187 1 77132763 [T/C] rs689423 1 77138904 [A/G] rs10873899 1 77146173 [A/G] rs507630 1 77149207 [T/G] rs9324157 1 77168568 [T/G] rs489723 1 77170017 [A/G] rs1874806 1 77187595 [A/C] rs647890 1 77190350 [T/C] rs2173399 1 77210385 [T/C] rs1566250 1 77214364 [T/C] rs962668 1 77217180 [T/C] rs7530899 1 77238731 [A/G] NR_149059 LINC02567 Silent rs11162205 1 77242042 [T/C] NR_149059 LINC02567 Silent rs4506508 1 77256336 [A/C] rs11577464 1 77259107 [A/G] rs7534641 1 77266676 [A/G] rs4526656 1 77282567 [A/G] rs11162217 1 77284346 [A/G] rs12126169 1 77291022 [T/C] exm2265020 1 77295109 [A/G] rs1316659 1 77299392 [T/C] rs9660892 1 77323384 [T/C] rs1004878 1 77324640 [T/G] rs1522618 1 77332627 [T/C] rs17099690 1 77371741 [T/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs1766285 1 77387631 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs17368584 1 77396166 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs3113982 1 77397124 [T/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs1252593 1 77405284 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs12124645 1 77412583 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs858600 1 77425159 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs2143582 1 77453593 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs1933393 1 77456303 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs10873925 1 77461735 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs1933399 1 77464831 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs10782639 1 77477215 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs199667 1 77480445 [T/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs199679 1 77487417 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs199696 1 77505413 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent exm69571 1 77510163 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 EXON Silent,Silent,Missense_R179Q exm69578 1 77515977 [T/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 EXON Missense_V99G,Silent,Missense_F236V exm1903051 1 77528749 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 EXON Silent,Silent,Missense_R290H rs199724 1 77531780 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 EXON Silent,Silent,Silent rs169215 1 77546091 [A/C] exm2253243 1 77547831 [T/C] rs199710 1 77550431 [T/C] rs6688757 1 77550946 [T/G] rs4949766 1 77569489 [T/C] NM_005482 PIGK Silent rs7550325 1 77569545 [T/C] NM_005482 PIGK Silent rs6683950 1 77592351 [T/C] NM_005482 PIGK Silent rs858447 1 77607160 [A/G] NM_005482 PIGK Silent exm69602 1 77627018 [T/C] NM_005482 PIGK EXON Missense_E259K newrs142473240 1 77627279 [T/C] NM_005482 PIGK EXON Synonymous_S234S variant.4360 1 77629530 [T/C] NM_005482 PIGK Silent exm69613 1 77629532 [A/G] NM_005482 PIGK EXON Missense_R195C exm69617 1 77629565 [T/C] NM_005482 PIGK EXON Missense_A184T exm69619 1 77632448 [T/C] NM_005482 PIGK EXON Missense_R148H exm69621 1 77632493 [T/C] NM_005482 PIGK EXON Missense_R133Q rs1098125 1 77640166 [T/C] NM_005482 PIGK Silent rs1829913 1 77644806 [T/C] NM_005482 PIGK Silent exm1903901 1 77672404 [A/G] NM_005482 PIGK EXON Nonsense_R54X exm69632 1 77685042 [T/C] NM_005482 PIGK EXON Missense_T16A exm69634 1 77685050 [A/G] NM_005482 PIGK EXON Missense_V13A rs11162293 1 77696605 [A/G] rs10518440 1 77696822 [A/G] rs12131286 1 77697582 [T/C] rs11162297 1 77700928 [A/G] rs12040629 1 77705365 [A/G] rs2689672 1 77707391 [T/G] rs17100075 1 77726109 [T/C] rs12119637 1 77733420 [A/G] rs6692536 1 77734562 [A/G] rs940283 1 77737217 [T/C] rs11807469 1 77746265 [T/C] rs1851736 1 77747248 [T/G] rs7534033 1 77749322 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs11806344 1 77756532 [T/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent exm69660 1 77763309 [A/G] NM_174858,NM_012093 AK5,AK5 EXON Missense_I161V,Missense_I135V rs10782646 1 77766847 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs1167198 1 77779836 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs7514177 1 77782761 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs11162319 1 77808677 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs6696968 1 77809846 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs17379082 1 77812803 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs4949653 1 77822519 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs11162326 1 77836489 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs17100475 1 77839480 [T/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs10873933 1 77840100 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs11162331 1 77850800 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs3844165 1 77854238 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs4949800 1 77857683 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs17379910 1 77863068 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs6663047 1 77865140 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent exm2264861 1 77865140 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs11162334 1 77865771 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2882289 1 77872142 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs4949802 1 77876353 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs7512897 1 77880188 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs10493606 1 77886499 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs11162341 1 77897713 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs12407481 1 77904451 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs6658302 1 77908985 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2647506 1 77914159 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs12568376 1 77924890 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2647503 1 77939418 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs7522356 1 77951460 [T/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs9324162 1 77954804 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2647497 1 77955556 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs3104467 1 77971047 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs17380796 1 77976117 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs10873947 1 77986516 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent exm69694 1 77987557 [A/G] NM_174858,NM_012093 AK5,AK5 EXON Missense_G453R,Missense_G427R exm69697 1 77987594 [A/G] NM_174858,NM_012093 AK5,AK5 EXON Missense_R465Q,Missense_R439Q rs17100672 1 77988371 [T/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2803136 1 77992695 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent exm69704 1 78001652 [T/C] NM_174858,NM_012093 AK5,AK5 EXON Missense_R517C,Missense_R491C rs4949659 1 78017571 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs1565851 1 78022217 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs7536433 1 78023173 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent exm69712 1 78031434 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_Q868R,Missense_Q374R exm69713 1 78031441 [A/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_D866Y,Missense_D372Y exm1907349 1 78034049 [C/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_E812Q,Missense_E318Q exm69720 1 78034075 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_K803R,Missense_K309R rs17100774 1 78039216 [A/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent exm1907440 1 78041762 [T/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_E774D,Missense_E280D exm69725 1 78041799 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_R762Q,Missense_R268Q exm2273657 1 78045291 [T/A] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_I668N,Missense_I174N exm69751 1 78047705 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_R584H,Missense_R90H exm-rs17381664 1 78048331 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent var_1_78050300 1 78050300 [A/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Nonsense_Q516X,Nonsense_Q22X exm69777 1 78097803 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_N413D,Silent exm69778 1 78097823 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_E406G,Silent exm69782 1 78097947 [T/A] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_M365L,Silent exm69786 1 78098003 [T/A] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_M346K,Silent exm69793 1 78098151 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_T297A,Silent exm2233836 1 78098190 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_T284A,Silent exm69803 1 78098402 [A/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_I213T,Silent exm69804 1 78098403 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_I213V,Silent exm69805 1 78098409 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_A211T,Silent exm69806 1 78098432 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_N203S,Silent indel.4370 1 78098810 [D/I] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON exm69823 1 78099032 [C/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_A3G,Silent rs278853 1 78130243 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent rs17100916 1 78141164 [A/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent variant.4371 1 78163079 [A/G] NM_015017,NM_201624 USP33,USP33 EXON Nonsense_R918X,Nonsense_R887X exm1908148 1 78178961 [T/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_P772T,Missense_P741T,Missense_P764T exm69858 1 78180445 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_K721R,Missense_K690R,Missense_K713R exm69865 1 78183666 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_V633I,Missense_V602I,Missense_V625I rs11162378 1 78183861 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 Silent,Silent,Silent rs12142671 1 78184325 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Synonymous_L596L,Synonymous_L565L,Synonymous_L588L exm69871 1 78184325 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Synonymous_L596L,Synonymous_L565L,Synonymous_L588L variant.4372 1 78187746 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Nonsense_Q540X,Nonsense_Q509X,Nonsense_Q540X exm69880 1 78187783 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_I527M,Missense_I496M,Missense_I527M rs11162379 1 78188917 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 Silent,Silent,Silent exm69885 1 78189051 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_I483V,Missense_I452V,Missense_I483V exm2233838 1 78194235 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_S325G,Missense_S294G,Missense_S325G exm69910 1 78194300 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_T303I,Missense_T272I,Missense_T303I exm69922 1 78201770 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_A173V,Missense_A142V,Missense_A173V exm69926 1 78204961 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_N145D,Missense_N114D,Missense_N145D exm69937 1 78207409 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_G23R,Silent,Missense_G23R exm69939 1 78245342 [T/G] NM_198549,NM_001270384 MIGA1,MIGA1 EXON Missense_M1R,Missense_M1R rs1166588 1 78254258 [T/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent variant.4374 1 78267014 [A/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent exm1908264 1 78267157 [A/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_I113L,Missense_I113L,Missense_I81L,Missense_I81L,Missense_I81L exm69960 1 78267163 [G/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_E115Q,Missense_E115Q,Missense_E83Q,Missense_E83Q,Missense_E83Q exm69965 1 78269053 [T/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_F158L,Missense_F158L,Missense_F126L,Missense_F126L,Missense_F126L exm69970 1 78279446 [A/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_R222H,Missense_R222H,Missense_R190H,Missense_R190H,Missense_R190H variant.4376 1 78279557 [A/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent exm69974 1 78280886 [T/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_S289P,Missense_S289P,Missense_S257P,Missense_S257P,Missense_S257P rs10873955 1 78284211 [A/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent rs6604878 1 78305783 [T/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent exm2268903 1 78305859 [T/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent exm69980 1 78324641 [A/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_V339I,Missense_V339I,Missense_V307I,Missense_V307I,Missense_V307I exm69987 1 78325752 [A/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_I406V,Missense_I406V,Missense_I374V,Missense_I374V,Missense_I374V variant.4377 1 78325770 [T/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Nonsense_G412X,Nonsense_G412X,Nonsense_G380X,Nonsense_G380X,Nonsense_G380X exm70004 1 78338763 [C/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_L546F,Missense_L547F,Missense_L514F,Missense_L514F,Missense_L514F exm70006 1 78338798 [T/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_F558S,Missense_F559S,Missense_F526S,Missense_F526S,Missense_F526S rs9663066 1 78339654 [T/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent exm70008 1 78340540 [A/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_L564I,Missense_L565I,Missense_L532I,Missense_L532I,Missense_L532I variant.4379 1 78383249 [A/G] NM_144573,NM_001172309 NEXN,NEXN Silent,Silent exm70040 1 78392222 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_E205K,Missense_E141K indel.4380 1 78392431 [D/I] NM_144573,NM_001172309 NEXN,NEXN EXON rs1166698 1 78392446 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_G245R,Missense_G181R exm1908376 1 78392548 [T/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_R279C,Missense_R215C variant.4382 1 78392577 [T/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_M288I,Missense_M224I exm70056 1 78395029 [C/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_T298R,Missense_T234R exm70060 1 78395131 [A/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_E332A,Missense_E268A exm70066 1 78399084 [T/C] NM_144573,NM_001172309 NEXN,NEXN EXON Nonsense_R391X,Nonsense_R327X rs1780050 1 78400540 [A/C] NM_144573,NM_001172309 NEXN,NEXN Silent,Silent exm70074 1 78401664 [C/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_E470Q,Missense_E406Q exm70076 1 78401691 [T/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_L479F,Missense_L415F exm70084 1 78407816 [G/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_E528Q,Missense_E464Q exm70086 1 78407852 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_M540V,Missense_M476V exm70093 1 78408274 [T/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_S596R,Missense_S532R indel.4384 1 78408431 [D/I] NM_144573,NM_001172309 NEXN,NEXN EXON exm70096 1 78408441 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_Y652C,Missense_Y588C rs12027636 1 78410240 [A/G] NR_146540,NR_146539 FUBP1,FUBP1 Silent,Silent exm70107 1 78422374 [T/C] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 EXON Silent,Silent,Silent,Missense_T551A,Missense_T530A exm70131 1 78429811 [A/G] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 EXON Silent,Silent,Silent,Missense_T347I,Missense_T326I exm70156 1 78433856 [T/G] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 EXON Silent,Silent,Silent,Missense_Q102H,Missense_Q81H variant.4387 1 78435604 [T/C] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 Silent,Silent,Silent,Silent,Silent variant.4388 1 78471010 [A/G] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 Silent,Silent,Silent,Silent,Silent,Silent rs6424648 1 78475199 [A/G] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 Silent,Silent,Silent,Silent,Silent,Silent exm1908526 1 78478821 [A/G] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 EXON Silent,Silent,Missense_A60T,Missense_A100T,Missense_A100T,Silent exm70178 1 78478903 [A/T] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 EXON Missense_I12K,Missense_I12K,Missense_I87K,Missense_I127K,Missense_I127K,Silent exm70192 1 78479287 [T/A] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 EXON Missense_K140I,Missense_K140I,Missense_K215I,Missense_K255I,Missense_K255I,Silent variant.4389 1 78479298 [T/C] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 EXON Nonsense_R144X,Nonsense_R144X,Nonsense_R219X,Nonsense_R259X,Nonsense_R259X,Silent rs1039863 1 78481640 [A/G] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 Silent,Silent,Silent,Silent,Silent,Silent exm70193 1 78481716 [A/G] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 EXON Missense_I152V,Missense_I152V,Missense_I227V,Missense_I267V,Missense_I267V,Missense_N77S exm70194 1 78481725 [T/C] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 EXON Missense_P155S,Missense_P155S,Missense_P230S,Missense_P270S,Missense_P270S,Silent rs6424659 1 78501215 [T/C] rs12411130 1 78502520 [A/C] exm70207 1 78511980 [T/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Silent,Missense_A68S rs12123953 1 78515147 [T/C] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs1855704 1 78518668 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs4245660 1 78540733 [T/C] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent variant.4390 1 78546375 [T/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Nonsense_L12X,Nonsense_L86X indel.4391 1 78546380 [I/D] NM_001304725,NM_017655 GIPC2,GIPC2 EXON exm70211 1 78546462 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Missense_E41G,Missense_E115G exm70214 1 78546500 [C/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Missense_G54R,Missense_G128R rs630640 1 78557608 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent indel.4393 1 78560780 [I/D] NM_001304725,NM_017655 GIPC2,GIPC2 EXON exm2264862 1 78574129 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs6666954 1 78578177 [T/C] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs540742 1 78585086 [T/C] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Missense_L132P,Missense_L206P exm70227 1 78585086 [T/C] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Missense_L132P,Missense_L206P newrs140087680 1 78585115 [T/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Nonsense_E142X,Nonsense_E216X variant.4397 1 78585188 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs573952 1 78590204 [A/C] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs12758374 1 78590255 [A/C] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent var_1_78601390 1 78601390 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Nonsense_W230X,Nonsense_W304X exm70240 1 78601390 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Nonsense_W230X,Nonsense_W304X rs661136 1 78603383 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Silent,Silent rs554298 1 78604614 [A/G] rs586300 1 78607268 [T/G] exm-rs17391694 1 78623626 [T/C] rs7555504 1 78629908 [T/G] rs11799753 1 78634053 [T/C] rs689374 1 78639244 [T/C] rs17101475 1 78643674 [T/C] rs683097 1 78666990 [T/G] rs669764 1 78691660 [T/C] rs2181453 1 78696522 [T/C] NR_027310 MGC27382 Silent rs942100 1 78699394 [A/G] NR_027310 MGC27382 Silent rs12409525 1 78708393 [T/C] NR_027310 MGC27382 Silent rs644224 1 78714497 [T/C] NR_027310 MGC27382 Silent rs6656584 1 78721238 [A/G] NR_027310 MGC27382 Silent rs6685021 1 78742185 [T/C] NR_027310 MGC27382 Silent rs1952363 1 78743308 [A/G] NR_027310 MGC27382 Silent rs6424762 1 78749908 [A/C] NR_027310 MGC27382 Silent rs12144203 1 78756602 [A/C] NR_027310 MGC27382 Silent rs11162451 1 78760605 [A/C] NR_027310 MGC27382 Silent rs720887 1 78766380 [A/C] NR_027310 MGC27382 Silent rs11162456 1 78772046 [A/G] NR_027310 MGC27382 Silent rs11162463 1 78781923 [A/G] NR_027310 MGC27382 Silent rs2352037 1 78790740 [A/C] NR_027310 MGC27382 Silent rs1328441 1 78797784 [T/C] NR_027310 MGC27382 Silent rs12063386 1 78800843 [T/G] NR_027310 MGC27382 Silent rs2352039 1 78819945 [T/G] NR_027310 MGC27382 Silent rs10873978 1 78821497 [T/C] NR_027310 MGC27382 Silent rs538855 1 78873062 [T/C] rs648425 1 78887208 [T/C] rs674345 1 78894934 [T/C] rs6678699 1 78934451 [A/C] rs6692239 1 78937828 [T/C] rs1412414 1 78938777 [A/G] exm70251 1 78958457 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_V10A,Missense_V10A indel.4400 1 78958518 [I/D] NM_000959,NM_001039585 PTGFR,PTGFR EXON exm2233850 1 78958628 [T/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_L67R,Missense_L67R exm70261 1 78958691 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_A88V,Missense_A88V exm70265 1 78958862 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_T145M,Missense_T145M exm70270 1 78958893 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_M155I,Missense_M155I indel.4401 1 78958911 [D/I] NM_000959,NM_001039585 PTGFR,PTGFR EXON exm70280 1 78959081 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_L218S,Missense_L218S exm70281 1 78959117 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_V230A,Missense_V230A rs1322935 1 78963305 [A/C] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent rs1322934 1 78963437 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent exm70293 1 78963581 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Silent,Missense_G274E exm70294 1 78963587 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Silent,Missense_E276G rs6701594 1 78976570 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent rs33966768 1 78998759 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent rs686262 1 78999367 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent exm70300 1 79002115 [A/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_N275H,Missense_X298Y var_1_79002214 1 79002214 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Nonsense_R308X,Silent exm1908770 1 79002230 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_K313R,Silent exm70307 1 79002304 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_I338V,Silent rs898 1 79003258 [A/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Silent,Silent rs1023253 1 79051869 [T/C] exm2265021 1 79056297 [A/G] rs273238 1 79082772 [A/G] rs1333969 1 79090654 [T/C] NM_006820 IFI44L Silent variant.4406 1 79093705 [T/C] NM_006820 IFI44L EXON Synonymous_G35G exm70317 1 79093737 [A/G] NM_006820 IFI44L EXON Missense_R46H exm70318 1 79093776 [A/G] NM_006820 IFI44L EXON Missense_N59S exm70319 1 79093781 [A/G] NM_006820 IFI44L EXON Missense_I61V exm70323 1 79093818 [A/G] NM_006820 IFI44L EXON Missense_H73R exm70324 1 79093821 [A/G] NM_006820 IFI44L EXON Missense_E74G exm2233852 1 79093842 [T/A] NM_006820 IFI44L EXON Missense_D81V exm70327 1 79093910 [A/G] NM_006820 IFI44L EXON Missense_A104T exm70332 1 79093956 [T/C] NM_006820 IFI44L EXON Missense_T119M exm70336 1 79094042 [T/C] NM_006820 IFI44L EXON Missense_R148C newrs147126504 1 79094069 [T/C] NM_006820 IFI44L EXON Nonsense_R157X exm70338 1 79094079 [T/G] NM_006820 IFI44L Silent variant.4409 1 79095404 [A/G] NM_006820 IFI44L Silent exm70348 1 79095439 [T/C] NM_006820 IFI44L EXON Missense_Y188H exm70355 1 79095526 [A/G] NM_006820 IFI44L EXON Missense_V217I exm70358 1 79095565 [A/G] NM_006820 IFI44L EXON Missense_V230I exm70359 1 79095572 [A/G] NM_006820 IFI44L EXON Missense_G232E exm70360 1 79095581 [T/C] NM_006820 IFI44L EXON Missense_I235T exm70368 1 79101115 [A/G] NM_006820 IFI44L EXON Missense_G273R exm70369 1 79101116 [T/G] NM_006820 IFI44L EXON Missense_G273V exm70370 1 79101124 [A/G] NM_006820 IFI44L EXON Missense_M276V exm70372 1 79101171 [A/T] NM_006820 IFI44L EXON Nonsense_Y291X exm70376 1 79102726 [T/C] NM_006820 IFI44L EXON Missense_R296C exm70377 1 79102727 [A/G] NM_006820 IFI44L EXON Missense_R296H exm70378 1 79102844 [A/T] NM_006820 IFI44L EXON Missense_M335K exm70380 1 79106745 [A/G] NM_006820 IFI44L EXON Missense_C363Y exm70381 1 79106805 [A/G] NM_006820 IFI44L EXON Missense_R383Q variant.4412 1 79106811 [A/G] NM_006820 IFI44L Silent exm70383 1 79107140 [T/G] NM_006820 IFI44L EXON Missense_M390I indel.4415 1 79107461 [I/D] NM_006820 IFI44L EXON rs10493610 1 79114494 [T/C] rs273250 1 79115306 [T/C] exm70399 1 79115897 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_R6H exm70400 1 79115905 [T/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_W9R indel.4416 1 79115915 [I/D] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON newrs142697926 1 79115926 [T/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Nonsense_Q16X exm70408 1 79115987 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_R36H exm70415 1 79116158 [T/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_G93V exm70416 1 79116169 [T/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_P97S exm70422 1 79116304 [T/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_S142A variant.4418 1 79116338 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 Silent,Silent,Silent exm70434 1 79120788 [T/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_I195T indel.4419 1 79120807 [D/I] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON indel.4420 1 79120856 [I/D] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON newrs141575882 1 79121045 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 Silent,Silent,Silent exm70445 1 79121048 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_Y231C exm70447 1 79121071 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_G239R variant.4422 1 79121131 [T/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Nonsense_E259X rs7514391 1 79123094 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 Silent,Silent,Silent exm70459 1 79125064 [T/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_R303I exm70462 1 79125148 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_R331Q exm70463 1 79125154 [A/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_E333A indel.4424 1 79126291 [I/D] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON newrs141520096 1 79126339 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Synonymous_K371K exm70472 1 79128419 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_A382T variant.4426 1 79128458 [T/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Nonsense_E395X exm70475 1 79128488 [G/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_L405V exm70478 1 79128528 [A/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_D418A exm70481 1 79128557 [A/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_Q428K rs6669498 1 79131805 [T/C] rs6691836 1 79143192 [T/C] rs11162526 1 79144319 [T/C] rs1926902 1 79171286 [T/G] rs1780748 1 79181290 [T/C] rs1780746 1 79182561 [A/G] rs1751520 1 79188388 [A/G] rs4551552 1 79195469 [A/G] rs1751527 1 79202300 [T/C] rs1751529 1 79214489 [A/G] rs1625911 1 79215225 [A/G] rs1926896 1 79217345 [T/C] rs1937020 1 79227956 [T/C] rs7521977 1 79233493 [T/C] rs4650608 1 79238015 [T/C] rs12730292 1 79254762 [G/C] rs1937009 1 79255347 [A/G] rs10873998 1 79263805 [T/C] rs6676466 1 79274028 [A/G] rs12406640 1 79274644 [T/G] rs4650610 1 79281968 [A/G] rs1937019 1 79282661 [T/C] exm2268710 1 79299411 [T/C] rs6695185 1 79299411 [T/C] rs4650380 1 79299679 [A/G] rs2171714 1 79330525 [A/G] rs3012079 1 79336164 [T/C] rs2996691 1 79336607 [T/G] rs931413 1 79348506 [A/C] rs12037077 1 79350364 [T/G] rs1261980 1 79353655 [A/G] exm70490 1 79357360 [G/C] NM_022159 ADGRL4 EXON Missense_A620G exm70492 1 79358811 [A/G] NM_022159 ADGRL4 EXON Missense_P605S exm70494 1 79358827 [T/G] NM_022159 ADGRL4 EXON Missense_H599Q rs7552978 1 79380466 [A/G] NM_022159 ADGRL4 Silent rs1489400 1 79382009 [A/C] NM_022159 ADGRL4 Silent rs977915 1 79382535 [T/C] NM_022159 ADGRL4 Silent exm70503 1 79383554 [A/G] NM_022159 ADGRL4 EXON Missense_S548L exm70507 1 79383604 [A/C] NM_022159 ADGRL4 EXON Missense_K531N exm70515 1 79385958 [T/G] NM_022159 ADGRL4 EXON Missense_S457R exm70516 1 79385972 [T/G] NM_022159 ADGRL4 EXON Missense_S453R exm70519 1 79386047 [T/C] NM_022159 ADGRL4 EXON Missense_T428A exm70520 1 79387320 [A/C] NM_022159 ADGRL4 EXON Missense_L412W exm70521 1 79387350 [T/C] NM_022159 ADGRL4 EXON Missense_R402H exm70525 1 79387410 [T/C] NM_022159 ADGRL4 EXON Missense_G382D var_1_79392576 1 79392576 [A/G] NM_022159 ADGRL4 EXON Nonsense_R360X exm70530 1 79392731 [A/G] NM_022159 ADGRL4 EXON Missense_L308S rs12754818 1 79392756 [A/C] NM_022159 ADGRL4 EXON Missense_V300L exm70533 1 79392756 [A/C] NM_022159 ADGRL4 EXON Missense_V300L exm70541 1 79402069 [T/C] NM_022159 ADGRL4 EXON Missense_Y263C exm70547 1 79403660 [T/C] NM_022159 ADGRL4 EXON Missense_V198M variant.4433 1 79403780 [T/C] NM_022159 ADGRL4 Silent exm70550 1 79403796 [A/G] NM_022159 ADGRL4 EXON Missense_S189P exm70559 1 79404913 [T/G] NM_022159 ADGRL4 EXON Missense_N119T rs723898 1 79411888 [T/C] NM_022159 ADGRL4 Silent exm70562 1 79411968 [A/C] NM_022159 ADGRL4 EXON Missense_V106F exm70564 1 79412096 [T/C] NM_022159 ADGRL4 EXON Missense_G63E rs1489391 1 79419229 [T/C] NM_022159 ADGRL4 Silent rs17413911 1 79419439 [T/C] NM_022159 ADGRL4 Silent rs7534310 1 79439662 [T/G] NM_022159 ADGRL4 Silent rs7527803 1 79451015 [A/G] NM_022159 ADGRL4 Silent rs6685355 1 79458347 [A/C] NM_022159 ADGRL4 Silent exm70566 1 79470788 [T/C] NM_022159 ADGRL4 EXON Missense_G47R rs1571991 1 79471959 [T/G] NM_022159 ADGRL4 Silent rs2065486 1 79482417 [A/G] rs12406049 1 79484287 [A/G] rs6424626 1 79487080 [T/C] rs6691975 1 79490302 [A/C] rs1831704 1 79501129 [A/G] rs1332819 1 79507828 [T/C] rs6687262 1 79509109 [T/C] rs1906281 1 79539394 [A/G] rs1571993 1 79549699 [T/C] rs12760876 1 79550278 [A/C] rs10874010 1 79552777 [A/G] rs11808377 1 79555869 [A/G] rs7531214 1 79556037 [T/C] rs6424633 1 79566969 [A/G] rs12097617 1 79571617 [A/G] rs10874016 1 79580281 [T/C] rs17408603 1 79587385 [A/C] exm2264863 1 79591801 [A/G] rs17102812 1 79593296 [T/C] rs17102821 1 79595821 [T/C] rs2046623 1 79610214 [T/C] rs1555385 1 79614989 [T/G] rs228563 1 79646219 [A/C] rs10489655 1 79653433 [A/C] rs5008836 1 79658861 [A/G] kgp10712530 1 79659418 [T/C] rs228535 1 79666153 [A/C] rs10489653 1 79673001 [A/G] rs7529406 1 79682535 [A/C] exm2265022 1 79709724 [A/G] rs417181 1 79710545 [A/G] rs6674681 1 79721123 [T/C] rs7520601 1 79728427 [T/C] rs10158555 1 79729175 [A/G] rs17103022 1 79733549 [T/C] rs7555545 1 79741744 [A/G] rs1412139 1 79770776 [A/G] rs1412136 1 79775411 [T/C] rs6666584 1 79826759 [A/G] rs3015050 1 79853766 [T/C] rs3000156 1 79856086 [T/C] rs6665036 1 79866210 [T/G] rs3000182 1 79887916 [A/G] rs3015119 1 79896187 [A/G] rs7516261 1 79928591 [A/G] rs2934871 1 79970061 [T/C] rs17103311 1 79973439 [A/G] rs2172794 1 79997655 [T/G] rs958261 1 80014353 [T/C] rs1587076 1 80025255 [A/C] rs1603130 1 80026228 [A/G] rs6424661 1 80052033 [A/G] rs10465721 1 80069082 [T/C] rs1339784 1 80072305 [A/G] rs7534346 1 80084647 [T/G] rs12138392 1 80098006 [T/C] rs10493653 1 80115793 [A/C] rs11162772 1 80116138 [A/G] rs6662701 1 80126241 [A/G] exm-rs7533906 1 80134123 [T/C] rs11162780 1 80135445 [T/C] rs6681417 1 80147123 [A/G] exm2268711 1 80148857 [T/G] rs11162785 1 80148857 [T/G] rs989580 1 80155982 [T/C] rs7539480 1 80171368 [T/C] rs12144677 1 80172400 [A/G] rs6699172 1 80196238 [A/G] rs2103119 1 80197572 [T/C] rs1404064 1 80203708 [A/G] rs2037617 1 80217533 [T/C] rs1464732 1 80220979 [A/C] rs11162813 1 80226884 [A/G] rs3927739 1 80233281 [T/C] exm-rs12022561 1 80235819 [T/C] rs12022561 1 80235819 [T/C] rs5008948 1 80239398 [T/C] rs12023389 1 80242598 [A/G] exm-rs12024204 1 80243001 [A/G] rs10782700 1 80248034 [T/C] rs17458029 1 80251768 [T/C] rs1949779 1 80255867 [T/C] rs1568764 1 80258075 [A/G] rs1880268 1 80269886 [A/G] rs10874076 1 80270261 [A/G] rs12744944 1 80278733 [A/G] rs10874077 1 80279906 [A/C] rs11162830 1 80289838 [T/G] rs12125467 1 80297950 [T/C] rs12025436 1 80305984 [A/G] rs12059430 1 80312051 [A/G] rs11162840 1 80316225 [T/C] rs10874095 1 80329280 [T/C] rs1370722 1 80338715 [A/G] rs4576621 1 80341071 [T/C] rs10874098 1 80367960 [A/C] rs912759 1 80369902 [T/C] rs7547365 1 80377618 [T/G] exm2264864 1 80386090 [A/G] rs159665 1 80403167 [T/C] rs12085600 1 80416562 [A/G] rs7524563 1 80416987 [T/G] rs10493634 1 80442475 [T/C] rs11162883 1 80451812 [A/C] rs10874105 1 80452152 [A/G] rs1010470 1 80454235 [A/G] rs10493632 1 80454869 [T/C] rs17104213 1 80455734 [A/G] rs10493631 1 80477880 [T/C] rs6677996 1 80498496 [A/G] rs2184613 1 80503523 [T/C] rs6424682 1 80514544 [T/G] rs6699236 1 80514706 [T/C] rs6657785 1 80517224 [A/G] rs12038492 1 80522918 [A/C] rs1999727 1 80523448 [A/C] rs1029200 1 80529386 [A/C] rs12140474 1 80534444 [T/C] rs7545328 1 80547435 [T/G] rs4618922 1 80563300 [A/G] rs7548641 1 80563570 [T/C] rs4454493 1 80567175 [T/C] rs11162927 1 80584740 [A/G] rs4384179 1 80586993 [A/G] rs12407709 1 80589739 [T/C] rs4330881 1 80631231 [A/G] rs10874118 1 80638947 [A/G] rs4503307 1 80641525 [T/C] rs7521092 1 80644813 [A/C] rs4310401 1 80656114 [A/G] rs4375210 1 80659876 [T/C] rs10782722 1 80662898 [A/G] rs952603 1 80683606 [A/G] rs1687846 1 80685710 [T/C] rs2211432 1 80694377 [T/C] rs1776325 1 80703306 [A/G] rs11162962 1 80717516 [T/C] rs12563768 1 80719769 [A/G] rs1539486 1 80722041 [A/G] rs11162963 1 80734581 [T/C] rs7529438 1 80735096 [A/G] rs1776286 1 80741898 [A/C] rs12144659 1 80744080 [T/C] rs17104602 1 80758961 [A/G] rs1937791 1 80770605 [T/C] rs2154298 1 80791787 [A/G] rs12065553 1 80793118 [A/G] rs2389024 1 80805845 [T/C] rs12118987 1 80818530 [T/C] rs3014987 1 80823037 [T/C] rs10158964 1 80825083 [T/G] rs2997195 1 80838880 [T/C] rs1937787 1 80839278 [T/C] rs17104735 1 80846304 [T/C] rs12563780 1 80854470 [T/C] rs1549555 1 80858466 [A/G] rs6680065 1 80869734 [T/C] rs17390593 1 80876340 [A/C] rs4650458 1 80881727 [A/G] rs1427239 1 80892408 [T/C] rs12118390 1 80911114 [A/G] rs1365750 1 80929598 [A/G] rs1155549 1 80944604 [A/G] rs4650467 1 80953659 [T/C] rs718003 1 80956319 [T/C] rs17104891 1 80965281 [A/G] rs184812 1 80970978 [A/G] rs1593679 1 80977160 [T/G] rs356287 1 80977963 [A/G] rs17104916 1 80985935 [A/C] rs12031162 1 80989370 [T/G] rs356295 1 80993368 [A/C] rs12070796 1 80997745 [A/G] rs11163045 1 81004543 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs2389057 1 81027980 [A/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs10874140 1 81028590 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs11163055 1 81038969 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs10874145 1 81059253 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs1279686 1 81070850 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs1279688 1 81071433 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs7552365 1 81087175 [A/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs2800878 1 81090382 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs17105153 1 81096254 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs17105223 1 81120474 [T/G] rs1279690 1 81130054 [T/C] rs17105288 1 81137243 [A/G] rs12035797 1 81137567 [T/G] rs6688321 1 81140382 [A/G] rs10493675 1 81143121 [A/G] rs6698422 1 81156483 [T/C] rs841668 1 81159163 [T/C] rs1832331 1 81161337 [T/C] rs1337642 1 81164242 [T/C] rs1591678 1 81176850 [A/G] rs841666 1 81177525 [T/C] rs11163090 1 81181741 [T/C] rs2152856 1 81188002 [T/C] rs1337638 1 81195339 [T/C] rs12566647 1 81202219 [A/G] rs1539362 1 81209339 [A/G] rs6660382 1 81222277 [A/G] rs11163106 1 81227145 [T/C] rs12120655 1 81232434 [T/G] rs945867 1 81235436 [A/G] rs2147085 1 81259137 [A/G] rs10874175 1 81282234 [T/C] rs17105538 1 81315043 [A/G] rs10874177 1 81316894 [T/C] rs4650353 1 81329765 [A/G] rs17105542 1 81336283 [T/G] rs6659760 1 81345264 [A/G] rs4650491 1 81352249 [T/G] rs17403444 1 81359010 [A/G] rs4650355 1 81376282 [T/C] rs1338128 1 81378292 [A/G] rs1338127 1 81384148 [T/C] rs1933329 1 81386389 [A/G] rs1339118 1 81391273 [T/C] rs1338137 1 81392951 [T/G] rs10874182 1 81401098 [T/C] rs4307601 1 81411025 [A/G] rs11163165 1 81427862 [T/C] rs6694777 1 81436522 [T/G] rs4077887 1 81447213 [A/G] rs1863618 1 81450244 [A/G] rs10874192 1 81452990 [A/G] rs12041774 1 81482945 [T/C] rs1426782 1 81516862 [A/G] rs1195764 1 81518295 [A/G] rs1426783 1 81518782 [A/C] rs11583080 1 81530739 [T/C] rs10782747 1 81536949 [T/C] rs672797 1 81560554 [A/C] rs575528 1 81563249 [A/G] rs1768400 1 81591135 [A/G] rs1752212 1 81592966 [A/G] rs17406922 1 81593406 [A/G] rs1146413 1 81599140 [A/G] rs17106044 1 81610300 [T/C] rs1327712 1 81614826 [A/C] rs1195685 1 81617971 [A/G] rs3908548 1 81633378 [A/G] rs1831109 1 81639173 [T/C] rs12565210 1 81661538 [A/G] rs2225966 1 81668315 [T/G] rs17106149 1 81671841 [T/C] rs7553222 1 81677398 [A/G] rs1195866 1 81678254 [T/C] rs11163216 1 81702178 [A/G] rs17106264 1 81706429 [T/C] rs1557020 1 81739593 [A/G] rs2031773 1 81741715 [T/G] rs7551904 1 81746732 [T/C] rs17417493 1 81749474 [T/C] rs10735763 1 81756972 [A/C] rs12026119 1 81759170 [A/G] rs6683338 1 81766935 [A/C] rs1998981 1 81770597 [T/C] rs12137941 1 81778651 [A/C] rs17452799 1 81780540 [A/G] rs4650366 1 81791213 [A/G] rs4362025 1 81796081 [T/G] rs11163254 1 81803379 [T/C] rs1327600 1 81804154 [A/G] exm2268712 1 81807097 [T/C] rs7534535 1 81820712 [T/C] rs4512695 1 81828029 [T/C] rs4526653 1 81831533 [A/C] rs11163267 1 81843506 [T/C] rs4561073 1 81866112 [T/G] exm2260736 1 81867479 [T/C] rs7546194 1 81870764 [A/G] rs11808193 1 81873869 [A/G] rs11163281 1 81876723 [A/C] rs6681688 1 81881212 [T/C] rs12722932 1 81885380 [T/C] rs10874241 1 81888605 [A/G] rs10874242 1 81891851 [T/C] rs12120776 1 81899506 [A/G] rs4520454 1 81901137 [T/C] rs4390217 1 81911370 [A/G] rs11163296 1 81911989 [T/C] rs4420124 1 81924106 [T/C] rs11586668 1 81941270 [A/G] rs11163302 1 81943906 [A/G] rs11163306 1 81947398 [T/G] rs12142040 1 81949079 [A/G] rs4650559 1 81951500 [T/C] rs1535881 1 81983650 [A/G] NR_125943 LOC101927434 Silent rs1408426 1 81984158 [T/C] NR_125943 LOC101927434 Silent rs11806028 1 81995870 [A/G] NR_125943 LOC101927434 Silent rs17106647 1 81998027 [T/C] NR_125943 LOC101927434 Silent rs17454780 1 82001469 [A/G] NR_125943 LOC101927434 Silent rs7527341 1 82009424 [T/C] NR_125943 LOC101927434 Silent rs7544613 1 82015752 [A/G] NR_125943 LOC101927434 Silent rs12022306 1 82026353 [A/G] rs10493695 1 82053387 [T/C] rs10874255 1 82054524 [A/C] rs12717771 1 82064696 [A/G] rs4317851 1 82066625 [A/G] rs17106815 1 82074342 [A/C] rs11809789 1 82074852 [A/G] rs1924651 1 82078790 [A/G] rs7523717 1 82087412 [T/C] rs17106847 1 82096075 [T/C] rs10493696 1 82102924 [A/G] rs571361 1 82126526 [A/G] rs9324178 1 82127429 [T/C] rs627084 1 82138740 [A/G] rs489438 1 82143805 [T/C] rs11163349 1 82148070 [A/G] rs645997 1 82156682 [A/G] rs660851 1 82162001 [A/G] rs9662349 1 82178052 [A/G] NM_001297704 ADGRL2 Silent rs9728534 1 82181580 [T/C] NM_001297704 ADGRL2 Silent rs9660481 1 82181963 [A/C] NM_001297704 ADGRL2 Silent rs9724784 1 82184463 [A/G] NM_001297704 ADGRL2 Silent rs9659808 1 82199372 [T/C] NM_001297704 ADGRL2 Silent rs12090448 1 82203562 [A/G] NM_001297704 ADGRL2 Silent rs9729825 1 82215080 [A/G] NM_001297704 ADGRL2 Silent rs9324187 1 82225803 [T/G] NM_001297704 ADGRL2 Silent rs10874266 1 82228427 [T/C] NM_001297704 ADGRL2 Silent rs12072054 1 82243083 [A/G] NM_001297704 ADGRL2 Silent rs11163371 1 82244575 [T/G] NM_001297704 ADGRL2 Silent rs1498212 1 82246392 [A/G] NM_001297704 ADGRL2 Silent rs11163372 1 82247248 [T/C] NM_001297704 ADGRL2 Silent rs3748770 1 82265905 [A/G] NM_001297704 ADGRL2 Silent rs1341259 1 82271766 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12059795 1 82278453 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6677062 1 82295530 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs754054 1 82299571 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12064537 1 82302600 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm70571 1 82302677 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_S3F,Missense_S3F,Missense_S3F,Missense_S3F,Missense_S3F,Missense_S3F,Missense_S3F exm70573 1 82302695 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_R9Q,Missense_R9Q,Missense_R9Q,Missense_R9Q,Missense_R9Q,Missense_R9Q,Missense_R9Q rs3790952 1 82304384 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11163391 1 82317489 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3790927 1 82339237 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs638113 1 82362195 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2026596 1 82364673 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs654654 1 82368812 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm70579 1 82372803 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_I59V,Missense_I59V,Missense_I59V,Missense_I59V,Missense_I59V,Missense_I59V,Missense_I59V rs12758555 1 82387711 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs993099 1 82388902 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2201163 1 82389289 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent newrs139190382 1 82402521 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_I133V,Missense_I133V,Missense_I133V,Missense_I133V,Missense_I133V,Missense_I133V,Missense_M133V rs386783 1 82402790 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm70592 1 82409174 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_D307N,Missense_D307N,Missense_D307N,Missense_D307N,Missense_D307N,Missense_D307N,Missense_D311N exm2253369 1 82409269 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Synonymous_N338N,Synonymous_N338N,Synonymous_N338N,Synonymous_N338N,Synonymous_N338N,Synonymous_N338N,Synonymous_N342N exm70597 1 82409337 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_Q361R,Missense_Q361R,Missense_Q361R,Missense_Q361R,Missense_Q361R,Missense_Q361R,Missense_Q365R exm70598 1 82409352 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A370V variant.4437 1 82409458 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2172285 1 82411874 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11163396 1 82413263 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm70607 1 82416040 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_P456S,Missense_P456S,Missense_P456S,Missense_P456S,Missense_P456S,Missense_P456S,Missense_P460S exm70608 1 82416046 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_I458V,Missense_I458V,Missense_I458V,Missense_I458V,Missense_I458V,Missense_I458V,Missense_I462V exm70618 1 82417696 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_K551R,Missense_K551R,Missense_K551R,Missense_K551R,Missense_K551R,Missense_K551R,Missense_K555R exm70632 1 82421742 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_I655T,Missense_I655T,Missense_I655T,Missense_I655T,Missense_I668T,Missense_I655T,Missense_I672T exm70633 1 82431756 [T/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_V661L,Missense_V661L,Missense_V661L,Missense_V661L,Missense_V674L,Missense_V661L,Missense_V678L variant.4439 1 82431872 [T/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm70642 1 82432184 [T/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_R730L,Missense_R730L,Missense_R730L,Missense_R730L,Missense_R743L,Missense_R730L,Missense_R747L exm70648 1 82433819 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_R803Q,Missense_R803Q,Missense_R803Q,Missense_R803Q,Missense_R816Q,Missense_R803Q,Missense_R820Q exm70653 1 82434874 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_V829I,Missense_V829I,Missense_V829I,Missense_V829I,Missense_V842I,Missense_V829I,Missense_V846I exm2253371 1 82434945 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Synonymous_C852C,Synonymous_C852C,Synonymous_C852C,Synonymous_C852C,Synonymous_C865C,Synonymous_C852C,Synonymous_C869C exm70660 1 82435036 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_I883V,Missense_I883V,Missense_I883V,Missense_I883V,Missense_I896V,Missense_I883V,Missense_I900V rs1327022 1 82436281 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm70670 1 82437536 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Synonymous_A968A,Synonymous_A968A,Synonymous_A968A,Synonymous_A968A,Synonymous_A981A,Synonymous_A968A,Synonymous_A985A variant.4441 1 82446523 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent var_1_82446525 1 82446525 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12130650 1 82447191 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1154816 1 82450194 [A/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm70685 1 82450382 [A/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_S1116Y,Missense_S1116Y,Missense_S1116Y,Missense_S1116Y,Missense_S1129Y,Missense_S1116Y,Missense_S1133Y exm70699 1 82456107 [C/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_A1164P,Silent,Missense_A1164P,Silent,Missense_A1177P,Silent,Missense_A1224P exm70705 1 82456165 [T/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_G1183V,Silent,Missense_G1183V,Silent,Missense_G1196V,Silent,Missense_G1243V exm70706 1 82456182 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_V1189M,Silent,Missense_V1189M,Silent,Missense_V1202M,Silent,Missense_V1249M exm70710 1 82456308 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_V1231I,Silent,Missense_V1231I,Silent,Missense_V1244I,Silent,Missense_V1291I exm70712 1 82456332 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_S1239G,Silent,Missense_S1239G,Silent,Missense_S1252G,Silent,Missense_S1299G exm70713 1 82456341 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_D1242N,Silent,Missense_D1242N,Silent,Missense_D1255N,Silent,Missense_D1302N exm70715 1 82456381 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_S1255N,Silent,Missense_S1255N,Silent,Missense_S1268N,Silent,Missense_S1315N exm70719 1 82456419 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_E1268K,Silent,Missense_E1268K,Silent,Missense_E1281K,Silent,Missense_E1328K exm70721 1 82456432 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_I1272T,Silent,Missense_I1272T,Silent,Missense_I1285T,Silent,Missense_I1332T exm70726 1 82456485 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_E1290K,Silent,Missense_E1290K,Silent,Missense_E1303K,Silent,Missense_E1350K exm70730 1 82456585 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_R1323K,Silent,Missense_R1323K,Silent,Missense_R1336K,Silent,Missense_R1383K exm70731 1 82456599 [C/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_P1328A,Silent,Missense_P1328A,Silent,Missense_P1341A,Silent,Missense_P1388A exm1910906 1 82456716 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_Y1367H,Silent,Missense_Y1367H,Silent,Missense_Y1380H,Silent,Missense_Y1427H rs7412827 1 82462304 [A/G] rs1022974 1 82469609 [A/G] rs12145656 1 82492195 [T/C] rs12135377 1 82506257 [A/C] rs10782773 1 82508628 [T/C] rs7515935 1 82517491 [T/C] rs4609472 1 82541810 [A/G] rs4970666 1 82552067 [T/C] rs12129408 1 82555368 [T/C] rs962249 1 82561559 [T/G] rs12083586 1 82566764 [A/C] rs6687277 1 82575142 [A/G] rs4970675 1 82595241 [T/C] rs6681181 1 82612212 [A/G] rs7514492 1 82653168 [A/C] rs695978 1 82686415 [T/C] rs10493712 1 82690006 [T/C] rs10747391 1 82696502 [A/G] rs4106233 1 82708274 [T/C] rs796800 1 82712113 [T/C] rs785605 1 82723394 [A/G] rs2657551 1 82729907 [A/G] rs785612 1 82744600 [A/G] rs785631 1 82751201 [A/G] rs1770679 1 82764942 [T/C] rs709741 1 82777956 [A/G] rs1857814 1 82787818 [A/G] rs786077 1 82797633 [T/G] rs785643 1 82800233 [A/G] rs785639 1 82801007 [T/C] rs1144283 1 82826465 [A/C] rs17437521 1 82829953 [T/C] rs1281614 1 82843604 [T/G] rs11163467 1 82848122 [T/C] rs1281603 1 82848779 [T/C] rs946831 1 82850151 [T/C] rs1986902 1 82899747 [A/G] rs10437024 1 82901264 [A/C] rs11163476 1 82913726 [T/C] rs3863840 1 82934401 [A/G] rs11163482 1 82939537 [T/C] rs10874312 1 82944571 [A/G] rs2026598 1 82949643 [A/G] rs2225083 1 82960385 [A/G] rs7523716 1 82964864 [T/G] exm2260750 1 82965883 [T/C] rs10489862 1 82969372 [A/G] rs2209696 1 82987838 [T/C] rs318405 1 83014374 [A/G] rs318422 1 83019476 [A/G] rs9661164 1 83037900 [A/G] rs12071754 1 83042516 [A/G] rs1690541 1 83046856 [T/C] rs4363415 1 83052634 [T/C] rs954572 1 83057803 [A/G] rs11163513 1 83063455 [T/G] rs6604915 1 83066525 [T/C] rs12086858 1 83070865 [T/C] rs2389318 1 83076962 [T/C] rs950269 1 83077523 [A/G] rs10493720 1 83078971 [T/C] rs1493977 1 83083251 [A/G] rs11163523 1 83096252 [A/G] rs6660986 1 83097971 [A/G] rs6604921 1 83098959 [T/C] rs11163533 1 83106539 [A/G] rs4662154 1 83107700 [A/G] rs1577991 1 83111268 [A/G] rs409599 1 83112606 [T/C] rs2787985 1 83118044 [T/G] rs1766629 1 83120757 [A/G] rs365222 1 83120822 [A/G] rs1433761 1 83132400 [A/C] rs17108829 1 83136135 [A/G] rs984697 1 83144687 [A/G] rs2641944 1 83166637 [T/C] rs11585110 1 83171984 [T/C] rs10493723 1 83172112 [T/C] exm2268714 1 83172671 [T/C] rs389112 1 83172684 [A/G] rs12089552 1 83181179 [T/C] rs320922 1 83205734 [A/C] rs7531603 1 83245723 [A/G] rs7532890 1 83253029 [T/C] rs438697 1 83253132 [A/C] rs7536953 1 83257287 [A/G] rs6429838 1 83262934 [A/G] rs6685504 1 83263047 [T/G] rs6660078 1 83266993 [T/C] rs480745 1 83269970 [A/G] rs563093 1 83284562 [A/G] rs12120783 1 83289913 [T/G] rs11163582 1 83297866 [T/C] rs10782797 1 83298665 [A/G] rs12132310 1 83306575 [A/G] exm-rs11163585 1 83311835 [T/C] rs11163585 1 83311835 [T/C] rs7532665 1 83331118 [A/G] rs988424 1 83339078 [A/G] rs12075853 1 83346145 [T/C] rs7411897 1 83405844 [A/G] NR_147074 LINC01362 Silent rs10782802 1 83447063 [T/G] NR_147074,NR_110632,NR_110633 LINC01362,LINC01361,LINC01361 Silent,Silent,Silent rs10493734 1 83448642 [T/C] NR_147074,NR_110632,NR_110633 LINC01362,LINC01361,LINC01361 Silent,Silent,Silent rs6659184 1 83465396 [T/C] NR_147074 LINC01362 Silent rs2184006 1 83474843 [T/C] NR_147074 LINC01362 Silent rs12732417 1 83482870 [A/G] NR_147074 LINC01362 Silent rs12742923 1 83489844 [T/C] NR_147074 LINC01362 Silent rs11163640 1 83493060 [T/C] NR_147074 LINC01362 Silent rs12132477 1 83520031 [T/C] NR_147074 LINC01362 Silent rs2022015 1 83528240 [A/G] NR_147074 LINC01362 Silent rs6676907 1 83548341 [T/C] NR_147074 LINC01362 Silent rs2389394 1 83552647 [T/C] NR_147074 LINC01362 Silent rs2022623 1 83553657 [A/G] NR_147074 LINC01362 Silent rs12072235 1 83561954 [A/G] NR_147074 LINC01362 Silent rs12127333 1 83562338 [A/G] NR_147074 LINC01362 Silent exm2268715 1 83570271 [T/C] NR_147074 LINC01362 Silent rs537877 1 83572881 [T/G] NR_147074 LINC01362 Silent rs6682943 1 83585592 [A/C] NR_147074 LINC01362 Silent rs323940 1 83587246 [T/C] NR_147074 LINC01362 Silent rs10487982 1 83596112 [T/G] NR_147074 LINC01362 Silent rs6664860 1 83597301 [T/C] NR_147074 LINC01362 Silent rs12039790 1 83633428 [T/C] rs4907184 1 83678942 [A/G] rs6576787 1 83688792 [A/C] rs12403322 1 83701728 [A/G] rs12033542 1 83712453 [T/G] rs3904791 1 83724335 [T/C] kgp25287451 1 83737921 [T/C] rs3861689 1 83785316 [A/G] rs10127548 1 83796651 [T/C] rs1856150 1 83808282 [A/G] rs3956418 1 83829357 [A/G] rs12408136 1 83834902 [T/C] rs12139544 1 83863396 [T/C] rs12038205 1 83897416 [T/C] rs4907141 1 83905111 [T/G] rs35835790 1 83905323 [T/C] rs11163752 1 83934440 [T/C] rs12082801 1 83958040 [T/C] rs12723007 1 83958331 [A/G] rs17503362 1 83959631 [A/G] rs7535867 1 83961744 [T/C] rs6660757 1 83971065 [T/G] rs12568728 1 83987643 [T/C] rs4907144 1 84002236 [A/G] rs977889 1 84012000 [A/G] rs12025304 1 84025460 [A/G] rs11585440 1 84028076 [T/C] rs4243779 1 84032625 [T/C] rs6704084 1 84034548 [A/G] rs12082018 1 84054569 [A/G] NR_119375 LINC01725 Silent rs6661191 1 84057173 [A/G] NR_119375 LINC01725 Silent rs4128486 1 84062434 [A/G] NR_119375 LINC01725 Silent rs4907154 1 84062884 [A/G] NR_119375 LINC01725 Silent rs12563303 1 84094411 [A/G] NR_119375 LINC01725 Silent rs7419078 1 84105145 [A/G] NR_119375 LINC01725 Silent rs8179363 1 84107543 [A/C] NR_119375 LINC01725 Silent rs11163794 1 84111016 [T/C] NR_119375 LINC01725 Silent exm2268906 1 84112571 [T/C] NR_119375 LINC01725 Silent rs4539154 1 84113159 [A/G] NR_119375 LINC01725 Silent rs10782813 1 84116142 [A/G] NR_119375 LINC01725 Silent rs11163798 1 84117891 [T/C] NR_119375 LINC01725 Silent rs12087224 1 84130384 [A/G] NR_119375 LINC01725 Silent rs11485345 1 84134042 [A/G] NR_119375 LINC01725 Silent rs11163801 1 84149799 [T/C] NR_119375 LINC01725 Silent rs6679802 1 84161566 [T/C] NR_119375 LINC01725 Silent rs11163805 1 84168682 [T/C] NR_119375 LINC01725 Silent rs7414950 1 84172930 [A/G] NR_119375 LINC01725 Silent rs6667561 1 84173558 [T/C] NR_119375 LINC01725 Silent rs6689132 1 84181060 [A/G] NR_119375 LINC01725 Silent rs4636482 1 84190263 [A/G] NR_119375 LINC01725 Silent rs9787364 1 84196920 [T/C] NR_119375 LINC01725 Silent rs9787335 1 84197066 [A/G] NR_119375 LINC01725 Silent rs10782817 1 84201658 [T/C] NR_119375 LINC01725 Silent rs17577039 1 84204198 [A/G] NR_119375 LINC01725 Silent rs6691243 1 84216308 [T/C] NR_119375 LINC01725 Silent rs761401 1 84217159 [T/C] NR_119375 LINC01725 Silent rs10874417 1 84220731 [T/C] NR_119375 LINC01725 Silent rs6682282 1 84223416 [A/G] NR_119375 LINC01725 Silent rs17129321 1 84234973 [T/C] NR_119375 LINC01725 Silent rs10489502 1 84236661 [T/C] NR_119375 LINC01725 Silent rs6576943 1 84247430 [A/G] NR_119375 LINC01725 Silent rs11163843 1 84252434 [A/C] NR_119375 LINC01725 Silent exm-rs7552393 1 84254551 [A/G] NR_119375 LINC01725 Silent exm-rs7539409 1 84254735 [A/G] NR_119375 LINC01725 Silent rs6699405 1 84258609 [A/G] NR_119375 LINC01725 Silent rs4140462 1 84269299 [A/G] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs1040576 1 84274266 [T/G] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs12083999 1 84287873 [T/C] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent exm2264866 1 84295861 [A/G] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs970457 1 84296540 [T/C] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs3738575 1 84296983 [A/G] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs1408477 1 84304441 [T/C] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs12144066 1 84332373 [T/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Silent,Silent,Silent exm1913028 1 84348787 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_P801L,Missense_P774L,Missense_P801L exm70749 1 84348801 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_I796M,Missense_I769M,Missense_I796M exm70755 1 84356065 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_V770I,Missense_V743I,Missense_V770I rs1570691 1 84370393 [A/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent exm70765 1 84372134 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_R669W,Missense_R642W,Missense_R669W exm70770 1 84373276 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_R619C,Missense_R592C,Missense_R619C exm70773 1 84373309 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_I608V,Missense_I581V,Missense_I608V exm70775 1 84376849 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Synonymous_P595P,Synonymous_P568P,Synonymous_P595P exm70782 1 84383302 [A/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_K524N,Missense_K497N,Missense_K524N rs1324486 1 84384825 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent exm70816 1 84415626 [T/A] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_D67E,Missense_D40E,Missense_D67E exm70817 1 84415640 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_M63V,Missense_M36V,Missense_M63V rs12757632 1 84416408 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent exm70821 1 84417585 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_K34E,Missense_K7E,Missense_K34E exm70822 1 84417642 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_P15S,Silent,Missense_P15S exm70824 1 84417879 [C/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_Q6E,Silent,Missense_Q6E rs663136 1 84437311 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs10874426 1 84451820 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs12401314 1 84480212 [T/G] rs615352 1 84499003 [T/C] rs670564 1 84514988 [A/G] rs3903924 1 84528434 [T/G] rs11163897 1 84539714 [T/C] rs6701486 1 84550849 [A/G] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs12404263 1 84551736 [A/G] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs7546625 1 84552606 [A/G] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent exm2253446 1 84555908 [T/C] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs2812452 1 84576203 [A/G] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs12057561 1 84584894 [T/C] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs12723299 1 84590315 [T/C] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs6576962 1 84604937 [T/C] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent variant.4448 1 84610102 [T/C] NM_002731,NM_207578,NM_182948,NM_001300916 PRKACB,PRKACB,PRKACB,PRKACB EXON Silent,Silent,Nonsense_Q20X,Nonsense_Q20X rs903263 1 84622513 [T/G] NM_002731,NM_207578,NM_182948,NM_001300916 PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent rs12077806 1 84635101 [T/C] NM_002731,NM_207578,NM_182948,NM_001300916,NM_001300917,NM_001242857,NM_001242858,NM_001242859,NM_001300915,NM_001242861,NM_001242860 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7547892 1 84658591 [A/G] NM_002731,NM_207578,NM_182948,NM_001300916,NM_001300917,NM_001242857,NM_001242858,NM_001242859,NM_001300915,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm70843 1 84662335 [A/G] NM_002731,NM_207578,NM_182948,NM_001300916,NM_001300917,NM_001242857,NM_001242858,NM_001242859,NM_001300915,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB EXON Synonymous_V152V,Synonymous_V152V,Synonymous_V199V,Synonymous_V199V,Synonymous_V140V,Synonymous_V159V,Synonymous_V140V,Synonymous_V156V,Synonymous_V158V,Synonymous_V122V,Synonymous_V158V,Synonymous_V139V exm2253450 1 84662335 [A/G] NM_002731,NM_207578,NM_182948,NM_001300916,NM_001300917,NM_001242857,NM_001242858,NM_001242859,NM_001300915,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB EXON Synonymous_V152V,Synonymous_V152V,Synonymous_V199V,Synonymous_V199V,Synonymous_V140V,Synonymous_V159V,Synonymous_V140V,Synonymous_V156V,Synonymous_V158V,Synonymous_V122V,Synonymous_V158V,Synonymous_V139V exm70852 1 84679969 [T/C] NM_002731,NM_182948,NM_001242857,NM_001242858,NM_001242859,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB EXON Missense_T300M,Missense_T347M,Missense_T307M,Missense_T288M,Missense_T304M,Missense_T270M,Missense_T306M,Missense_T287M rs970318 1 84682179 [A/G] NM_002731,NM_182948,NM_001242857,NM_001242858,NM_001242859,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11163923 1 84700766 [T/C] NM_002731,NM_182948,NM_001242857,NM_001242858,NM_001242859,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs787858 1 84705481 [A/C] rs12567002 1 84708602 [T/G] rs605969 1 84720173 [A/G] rs4907047 1 84720776 [A/G] rs634904 1 84722102 [A/G] rs583720 1 84722166 [A/G] rs316686 1 84735710 [A/G] rs11163939 1 84759423 [T/C] rs813056 1 84760218 [A/C] rs784833 1 84761174 [A/G] exm-rs1085093 1 84761348 [T/C] exm70869 1 84764249 [A/G] NM_001010971 SAMD13 EXON Synonymous_G3G exm70876 1 84768912 [T/C] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 EXON Missense_L13F,Silent,Silent rs315552 1 84795283 [T/G] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 Silent,Silent,Silent indel.4450 1 84815430 [I/D] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 EXON rs642774 1 84843465 [T/C] NR_003927 UOX Silent rs576888 1 84853611 [A/C] rs3738573 1 84864256 [G/C] NM_021233 DNASE2B EXON Missense_Q3H exm70895 1 84864256 [G/C] NM_021233 DNASE2B EXON Missense_Q3H var_1_84864377 1 84864377 [A/G] NM_021233 DNASE2B Silent rs12144715 1 84865230 [A/T] NM_021233 DNASE2B Silent rs1246386 1 84867148 [T/G] NM_021233 DNASE2B Silent indel.4452 1 84867621 [I/D] NM_021233 DNASE2B EXON exm70908 1 84867741 [T/C] NM_021233 DNASE2B EXON Missense_Y95H exm70909 1 84867754 [C/G] NM_021233 DNASE2B EXON Missense_A99G rs507772 1 84871923 [A/G] NM_021233 DNASE2B Silent indel.4454 1 84874130 [D/I] NM_021233,NM_058248 DNASE2B,DNASE2B EXON exm70911 1 84874162 [T/A] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Nonsense_K116X,Silent variant.4456 1 84876533 [A/G] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Nonsense_W133X,Silent exm70918 1 84876560 [T/G] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Missense_I142S,Silent variant.4457 1 84876625 [T/C] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Nonsense_R164X,Silent exm70925 1 84876680 [T/C] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Missense_I182T,Silent rs7511984 1 84878228 [T/C] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Synonymous_D248D,Synonymous_D40D variant.4458 1 84878229 [A/G] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Missense_D249N,Missense_D41N exm70930 1 84880273 [T/C] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Nonsense_R270X,Nonsense_R62X exm70936 1 84880427 [A/G] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Missense_C321Y,Missense_C113Y rs7512262 1 84896062 [A/G] rs959363 1 84898321 [A/C] rs6677436 1 84915300 [T/C] rs2066197 1 84917707 [A/G] rs12729133 1 84922553 [T/C] exm70941 1 84944975 [T/C] NM_025065 RPF1 EXON Missense_A4V exm70942 1 84944978 [A/G] NM_025065 RPF1 EXON Missense_G5E rs2292191 1 84944989 [A/G] NM_025065 RPF1 EXON Missense_S9G exm70950 1 84945034 [A/G] NM_025065 RPF1 EXON Missense_E24K exm70953 1 84945097 [C/G] NM_025065 RPF1 EXON Missense_A45P exm70958 1 84945179 [A/G] NM_025065 RPF1 EXON Missense_Q72R rs4907076 1 84947055 [A/G] NM_025065 RPF1 Silent exm70961 1 84948653 [A/C] NM_025065 RPF1 EXON Missense_T114N newrs143563141 1 84948676 [T/G] NM_025065 RPF1 EXON Nonsense_E122X indel.4462 1 84948694 [I/D] NM_025065 RPF1 rs11163981 1 84953415 [A/G] NM_025065 RPF1 Silent rs11163983 1 84955233 [T/C] NM_025065 RPF1 Silent exm70967 1 84956035 [A/G] NM_025065 RPF1 EXON Missense_V166I exm70969 1 84956143 [T/C] NM_025065 RPF1 EXON Missense_R202C exm70970 1 84956144 [A/G] NM_025065 RPF1 EXON Missense_R202H rs7524576 1 84959734 [A/G] NM_025065 RPF1 Silent exm70975 1 84961108 [A/G] NM_025065 RPF1 EXON Missense_M223I rs7528067 1 84961108 [A/G] NM_025065 RPF1 EXON Missense_M223I exm70976 1 84961119 [A/G] NM_025065 RPF1 EXON Missense_R227H exm70977 1 84961140 [T/C] NM_025065 RPF1 Silent exm70981 1 84961668 [T/C] NM_025065 RPF1 EXON Missense_P268L exm70988 1 84962049 [A/G] NM_025065 RPF1 EXON Missense_H335R exm70991 1 84963142 [T/C] NM_025065 RPF1 EXON Missense_F347L exm1914057 1 84967545 [T/C] NM_005274 GNG5 EXON Missense_V64I variant.4466 1 84982079 [A/G] NM_001310156 SPATA1 Silent rs6698596 1 84996604 [T/C] NM_001310156 SPATA1 Silent rs6576713 1 85003568 [T/C] NM_001310156 SPATA1 Silent rs17111283 1 85014989 [A/G] NM_001310156 SPATA1 Silent rs1043493 1 85020649 [T/C] NM_001310156,NM_004388 SPATA1,CTBS EXON Silent,Silent exm71046 1 85020683 [C/G] NM_001310156,NM_004388 SPATA1,CTBS EXON Silent,Missense_X386S exm71047 1 85020695 [A/G] NM_001310156,NM_004388 SPATA1,CTBS EXON Silent,Missense_L382P indel.4469 1 85020714 [D/I] NM_001310156,NM_004388 SPATA1,CTBS EXON variant.4470 1 85020735 [A/G] NM_001310156,NM_004388 SPATA1,CTBS EXON Silent,Nonsense_Q369X exm71051 1 85020803 [T/C] NM_001310156,NM_004388 SPATA1,CTBS EXON Silent,Missense_Y346C exm71053 1 85028969 [A/C] NM_004388 CTBS EXON Missense_D310Y exm71054 1 85029010 [T/G] NM_004388 CTBS EXON Missense_K296T exm71059 1 85029067 [T/C] NM_004388 CTBS EXON Missense_R277Q exm71060 1 85029068 [A/G] NM_004388 CTBS EXON Missense_R277W exm71061 1 85029077 [T/C] NM_004388 CTBS EXON Missense_V274I exm71062 1 85029085 [A/G] NM_004388 CTBS EXON Missense_I271T exm71063 1 85029100 [T/C] NM_004388 CTBS EXON Missense_D266G exm71066 1 85029489 [A/T] NM_004388 CTBS EXON Missense_I242F rs2994953 1 85031630 [A/G] NM_004388 CTBS EXON Synonymous_I197I exm71079 1 85035634 [T/G] NM_004388 CTBS EXON Missense_R169S exm71083 1 85035754 [A/C] NM_004388 CTBS EXON Missense_L129V exm71085 1 85035772 [T/G] NM_004388 CTBS EXON Missense_I123L exm2233874 1 85035778 [A/C] NM_004388 CTBS EXON Missense_S121A indel.4471 1 85036314 [I/D] NM_004388 CTBS EXON exm2233875 1 85036315 [A/G] NM_004388 CTBS EXON Missense_S89L variant.4472 1 85036404 [T/C] NM_004388 CTBS Silent rs2945152 1 85048641 [T/C] rs2945145 1 85062615 [A/C] rs2911603 1 85070877 [T/C] NR_125761 LINC01461 Silent rs2945133 1 85091557 [T/C] exm71114 1 85113229 [A/G] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_C578R,Missense_C551R,Missense_C551R,Missense_C578R,Missense_C578R rs2994939 1 85114537 [T/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP Silent,Silent,Silent,Silent,Silent exm71121 1 85116142 [G/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_G525R,Missense_G498R,Missense_G498R,Missense_G525R,Missense_G525R exm2233876 1 85116153 [T/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_S521N,Missense_S494N,Missense_S494N,Missense_S521N,Missense_S521N rs6681911 1 85117113 [T/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP Silent,Silent,Silent,Silent,Silent var_1_85121690 1 85121690 [T/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP Silent,Silent,Silent,Silent,Silent exm71145 1 85124142 [T/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_D313N,Missense_D286N,Missense_D286N,Missense_D313N,Missense_D313N rs2911562 1 85126143 [T/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP Silent,Silent,Silent,Silent,Silent indel.4477 1 85136391 [I/D] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON exm71174 1 85136884 [T/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_V7I,Silent,Silent,Missense_V7I,Missense_V7I rs6687220 1 85140555 [T/G] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP Silent,Silent,Silent,Silent,Silent rs11164043 1 85167337 [T/C] rs11805570 1 85203780 [T/C] exm2260778 1 85206477 [T/C] rs11161441 1 85212582 [T/C] exm2268717 1 85213900 [T/C] rs4471288 1 85214543 [T/C] rs1770566 1 85227586 [A/G] rs1750485 1 85229561 [T/C] rs1326004 1 85242494 [T/C] rs9724696 1 85246297 [A/G] rs9728120 1 85259661 [A/G] rs10782528 1 85268208 [A/G] rs10782529 1 85268243 [T/C] rs11161458 1 85271708 [A/G] rs17115896 1 85273362 [T/C] exm71182 1 85279636 [A/G] NM_012152 LPAR3 EXON Missense_R319C exm71186 1 85279729 [T/C] NM_012152 LPAR3 EXON Missense_V288M exm71192 1 85279851 [A/G] NM_012152 LPAR3 EXON Missense_A247V exm1914365 1 85279852 [T/C] NM_012152 LPAR3 EXON Missense_A247T rs9728717 1 85290409 [T/C] NM_012152 LPAR3 Silent rs1409213 1 85290827 [A/G] NM_012152 LPAR3 Silent rs11161464 1 85298111 [A/G] NM_012152 LPAR3 Silent rs1409215 1 85310832 [A/G] NM_012152 LPAR3 Silent exm-rs1983853 1 85311192 [T/C] NM_012152 LPAR3 Silent exm2268718 1 85316840 [T/G] NM_012152 LPAR3 Silent rs4907103 1 85316840 [T/G] NM_012152 LPAR3 Silent rs10873661 1 85328096 [A/G] NM_012152 LPAR3 Silent exm71194 1 85331112 [T/C] NM_012152 LPAR3 EXON Missense_R231Q exm1914426 1 85331173 [T/C] NM_012152 LPAR3 EXON Missense_V211M variant.4478 1 85331367 [A/G] NM_012152 LPAR3 EXON Missense_T146I exm71210 1 85331400 [T/C] NM_012152 LPAR3 EXON Missense_R135Q exm71212 1 85331431 [T/C] NM_012152 LPAR3 EXON Missense_V125M indel.4480 1 85331763 [I/D] NM_012152 LPAR3 EXON rs7512497 1 85335709 [A/G] NM_012152 LPAR3 Silent rs4907105 1 85340005 [A/C] NM_012152 LPAR3 Silent rs1886647 1 85354563 [A/G] NM_012152 LPAR3 Silent rs12023575 1 85366164 [T/C] rs4907110 1 85371265 [T/C] rs4907013 1 85371391 [A/G] rs1536120 1 85382107 [A/G] rs12136250 1 85384472 [A/G] variant.4481 1 85395240 [A/C] NM_153259,NM_001330647 MCOLN2,MCOLN2 Silent,Silent var_1_85395281 1 85395281 [A/C] NM_153259,NM_001330647 MCOLN2,MCOLN2 EXON Nonsense_E542X,Nonsense_E514X rs607345 1 85396158 [T/C] NM_153259,NM_001330647 MCOLN2,MCOLN2 Silent,Silent exm71248 1 85397076 [A/G] NM_153259,NM_001330647 MCOLN2,MCOLN2 EXON Missense_A504V,Missense_A476V rs1325277 1 85400114 [A/C] NM_153259,NM_001330647 MCOLN2,MCOLN2 Silent,Silent rs634294 1 85402997 [A/G] NM_153259,NM_001330647 MCOLN2,MCOLN2 Silent,Silent exm71270 1 85405238 [T/G] NM_153259,NM_001330647 MCOLN2,MCOLN2 EXON Missense_K370Q,Missense_K342Q exm71271 1 85405243 [T/A] NM_153259,NM_001330647 MCOLN2,MCOLN2 EXON Missense_K368I,Missense_K340I exm71272 1 85405253 [T/C] NM_153259,NM_001330647 MCOLN2,MCOLN2 EXON Missense_M365V,Missense_M337V exm71273 1 85405268 [A/C] NM_153259,NM_001330647 MCOLN2,MCOLN2 EXON Missense_G360C,Missense_G332C exm71278 1 85406567 [A/G] NM_153259,NM_001330647 MCOLN2,MCOLN2 EXON Missense_R319W,Missense_R291W indel.4486 1 85406665 [I/D] NM_153259,NM_001330647 MCOLN2,MCOLN2 EXON exm71286 1 85412716 [T/A] NM_153259,NM_001330647 MCOLN2,MCOLN2 EXON Missense_T283S,Missense_T255S exm71287 1 85412722 [T/C] NM_153259,NM_001330647 MCOLN2,MCOLN2 EXON Missense_G281R,Missense_G253R exm71290 1 85412803 [A/T] NM_153259,NM_001330647 MCOLN2,MCOLN2 EXON Missense_N254Y,Missense_N226Y rs570564 1 85413765 [T/C] NM_153259,NM_001330647 MCOLN2,MCOLN2 Silent,Silent exm71291 1 85417927 [A/G] NM_153259,NM_001330647 MCOLN2,MCOLN2 EXON Missense_T249M,Missense_T221M variant.4488 1 85418129 [T/C] NM_153259,NM_001330647 MCOLN2,MCOLN2 EXON Missense_R217Q,Missense_R189Q rs504504 1 85420044 [A/C] NM_153259,NM_001330647 MCOLN2,MCOLN2 Silent,Silent rs632545 1 85422061 [T/C] NM_153259,NM_001330647 MCOLN2,MCOLN2 Silent,Silent newrs148979230 1 85431301 [T/G] NM_153259,NM_001330647 MCOLN2,MCOLN2 EXON Nonsense_Y56X,Nonsense_Y28X exm71324 1 85431317 [T/C] NM_153259,NM_001330647 MCOLN2,MCOLN2 EXON Missense_S51N,Missense_S23N rs6691970 1 85450920 [T/C] NM_153259,NM_001330647 MCOLN2,MCOLN2 Silent,Silent exm71330 1 85462498 [T/C] NM_153259,NM_001330647 MCOLN2,MCOLN2 EXON Missense_V20I,Silent rs10873679 1 85467045 [T/C] rs12730329 1 85481700 [A/C] rs7522239 1 85484366 [A/G] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Silent,Silent rs10782537 1 85484473 [T/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Silent,Silent exm1914629 1 85484931 [T/G] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_Q457K,Missense_Q513K variant.4494 1 85486748 [A/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 Silent,Silent exm1914635 1 85487850 [A/G] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_A352V,Missense_A408V indel.4496 1 85487860 [D/I] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON variant.4497 1 85487981 [T/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 Silent,Silent exm71360 1 85487982 [A/G] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Synonymous_N343N,Synonymous_N399N variant.4499 1 85488006 [T/G] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Nonsense_Y335X,Nonsense_Y391X exm71363 1 85488011 [A/G] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Nonsense_R334X,Nonsense_R390X newrs187985308 1 85488011 [A/G] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Nonsense_R334X,Nonsense_R390X exm71365 1 85488072 [A/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_S313R,Missense_S369R rs7529904 1 85490566 [T/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 Silent,Silent exm71382 1 85498408 [G/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_L179V,Missense_L235V variant.4501 1 85498411 [A/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Nonsense_E178X,Nonsense_E234X variant.4502 1 85498555 [T/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_R156K,Missense_R212K exm71386 1 85498555 [T/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_R156K,Missense_R212K exm71387 1 85498591 [A/G] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_A144V,Missense_A200V exm1914650 1 85499832 [T/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_N111D,Missense_N167D exm71394 1 85499910 [T/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_V85I,Missense_V141I variant.4503 1 85506692 [T/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 Silent,Silent variant.4504 1 85510878 [A/G] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Nonsense_R56X,Nonsense_R56X exm71404 1 85510898 [G/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_P49R,Missense_P49R indel.4505 1 85510907 [I/D] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON exm71411 1 85510965 [A/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_S27A,Missense_S27A exm71412 1 85510985 [T/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_C20Y,Missense_C20Y exm71413 1 85510988 [T/C] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON Missense_R19H,Missense_R19H indel.4506 1 85511004 [I/D] NM_001253693,NM_018298 MCOLN3,MCOLN3 EXON rs6576746 1 85530186 [T/G] NM_001288563,NM_145172 WDR63,WDR63 Silent,Silent rs6695223 1 85531711 [T/C] NM_001288563,NM_145172 WDR63,WDR63 Silent,Silent exm-IND1-85310248 1 85537661 [I/D] NM_001288563,NM_145172 WDR63,WDR63 EXON variant.4507 1 85538780 [A/G] NM_001288563,NM_145172 WDR63,WDR63 Silent,Silent rs12079571 1 85541164 [T/C] NM_001288563,NM_145172 WDR63,WDR63 Silent,Silent rs7517848 1 85541721 [T/C] NM_001288563,NM_145172 WDR63,WDR63 Silent,Silent exm71423 1 85546976 [T/C] NM_001288563,NM_145172 WDR63,WDR63 EXON Nonsense_R55X,Nonsense_R55X exm1914805 1 85546984 [A/T] NM_001288563,NM_145172 WDR63,WDR63 EXON Missense_D57E,Missense_D57E exm71437 1 85551538 [T/C] NM_001288563,NM_145172 WDR63,WDR63 EXON Nonsense_R189X,Nonsense_R189X exm71442 1 85551595 [C/G] NM_001288563,NM_145172 WDR63,WDR63 EXON Missense_D208H,Missense_D208H rs1542427 1 85554402 [T/C] NM_001288563,NM_145172 WDR63,WDR63 Silent,Silent exm71445 1 85555822 [T/C] NM_001288563,NM_145172 WDR63,WDR63 EXON Silent,Missense_T255M rs1770691 1 85556791 [A/G] NM_001288563,NM_145172 WDR63,WDR63 Silent,Silent exm71449 1 85559205 [A/G] NM_001288563,NM_145172 WDR63,WDR63 EXON Missense_A269T,Missense_A308T exm71452 1 85559271 [A/G] NM_001288563,NM_145172 WDR63,WDR63 EXON Missense_D291N,Missense_D330N rs709767 1 85561954 [A/G] NM_001288563,NM_145172 WDR63,WDR63 Silent,Silent exm2233887 1 85563277 [A/C] NM_001288563,NM_145172 WDR63,WDR63 EXON Missense_H391P,Missense_H430P rs1026469 1 85568972 [A/G] NM_001288563,NM_145172 WDR63,WDR63 Silent,Silent rs709760 1 85574748 [T/C] NM_001288563,NM_145172 WDR63,WDR63 Silent,Silent rs817482 1 85578057 [T/C] NM_001288563,NM_145172 WDR63,WDR63 Silent,Silent exm71483 1 85583460 [T/C] NM_001288563,NM_145172 WDR63,WDR63 EXON Missense_P573L,Missense_P612L rs4556376 1 85584046 [T/C] NM_001288563,NM_145172 WDR63,WDR63 Silent,Silent rs1026468 1 85588015 [T/C] NM_001288563,NM_145172 WDR63,WDR63 Silent,Silent exm71487 1 85589842 [A/G] NM_001288563,NM_145172 WDR63,WDR63 EXON Missense_T635A,Missense_T674A exm71493 1 85589914 [A/G] NM_001288563,NM_145172 WDR63,WDR63 EXON Missense_I659V,Missense_I698V indel.4514 1 85592231 [D/I] NM_001288563,NM_145172 WDR63,WDR63 EXON variant.4515 1 85592284 [T/C] NM_001288563,NM_145172 WDR63,WDR63 EXON Nonsense_R696X,Nonsense_R735X exm71504 1 85592353 [A/C] NM_001288563,NM_145172 WDR63,WDR63 EXON Missense_I719L,Missense_I758L exm71505 1 85592362 [A/G] NM_001288563,NM_145172 WDR63,WDR63 EXON Missense_T722A,Missense_T761A exm71508 1 85594392 [T/C] NM_001288563,NM_145172 WDR63,WDR63 EXON Synonymous_S734S,Synonymous_S773S exm71509 1 85594430 [C/G] NM_001288563,NM_145172 WDR63,WDR63 EXON Missense_T747R,Missense_T786R exm71511 1 85594466 [A/G] NM_001288563,NM_145172 WDR63,WDR63 EXON Missense_R759H,Missense_R798H rs817476 1 85596749 [T/C] NM_001288563,NM_145172 WDR63,WDR63 Silent,Silent exm71521 1 85598596 [A/G] NM_001288563,NM_145172 WDR63,WDR63 EXON Missense_S825N,Missense_S864N rs1870327 1 85602412 [T/C] rs12750492 1 85615649 [A/G] exm71527 1 85624470 [T/C] NM_032184 SYDE2 EXON Missense_R1183H exm71528 1 85624512 [A/T] NM_032184 SYDE2 EXON Missense_D1169V exm71530 1 85624549 [T/C] NM_032184 SYDE2 EXON Missense_V1157I indel.4518 1 85624595 [D/I] NM_032184 SYDE2 EXON exm71534 1 85624690 [T/C] NM_032184 SYDE2 EXON Missense_V1110M exm71538 1 85624837 [T/C] NM_032184 SYDE2 EXON Missense_M1061V rs817413 1 85625855 [T/G] NM_032184 SYDE2 Silent variant.4519 1 85630204 [T/C] NM_032184 SYDE2 Silent exm71544 1 85634847 [A/C] NM_032184 SYDE2 EXON Missense_E911D rs2054238 1 85641427 [T/C] NM_032184 SYDE2 Silent indel.4520 1 85643865 [I/D] NM_032184 SYDE2 EXON indel.4521 1 85643885 [I/D] NM_032184 SYDE2 EXON exm71551 1 85643954 [A/G] NM_032184 SYDE2 EXON Missense_V849A rs17122989 1 85647868 [T/C] NM_032184 SYDE2 EXON Synonymous_Q819Q exm71560 1 85647999 [C/G] NM_032184 SYDE2 EXON Missense_H776D indel.4523 1 85648077 [D/I] NM_032184 SYDE2 EXON variant.4524 1 85648161 [A/G] NM_032184 SYDE2 EXON Nonsense_R722X variant.4525 1 85648229 [T/G] NM_032184 SYDE2 EXON Nonsense_S699X indel.4526 1 85648463 [D/I] NM_032184 SYDE2 EXON indel.4527 1 85648468 [D/I] NM_032184 SYDE2 EXON exm71575 1 85648554 [A/G] NM_032184 SYDE2 EXON Nonsense_R591X exm71578 1 85648620 [T/C] NM_032184 SYDE2 EXON Missense_V569I exm71579 1 85648625 [T/C] NM_032184 SYDE2 EXON Missense_R567Q exm71581 1 85648692 [T/C] NM_032184 SYDE2 EXON Missense_V545I variant.4529 1 85648755 [A/G] NM_032184 SYDE2 EXON Nonsense_R524X exm71587 1 85648873 [G/C] NM_032184 SYDE2 EXON Missense_I484M rs11161539 1 85648905 [T/C] NM_032184 SYDE2 Silent rs11161543 1 85653831 [A/G] NM_032184 SYDE2 Silent exm71589 1 85655854 [T/C] NM_032184 SYDE2 EXON Missense_I443V exm71592 1 85655902 [T/C] NM_032184 SYDE2 EXON Missense_E427K exm71594 1 85655916 [A/G] NM_032184 SYDE2 EXON Missense_S422L exm71597 1 85656121 [A/G] NM_032184 SYDE2 EXON Missense_C354R exm71601 1 85656289 [C/G] NM_032184 SYDE2 EXON Missense_P298A exm71604 1 85656369 [A/G] NM_032184 SYDE2 EXON Missense_I271T exm71606 1 85656408 [A/G] NM_032184 SYDE2 EXON Missense_S258L exm71607 1 85656409 [A/G] NM_032184 SYDE2 EXON Missense_S258P exm71608 1 85656421 [T/C] NM_032184 SYDE2 EXON Missense_A254T rs4907139 1 85662851 [A/G] NM_032184 SYDE2 Silent variant.4533 1 85665930 [T/C] NM_032184 SYDE2 Silent exm71611 1 85665973 [T/A] NM_032184 SYDE2 EXON Missense_V236D exm1915100 1 85666118 [T/C] NM_032184 SYDE2 EXON Missense_V188I exm71617 1 85666156 [T/G] NM_032184 SYDE2 EXON Missense_Q175P exm1915101 1 85666163 [A/C] NM_032184 SYDE2 EXON Missense_D173Y rs11161548 1 85680408 [A/G] rs10218661 1 85681278 [A/C] rs12065219 1 85682261 [T/C] rs963208 1 85686552 [T/C] rs6660237 1 85696004 [A/G] rs9432848 1 85700596 [A/G] rs11161557 1 85701071 [T/G] rs7524465 1 85704193 [A/C] rs10782546 1 85716807 [A/G] NM_198077,NR_024113 C1orf52,C1orf52 EXON Silent,Silent exm71636 1 85718340 [A/G] NM_198077,NR_024113 C1orf52,C1orf52 EXON Missense_P174L,Silent rs10158486 1 85720007 [T/C] NM_198077,NR_024113 C1orf52,C1orf52 Silent,Silent exm71639 1 85724289 [T/C] NM_198077,NR_024113 C1orf52,C1orf52 EXON Missense_I131M,Silent rs11161573 1 85724581 [A/G] NM_198077,NR_024113 C1orf52,C1orf52 Silent,Silent exm71646 1 85725118 [T/C] NM_198077,NR_024113 C1orf52,C1orf52 EXON Missense_T67A,Silent rs11161574 1 85727044 [T/C] rs12143319 1 85727335 [A/G] rs2647394 1 85729987 [A/G] rs962409 1 85732941 [A/C] NM_001320715,NM_003921 BCL10,BCL10 EXON Silent,Silent variant.4537 1 85733318 [A/G] NM_001320715,NM_003921 BCL10,BCL10 EXON Nonsense_R221X,Nonsense_R232X exm71656 1 85733374 [T/C] NM_001320715,NM_003921 BCL10,BCL10 EXON Missense_G202E,Missense_G213E exm71666 1 85736358 [G/C] NM_001320715,NM_003921 BCL10,BCL10 EXON Missense_Q97E,Missense_Q97E exm71672 1 85736384 [T/C] NM_001320715,NM_003921 BCL10,BCL10 EXON Missense_R88Q,Missense_R88Q exm71673 1 85736387 [T/C] NM_001320715,NM_003921 BCL10,BCL10 EXON Missense_R87Q,Missense_R87Q rs11161581 1 85738395 [A/G] NM_001320715,NM_003921 BCL10,BCL10 Silent,Silent rs4949927 1 85740024 [T/C] NM_001320715,NM_003921 BCL10,BCL10 Silent,Silent rs2735591 1 85744472 [A/G] rs2030075 1 85763899 [T/C] rs12098220 1 85765619 [T/C] rs11587512 1 85765798 [A/G] rs233100 1 85772009 [A/G] rs233112 1 85785751 [T/C] NM_001134445,NM_012137,NM_001330655 DDAH1,DDAH1,DDAH1 EXON Silent,Silent,Silent rs3813600 1 85786166 [A/G] NM_001134445,NM_012137,NM_001330655 DDAH1,DDAH1,DDAH1 EXON Silent,Silent,Silent rs1498374 1 85787334 [T/C] NM_001134445,NM_012137,NM_001330655 DDAH1,DDAH1,DDAH1 Silent,Silent,Silent exm1915228 1 85790511 [A/G] NM_001134445,NM_012137,NM_001330655 DDAH1,DDAH1,DDAH1 EXON Missense_I115T,Missense_I218T,Missense_I118T exm71693 1 85790541 [T/C] NM_001134445,NM_012137,NM_001330655 DDAH1,DDAH1,DDAH1 EXON Missense_R105H,Missense_R208H,Missense_R108H rs233130 1 85795112 [T/C] NM_001134445,NM_012137,NM_001330655 DDAH1,DDAH1,DDAH1 Silent,Silent,Silent rs233072 1 85807695 [A/G] NM_001134445,NM_012137,NM_001330655 DDAH1,DDAH1,DDAH1 Silent,Silent,Silent exm71696 1 85816136 [T/C] NM_001134445,NM_012137,NM_001330655 DDAH1,DDAH1,DDAH1 EXON Missense_A84T,Missense_A187T,Missense_A87T variant.4539 1 85817221 [A/G] NM_001134445,NM_012137,NM_001330655 DDAH1,DDAH1,DDAH1 EXON Nonsense_R46X,Nonsense_R149X,Nonsense_R49X rs233044 1 85828840 [T/C] NM_001134445,NM_012137,NM_001330655 DDAH1,DDAH1,DDAH1 Silent,Silent,Silent rs233051 1 85838413 [A/G] NM_001134445,NM_012137,NM_001330655 DDAH1,DDAH1,DDAH1 Silent,Silent,Silent rs11161606 1 85853902 [T/C] NM_001134445,NM_012137,NM_001330655 DDAH1,DDAH1,DDAH1 Silent,Silent,Silent rs1975755 1 85882905 [A/G] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs7521189 1 85889596 [A/G] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs1523993 1 85899128 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs593728 1 85902045 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs539714 1 85904338 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs11161616 1 85907625 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs1146382 1 85918101 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs877041 1 85923920 [A/G] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs12568675 1 85924464 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs480414 1 85927463 [A/G] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs527762 1 85929214 [A/C] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent exm71716 1 85930469 [A/G] NM_001134445,NM_012137 DDAH1,DDAH1 EXON Silent,Missense_T87M exm71718 1 85930482 [C/G] NM_001134445,NM_012137 DDAH1,DDAH1 EXON Silent,Missense_V83L exm71721 1 85930530 [C/G] NM_001134445,NM_012137 DDAH1,DDAH1 EXON Silent,Missense_A67P rs1403956 1 85933638 [A/G] NM_001134445 DDAH1 Silent rs10158333 1 85939476 [T/C] NM_001134445 DDAH1 Silent rs512298 1 85942879 [A/G] NM_001134445 DDAH1 Silent rs562080 1 85954113 [T/G] NM_001134445 DDAH1 Silent rs17099243 1 85955709 [A/G] NM_001134445 DDAH1 Silent rs1361714 1 85960156 [A/G] NM_001134445 DDAH1 Silent exm2268908 1 85970975 [T/G] NM_001134445 DDAH1 Silent rs677691 1 85974030 [A/C] NM_001134445 DDAH1 Silent rs12063095 1 85975457 [T/C] NM_001134445 DDAH1 Silent rs17099679 1 86008398 [A/G] NM_001134445 DDAH1 Silent rs11161637 1 86021169 [A/G] NM_001134445 DDAH1 Silent rs1378227 1 86028530 [T/C] NM_001134445 DDAH1 Silent rs10493772 1 86035513 [T/C] NM_001134445 DDAH1 Silent rs3753793 1 86045888 [A/C] exm71756 1 86048526 [C/G] NM_001554 CYR61 EXON Missense_S316C exm71758 1 86048579 [T/C] NM_001554 CYR61 EXON Missense_R334W exm2253499 1 86048659 [A/G] NM_001554 CYR61 EXON Synonymous_P360P exm71763 1 86048692 [T/G] NM_001554 CYR61 EXON Missense_R371S rs1329961 1 86050700 [T/C] rs1571549 1 86050965 [T/C] rs7518036 1 86064486 [A/G] rs2389969 1 86069153 [T/C] rs4949915 1 86073045 [A/G] rs2026774 1 86076069 [T/C] rs12066742 1 86081149 [A/G] rs12061951 1 86081453 [T/C] rs2069208 1 86117583 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Silent,Silent exm71777 1 86123563 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_G408R,Missense_G447R rs10493773 1 86125753 [A/G] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 Silent,Silent rs17399027 1 86126900 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 Silent,Silent rs821383 1 86132860 [A/G] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 Silent,Silent exm71787 1 86144451 [T/G] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_K329Q,Missense_K368Q exm1915864 1 86167856 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_T296A,Missense_T335A exm71798 1 86171840 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_R240Q,Missense_R279Q exm71800 1 86171945 [G/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_M233I,Missense_M272I exm71802 1 86171988 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_R219Q,Missense_R258Q variant.4544 1 86171989 [A/G] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Nonsense_R219X,Nonsense_R258X exm71810 1 86172163 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Synonymous_A189A,Synonymous_A228A exm2253504 1 86172163 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Synonymous_A189A,Synonymous_A228A rs952837 1 86172978 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 Silent,Silent exm71826 1 86173744 [A/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_L75R,Missense_L75R exm71827 1 86173753 [A/G] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_P72L,Missense_P72L indel.4546 1 86173763 [D/I] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON exm71839 1 86173943 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_G9R,Missense_G9R rs1764285 1 86174563 [T/C] rs1047893 1 86195047 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm71844 1 86196270 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Nonsense_R1702X,Silent,Silent,Nonsense_R1002X exm71846 1 86196305 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_I1690T,Silent,Silent,Missense_I990T exm71849 1 86200461 [G/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_E1657Q,Silent,Silent,Missense_E957Q exm71851 1 86200509 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_G1641S,Silent,Silent,Missense_G941S exm2233895 1 86200556 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_T1625I,Silent,Silent,Missense_T925I rs7530774 1 86202659 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm71866 1 86210409 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Nonsense_R1538X,Silent,Silent,Nonsense_R838X exm71872 1 86211182 [T/A] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_M1482K,Silent,Silent,Missense_M782K rs392038 1 86233871 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm71879 1 86241379 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_E1451G,Silent,Silent,Missense_E751G rs313728 1 86245155 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12563027 1 86247318 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm71883 1 86249192 [T/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_P1424H,Silent,Silent,Missense_P724H exm71891 1 86249998 [G/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_R1371G,Silent,Silent,Missense_R671G exm1915915 1 86252084 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_K1338E,Silent,Silent,Missense_K638E rs313733 1 86259699 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs366187 1 86265259 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12727784 1 86268032 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs313740 1 86272858 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12239978 1 86273786 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.4551 1 86282479 [A/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Nonsense_G1315X,Silent,Silent,Nonsense_G615X indel.4552 1 86283718 [I/D] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON exm71904 1 86283736 [G/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_S1275C,Silent,Silent,Missense_S575C exm2277142 1 86289269 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_E1247K,Silent,Silent,Missense_E547K exm71911 1 86289373 [T/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_P1244T,Silent,Silent,Missense_P544T rs11161686 1 86301180 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm71913 1 86304282 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_A1223T,Silent,Silent,Missense_A523T exm71914 1 86304311 [G/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_G1213A,Silent,Silent,Missense_G513A rs313702 1 86309622 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12133414 1 86326832 [A/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12759687 1 86328120 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs313769 1 86333141 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.4554 1 86334202 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Synonymous_P1100P,Silent,Silent,Synonymous_P400P exm71929 1 86334302 [C/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_P1067R,Silent,Silent,Missense_P367R exm71932 1 86334472 [A/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_G1062V,Silent,Silent,Missense_G362V rs1072508 1 86345486 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12755267 1 86350554 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11589719 1 86352629 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm71954 1 86355295 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_G975D,Silent,Silent,Missense_G275D variant.4557 1 86355298 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm71956 1 86361571 [T/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_N964K,Silent,Silent,Missense_N264K exm71968 1 86374318 [T/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_P896H,Silent,Silent,Missense_P196H exm71976 1 86377073 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_I869T,Silent,Silent,Missense_I169T rs6703317 1 86378429 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12136742 1 86380987 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11161711 1 86412177 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs605060 1 86416725 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6665006 1 86424650 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs560876 1 86425382 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.4562 1 86430692 [A/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_K839N,Silent,Silent,Missense_K139N exm71982 1 86435932 [T/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_A814D,Silent,Silent,Missense_A114D rs593146 1 86439443 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10493780 1 86450400 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2268719 1 86457334 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12120406 1 86459250 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7547149 1 86463845 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17128651 1 86465736 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12040977 1 86466085 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs585708 1 86468500 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9701002 1 86469506 [A/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6679444 1 86479771 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11161721 1 86487914 [A/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm72000 1 86487952 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_P743S,Silent,Silent,Missense_P43S exm72002 1 86487957 [A/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_G741V,Silent,Silent,Missense_G41V exm72005 1 86488232 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_P731S,Silent,Silent,Missense_P31S rs641712 1 86488232 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_P731S,Silent,Silent,Missense_P31S exm2253513 1 86488239 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Synonymous_P728P,Silent,Silent,Synonymous_P28P variant.4564 1 86488516 [A/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_K716N,Silent,Silent,Missense_K16N exm72011 1 86488559 [A/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_G702V,Silent,Silent,Missense_G2V exm72014 1 86488689 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_G684D,Silent,Silent,Silent rs565860 1 86490043 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.4566 1 86499553 [A/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Synonymous_P668P,Silent,Silent,Silent exm72017 1 86499587 [A/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_G657V,Silent,Silent,Silent rs695051 1 86501618 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17128768 1 86507592 [A/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm72022 1 86512531 [T/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_K643Q,Silent,Silent,Silent exm72023 1 86512536 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_R641H,Silent,Silent,Silent exm72024 1 86515808 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_R635Q,Silent,Silent,Silent rs12742014 1 86529390 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4912461 1 86547798 [T/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10782563 1 86552269 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.4569 1 86554875 [D/I] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON rs11161732 1 86557967 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_P546S,Silent,Silent,Silent exm72037 1 86557967 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_P546S,Silent,Silent,Silent indel.4570 1 86557987 [D/I] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON rs1605416 1 86563718 [A/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12024954 1 86579895 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6680321 1 86584695 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4631724 1 86587726 [T/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.4571 1 86590528 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Synonymous_P497P,Silent,Silent,Silent exm2275458 1 86590578 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_M481V,Silent,Silent,Silent exm2233897 1 86590670 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_E450G,Silent,Silent,Silent exm72061 1 86590940 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_K360R,Silent,Silent,Silent exm72064 1 86590955 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_R355H,Silent,Silent,Silent exm72065 1 86590956 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_R355C,Silent,Silent,Silent exm72066 1 86590959 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_H354Y,Silent,Silent,Silent exm72069 1 86591001 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_E340K,Silent,Silent,Silent exm72072 1 86591036 [T/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_T328K,Silent,Silent,Silent exm72076 1 86591105 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_Q305R,Silent,Silent,Silent exm72077 1 86591141 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_I293T,Silent,Silent,Silent exm72078 1 86591142 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_I293V,Silent,Silent,Silent exm72079 1 86591147 [T/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_P291Q,Silent,Silent,Silent exm72085 1 86591291 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_R243H,Silent,Silent,Silent exm1916113 1 86591417 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_S201N,Silent,Silent,Silent exm72092 1 86591567 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_P151L,Silent,Silent,Silent rs1027819 1 86591567 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_P151L,Silent,Silent,Silent exm72094 1 86591672 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_R116Q,Silent,Silent,Silent exm72097 1 86591736 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_V95M,Silent,Silent,Silent exm72104 1 86591837 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_A61V,Silent,Silent,Silent rs1507264 1 86592526 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1507263 1 86593968 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1507262 1 86594301 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7516054 1 86603942 [T/C] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12070992 1 86621256 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2275214 1 86622024 [A/G] NR_146341,NR_146340,NR_146342,NR_146343,NM_152890,NR_146344,NR_146345,NM_001349955 COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1,COL24A1 EXON Silent,Silent,Silent,Silent,Missense_T19M,Silent,Silent,Silent rs1112865 1 86635245 [T/C] rs1507279 1 86641674 [T/C] rs1108395 1 86651383 [T/C] rs10873761 1 86653341 [T/C] rs1507269 1 86664081 [T/C] rs1507290 1 86684713 [A/G] rs6576821 1 86697145 [A/C] rs7519336 1 86717874 [T/C] rs6420973 1 86720853 [T/C] rs7546158 1 86736880 [T/C] rs17129031 1 86736892 [T/C] rs1998450 1 86745177 [T/C] rs7513039 1 86745979 [T/C] rs1323029 1 86769951 [A/G] rs969396 1 86773046 [A/G] rs272487 1 86805880 [T/C] exm72127 1 86818544 [T/C] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_S549G,Missense_S578G,Missense_S615G,Missense_S631G exm72134 1 86818610 [T/A] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_L527I,Missense_L556I,Missense_L593I,Missense_L609I exm72135 1 86818637 [T/C] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_R518G,Missense_R547G,Missense_R584G,Missense_R600G rs1182098 1 86820267 [T/C] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Synonymous_E489E,Synonymous_E518E,Synonymous_E555E,Synonymous_E571E var_1_86820290 1 86820290 [I/D] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON variant.4578 1 86820482 [A/G] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Nonsense_Q445X,Nonsense_Q474X,Nonsense_Q511X,Nonsense_Q527X exm72147 1 86822204 [T/C] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Silent,Silent,Missense_E452K,Missense_E481K exm2253528 1 86822226 [T/C] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Silent,Silent,Synonymous_T444T,Synonymous_T473T rs385437 1 86822231 [A/G] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Silent,Silent,Synonymous_L443L,Synonymous_L472L exm72154 1 86822245 [T/C] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Silent,Silent,Missense_R438H,Missense_R467H exm72155 1 86822246 [A/G] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Silent,Silent,Missense_R438C,Missense_R467C exm72157 1 86822287 [T/G] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L Silent,Silent,Silent,Silent exm72163 1 86824496 [T/C] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_K416E,Missense_K445E,Missense_K416E,Missense_K445E rs272504 1 86833653 [A/G] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L Silent,Silent,Silent,Silent exm72169 1 86834369 [T/C] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Silent,Missense_M365V,Silent,Missense_M365V exm72173 1 86836816 [T/C] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_E314G,Missense_E314G,Missense_E314G,Missense_E314G indel.4587 1 86841963 [I/D] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON exm72189 1 86842044 [T/C] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_A228T,Missense_A228T,Missense_A228T,Missense_A228T rs272516 1 86847955 [A/G] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Synonymous_A198A,Synonymous_A198A,Synonymous_A198A,Synonymous_A198A exm72201 1 86847974 [T/C] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_Q192R,Missense_Q192R,Missense_Q192R,Missense_Q192R exm72202 1 86847987 [A/G] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Nonsense_R188X,Nonsense_R188X,Nonsense_R188X,Nonsense_R188X exm72205 1 86848019 [T/C] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_R177H,Missense_R177H,Missense_R177H,Missense_R177H indel.4596 1 86851248 [D/I] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON newrs146507461 1 86851274 [T/C] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L Silent,Silent,Silent,Silent rs1407719 1 86851420 [A/G] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L Silent,Silent,Silent,Silent exm72220 1 86852608 [A/G] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_H35Y,Missense_H35Y,Missense_H35Y,Missense_H35Y exm72222 1 86852625 [T/C] NM_001184766,NM_001184765,NM_020729,NM_001007022 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_R29Q,Missense_R29Q,Missense_R29Q,Missense_R29Q exm72242 1 86889944 [A/G] NM_006536 CLCA2 EXON Missense_S5N exm72255 1 86891073 [A/G] NM_006536 CLCA2 EXON Missense_V80I variant.4600 1 86894100 [A/G] NM_006536 CLCA2 Silent exm72264 1 86894231 [T/C] NM_006536 CLCA2 EXON Missense_T152I rs7415758 1 86895953 [A/G] NM_006536 CLCA2 Silent rs3737672 1 86896541 [A/G] NM_006536 CLCA2 Silent exm72279 1 86898101 [T/C] NM_006536 CLCA2 EXON Missense_P212S exm72291 1 86900372 [C/G] NM_006536 CLCA2 EXON Missense_Q306E variant.4603 1 86900433 [A/C] NM_006536 CLCA2 Silent rs1889337 1 86904325 [A/G] NM_006536 CLCA2 Silent exm2273658 1 86904587 [A/C] NM_006536 CLCA2 EXON Missense_A334D exm72299 1 86904597 [T/G] NM_006536 CLCA2 EXON Missense_F337L exm72300 1 86904620 [T/C] NM_006536 CLCA2 EXON Missense_I345T var_1_86904640 1 86904641 [D/I] NM_006536 CLCA2 EXON exm72301 1 86904649 [T/G] NM_006536 CLCA2 EXON Missense_D355Y exm72302 1 86904655 [A/G] NM_006536 CLCA2 EXON Missense_K357E exm72305 1 86904731 [T/C] NM_006536 CLCA2 EXON Missense_T382I exm72310 1 86905888 [A/G] NM_006536 CLCA2 EXON Missense_G421R exm72312 1 86905915 [T/A] NM_006536 CLCA2 EXON Missense_L430I exm72317 1 86906000 [A/G] NM_006536 CLCA2 EXON Missense_R458H exm72318 1 86906009 [A/G] NM_006536 CLCA2 Silent exm72322 1 86907149 [A/T] NM_006536 CLCA2 EXON Missense_S471T exm72325 1 86907225 [A/G] NM_006536 CLCA2 EXON Missense_Q496R variant.4606 1 86907226 [A/G] NM_006536 CLCA2 EXON Synonymous_Q496Q exm72328 1 86909504 [A/G] NM_006536 CLCA2 EXON Missense_H508R exm72330 1 86909555 [T/C] NM_006536 CLCA2 EXON Missense_M525T exm72333 1 86909582 [A/G] NM_006536 CLCA2 EXON Missense_G534D rs3820039 1 86909703 [T/C] NM_006536 CLCA2 Silent rs2249296 1 86910264 [T/C] NM_006536 CLCA2 Silent exm72355 1 86913377 [T/C] NM_006536 CLCA2 EXON Missense_P634S exm72363 1 86916350 [A/G] NM_006536 CLCA2 EXON Missense_I697V exm72365 1 86916415 [T/C] NM_006536 CLCA2 EXON Synonymous_N718N rs4656100 1 86917944 [T/C] NM_006536 CLCA2 Silent exm72368 1 86919111 [T/C] NM_006536 CLCA2 EXON Missense_W739R variant.4609 1 86919123 [T/C] NM_006536 CLCA2 EXON Nonsense_R743X exm72375 1 86920813 [A/G] NM_006536 CLCA2 EXON Missense_Q812R exm72376 1 86920833 [A/G] NM_006536 CLCA2 EXON Missense_I819V exm72377 1 86920855 [A/G] NM_006536 CLCA2 EXON Missense_R826Q exm72378 1 86920891 [T/C] NM_006536 CLCA2 EXON Missense_T838M exm1916512 1 86920912 [T/C] NM_006536 CLCA2 EXON Missense_T845M exm72383 1 86920977 [T/C] NM_006536 CLCA2 EXON Nonsense_R867X exm72385 1 86921002 [A/G] NM_006536 CLCA2 EXON Missense_Q875R indel.4611 1 86921043 [D/I] NM_006536 CLCA2 EXON exm72387 1 86921046 [T/C] NM_006536 CLCA2 EXON Missense_P890S rs4001077 1 86929452 [A/C] exm1916519 1 86934676 [G/C] NM_001285 CLCA1 EXON Missense_V8L exm72395 1 86934698 [T/C] NM_001285 CLCA1 EXON Missense_L15P exm72401 1 86939130 [T/C] NM_001285 CLCA1 EXON Missense_L65F variant.4612 1 86939210 [T/G] NM_001285 CLCA1 EXON Nonsense_Y91X exm72407 1 86939461 [A/G] NM_001285 CLCA1 EXON Missense_Y118C exm72411 1 86939540 [A/T] NM_001285 CLCA1 EXON Missense_L144F rs5744329 1 86940715 [A/G] NM_001285 CLCA1 Silent rs2753384 1 86940872 [T/C] NM_001285 CLCA1 Silent exm72415 1 86942184 [T/C] NM_001285 CLCA1 EXON Missense_Y169H exm72421 1 86948016 [A/C] NM_001285 CLCA1 EXON Missense_S229Y rs2791512 1 86948708 [A/G] NM_001285 CLCA1 Silent exm72427 1 86951099 [A/G] NM_001285 CLCA1 EXON Missense_R270Q variant.4613 1 86951244 [A/G] NM_001285 CLCA1 EXON Synonymous_A318A exm72433 1 86952219 [A/G] NM_001285 CLCA1 EXON Missense_R322H exm72436 1 86952324 [A/G] NM_001285 CLCA1 EXON Missense_N357S exm72437 1 86952407 [A/G] NM_001285 CLCA1 EXON Missense_I385V rs2075630 1 86952601 [A/G] NM_001285 CLCA1 Silent exm72456 1 86959173 [T/C] NM_001285 CLCA1 EXON Missense_M524T rs1321690 1 86959424 [A/C] NM_001285 CLCA1 Silent exm72464 1 86959928 [T/C] NM_001285 CLCA1 EXON Missense_T580M exm72466 1 86959979 [T/C] NM_001285 CLCA1 EXON Missense_T597M exm72468 1 86960014 [A/G] NM_001285 CLCA1 EXON Missense_V609I newrs142699292 1 86960041 [A/G] NM_001285 CLCA1 EXON Missense_A618T exm72474 1 86960099 [T/C] NM_001285 CLCA1 EXON Missense_T637I exm72478 1 86961226 [T/C] NM_001285 CLCA1 EXON Missense_Y661H exm72480 1 86961274 [A/G] NM_001285 CLCA1 EXON Missense_A677T exm72482 1 86961291 [C/G] NM_001285 CLCA1 EXON Missense_N682K exm72486 1 86961302 [A/G] NM_001285 CLCA1 EXON Missense_R686Q rs2791491 1 86962331 [T/G] NM_001285 CLCA1 Silent exm2233904 1 86964276 [T/C] NM_001285 CLCA1 EXON Missense_P712L exm72499 1 86965343 [A/G] NM_001285 CLCA1 EXON Missense_K787R indel.4618 1 86965396 [I/D] NM_001285 CLCA1 EXON rs1882753 1 86965419 [T/C] NM_001285 CLCA1 EXON Synonymous_T812T exm72504 1 86965595 [T/C] NM_001285 CLCA1 EXON Missense_P871L exm72508 1 86965622 [T/C] NM_001285 CLCA1 EXON Missense_T880M variant.4619 1 86965705 [T/G] NM_001285 CLCA1 EXON Nonsense_E908X rs1321686 1 86974115 [T/C] rs10489693 1 86981256 [A/G] rs13376522 1 86986617 [T/C] rs1547036 1 86988622 [A/C] rs2791473 1 86988709 [A/G] exm72516 1 87012929 [T/C] NM_012128,NR_024602 CLCA4,CLCA4 EXON Missense_P43S,Silent rs2390134 1 87014985 [A/G] NM_012128,NR_024602 CLCA4,CLCA4 Silent,Silent exm2265024 1 87015179 [A/G] NM_012128,NR_024602 CLCA4,CLCA4 Silent,Silent rs974843 1 87015179 [A/G] NM_012128,NR_024602 CLCA4,CLCA4 Silent,Silent newrs148031684 1 87025657 [I/D] NM_012128,NR_024602 CLCA4,CLCA4 EXON exm72520 1 87025754 [A/G] NM_012128,NR_024602 CLCA4,CLCA4 EXON Missense_H100R,Silent indel.4623 1 87025982 [D/I] NM_012128,NR_024602 CLCA4,CLCA4 EXON exm72525 1 87025994 [T/C] NM_012128,NR_024602 CLCA4,CLCA4 EXON Missense_T134I,Silent indel.4624 1 87025998 [I/D] NM_012128,NR_024602 CLCA4,CLCA4 EXON exm72526 1 87026002 [T/C] NM_012128,NR_024602 CLCA4,CLCA4 EXON Missense_L137F,Silent exm72527 1 87026017 [A/C] NM_012128,NR_024602 CLCA4,CLCA4 EXON Missense_K142Q,Silent exm72535 1 87030974 [A/C] NM_012128,NR_024602 CLCA4,CLCA4 EXON Missense_S192Y,Silent indel.4625 1 87030985 [D/I] NM_012128,NR_024602 CLCA4,CLCA4 EXON exm2233906 1 87031069 [G/C] NM_012128,NR_024602 CLCA4,CLCA4 EXON Missense_Q224E,Silent exm72549 1 87031656 [A/C] NM_012128,NR_024602 CLCA4,CLCA4 EXON Missense_S303R,Silent exm72550 1 87033116 [T/C] NM_012128,NR_024602 CLCA4,CLCA4 EXON Missense_R322C,Silent variant.4628 1 87033125 [T/C] NM_012128,NR_024602 CLCA4,CLCA4 EXON Nonsense_R325X,Silent indel.4629 1 87033130 [D/I] NM_012128,NR_024602 CLCA4,CLCA4 EXON exm72553 1 87033242 [A/C] NM_012128,NR_024602 CLCA4,CLCA4 EXON Missense_S364R,Silent exm72556 1 87033294 [A/G] NM_012128,NR_024602 CLCA4,CLCA4 EXON Missense_G381E,Silent exm72572 1 87038327 [T/C] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 EXON Missense_A464V,Silent,Silent exm72573 1 87038331 [G/C] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 EXON Missense_Q465H,Silent,Silent exm72574 1 87038350 [A/G] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 EXON Missense_A472T,Silent,Silent newrs145223695 1 87038389 [T/C] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 EXON Nonsense_Q485X,Silent,Silent exm72577 1 87038389 [T/C] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 EXON Nonsense_Q485X,Silent,Silent newrs190809182 1 87038403 [A/G] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 EXON Synonymous_Q489Q,Silent,Silent exm1916800 1 87038403 [A/G] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 EXON Synonymous_Q489Q,Silent,Silent indel.4634 1 87038450 [I/D] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 rs772598 1 87039945 [A/G] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 Silent,Silent,Silent exm2233907 1 87040229 [A/G] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 EXON Missense_S492G,Silent,Silent variant.4635 1 87040324 [A/G] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 EXON Nonsense_W523X,Silent,Silent exm72586 1 87040374 [T/C] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 EXON Missense_M540T,Silent,Silent exm72598 1 87041255 [A/G] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 EXON Missense_V642I,Silent,Silent exm2233908 1 87043586 [T/C] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 EXON Synonymous_G651G,Silent,Silent exm72602 1 87043726 [T/C] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 EXON Missense_A698V,Silent,Silent exm72603 1 87043728 [A/G] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 EXON Missense_A699T,Silent,Silent rs772607 1 87044583 [T/C] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 Silent,Silent,Silent variant.4638 1 87045036 [A/G] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 Silent,Silent,Silent exm72616 1 87045696 [G/C] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 EXON Missense_V810L,Silent,Silent exm72617 1 87045727 [G/C] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 EXON Missense_A820G,Silent,Silent exm72620 1 87045799 [T/C] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 EXON Missense_A844V,Silent,Silent exm72627 1 87045964 [T/C] NM_012128,NR_024602,NR_135837 CLCA4,CLCA4,LOC105378828 EXON Missense_T899M,Silent,Silent rs10157106 1 87054030 [T/C] NR_135837 LOC105378828 Silent rs12758538 1 87061970 [A/G] NR_135837 LOC105378828 Silent rs6679741 1 87062201 [A/G] NR_135837 LOC105378828 Silent rs6676519 1 87098109 [A/C] NR_135837 LOC105378828 Silent rs11161862 1 87100238 [T/G] NR_135837,NR_024604 LOC105378828,CLCA3P Silent,Silent newrs41286592 1 87102593 [T/C] NR_135837,NR_024604 LOC105378828,CLCA3P Silent,Silent rs538417 1 87106136 [T/C] NR_135837,NR_024604 LOC105378828,CLCA3P Silent,Silent rs12070029 1 87129397 [A/C] NR_135837 LOC105378828 Silent exm2263827 1 87156469 [A/C] NR_135837 LOC105378828 Silent 1KG_1_87181529 1 87181529 [I/D] NM_016009,NM_001206653,NM_001206651,NM_001206652 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON exm72671 1 87185190 [A/G] NM_016009,NM_001206653,NM_001206651,NM_001206652 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON Missense_N72S,Silent,Missense_N72S,Missense_N72S exm72673 1 87185250 [A/G] NM_016009,NM_001206653,NM_001206651,NM_001206652 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON Missense_N92S,Silent,Missense_N92S,Missense_N92S rs263463 1 87188881 [T/C] NM_016009,NM_001206653,NM_001206651,NM_001206652 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 Silent,Silent,Silent,Silent exm72683 1 87194101 [T/C] NM_016009,NM_001206653,NM_001206651,NM_001206652 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON Silent,Silent,Missense_R196C,Missense_R196C indel.4645 1 87200373 [I/D] NM_016009,NM_001206653,NM_001206651,NM_001206652 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON exm2253540 1 87208092 [T/C] NM_016009,NM_001206653,NM_001206651,NM_001206652 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON Synonymous_S321S,Synonymous_S221S,Synonymous_S350S,Synonymous_S342S exm72698 1 87208092 [T/C] NM_016009,NM_001206653,NM_001206651,NM_001206652 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON Synonymous_S321S,Synonymous_S221S,Synonymous_S350S,Synonymous_S342S rs10489890 1 87211940 [A/C] NM_016009,NM_001206653,NM_001206651,NM_001206652 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON Silent,Silent,Silent,Silent rs4523496 1 87221781 [A/G] rs166412 1 87242062 [T/G] rs691531 1 87245278 [T/C] rs1889783 1 87277974 [A/G] rs4282790 1 87293905 [T/C] rs526985 1 87316418 [T/C] rs496114 1 87327273 [T/C] rs540049 1 87328308 [T/C] NM_203341,NM_004261,NR_144512,NR_144513 SELENOF,SELENOF,SELENOF,SELENOF EXON Silent,Silent,Silent,Silent exm72701 1 87329165 [A/G] NM_203341,NM_004261,NR_144512,NR_144513 SELENOF,SELENOF,SELENOF,SELENOF EXON Silent,Missense_R164C,Silent,Silent exm72703 1 87329250 [A/G] NM_203341,NM_004261,NR_144512,NR_144513 SELENOF,SELENOF,SELENOF,SELENOF EXON Nonsense_R119X,Synonymous_D135D,Silent,Silent exm72709 1 87369103 [A/G] NM_203341,NM_004261,NR_144512,NR_144513 SELENOF,SELENOF,SELENOF,SELENOF EXON Missense_S38L,Missense_S38L,Silent,Silent exm72711 1 87369131 [A/C] NM_203341,NM_004261,NR_144512,NR_144513 SELENOF,SELENOF,SELENOF,SELENOF EXON Missense_V29L,Missense_V29L,Silent,Silent rs1407131 1 87378627 [T/C] NM_203341,NM_004261,NR_144512,NR_144513 SELENOF,SELENOF,SELENOF,SELENOF Silent,Silent,Silent,Silent exm72726 1 87379712 [A/G] NM_203341,NM_004261,NR_144512,NR_144513 SELENOF,SELENOF,SELENOF,SELENOF EXON Missense_A28V,Missense_A28V,Silent,Silent exm2253550 1 87379738 [T/C] NM_203341,NM_004261,NR_144512,NR_144513 SELENOF,SELENOF,SELENOF,SELENOF EXON Synonymous_R19R,Synonymous_R19R,Silent,Silent rs101028 1 87379996 [T/G] NM_203341,NM_004261,NR_144512,NR_144513 SELENOF,SELENOF,SELENOF,SELENOF EXON Silent,Silent,Silent,Silent exm72739 1 87380813 [A/C] NM_012262,NM_001134492 HS2ST1,HS2ST1 EXON Missense_Q32K,Missense_Q32K rs487006 1 87381454 [A/C] NM_012262,NM_001134492 HS2ST1,HS2ST1 Silent,Silent rs4233338 1 87477786 [A/G] NM_012262,NM_001134492 HS2ST1,HS2ST1 Silent,Silent rs11584931 1 87485139 [T/C] NM_012262,NM_001134492 HS2ST1,HS2ST1 Silent,Silent rs10127488 1 87505590 [A/G] NM_012262,NM_001134492 HS2ST1,HS2ST1 Silent,Silent rs6696540 1 87506127 [T/C] NM_012262,NM_001134492 HS2ST1,HS2ST1 Silent,Silent rs4610985 1 87520970 [A/G] NM_012262,NM_001134492 HS2ST1,HS2ST1 Silent,Silent rs7529516 1 87522312 [A/G] NM_012262,NM_001134492 HS2ST1,HS2ST1 Silent,Silent exm72743 1 87538625 [A/G] NM_012262,NM_001134492 HS2ST1,HS2ST1 EXON Missense_I45V,Missense_I45V variant.4647 1 87538643 [T/C] NM_012262,NM_001134492 HS2ST1,HS2ST1 EXON Nonsense_R51X,Nonsense_R51X rs1778013 1 87554612 [T/G] NM_012262,NM_001134492 HS2ST1,HS2ST1 Silent,Silent exm72761 1 87558242 [A/G] NM_012262,NM_001134492 HS2ST1,HS2ST1 EXON Missense_I160V,Missense_I160V indel.4648 1 87558286 [D/I] NM_012262,NM_001134492 HS2ST1,HS2ST1 EXON variant.4649 1 87563519 [A/G] NM_012262,NM_001134492 HS2ST1,HS2ST1 Silent,Silent exm72769 1 87569237 [A/G] NM_012262 HS2ST1 EXON Missense_R270Q exm72775 1 87570209 [A/G] NM_012262 HS2ST1 EXON Missense_I301V var_1_87570305 1 87570305 [T/C] NM_012262 HS2ST1 EXON Nonsense_R333X exm72780 1 87570306 [A/G] NM_012262 HS2ST1 EXON Missense_R333Q exm72783 1 87570335 [T/G] NM_012262 HS2ST1 EXON Missense_A343S rs1886632 1 87610246 [T/C] NR_026989 LINC01140 Silent rs719015 1 87611710 [A/G] NR_026989 LINC01140 Silent exm-rs7553864 1 87613358 [T/C] NR_026989 LINC01140 Silent rs11161935 1 87614191 [A/G] NR_026989 LINC01140 Silent rs1886634 1 87614821 [T/C] NR_026989 LINC01140 Silent rs12092928 1 87628834 [T/C] NR_026989 LINC01140 Silent rs11161939 1 87628868 [A/G] NR_026989 LINC01140 Silent rs4655841 1 87632354 [A/G] NR_026989 LINC01140 Silent rs17129860 1 87633929 [A/G] NR_026989 LINC01140 EXON Silent rs7512999 1 87641938 [A/G] rs7556318 1 87649865 [A/G] rs12563224 1 87663215 [A/G] rs7554095 1 87681151 [T/C] NM_001290053 LOC101927844 Silent rs7542364 1 87687466 [A/G] NM_001290053 LOC101927844 Silent rs10782594 1 87703049 [T/C] NM_001290053 LOC101927844 Silent rs7540876 1 87708655 [A/G] NM_001290053 LOC101927844 Silent rs10158460 1 87710877 [T/C] NM_001290053 LOC101927844 Silent rs4655941 1 87720853 [A/G] rs1330864 1 87722965 [T/C] exm2268720 1 87728007 [T/C] rs7544647 1 87732429 [T/C] rs12035326 1 87739930 [A/G] rs12407239 1 87743047 [A/G] rs4556331 1 87746998 [A/C] rs4233323 1 87750413 [A/G] rs6688319 1 87752886 [A/C] rs11161973 1 87769531 [T/C] rs10873829 1 87773431 [A/G] rs17129945 1 87773503 [T/C] rs944367 1 87774994 [T/G] rs2144523 1 87781157 [T/G] rs4488005 1 87790813 [T/G] exm2260817 1 87803200 [T/C] NM_006769 LMO4 Silent exm72819 1 87805743 [T/C] NM_006769 LMO4 EXON Missense_S116F rs3766022 1 87808352 [A/G] NM_006769 LMO4 Silent rs17422436 1 87834794 [A/G] NR_038324 LINC01364 Silent rs12402858 1 87845112 [A/G] rs746191 1 87849215 [A/G] rs12046968 1 87850703 [A/G] rs11161998 1 87854436 [A/G] rs10158426 1 87862181 [T/C] rs7554926 1 87866857 [T/C] rs4655956 1 87868540 [A/G] rs6697170 1 87875198 [T/C] rs12758097 1 87877226 [A/G] rs1006625 1 87877540 [A/G] rs4295863 1 87903024 [A/C] rs12727441 1 87915254 [T/C] rs6683030 1 87930889 [T/C] rs2065909 1 87934293 [T/C] rs11588332 1 87960461 [A/G] rs12239121 1 87962437 [T/C] rs10873853 1 87979762 [T/C] rs10782601 1 87988705 [T/C] rs6686199 1 87990070 [A/G] rs10873855 1 87998297 [A/G] rs6657047 1 88001013 [A/G] rs7355015 1 88015080 [T/C] rs6694829 1 88025144 [T/C] exm2253574 1 88035857 [A/G] rs10159232 1 88052301 [A/C] rs9433138 1 88055578 [A/G] rs2390324 1 88071255 [T/C] rs923545 1 88083782 [A/G] rs4655854 1 88086894 [A/C] rs12127587 1 88090813 [A/G] rs2390326 1 88091734 [T/C] rs12090659 1 88100939 [A/G] rs954653 1 88104575 [T/G] rs12137116 1 88109828 [A/G] exm-rs10873862 1 88112646 [T/G] rs17130094 1 88115934 [T/C] rs1490168 1 88117638 [A/G] rs1352652 1 88120252 [T/G] rs983332 1 88132380 [T/G] exm-rs983332 1 88132380 [T/G] rs6664882 1 88135930 [T/C] rs7536090 1 88161540 [A/C] rs10493799 1 88172960 [A/G] rs10518396 1 88173396 [T/G] rs10518397 1 88176714 [T/C] rs10493800 1 88177403 [A/G] rs10754317 1 88177836 [A/G] rs305464 1 88185216 [A/G] rs17130120 1 88185390 [T/C] rs6662386 1 88190037 [T/C] rs305457 1 88195672 [A/G] rs305449 1 88202768 [T/C] rs305444 1 88209341 [T/C] rs17467793 1 88209373 [T/G] rs17130136 1 88213827 [A/C] rs2503259 1 88231787 [T/C] rs305413 1 88232116 [A/G] rs6663225 1 88239954 [T/C] rs2503264 1 88242446 [T/G] rs6679195 1 88257998 [A/G] rs4655988 1 88260539 [T/C] rs2503273 1 88273790 [T/C] rs2491304 1 88317228 [A/G] rs6677939 1 88327760 [A/G] rs1413533 1 88346411 [T/C] rs2503243 1 88350912 [G/C] rs10489944 1 88392864 [A/G] rs2503257 1 88397483 [A/G] rs12741507 1 88402963 [T/G] rs1413527 1 88430037 [T/C] rs1413529 1 88445213 [T/C] rs4655860 1 88448150 [T/C] rs1537560 1 88465247 [T/C] rs7525663 1 88481128 [T/G] rs10922989 1 88484600 [T/C] rs4655999 1 88514365 [A/G] rs10923016 1 88516267 [A/G] rs4656007 1 88522282 [T/C] rs12028716 1 88547243 [T/C] rs10737721 1 88548801 [T/G] rs7516752 1 88562823 [T/C] rs12142415 1 88578657 [T/C] rs6428632 1 88593050 [T/C] rs1932760 1 88603134 [T/G] rs1336578 1 88610289 [T/C] rs2390441 1 88633737 [T/C] rs6694280 1 88638931 [A/G] rs4656019 1 88643972 [A/G] rs12567486 1 88645313 [T/C] rs12755168 1 88657007 [T/G] rs6699416 1 88661096 [A/G] rs10801875 1 88663791 [T/C] rs1336573 1 88668577 [T/C] rs10801877 1 88684970 [A/G] rs1932758 1 88685730 [T/C] rs10493805 1 88692175 [A/G] rs6428641 1 88709451 [A/G] rs6428642 1 88710048 [T/C] rs527607 1 88732523 [T/C] rs525002 1 88736621 [A/G] rs1295491 1 88740865 [T/C] exm2253578 1 88745673 [A/G] rs6679982 1 88757128 [T/C] rs566685 1 88767199 [A/G] rs54397 1 88776307 [T/G] rs572056 1 88783759 [T/C] rs480054 1 88791432 [A/G] exm-rs2179965 1 88802012 [A/G] rs4656031 1 88802972 [T/C] rs12749687 1 88803250 [C/G] rs766353 1 88821516 [A/G] rs926795 1 88823272 [T/C] rs12141716 1 88843632 [T/C] rs2808111 1 88844311 [A/G] rs400666 1 88855885 [T/C] rs4656043 1 88864082 [A/C] rs6696560 1 88889925 [T/C] rs12039248 1 88899860 [A/C] rs10801891 1 88906024 [A/G] rs10801892 1 88909218 [T/C] rs10923081 1 88950775 [T/C] rs306333 1 88966843 [T/C] rs12409611 1 88973472 [T/C] rs6674065 1 88986066 [T/C] rs6685860 1 89012137 [A/G] NR_110682 PKN2-AS1 Silent rs306298 1 89020534 [A/G] NR_110682 PKN2-AS1 Silent rs527953 1 89033757 [T/C] NR_110682 PKN2-AS1 Silent rs658980 1 89045338 [A/C] NR_110682 PKN2-AS1 Silent rs1760206 1 89069023 [T/C] NR_110682 PKN2-AS1 Silent rs10923117 1 89090212 [A/G] NR_110682 PKN2-AS1 Silent rs12041174 1 89107857 [T/C] NR_110682 PKN2-AS1 Silent rs574740 1 89115413 [T/C] NR_110682 PKN2-AS1 Silent rs7534720 1 89116300 [T/C] NR_110682 PKN2-AS1 Silent exm-rs6699417 1 89123443 [T/C] NR_110682 PKN2-AS1 Silent rs10801678 1 89128650 [A/C] NR_110682 PKN2-AS1 Silent rs12145922 1 89146234 [A/C] NR_110682 PKN2-AS1 Silent rs3806340 1 89148793 [T/G] NR_110682 PKN2-AS1 Silent kgp3073722 1 89151185 [A/G] NM_006256,NM_001320709,NM_001320708,NM_001320707 PKN2,PKN2,PKN2,PKN2 Silent,Silent,Silent,Silent kgp7362365 1 89151598 [T/G] NM_006256,NM_001320709,NM_001320708,NM_001320707 PKN2,PKN2,PKN2,PKN2 Silent,Silent,Silent,Silent exm72832 1 89206740 [A/G] NM_006256,NM_001320709,NM_001320708,NM_001320707 PKN2,PKN2,PKN2,PKN2 EXON Missense_M40V,Missense_M40V,Silent,Missense_M40V exm72833 1 89206774 [A/G] NM_006256,NM_001320709,NM_001320708,NM_001320707 PKN2,PKN2,PKN2,PKN2 EXON Missense_R51Q,Missense_R51Q,Silent,Missense_R51Q rs6704399 1 89222420 [A/G] NM_006256,NM_001320709,NM_001320708,NM_001320707 PKN2,PKN2,PKN2,PKN2 Silent,Silent,Silent,Silent exm2233923 1 89236120 [A/C] NM_006256,NM_001320709,NM_001320708,NM_001320707 PKN2,PKN2,PKN2,PKN2 EXON Missense_A197E,Missense_A197E,Missense_A40E,Missense_A197E rs9651072 1 89237556 [T/C] NM_006256,NM_001320709,NM_001320708,NM_001320707 PKN2,PKN2,PKN2,PKN2 EXON Synonymous_L327L,Synonymous_L327L,Synonymous_L170L,Synonymous_L327L rs10489887 1 89246897 [T/C] NM_006256,NM_001320709,NM_001320708,NM_001320707 PKN2,PKN2,PKN2,PKN2 Silent,Silent,Silent,Silent rs786911 1 89265248 [T/C] NM_006256,NM_001320709,NM_001320708,NM_001320707 PKN2,PKN2,PKN2,PKN2 Silent,Silent,Silent,Silent exm72859 1 89271181 [T/C] NM_006256,NM_001320709,NM_001320708,NM_001320707 PKN2,PKN2,PKN2,PKN2 EXON Synonymous_G501G,Synonymous_G485G,Synonymous_G344G,Synonymous_G453G exm72863 1 89271299 [T/C] NM_006256,NM_001320709,NM_001320708,NM_001320707 PKN2,PKN2,PKN2,PKN2 EXON Missense_P541S,Missense_P525S,Missense_P384S,Missense_P493S exm72871 1 89271574 [T/C] NM_006256,NM_001320709,NM_001320708,NM_001320707 PKN2,PKN2,PKN2,PKN2 EXON Synonymous_S559S,Synonymous_S543S,Synonymous_S402S,Synonymous_S511S exm72881 1 89273241 [A/G] NM_006256,NM_001320709,NM_001320708,NM_001320707 PKN2,PKN2,PKN2,PKN2 EXON Missense_Q655R,Missense_Q639R,Missense_Q498R,Missense_Q607R newrs6671949 1 89273287 [A/G] NM_006256,NM_001320709,NM_001320708,NM_001320707 PKN2,PKN2,PKN2,PKN2 EXON Synonymous_K670K,Synonymous_K654K,Synonymous_K513K,Synonymous_K622K rs786921 1 89286673 [A/G] NM_006256,NM_001320709,NM_001320708,NM_001320707 PKN2,PKN2,PKN2,PKN2 Silent,Silent,Silent,Silent exm72907 1 89299123 [T/C] NM_006256,NM_001320709,NM_001320708,NM_001320707 PKN2,PKN2,PKN2,PKN2 EXON Missense_W983R,Missense_W967R,Missense_W826R,Missense_W935R rs12133012 1 89302955 [T/C] rs6704470 1 89306817 [A/G] rs7534197 1 89322809 [T/C] NM_001514 GTF2B Silent exm72917 1 89322997 [A/G] NM_001514 GTF2B EXON Missense_R237C indel.4654 1 89325606 [D/I] NM_001514 GTF2B EXON exm2233931 1 89325904 [C/G] NM_001514 GTF2B EXON Missense_S108R rs13376108 1 89350741 [T/C] NM_001514 GTF2B Silent exm72932 1 89352980 [T/C] NM_001514 GTF2B EXON Missense_G30S rs10922501 1 89359789 [T/C] rs7524919 1 89372589 [A/G] rs7538497 1 89384717 [T/G] exm2263828 1 89388944 [A/C] NR_146185,NR_146183 KYAT3,KYAT3 Silent,Silent indel.4655 1 89401921 [D/I] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 EXON variant.4656 1 89401929 [T/C] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm72941 1 89408756 [T/C] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 EXON Silent,Silent,Missense_V248I,Missense_V378I,Missense_V378I,Missense_V412I,Missense_V248I,Silent,Missense_V412I exm72945 1 89409105 [A/G] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 EXON Silent,Silent,Synonymous_D217D,Synonymous_D347D,Synonymous_D347D,Synonymous_D381D,Synonymous_D217D,Silent,Synonymous_D381D exm72947 1 89414776 [A/T] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 EXON Silent,Silent,Missense_L216Q,Missense_L346Q,Missense_L346Q,Missense_L380Q,Missense_L216Q,Silent,Missense_L380Q exm72951 1 89414924 [A/G] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 EXON Silent,Silent,Missense_R167C,Missense_R297C,Missense_R297C,Missense_R331C,Missense_R167C,Silent,Missense_R331C exm72952 1 89414937 [A/C] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 EXON Silent,Silent,Missense_W162C,Missense_W292C,Missense_W292C,Missense_W326C,Missense_W162C,Silent,Missense_W326C rs1325923 1 89415576 [T/C] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2765524 1 89417695 [T/C] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm72956 1 89418744 [A/C] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2273659 1 89420851 [A/G] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 EXON Silent,Silent,Missense_F118S,Missense_F248S,Missense_F248S,Missense_F282S,Missense_F118S,Silent,Missense_F282S exm72963 1 89420907 [A/G] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 EXON Silent,Silent,Synonymous_A99A,Synonymous_A229A,Synonymous_A229A,Synonymous_A263A,Synonymous_A99A,Silent,Synonymous_A263A rs3738055 1 89426902 [A/G] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 EXON Silent,Silent,Synonymous_S81S,Synonymous_S211S,Synonymous_S211S,Synonymous_S245S,Synonymous_S81S,Silent,Synonymous_S245S exm1918330 1 89426919 [T/C] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 EXON Silent,Silent,Missense_D76N,Missense_D206N,Missense_D206N,Missense_D240N,Missense_D76N,Silent,Missense_D240N exm72965 1 89426928 [T/C] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 EXON Silent,Silent,Missense_I73V,Missense_I203V,Missense_I203V,Missense_I237V,Missense_I73V,Silent,Missense_I237V exm72970 1 89427086 [A/G] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 EXON Silent,Silent,Missense_T51I,Missense_T181I,Missense_T181I,Missense_T215I,Missense_T51I,Silent,Missense_T215I exm72972 1 89427095 [A/G] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 EXON Silent,Silent,Missense_I48T,Missense_I178T,Missense_I178T,Missense_I212T,Missense_I48T,Silent,Missense_I212T exm72981 1 89427821 [A/G] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 EXON Silent,Silent,Silent,Missense_L120P,Missense_L120P,Missense_L154P,Silent,Silent,Missense_L154P variant.4663 1 89430663 [T/C] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.4664 1 89434361 [A/G] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 EXON Silent,Silent,Silent,Nonsense_R65X,Nonsense_R65X,Nonsense_R99X,Silent,Silent,Nonsense_R99X variant.4665 1 89434399 [T/G] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 EXON Silent,Silent,Silent,Nonsense_S52X,Nonsense_S52X,Nonsense_S86X,Silent,Silent,Nonsense_S86X variant.4666 1 89435087 [T/C] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm72996 1 89435119 [T/C] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3 EXON Silent,Silent,Silent,Missense_R10Q,Missense_R10Q,Missense_R44Q,Silent,Silent,Missense_R44Q indel.4667 1 89448472 [I/D] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661,NM_019610,NM_001162536 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,RBMXL1,RBMXL1 EXON exm2233937 1 89448812 [T/G] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661,NM_019610,NM_001162536 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,RBMXL1,RBMXL1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D233A,Missense_D233A indel.4668 1 89449211 [D/I] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661,NM_019610,NM_001162536 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,RBMXL1,RBMXL1 EXON exm73045 1 89449218 [A/G] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661,NM_019610,NM_001162536 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,RBMXL1,RBMXL1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P98S,Missense_P98S exm73069 1 89453956 [G/C] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661,NM_019610,NM_001162536 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,RBMXL1,RBMXL1 EXON Silent,Silent,Silent,Silent,Silent,Missense_I26M,Silent,Silent,Missense_I26M,Silent,Silent rs6660788 1 89457587 [T/C] NR_146185,NR_146183,NM_001349450,NM_001349447,NM_001008662,NM_001349448,NM_001349449,NR_146184,NM_001008661,NM_019610,NM_001162536 KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,KYAT3,RBMXL1,RBMXL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7548065 1 89461232 [T/G] exm2268910 1 89467787 [T/C] rs10922537 1 89472592 [A/G] NR_135007,NM_018284,NM_001319179,NM_001319180 GBP3,GBP3,GBP3,GBP3 EXON Silent,Silent,Silent,Silent rs12085660 1 89472853 [T/C] NR_135007,NM_018284,NM_001319179,NM_001319180 GBP3,GBP3,GBP3,GBP3 EXON Silent,Silent,Silent,Silent rs2077694 1 89473134 [T/C] NR_135007,NM_018284,NM_001319179,NM_001319180 GBP3,GBP3,GBP3,GBP3 EXON Silent,Silent,Silent,Silent rs1409150 1 89473175 [T/C] NR_135007,NM_018284,NM_001319179,NM_001319180 GBP3,GBP3,GBP3,GBP3 EXON Silent,Silent,Silent,Silent exm73079 1 89473453 [A/G] NR_135007,NM_018284,NM_001319179,NM_001319180 GBP3,GBP3,GBP3,GBP3 EXON Silent,Missense_L581P,Missense_L502P,Missense_L447P newrs151210291 1 89473490 [A/G] NR_135007,NM_018284,NM_001319179,NM_001319180 GBP3,GBP3,GBP3,GBP3 EXON Silent,Nonsense_Q569X,Nonsense_Q490X,Nonsense_Q435X variant.4670 1 89473505 [A/G] NR_135007,NM_018284,NM_001319179,NM_001319180 GBP3,GBP3,GBP3,GBP3 EXON Silent,Nonsense_Q564X,Nonsense_Q485X,Nonsense_Q430X exm73084 1 89473522 [A/G] NR_135007,NM_018284,NM_001319179,NM_001319180 GBP3,GBP3,GBP3,GBP3 EXON Silent,Missense_V558A,Missense_V479A,Missense_V424A exm73085 1 89473532 [G/C] NR_135007,NM_018284,NM_001319179,NM_001319180 GBP3,GBP3,GBP3,GBP3 EXON Silent,Missense_Q555E,Missense_Q476E,Missense_Q421E indel.4671 1 89474621 [I/D] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON var_1_89474674 1 89474674 [A/G] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON Silent,Nonsense_Q539X,Nonsense_Q460X,Nonsense_Q405X,Nonsense_Q512X exm73092 1 89474818 [A/G] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON Silent,Missense_C491R,Missense_C412R,Missense_C357R,Missense_C464R exm73093 1 89475080 [A/G] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON Silent,Missense_I487T,Missense_I408T,Missense_I353T,Missense_I460T newrs12087251 1 89476589 [A/G] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON Silent,Nonsense_Q454X,Nonsense_Q375X,Nonsense_Q320X,Nonsense_Q427X exm2253585 1 89476602 [T/C] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON Silent,Synonymous_P449P,Synonymous_P370P,Synonymous_P315P,Synonymous_P422P indel.4676 1 89476647 [I/D] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON exm73128 1 89478867 [T/C] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 Silent,Silent,Silent,Silent,Silent exm73129 1 89478868 [A/G] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON Silent,Missense_R290C,Missense_R211C,Missense_R156C,Missense_R290C exm73139 1 89479027 [T/C] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON Silent,Missense_D237N,Missense_D158N,Missense_D103N,Missense_D237N exm73142 1 89479063 [A/G] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON Silent,Missense_R225W,Missense_R146W,Missense_R91W,Missense_R225W exm73143 1 89479074 [T/C] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON Silent,Missense_R221Q,Missense_R142Q,Missense_R87Q,Missense_R221Q rs4656078 1 89479074 [T/C] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON Silent,Missense_R221Q,Missense_R142Q,Missense_R87Q,Missense_R221Q exm73145 1 89479102 [A/G] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON Silent,Nonsense_Q212X,Nonsense_Q133X,Nonsense_Q78X,Nonsense_Q212X newrs3795543 1 89479758 [T/C] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 Silent,Silent,Silent,Silent,Silent exm73149 1 89479798 [T/C] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON Silent,Missense_E198G,Missense_E119G,Missense_E64G,Missense_E198G variant.4683 1 89480969 [T/C] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 Silent,Silent,Silent,Silent,Silent exm73168 1 89481013 [G/C] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON Silent,Missense_T92S,Missense_T13S,Silent,Missense_T92S rs7555039 1 89486037 [T/C] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 Silent,Silent,Silent,Silent,Silent exm73175 1 89486263 [A/G] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON Silent,Missense_R48C,Silent,Silent,Missense_R48C exm73181 1 89486344 [T/G] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON Silent,Missense_L21M,Silent,Silent,Missense_L21M exm2273660 1 89486370 [T/C] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON Silent,Missense_C12Y,Silent,Silent,Missense_C12Y exm73183 1 89486376 [A/G] NR_135007,NM_018284,NM_001319179,NM_001319180,NM_001319181 GBP3,GBP3,GBP3,GBP3,GBP3 EXON Silent,Missense_P10L,Silent,Silent,Missense_P10L rs12142922 1 89489915 [A/G] rs6683705 1 89490707 [A/G] rs12097848 1 89492154 [T/C] rs1074541 1 89509499 [A/G] rs6675866 1 89517810 [T/C] exm73186 1 89519060 [T/C] NM_002053 GBP1 EXON Missense_R586Q exm73187 1 89519063 [T/C] NM_002053 GBP1 EXON Missense_R585Q exm73190 1 89519075 [A/G] NM_002053 GBP1 EXON Missense_T581M newrs150057659 1 89520397 [A/C] NM_002053 GBP1 EXON Nonsense_E545X exm73198 1 89520405 [A/G] NM_002053 GBP1 EXON Missense_L542S indel.4686 1 89521705 [D/I] NM_002053 GBP1 EXON rs2390679 1 89522020 [A/C] NM_002053 GBP1 Silent rs4376712 1 89522512 [T/C] NM_002053 GBP1 Silent exm73234 1 89522536 [C/G] NM_002053 GBP1 Silent exm73235 1 89522537 [T/C] NM_002053 GBP1 EXON Synonymous_A385A exm73235-other 1 89522537 [T/C] NM_002053 GBP1 EXON Synonymous_A385A exm73239 1 89522619 [G/C] NM_002053 GBP1 EXON Missense_R358T exm73247 1 89522791 [T/C] NM_002053 GBP1 EXON Missense_V301I exm73249 1 89523674 [T/C] NM_002053 GBP1 Silent var_1_89523675 1 89523675 [A/G] NM_002053 GBP1 EXON Missense_R292C exm73258 1 89523802 [G/C] NM_002053 GBP1 EXON Missense_Q249H exm73263 1 89523911 [T/C] NM_002053 GBP1 EXON Missense_S213N exm73267 1 89524577 [C/G] NM_002053 GBP1 EXON Missense_G193A indel.4691 1 89524641 [I/D] NM_002053 GBP1 EXON exm73271 1 89524657 [G/C] NM_002053 GBP1 EXON Missense_E166D newrs192785479 1 89524698 [A/G] NM_002053 GBP1 EXON Nonsense_R153X exm73300 1 89525989 [A/G] NM_002053 GBP1 EXON Missense_T70M exm73316 1 89528914 [A/C] NM_002053 GBP1 EXON Missense_A2S rs17130722 1 89530860 [A/G] NM_002053 GBP1 EXON Silent rs10922563 1 89546803 [A/G] rs12740160 1 89551004 [A/G] rs1969962 1 89553601 [T/C] rs2031834 1 89555843 [A/G] exm73322 1 89573902 [T/G] NM_004120 GBP2 EXON Missense_Q578K exm73323 1 89573903 [G/C] NM_004120 GBP2 EXON Missense_I577M exm73328 1 89573947 [A/T] NM_004120 GBP2 EXON Missense_F563I exm73329 1 89573949 [T/C] NM_004120 GBP2 EXON Missense_G562E variant.4693 1 89575355 [A/C] NM_004120 GBP2 Silent exm73333 1 89575374 [T/C] NM_004120 GBP2 EXON Missense_A549T exm73338 1 89575413 [A/C] NM_004120 GBP2 EXON Missense_D536Y exm73342 1 89575547 [T/C] NM_004120 GBP2 EXON Missense_R491H exm73343 1 89575548 [A/G] NM_004120 GBP2 EXON Missense_R491C rs2026043 1 89575677 [T/C] NM_004120 GBP2 Silent rs7517828 1 89579615 [A/G] NM_004120 GBP2 Silent variant.4694 1 89579694 [T/C] NM_004120 GBP2 Silent exm73360 1 89579953 [T/C] NM_004120 GBP2 EXON Missense_V299I exm73363 1 89582675 [A/G] NM_004120 GBP2 EXON Missense_R290C exm73365 1 89582690 [G/C] NM_004120 GBP2 EXON Missense_P285A exm73366 1 89582702 [A/G] NM_004120 GBP2 EXON Missense_S281P variant.4697 1 89582756 [A/G] NM_004120 GBP2 EXON Nonsense_Q263X exm73368 1 89582810 [C/G] NM_004120 GBP2 EXON Missense_L245V newrs189899416 1 89582870 [A/G] NM_004120 GBP2 EXON Nonsense_R225X exm73375 1 89582914 [A/G] NM_004120 GBP2 EXON Missense_T210I variant.4699 1 89583255 [A/G] NM_004120 GBP2 Silent indel.4700 1 89583306 [D/I] NM_004120 GBP2 EXON exm73381 1 89583433 [T/C] NM_004120 GBP2 EXON Missense_R151Q rs1329120 1 89584565 [A/G] NM_004120 GBP2 Silent exm73385 1 89585878 [T/C] NM_004120 GBP2 EXON Missense_A138T exm73401 1 89587610 [T/C] NM_004120 GBP2 EXON Missense_I14V rs17130736 1 89592133 [T/C] exm73409 1 89597881 [G/C] NM_207398 GBP7 EXON Missense_S623T exm73411 1 89597921 [T/C] NM_207398 GBP7 EXON Missense_G610R exm73415 1 89598019 [T/C] NM_207398 GBP7 EXON Missense_R577Q variant.4703 1 89598020 [A/G] NM_207398 GBP7 EXON Nonsense_R577X exm73417 1 89598040 [A/G] NM_207398 GBP7 EXON Missense_S570L exm73419 1 89598073 [A/G] NM_207398 GBP7 EXON Missense_L559P variant.4704 1 89598940 [T/C] NM_207398 GBP7 Silent indel.4705 1 89598984 [I/D] NM_207398 GBP7 EXON exm73430 1 89599084 [C/G] NM_207398 GBP7 EXON Missense_Q507E rs10158415 1 89602884 [T/G] NM_207398 GBP7 Silent exm1918532 1 89613326 [A/C] NM_207398 GBP7 EXON Missense_G430V exm73454 1 89616013 [A/G] NM_207398 GBP7 EXON Missense_R291W exm1918541 1 89616127 [A/G] NM_207398 GBP7 EXON Nonsense_R253X exm73458 1 89616171 [T/C] NM_207398 GBP7 EXON Missense_R238Q exm1918542 1 89616189 [T/C] NM_207398 GBP7 EXON Missense_K232R exm73461 1 89616192 [T/C] NM_207398 GBP7 EXON Missense_Q231R newrs150032762 1 89616216 [T/C] NM_207398 GBP7 EXON Nonsense_W223X variant.4712 1 89616259 [T/C] NM_207398 GBP7 Silent variant.4713 1 89616260 [T/C] NM_207398 GBP7 Silent exm73471 1 89618035 [A/G] NM_207398 GBP7 EXON Nonsense_R181X exm73489 1 89630543 [T/C] NM_207398 GBP7 Silent rs2893089 1 89630721 [T/G] NM_207398 GBP7 Silent rs616098 1 89632854 [A/G] NM_207398 GBP7 Silent exm73490 1 89637454 [T/C] NM_207398 GBP7 EXON Missense_M55I exm73497 1 89637504 [C/G] NM_207398 GBP7 EXON Missense_V39L indel.4718 1 89637553 [I/D] NM_207398 GBP7 EXON exm73503 1 89637603 [A/G] NM_207398 GBP7 EXON Missense_H6Y exm73506 1 89650945 [A/G] NM_052941 GBP4 EXON Missense_R639C indel.4720 1 89650967 [I/D] NM_052941 GBP4 EXON indel.4721 1 89650970 [D/I] NM_052941 GBP4 EXON variant.4722 1 89651046 [A/C] NM_052941 GBP4 EXON Nonsense_L605X exm73514 1 89652071 [T/C] NM_052941 GBP4 EXON Missense_E551G exm73516 1 89652078 [A/T] NM_052941 GBP4 EXON Missense_L549M exm73518 1 89652087 [T/C] NM_052941 GBP4 EXON Missense_E546K exm73528 1 89652204 [A/G] NM_052941 GBP4 EXON Missense_R507W exm73529 1 89652208 [T/C] NM_052941 GBP4 EXON Synonymous_A505A exm73531 1 89652700 [C/G] NM_052941 GBP4 EXON Missense_G499A exm73534 1 89654300 [A/G] NM_052941 GBP4 EXON Missense_W459R indel.4725 1 89654348 [D/I] NM_052941 GBP4 EXON exm73538 1 89654395 [T/C] NM_052941 GBP4 EXON Missense_R427Q indel.4726 1 89654400 [I/D] NM_052941 GBP4 EXON indel.4727 1 89654460 [I/D] NM_052941 GBP4 EXON exm73541 1 89655720 [T/C] NM_052941 GBP4 Silent variant.4729 1 89655721 [T/C] NM_052941 GBP4 EXON Synonymous_V399V indel.4730 1 89655723 [I/D] NM_052941 GBP4 EXON exm73555 1 89655915 [A/G] NM_052941 GBP4 EXON Nonsense_Q335X exm73567 1 89657124 [A/G] NM_052941 GBP4 EXON Missense_R246W exm73568 1 89657129 [T/C] NM_052941 GBP4 EXON Missense_R244Q variant.4732 1 89657191 [T/C] NM_052941 GBP4 Silent exm2233944 1 89659086 [T/C] NM_052941 GBP4 EXON Missense_K125E variant.4734 1 89660980 [T/C] NM_052941 GBP4 EXON Synonymous_K121K exm73585 1 89660988 [A/C] NM_052941 GBP4 EXON Missense_V119L exm2233945 1 89661089 [A/G] NM_052941 GBP4 EXON Missense_T85M rs650448 1 89661228 [T/G] NM_052941 GBP4 Silent exm73592 1 89662813 [T/C] NM_052941 GBP4 EXON Missense_R72H exm1918579 1 89662871 [T/C] NM_052941 GBP4 EXON Missense_V53M exm73597 1 89662928 [T/C] NM_052941 GBP4 EXON Missense_E34K exm73599 1 89662987 [A/C] NM_052941 GBP4 EXON Missense_G14V rs545729 1 89672622 [A/G] rs628709 1 89673196 [A/C] rs611596 1 89721862 [T/C] exm73602 1 89726398 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_V584I,Missense_V584I variant.4736 1 89726432 [A/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Synonymous_H572H,Synonymous_H572H exm2253588 1 89726438 [A/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Synonymous_L570L,Synonymous_L570L exm73612 1 89728008 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_M514I,Missense_M514I variant.4738 1 89728365 [T/C] NM_001134486,NM_052942 GBP5,GBP5 Silent,Silent indel.4739 1 89728373 [I/D] NM_001134486,NM_052942 GBP5,GBP5 EXON exm73620 1 89728437 [A/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_S465F,Missense_S465F exm73627 1 89729439 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_E448K,Missense_E448K exm73630 1 89729478 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_I435V,Missense_I435V exm73632 1 89729504 [T/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_S426Y,Missense_S426Y exm73634 1 89729564 [A/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_S406L,Missense_S406L exm2233947 1 89730384 [T/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_F378L,Missense_F378L exm73651 1 89730555 [C/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_E321D,Missense_E321D exm73652 1 89730556 [A/T] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_E321V,Missense_E321V exm73653 1 89730557 [C/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_E321Q,Missense_E321Q rs9628688 1 89730723 [T/C] NM_001134486,NM_052942 GBP5,GBP5 Silent,Silent newrs140405391 1 89732028 [T/C] NM_001134486,NM_052942 GBP5,GBP5 Silent,Silent exm73667 1 89732071 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_M276V,Missense_M276V exm73672 1 89732110 [A/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Nonsense_Q263X,Nonsense_Q263X exm73673 1 89732194 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_I235V,Missense_I235V indel.4748 1 89732213 [I/D] NM_001134486,NM_052942 GBP5,GBP5 EXON indel.4749 1 89732677 [D/I] NM_001134486,NM_052942 GBP5,GBP5 EXON exm73683 1 89732754 [T/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_S171R,Missense_S171R exm73689 1 89733172 [A/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_A119V,Missense_A119V exm73692 1 89734412 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Synonymous_K106K,Synonymous_K106K newrs147816214 1 89734412 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Synonymous_K106K,Synonymous_K106K exm73695 1 89734459 [T/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_H91N,Missense_H91N exm1918617 1 89734522 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_T70A,Missense_T70A exm73698 1 89734539 [A/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_G64V,Missense_G64V variant.4753 1 89735044 [T/C] NM_001134486,NM_052942 GBP5,GBP5 Silent,Silent exm73699 1 89735081 [T/A] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_Y53F,Missense_Y53F exm73700 1 89735085 [A/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_S52P,Missense_S52P exm73703 1 89735096 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_R48H,Missense_R48H exm73706 1 89735135 [A/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_T35M,Missense_T35M rs3806338 1 89735314 [A/G] NM_001134486,NM_052942 GBP5,GBP5 Silent,Silent rs687059 1 89746017 [A/G] rs10922605 1 89759219 [A/G] rs7552687 1 89772056 [A/C] rs10801723 1 89776233 [A/G] rs10801724 1 89779051 [T/G] rs1117177 1 89787286 [A/G] rs7530906 1 89789301 [T/C] exm2264870 1 89803882 [A/G] rs6672564 1 89817783 [T/C] rs6428523 1 89822845 [A/C] exm73715 1 89834182 [A/C] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_N24K,Silent exm1918654 1 89834223 [T/C] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_V38A,Silent exm73716 1 89834252 [T/C] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_R48C,Silent exm73719 1 89835123 [T/C] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_T70M,Silent exm73724 1 89835219 [A/G] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_G102D,Silent exm1918660 1 89843663 [T/G] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_G107V,Silent exm73732 1 89844035 [T/C] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_V163A,Missense_V33A exm73733 1 89844062 [T/G] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_F172C,Missense_F42C exm73734 1 89844088 [T/C] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_R181W,Missense_R51W exm1918661 1 89844089 [A/G] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_R181Q,Missense_R51Q exm73736 1 89844154 [A/G] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_A203T,Missense_A73T indel.4756 1 89846084 [D/I] NM_198460,NM_001320257 GBP6,GBP6 EXON variant.4757 1 89846103 [T/C] NM_198460,NM_001320257 GBP6,GBP6 EXON Nonsense_Q262X,Nonsense_Q132X exm73750 1 89846152 [T/C] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_T278I,Missense_T148I exm73754 1 89847286 [T/C] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_A302V,Missense_A172V exm73755 1 89847372 [T/G] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_A331S,Missense_A201S exm73756 1 89847411 [T/C] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_L344F,Missense_L214F exm2253591 1 89847425 [A/G] NM_198460,NM_001320257 GBP6,GBP6 EXON Synonymous_T348T,Synonymous_T218T rs4658146 1 89847444 [A/G] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_M355V,Missense_M225V exm73766 1 89847531 [A/G] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_M384V,Missense_M254V exm1918678 1 89848293 [A/C] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_A408D,Missense_A278D exm73771 1 89848352 [T/G] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_V428F,Missense_V298F exm73773 1 89848373 [T/C] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_Y435H,Missense_Y305H exm73775 1 89848388 [A/G] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_E440K,Missense_E310K exm73781 1 89849256 [A/G] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_E471K,Missense_E341K rs928655 1 89849574 [A/G] NM_198460,NM_001320257 GBP6,GBP6 Silent,Silent exm73787 1 89849657 [T/C] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_R492W,Missense_R362W indel.4759 1 89849685 [I/D] NM_198460,NM_001320257 GBP6,GBP6 EXON exm73791 1 89849751 [A/G] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_R523H,Missense_R393H exm73795 1 89850843 [A/G] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_A573T,Missense_A443T exm1918684 1 89850867 [A/G] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_M581V,Missense_M451V exm1918688 1 89850972 [C/G] NM_198460,NM_001320257 GBP6,GBP6 EXON Missense_G616R,Missense_G486R variant.4760 1 89850997 [A/C] NM_198460,NM_001320257 GBP6,GBP6 EXON Nonsense_S624X,Nonsense_S494X rs17130799 1 89858643 [T/C] rs11577456 1 89899019 [A/G] rs10922643 1 89899285 [A/G] rs17130817 1 89933828 [T/C] rs6692501 1 89935101 [A/G] rs10493826 1 89970163 [T/C] rs359937 1 89982719 [T/C] rs359935 1 89983184 [A/G] rs716833 1 89995069 [A/G] NM_001134476 LRRC8B Silent rs9428043 1 90005132 [T/C] NM_001134476 LRRC8B Silent rs922107 1 90022796 [A/G] NM_001134476 LRRC8B Silent rs922106 1 90025519 [A/C] NM_001134476,NM_015350 LRRC8B,LRRC8B Silent,Silent exm73818 1 90048531 [A/G] NM_001134476,NM_015350 LRRC8B,LRRC8B EXON Missense_V108I,Missense_V108I exm73821 1 90048615 [A/G] NM_001134476,NM_015350 LRRC8B,LRRC8B EXON Missense_S136G,Missense_S136G variant.4761 1 90048984 [T/C] NM_001134476,NM_015350 LRRC8B,LRRC8B EXON Synonymous_L259L,Synonymous_L259L exm73834 1 90049071 [A/G] NM_001134476,NM_015350 LRRC8B,LRRC8B EXON Missense_D288N,Missense_D288N exm73836 1 90049111 [A/G] NM_001134476,NM_015350 LRRC8B,LRRC8B EXON Missense_R301H,Missense_R301H exm73843 1 90049462 [A/C] NM_001134476,NM_015350 LRRC8B,LRRC8B EXON Missense_A418D,Missense_A418D exm73851 1 90049615 [A/G] NM_001134476,NM_015350 LRRC8B,LRRC8B EXON Missense_R469H,Missense_R469H exm73855 1 90049720 [A/G] NM_001134476,NM_015350 LRRC8B,LRRC8B EXON Missense_R504H,Missense_R504H indel.4764 1 90058492 [I/D] NM_001134476,NM_015350 LRRC8B,LRRC8B EXON rs6685584 1 90067602 [T/C] rs1215547 1 90072888 [T/C] rs1215512 1 90087511 [A/C] rs10754283 1 90112431 [T/G] NM_032270 LRRC8C Silent rs1320563 1 90121032 [A/G] NM_032270 LRRC8C Silent rs12406924 1 90127075 [T/G] NM_032270 LRRC8C Silent rs10922690 1 90132069 [A/G] NM_032270 LRRC8C Silent rs6675409 1 90134392 [A/G] NM_032270 LRRC8C Silent rs4658309 1 90143228 [A/G] NM_032270 LRRC8C Silent rs17130851 1 90145252 [A/G] NM_032270 LRRC8C Silent indel.4766 1 90152103 [D/I] NM_032270 LRRC8C EXON exm1918810 1 90178335 [T/C] NM_032270 LRRC8C EXON Missense_S69L exm73898 1 90178362 [T/C] NM_032270 LRRC8C EXON Missense_T78I exm73917 1 90179041 [A/C] NM_032270 LRRC8C EXON Missense_K304N exm73932 1 90179420 [A/G] NM_032270 LRRC8C EXON Missense_I431V exm73934 1 90179456 [A/G] NM_032270 LRRC8C EXON Missense_I443V exm73937 1 90179529 [T/A] NM_032270 LRRC8C EXON Missense_D467V exm73938 1 90179532 [A/G] NM_032270 LRRC8C EXON Missense_N468S exm1918818 1 90179652 [A/C] NM_032270 LRRC8C EXON Missense_P508H exm73948 1 90179703 [T/G] NM_032270 LRRC8C EXON Missense_L525R exm73953 1 90179843 [A/G] NM_032270 LRRC8C EXON Missense_I572V exm73960 1 90180119 [T/C] NM_032270 LRRC8C EXON Missense_R664C exm73961 1 90180132 [A/G] NM_032270 LRRC8C EXON Missense_S668N newrs141148352 1 90180215 [T/C] NM_032270 LRRC8C EXON Nonsense_R696X exm73968 1 90180452 [T/C] NM_032270 LRRC8C EXON Missense_R775W exm1918821 1 90180453 [A/G] NM_032270 LRRC8C EXON Missense_R775Q exm73970 1 90180529 [A/G] NM_032270 LRRC8C EXON Missense_M800I rs17130862 1 90186166 [T/C] rs2224652 1 90196552 [T/C] rs12727736 1 90210821 [A/G] rs473412 1 90227649 [A/G] rs10922710 1 90227682 [T/C] rs4658318 1 90232180 [T/C] rs7535521 1 90256113 [A/G] rs6684610 1 90265414 [T/C] rs1009964 1 90265971 [T/G] rs6659997 1 90272372 [T/C] exm2268721 1 90278842 [T/C] rs4658335 1 90304024 [A/G] NM_001134479,NM_018103 LRRC8D,LRRC8D Silent,Silent rs7542239 1 90312742 [A/G] NM_001134479,NM_018103 LRRC8D,LRRC8D Silent,Silent rs4658340 1 90327555 [T/G] NM_001134479,NM_018103 LRRC8D,LRRC8D Silent,Silent rs12095496 1 90336244 [T/C] NM_001134479,NM_018103 LRRC8D,LRRC8D Silent,Silent rs2816853 1 90339193 [T/C] NM_001134479,NM_018103 LRRC8D,LRRC8D Silent,Silent rs2816858 1 90353008 [T/C] NM_001134479,NM_018103 LRRC8D,LRRC8D Silent,Silent rs2816849 1 90373067 [A/G] NM_001134479,NM_018103 LRRC8D,LRRC8D Silent,Silent rs2816848 1 90373141 [T/C] NM_001134479,NM_018103 LRRC8D,LRRC8D Silent,Silent exm73989 1 90398839 [A/G] NM_001134479,NM_018103 LRRC8D,LRRC8D EXON Missense_G71E,Missense_G71E exm73991 1 90398847 [A/G] NM_001134479,NM_018103 LRRC8D,LRRC8D EXON Missense_E74K,Missense_E74K exm73992 1 90398850 [A/G] NM_001134479,NM_018103 LRRC8D,LRRC8D EXON Missense_V75I,Missense_V75I indel.4768 1 90399558 [I/D] NM_001134479,NM_018103 LRRC8D,LRRC8D EXON exm74019 1 90400069 [A/G] NM_001134479,NM_018103 LRRC8D,LRRC8D EXON Missense_G481E,Missense_G481E exm74042 1 90400944 [A/C] NM_001134479,NM_018103 LRRC8D,LRRC8D EXON Missense_K773Q,Missense_K773Q exm74046 1 90401062 [A/G] NM_001134479,NM_018103 LRRC8D,LRRC8D EXON Missense_R812H,Missense_R812H rs2704004 1 90451209 [A/G] rs2816866 1 90455415 [T/C] exm74066 1 90470722 [A/G] NM_182975,NM_181781,NM_001320185,NM_182976 ZNF326,ZNF326,ZNF326,ZNF326 EXON Missense_Y43C,Silent,Missense_Y43C,Missense_Y43C exm74090 1 90475762 [A/C] NM_181781,NM_001320185,NM_182976 ZNF326,ZNF326,ZNF326 EXON Missense_P38Q,Missense_P155Q,Missense_P244Q newrs149719190 1 90478723 [T/C] NM_181781,NM_001320185,NM_182976 ZNF326,ZNF326,ZNF326 EXON Nonsense_R79X,Nonsense_R196X,Nonsense_R285X exm74104 1 90482944 [A/G] NM_181781,NM_001320185,NM_182976 ZNF326,ZNF326,ZNF326 EXON Missense_E126G,Missense_E243G,Missense_E332G exm74109 1 90484321 [A/G] NM_181781,NM_001320185,NM_182976 ZNF326,ZNF326,ZNF326 EXON Missense_I178M,Missense_I295M,Missense_I384M exm74120 1 90493067 [A/G] NM_181781,NM_001320185,NM_182976 ZNF326,ZNF326,ZNF326 EXON Missense_E313G,Missense_E430G,Missense_E519G exm74122 1 90493072 [T/G] NM_181781,NM_001320185,NM_182976 ZNF326,ZNF326,ZNF326 EXON Missense_V315L,Missense_V432L,Missense_V521L rs954145 1 90498540 [T/G] NM_181781,NM_001320185,NM_182976 ZNF326,ZNF326,ZNF326 EXON Silent,Silent,Silent rs12079836 1 90520618 [A/G] rs12134621 1 90532229 [T/G] rs10801783 1 90532256 [A/C] rs7542860 1 90532766 [T/C] rs6663620 1 90535344 [T/G] exm2260822 1 90537317 [A/G] rs2813746 1 90539764 [A/C] rs17130964 1 90540501 [T/C] rs2703999 1 90540565 [A/G] rs2772337 1 90559504 [T/C] rs10922761 1 90568071 [A/C] rs1329644 1 90575147 [T/C] rs7552852 1 90597198 [T/C] rs12038587 1 90598021 [A/G] rs6428576 1 90607718 [A/G] rs12145344 1 90612804 [T/C] rs11800888 1 90620142 [T/G] rs10157978 1 90624605 [A/G] rs3922967 1 90626396 [T/C] rs4370755 1 90631849 [T/C] rs4388690 1 90640945 [A/C] rs6428580 1 90642254 [A/G] rs12036175 1 90652038 [T/G] rs10922802 1 90652231 [A/G] rs4626871 1 90659565 [T/C] rs17130997 1 90664986 [A/G] rs6687644 1 90685501 [A/G] rs12085161 1 90704176 [T/C] rs4507991 1 90739930 [T/C] exm2268722 1 90741571 [T/G] rs6689390 1 90759618 [A/G] rs7517905 1 90770566 [T/C] rs4446947 1 90781761 [A/G] rs7550206 1 90783440 [A/G] rs4565695 1 90784635 [A/G] rs7532538 1 90785933 [T/C] rs4453022 1 90790141 [T/C] rs7549113 1 90791906 [A/G] rs7518543 1 90801258 [T/C] rs6674478 1 90805127 [A/G] rs12141568 1 90816109 [A/C] rs10801803 1 90818872 [A/G] rs10801804 1 90819317 [T/C] rs6689027 1 90819447 [A/G] rs7546709 1 90824652 [T/C] rs12127465 1 90835677 [T/C] rs9428050 1 90836739 [A/C] rs17131031 1 90854258 [A/G] rs10801810 1 90860965 [A/C] rs2202787 1 90872387 [T/G] rs17131041 1 90873828 [T/C] exm-rs2136093 1 90875888 [T/C] rs699546 1 90901199 [T/G] rs1337576 1 90916072 [A/G] rs506368 1 90920022 [A/G] rs578509 1 90925451 [A/G] rs1337575 1 90939247 [T/C] rs699533 1 90942911 [A/G] exm-rs2390582 1 90943907 [A/G] rs699531 1 90945085 [A/G] rs1591670 1 90949962 [A/C] rs699526 1 90952184 [A/G] rs12726749 1 90953104 [T/C] rs693260 1 90965565 [T/C] rs527402 1 90973861 [A/G] rs699521 1 90980866 [T/C] exm2260824 1 90992380 [T/C] rs1336874 1 91014198 [T/C] rs12078288 1 91045387 [T/C] rs12124829 1 91049339 [T/C] rs10922882 1 91053707 [T/C] rs6690040 1 91061122 [A/G] rs10801819 1 91072248 [T/G] rs1943448 1 91077772 [A/G] rs4233429 1 91099903 [T/G] rs2797293 1 91107981 [A/G] rs12072986 1 91111887 [T/C] rs2970544 1 91113178 [T/C] rs4658083 1 91122149 [A/G] rs12354259 1 91136463 [A/G] rs10922899 1 91144055 [T/C] rs10493843 1 91148357 [A/G] rs6679774 1 91149594 [A/C] rs6428597 1 91154551 [A/G] rs10493842 1 91158104 [T/C] rs7519925 1 91165138 [T/C] exm74135 1 91178036 [C/G] NM_020063 BARHL2 EXON Missense_A333P 1KG_1_91180300 1 91180300 [D/I] NM_020063 BARHL2 EXON exm74149 1 91182188 [T/C] NM_020063 BARHL2 EXON Missense_E189K exm74151 1 91182214 [T/C] NM_020063 BARHL2 EXON Missense_E180G exm74162 1 91182472 [T/G] NM_020063 BARHL2 EXON Missense_P94Q exm74169 1 91182591 [A/C] NM_020063 BARHL2 EXON Missense_E54D exm74170 1 91182628 [T/C] NM_020063 BARHL2 EXON Missense_D42G indel.4771 1 91182665 [I/D] NM_020063 BARHL2 EXON rs10518493 1 91188196 [T/C] rs12089815 1 91189933 [A/G] rs1342780 1 91198676 [A/C] rs10922910 1 91199862 [T/G] rs10801825 1 91206170 [A/C] rs6656775 1 91219359 [A/G] rs4658172 1 91225594 [T/C] rs3843305 1 91243376 [A/G] rs698274 1 91244177 [A/G] rs3904678 1 91251325 [A/G] NR_135038 LOC105378853 Silent rs10922924 1 91252863 [A/G] NR_135038 LOC105378853 Silent rs1725375 1 91255484 [A/G] NR_135038 LOC105378853 Silent rs1725390 1 91258572 [A/C] NR_135038 LOC105378853 Silent rs1725384 1 91260076 [T/C] NR_135038 LOC105378853 Silent rs1997155 1 91265543 [T/G] NR_135038 LOC105378853 Silent rs1335718 1 91279915 [T/C] NR_135038 LOC105378853 Silent exm2268723 1 91279915 [T/C] NR_135038 LOC105378853 Silent rs3843306 1 91288130 [T/A] NR_135038 LOC105378853 Silent rs1358156 1 91293921 [T/C] NR_135038 LOC105378853 Silent rs1188931 1 91308396 [A/C] NR_135038,NR_147930,NR_147931 LOC105378853,LOC105378853,LOC105378853 Silent,Silent,Silent rs12046172 1 91325323 [T/G] kgp831653 1 91328827 [A/C] kgp5731474 1 91330027 [T/C] rs12726261 1 91380440 [T/C] exm74179 1 91382455 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Missense_R73Q,Missense_R73Q,Missense_R1295Q exm74182 1 91382477 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Missense_I66V,Missense_I66V,Missense_I1288V exm74189 1 91403051 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_M1227V exm74194 1 91403290 [A/G] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_L1147P exm74203 1 91403431 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_R1100H exm74204 1 91403440 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_N1097S exm2233966 1 91403464 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_Y1089C exm74208 1 91403530 [A/G] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_T1067M exm74217 1 91404256 [A/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_E885D exm74218 1 91404303 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_T870A exm74219 1 91404308 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_D868G exm74226 1 91404530 [A/G] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_A794V exm74229 1 91404576 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_S779G exm74230 1 91404617 [T/G] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_E765A exm74231 1 91404671 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_Y747C exm74232 1 91404692 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_Y740C exm74234 1 91404710 [T/G] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_A734E exm74238 1 91404768 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_V715I exm74241 1 91404792 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_K707E exm74244 1 91404863 [C/G] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_R683T exm74255 1 91405215 [T/A] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_T566S exm74256 1 91405217 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_K565R exm74257 1 91405245 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_M556V exm74279 1 91405961 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_K317R exm74281 1 91405998 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_E305K exm74283 1 91406006 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_R302H exm74292 1 91406186 [A/G] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_T242M exm74294 1 91406247 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_V222I exm74300 1 91406444 [T/A] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_K156M exm2233968 1 91406643 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_G90S exm74309 1 91406775 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_N46D exm74313 1 91406859 [T/C] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 EXON Silent,Silent,Missense_V18M rs358689 1 91444533 [A/G] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 Silent,Silent,Silent rs358684 1 91456926 [A/G] NM_032186,NM_016620,NM_201269 ZNF644,ZNF644,ZNF644 Silent,Silent,Silent rs355644 1 91504195 [T/C] rs164992 1 91517927 [T/C] rs469772 1 91530305 [T/C] rs164989 1 91536485 [T/C] rs164911 1 91550812 [T/G] rs12723509 1 91550896 [A/G] rs11582243 1 91556690 [T/C] rs10922953 1 91558057 [A/G] rs164983 1 91566457 [T/C] exm-rs164898 1 91569689 [A/G] rs164898 1 91569689 [A/G] rs165291 1 91581942 [T/C] rs240504 1 91586000 [T/C] rs346994 1 91602551 [A/G] rs347004 1 91605491 [A/G] rs347027 1 91618766 [A/G] rs347028 1 91618793 [T/C] rs613217 1 91620228 [A/G] rs969618 1 91621607 [A/G] rs983040 1 91623097 [T/C] rs613176 1 91627098 [T/C] rs404716 1 91628655 [A/G] rs445014 1 91632172 [T/C] rs620760 1 91633434 [T/C] rs1454328 1 91647150 [A/G] rs6696698 1 91658368 [A/G] rs648094 1 91658920 [T/G] rs10801844 1 91659939 [T/C] rs2089432 1 91661385 [T/C] rs615020 1 91716979 [T/C] rs681589 1 91730806 [T/C] NM_001017975 HFM1 Silent variant.4776 1 91731572 [A/G] NM_001017975 HFM1 Silent exm74362 1 91739270 [T/C] NM_001017975 HFM1 EXON Synonymous_K1257K exm74373 1 91742205 [A/G] NM_001017975 HFM1 EXON Missense_P1190S exm74375 1 91742541 [T/C] NM_001017975 HFM1 EXON Missense_C1157Y exm74376 1 91742558 [T/A] NM_001017975 HFM1 EXON Missense_H1151Q rs10801851 1 91747006 [T/C] NM_001017975 HFM1 Silent rs1158437 1 91774858 [T/G] NM_001017975 HFM1 Silent exm74380 1 91778984 [T/G] NM_001017975 HFM1 EXON Missense_T1105P indel.4779 1 91781720 [D/I] NM_001017975 HFM1 EXON exm74414 1 91782031 [T/C] NM_001017975 HFM1 EXON Missense_I939V rs281997 1 91784088 [A/G] NM_001017975 HFM1 Silent exm74419 1 91784916 [T/C] NM_001017975 HFM1 EXON Missense_I872V rs282000 1 91785583 [T/C] NM_001017975 HFM1 Silent exm74421 1 91788735 [T/C] NM_001017975 HFM1 EXON Missense_K817E exm74425 1 91790279 [C/G] NM_001017975 HFM1 EXON Missense_V794L exm74426 1 91790302 [T/C] NM_001017975 HFM1 EXON Nonsense_W786X rs281973 1 91794248 [A/G] NM_001017975 HFM1 Silent rs3893101 1 91794494 [A/G] NM_001017975 HFM1 Silent exm74427 1 91809014 [T/C] NM_001017975 HFM1 EXON Missense_D770N exm74432 1 91816343 [A/G] NM_001017975 HFM1 EXON Nonsense_R720X indel.4786 1 91818709 [I/D] NM_001017975 HFM1 EXON rs282057 1 91821503 [A/G] NM_001017975 HFM1 Silent rs12129878 1 91831097 [T/C] NM_001017975 HFM1 Silent exm74445 1 91840949 [A/C] NM_001017975 HFM1 EXON Missense_A551S exm74450 1 91841203 [T/G] NM_001017975 HFM1 EXON Missense_K493Q exm74455 1 91843626 [T/C] NM_001017975 HFM1 EXON Missense_M451V exm74459 1 91843683 [T/C] NM_001017975 HFM1 EXON Missense_M432V variant.4790 1 91844620 [T/C] NM_001017975 HFM1 EXON Synonymous_P386P exm74474 1 91845754 [T/C] NM_001017975 HFM1 EXON Missense_T305A exm1927669 1 91845778 [T/A] NM_001017975 HFM1 EXON Missense_R297W rs17131418 1 91849219 [T/C] NM_001017975 HFM1 Silent exm74483 1 91850744 [A/G] NM_001017975 HFM1 EXON Missense_P268S exm74495 1 91851269 [T/C] NM_001017975 HFM1 EXON Missense_Y206C exm74496 1 91851282 [T/C] NM_001017975 HFM1 EXON Missense_K202E variant.4796 1 91859768 [A/G] NM_001017975 HFM1 EXON Nonsense_Q126X exm74505 1 91859795 [T/C] NM_001017975 HFM1 EXON Missense_I117V exm74506 1 91859801 [A/G] NM_001017975 HFM1 EXON Missense_S115P exm2233972 1 91859909 [T/C] NM_001017975 HFM1 EXON Missense_E79K exm74514 1 91861916 [A/G] NM_001017975 HFM1 EXON Missense_P40S exm74521 1 91866635 [A/G] NM_001017975 HFM1 EXON Missense_L2P rs11166001 1 91872374 [T/C] exm2268912 1 91885970 [T/C] rs574364 1 91885970 [T/C] rs11166498 1 91895432 [A/G] rs519244 1 91903413 [T/C] exm2253714 1 91916880 [A/G] rs3851270 1 91917448 [T/C] rs12060889 1 91919058 [T/G] rs7540260 1 91919533 [A/G] rs12058802 1 91923254 [A/G] rs10874743 1 91952120 [T/C] rs10518494 1 91959859 [T/C] exm74528 1 91967385 [A/G] NM_001134419,NM_003503,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_A38T,Missense_A38T,Missense_A38T exm74529 1 91967386 [A/C] NM_001134419,NM_003503,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_A38E,Missense_A38E,Missense_A38E exm74548 1 91977394 [G/C] NM_001134419,NM_003503,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_F162L,Missense_F162L,Missense_F162L exm74554 1 91978666 [A/G] NM_001134419,NM_003503,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_I208M,Missense_I208M,Missense_I208M exm74555 1 91978677 [A/C] NM_001134419,NM_003503,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_K212T,Missense_K212T,Missense_K212T exm74556 1 91978730 [A/G] NM_001134419,NM_003503,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_I230V,Missense_I230V,Missense_I230V exm74557 1 91978842 [T/C] NM_001134419,NM_003503,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_I267T,Missense_I267T,Missense_I267T rs483532 1 91980447 [A/G] NM_001134419,NM_003503,NM_001134420 CDC7,CDC7,CDC7 EXON Synonymous_T330T,Synonymous_T330T,Synonymous_T330T exm74561 1 91980455 [T/C] NM_001134419,NM_003503,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_M333T,Missense_M333T,Missense_M333T exm74562 1 91980461 [A/G] NM_001134419,NM_003503,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_S335N,Missense_S335N,Missense_S335N exm2233973 1 91985828 [A/G] NM_001134419,NM_003503,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_K441R,Missense_K441R,Missense_K441R rs6688261 1 91987034 [T/C] NM_001134419,NM_003503,NM_001134420 CDC7,CDC7,CDC7 Silent,Silent,Silent rs10493850 1 91988009 [A/G] NM_001134419,NM_003503,NM_001134420 CDC7,CDC7,CDC7 Silent,Silent,Silent indel.4803 1 91989749 [D/I] NM_001134419,NM_003503,NM_001134420 CDC7,CDC7,CDC7 EXON exm74573 1 91989979 [A/G] NM_001134419,NM_003503,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_D571G,Missense_D571G,Missense_D571G rs745731 1 92011467 [T/G] rs1949009 1 92016653 [T/C] rs6681073 1 92022597 [T/G] rs7536573 1 92030967 [A/C] rs11164953 1 92031009 [T/C] rs11164955 1 92032179 [A/G] rs925191 1 92037984 [A/G] rs10874794 1 92045585 [T/C] rs4658234 1 92048779 [T/G] rs12059556 1 92055995 [T/C] rs4658241 1 92066310 [T/C] rs4658244 1 92069188 [A/G] rs1041159 1 92076523 [T/C] exm-rs1192415 1 92077097 [A/G] rs1192419 1 92080059 [A/G] rs4650270 1 92082656 [T/G] rs12034186 1 92082962 [T/C] rs17569956 1 92089259 [T/G] rs11165102 1 92095078 [T/G] rs10874851 1 92106637 [A/C] rs2182424 1 92107736 [T/C] rs2493202 1 92108899 [T/C] rs2182425 1 92112890 [A/C] rs17131515 1 92116019 [A/C] rs4459159 1 92122248 [T/C] exm74575 1 92149303 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_T849M,Missense_T850M,Missense_T849M,Silent rs2810891 1 92154088 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs2810887 1 92158571 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm74586 1 92161298 [A/T] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_I789F,Missense_I790F,Missense_I789F,Silent exm1929694 1 92161307 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_V786M,Missense_V787M,Missense_V786M,Silent rs12141338 1 92161991 [T/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs6693438 1 92163174 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm74594 1 92163646 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_P776S,Missense_P777S,Missense_P776S,Silent exm74597 1 92163682 [G/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_G764R,Missense_G765R,Missense_G764R,Silent rs3767576 1 92166931 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs6660484 1 92172608 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs284878 1 92174260 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Synonymous_T748T,Synonymous_T749T,Synonymous_T748T,Silent rs1805113 1 92177938 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Synonymous_F675F,Synonymous_F676F,Synonymous_F675F,Silent rs2029354 1 92181670 [A/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm74624 1 92182222 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_P536L,Missense_P537L,Missense_P536L,Silent exm74625 1 92182233 [A/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_S532R,Missense_S533R,Missense_S532R,Silent exm74626 1 92184869 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Synonymous_S521S,Synonymous_S522S,Synonymous_S521S,Silent exm1929767 1 92184927 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_N502S,Missense_N503S,Missense_N502S,Silent exm74629 1 92184966 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_K489R,Missense_K490R,Missense_K489R,Silent newrs188034157 1 92185487 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_E458G,Missense_E459G,Missense_E458G,Silent exm74650 1 92187652 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_M312T,Missense_M312T,Missense_M312T,Silent exm74651 1 92187701 [A/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_A296S,Missense_A296S,Missense_A296S,Silent rs12751148 1 92190072 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm74662 1 92195428 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_S224F,Missense_S224F,Missense_S224F,Silent rs7517044 1 92198162 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs11582136 1 92199184 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm2233977 1 92200389 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_V171A,Missense_V171A,Missense_V171A,Silent exm74670 1 92200413 [A/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_W163L,Missense_W163L,Missense_W163L,Silent rs12076549 1 92201699 [A/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs11579207 1 92203190 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs17513917 1 92205197 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm-rs17131547 1 92211020 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs10493860 1 92212703 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs284169 1 92213442 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs17131552 1 92224815 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs284191 1 92236048 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm2264872 1 92241776 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs12090296 1 92242568 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs6683840 1 92249817 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs1411276 1 92257971 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs11799400 1 92258103 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs4658270 1 92258782 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm74687 1 92263005 [C/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_E29Q,Missense_E29Q,Missense_E29Q,Silent rs284149 1 92276535 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs10874981 1 92285875 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs901917 1 92292407 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs11466561 1 92314842 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs2799523 1 92316682 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm74690 1 92327034 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_T19A,Missense_T19A,Missense_T19A,Silent exm74691 1 92327045 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_S15F,Missense_S15F,Missense_S15F,Silent exm74692 1 92327048 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_S14N,Missense_S14N,Missense_S14N,Silent rs11165679 1 92329059 [A/G] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs10493856 1 92334749 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs2634018 1 92334845 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs10875030 1 92339976 [T/C] NM_001195683,NM_003243,NM_001195684,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs6680614 1 92358371 [T/G] NM_001195684 TGFBR3 Silent rs17576372 1 92366174 [T/C] NM_001195684 TGFBR3 Silent rs2770186 1 92378843 [T/C] rs9943134 1 92393752 [T/G] rs6666624 1 92416821 [T/C] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT Silent,Silent,Silent,Silent,Silent,Silent rs9887935 1 92425621 [T/G] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT Silent,Silent,Silent,Silent,Silent,Silent,Silent exm74704 1 92428495 [A/C] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_Q62K,Missense_Q62K,Missense_Q62K,Missense_Q62K,Silent,Missense_Q62K,Missense_Q62K exm74710 1 92430266 [T/C] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Silent,Missense_S92L,Missense_S92L,Silent,Missense_S19L,Missense_S92L,Missense_S92L exm74714 1 92441876 [A/G] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_A121T,Missense_A167T,Missense_A171T,Missense_A121T,Missense_A94T,Missense_A167T,Missense_A167T exm74716 1 92441933 [A/G] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_I140V,Missense_I186V,Missense_I190V,Missense_I140V,Missense_I113V,Missense_I186V,Missense_I186V exm74725 1 92442695 [A/C] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_K192N,Missense_K238N,Missense_K242N,Missense_K192N,Missense_K165N,Missense_K238N,Missense_K238N exm74731 1 92442802 [A/G] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_R228K,Missense_R274K,Missense_R278K,Missense_R228K,Missense_R201K,Missense_R274K,Missense_R274K exm74736 1 92442902 [T/A] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_H261Q,Missense_H307Q,Missense_H311Q,Missense_H261Q,Missense_H234Q,Missense_H307Q,Missense_H307Q exm74740 1 92443803 [A/G] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_K304E,Missense_K350E,Missense_K354E,Missense_K304E,Missense_K277E,Missense_K350E,Missense_K350E exm74741 1 92443824 [A/G] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_E311K,Missense_E357K,Missense_E361K,Missense_E311K,Missense_E284K,Missense_E357K,Missense_E357K exm74745 1 92445179 [A/G] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_M338I,Missense_M384I,Missense_M388I,Missense_M338I,Missense_M311I,Missense_M384I,Missense_M384I exm74748 1 92445240 [A/G] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_A359T,Missense_A405T,Missense_A409T,Missense_A359T,Missense_A332T,Missense_A405T,Missense_A405T indel.4814 1 92445245 [I/D] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON exm74749 1 92445257 [C/G] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_N364K,Missense_N410K,Missense_N414K,Missense_N364K,Missense_N337K,Missense_N410K,Missense_N410K indel.4815 1 92446268 [D/I] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON exm74761 1 92446333 [T/C] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_M428T,Missense_M474T,Missense_M478T,Missense_M428T,Missense_M401T,Missense_M474T,Missense_M474T variant.4816 1 92446445 [A/G] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.4817 1 92446602 [I/D] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON exm74773 1 92446887 [T/C] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_R559W,Missense_R605W,Missense_R609W,Missense_R559W,Missense_R532W,Missense_R605W,Missense_R605W exm74774 1 92446888 [A/G] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_R559Q,Missense_R605Q,Missense_R609Q,Missense_R559Q,Missense_R532Q,Missense_R605Q,Missense_R605Q exm74779 1 92447217 [A/G] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_R590Q,Missense_R636Q,Missense_R640Q,Missense_R590Q,Missense_R563Q,Missense_R636Q,Missense_R636Q rs10735794 1 92453336 [A/G] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1930629 1 92456792 [A/G] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_E639G,Missense_E685G,Missense_E689G,Missense_E639G,Missense_E612G,Missense_E685G,Missense_E685G exm74792 1 92457843 [T/C] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_P650L,Missense_P696L,Missense_P700L,Missense_P650L,Missense_P623L,Missense_P696L,Missense_P696L rs1410583 1 92462296 [A/G] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT Silent,Silent,Silent,Silent,Silent,Silent,Silent exm74809 1 92467626 [A/G] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_N724D,Missense_N770D,Missense_N774D,Missense_N724D,Missense_N697D,Missense_N770D,Missense_N770D exm74810 1 92467669 [T/C] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_T738M,Missense_T784M,Missense_T788M,Missense_T738M,Missense_T711M,Missense_T784M,Missense_T784M exm74818 1 92469990 [T/C] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_A757V,Missense_A803V,Missense_A807V,Missense_A757V,Missense_A730V,Missense_A803V,Missense_A803V exm74831 1 92470809 [T/C] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_R864C,Missense_R910C,Missense_R914C,Missense_R864C,Missense_R837C,Missense_R910C,Missense_R910C variant.4820 1 92470857 [A/G] NM_001242807,NM_207189,NM_001242806,NM_001242808,NM_001242810,NM_001242805,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT Silent,Silent,Silent,Silent,Silent,Silent,Silent exm74839 1 92495782 [A/G] NM_173567 EPHX4 EXON Missense_Q49R exm74846 1 92498120 [T/C] NM_173567 EPHX4 EXON Missense_L97P rs1014415 1 92502060 [A/G] NM_173567 EPHX4 Silent rs17131593 1 92503338 [T/C] NM_173567 EPHX4 Silent exm74851 1 92508490 [A/C] NM_173567 EPHX4 EXON Missense_K143T exm74853 1 92508517 [A/G] NM_173567 EPHX4 EXON Missense_K152R rs1073001 1 92512379 [A/G] NM_173567 EPHX4 Silent variant.4825 1 92515885 [T/C] NM_173567 EPHX4 EXON Nonsense_R206X variant.4827 1 92518216 [T/G] NM_173567 EPHX4 Silent exm74867 1 92546144 [A/G] NM_183242 BTBD8 EXON Missense_E6K exm74869 1 92546189 [T/C] NM_183242 BTBD8 EXON Missense_C21R exm74874 1 92554283 [A/G] NM_183242 BTBD8 EXON Missense_V60I exm74877 1 92554358 [T/C] NM_183242 BTBD8 EXON Missense_F85L newrs151101910 1 92554449 [T/G] NM_183242 BTBD8 EXON Nonsense_L115X rs11166141 1 92561392 [A/G] NM_183242 BTBD8 Silent exm74880 1 92568060 [A/C] NM_183242 BTBD8 EXON Missense_K126N exm74881 1 92568089 [A/G] NM_183242 BTBD8 EXON Missense_K136R rs1226187 1 92579206 [A/G] NM_183242 BTBD8 Silent rs2046297 1 92583738 [A/G] NM_183242 BTBD8 Silent var_1_92595338 1 92595338 [A/G] NM_183242 BTBD8 Silent exm74890 1 92604915 [A/G] NM_183242 BTBD8 EXON Missense_H254R exm74891 1 92604946 [A/G] NM_183242 BTBD8 EXON Missense_I264M rs563113 1 92608852 [T/G] NM_183242 BTBD8 Silent indel.4830 1 92612755 [D/I] NM_183242 BTBD8 EXON indel.4831 1 92613315 [D/I] NM_183242 BTBD8 EXON exm74904 1 92633429 [A/G] exm74906 1 92633442 [A/C] exm74909 1 92642595 [A/G] NM_015237 KIAA1107 EXON Missense_I102M exm74916 1 92642962 [A/G] NM_015237 KIAA1107 EXON Missense_I225V exm74918 1 92643066 [A/G] NM_015237 KIAA1107 EXON Missense_M259I exm74928 1 92645953 [G/C] NM_015237 KIAA1107 EXON Missense_V392L exm74938 1 92646415 [C/G] NM_015237 KIAA1107 EXON Missense_H546D exm74939 1 92646431 [A/G] NM_015237 KIAA1107 EXON Missense_D551G exm74942 1 92646532 [T/A] NM_015237 KIAA1107 EXON Missense_N585Y exm74952 1 92647223 [A/G] NM_015237 KIAA1107 EXON Missense_N815S exm74953 1 92647250 [T/C] NM_015237 KIAA1107 EXON Missense_T824M exm74956 1 92647532 [A/C] NM_015237 KIAA1107 EXON Missense_T918N exm74960 1 92647636 [T/G] NM_015237 KIAA1107 EXON Missense_F953V exm74965 1 92647861 [A/G] NM_015237 KIAA1107 EXON Missense_V1028I exm2273661 1 92649457 [A/G] NM_015237 KIAA1107 EXON Missense_R1137H rs17578686 1 92678105 [A/G] exm74979 1 92696989 [A/T] NM_001012425 C1orf146 EXON Missense_S4R indel.4832 1 92697014 [D/I] NM_001012425 C1orf146 EXON rs6679259 1 92704761 [T/G] NM_001012425 C1orf146 Silent newrs112497048 1 92707814 [T/C] NM_001012425 C1orf146 EXON Nonsense_R38X exm74989 1 92709801 [A/T] NM_001012425 C1orf146 EXON Missense_K63M exm74992 1 92709824 [G/C] NM_001012425 C1orf146 EXON Missense_E71Q newrs150020703 1 92710414 [A/G] NM_001012425 C1orf146 EXON Synonymous_K136K exm75010 1 92712095 [T/C] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON Silent,Missense_I593V,Missense_I579V exm75015 1 92712176 [A/C] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON Silent,Missense_D566Y,Missense_D552Y exm75023 1 92728424 [T/C] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON Silent,Missense_N490S,Missense_N476S indel.4840 1 92729242 [D/I] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON variant.4841 1 92729256 [A/G] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON Silent,Nonsense_Q445X,Nonsense_Q431X indel.4842 1 92729265 [I/D] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON exm75035 1 92732031 [T/C] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON Silent,Missense_M387V,Missense_M373V exm75040 1 92733511 [A/G] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON Silent,Missense_Y353H,Missense_Y353H exm75041 1 92733546 [T/C] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON Silent,Missense_N341S,Missense_N341S exm75042 1 92733663 [A/G] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON Silent,Missense_L336S,Missense_L336S exm75047 1 92735301 [T/G] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON Silent,Missense_H319P,Missense_H319P exm75051 1 92737046 [A/G] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON Silent,Missense_I300T,Missense_I300T exm75054 1 92737089 [T/C] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON Silent,Missense_M286V,Missense_M286V indel.4845 1 92737098 [I/D] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON exm1930749 1 92737184 [C/G] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON Silent,Missense_P254R,Missense_P254R indel.4847 1 92754549 [I/D] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON exm75066 1 92754667 [T/C] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON Silent,Missense_A146T,Missense_A146T exm75072 1 92756989 [T/C] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON Silent,Missense_D91N,Missense_D91N exm75075 1 92762982 [A/C] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON Silent,Missense_I48M,Missense_I48M exm75077 1 92763008 [G/C] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON Silent,Missense_G40R,Missense_G40R exm75081 1 92763068 [T/C] NR_135089,NM_053274,NM_001319683 GLMN,GLMN,GLMN EXON Silent,Missense_D20N,Missense_D20N rs10875349 1 92765102 [T/C] NM_024813 RPAP2 Silent exm75100 1 92767132 [G/C] NM_024813 RPAP2 EXON Missense_E73D indel.4852 1 92769597 [I/D] NM_024813 RPAP2 EXON rs11166543 1 92781579 [T/C] NM_024813 RPAP2 Silent rs7529971 1 92785745 [T/C] NM_024813 RPAP2 Silent indel.4855 1 92789274 [I/D] NM_024813 RPAP2 EXON exm75123 1 92789342 [A/G] NM_024813 RPAP2 EXON Missense_E289K exm75124 1 92789409 [T/C] NM_024813 RPAP2 EXON Missense_A311V exm75136 1 92789806 [T/G] NM_024813 RPAP2 EXON Missense_I443M indel.4856 1 92789907 [D/I] NM_024813 RPAP2 EXON exm75143 1 92799008 [A/G] NM_024813 RPAP2 EXON Missense_V506I indel.4858 1 92799015 [I/D] NM_024813 RPAP2 EXON indel.4859 1 92799022 [D/I] NM_024813 RPAP2 EXON rs7535181 1 92843178 [A/G] NM_024813 RPAP2 Silent exm2265027 1 92843178 [A/G] NM_024813 RPAP2 Silent exm2233992 1 92846306 [A/G] NM_024813 RPAP2 EXON Missense_K572E exm75149 1 92846322 [A/G] NM_024813 RPAP2 EXON Missense_G577D exm75150 1 92846346 [A/T] NM_024813 RPAP2 EXON Missense_D585V rs6692060 1 92846681 [A/G] NM_024813 RPAP2 Silent rs7524120 1 92865160 [A/G] rs3929737 1 92867911 [A/G] kgp11962852 1 92869733 [T/C] rs10399724 1 92925390 [A/G] exm75161 1 92941657 [A/G] NM_001127215,NM_001127216,NM_005263 GFI1,GFI1,GFI1 EXON Missense_L400F,Missense_L400F,Missense_L400F exm75178 1 92946226 [C/G] NM_001127215,NM_001127216,NM_005263 GFI1,GFI1,GFI1 EXON Missense_E240Q,Missense_E240Q,Missense_E240Q exm75192 1 92946625 [C/G] NM_001127215,NM_001127216,NM_005263 GFI1,GFI1,GFI1 EXON Missense_P107A,Missense_P107A,Missense_P107A exm75204 1 92948938 [T/C] NM_001127215,NM_001127216,NM_005263 GFI1,GFI1,GFI1 EXON Missense_S36N,Missense_S36N,Missense_S36N rs7540564 1 92957826 [A/C] rs10782922 1 92974595 [A/G] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Silent,Silent,Silent,Silent rs1886684 1 92975938 [T/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Silent,Silent,Silent,Silent exm75216 1 92979254 [A/G] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Silent,Missense_R814W,Missense_R798W,Missense_R809W exm75220 1 92979331 [A/G] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Silent,Missense_V788A,Missense_V772A,Missense_V783A exm75221 1 92979335 [T/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Silent,Missense_A787T,Missense_A771T,Missense_A782T rs11804321 1 93009313 [T/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 Silent,Silent,Silent,Silent exm-rs7515577 1 93009438 [A/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 Silent,Silent,Silent,Silent variant.4863 1 93029234 [A/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Nonsense_E711X,Nonsense_E711X,Nonsense_E695X,Nonsense_E706X exm75232 1 93029245 [T/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Missense_Q707R,Missense_Q707R,Missense_Q691R,Missense_Q702R exm75235 1 93070892 [T/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Missense_R681Q,Missense_R681Q,Missense_R665Q,Missense_R676Q exm75237 1 93070934 [T/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Missense_R667K,Missense_R667K,Missense_R651K,Missense_R662K exm75244 1 93073228 [A/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Missense_Q628H,Missense_Q628H,Missense_Q612H,Missense_Q623H rs10159031 1 93079490 [A/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 Silent,Silent,Silent,Silent exm75252 1 93089873 [T/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Missense_T563A,Missense_T563A,Missense_T547A,Missense_T558A exm75253 1 93089887 [T/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Missense_H558R,Missense_H558R,Missense_H542R,Missense_H553R exm75254 1 93089891 [A/G] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Missense_R557C,Missense_R557C,Missense_R541C,Missense_R552C newrs143887144 1 93101827 [A/G] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Nonsense_R487X,Nonsense_R487X,Nonsense_R471X,Nonsense_R482X exm1931397 1 93142719 [A/G] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Missense_I385T,Missense_I385T,Missense_I429T,Missense_I429T exm75267 1 93142746 [A/G] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Missense_T376M,Missense_T376M,Missense_T420M,Missense_T420M 1KG_1_93159881 1 93159881 [D/I] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON exm75269 1 93159927 [A/G] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Missense_R310C,Missense_R310C,Missense_R354C,Missense_R354C var_1_93159946 1 93159946 [T/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 Silent,Silent,Silent,Silent exm75272 1 93160880 [A/G] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Missense_I299T,Missense_I299T,Missense_I343T,Missense_I343T exm75274 1 93160902 [T/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Missense_I292V,Missense_I292V,Missense_I336V,Missense_I336V exm75288 1 93169106 [T/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Missense_S137N,Missense_S137N,Missense_S181N,Missense_S181N variant.4874 1 93170170 [T/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Nonsense_W94X,Nonsense_W94X,Nonsense_W138X,Nonsense_W138X rs11800409 1 93181013 [T/G] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 Silent,Silent,Silent,Silent rs2391198 1 93190954 [T/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 Silent,Silent,Silent,Silent exm2273662 1 93201961 [T/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Missense_Q48R,Missense_Q48R,Missense_Q92R,Missense_Q92R exm75296 1 93202018 [A/G] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 EXON Missense_S29F,Missense_S29F,Missense_S73F,Missense_S73F rs1337107 1 93218776 [A/G] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 Silent,Silent,Silent,Silent kgp10173543 1 93222418 [T/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 Silent,Silent,Silent,Silent rs11164808 1 93235500 [A/C] NM_001350198,NM_001350197,NM_005665,NM_001308248 EVI5,EVI5,EVI5,EVI5 Silent,Silent,Silent,Silent rs4847221 1 93269824 [T/C] rs10874742 1 93289668 [T/C] rs34244251 1 93297180 [A/G] exm-rs6604026 1 93303603 [T/C] NR_146333,NM_000969,NM_001252273 RPL5,RPL5,FAM69A Silent,Silent,Silent exm75369 1 93309316 [T/C] NM_001252273,NM_001252271,NM_001252269,NM_001252270,NM_001006605 FAM69A,FAM69A,FAM69A,FAM69A,FAM69A EXON Silent,Missense_D279G,Missense_D259G,Missense_D245G,Missense_D304G exm75373 1 93312749 [T/A] NM_001252273,NM_001252271,NM_001252269,NM_001252270,NM_001006605 FAM69A,FAM69A,FAM69A,FAM69A,FAM69A EXON Missense_S155R,Missense_S130R,Missense_S110R,Silent,Missense_S155R rs17271666 1 93320593 [T/C] NM_001252273,NM_001252271,NM_001252269,NM_001252270,NM_001006605 FAM69A,FAM69A,FAM69A,FAM69A,FAM69A Silent,Silent,Silent,Silent,Silent exm-rs10874746 1 93323971 [T/C] NM_001252273,NM_001252271,NM_001252269,NM_001252270,NM_001006605 FAM69A,FAM69A,FAM69A,FAM69A,FAM69A Silent,Silent,Silent,Silent,Silent exm75380 1 93341897 [T/C] NM_001252273,NM_001252271,NM_001252269,NM_001252270,NM_001006605 FAM69A,FAM69A,FAM69A,FAM69A,FAM69A EXON Missense_T49A,Missense_T24A,Silent,Missense_T49A,Missense_T49A rs10782946 1 93352669 [A/G] NM_001252273,NM_001252269,NM_001252270,NM_001006605 FAM69A,FAM69A,FAM69A,FAM69A Silent,Silent,Silent,Silent rs6698233 1 93397300 [T/C] NM_001252273,NM_001252269,NM_001252270,NM_001006605 FAM69A,FAM69A,FAM69A,FAM69A Silent,Silent,Silent,Silent rs10493863 1 93399694 [T/C] NM_001252273,NM_001252269,NM_001252270,NM_001006605 FAM69A,FAM69A,FAM69A,FAM69A Silent,Silent,Silent,Silent exm-rs12745968 1 93401837 [A/G] NM_001252273,NM_001252269,NM_001252270,NM_001006605 FAM69A,FAM69A,FAM69A,FAM69A Silent,Silent,Silent,Silent rs6671268 1 93439821 [T/C] rs11164854 1 93443043 [T/C] rs11164855 1 93466960 [T/C] rs17381426 1 93473150 [T/C] rs492054 1 93473744 [A/C] exm2264873 1 93477292 [A/G] rs2928183 1 93477292 [A/G] rs680285 1 93489113 [A/C] rs6688632 1 93490650 [T/C] rs1678778 1 93502451 [A/G] rs563930 1 93515049 [T/C] rs2265927 1 93521050 [T/G] rs2249590 1 93523083 [T/G] rs549938 1 93530980 [A/G] rs546445 1 93544629 [T/C] rs2815424 1 93553223 [T/G] NM_001164393,NM_001164392,NM_007358,NM_001164391 MTF2,MTF2,MTF2,MTF2 Silent,Silent,Silent,Silent exm75395 1 93576132 [A/G] NM_001164393,NM_001164392,NM_007358,NM_001164391 MTF2,MTF2,MTF2,MTF2 EXON Silent,Missense_I79V,Missense_I79V,Silent exm75401 1 93580580 [A/T] NM_001164393,NM_001164392,NM_007358,NM_001164391 MTF2,MTF2,MTF2,MTF2 EXON Missense_C38S,Missense_C140S,Missense_C140S,Missense_C38S exm75402 1 93580581 [C/G] NM_001164393,NM_001164392,NM_007358,NM_001164391 MTF2,MTF2,MTF2,MTF2 EXON Missense_C38S,Missense_C140S,Missense_C140S,Missense_C38S indel.4879 1 93580644 [D/I] NM_001164393,NM_001164392,NM_007358,NM_001164391 MTF2,MTF2,MTF2,MTF2 EXON exm2260857 1 93584606 [A/G] NM_001164393,NM_001164392,NM_007358,NM_001164391 MTF2,MTF2,MTF2,MTF2 Silent,Silent,Silent,Silent rs11801977 1 93591636 [A/G] NM_001164393,NM_001164392,NM_007358,NM_001164391 MTF2,MTF2,MTF2,MTF2 Silent,Silent,Silent,Silent variant.4880 1 93599655 [T/G] NM_001164393,NM_001164392,NM_007358,NM_001164391 MTF2,MTF2,MTF2,MTF2 EXON Nonsense_E341X,Nonsense_E386X,Nonsense_E443X,Nonsense_E341X exm75437 1 93599677 [A/G] NM_001164393,NM_001164392,NM_007358,NM_001164391 MTF2,MTF2,MTF2,MTF2 EXON Missense_N348S,Missense_N393S,Missense_N450S,Missense_N348S exm75446 1 93602292 [A/G] NM_001164393,NM_001164392,NM_007358,NM_001164391 MTF2,MTF2,MTF2,MTF2 EXON Missense_R395Q,Missense_R440Q,Missense_R497Q,Missense_R395Q exm75448 1 93602364 [A/G] NM_001164393,NM_001164392,NM_007358,NM_001164391 MTF2,MTF2,MTF2,MTF2 EXON Missense_G419D,Missense_G464D,Missense_G521D,Missense_G419D exm75451 1 93602439 [A/G] NM_001164393,NM_001164392,NM_007358,NM_001164391 MTF2,MTF2,MTF2,MTF2 EXON Missense_N444S,Missense_N489S,Missense_N546S,Missense_N444S rs546 1 93617546 [T/C] NM_016040,NM_001167830,NR_030761 TMED5,TMED5,TMED5 EXON Silent,Silent,Silent exm75455 1 93620318 [A/G] NM_016040,NM_001167830,NR_030761 TMED5,TMED5,TMED5 EXON Missense_M200T,Silent,Silent exm2234004 1 93620328 [T/A] NM_016040,NM_001167830,NR_030761 TMED5,TMED5,TMED5 EXON Missense_F197I,Silent,Silent exm75457 1 93620354 [T/C] NM_016040,NM_001167830,NR_030761 TMED5,TMED5,TMED5 EXON Missense_Q188R,Silent,Silent newrs138776730 1 93620355 [A/G] NM_016040,NM_001167830,NR_030761 TMED5,TMED5,TMED5 EXON Nonsense_Q188X,Silent,Silent exm75460 1 93620393 [A/G] NM_016040,NM_001167830,NR_030761 TMED5,TMED5,TMED5 EXON Missense_T175I,Synonymous_N191N,Silent indel.4882 1 93625685 [D/I] NM_016040,NM_001167830,NR_030761 TMED5,TMED5,TMED5 var_1_93645613 1 93645613 [A/G] NM_016040,NM_001167830,NR_030761 TMED5,TMED5,TMED5 EXON Nonsense_Q63X,Nonsense_Q63X,Silent variant.4891 1 93649533 [A/G] NM_206886,NM_001306076 CCDC18,CCDC18 Silent,Silent exm1934178 1 93651937 [T/G] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_I113M,Missense_I113M exm75511 1 93651947 [T/C] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Nonsense_R117X,Nonsense_R117X exm75517 1 93657581 [C/G] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_Q163E,Missense_Q163E rs7513705 1 93666349 [T/C] NM_206886,NM_001306076 CCDC18,CCDC18 Silent,Silent exm75524 1 93667456 [T/C] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Nonsense_R236X,Nonsense_R236X exm2234005 1 93672671 [A/T] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Nonsense_K309X,Nonsense_K309X exm75531 1 93672720 [T/A] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_K325I,Missense_K325I exm75532 1 93672723 [A/C] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_N326T,Missense_N326T exm75535 1 93672827 [A/G] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_M361V,Missense_M361V exm75536 1 93672840 [A/G] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_R365Q,Missense_R365Q exm75538 1 93672875 [T/C] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Nonsense_R377X,Nonsense_R377X exm75541 1 93676391 [T/G] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Nonsense_Y414X,Nonsense_Y414X exm75542 1 93676434 [T/C] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_R429C,Missense_R429C exm75547 1 93677666 [T/C] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_L448P,Missense_L448P exm75549 1 93677761 [A/G] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_S480G,Missense_S480G exm75550 1 93677792 [A/C] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_P490H,Missense_P490H exm75552 1 93680333 [T/C] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_M510T,Missense_M509T exm75557 1 93680515 [A/G] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_E571K,Missense_E570K variant.4903 1 93680524 [A/G] NM_206886,NM_001306076 CCDC18,CCDC18 Silent,Silent exm75559 1 93682193 [T/A] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_M574L,Missense_M573L exm75564 1 93683379 [A/G] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_K639E,Missense_K638E exm75566 1 93687187 [A/C] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_K662Q,Missense_K661Q exm75571 1 93687292 [A/G] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_S697G,Missense_S696G rs519723 1 93704326 [A/G] NM_206886,NM_001306076 CCDC18,CCDC18 Silent,Silent exm75591 1 93704878 [T/C] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_I872T,Missense_I871T exm75593 1 93704941 [A/G] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_R893Q,Missense_R892Q exm75594 1 93704952 [A/G] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_N897D,Missense_N896D exm75595 1 93704967 [T/C] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_L902F,Missense_L901F exm75603 1 93711733 [A/G] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_N1018S,Missense_N1017S rs12030843 1 93720070 [G/C] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_L1081V,Missense_L1080V exm75612 1 93720070 [G/C] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_L1081V,Missense_L1080V exm2275462 1 93720153 [A/G] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Synonymous_R1108R,Synonymous_R1107R rs633789 1 93723476 [A/G] NM_206886,NM_001306076 CCDC18,CCDC18 Silent,Silent indel.4911 1 93724336 [D/I] NM_206886,NM_001306076 CCDC18,CCDC18 EXON exm75620 1 93724389 [A/G] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_I1211V,Missense_I1210V exm75622 1 93730286 [A/G] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_K1238R,Missense_K1237R exm75624 1 93730343 [T/G] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Nonsense_L1257X,Nonsense_L1256X exm75627 1 93730380 [T/A] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_D1269E,Missense_D1268E indel.4912 1 93730409 [I/D] NM_206886,NM_001306076 CCDC18,CCDC18 EXON exm75630 1 93730427 [T/C] NM_206886,NM_001306076 CCDC18,CCDC18 EXON Missense_I1285T,Missense_I1284T rs12085959 1 93741025 [T/C] NM_206886,NM_001306076 CCDC18,CCDC18 Silent,Silent exm75645 1 93812276 [T/C] NM_001938 DR1 EXON Missense_T25I variant.4913 1 93812427 [A/G] NM_001938 DR1 Silent rs12133576 1 93816400 [A/G] NM_001938 DR1 Silent exm75651 1 93826068 [A/G] NM_001938 DR1 EXON Missense_E135K exm75655 1 93826178 [A/T] NM_001938 DR1 EXON Missense_E171D rs8561 1 93826455 [A/G] NM_001938 DR1 EXON Silent rs2162276 1 93875371 [T/G] rs7339890 1 93897624 [T/C] rs2493645 1 93907020 [A/G] rs17109997 1 93941449 [A/G] NM_017737,NM_001164473,NM_001024948 FNBP1L,FNBP1L,FNBP1L Silent,Silent,Silent exm75666 1 93988986 [A/G] NM_017737,NM_001164473,NM_001024948 FNBP1L,FNBP1L,FNBP1L EXON Missense_A94T,Missense_A94T,Missense_A94T variant.4914 1 93989880 [T/C] NM_017737,NM_001164473,NM_001024948 FNBP1L,FNBP1L,FNBP1L EXON Synonymous_N135N,Synonymous_N135N,Synonymous_N135N var_1_93995257 1 93995257 [T/C] NM_017737,NM_001164473,NM_001024948 FNBP1L,FNBP1L,FNBP1L EXON Nonsense_Q152X,Nonsense_Q152X,Nonsense_Q152X exm75688 1 93998617 [A/G] NM_017737,NM_001164473,NM_001024948 FNBP1L,FNBP1L,FNBP1L EXON Missense_E260K,Missense_E260K,Missense_E260K exm75692 1 94000386 [A/G] NM_017737,NM_001164473,NM_001024948 FNBP1L,FNBP1L,FNBP1L EXON Missense_Q304R,Missense_Q304R,Missense_Q304R rs237438 1 94002813 [T/G] NM_017737,NM_001164473,NM_001024948 FNBP1L,FNBP1L,FNBP1L Silent,Silent,Silent indel.4916 1 94009728 [D/I] NM_017737,NM_001164473,NM_001024948 FNBP1L,FNBP1L,FNBP1L EXON exm75698 1 94012521 [A/G] NM_017737,NM_001164473,NM_001024948 FNBP1L,FNBP1L,FNBP1L EXON Missense_H408R,Missense_H466R,Missense_H408R exm75704 1 94014876 [A/G] NM_017737,NM_001164473,NM_001024948 FNBP1L,FNBP1L,FNBP1L EXON Missense_R457H,Missense_R515H,Missense_R457H exm75706 1 94014906 [A/G] NM_017737,NM_001164473,NM_001024948 FNBP1L,FNBP1L,FNBP1L EXON Missense_N467S,Missense_N525S,Missense_N467S indel.4917 1 94027865 [I/D] NM_001308251,NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3,BCAR3 EXON exm75719 1 94027910 [C/G] NM_001308251,NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_G465A,Missense_G698A,Missense_G789A,Missense_G789A,Missense_G789A rs237435 1 94030534 [T/C] NM_001308251,NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3,BCAR3 Silent,Silent,Silent,Silent,Silent exm75724 1 94032862 [T/C] NM_001308251,NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_R434Q,Missense_R667Q,Missense_R758Q,Missense_R758Q,Missense_R758Q exm75725 1 94032881 [T/C] NM_001308251,NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_E428K,Missense_E661K,Missense_E752K,Missense_E752K,Missense_E752K exm75728 1 94032937 [T/C] NM_001308251,NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_N409S,Missense_N642S,Missense_N733S,Missense_N733S,Missense_N733S indel.4919 1 94032949 [I/D] NM_001308251,NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3,BCAR3 EXON exm75734 1 94032991 [A/G] NM_001308251,NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_T391M,Missense_T624M,Missense_T715M,Missense_T715M,Missense_T715M exm75735 1 94033042 [A/G] NM_001308251,NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_T374I,Missense_T607I,Missense_T698I,Missense_T698I,Missense_T698I exm75745 1 94037330 [A/G] NM_001308251,NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_A300V,Missense_A533V,Missense_A624V,Missense_A624V,Missense_A624V exm75750 1 94037397 [A/G] NM_001308251,NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_H278Y,Missense_H511Y,Missense_H602Y,Missense_H602Y,Missense_H602Y rs236316 1 94044597 [T/C] NM_001308251,NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3,BCAR3 Silent,Silent,Silent,Silent,Silent exm75769 1 94048105 [A/T] NM_001308251,NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_D156V,Missense_D389V,Missense_D480V,Missense_D480V,Missense_D480V exm75774 1 94048153 [T/C] NM_001308251,NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_E140G,Missense_E373G,Missense_E464G,Missense_E464G,Missense_E464G rs12062278 1 94048153 [T/C] NM_001308251,NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_E140G,Missense_E373G,Missense_E464G,Missense_E464G,Missense_E464G exm75779 1 94048294 [A/G] NM_001308251,NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_S93L,Missense_S326L,Missense_S417L,Missense_S417L,Missense_S417L rs3950119 1 94049237 [T/C] NM_001308251,NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3,BCAR3 Silent,Silent,Silent,Silent,Silent exm75793 1 94049576 [A/G] NM_001308251,NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3,BCAR3 EXON Synonymous_I20I,Synonymous_I253I,Synonymous_I344I,Synonymous_I344I,Synonymous_I344I exm75801 1 94054577 [T/C] NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_V205I,Missense_V296I,Missense_V296I,Missense_V296I exm75802 1 94054627 [A/G] NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_T188I,Missense_T279I,Missense_T279I,Missense_T279I exm75808 1 94054684 [T/C] NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_R169Q,Missense_R260Q,Missense_R260Q,Missense_R260Q exm75812 1 94054724 [T/C] NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_A156T,Missense_A247T,Missense_A247T,Missense_A247T exm75815 1 94054751 [A/G] NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_R147C,Missense_R238C,Missense_R238C,Missense_R238C exm75816 1 94054765 [T/C] NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_C142Y,Missense_C233Y,Missense_C233Y,Missense_C233Y exm75821 1 94054820 [T/C] NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_V124M,Missense_V215M,Missense_V215M,Missense_V215M exm2275463 1 94054835 [C/G] NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_E119Q,Missense_E210Q,Missense_E210Q,Missense_E210Q exm75822 1 94054843 [T/C] NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_R116Q,Missense_R207Q,Missense_R207Q,Missense_R207Q rs236322 1 94056279 [T/G] NM_001261410,NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 Silent,Silent,Silent,Silent exm75831 1 94057835 [T/C] NM_001261410,NM_003567,NM_001261409,NM_001261408,NR_034091 BCAR3,BCAR3,BCAR3,BCAR3,LOC100129046 EXON Missense_R67H,Missense_R158H,Missense_R158H,Missense_R158H,Silent rs236306 1 94081407 [A/G] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 Silent,Silent,Silent rs3767990 1 94106844 [T/C] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 Silent,Silent,Silent exm75838 1 94107891 [T/C] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 EXON Missense_H109R,Missense_H109R,Missense_H109R exm2268725 1 94115299 [T/C] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 Silent,Silent,Silent rs236285 1 94132788 [A/G] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 Silent,Silent,Silent exm75840 1 94140189 [T/C] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 EXON Missense_G100S,Missense_G100S,Missense_G100S exm75843 1 94140199 [G/C] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 EXON Missense_Q96H,Missense_Q96H,Missense_Q96H exm75851 1 94140375 [A/G] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 EXON Missense_R38C,Missense_R38C,Missense_R38C exm75852 1 94140377 [A/T] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 EXON Missense_H37L,Missense_H37L,Missense_H37L indel.4926 1 94140444 [D/I] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 EXON exm75855 1 94140470 [T/A] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 EXON Missense_F6Y,Missense_F6Y,Missense_F6Y exm75856 1 94140479 [C/G] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 EXON Missense_A3G,Missense_A3G,Missense_A3G rs1011903 1 94143719 [T/C] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 Silent,Silent,Silent rs2893248 1 94160787 [T/C] NM_001261408 BCAR3 Silent rs4847183 1 94185344 [T/C] NM_001261408 BCAR3 Silent rs871854 1 94197793 [A/G] NM_001261408 BCAR3 Silent rs1108528 1 94206162 [A/C] NM_001261408 BCAR3 Silent rs12410101 1 94210906 [T/C] NM_001261408 BCAR3 Silent rs11164974 1 94214272 [T/C] NM_001261408 BCAR3 Silent rs4526623 1 94224065 [T/C] NM_001261408,NR_148965 BCAR3,MIG7 Silent,Silent rs10158448 1 94228900 [A/G] NM_001261408,NR_148965 BCAR3,MIG7 Silent,Silent rs2391313 1 94241556 [A/G] NM_001261408 BCAR3 Silent rs6701957 1 94250201 [A/C] NM_001261408 BCAR3 Silent rs12406729 1 94272119 [A/G] NM_001261408 BCAR3 Silent rs11165012 1 94291481 [T/C] NM_001261408 BCAR3 Silent exm1940232 1 94335432 [T/C] NM_014597 DNTTIP2 EXON Missense_R749Q exm75867 1 94335436 [A/C] NM_014597 DNTTIP2 EXON Missense_F748V variant.4927 1 94335522 [T/G] NM_014597 DNTTIP2 Silent rs12041975 1 94336935 [T/C] NM_014597 DNTTIP2 Silent rs2143992 1 94337048 [T/C] NM_014597 DNTTIP2 Silent exm75869 1 94337638 [T/C] NM_014597 DNTTIP2 EXON Missense_K686R exm1940265 1 94337702 [T/C] NM_014597 DNTTIP2 EXON Missense_K665E exm75874 1 94338679 [T/C] NM_014597 DNTTIP2 EXON Missense_R633H rs4847264 1 94340556 [T/G] NM_014597 DNTTIP2 Silent kgp7964759 1 94341267 [A/G] NM_014597 DNTTIP2 EXON Synonymous_F580F exm75880 1 94341825 [A/G] NM_014597 DNTTIP2 EXON Missense_L556F exm75890 1 94342061 [T/C] NM_014597 DNTTIP2 EXON Missense_G477E exm75891 1 94342103 [A/G] NM_014597 DNTTIP2 EXON Missense_L463S exm75895 1 94342202 [A/G] NM_014597 DNTTIP2 EXON Missense_A430V variant.4931 1 94342406 [T/G] NM_014597 DNTTIP2 EXON Nonsense_S362X exm75907 1 94342564 [A/C] NM_014597 DNTTIP2 EXON Missense_E309D rs3747965 1 94342564 [A/C] NM_014597 DNTTIP2 EXON Missense_E309D exm75909 1 94342647 [T/C] NM_014597 DNTTIP2 EXON Missense_E282K rs3789457 1 94343233 [T/C] NM_014597 DNTTIP2 EXON Synonymous_E86E variant.4933 1 94343270 [T/G] NM_014597 DNTTIP2 EXON Nonsense_S74X exm75925 1 94343294 [T/C] NM_014597 DNTTIP2 EXON Missense_K66R exm75926 1 94343375 [A/G] NM_014597 DNTTIP2 EXON Missense_T39I rs2235971 1 94344716 [T/C] NM_014597 DNTTIP2 EXON Silent rs6687387 1 94346327 [A/G] rs11165029 1 94348081 [A/C] kgp421816 1 94352842 [T/C] NM_001308253,NM_002061 GCLM,GCLM EXON Silent,Silent kgp904130 1 94353449 [T/G] NM_001308253,NM_002061 GCLM,GCLM EXON Silent,Silent kgp4419341 1 94353573 [T/C] NM_001308253,NM_002061 GCLM,GCLM EXON Silent,Silent kgp2262685 1 94353668 [T/C] NM_001308253,NM_002061 GCLM,GCLM EXON Silent,Silent rs17880076 1 94353795 [T/G] NM_001308253,NM_002061 GCLM,GCLM EXON Silent,Silent kgp15530290 1 94353925 [C/G] NM_001308253,NM_002061 GCLM,GCLM EXON Silent,Silent exm75937 1 94354629 [T/G] NM_001308253,NM_002061 GCLM,GCLM EXON Missense_L226M,Missense_L248M rs769211 1 94360107 [A/C] NM_001308253,NM_002061 GCLM,GCLM Silent,Silent rs17880087 1 94360198 [T/C] NM_001308253,NM_002061 GCLM,GCLM EXON Missense_I187M,Missense_I209M exm75944 1 94362293 [C/G] NM_001308253,NM_002061 GCLM,GCLM EXON Missense_E119Q,Missense_E141Q exm75947 1 94363421 [A/G] NM_001308253,NM_002061 GCLM,GCLM EXON Missense_S82L,Missense_S104L rs12062047 1 94363437 [T/C] NM_001308253,NM_002061 GCLM,GCLM EXON Missense_E77K,Missense_E99K rs7517826 1 94365334 [A/C] NM_001308253,NM_002061 GCLM,GCLM Silent,Silent rs718873 1 94371909 [T/C] NM_001308253,NM_002061 GCLM,GCLM Silent,Silent rs3789453 1 94374026 [T/C] NM_001308253,NM_002061 GCLM,GCLM Silent,Silent rs7543184 1 94386808 [T/C] rs6696758 1 94394079 [A/G] rs7520019 1 94400045 [A/G] rs10874819 1 94419799 [T/C] rs743117 1 94441950 [T/C] kgp10440772 1 94458657 [T/C] NM_000350 ABCA4 EXON Silent kgp15851336 1 94458659 [T/C] NM_000350 ABCA4 EXON Silent kgp25247447 1 94458709 [T/G] NM_000350 ABCA4 EXON Silent exm75970 1 94461717 [A/C] NM_000350 ABCA4 EXON Missense_S2255I kgp15274466 1 94461749 [T/C] NM_000350 ABCA4 EXON Synonymous_V2244V exm-rs17110736 1 94462769 [A/G] NM_000350 ABCA4 Silent exm75974 1 94463425 [G/C] NM_000350 ABCA4 EXON Missense_L2241V exm75982 1 94463617 [T/C] NM_000350 ABCA4 EXON Missense_D2177N rs3789375 1 94465132 [T/G] NM_000350 ABCA4 Silent rs4147871 1 94465461 [A/G] NM_000350 ABCA4 Silent rs12070273 1 94466088 [A/G] NM_000350 ABCA4 Silent newrs140142529 1 94466426 [A/G] NM_000350 ABCA4 EXON Nonsense_R2149X exm75994 1 94466624 [T/C] NM_000350 ABCA4 EXON Missense_R2107H rs2297669 1 94466625 [T/G] NM_000350 ABCA4 EXON Missense_R2107S kgp12093801 1 94467447 [A/G] NM_000350 ABCA4 EXON Synonymous_I2083I exm76012 1 94467548 [C/G] NM_000350 ABCA4 EXON Missense_V2050L exm76014 1 94471025 [T/C] NM_000350 ABCA4 EXON Missense_R2040Q newrs61753038 1 94471026 [A/G] NM_000350 ABCA4 EXON Nonsense_R2040X exm76016 1 94471055 [T/C] NM_000350 ABCA4 EXON Missense_R2030Q exm76018 1 94471065 [A/G] NM_000350 ABCA4 EXON Missense_L2027F newrs61751408 1 94471065 [A/G] NM_000350 ABCA4 EXON Missense_L2027F rs1762114 1 94471075 [A/G] NM_000350 ABCA4 EXON Synonymous_I2023I rs3789379 1 94472520 [A/G] NM_000350 ABCA4 Silent exm76023 1 94473203 [T/C] NM_000350 ABCA4 EXON Missense_V1998I exm76027 1 94473287 [A/G] NM_000350 ABCA4 EXON Missense_L1970F exm76028 1 94473807 [T/C] NM_000350 ABCA4 EXON Missense_G1961E exm76029 1 94473808 [T/C] NM_000350 ABCA4 EXON Missense_G1961R rs2275029 1 94473845 [T/C] NM_000350 ABCA4 EXON Synonymous_P1948P exm76031 1 94473846 [A/G] NM_000350 ABCA4 EXON Missense_P1948L rs4147857 1 94474328 [T/C] NM_000350 ABCA4 EXON Synonymous_L1938L exm2234013 1 94474387 [A/C] NM_000350 ABCA4 EXON Missense_D1919Y exm76037 1 94474408 [T/C] NM_000350 ABCA4 EXON Missense_E1912K exm76038 1 94474420 [C/G] NM_000350 ABCA4 EXON Missense_E1908Q rs4147856 1 94474452 [T/G] NM_000350 ABCA4 Silent rs2065712 1 94476035 [T/C] NM_000350 ABCA4 Silent exm76043 1 94476377 [T/C] NM_000350 ABCA4 EXON Missense_R1898H kgp7546508 1 94476388 [G/C] NM_000350 ABCA4 EXON Synonymous_L1894L exm2273664 1 94476477 [A/G] NM_000350 ABCA4 EXON Missense_H1865Y exm76052 1 94476484 [A/T] NM_000350 ABCA4 EXON Synonymous_G1862G rs945067 1 94477893 [T/C] NM_000350 ABCA4 Silent rs17391542 1 94477935 [A/G] NM_000350 ABCA4 Silent exm76067 1 94480221 [G/C] NM_000350 ABCA4 EXON Missense_P1780A variant.4960 1 94480241 [A/G] NM_000350 ABCA4 EXON Missense_A1773V rs915201 1 94481596 [A/G] NM_000350 ABCA4 Silent rs915199 1 94481929 [T/C] NM_000350 ABCA4 Silent indel.4963 1 94485165 [D/I] NM_000350 ABCA4 EXON exm2234014 1 94485220 [T/C] NM_000350 ABCA4 EXON Missense_R1705Q exm76082 1 94485247 [T/C] NM_000350 ABCA4 EXON Missense_S1696N exm76083 1 94485257 [T/C] NM_000350 ABCA4 EXON Missense_V1693I rs6681879 1 94485277 [A/C] NM_000350 ABCA4 EXON Missense_V1686G exm76087 1 94485278 [T/C] NM_000350 ABCA4 EXON Missense_V1686M exm76095 1 94486889 [A/C] NM_000350 ABCA4 EXON Missense_S1642I exm76096 1 94486905 [T/C] NM_000350 ABCA4 EXON Missense_A1637T newrs61750155 1 94487251 [T/G] NM_000350 ABCA4 EXON Missense_A1598D exm76100 1 94487404 [T/C] NM_000350 ABCA4 EXON Missense_G1591R newrs1800551 1 94487443 [T/C] NM_000350 ABCA4 EXON Missense_G1578R exm1941553 1 94487460 [A/G] NM_000350 ABCA4 EXON Missense_T1572M exm76109 1 94487490 [A/G] NM_000350 ABCA4 EXON Missense_I1562T rs1932014 1 94488497 [A/G] NM_000350 ABCA4 Silent rs2151847 1 94489975 [A/C] NM_000350 ABCA4 Silent exm76114 1 94490534 [A/G] NM_000350 ABCA4 EXON Missense_T1537M var_1_94490550 1 94490550 [T/C] NM_000350 ABCA4 EXON Missense_D1532N exm76121 1 94490588 [A/G] NM_000350 ABCA4 EXON Missense_T1519M rs3945204 1 94492773 [T/C] NM_000350 ABCA4 Silent rs4147847 1 94493098 [T/C] NM_000350 ABCA4 Silent exm76124 1 94495037 [G/C] NM_000350 ABCA4 EXON Missense_E1501D exm76126 1 94495073 [A/C] NM_000350 ABCA4 EXON Missense_R1489S exm76127 1 94495123 [T/G] NM_000350 ABCA4 EXON Missense_L1473M exm76135 1 94496039 [T/C] NM_000350 ABCA4 EXON Missense_V1433I exm76138 1 94496053 [A/G] NM_000350 ABCA4 EXON Missense_T1428M kgp25059502 1 94496602 [T/G] NM_000350 ABCA4 EXON Synonymous_P1401P exm76150 1 94496666 [A/G] NM_000350 ABCA4 EXON Missense_P1380L rs4147842 1 94496949 [T/C] NM_000350 ABCA4 Silent exm76165 1 94497563 [T/C] NM_000350 ABCA4 EXON Missense_R1300Q 1KG_1_94502312 1 94502312 [I/D] NM_000350 ABCA4 EXON newrs61752424 1 94502756 [A/G] NM_000350 ABCA4 EXON Missense_T1253M exm76186 1 94502888 [A/G] NM_000350 ABCA4 EXON Missense_M1209T kgp15587918 1 94502888 [A/G] NM_000350 ABCA4 EXON Missense_M1209T exm76187 1 94502906 [T/C] NM_000350 ABCA4 EXON Missense_G1203E exm76188 1 94505604 [A/C] NM_000350 ABCA4 EXON Missense_L1201R exm76195 1 94505659 [A/C] NM_000350 ABCA4 EXON Missense_G1183C exm76204 1 94506901 [A/C] NM_000350 ABCA4 EXON Missense_R1129L exm76219 1 94508969 [A/G] NM_000350 ABCA4 EXON Missense_A1038V exm76222 1 94509026 [A/G] NM_000350 ABCA4 EXON Missense_T1019M exm76225 1 94510248 [C/G] NM_000350 ABCA4 EXON Missense_G991R exm76226 1 94510253 [A/G] NM_000350 ABCA4 EXON Missense_V989A kgp15617551 1 94510255 [A/G] NM_000350 ABCA4 EXON Synonymous_L988L exm76230 1 94510289 [A/G] NM_000350 ABCA4 EXON Missense_T977M exm76235 1 94512499 [T/C] NM_000350 ABCA4 EXON Missense_N965S exm76241 1 94512565 [T/C] NM_000350 ABCA4 EXON Missense_R943Q exm76242 1 94512566 [A/G] NM_000350 ABCA4 EXON Missense_R943W exm76244 1 94512580 [A/G] NM_000350 ABCA4 EXON Missense_F938S kgp15642711 1 94512602 [T/C] NM_000350 ABCA4 EXON Missense_V931M newrs139035971 1 94514424 [T/C] NM_000350 ABCA4 EXON Missense_D915N exm76248 1 94514424 [T/C] NM_000350 ABCA4 EXON Missense_D915N exm76251 1 94514466 [T/C] NM_000350 ABCA4 EXON Missense_T901A exm76252 1 94514475 [T/C] NM_000350 ABCA4 EXON Missense_E898K newrs61749441 1 94514475 [T/C] NM_000350 ABCA4 EXON Missense_E898K exm76253 1 94514477 [A/G] NM_000350 ABCA4 EXON Missense_T897I exm76257 1 94517190 [T/C] NM_000350 ABCA4 EXON Synonymous_E884E indel.5010 1 94517239 [D/I] NM_000350 ABCA4 EXON exm76261 1 94517254 [C/G] NM_000350 ABCA4 EXON Missense_G863A kgp24780775 1 94520708 [A/G] NM_000350 ABCA4 EXON Missense_V849A exm76266 1 94520708 [A/G] NM_000350 ABCA4 EXON Missense_V849A newrs143100856 1 94520733 [T/G] NM_000350 ABCA4 EXON Missense_Q841K exm76271 1 94520768 [A/G] NM_000350 ABCA4 EXON Missense_T829M exm76278 1 94522177 [T/C] NM_000350 ABCA4 EXON Missense_A788T rs497511 1 94523113 [A/G] NM_000350 ABCA4 Silent variant.5016 1 94526106 [A/G] NM_000350 ABCA4 EXON Missense_T716M var_1_94526265 1 94526265 [T/C] NM_000350 ABCA4 EXON Nonsense_W663X exm76289 1 94526284 [T/C] NM_000350 ABCA4 EXON Missense_I657V exm76291 1 94526289 [A/C] NM_000350 ABCA4 EXON Missense_F655C kgp15624315 1 94528138 [A/G] NM_000350 ABCA4 EXON Synonymous_D644D exm76297 1 94528142 [A/C] NM_000350 ABCA4 EXON Missense_V643G exm76298 1 94528143 [T/C] NM_000350 ABCA4 EXON Missense_V643M kgp24841447 1 94528192 [T/C] NM_000350 ABCA4 EXON Synonymous_A626A exm76302 1 94528209 [T/C] NM_000350 ABCA4 EXON Missense_R621G newrs61749409 1 94528266 [A/G] NM_000350 ABCA4 EXON Missense_R602W exm76307 1 94528278 [T/C] NM_000350 ABCA4 EXON Missense_V598M variant.5026 1 94528683 [T/C] NM_000350 ABCA4 EXON Missense_N582S variant.5027 1 94528728 [A/G] NM_000350 ABCA4 EXON Missense_V567A kgp15244607 1 94528729 [T/C] NM_000350 ABCA4 EXON Missense_V567M exm76312 1 94528774 [T/C] NM_000350 ABCA4 EXON Missense_V552I exm76316 1 94528806 [A/G] NM_000350 ABCA4 EXON Missense_L541P exm76317 1 94528818 [T/C] NM_000350 ABCA4 EXON Missense_R537H kgp8499517 1 94528818 [T/C] NM_000350 ABCA4 EXON Missense_R537H newrs61748556 1 94528819 [A/G] NM_000350 ABCA4 EXON Missense_R537C newrs145718830 1 94528836 [T/C] NM_000350 ABCA4 EXON Missense_E531G exm76319 1 94528836 [T/C] NM_000350 ABCA4 EXON Missense_E531G rs553608 1 94531013 [T/C] NM_000350 ABCA4 Silent rs3789405 1 94531324 [T/C] NM_000350 ABCA4 Silent rs12759306 1 94537642 [A/C] NM_000350 ABCA4 Silent exm76321 1 94543268 [T/C] NM_000350 ABCA4 EXON Missense_R511H exm76322 1 94543278 [A/G] NM_000350 ABCA4 EXON Missense_R508C exm76331 1 94543389 [T/C] NM_000350 ABCA4 EXON Missense_E471K newrs1800548 1 94543389 [T/C] NM_000350 ABCA4 EXON Missense_E471K rs4147831 1 94544233 [A/G] NM_000350 ABCA4 EXON Synonymous_H423H exm76337 1 94544234 [T/C] NM_000350 ABCA4 EXON Missense_H423R exm76338 1 94544235 [A/G] NM_000350 ABCA4 EXON Missense_H423Y newrs61748550 1 94544895 [A/G] NM_000350 ABCA4 EXON Nonsense_R408X exm76348 1 94544977 [T/A] NM_000350 ABCA4 EXON Missense_N380K newrs142231757 1 94546135 [T/C] NM_000350 ABCA4 EXON Missense_R333Q newrs61748546 1 94546136 [A/G] NM_000350 ABCA4 EXON Missense_R333W exm76362 1 94546261 [A/G] NM_000350 ABCA4 EXON Missense_P291L exm1942187 1 94548919 [T/C] NM_000350 ABCA4 EXON Missense_R283G indel.5046 1 94548927 [I/D] NM_000350 ABCA4 EXON exm76363 1 94548928 [T/A] NM_000350 ABCA4 EXON Missense_M280L rs563429 1 94553866 [A/G] NM_000350 ABCA4 Silent rs4847196 1 94554453 [A/G] NM_000350 ABCA4 Silent rs554931 1 94557357 [T/C] NM_000350 ABCA4 Silent exm2264874 1 94560938 [A/G] NM_000350 ABCA4 Silent exm1942370 1 94564376 [T/C] NM_000350 ABCA4 EXON Missense_V248M exm76374 1 94564451 [T/G] NM_000350 ABCA4 EXON Missense_K223Q kgp4271902 1 94564483 [T/C] NM_000350 ABCA4 EXON Missense_R212H exm2275465 1 94564500 [A/G] NM_000350 ABCA4 EXON Synonymous_S206S exm76380 1 94564522 [A/G] NM_000350 ABCA4 EXON Missense_A199V kgp15357830 1 94564522 [A/G] NM_000350 ABCA4 EXON Missense_A199V exm76381 1 94564529 [C/G] NM_000350 ABCA4 EXON Missense_D197H exm1942376 1 94564543 [A/G] NM_000350 ABCA4 EXON Missense_A192V exm76383 1 94564544 [T/C] NM_000350 ABCA4 EXON Missense_A192T exm76384 1 94568581 [T/C] NM_000350 ABCA4 EXON Missense_R187H exm76385 1 94568627 [T/C] NM_000350 ABCA4 EXON Missense_G172S newrs112467008 1 94568675 [T/C] NM_000350 ABCA4 EXON Missense_I156V exm76387 1 94568675 [T/C] NM_000350 ABCA4 EXON Missense_I156V exm76389 1 94568686 [T/C] NM_000350 ABCA4 EXON Missense_R152Q newrs80309162 1 94568686 [T/C] NM_000350 ABCA4 EXON Missense_R152Q rs481931 1 94570016 [T/G] NM_000350 ABCA4 Silent exm1942421 1 94574205 [A/G] NM_000350 ABCA4 EXON Missense_R124C indel.5054 1 94574243 [D/I] NM_000350 ABCA4 EXON exm76392 1 94574258 [T/A] NM_000350 ABCA4 EXON Missense_Y106F rs3789435 1 94576360 [A/G] NM_000350 ABCA4 Silent rs2297635 1 94576893 [A/G] NM_000350 ABCA4 Silent exm76394 1 94577002 [G/C] NM_000350 ABCA4 EXON Missense_N98K newrs61748529 1 94577010 [T/C] NM_000350 ABCA4 EXON Missense_N96D newrs61751412 1 94577082 [T/C] NM_000350 ABCA4 EXON Missense_G72R exm76401 1 94577135 [T/C] NM_000350 ABCA4 EXON Missense_C54Y rs1889404 1 94577423 [T/C] NM_000350 ABCA4 Silent kgp5797567 1 94578548 [T/C] NM_000350 ABCA4 EXON Synonymous_P47P exm76403 1 94578549 [A/G] NM_000350 ABCA4 EXON Missense_P47L variant.5059 1 94578618 [T/C] NM_000350 ABCA4 EXON Missense_R24H newrs150452677 1 94578619 [A/G] NM_000350 ABCA4 EXON Missense_R24C rs3789439 1 94579426 [T/C] NM_000350 ABCA4 Silent rs3789441 1 94581384 [T/C] NM_000350 ABCA4 Silent rs4147798 1 94585009 [T/C] NM_000350 ABCA4 Silent exm76407 1 94586550 [A/G] NM_000350 ABCA4 EXON Missense_R18W rs11165081 1 94594080 [A/C] rs6686599 1 94596831 [A/G] rs1931565 1 94596867 [A/G] rs4847286 1 94607848 [T/G] exm-rs2774920 1 94611300 [A/G] rs12742802 1 94629643 [A/C] rs1048866 1 94638711 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Silent,Silent,Silent,Silent,Silent exm76414 1 94639447 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_G1191D,Missense_G1255D,Missense_G1191D,Missense_G1255D,Missense_G1246D exm76426 1 94639856 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_I1055V,Missense_I1119V,Missense_I1055V,Missense_I1119V,Missense_I1110V exm76433 1 94640024 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_T999A,Missense_T1063A,Missense_T999A,Missense_T1063A,Missense_T1054A exm76434 1 94640030 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_A997T,Missense_A1061T,Missense_A997T,Missense_A1061T,Missense_A1052T variant.5061 1 94640159 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_V954I,Missense_V1018I,Missense_V954I,Missense_V1018I,Missense_V1009I exm76437 1 94640188 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_R944K,Missense_R1008K,Missense_R944K,Missense_R1008K,Missense_R999K exm76442 1 94640254 [A/G] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_I922T,Missense_I986T,Missense_I922T,Missense_I986T,Missense_I977T exm76448 1 94643209 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_R891H,Missense_R955H,Missense_R891H,Missense_R955H,Missense_R946H exm76453 1 94643466 [A/G] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_S849L,Missense_S913L,Missense_S849L,Missense_S913L,Missense_S904L exm76454 1 94643526 [T/G] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_Q829P,Missense_Q893P,Missense_Q829P,Missense_Q893P,Missense_Q884P rs1048854 1 94643531 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Synonymous_Q827Q,Synonymous_Q891Q,Synonymous_Q827Q,Synonymous_Q891Q,Synonymous_Q882Q exm76458 1 94643581 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_V811I,Missense_V875I,Missense_V811I,Missense_V875I,Missense_V866I exm76466 1 94645368 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_R734Q,Missense_R798Q,Missense_R734Q,Missense_R798Q,Missense_R789Q exm76481 1 94651026 [A/G] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_L534F,Missense_L598F,Missense_L534F,Missense_L598F,Missense_L589F exm76483 1 94652062 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Synonymous_S527S,Synonymous_S591S,Synonymous_S527S,Synonymous_S591S,Synonymous_S582S exm2253910 1 94652062 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Synonymous_S527S,Synonymous_S591S,Synonymous_S527S,Synonymous_S591S,Synonymous_S582S exm76484 1 94652109 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_M512V,Missense_M576V,Missense_M512V,Missense_M576V,Missense_M567V exm76488 1 94654810 [A/G] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_I449T,Missense_I513T,Missense_I449T,Missense_I513T,Missense_I504T exm76491 1 94654870 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_G429E,Missense_G493E,Missense_G429E,Missense_G493E,Missense_G484E rs4847294 1 94657769 [A/G] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 Silent,Silent,Silent,Silent,Silent rs7547705 1 94664158 [A/G] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 Silent,Silent,Silent,Silent,Silent rs1541098 1 94667970 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 Silent,Silent,Silent,Silent,Silent rs1541099 1 94668046 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 Silent,Silent,Silent,Silent,Silent exm2275467 1 94668200 [A/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_R284L,Missense_R348L,Missense_R284L,Missense_R348L,Missense_R348L exm76515 1 94668488 [C/G] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_E250Q,Missense_E314Q,Missense_E250Q,Missense_E314Q,Missense_E314Q exm76520 1 94668734 [A/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_N201K,Missense_N265K,Missense_N201K,Missense_N265K,Missense_N265K exm76525 1 94670725 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_V133M,Missense_V197M,Missense_V133M,Missense_V197M,Missense_V197M rs2274788 1 94674726 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 Silent,Silent,Silent,Silent,Silent rs3789689 1 94685585 [T/G] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 Silent,Silent,Silent,Silent,Silent exm76539 1 94685903 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Missense_R20H,Missense_R84H,Missense_R20H,Missense_R84H,Missense_R84H rs6541343 1 94689027 [A/G] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 Silent,Silent,Silent,Silent,Silent rs3789688 1 94691240 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 Silent,Silent,Silent,Silent,Silent exm76544 1 94696978 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Silent,Missense_E64K,Silent,Missense_E64K,Missense_E64K indel.5062 1 94697125 [I/D] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON exm76553 1 94697167 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 EXON Silent,Missense_M1V,Silent,Missense_M1V,Missense_M1V kgp22780445 1 94698970 [T/C] NM_001328665,NM_004815,NM_001328667,NM_001328664,NM_001328666 ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29,ARHGAP29 Silent,Silent,Silent,Silent,Silent rs3814019 1 94704396 [A/G] NM_001328665,NM_001328664 ARHGAP29,ARHGAP29 Silent,Silent rs6684485 1 94732938 [A/G] rs11165110 1 94752469 [A/G] rs1687932 1 94760462 [T/G] rs1330855 1 94760885 [A/G] rs11580391 1 94769368 [T/C] rs16928 1 94786514 [T/C] rs11802896 1 94790397 [A/G] kgp6035129 1 94791006 [A/G] rs2391467 1 94850443 [A/G] rs6660167 1 94888021 [T/G] NM_001122674,NM_002858 ABCD3,ABCD3 Silent,Silent rs610088 1 94899682 [T/C] NM_001122674,NM_002858 ABCD3,ABCD3 Silent,Silent exm76563 1 94924174 [A/G] NM_001122674,NM_002858 ABCD3,ABCD3 EXON Missense_G41E,Missense_G41E rs927728 1 94929485 [T/G] NM_001122674,NM_002858 ABCD3,ABCD3 Silent,Silent exm2234029 1 94953137 [A/G] NM_002858 ABCD3 EXON Missense_M313V exm76598 1 94955371 [A/G] NM_002858 ABCD3 EXON Synonymous_K416K indel.5064 1 94955377 [I/D] NM_002858 ABCD3 rs1749541 1 94958378 [A/G] NM_002858 ABCD3 Silent variant.5065 1 94964161 [T/C] NM_002858 ABCD3 EXON Nonsense_R464X variant.5066 1 94964590 [A/G] NM_002858 ABCD3 EXON Synonymous_L540L rs3849301 1 94978199 [T/C] NM_002858 ABCD3 Silent exm76630 1 94996062 [T/C] NM_001178096,NM_001993 F3,F3 EXON Missense_E228K,Missense_G281E exm76635 1 94997934 [A/G] NM_001178096,NM_001993 F3,F3 EXON Silent,Missense_R232W newrs139997737 1 94998038 [T/C] NM_001178096,NM_001993 F3,F3 Silent,Silent exm76642 1 94998750 [A/G] NM_001178096,NM_001993 F3,F3 EXON Missense_R163W,Missense_R163W rs5901 1 94998750 [A/G] NM_001178096,NM_001993 F3,F3 EXON Missense_R163W,Missense_R163W exm76655 1 95001655 [T/C] NM_001178096,NM_001993 F3,F3 EXON Missense_D93G,Missense_D93G newrs142597330 1 95005820 [A/G] NM_001178096,NM_001993 F3,F3 EXON Nonsense_Q69X,Nonsense_Q69X exm76659 1 95005865 [T/C] NM_001178096,NM_001993 F3,F3 EXON Missense_I54V,Missense_I54V exm76660 1 95005907 [T/C] NM_001178096,NM_001993 F3,F3 EXON Missense_A40T,Missense_A40T exm76661 1 95005919 [T/C] NM_001178096,NM_001993 F3,F3 EXON Missense_T36A,Missense_T36A rs1361600 1 95007918 [T/C] rs2762509 1 95025421 [T/C] rs6668501 1 95050326 [A/G] rs12758064 1 95052267 [T/G] rs12029080 1 95053353 [T/G] rs841680 1 95054940 [A/C] rs1772904 1 95055132 [T/C] rs841685 1 95058428 [T/C] rs1778214 1 95061355 [A/G] rs1772895 1 95068347 [A/G] rs7542900 1 95070041 [T/C] rs10874867 1 95083836 [T/C] rs10782983 1 95085258 [T/C] rs1539622 1 95085927 [A/G] rs12738550 1 95090677 [A/G] rs12725602 1 95093351 [A/G] rs2794489 1 95105307 [A/G] rs2996284 1 95107254 [T/C] rs3885983 1 95110447 [T/G] rs11165191 1 95120228 [T/C] rs17111996 1 95122518 [T/G] rs11165192 1 95127463 [T/C] NR_104131 SLC44A3-AS1 Silent rs6668794 1 95134903 [A/G] NR_104131 SLC44A3-AS1 Silent rs841344 1 95138084 [T/C] NR_104131 SLC44A3-AS1 Silent exm2268913 1 95140173 [T/G] NR_104131 SLC44A3-AS1 Silent rs12021681 1 95145453 [T/C] NR_104131 SLC44A3-AS1 Silent rs7522944 1 95151009 [A/G] NR_104131 SLC44A3-AS1 Silent rs841361 1 95151813 [T/C] NR_104131 SLC44A3-AS1 Silent rs4240960 1 95154785 [T/C] NR_104131 SLC44A3-AS1 Silent rs12120217 1 95161617 [A/G] NR_104131 SLC44A3-AS1 Silent rs1891873 1 95170056 [T/G] NR_104131 SLC44A3-AS1 Silent rs6541361 1 95171891 [T/G] NR_104131 SLC44A3-AS1 Silent rs1027307 1 95173343 [T/C] NR_104131 SLC44A3-AS1 Silent rs6665058 1 95177368 [T/C] NR_104131 SLC44A3-AS1 Silent rs2640062 1 95185274 [T/G] NR_104131 SLC44A3-AS1 Silent rs3933012 1 95195432 [A/G] NR_104131 SLC44A3-AS1 Silent rs1689166 1 95207442 [T/C] NR_104131 SLC44A3-AS1 Silent rs10493875 1 95207524 [A/G] NR_104131 SLC44A3-AS1 Silent rs1146267 1 95220161 [T/C] NR_104131 SLC44A3-AS1 Silent rs1146268 1 95220414 [T/C] NR_104131 SLC44A3-AS1 Silent rs17406046 1 95220538 [A/G] NR_104131 SLC44A3-AS1 Silent rs7525706 1 95235919 [A/C] NR_104131 SLC44A3-AS1 Silent rs3860336 1 95236282 [A/G] NR_104131 SLC44A3-AS1 Silent rs17414905 1 95239080 [T/C] NR_104131 SLC44A3-AS1 Silent rs4847214 1 95240822 [T/C] NR_104131 SLC44A3-AS1 Silent rs6678909 1 95259174 [A/G] NR_104131 SLC44A3-AS1 Silent rs3849302 1 95259359 [A/C] NR_104131 SLC44A3-AS1 Silent rs11590799 1 95269752 [A/C] NR_104131 SLC44A3-AS1 Silent rs6686047 1 95273964 [T/C] NR_104131 SLC44A3-AS1 Silent exm2268726 1 95276691 [T/C] NR_104131 SLC44A3-AS1 Silent exm76670 1 95286518 [G/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_G14A,Silent,Silent,Missense_G14A,Missense_G14A,Silent,Silent,Silent exm76673 1 95290064 [T/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_Y51H,Missense_Y15H,Silent,Missense_Y51H,Missense_Y51H,Missense_Y15H,Missense_Y3H,Missense_Y3H,Silent variant.5070 1 95293103 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_G107R,Missense_G71R,Silent,Missense_G107S,Missense_G107S,Missense_G71S,Missense_G59S,Missense_G59R,Missense_G10S variant.5071 1 95293108 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Silent,Silent,Silent,Synonymous_T108T,Synonymous_T108T,Synonymous_T72T,Synonymous_T60T,Silent,Synonymous_T11T exm76687 1 95294047 [A/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent newrs137975014 1 95294047 [A/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2640066 1 95294370 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs915012 1 95297374 [T/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm76693 1 95303290 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_R146Q,Missense_R110Q,Silent,Missense_R178Q,Missense_R178Q,Missense_R142Q,Missense_R130Q,Missense_R98Q,Missense_R81Q exm1948977 1 95303364 [T/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Nonsense_R171X,Nonsense_R135X,Silent,Nonsense_R203X,Nonsense_R203X,Nonsense_R167X,Nonsense_R155X,Nonsense_R123X,Nonsense_R106X variant.5075 1 95303428 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm76698 1 95305504 [A/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_A192D,Missense_A156D,Silent,Missense_A224D,Missense_A224D,Missense_A188D,Missense_A176D,Missense_A144D,Missense_A127D exm76701 1 95305578 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_I217V,Missense_I181V,Silent,Missense_I249V,Missense_I249V,Missense_I213V,Missense_I201V,Missense_I169V,Missense_I152V exm76702 1 95307600 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_D237N,Missense_D201N,Silent,Missense_D269N,Missense_D269N,Missense_D233N,Missense_D221N,Missense_D189N,Missense_D172N exm1949012 1 95307636 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_M249V,Missense_M213V,Silent,Missense_M281V,Missense_M281V,Missense_M245V,Missense_M233V,Missense_M201V,Missense_M184V rs859111 1 95309134 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs698964 1 95309772 [T/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs698963 1 95310618 [T/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs696620 1 95317464 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent newrs184943086 1 95322899 [T/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Nonsense_Q329X,Nonsense_Q293X,Silent,Nonsense_Q361X,Nonsense_Q361X,Nonsense_Q325X,Nonsense_Q313X,Nonsense_Q281X,Nonsense_Q264X exm76721 1 95322899 [T/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Nonsense_Q329X,Nonsense_Q293X,Silent,Nonsense_Q361X,Nonsense_Q361X,Nonsense_Q325X,Nonsense_Q313X,Nonsense_Q281X,Nonsense_Q264X exm76722 1 95322902 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_V330I,Missense_V294I,Silent,Missense_V362I,Missense_V362I,Missense_V326I,Missense_V314I,Missense_V282I,Missense_V265I exm76723 1 95322939 [T/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_S342L,Missense_S306L,Silent,Missense_S374L,Missense_S374L,Missense_S338L,Missense_S326L,Missense_S294L,Missense_S277L exm76727 1 95322960 [T/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_S349L,Missense_S313L,Silent,Missense_S381L,Missense_S381L,Missense_S345L,Missense_S333L,Missense_S301L,Missense_S284L rs9432593 1 95324990 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1949117 1 95330297 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm76734 1 95330361 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_H402R,Missense_H366R,Silent,Missense_H434R,Missense_H434R,Missense_H398R,Missense_H386R,Missense_H354R,Missense_H337R exm76735 1 95330372 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_V406I,Missense_V370I,Silent,Missense_V438I,Missense_V438I,Missense_V402I,Missense_V390I,Missense_V358I,Missense_V341I exm76736 1 95330373 [T/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_V406A,Missense_V370A,Silent,Missense_V438A,Missense_V438A,Missense_V402A,Missense_V390A,Missense_V358A,Missense_V341A exm76740 1 95330427 [T/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_M424T,Missense_M388T,Silent,Missense_M456T,Missense_M456T,Missense_M420T,Missense_M408T,Missense_M376T,Missense_M359T rs3849306 1 95332624 [T/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1949130 1 95332906 [T/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_R439M,Missense_R404M,Silent,Missense_R471M,Missense_R472M,Missense_R436M,Missense_R424M,Missense_R392M,Missense_R375M variant.5080 1 95332917 [T/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Nonsense_R443X,Nonsense_R408X,Silent,Nonsense_R475X,Nonsense_R476X,Nonsense_R440X,Nonsense_R428X,Nonsense_R396X,Nonsense_R379X exm76744 1 95332918 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_R443Q,Missense_R408Q,Silent,Missense_R475Q,Missense_R476Q,Missense_R440Q,Missense_R428Q,Missense_R396Q,Missense_R379Q rs7531174 1 95338091 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs859081 1 95346830 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs859067 1 95351921 [T/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2282382 1 95352973 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm76748 1 95356809 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_I503V,Missense_I468V,Silent,Missense_I535V,Missense_I536V,Missense_I500V,Missense_I488V,Missense_I456V,Missense_I439V exm76749 1 95357849 [T/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_C512R,Missense_C477R,Silent,Missense_C544R,Missense_C545R,Missense_C509R,Missense_C497R,Missense_C465R,Missense_C448R indel.5083 1 95357932 [I/D] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON exm76753 1 95357952 [T/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_A546V,Missense_A511V,Silent,Missense_A578V,Missense_A579V,Missense_A543V,Missense_A531V,Missense_A499V,Missense_A482V exm76754 1 95358036 [T/C] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_S574L,Missense_S539L,Silent,Missense_S606L,Missense_S607L,Missense_S571L,Missense_S559L,Missense_S527L,Missense_S510L rs859063 1 95358096 [A/G] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.5085 1 95360400 [D/I] NM_001258341,NM_001258343,NR_146575,NM_001258340,NM_001114106,NM_001258342,NM_152369,NM_001301079,NM_001350223 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON rs698970 1 95361119 [A/C] exm2273328 1 95363001 [T/C] NM_001839,NM_001286055,NM_001286056 CNN3,CNN3,CNN3 EXON Silent,Silent,Silent exm76760 1 95363359 [A/C] NM_001839,NM_001286055,NM_001286056 CNN3,CNN3,CNN3 EXON Missense_G310V,Missense_G264V,Missense_G269V exm76765 1 95363450 [A/C] NM_001839,NM_001286055,NM_001286056 CNN3,CNN3,CNN3 EXON Missense_V280F,Missense_V234F,Missense_V239F exm76783 1 95368998 [T/C] NM_001839,NM_001286055,NM_001286056 CNN3,CNN3,CNN3 EXON Missense_N47S,Missense_N47S,Missense_N6S rs7534566 1 95372100 [A/C] NM_001839,NM_001286055,NM_001286056 CNN3,CNN3,CNN3 Silent,Silent,Silent rs859044 1 95381030 [A/C] NM_001839,NM_001286055,NM_001286056 CNN3,CNN3,CNN3 Silent,Silent,Silent rs859040 1 95384670 [T/G] NM_001839,NM_001286055,NM_001286056 CNN3,CNN3,CNN3 Silent,Silent,Silent rs11809155 1 95401359 [A/G] NR_033998 LOC729970 Silent rs1271952 1 95417348 [T/C] NR_033998 LOC729970 Silent rs6667676 1 95421315 [A/G] NR_033998 LOC729970 Silent rs6541375 1 95429026 [T/G] rs7551774 1 95446762 [A/G] rs11165285 1 95471456 [T/C] NR_131032,NM_001305242,NM_144988 ALG14,ALG14,ALG14 Silent,Silent,Silent rs6687388 1 95515124 [T/C] NR_131032,NM_001305242,NM_144988 ALG14,ALG14,ALG14 Silent,Silent,Silent rs6675668 1 95515637 [T/G] NR_131032,NM_001305242,NM_144988 ALG14,ALG14,ALG14 Silent,Silent,Silent rs6671842 1 95524503 [T/G] NR_131032,NM_001305242,NM_144988 ALG14,ALG14,ALG14 Silent,Silent,Silent exm76806 1 95530448 [A/G] NR_131032,NM_001305242,NM_144988,NR_132786 ALG14,ALG14,ALG14,LOC101928098 EXON Silent,Nonsense_R88X,Nonsense_R88X,Silent exm76808 1 95530528 [T/C] NR_131032,NM_001305242,NM_144988,NR_132786 ALG14,ALG14,ALG14,LOC101928098 EXON Silent,Missense_N61S,Missense_N61S,Silent rs12755096 1 95536715 [A/G] NR_131032,NM_001305242,NM_144988 ALG14,ALG14,ALG14 Silent,Silent,Silent exm76818 1 95538415 [T/C] NR_131032,NM_001305242,NM_144988 ALG14,ALG14,ALG14 EXON Silent,Missense_V14M,Missense_V14M exm76819 1 95538424 [T/C] NR_131032,NM_001305242,NM_144988 ALG14,ALG14,ALG14 EXON Silent,Missense_A11T,Missense_A11T rs7417186 1 95546430 [T/G] rs9437689 1 95549536 [T/C] rs4950059 1 95551129 [T/C] rs6665763 1 95567336 [T/C] NM_001199679 TMEM56 Silent rs6680551 1 95567854 [A/G] NM_001199679 TMEM56 Silent rs4950076 1 95577297 [T/C] NM_001199679 TMEM56 Silent rs1023330 1 95586773 [T/C] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 Silent,Silent,Silent exm76824 1 95609563 [C/G] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 EXON Missense_P36A,Missense_P36A,Missense_P36A rs17113072 1 95611717 [A/G] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 Silent,Silent,Silent rs10157254 1 95614566 [A/C] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 Silent,Silent,Silent exm76830 1 95615786 [A/G] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 EXON Missense_V90M,Missense_V90M,Missense_V90M rs964333 1 95619863 [A/G] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 Silent,Silent,Silent rs2148796 1 95622341 [T/C] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 Silent,Silent,Silent rs11165328 1 95630461 [A/C] NM_001199679,NM_152487,NM_001199691,NR_125948,NR_125949 TMEM56,TMEM56,TMEM56-RWDD3,LOC101928118,LOC101928118 EXON Silent,Silent,Silent,Silent,Silent rs10782999 1 95634602 [A/G] NM_001199679,NM_152487,NM_001199691,NR_125948,NR_125949 TMEM56,TMEM56,TMEM56-RWDD3,LOC101928118,LOC101928118 Silent,Silent,Silent,Silent,Silent rs11165334 1 95638667 [A/G] NM_001199679,NM_152487,NM_001199691,NR_125948,NR_125949 TMEM56,TMEM56,TMEM56-RWDD3,LOC101928118,LOC101928118 Silent,Silent,Silent,Silent,Silent rs10458508 1 95643224 [T/C] NM_001199679,NM_152487,NM_001199691,NR_125948,NR_125949 TMEM56,TMEM56,TMEM56-RWDD3,LOC101928118,LOC101928118 Silent,Silent,Silent,Silent,Silent indel.5090 1 95657224 [I/D] NM_001199679,NM_152487,NM_001199691,NR_125948,NR_125949 TMEM56,TMEM56,TMEM56-RWDD3,LOC101928118,LOC101928118 EXON rs2039614 1 95690269 [T/C] NM_001199691,NR_125948,NR_125949 TMEM56-RWDD3,LOC101928118,LOC101928118 Silent,Silent,Silent exm-rs1414896 1 95692310 [A/G] NM_001199691,NR_125948,NR_125949 TMEM56-RWDD3,LOC101928118,LOC101928118 Silent,Silent,Silent rs1414896 1 95692310 [A/G] NM_001199691,NR_125948,NR_125949 TMEM56-RWDD3,LOC101928118,LOC101928118 Silent,Silent,Silent rs11165348 1 95694770 [A/G] NM_001199691,NR_125948,NR_125949 TMEM56-RWDD3,LOC101928118,LOC101928118 Silent,Silent,Silent rs6666528 1 95697490 [A/C] NM_001199691,NR_125948,NR_125949 TMEM56-RWDD3,LOC101928118,LOC101928118 Silent,Silent,Silent rs28559772 1 95698364 [T/C] NM_001199691,NR_125948,NR_125949 TMEM56-RWDD3,LOC101928118,LOC101928118 Silent,Silent,Silent exm76844 1 95699811 [T/C] NM_001199691,NM_001199682,NM_001128142,NM_001278248,NM_015485,NM_001278247,NR_103483,NR_103484 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Silent,Missense_L9F,Missense_L9F,Silent,Missense_L9F,Silent,Silent,Silent exm76846 1 95699829 [A/G] NM_001199691,NM_001199682,NM_001128142,NM_001278248,NM_015485,NM_001278247,NR_103483,NR_103484 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Silent,Missense_I15V,Missense_I15V,Silent,Missense_I15V,Silent,Silent,Silent exm76847 1 95699841 [T/C] NM_001199691,NM_001199682,NM_001128142,NM_001278248,NM_015485,NM_001278247,NR_103483,NR_103484 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Silent,Missense_P19S,Missense_P19S,Silent,Missense_P19S,Silent,Silent,Silent rs1160318 1 95703444 [T/G] NM_001199691,NM_001199682,NM_001128142,NM_001278248,NM_015485,NM_001278247,NR_103483,NR_103484 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs259359 1 95709039 [A/G] NM_001199691,NM_001199682,NM_001128142,NM_001278248,NM_015485,NM_001278247,NR_103483,NR_103484 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm76855 1 95709780 [T/C] NM_001199691,NM_001199682,NM_001128142,NM_001278248,NM_015485,NM_001278247,NR_103483,NR_103484 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Missense_R194C,Synonymous_T33T,Synonymous_T33T,Synonymous_T18T,Synonymous_T33T,Synonymous_T18T,Silent,Silent exm76857 1 95709821 [T/C] NM_001199691,NM_001199682,NM_001128142,NM_001278248,NM_015485,NM_001278247,NR_103483,NR_103484 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Silent,Missense_V47A,Missense_V47A,Missense_V32A,Missense_V47A,Missense_V32A,Silent,Silent indel.5093 1 95709853 [D/I] NM_001199691,NM_001199682,NM_001128142,NM_001278248,NM_015485,NM_001278247,NR_103483,NR_103484 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON exm76862 1 95709939 [T/G] NM_001199691,NM_001199682,NM_001128142,NM_001278248,NM_015485,NM_001278247,NR_103483,NR_103484 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Silent,Missense_N86K,Missense_N86K,Missense_N71K,Missense_N86K,Missense_N71K,Silent,Silent exm76865 1 95710180 [A/G] NM_001199691,NM_001199682,NM_001128142,NM_001278248,NM_015485,NM_001278247,NR_103483,NR_103484 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Silent,Missense_R167G,Missense_R167G,Missense_R152G,Missense_R167G,Missense_R152G,Silent,Silent indel.5095 1 95710206 [D/I] NM_001199691,NM_001199682,NM_001128142,NM_001278248,NM_015485,NM_001278247,NR_103483,NR_103484 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON exm76869 1 95710231 [C/G] NM_001199691,NM_001199682,NM_001128142,NM_001278248,NM_015485,NM_001278247,NR_103483,NR_103484 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Silent,Silent,Missense_Q184E,Missense_Q169E,Missense_Q184E,Silent,Silent,Silent rs10783001 1 95718941 [T/C] rs11165361 1 95741611 [T/C] rs259323 1 95749439 [A/G] rs650611 1 95754014 [A/G] rs6683355 1 95773106 [T/C] rs2236389 1 95776618 [A/G] NR_135588 LINC01760 EXON Silent rs4949960 1 95781217 [T/C] NR_135588 LINC01760 Silent rs4604740 1 95789603 [T/C] rs912651 1 95798900 [A/G] rs11165383 1 95800553 [T/C] rs4950046 1 95810750 [T/C] rs4523562 1 95811910 [A/G] rs4573557 1 95817718 [A/G] rs12562298 1 95828652 [A/G] rs17113446 1 95829831 [T/C] rs11165406 1 95832611 [A/G] rs7524217 1 95837686 [A/G] rs2391684 1 95850648 [T/C] rs4428940 1 95865533 [T/C] rs10874921 1 95867674 [T/G] rs11590987 1 95877746 [A/G] rs7547980 1 95884729 [A/G] exm2254070 1 95902901 [T/C] rs2064663 1 95902901 [T/C] rs1474883 1 95903597 [T/C] rs17113575 1 95917695 [T/C] rs6692957 1 95929401 [A/G] rs957186 1 95939767 [A/G] rs1415564 1 95947234 [T/C] rs12409850 1 95947820 [A/G] rs10874924 1 95966161 [T/C] exm2268914 1 95966161 [T/C] rs1577863 1 95967757 [A/G] rs874821 1 95973030 [A/C] rs1582123 1 95977445 [A/G] NR_110622,NR_110621 LOC100996635,LOC100996635 Silent,Silent rs881713 1 95985066 [A/G] rs12566519 1 95989978 [T/C] rs10783011 1 96002882 [T/C] rs12354293 1 96013073 [A/G] rs524151 1 96029510 [A/G] rs6593669 1 96034482 [T/C] rs661595 1 96051831 [T/G] rs10489560 1 96052746 [T/C] rs670074 1 96056162 [T/G] rs684149 1 96056974 [A/G] rs10489562 1 96058550 [A/G] rs573117 1 96072754 [T/C] rs588093 1 96106197 [A/C] rs3108719 1 96115365 [T/C] rs17114028 1 96118307 [A/G] rs585463 1 96143185 [A/G] rs6686569 1 96143433 [A/C] exm-rs6693882 1 96145968 [A/G] rs6693882 1 96145968 [A/G] rs11803770 1 96151539 [T/C] rs7554994 1 96152973 [T/C] rs2700335 1 96158128 [T/C] rs12751587 1 96159819 [A/G] rs4950073 1 96163965 [T/C] rs1931262 1 96174912 [T/C] rs6678734 1 96176563 [A/G] rs10874942 1 96214251 [A/G] rs6677579 1 96220903 [A/G] rs4245671 1 96258121 [T/C] rs6657506 1 96269870 [A/G] rs4345843 1 96271126 [T/C] rs11589942 1 96272062 [T/G] rs10874955 1 96274009 [T/C] rs4545389 1 96279245 [T/C] rs4472800 1 96280456 [T/G] rs17114164 1 96293810 [A/G] rs6593686 1 96296426 [A/G] rs1935569 1 96303910 [A/G] rs4950085 1 96305433 [A/G] rs2391710 1 96306787 [A/G] rs6670360 1 96308556 [T/C] rs7536165 1 96319712 [T/C] rs6682623 1 96319900 [T/C] rs6679428 1 96321437 [A/G] rs6660896 1 96337028 [A/G] rs12754240 1 96351754 [A/C] rs12035421 1 96361709 [A/C] exm2254080 1 96366808 [T/C] rs17452960 1 96388709 [A/G] rs6593689 1 96393689 [A/G] rs6679418 1 96403391 [T/C] rs6593693 1 96426052 [A/G] rs6663724 1 96432494 [A/C] rs10783030 1 96442134 [A/G] rs11165529 1 96443739 [T/G] rs321271 1 96454876 [A/G] rs321270 1 96457002 [T/G] rs321269 1 96457465 [T/C] rs2125421 1 96458324 [T/C] NR_125991 LOC102723661 Silent rs321262 1 96463024 [A/G] NR_125991 LOC102723661 Silent rs615413 1 96467524 [T/G] NR_125991 LOC102723661 Silent rs321244 1 96475548 [T/G] NR_125991 LOC102723661 Silent rs607674 1 96481556 [T/C] NR_125991 LOC102723661 Silent rs635754 1 96484940 [A/G] NR_125991 LOC102723661 Silent rs1379971 1 96486756 [T/C] NR_125991 LOC102723661 Silent rs589482 1 96486967 [A/G] NR_125991 LOC102723661 Silent rs161120 1 96496399 [T/C] rs161114 1 96500593 [T/C] rs1146535 1 96506530 [T/G] rs66512 1 96511272 [T/C] rs150892 1 96516252 [T/C] rs1146540 1 96528940 [T/C] rs1144325 1 96539243 [T/C] rs6672740 1 96544805 [T/C] rs686101 1 96564857 [T/C] rs12140320 1 96581785 [T/C] rs1222069 1 96595179 [A/C] rs12567412 1 96610271 [T/C] rs17422897 1 96630199 [T/C] rs1146557 1 96634994 [A/G] rs321559 1 96638203 [A/G] rs321565 1 96656005 [A/G] rs321576 1 96660592 [A/G] rs7539465 1 96680000 [T/C] rs12730665 1 96683642 [A/G] rs17114753 1 96686494 [A/G] rs321588 1 96688818 [A/G] rs1872733 1 96694568 [T/C] rs1041048 1 96695786 [T/C] kgp618712 1 96696976 [T/C] rs161994 1 96745594 [A/G] NR_110693 LINC01787 Silent rs1480666 1 96756638 [T/C] NR_110693 LINC01787 Silent rs326677 1 96787405 [T/C] NR_110693 LINC01787 Silent rs325953 1 96818456 [T/C] NR_110693 LINC01787 Silent rs11165603 1 96836370 [A/G] NR_110693 LINC01787 Silent rs12132961 1 96854358 [A/G] rs2968485 1 96869933 [T/C] rs547703 1 96874164 [A/G] rs672046 1 96877745 [T/G] rs12026788 1 96880146 [A/G] rs510552 1 96891671 [A/G] rs7512263 1 96941158 [A/C] rs10489741 1 96942406 [A/G] rs7546614 1 96942976 [A/C] exm-rs1973993 1 96943994 [T/C] exm-rs1555543 1 96944797 [A/C] rs6593602 1 96951281 [A/G] rs6677997 1 96954561 [A/G] rs11165656 1 96961107 [A/G] rs6701031 1 96975515 [T/C] rs7541994 1 96984344 [A/G] rs2256459 1 96985039 [A/G] rs1967769 1 96993449 [T/C] rs11165660 1 96993561 [T/G] rs3912027 1 96993603 [T/G] rs12751763 1 96997655 [T/C] rs6593611 1 97001996 [T/C] exm2265030 1 97016984 [A/G] rs6677110 1 97018734 [A/C] rs11165671 1 97023443 [T/G] rs1925833 1 97023641 [A/C] rs2477893 1 97031756 [T/C] exm-rs10783050 1 97037083 [T/C] rs957841 1 97052366 [A/G] rs6693873 1 97098359 [T/C] rs17115571 1 97100996 [A/G] rs1325755 1 97107005 [A/G] rs2220948 1 97110940 [A/G] exm2264875 1 97110940 [A/G] rs12071951 1 97113915 [T/G] rs6673531 1 97115049 [A/G] rs1409057 1 97146954 [A/G] exm-rs7544736 1 97164343 [A/G] rs7544736 1 97164343 [A/G] rs3908925 1 97177176 [A/G] rs12087010 1 97182039 [A/G] rs10875031 1 97196678 [T/C] NM_001300988,NM_001300990,NM_001300986,NM_001300985,NM_001300987,NR_125357,NM_001300989,NM_021190,NR_125356 PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12563540 1 97199355 [T/C] NM_001300988,NM_001300990,NM_001300986,NM_001300985,NM_001300987,NR_125357,NM_001300989,NM_021190,NR_125356 PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm76890 1 97217055 [A/G] NM_001300988,NM_001300990,NM_001300986,NM_001300985,NM_001300987,NR_125357,NM_001300989,NM_021190,NR_125356 PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2 EXON Synonymous_T38T,Silent,Synonymous_T46T,Synonymous_T38T,Synonymous_T49T,Silent,Synonymous_T38T,Synonymous_T38T,Silent variant.5096 1 97235436 [A/G] NM_001300988,NM_001300990,NM_001300986,NM_001300985,NM_001300987,NR_125357,NM_001300989,NM_021190,NR_125356 PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.5097 1 97278484 [T/C] NM_001300988,NM_001300990,NM_001300986,NM_001300985,NM_001300987,NR_125357,NM_001300989,NM_021190,NR_125356 PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2 EXON Missense_P468L,Missense_P411L,Missense_P471L,Missense_P468L,Missense_P479L,Silent,Missense_P463L,Missense_P463L,Silent rs273885 1 97279692 [T/C] NM_001300988,NM_001300990,NM_001300986,NM_001300985,NM_001300987,NR_125357,NM_001300989,NM_021190,NR_125356 PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2,PTBP2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs654848 1 97297245 [A/G] rs635578 1 97304571 [A/C] rs11584143 1 97316690 [A/G] rs11584817 1 97325914 [T/G] kgp948510 1 97330233 [T/C] rs1976805 1 97377456 [T/C] rs4950016 1 97385644 [A/G] rs10493887 1 97410506 [T/C] rs995258 1 97431052 [A/C] rs290821 1 97469804 [A/C] rs11165761 1 97488820 [A/G] rs290857 1 97526732 [T/G] rs290867 1 97536362 [A/G] rs17430460 1 97542479 [A/C] rs290861 1 97542797 [T/C] kgp24779459 1 97543470 [T/C] NM_000110 DPYD EXON Silent rs17470762 1 97543632 [A/G] NM_000110 DPYD EXON Silent kgp25082977 1 97543749 [A/C] NM_000110 DPYD EXON Silent rs291593 1 97543752 [A/G] NM_000110 DPYD EXON Silent kgp4551945 1 97543764 [T/C] NM_000110 DPYD EXON Silent rs1042482 1 97543959 [T/C] NM_000110 DPYD EXON Silent kgp9217610 1 97544258 [A/G] NM_000110 DPYD EXON Silent kgp9525520 1 97544373 [T/C] NM_000110 DPYD EXON Silent exm76928 1 97544543 [T/G] NM_000110 DPYD EXON Missense_P1023T exm76930 1 97544549 [G/C] NM_000110 DPYD EXON Missense_V1021L exm76933 1 97544612 [T/C] NM_000110 DPYD EXON Missense_D1000N rs1801268 1 97544627 [A/C] NM_000110 DPYD EXON Missense_V995F exm76936 1 97544632 [A/C] NM_000110 DPYD EXON Missense_L993R exm76937 1 97544695 [T/C] NM_000110 DPYD EXON Missense_Q972R exm76940 1 97547947 [A/T] NM_000110 DPYD EXON Missense_D949V variant.5099 1 97548027 [T/C] NM_000110 DPYD Silent rs290807 1 97552243 [A/G] NM_000110 DPYD Silent rs6667364 1 97553007 [A/G] NM_000110 DPYD Silent exm76952 1 97564154 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_R886H,Silent exm76953 1 97564155 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_R886C,Silent rs993568 1 97571799 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs6656043 1 97578372 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs2137975 1 97580323 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs970337 1 97584646 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs10493890 1 97588830 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs11165788 1 97601632 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs1709409 1 97602726 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs11165789 1 97602898 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs17432093 1 97613855 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs11165792 1 97621204 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs11165794 1 97621606 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs6593634 1 97635212 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs12759852 1 97641178 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs6681752 1 97649058 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs12079660 1 97651091 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs7513333 1 97663530 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs6593639 1 97670325 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs4128473 1 97672838 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent exm2254094 1 97681342 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs1333727 1 97681342 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs12046655 1 97682376 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs11799304 1 97685426 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs827497 1 97694442 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent variant.5100 1 97700403 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent variant.5101 1 97700521 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_A777S,Silent exm76962 1 97700526 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_L775W,Silent newrs56005131 1 97700547 [T/G] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_T768K,Silent rs533365 1 97703325 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs592609 1 97711452 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs12758854 1 97711561 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs4950025 1 97717279 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs495257 1 97721392 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs1520668 1 97735667 [G/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs10875062 1 97746924 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs6692946 1 97748929 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs10465748 1 97757424 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs4264037 1 97764073 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent variant.5104 1 97770839 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Nonsense_R759X,Silent exm76966 1 97770919 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_V732G,Silent kgp9376732 1 97770920 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_V732I,Silent exm76967 1 97770920 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_V732I,Silent exm76971 1 97771751 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_A721T,Silent exm76973 1 97771825 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_R696H,Silent exm76976 1 97771841 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_V691L,Silent rs7556439 1 97771947 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs10875069 1 97793775 [T/G] NM_000110 DPYD Silent rs10875071 1 97814678 [T/C] NM_000110 DPYD Silent rs11165845 1 97819405 [A/G] NM_000110 DPYD Silent exm-rs11165846 1 97819667 [G/C] NM_000110 DPYD Silent rs12124566 1 97830899 [A/G] NM_000110 DPYD Silent rs1879372 1 97833918 [T/C] NM_000110 DPYD Silent rs10875079 1 97841879 [A/G] NM_000110 DPYD Silent rs1415683 1 97845053 [T/G] NM_000110 DPYD Silent exm76982 1 97848017 [T/G] NM_000110 DPYD EXON Missense_I636L rs2152878 1 97853443 [T/C] NM_000110 DPYD Silent rs4445510 1 97863281 [T/C] NM_000110 DPYD Silent rs1577896 1 97867312 [T/C] NM_000110 DPYD Silent rs4300257 1 97872655 [A/C] NM_000110 DPYD Silent rs4492658 1 97876523 [G/C] NM_000110 DPYD Silent rs11165867 1 97878068 [T/C] NM_000110 DPYD Silent rs7516433 1 97903111 [T/C] NM_000110 DPYD Silent rs4612663 1 97912335 [T/G] NM_000110 DPYD Silent variant.5107 1 97915610 [A/C] NM_000110 DPYD Silent exm76983 1 97915614 [T/C] NM_000110 DPYD Silent exm76984 1 97915615 [A/G] NM_000110 DPYD EXON Synonymous_N635N rs17376848 1 97915624 [A/G] NM_000110 DPYD EXON Synonymous_F632F exm76986 1 97915655 [T/C] NM_000110 DPYD EXON Missense_C622Y newrs147601618 1 97915724 [A/G] NM_000110 DPYD EXON Missense_M599T rs3897854 1 97918306 [T/C] NM_000110 DPYD Silent rs11811436 1 97940231 [T/C] NM_000110 DPYD Silent rs12759539 1 97944341 [A/G] NM_000110 DPYD Silent rs11165880 1 97946840 [T/C] NM_000110 DPYD Silent exm2268730 1 97947883 [T/C] NM_000110 DPYD Silent rs2811188 1 97958108 [A/G] NM_000110 DPYD Silent rs2811183 1 97971252 [T/C] NM_000110 DPYD Silent rs7545340 1 97979726 [A/G] NM_000110 DPYD Silent exm76999 1 97981343 [A/C] NM_000110 DPYD EXON Missense_I560S SNP115 1 97981343 [A/C] NM_000110 DPYD EXON Missense_I560S exm77003 1 97981395 [T/C] NM_000110 DPYD EXON Missense_I543V exm77004 1 97981407 [T/C] NM_000110 DPYD EXON Missense_G539R exm77005 1 97981421 [T/C] NM_000110 DPYD EXON Missense_S534N rs2811174 1 97990575 [T/C] NM_000110 DPYD Silent rs12063030 1 98001389 [A/C] NM_000110 DPYD Silent rs2811165 1 98013052 [T/C] NM_000110 DPYD Silent kgp15885871 1 98015146 [T/C] NM_000110 DPYD EXON Synonymous_Q498Q newrs72549304 1 98015165 [A/G] NM_000110 DPYD EXON Missense_S492L kgp24842837 1 98015269 [A/G] NM_000110 DPYD EXON Synonymous_N457N exm77019 1 98015282 [C/G] NM_000110 DPYD EXON Missense_P453R exm77021 1 98015291 [A/G] NM_000110 DPYD EXON Missense_A450V rs2786529 1 98017090 [C/G] NM_000110 DPYD Silent rs12060391 1 98019997 [T/C] NM_000110 DPYD Silent exm77026 1 98039375 [A/G] NM_000110 DPYD EXON Missense_V427A exm77028 1 98039395 [T/A] NM_000110 DPYD EXON Missense_N420K kgp8738400 1 98039419 [T/C] NM_000110 DPYD EXON Synonymous_E412E exm77031 1 98039426 [T/C] NM_000110 DPYD EXON Missense_R410Q exm77032 1 98039437 [T/C] NM_000110 DPYD EXON Missense_M406I exm77038 1 98039526 [T/C] NM_000110 DPYD EXON Missense_M377V rs2811203 1 98057444 [T/C] NM_000110 DPYD Silent exm1956973 1 98058782 [A/G] NM_000110 DPYD EXON Missense_P374S variant.5114 1 98058832 [T/C] NM_000110 DPYD EXON Missense_R357H rs1042478 1 98058867 [A/G] NM_000110 DPYD EXON Synonymous_F345F hCV32294341 1 98058899 [A/C] NM_000110 DPYD EXON Missense_V335L rs2786498 1 98067147 [A/G] NM_000110 DPYD Silent rs7533902 1 98079228 [T/C] NM_000110 DPYD Silent rs13375516 1 98126717 [A/C] NM_000110 DPYD Silent rs2151563 1 98143266 [A/G] NM_000110 DPYD Silent exm77051 1 98144726 [T/C] NM_000110 DPYD EXON Missense_K259E variant.5117 1 98157272 [T/C] NM_000110 DPYD Silent rs6675198 1 98157279 [A/G] NM_000110 DPYD EXON Synonymous_G252G rs2786511 1 98157591 [T/C] NM_000110 DPYD Silent newrs146170505 1 98164926 [A/C] NM_000110 DPYD EXON Nonsense_E221X kgp15335138 1 98164948 [A/G] NM_000110 DPYD EXON Synonymous_D213D exm77059 1 98165030 [T/C] NM_000110 DPYD EXON Missense_Y186C exm77065 1 98165091 [T/C] NM_000110 DPYD EXON Missense_M166V kgp25180083 1 98185357 [T/C] NM_000110,NM_001160301 DPYD,DPYD EXON Silent,Silent kgp25205392 1 98185476 [T/C] NM_000110,NM_001160301 DPYD,DPYD EXON Silent,Silent rs2151562 1 98185527 [A/G] NM_000110,NM_001160301 DPYD,DPYD EXON Silent,Silent kgp12369057 1 98185700 [T/C] NM_000110,NM_001160301 DPYD,DPYD EXON Silent,Silent rs1333718 1 98186077 [T/C] NM_000110,NM_001160301 DPYD,DPYD EXON Silent,Silent kgp15897099 1 98186118 [A/G] NM_000110,NM_001160301 DPYD,DPYD EXON Silent,Silent kgp2286066 1 98186229 [T/C] NM_000110,NM_001160301 DPYD,DPYD EXON Silent,Silent kgp24802743 1 98186232 [T/C] NM_000110,NM_001160301 DPYD,DPYD EXON Silent,Silent variant.5122 1 98187061 [T/C] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent exm77072 1 98187098 [T/C] NM_000110,NM_001160301 DPYD,DPYD EXON Missense_N151D,Missense_N151D rs4304627 1 98187755 [T/C] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent rs17378455 1 98194845 [T/C] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent rs1958946 1 98195471 [T/G] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent rs12073005 1 98245622 [T/A] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent rs10747486 1 98253738 [A/G] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent rs13376217 1 98265943 [T/G] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent rs12568335 1 98274132 [T/C] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent rs1974204 1 98290577 [T/C] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent newrs189768576 1 98293683 [A/G] NM_000110,NM_001160301 DPYD,DPYD EXON Nonsense_R74X,Nonsense_R74X newrs141597515 1 98293695 [A/G] NM_000110,NM_001160301 DPYD,DPYD EXON Nonsense_R70X,Nonsense_R70X rs11165921 1 98334990 [T/G] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent variant.5127 1 98348820 [A/G] NM_000110,NM_001160301 DPYD,DPYD EXON Synonymous_F50F,Synonymous_F50F exm77084 1 98348885 [A/G] NM_000110,NM_001160301 DPYD,DPYD EXON Missense_R29C,Missense_R29C rs1801265 1 98348885 [A/G] NM_000110,NM_001160301 DPYD,DPYD EXON Missense_R29C,Missense_R29C pgxUn0003 1 98348908 [T/C] NM_000110,NM_001160301 DPYD,DPYD EXON Missense_R21Q,Missense_R21Q rs9662870 1 98378786 [A/C] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent rs6692580 1 98382114 [T/G] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent rs4970725 1 98394864 [A/G] rs9662365 1 98461443 [T/C] NR_046105 MIR137HG Silent rs2154402 1 98475522 [T/C] NR_046105 MIR137HG Silent rs6683447 1 98481750 [T/C] NR_046105 MIR137HG Silent rs9659996 1 98488863 [A/G] NR_046105 MIR137HG Silent rs11804556 1 98498441 [A/G] NR_046105 MIR137HG Silent exm-rs1625579 1 98502934 [T/G] NR_046105 MIR137HG Silent rs1198581 1 98530559 [T/C] rs11165950 1 98572374 [T/C] rs17117613 1 98576274 [T/C] rs355375 1 98588692 [A/G] rs12082064 1 98592888 [T/G] rs1487302 1 98595853 [A/C] rs4950107 1 98605732 [A/G] rs1507069 1 98616396 [T/G] rs17117845 1 98639563 [A/G] rs10493900 1 98645213 [A/G] rs822559 1 98652088 [T/G] rs10875133 1 98654113 [A/G] rs822555 1 98667546 [A/G] exm2260898 1 98683104 [T/C] NR_046088 LINC01776 Silent rs2031245 1 98687633 [A/C] NR_046088 LINC01776 Silent rs12724493 1 98689392 [A/C] NR_046088 LINC01776 Silent rs11165973 1 98719851 [A/G] NR_046088 LINC01776 Silent rs1155644 1 98720270 [T/C] NR_046088 LINC01776 Silent rs822607 1 98730925 [A/C] NR_046088 LINC01776 Silent rs7532495 1 98750003 [A/G] rs11165976 1 98755006 [T/C] rs11165979 1 98757816 [T/C] rs12120750 1 98764432 [T/G] rs1075032 1 98778347 [T/C] rs11165996 1 98799369 [A/C] rs1328307 1 98808760 [T/C] rs1013024 1 98819537 [A/G] rs10875144 1 98829960 [A/C] rs10875145 1 98843371 [A/G] rs7541400 1 98846773 [T/C] rs728656 1 98855166 [A/G] rs7548836 1 98856577 [T/C] rs10875150 1 98866206 [T/C] rs10157812 1 98883541 [A/G] rs12030530 1 98893908 [A/G] rs11166015 1 98904871 [A/C] rs7530588 1 98913843 [A/G] rs4950129 1 98928271 [A/G] rs316053 1 98954240 [T/C] rs566731 1 98964541 [T/C] rs1724950 1 98965621 [A/G] rs1594867 1 98983135 [A/G] exm2254121 1 98993058 [T/C] rs12123631 1 99010292 [T/C] rs995271 1 99037251 [T/C] rs1434367 1 99039299 [A/G] rs12069484 1 99072344 [T/C] rs12037161 1 99097963 [A/G] rs12088344 1 99101223 [T/C] rs12088202 1 99108828 [T/G] rs12731647 1 99113106 [A/G] rs4469760 1 99132070 [A/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 Silent,Silent,Silent,Silent rs4540678 1 99141448 [A/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 Silent,Silent,Silent,Silent variant.5128 1 99150440 [A/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 Silent,Silent,Silent,Silent exm2254130 1 99150473 [T/C] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 EXON Silent,Synonymous_S71S,Synonymous_S71S,Synonymous_S7S exm77103 1 99150610 [A/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 EXON Silent,Missense_R117K,Missense_R117K,Missense_R53K exm77106 1 99156634 [A/T] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 EXON Silent,Missense_S123T,Missense_S123T,Missense_S59T rs12138303 1 99160827 [T/C] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 Silent,Silent,Silent,Silent exm2234062 1 99161131 [A/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 EXON Silent,Missense_V233I,Missense_V178I,Missense_V169I exm77120 1 99161184 [A/C] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 EXON Silent,Missense_F250L,Missense_F195L,Missense_F186L exm77121 1 99161221 [A/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 EXON Silent,Missense_K263E,Missense_K208E,Missense_K199E exm77126 1 99164378 [A/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 EXON Silent,Missense_A319T,Missense_A264T,Missense_A255T exm77128 1 99164395 [A/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 EXON Silent,Missense_M324I,Missense_M269I,Missense_M260I rs4351664 1 99166681 [A/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 Silent,Silent,Silent,Silent rs4545356 1 99173681 [A/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 Silent,Silent,Silent,Silent exm-rs9727115 1 99177253 [A/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 Silent,Silent,Silent,Silent rs4545357 1 99180910 [T/C] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 Silent,Silent,Silent,Silent rs6678214 1 99184272 [T/C] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 Silent,Silent,Silent,Silent rs12725220 1 99184798 [A/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 Silent,Silent,Silent,Silent rs6702126 1 99199954 [A/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 Silent,Silent,Silent,Silent exm77133 1 99203835 [T/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 EXON Silent,Missense_A390S,Missense_A335S,Missense_A326S rs992708 1 99209727 [T/C] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 Silent,Silent,Silent,Silent rs12025763 1 99219716 [A/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 Silent,Silent,Silent,Silent rs3813786 1 99224250 [T/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 Silent,Silent,Silent,Silent rs4908025 1 99225068 [T/C] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 Silent,Silent,Silent,Silent rs2019213 1 99225627 [A/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 EXON Silent,Synonymous_E432E,Synonymous_E377E,Synonymous_E368E exm2254132 1 99225627 [A/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 EXON Silent,Synonymous_E432E,Synonymous_E377E,Synonymous_E368E exm77138 1 99225627 [A/G] NR_033716,NM_015976,NM_152238,NM_001364903 SNX7,SNX7,SNX7,SNX7 EXON Silent,Synonymous_E432E,Synonymous_E377E,Synonymous_E368E rs11166113 1 99230383 [T/C] rs9661188 1 99242767 [T/C] rs10875184 1 99245060 [T/C] rs9728271 1 99263348 [T/C] rs2696358 1 99289282 [A/G] rs1384164 1 99290291 [A/G] rs1013468 1 99302782 [A/G] rs4908084 1 99310398 [A/G] rs1482144 1 99334672 [T/C] rs1482162 1 99348900 [A/G] rs984271 1 99358358 [T/G] NM_001010861,NM_001037317 PLPPR5,PLPPR5 EXON Silent,Silent rs2391986 1 99373498 [A/G] NM_001010861,NM_001037317 PLPPR5,PLPPR5 Silent,Silent rs2046178 1 99373609 [T/G] NM_001010861,NM_001037317 PLPPR5,PLPPR5 Silent,Silent rs7555367 1 99374045 [T/G] NM_001010861,NM_001037317 PLPPR5,PLPPR5 Silent,Silent newrs112548482 1 99380337 [A/G] NM_001010861,NM_001037317 PLPPR5,PLPPR5 Silent,Silent indel.5134 1 99380348 [I/D] NM_001010861,NM_001037317 PLPPR5,PLPPR5 EXON rs1329465 1 99383364 [T/C] NM_001010861,NM_001037317 PLPPR5,PLPPR5 Silent,Silent exm1958579 1 99387446 [T/C] NM_001010861,NM_001037317 PLPPR5,PLPPR5 EXON Missense_V264I,Missense_V264I rs1329464 1 99410959 [A/G] NM_001010861,NM_001037317 PLPPR5,PLPPR5 Silent,Silent rs309080 1 99415713 [A/G] NM_001010861,NM_001037317 PLPPR5,PLPPR5 Silent,Silent rs309083 1 99416102 [T/G] NM_001010861,NM_001037317 PLPPR5,PLPPR5 Silent,Silent rs309087 1 99418647 [C/G] NM_001010861,NM_001037317 PLPPR5,PLPPR5 EXON Synonymous_V200V,Synonymous_V200V exm77164 1 99422194 [A/G] NM_001010861,NM_001037317 PLPPR5,PLPPR5 EXON Missense_P114L,Missense_P114L rs2149738 1 99435366 [A/G] NM_001010861,NM_001037317 PLPPR5,PLPPR5 Silent,Silent rs6692269 1 99472175 [A/C] NR_033940 LOC100129620 Silent rs11166158 1 99499591 [A/G] NR_033940 LOC100129620 Silent rs7530449 1 99515902 [T/G] NR_033940 LOC100129620 Silent rs7515995 1 99519111 [T/C] NR_033940 LOC100129620 Silent rs10158645 1 99532176 [T/G] NR_033940 LOC100129620 Silent rs11166167 1 99539892 [A/G] NR_033940 LOC100129620 Silent rs1505552 1 99549327 [T/C] NR_033940 LOC100129620 Silent rs1747985 1 99563065 [T/G] NR_033940 LOC100129620 Silent rs3850458 1 99566473 [T/C] NR_033940 LOC100129620 Silent rs3896046 1 99580912 [T/C] NR_033940 LOC100129620 Silent rs303386 1 99589379 [T/C] NR_033940 LOC100129620 Silent rs302748 1 99597328 [A/G] NR_033940 LOC100129620 Silent rs3889240 1 99601609 [T/G] NR_033940 LOC100129620 Silent rs863686 1 99610153 [A/G] NR_033940 LOC100129620 Silent rs302765 1 99618085 [T/C] rs683131 1 99636431 [T/C] rs819785 1 99655620 [A/G] rs680017 1 99667737 [A/G] rs12097141 1 99670492 [A/G] rs6660498 1 99682616 [A/G] rs7530667 1 99691732 [T/C] exm2268732 1 99691732 [T/C] rs12035062 1 99697631 [A/G] rs7528845 1 99698821 [T/C] rs17120117 1 99703278 [T/C] rs6683554 1 99706463 [T/C] rs712904 1 99723764 [T/C] rs12083740 1 99725220 [T/G] rs1456169 1 99733964 [T/G] NM_001166252,NM_014839 PLPPR4,PLPPR4 Silent,Silent rs712889 1 99748324 [T/C] NM_001166252,NM_014839 PLPPR4,PLPPR4 Silent,Silent rs712883 1 99756179 [T/C] NM_001166252,NM_014839 PLPPR4,PLPPR4 Silent,Silent rs12068295 1 99759889 [A/G] NM_001166252,NM_014839 PLPPR4,PLPPR4 Silent,Silent exm77203 1 99762301 [T/C] NM_001166252,NM_014839 PLPPR4,PLPPR4 EXON Missense_V139A,Missense_V139A exm77204 1 99762420 [A/G] NM_001166252,NM_014839 PLPPR4,PLPPR4 EXON Missense_V179I,Missense_V179I rs819908 1 99762659 [T/C] NM_001166252,NM_014839 PLPPR4,PLPPR4 Silent,Silent exm77206 1 99764770 [A/G] NM_001166252,NM_014839 PLPPR4,PLPPR4 EXON Missense_V240I,Missense_V240I rs819914 1 99765872 [A/G] NM_001166252,NM_014839 PLPPR4,PLPPR4 Silent,Silent newrs145222822 1 99766522 [A/G] NM_001166252,NM_014839 PLPPR4,PLPPR4 EXON Synonymous_S264S,Synonymous_S264S exm77216 1 99771308 [C/G] NM_001166252,NM_014839 PLPPR4,PLPPR4 EXON Missense_R287T,Missense_R345T variant.5136 1 99771931 [A/G] NM_001166252,NM_014839 PLPPR4,PLPPR4 EXON Missense_A495T,Missense_A553T exm77253 1 99772492 [A/G] NM_001166252,NM_014839 PLPPR4,PLPPR4 EXON Missense_R682G,Missense_R740G rs2148154 1 99783891 [A/G] rs12025099 1 99789514 [T/C] rs10493911 1 99811487 [A/G] rs12409296 1 99853467 [T/C] rs12021787 1 99864803 [T/C] exm2268916 1 99871756 [T/C] rs9919323 1 99872741 [T/C] rs17120312 1 99872972 [T/C] rs6577377 1 99882119 [T/C] rs12076764 1 99893902 [T/C] rs17120392 1 99902365 [T/C] rs6695717 1 99913450 [T/G] rs1935720 1 99926891 [A/C] rs11166251 1 99932948 [T/G] rs4408174 1 99946091 [A/G] NR_125951 LINC01708 Silent rs6577380 1 99963251 [A/C] rs2027358 1 99970499 [A/C] rs10875226 1 99970527 [A/G] rs12060602 1 99994648 [A/G] rs6678176 1 100000827 [T/C] rs12069019 1 100005477 [A/G] rs1339866 1 100019269 [A/C] rs1339856 1 100043789 [A/G] exm-rs7543130 1 100049785 [A/C] rs7543130 1 100049785 [A/C] rs17120729 1 100051580 [A/G] rs6702910 1 100059035 [T/C] rs6689789 1 100079760 [T/C] rs12729121 1 100081117 [T/G] rs17648010 1 100086858 [A/G] rs834979 1 100087162 [A/G] rs834972 1 100097419 [T/C] rs834963 1 100102788 [A/G] rs834961 1 100105385 [A/G] rs17405754 1 100107260 [T/C] rs834992 1 100116394 [T/C] NM_017734 PALMD Silent variant.5138 1 100127960 [T/C] NM_017734 PALMD Silent exm77264 1 100133249 [C/G] NM_017734 PALMD EXON Missense_E60Q exm77266 1 100133290 [A/C] NM_017734 PALMD EXON Missense_H73Q rs7549467 1 100140509 [A/G] NM_017734 PALMD Silent rs10875241 1 100145443 [A/G] NM_017734 PALMD Silent rs12122854 1 100147287 [A/G] NM_017734 PALMD Silent rs12067797 1 100148279 [A/G] NM_017734 PALMD Silent rs12136177 1 100149952 [T/C] NM_017734 PALMD Silent exm77274 1 100152300 [T/C] NM_017734 PALMD EXON Missense_L107S exm77277 1 100152345 [C/G] NM_017734 PALMD EXON Missense_R122T rs1338576 1 100152443 [T/C] NM_017734 PALMD Silent exm1689650 1 100152489 [A/G] NM_017734 PALMD EXON Missense_V124M exm77288 1 100154373 [T/C] NM_017734 PALMD EXON Missense_T186I rs6678252 1 100154467 [A/G] NM_017734 PALMD EXON Synonymous_V217V exm77294 1 100154502 [A/G] NM_017734 PALMD EXON Missense_N229S exm77295 1 100154510 [A/G] NM_017734 PALMD EXON Missense_D232N exm77303 1 100154643 [T/C] NM_017734,NR_037516 PALMD,MIR548AA1 EXON Missense_T276M,Silent exm77307 1 100154765 [T/C] NM_017734,NR_037516 PALMD,MIR548AA1 EXON Missense_F317L,Silent exm77308 1 100154778 [T/G] NM_017734,NR_037516 PALMD,MIR548AA1 EXON Missense_S321I,Silent exm77319 1 100155012 [T/C] NM_017734,NR_037516 PALMD,MIR548AA1 EXON Missense_I399T,Silent exm77322 1 100155051 [C/G] NM_017734,NR_037516 PALMD,MIR548AA1 EXON Missense_P412R,Silent exm77332 1 100155193 [T/G] NM_017734,NR_037516 PALMD,MIR548AA1 EXON Missense_E459D,Silent exm77341 1 100155359 [A/G] NM_017734,NR_037516 PALMD,MIR548AA1 EXON Missense_S515G,Silent exm77343 1 100155386 [A/G] NM_017734,NR_037516 PALMD,MIR548AA1 EXON Missense_A524T,Silent exm77345 1 100155425 [A/G] NM_017734,NR_037516 PALMD,MIR548AA1 EXON Missense_T537A,Silent rs3766588 1 100156658 [T/C] NM_017734,NR_037516 PALMD,MIR548AA1 Silent,Silent rs12406373 1 100166046 [T/C] NR_037516 MIR548AA1 Silent exm1689665 1 100174455 [T/C] NR_037516,NM_001013660,NM_001361041 MIR548AA1,FRRS1,FRRS1 EXON Silent,Missense_X627W,Silent exm77357 1 100174670 [T/C] NR_037516,NM_001013660,NM_001361041 MIR548AA1,FRRS1,FRRS1 EXON Silent,Missense_M555I,Missense_A565T variant.5145 1 100174767 [A/G] NR_037516,NM_001013660,NM_001361041 MIR548AA1,FRRS1,FRRS1 EXON Silent,Nonsense_Q549X,Missense_A558V variant.5146 1 100176357 [T/G] NR_037516,NM_001013660,NM_001361041 MIR548AA1,FRRS1,FRRS1 Silent,Silent,Silent var_1_100176385 1 100176385 [T/C] NR_037516,NM_001013660,NM_001361041 MIR548AA1,FRRS1,FRRS1 EXON Silent,Silent,Missense_H534R exm77359 1 100176431 [T/C] NR_037516,NM_001013660,NM_001361041 MIR548AA1,FRRS1,FRRS1 EXON Silent,Missense_G519R,Missense_G519R exm77366 1 100177699 [A/G] NR_037516,NM_001013660,NM_001361041 MIR548AA1,FRRS1,FRRS1 EXON Silent,Missense_T481I,Missense_T481I 1KG_1_100177980 1 100177980 [D/I] NR_037516,NM_001013660,NM_001361041 MIR548AA1,FRRS1,FRRS1 EXON exm77371 1 100178020 [T/G] NR_037516,NM_001013660,NM_001361041 MIR548AA1,FRRS1,FRRS1 EXON Silent,Missense_L459I,Missense_L459I exm77384 1 100182997 [C/G] NM_001013660,NM_001361041 FRRS1,FRRS1 EXON Missense_A402G,Missense_A402G exm77386 1 100183072 [A/G] NM_001013660,NM_001361041 FRRS1,FRRS1 EXON Missense_M377T,Missense_M377T variant.5149 1 100185163 [A/C] NM_001013660,NM_001361041 FRRS1,FRRS1 EXON Nonsense_Y349X,Nonsense_Y349X rs7531793 1 100190097 [A/G] NM_001013660,NM_001361041 FRRS1,FRRS1 Silent,Silent rs12127323 1 100190843 [A/C] NM_001013660,NM_001361041 FRRS1,FRRS1 Silent,Silent exm77394 1 100194126 [T/G] NM_001013660,NM_001361041 FRRS1,FRRS1 EXON Missense_T310N,Missense_T310N exm77395 1 100194151 [T/G] NM_001013660,NM_001361041 FRRS1,FRRS1 EXON Missense_Q302K,Missense_Q302K rs7547543 1 100194962 [A/G] NM_001013660,NM_001361041 FRRS1,FRRS1 Silent,Silent exm77401 1 100195206 [T/C] NM_001013660,NM_001361041 FRRS1,FRRS1 EXON Synonymous_R286R,Synonymous_R286R exm77403 1 100195231 [T/C] NM_001013660,NM_001361041 FRRS1,FRRS1 EXON Missense_R278Q,Missense_R278Q exm77404 1 100195237 [A/G] NM_001013660,NM_001361041 FRRS1,FRRS1 EXON Missense_T276M,Missense_T276M rs6670361 1 100200184 [T/C] NM_001013660,NM_001361041 FRRS1,FRRS1 Silent,Silent exm2249462 1 100203648 [T/C] NM_001013660,NM_001361041 FRRS1,FRRS1 EXON Synonymous_Q251Q,Synonymous_Q251Q indel.5152 1 100203747 [D/I] NM_001013660,NM_001361041 FRRS1,FRRS1 EXON exm77424 1 100206478 [A/C] NM_001013660,NM_001361041 FRRS1,FRRS1 EXON Missense_K149N,Missense_K149N exm2230631 1 100207765 [A/G] NM_001013660,NM_001361041 FRRS1,FRRS1 EXON Missense_P133L,Missense_P133L variant.5153 1 100212850 [T/C] NM_001013660,NM_001361041 FRRS1,FRRS1 EXON Synonymous_Q111Q,Synonymous_Q111Q exm77431 1 100212920 [T/C] NM_001013660,NM_001361041 FRRS1,FRRS1 EXON Missense_G88D,Missense_G88D exm77435 1 100214192 [A/T] NM_001013660,NM_001361041 FRRS1,FRRS1 EXON Missense_S45T,Missense_S45T exm77437 1 100214243 [T/C] NM_001013660,NM_001361041 FRRS1,FRRS1 EXON Missense_V28I,Missense_V28I exm77441 1 100214289 [T/C] NM_001013660,NM_001361041 FRRS1,FRRS1 EXON Missense_I12M,Missense_I12M rs2788517 1 100225317 [T/C] NM_001013660,NM_001361041 FRRS1,FRRS1 Silent,Silent rs12127190 1 100232074 [A/G] NM_001361041 FRRS1 Silent rs4908018 1 100234367 [A/C] rs6689305 1 100268991 [A/G] rs12401503 1 100271638 [T/C] rs1908150 1 100274681 [T/C] rs6577138 1 100274994 [A/G] rs6696562 1 100278603 [T/C] rs6663234 1 100280436 [A/G] exm77444 1 100316589 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Silent,Silent,Silent,Silent,Silent exm77452 1 100318245 [T/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Silent,Silent,Silent,Silent,Missense_I7S rs2307129 1 100327026 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent variant.5155 1 100327076 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Nonsense_R34X,Nonsense_R34X,Nonsense_R34X,Nonsense_R34X,Nonsense_R18X exm77457 1 100327088 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_T38A,Missense_T38A,Missense_T38A,Missense_T38A,Missense_T22A newrs35278779 1 100327088 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_T38A,Missense_T38A,Missense_T38A,Missense_T38A,Missense_T22A variant.5157 1 100327094 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Nonsense_Q40X,Nonsense_Q40X,Nonsense_Q40X,Nonsense_Q40X,Nonsense_Q24X exm77462 1 100327200 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_D75G,Missense_D75G,Missense_D75G,Missense_D75G,Missense_D59G newrs193186112 1 100327232 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Nonsense_Q86X,Nonsense_Q86X,Nonsense_Q86X,Nonsense_Q86X,Nonsense_Q70X exm77467 1 100327860 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_R114H,Missense_R114H,Missense_R114H,Missense_R114H,Missense_R98H exm77473 1 100329942 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_G154D,Missense_G154D,Missense_G154D,Missense_G154D,Missense_G138D exm77474 1 100330103 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_W208R,Missense_W208R,Missense_W208R,Missense_W208R,Missense_W192R rs2640911 1 100331265 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent rs574592 1 100331481 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent exm77479 1 100335977 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_Q229R,Missense_Q229R,Missense_Q229R,Missense_Q229R,Missense_Q213R exm77480 1 100336058 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_R256H,Missense_R256H,Missense_R256H,Missense_R256H,Missense_R240H exm77495 1 100340252 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_R323Q,Missense_R323Q,Missense_R323Q,Missense_R323Q,Missense_R307Q exm77498 1 100340312 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_R343Q,Missense_R343Q,Missense_R343Q,Missense_R343Q,Missense_R327Q exm77501 1 100340782 [T/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_K385N,Missense_K385N,Missense_K385N,Missense_K385N,Missense_K369N exm77503 1 100340787 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_R387Q,Missense_R387Q,Missense_R387Q,Missense_R387Q,Missense_R371Q exm77507 1 100340989 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_R421G,Missense_R421G,Missense_R421G,Missense_R421G,Missense_R405G exm77508 1 100342049 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_S440F,Missense_S440F,Missense_S440F,Missense_S440F,Missense_S424F exm77514 1 100342152 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Synonymous_P474P,Synonymous_P474P,Synonymous_P474P,Synonymous_P474P,Synonymous_P458P variant.5161 1 100342158 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent rs3736295 1 100342227 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent exm77522 1 100343254 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_R494H,Missense_R494H,Missense_R494H,Missense_R494H,Missense_R478H indel.5162 1 100343289 [I/D] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON exm77524 1 100343310 [A/T] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_T513S,Missense_T513S,Missense_T513S,Missense_T513S,Missense_T497S indel.5163 1 100343347 [I/D] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON variant.5164 1 100345603 [T/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent exm77528 1 100346211 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_H587Y,Missense_H587Y,Missense_H587Y,Missense_H587Y,Missense_H571Y exm77531 1 100346262 [T/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_F604V,Missense_F604V,Missense_F604V,Missense_F604V,Missense_F588V exm77535 1 100346337 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_E629K,Missense_E629K,Missense_E629K,Missense_E629K,Missense_E613K exm1689728 1 100346633 [T/A] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_H634L,Missense_H634L,Missense_H634L,Missense_H634L,Missense_H618L exm2249463 1 100346934 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Synonymous_S696S,Synonymous_S696S,Synonymous_S696S,Synonymous_S696S,Synonymous_S680S exm77549 1 100347187 [T/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_A750S,Missense_A750S,Missense_A750S,Missense_A750S,Missense_A734S exm77551 1 100347247 [C/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_G770R,Missense_G770R,Missense_G770R,Missense_G770R,Missense_G754R rs17409324 1 100349381 [A/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent exm77555 1 100349757 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_N797S,Missense_N797S,Missense_N797S,Missense_N797S,Missense_N781S exm77559 1 100349983 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_S841F,Missense_S841F,Missense_S841F,Missense_S841F,Missense_S825F variant.5166 1 100353580 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Nonsense_R910X,Nonsense_R910X,Nonsense_R910X,Nonsense_R910X,Nonsense_R894X exm77568 1 100356777 [T/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Synonymous_G938G,Synonymous_G938G,Synonymous_G938G,Synonymous_G938G,Synonymous_G922G exm77572 1 100356904 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_I981V,Missense_I981V,Missense_I981V,Missense_I981V,Missense_I965V exm77575 1 100357238 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_A1009V,Missense_A1009V,Missense_A1009V,Missense_A1009V,Missense_A993V exm77579 1 100358103 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_P1067S,Missense_P1067S,Missense_P1067S,Missense_P1067S,Missense_P1051S exm77580 1 100358107 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_Y1068C,Missense_Y1068C,Missense_Y1068C,Missense_Y1068C,Missense_Y1052C exm77587 1 100361925 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_G1115R,Missense_G1115R,Missense_G1115R,Missense_G1115R,Missense_G1099R indel.5168 1 100366383 [D/I] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON variant.5169 1 100368302 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Nonsense_R1218X,Nonsense_R1218X,Nonsense_R1218X,Nonsense_R1218X,Nonsense_R1202X exm1689759 1 100368318 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_G1223D,Missense_G1223D,Missense_G1223D,Missense_G1223D,Missense_G1207D rs1577541 1 100373601 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent exm77609 1 100376325 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_R1253H,Missense_R1253H,Missense_R1253H,Missense_R1253H,Missense_R1237H exm77610 1 100376331 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_N1255S,Missense_N1255S,Missense_N1255S,Missense_N1255S,Missense_N1239S indel.5171 1 100376381 [I/D] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON exm2249464 1 100376448 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent exm77620 1 100378008 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_R1295H,Missense_R1295H,Missense_R1295H,Missense_R1295H,Missense_R1279H rs6577147 1 100378651 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent exm77624 1 100379160 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_E1343K,Missense_E1343K,Missense_E1343K,Missense_E1343K,Missense_E1327K exm77625 1 100379185 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_K1351R,Missense_K1351R,Missense_K1351R,Missense_K1351R,Missense_K1335R indel.5173 1 100379191 [I/D] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON exm77627 1 100379209 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_R1359H,Missense_R1359H,Missense_R1359H,Missense_R1359H,Missense_R1343H exm77630 1 100380997 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_E1405G,Missense_E1405G,Missense_E1405G,Missense_E1405G,Missense_E1389G exm77633 1 100381989 [A/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_Y1428S,Missense_Y1428S,Missense_Y1428S,Missense_Y1428S,Missense_Y1412S exm77634 1 100382006 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_N1434D,Missense_N1434D,Missense_N1434D,Missense_N1434D,Missense_N1418D exm77636 1 100382037 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_N1444S,Missense_N1444S,Missense_N1444S,Missense_N1444S,Missense_N1428S exm77644 1 100382236 [G/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_T1477S,Missense_T1477S,Missense_T1477S,Missense_T1477S,Missense_T1461S exm77645 1 100382256 [A/G] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Missense_V1484I,Missense_V1484I,Missense_V1484I,Missense_V1484I,Missense_V1468I newrs12118058 1 100382265 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Nonsense_R1487X,Nonsense_R1487X,Nonsense_R1487X,Nonsense_R1487X,Nonsense_R1471X rs3766603 1 100388748 [T/C] NM_000642,NM_000644,NM_000028,NM_000643,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Silent,Silent,Silent,Silent,Silent rs12074648 1 100403265 [T/C] rs6703159 1 100405465 [T/C] rs1541044 1 100411287 [T/C] rs12146139 1 100458417 [A/G] NM_012243,NM_001271684,NM_001271685 SLC35A3,SLC35A3,SLC35A3 Silent,Silent,Silent exm77659 1 100459132 [A/G] NM_012243,NM_001271684,NM_001271685 SLC35A3,SLC35A3,SLC35A3 EXON Missense_V8I,Missense_V8I,Missense_V50I rs11166389 1 100466279 [A/G] NM_012243,NM_001271684,NM_001271685 SLC35A3,SLC35A3,SLC35A3 Silent,Silent,Silent exm77671 1 100476986 [C/G] NM_012243,NM_001271684,NM_001271685 SLC35A3,SLC35A3,SLC35A3 EXON Missense_M177I,Missense_M177I,Missense_M219I indel.5178 1 100480902 [I/D] NM_012243,NM_001271684,NM_001271685 SLC35A3,SLC35A3,SLC35A3 EXON rs473688 1 100492867 [A/G] rs12406605 1 100502690 [T/C] exm77711 1 100534070 [C/G] NM_033055 MFSD14A EXON Missense_I249M indel.5181 1 100534136 [I/D] NM_033055 MFSD14A EXON exm77729 1 100546162 [A/G] NM_033055 MFSD14A EXON Missense_I405V exm2273329 1 100547994 [T/C] NM_033055 MFSD14A EXON Silent exm1689824 1 100550937 [T/C] NM_194292,NM_001304829 SASS6,SASS6 EXON Missense_A641T,Missense_A474T indel.5182 1 100550952 [I/D] NM_194292,NM_001304829 SASS6,SASS6 EXON exm77749 1 100568614 [G/C] NM_194292,NM_001304829 SASS6,SASS6 EXON Missense_T524S,Missense_T357S variant.5186 1 100573275 [T/C] NM_194292,NM_001304829 SASS6,SASS6 Silent,Silent exm77771 1 100575930 [A/G] NM_194292,NM_001304829 SASS6,SASS6 EXON Missense_A260V,Missense_A93V exm77773 1 100575933 [A/G] NM_194292,NM_001304829 SASS6,SASS6 EXON Missense_A259V,Missense_A92V exm77774 1 100575941 [C/G] NM_194292,NM_001304829 SASS6,SASS6 EXON Missense_E256D,Missense_E89D indel.5189 1 100575953 [D/I] NM_194292,NM_001304829 SASS6,SASS6 EXON indel.5190 1 100576003 [D/I] NM_194292,NM_001304829 SASS6,SASS6 EXON exm77778 1 100576012 [T/C] NM_194292,NM_001304829 SASS6,SASS6 EXON Missense_E233K,Missense_E66K exm77782 1 100584647 [T/C] NM_194292,NM_001304829 SASS6,SASS6 EXON Nonsense_W199X,Nonsense_W32X exm77783 1 100584665 [T/C] NM_194292,NM_001304829 SASS6,SASS6 EXON Missense_D193G,Missense_D26G indel.5192 1 100586932 [D/I] NM_194292,NM_001304829 SASS6,SASS6 exm77792 1 100587105 [C/G] NM_194292,NM_001304829 SASS6,SASS6 EXON Missense_R104S,Silent exm77816 1 100598738 [T/C] NM_019083,NR_135078 TRMT13,TRMT13 EXON Missense_A5V,Silent exm77817 1 100598740 [T/A] NM_019083,NR_135078 TRMT13,TRMT13 EXON Missense_T6S,Silent exm77818 1 100598744 [T/C] NM_019083,NR_135078 TRMT13,TRMT13 EXON Missense_S7L,Silent exm77822 1 100598866 [A/G] NM_019083,NR_135078 TRMT13,TRMT13 EXON Missense_A48T,Silent exm77823 1 100598867 [T/C] NM_019083,NR_135078 TRMT13,TRMT13 EXON Missense_A48V,Silent exm77830 1 100602575 [T/C] NM_019083,NR_135078 TRMT13,TRMT13 EXON Synonymous_H65H,Silent rs561119 1 100603891 [A/G] NM_019083,NR_135078 TRMT13,TRMT13 Silent,Silent exm77839 1 100606023 [A/G] NM_019083,NR_135078 TRMT13,TRMT13 EXON Missense_N152D,Silent variant.5195 1 100606068 [T/C] NM_019083,NR_135078 TRMT13,TRMT13 EXON Nonsense_Q167X,Silent indel.5196 1 100606072 [D/I] NM_019083,NR_135078 TRMT13,TRMT13 exm77843 1 100606444 [A/C] NM_019083,NR_135078 TRMT13,TRMT13 EXON Missense_L180I,Silent rs499479 1 100612675 [A/G] NM_019083,NR_135078 TRMT13,TRMT13 Silent,Silent indel.5198 1 100613693 [I/D] NM_019083,NR_135078 TRMT13,TRMT13 EXON exm77873 1 100614629 [T/G] NM_019083,NR_135078,NM_144620,NM_001256387,NM_001256385,NM_001256386 TRMT13,TRMT13,LRRC39,LRRC39,LRRC39,LRRC39 EXON Silent,Silent,Missense_T326N,Missense_T326N,Silent,Missense_T326N exm1689894 1 100617941 [T/C] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_D318N,Missense_D318N,Missense_A318T,Missense_D318N exm77881 1 100617998 [T/C] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_E299K,Missense_E299K,Missense_E299K,Missense_E299K exm2249465 1 100618020 [A/G] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Synonymous_G291G,Synonymous_G291G,Synonymous_G291G,Synonymous_G291G exm77887 1 100620637 [T/G] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_P261Q,Missense_P261Q,Missense_P261Q,Missense_P261Q exm77890 1 100620713 [T/A] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_C236S,Missense_C236S,Missense_C236S,Missense_C236S exm77892 1 100620727 [T/C] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_R231Q,Missense_R231Q,Missense_R231Q,Missense_R231Q exm77893 1 100620728 [A/G] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Nonsense_R231X,Nonsense_R231X,Nonsense_R231X,Nonsense_R231X indel.5201 1 100621753 [D/I] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON exm77896 1 100621762 [T/G] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_N209H,Missense_N209H,Missense_N209H,Missense_N209H exm77906 1 100623806 [A/G] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_I165T,Missense_I165T,Missense_I165T,Missense_I165T exm77909 1 100623863 [T/C] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_K146R,Missense_K146R,Missense_K146R,Missense_K146R exm77912 1 100623922 [T/C] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Synonymous_G126G,Synonymous_G126G,Synonymous_G126G,Synonymous_G126G exm77913 1 100624830 [A/T] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_I121L,Missense_I121L,Missense_I121L,Missense_I121L exm77916 1 100624886 [A/G] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_I102T,Missense_I102T,Missense_I102T,Missense_I102T exm77918 1 100624961 [A/G] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_S77F,Missense_S77F,Missense_S77F,Missense_S77F exm77919 1 100626027 [T/A] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_W72R,Missense_W72R,Missense_W72R,Missense_W72R indel.5202 1 100626087 [D/I] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON variant.5203 1 100626105 [A/G] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Nonsense_R46X,Nonsense_R46X,Nonsense_R46X,Nonsense_R46X variant.5204 1 100626112 [T/C] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Nonsense_W43X,Nonsense_W43X,Nonsense_W43X,Nonsense_W43X exm77924 1 100626119 [T/C] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_R41Q,Missense_R41Q,Missense_R41Q,Missense_R41Q exm77925 1 100626120 [A/G] NM_144620,NM_001256387,NM_001256385,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_R41W,Missense_R41W,Missense_R41W,Missense_R41W rs2784172 1 100650664 [A/G] exm77936 1 100661842 [T/C] NM_001918 DBT EXON Missense_N473S variant.5205 1 100661917 [T/C] NM_001918 DBT EXON Nonsense_W448X exm77949 1 100672060 [T/C] NM_001918 DBT EXON Missense_S384G variant.5206 1 100672078 [A/G] NM_001918 DBT EXON Nonsense_Q378X exm77954 1 100676303 [A/G] NM_001918 DBT EXON Missense_F322L exm77956 1 100680411 [A/G] NM_001918 DBT EXON Missense_R301C exm77959 1 100680485 [A/C] NM_001918 DBT EXON Missense_F276C exm77964 1 100681587 [A/G] NM_001918 DBT EXON Missense_S242P exm77966 1 100681596 [T/C] NM_001918 DBT EXON Missense_I239V indel.5210 1 100681641 [D/I] NM_001918 DBT EXON exm77967 1 100681641 [A/C] NM_001918 DBT EXON Nonsense_E224X indel.5212 1 100681738 [I/D] NM_001918 DBT EXON rs6577156 1 100683627 [A/G] NM_001918 DBT Silent exm77972 1 100684204 [T/C] NM_001918 DBT EXON Missense_R178H exm77973 1 100684231 [T/C] NM_001918 DBT EXON Missense_R169Q variant.5213 1 100684304 [T/C] NM_001918 DBT Silent rs6682782 1 100693294 [A/G] NM_001918 DBT Silent exm77985 1 100706416 [A/G] NM_001918 DBT EXON Missense_C26R exm1689926 1 100715340 [T/C] NM_001918 DBT EXON Missense_N13D rs3806239 1 100731163 [A/G] NR_110435,NR_110434 RTCA-AS1,RTCA-AS1 Silent,Silent exm77992 1 100731968 [A/G] NM_001130841,NM_003729 RTCA,RTCA EXON Missense_M13V,Missense_M13V exm78007 1 100733845 [T/C] NM_001130841,NM_003729 RTCA,RTCA EXON Missense_T108I,Missense_T95I exm78016 1 100738983 [A/G] NM_001130841,NM_003729 RTCA,RTCA EXON Missense_I163V,Missense_I150V exm78023 1 100740449 [A/G] NM_001130841,NM_003729 RTCA,RTCA EXON Missense_I194M,Missense_I181M exm78026 1 100740475 [T/C] NM_001130841,NM_003729 RTCA,RTCA EXON Missense_T203I,Missense_T190I exm2249466 1 100740485 [T/C] NM_001130841,NM_003729 RTCA,RTCA EXON Synonymous_Y206Y,Synonymous_Y193Y exm78028 1 100740505 [G/C] NM_001130841,NM_003729 RTCA,RTCA EXON Missense_G213A,Missense_G200A exm78031 1 100741162 [A/G] NM_001130841,NM_003729 RTCA,RTCA EXON Missense_K221R,Missense_K208R rs10158777 1 100742399 [T/C] NM_001130841,NM_003729 RTCA,RTCA Silent,Silent variant.5225 1 100752760 [A/G] NM_001130841,NM_003729 RTCA,RTCA Silent,Silent exm78058 1 100756991 [A/T] NM_001130841,NM_003729 RTCA,RTCA EXON Missense_E357D,Missense_E344D exm78060 1 100757001 [A/G] NM_001130841,NM_003729 RTCA,RTCA EXON Missense_A361T,Missense_A348T rs6577166 1 100765696 [T/C] exm2268917 1 100771636 [T/C] rs3119187 1 100781361 [T/C] rs599215 1 100796296 [T/C] rs11166438 1 100800905 [T/G] exm78067 1 100818541 [A/G] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON Silent,Missense_A11T,Silent,Missense_A11T,Missense_A11T,Missense_A11T exm2230643 1 100819366 [A/G] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON Silent,Missense_N33S,Silent,Missense_N33S,Missense_N33S,Missense_N33S rs630646 1 100822776 [A/G] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A Silent,Silent,Silent,Silent,Silent,Silent rs17122338 1 100841993 [T/C] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A Silent,Silent,Silent,Silent,Silent,Silent rs7515882 1 100851842 [A/G] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A Silent,Silent,Silent,Silent,Silent,Silent rs10875290 1 100853755 [T/G] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A Silent,Silent,Silent,Silent,Silent,Silent exm78079 1 100856373 [G/C] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON Missense_A43G,Missense_A101G,Silent,Missense_A101G,Missense_A101G,Missense_A101G exm78081 1 100856380 [A/C] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON Synonymous_A45A,Synonymous_A103A,Silent,Synonymous_A103A,Synonymous_A103A,Synonymous_A103A rs17122383 1 100860339 [A/C] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A Silent,Silent,Silent,Silent,Silent,Silent exm2273666 1 100889838 [A/C] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON Missense_P66T,Missense_P124T,Silent,Missense_P124T,Missense_P124T,Missense_P124T indel.5227 1 100889844 [I/D] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON rs491675 1 100902936 [A/G] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A Silent,Silent,Silent,Silent,Silent,Silent rs11166454 1 100910367 [A/G] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A Silent,Silent,Silent,Silent,Silent,Silent rs11809079 1 100914270 [A/G] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A Silent,Silent,Silent,Silent,Silent,Silent rs10493922 1 100919788 [A/G] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A Silent,Silent,Silent,Silent,Silent,Silent exm78100 1 100928377 [A/G] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON Missense_V202M,Missense_V260M,Silent,Missense_V260M,Missense_V260M,Missense_V260M exm78105 1 100928410 [A/G] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON Missense_E213K,Missense_E271K,Silent,Missense_E271K,Missense_E271K,Missense_E271K rs7543221 1 100928424 [T/C] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON Synonymous_A217A,Synonymous_A275A,Silent,Synonymous_A275A,Synonymous_A275A,Synonymous_A275A exm78120 1 100949904 [A/G] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON Missense_R287Q,Missense_R345Q,Missense_R52Q,Missense_R345Q,Missense_R345Q,Missense_R345Q exm78122 1 100949960 [A/G] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210,NM_033313 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON Missense_I306V,Missense_I364V,Missense_I71V,Missense_I364V,Missense_I364V,Missense_I364V rs508020 1 100955532 [T/C] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A Silent,Silent,Silent,Silent,Silent rs1566212 1 100959325 [T/C] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A Silent,Silent,Silent,Silent,Silent variant.5230 1 100960486 [A/G] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON Missense_R359K,Missense_R417K,Missense_R124K,Missense_R417K,Missense_R417K exm78141 1 100964667 [A/G] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON Missense_Q477R,Missense_Q535R,Missense_Q242R,Missense_Q535R,Missense_Q535R exm78142 1 100964703 [T/G] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON Missense_L489R,Missense_L547R,Missense_L254R,Missense_L547R,Missense_L547R exm78149 1 100964774 [A/G] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON Missense_G513R,Missense_G571R,Missense_G278R,Missense_G571R,Missense_G571R exm78150 1 100964793 [T/C] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON Missense_A519V,Missense_A577V,Missense_A284V,Missense_A577V,Missense_A577V exm1689974 1 100964808 [A/G] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON Missense_R524H,Missense_R582H,Missense_R289H,Missense_R582H,Missense_R582H exm78151 1 100964826 [T/C] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON Missense_A530V,Silent,Missense_A295V,Missense_A588V,Silent exm1689975 1 100964928 [G/C] NM_001319211,NM_003672,NM_001319212,NM_033312,NM_001319210 CDC14A,CDC14A,CDC14A,CDC14A,CDC14A EXON Missense_A564G,Silent,Missense_A329G,Missense_A622G,Silent rs6680879 1 100965683 [T/C] NM_003672,NM_001319210 CDC14A,CDC14A Silent,Silent rs6666801 1 100967569 [A/G] NM_003672,NM_001319210 CDC14A,CDC14A Silent,Silent exm2230645 1 100983817 [T/C] NM_003672,NM_001319210 CDC14A,CDC14A EXON Missense_S589F,Silent rs10783134 1 100984092 [T/C] NM_003672,NM_001319210 CDC14A,CDC14A EXON Silent,Silent rs11166470 1 100991649 [A/C] rs6577175 1 100996074 [T/C] rs7555025 1 100997680 [T/C] exm78172 1 101005175 [T/G] NM_022049 GPR88 EXON Missense_R218L rs10875304 1 101010077 [A/G] rs12565245 1 101019326 [T/G] rs11166475 1 101022112 [A/G] rs721385 1 101029715 [A/G] rs4908066 1 101033520 [T/C] rs2783674 1 101036419 [A/G] rs2809797 1 101036877 [T/C] rs2809789 1 101041054 [A/C] rs10875317 1 101045438 [T/G] rs2783719 1 101048203 [A/G] rs11166487 1 101051786 [T/C] rs7415343 1 101077323 [T/C] rs945329 1 101084273 [T/C] rs1815519 1 101084542 [A/G] rs11583008 1 101085094 [A/G] rs4908086 1 101088124 [T/C] rs2484535 1 101107748 [T/C] NR_038914 LINC01349 Silent rs3844028 1 101111615 [A/C] NR_038914 LINC01349 Silent rs871151 1 101123737 [A/G] kgp10631877 1 101123830 [A/G] rs2491821 1 101126149 [T/C] rs6680254 1 101181397 [A/G] rs1041163 1 101183825 [T/C] exm78182 1 101185447 [A/G] NM_080682,NM_001078,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_A11T,Missense_A11T,Missense_A11T exm78215 1 101194687 [T/C] NM_080682,NM_001078,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Silent,Missense_S318F,Missense_S256F exm78224 1 101194884 [A/G] NM_080682,NM_001078,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Silent,Missense_T384A,Missense_T322A exm78227 1 101196787 [G/C] NM_080682,NM_001078,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_G321A,Missense_G413A,Missense_G351A exm78238 1 101197012 [A/G] NM_080682,NM_001078,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_H396R,Missense_H488R,Missense_H426R exm78246 1 101198105 [A/G] NM_080682,NM_001078,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_G461R,Missense_G553R,Missense_G491R exm78247 1 101198111 [G/C] NM_080682,NM_001078,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_L463V,Missense_L555V,Missense_L493V exm78255 1 101200146 [A/T] NM_080682,NM_001078,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_N535K,Missense_N627K,Missense_N565K exm78258 1 101200219 [A/G] NM_080682,NM_001078,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_A560T,Missense_A652T,Missense_A590T rs3917018 1 101202222 [A/G] NM_080682,NM_001078,NM_001199834 VCAM1,VCAM1,VCAM1 Silent,Silent,Silent exm78264 1 101203691 [A/G] NM_080682,NM_001078,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_N599S,Missense_N691S,Missense_N629S exm78269 1 101203765 [T/A] NM_080682,NM_001078,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_I624L,Missense_I716L,Missense_I654L rs4908093 1 101215995 [T/C] rs1028819 1 101222807 [A/G] rs6680442 1 101224146 [T/C] rs1887101 1 101230852 [A/G] rs10875335 1 101231300 [T/C] rs6577209 1 101255080 [A/C] rs11166514 1 101257825 [A/G] rs4907926 1 101285547 [A/G] rs1571046 1 101299216 [T/C] rs7541397 1 101322866 [A/G] rs12048904 1 101331536 [T/C] rs3188491 1 101338482 [A/G] NM_001261442,NM_001439,NM_001033025,NR_048570,NM_001261441,NM_001261440 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Silent,Silent,Silent,Silent,Silent,Silent variant.5232 1 101339635 [A/G] NM_001261442,NM_001439,NM_001033025,NR_048570,NM_001261441,NM_001261440 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Silent,Nonsense_R286X,Nonsense_R286X,Silent,Nonsense_R294X,Nonsense_R285X exm78281 1 101339635 [A/G] NM_001261442,NM_001439,NM_001033025,NR_048570,NM_001261441,NM_001261440 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Silent,Nonsense_R286X,Nonsense_R286X,Silent,Nonsense_R294X,Nonsense_R285X exm78284 1 101339737 [T/C] NM_001261442,NM_001439,NM_001033025,NR_048570,NM_001261441,NM_001261440 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Silent,Missense_I252V,Missense_I252V,Silent,Missense_I260V,Missense_I251V exm78286 1 101339776 [A/C] NM_001261442,NM_001439,NM_001033025,NR_048570,NM_001261441,NM_001261440 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Silent,Missense_D239Y,Missense_D239Y,Silent,Missense_D247Y,Missense_D238Y exm78289 1 101339787 [A/G] NM_001261442,NM_001439,NM_001033025,NR_048570,NM_001261441,NM_001261440 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Silent,Missense_A235V,Missense_A235V,Silent,Missense_A243V,Missense_A234V exm78292 1 101339863 [T/C] NM_001261442,NM_001439,NM_001033025,NR_048570,NM_001261441,NM_001261440 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Silent,Missense_M210V,Missense_M210V,Silent,Missense_M218V,Missense_M209V variant.5233 1 101339915 [A/C] NM_001261442,NM_001439,NM_001033025,NR_048570,NM_001261441,NM_001261440 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Silent,Nonsense_Y192X,Nonsense_Y192X,Silent,Nonsense_Y200X,Nonsense_Y191X exm78294 1 101339977 [T/C] NM_001261442,NM_001439,NM_001033025,NR_048570,NM_001261441,NM_001261440 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Synonymous_X148X,Missense_D172N,Missense_D172N,Silent,Missense_D180N,Missense_D171N variant.5234 1 101342352 [A/G] NM_001261442,NM_001439,NM_001033025,NR_048570,NM_001261441,NM_001261440 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Silent,Nonsense_Q168X,Nonsense_Q168X,Silent,Nonsense_Q176X,Nonsense_Q167X indel.5235 1 101343041 [D/I] NM_001261442,NM_001439,NM_001033025,NR_048570,NM_001261441,NM_001261440 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON variant.5236 1 101343065 [A/G] NM_001261442,NM_001439,NM_001033025,NR_048570,NM_001261441,NM_001261440 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Nonsense_R134X,Nonsense_R134X,Nonsense_R134X,Silent,Nonsense_R142X,Nonsense_R134X exm78302 1 101343250 [A/G] NM_001261442,NM_001439,NM_001033025,NR_048570,NM_001261441,NM_001261440 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_T72M,Missense_T72M,Missense_T72M,Silent,Missense_T80M,Missense_T72M exm1690021 1 101343310 [T/C] NM_001261442,NM_001439,NM_001033025,NR_048570,NM_001261441,NM_001261440 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_R52H,Missense_R52H,Missense_R52H,Silent,Missense_R60H,Missense_R52H exm78306 1 101343422 [G/C] NM_001261442,NM_001439,NM_001033025,NR_048570,NM_001261441,NM_001261440 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_G15R,Missense_G15R,Missense_G15R,Silent,Missense_G23R,Missense_G15R rs7543296 1 101348100 [A/C] NM_001261442,NM_001439,NM_001033025,NR_048570,NM_001261441,NM_001261440 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 Silent,Silent,Silent,Silent,Silent,Silent newrs77649301 1 101354386 [T/C] NM_001261442,NM_001439,NM_001033025,NR_048570,NM_001261441,NM_001261440 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Silent,Silent,Silent,Silent,Silent,Silent rs17123491 1 101361178 [T/C] exm78314 1 101361856 [T/C] NM_001144884,NM_133496 SLC30A7,SLC30A7 EXON Missense_P13L,Missense_P13L indel.5238 1 101376646 [I/D] NM_001144884,NM_133496 SLC30A7,SLC30A7 EXON exm78326 1 101377678 [C/G] NM_001144884,NM_133496 SLC30A7,SLC30A7 EXON Missense_A132G,Missense_A132G indel.5239 1 101377736 [I/D] NM_001144884,NM_133496 SLC30A7,SLC30A7 EXON exm78328 1 101377789 [A/G] NM_001144884,NM_133496 SLC30A7,SLC30A7 EXON Missense_G169D,Missense_G169D exm78333 1 101379273 [A/G] NM_001144884,NM_133496 SLC30A7,SLC30A7 EXON Missense_H189R,Missense_H189R exm78346 1 101387340 [A/G] NM_001144884,NM_133496 SLC30A7,SLC30A7 EXON Missense_G262D,Missense_G262D rs11581062 1 101407519 [A/G] NM_001144884,NM_133496 SLC30A7,SLC30A7 Silent,Silent exm78376 1 101456010 [A/G] NM_001077395,NM_001077394,NM_015958 DPH5,DPH5,DPH5 EXON Missense_S270F,Missense_S271F,Missense_S271F indel.5241 1 101456028 [D/I] NM_001077395,NM_001077394,NM_015958 DPH5,DPH5,DPH5 EXON variant.5242 1 101458208 [A/G] NM_001077395,NM_001077394,NM_015958 DPH5,DPH5,DPH5 EXON Nonsense_R207X,Nonsense_R207X,Nonsense_R207X exm78382 1 101458271 [A/G] NM_001077395,NM_001077394,NM_015958 DPH5,DPH5,DPH5 EXON Missense_R186W,Missense_R186W,Missense_R186W rs11583043 1 101466054 [T/C] NM_001077395,NM_001077394,NM_015958 DPH5,DPH5,DPH5 Silent,Silent,Silent indel.5244 1 101479319 [I/D] NM_001077395,NM_001077394,NM_015958 DPH5,DPH5,DPH5 EXON rs7530338 1 101484352 [A/G] NM_001077395,NM_001077394,NM_015958 DPH5,DPH5,DPH5 Silent,Silent,Silent variant.5245 1 101487198 [T/C] NM_001077395,NM_001077394,NM_015958 DPH5,DPH5,DPH5 EXON Missense_G87R,Missense_G87R,Missense_G87R exm78390 1 101487246 [T/C] NM_001077395,NM_001077394,NM_015958 DPH5,DPH5,DPH5 EXON Missense_D71N,Missense_D71N,Missense_D71N variant.5246 1 101487323 [T/C] NM_001077395,NM_001077394,NM_015958 DPH5,DPH5,DPH5 Silent,Silent,Silent exm78393 1 101490936 [T/C] NM_001077395,NM_001077394,NM_015958 DPH5,DPH5,DPH5 EXON Missense_V22I,Missense_V22I,Missense_V22I rs4409674 1 101543389 [T/G] NR_109849 LOC102606465 Silent exm-rs17410015 1 101551926 [T/C] NR_109849 LOC102606465 Silent rs10875350 1 101586819 [A/G] rs12746449 1 101589082 [T/C] rs12727971 1 101589175 [A/G] rs1983967 1 101606903 [T/C] rs7552136 1 101616430 [T/C] rs17123757 1 101622960 [T/C] rs625146 1 101624468 [T/C] rs7367938 1 101638999 [A/G] rs10875355 1 101647080 [A/G] rs1571498 1 101669840 [T/G] rs1041312 1 101669928 [A/G] rs12408201 1 101678531 [T/C] rs17123870 1 101684269 [T/C] rs12746702 1 101698388 [A/C] exm78397 1 101704572 [A/C] NM_001320730,NM_001400 S1PR1,S1PR1 EXON Missense_A11D,Missense_A11D exm78398 1 101704577 [C/G] NM_001320730,NM_001400 S1PR1,S1PR1 EXON Missense_R13G,Missense_R13G exm78400 1 101704674 [T/C] NM_001320730,NM_001400 S1PR1,S1PR1 EXON Missense_I45T,Missense_I45T exm78417 1 101705252 [T/C] NM_001320730,NM_001400 S1PR1,S1PR1 EXON Missense_R238C,Missense_R238C exm78418 1 101705274 [A/G] NM_001320730,NM_001400 S1PR1,S1PR1 EXON Missense_S245N,Missense_S245N rs2031959 1 101711783 [T/G] exm2259666 1 101711964 [T/G] rs9433755 1 101722623 [A/G] rs9434153 1 101725605 [T/C] rs11166576 1 101740406 [A/G] rs7519801 1 101743821 [T/G] rs17124020 1 101744821 [T/C] rs910633 1 101749974 [A/G] rs7520706 1 101751884 [T/G] rs7516960 1 101756557 [A/G] rs878485 1 101757026 [A/G] rs12041851 1 101767274 [A/G] rs1033634 1 101768868 [A/C] rs12137590 1 101772220 [A/G] rs2010845 1 101778236 [T/G] rs9433784 1 101784340 [T/G] rs4908127 1 101795029 [T/C] NR_126402 LINC01307 Silent rs4907933 1 101801342 [A/G] NR_126402 LINC01307 Silent rs12564407 1 101809218 [A/G] NR_126402 LINC01307 Silent rs4907938 1 101815604 [T/C] NR_126402 LINC01307 EXON Silent rs17124314 1 101829924 [T/C] NR_126402 LINC01307 Silent rs11164177 1 101830858 [T/C] NR_126402 LINC01307 Silent rs11164183 1 101847845 [T/C] rs6577244 1 101848719 [T/C] rs6577246 1 101850130 [A/G] rs1388452 1 101851347 [T/C] rs10493948 1 101857090 [T/G] rs7549900 1 101857117 [T/C] rs12403551 1 101864215 [A/G] rs10493947 1 101868793 [A/G] rs1491642 1 101868913 [A/G] rs1826316 1 101872865 [T/C] rs1602548 1 101876646 [T/G] rs17421741 1 101894763 [T/C] rs12118351 1 101919802 [A/G] rs11164201 1 101920805 [T/C] rs12069565 1 101924306 [A/G] rs1473510 1 101932014 [T/C] rs1777876 1 101933692 [T/C] exm-rs1948368 1 101938477 [A/G] rs1948368 1 101938477 [A/G] rs1361812 1 101939689 [T/G] rs1388456 1 101943194 [A/C] rs1612840 1 101943331 [A/G] rs1776904 1 101950270 [T/G] rs6668197 1 101962952 [T/C] rs430012 1 101963857 [T/C] rs406138 1 101971265 [T/C] rs263908 1 101973613 [A/C] rs263912 1 101975151 [T/G] rs11584636 1 101979504 [T/C] rs1343364 1 101991399 [T/C] rs12137486 1 101994207 [T/C] rs1418931 1 101995341 [A/G] rs4626910 1 102017100 [T/C] rs1484308 1 102024942 [T/G] rs4908165 1 102033539 [T/C] rs11164232 1 102051379 [T/G] rs10493958 1 102069696 [A/G] rs1484315 1 102080843 [T/C] rs12080747 1 102085498 [A/G] rs6672980 1 102087717 [A/G] rs7534027 1 102089787 [T/G] rs4908170 1 102090174 [A/C] rs4907947 1 102095912 [T/G] rs7514091 1 102110713 [T/C] rs11800181 1 102120197 [T/G] rs9803851 1 102159783 [T/C] exm2268919 1 102159783 [T/C] rs4907951 1 102166616 [A/C] rs11164278 1 102184478 [T/C] rs11164280 1 102192809 [A/G] rs6702059 1 102193300 [A/C] rs17426819 1 102194625 [A/G] rs10874506 1 102197513 [A/C] rs4908177 1 102200830 [A/C] rs2339135 1 102229165 [T/C] rs11164296 1 102236122 [A/C] rs1327583 1 102237818 [T/C] rs1470438 1 102239205 [A/G] rs1470436 1 102253545 [A/G] rs17468763 1 102254704 [A/G] variant.5249 1 102270045 [A/C] NM_001288821,NM_001288823,NR_110210,NM_058170,NR_110211,NR_110212 OLFM3,OLFM3,OLFM3,OLFM3,OLFM3,OLFM3 EXON Nonsense_E396X,Nonsense_E301X,Silent,Nonsense_E376X,Silent,Silent exm78444 1 102270082 [G/C] NM_001288821,NM_001288823,NR_110210,NM_058170,NR_110211,NR_110212 OLFM3,OLFM3,OLFM3,OLFM3,OLFM3,OLFM3 EXON Missense_K383N,Missense_K288N,Silent,Missense_K363N,Silent,Silent exm78460 1 102271702 [A/G] NM_001288821,NM_001288823,NR_110210,NM_058170,NR_110211,NR_110212 OLFM3,OLFM3,OLFM3,OLFM3,OLFM3,OLFM3 EXON Missense_T230I,Missense_T135I,Silent,Missense_T210I,Silent,Silent rs4907955 1 102271774 [A/G] NM_001288821,NM_001288823,NR_110210,NM_058170,NR_110211,NR_110212 OLFM3,OLFM3,OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent,Silent,Silent rs724479 1 102275057 [T/C] NM_001288821,NM_001288823,NR_110210,NM_058170,NR_110211,NR_110212 OLFM3,OLFM3,OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent,Silent,Silent rs724480 1 102275190 [T/C] NM_001288821,NM_001288823,NR_110210,NM_058170,NR_110211,NR_110212 OLFM3,OLFM3,OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent,Silent,Silent rs6577274 1 102284828 [A/G] NM_001288821,NM_001288823,NR_110210,NM_058170,NR_110211,NR_110212 OLFM3,OLFM3,OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent,Silent,Silent rs6661054 1 102294507 [T/C] NM_001288821,NM_001288823,NR_110210,NM_058170,NR_110211,NR_110212 OLFM3,OLFM3,OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent,Silent,Silent exm78469 1 102296236 [A/G] NM_001288821,NM_001288823,NR_110210,NM_058170,NR_110211,NR_110212 OLFM3,OLFM3,OLFM3,OLFM3,OLFM3,OLFM3 EXON Missense_H142Y,Missense_H47Y,Silent,Missense_H122Y,Silent,Silent exm78470 1 102296248 [A/G] NM_001288821,NM_001288823,NR_110210,NM_058170,NR_110211,NR_110212 OLFM3,OLFM3,OLFM3,OLFM3,OLFM3,OLFM3 EXON Missense_L138F,Missense_L43F,Silent,Missense_L118F,Silent,Silent rs6656847 1 102298765 [T/C] NM_001288821,NM_001288823,NR_110210,NM_058170,NR_110211,NR_110212 OLFM3,OLFM3,OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent,Silent,Silent rs6665643 1 102298999 [A/G] NM_001288821,NM_001288823,NR_110210,NM_058170,NR_110211,NR_110212 OLFM3,OLFM3,OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent,Silent,Silent variant.5251 1 102302434 [T/C] NM_001288821,NM_001288823,NR_110210,NM_058170,NR_110211,NR_110212 OLFM3,OLFM3,OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent,Silent,Silent exm78475 1 102302475 [T/C] NM_001288821,NM_001288823,NR_110210,NM_058170,NR_110211,NR_110212 OLFM3,OLFM3,OLFM3,OLFM3,OLFM3,OLFM3 EXON Missense_R79Q,Silent,Silent,Missense_R59Q,Silent,Silent rs9324336 1 102304094 [T/C] NM_001288821,NM_001288823,NR_110210,NM_058170,NR_110211,NR_110212 OLFM3,OLFM3,OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent,Silent,Silent rs769163 1 102304152 [T/C] NM_001288821,NM_001288823,NR_110210,NM_058170,NR_110211,NR_110212 OLFM3,OLFM3,OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent,Silent,Silent rs4907956 1 102312703 [T/G] NM_001288823,NR_110210,NM_058170,NR_110211 OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent rs2050572 1 102326159 [T/C] NM_001288823,NR_110210,NM_058170,NR_110211 OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent rs7528218 1 102344571 [A/C] NM_001288823,NR_110210,NM_058170,NR_110211,NR_033424 OLFM3,OLFM3,OLFM3,OLFM3,DNAJA1P5 Silent,Silent,Silent,Silent,Silent rs11800637 1 102357104 [A/C] NM_001288823,NR_110210,NM_058170,NR_110211,NR_033424 OLFM3,OLFM3,OLFM3,OLFM3,DNAJA1P5 Silent,Silent,Silent,Silent,Silent rs17125667 1 102357987 [T/C] NM_001288823,NR_110210,NM_058170,NR_110211,NR_033424 OLFM3,OLFM3,OLFM3,OLFM3,DNAJA1P5 Silent,Silent,Silent,Silent,Silent rs3748653 1 102359002 [T/C] NM_001288823,NR_110210,NM_058170,NR_110211,NR_033424 OLFM3,OLFM3,OLFM3,OLFM3,DNAJA1P5 EXON Silent,Silent,Silent,Silent,Silent rs17432141 1 102359362 [A/G] NM_001288823,NR_110210,NM_058170,NR_110211,NR_033424 OLFM3,OLFM3,OLFM3,OLFM3,DNAJA1P5 EXON Silent,Silent,Silent,Silent,Silent rs943556 1 102367162 [T/C] NM_001288823,NR_110210,NM_058170,NR_110211 OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent rs2000150 1 102376258 [A/C] NM_001288823,NR_110210,NM_058170,NR_110211 OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent rs7534442 1 102378636 [T/G] NM_001288823,NR_110210,NM_058170,NR_110211 OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent rs12060073 1 102386104 [A/G] NM_001288823,NR_110210,NM_058170,NR_110211 OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent exm2249471 1 102389733 [T/C] NM_001288823,NR_110210,NM_058170,NR_110211 OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent rs1336806 1 102393844 [A/G] NM_001288823,NR_110210,NM_058170,NR_110211 OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent rs1981159 1 102394835 [A/C] NM_001288823,NR_110210,NM_058170,NR_110211 OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent rs755181 1 102404247 [T/C] NM_001288823,NR_110210,NM_058170,NR_110211 OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent rs10782864 1 102417093 [A/G] NM_001288823,NR_110210,NM_058170,NR_110211 OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent rs17487709 1 102426168 [T/C] NM_001288823,NR_110210,NM_058170,NR_110211 OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent rs12737750 1 102427608 [T/C] NM_001288823,NR_110210,NM_058170,NR_110211 OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent rs4908203 1 102428709 [A/G] NM_001288823,NR_110210,NM_058170,NR_110211 OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent rs2339204 1 102443692 [A/C] NM_001288823,NR_110210,NM_058170,NR_110211 OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent rs1415102 1 102447116 [T/C] NM_001288823,NR_110210,NM_058170,NR_110211 OLFM3,OLFM3,OLFM3,OLFM3 Silent,Silent,Silent,Silent rs6657751 1 102469386 [T/C] rs1415094 1 102471839 [T/C] rs7529987 1 102477512 [T/G] rs10874533 1 102491704 [T/C] rs10493980 1 102540084 [A/G] rs6684718 1 102562640 [A/C] rs6661510 1 102565669 [T/G] rs12088003 1 102572944 [A/G] rs12563410 1 102587593 [T/C] rs7527051 1 102601950 [T/G] exm2264878 1 102608577 [A/G] rs9729206 1 102616451 [A/G] rs2000398 1 102618195 [A/G] rs1938344 1 102620164 [A/C] rs11164405 1 102629663 [T/C] rs1938350 1 102632935 [A/C] rs3008763 1 102647938 [T/G] rs1938368 1 102654557 [T/C] rs1938364 1 102667388 [A/G] rs4301653 1 102673499 [T/C] rs7530562 1 102681580 [A/G] rs11164417 1 102686309 [T/C] rs12139212 1 102694690 [T/C] rs17492399 1 102705824 [T/C] rs6577309 1 102714517 [T/C] rs952484 1 102717010 [T/G] rs2889234 1 102742475 [T/C] rs10158366 1 102743350 [A/G] rs10874577 1 102747793 [A/G] rs12407943 1 102760382 [T/G] rs12061042 1 102816541 [T/C] rs7411744 1 102826835 [T/C] rs1341910 1 102827023 [T/C] rs12047658 1 102827931 [T/G] rs11164488 1 102841195 [T/C] rs1591960 1 102843599 [A/G] rs12402460 1 102843725 [T/C] rs12043531 1 102862791 [A/C] rs10747427 1 102869841 [T/C] rs1417226 1 102883271 [T/C] rs12045655 1 102885930 [T/C] rs12060427 1 102922025 [A/G] rs3916220 1 102934974 [A/G] rs7550150 1 102938426 [T/C] rs12139288 1 102939690 [A/G] rs11164527 1 102957543 [T/C] rs10874621 1 102959259 [T/C] rs1340392 1 102961031 [A/G] rs17126670 1 102965685 [A/C] exm2268920 1 102968036 [T/C] rs12035823 1 102995218 [T/C] rs950061 1 102998264 [T/C] rs2889309 1 103010867 [T/C] rs7538167 1 103012046 [T/G] rs1607209 1 103024479 [A/G] rs4907976 1 103047426 [A/G] rs12723721 1 103062191 [T/C] rs11164556 1 103080187 [A/G] rs6577329 1 103118942 [A/G] exm-rs10874639 1 103133909 [A/G] rs1451033 1 103145383 [A/G] rs10782899 1 103155605 [A/G] rs11164585 1 103171943 [T/C] rs10493982 1 103171983 [A/G] exm2264879 1 103216881 [A/G] rs606756 1 103238392 [T/C] rs7528798 1 103250122 [T/C] rs582076 1 103250731 [T/C] rs10782904 1 103251006 [A/G] rs1451029 1 103255303 [T/C] rs1947285 1 103269431 [T/C] rs1241202 1 103305021 [A/C] rs11164621 1 103322312 [T/C] rs1031821 1 103326762 [A/G] rs9659030 1 103342392 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Silent,Silent,Silent,Silent exm78510 1 103345315 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_R1694H,Missense_R1733H,Missense_R1745H,Missense_R1617H exm2230660 1 103352512 [A/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_L1531P,Missense_L1570P,Missense_L1582P,Missense_L1454P exm78532 1 103354135 [G/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_P1497A,Missense_P1536A,Missense_P1548A,Missense_P1420A exm78533 1 103354138 [A/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_S1496P,Missense_S1535P,Missense_S1547P,Missense_S1419P rs1763347 1 103354428 [A/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Synonymous_G1465G,Synonymous_G1504G,Synonymous_G1516G,Synonymous_G1388G exm1690218 1 103354445 [A/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_P1460S,Missense_P1499S,Missense_P1511S,Missense_P1383S exm78541 1 103354472 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_I1451V,Missense_I1490V,Missense_I1502V,Missense_I1374V exm78549 1 103355059 [T/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_D1433E,Missense_D1472E,Missense_D1484E,Missense_D1356E exm78560 1 103364248 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_G1369S,Missense_G1408S,Missense_G1420S,Missense_G1292S rs1676504 1 103372655 [A/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent exm78569 1 103377744 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_A1314T,Missense_A1353T,Missense_A1365T,Missense_A1237T rs11164636 1 103377968 [A/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent exm78571 1 103379193 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Synonymous_P1305P,Synonymous_P1344P,Synonymous_P1356P,Synonymous_P1228P exm78579 1 103379918 [A/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_P1284L,Missense_P1323L,Missense_P1335L,Missense_P1207L rs3753841 1 103379918 [A/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_P1284L,Missense_P1323L,Missense_P1335L,Missense_P1207L exm78597 1 103381192 [A/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_V1232L,Missense_V1271L,Missense_V1283L,Missense_V1155L rs12138977 1 103393457 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent variant.5257 1 103400613 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent variant.5258 1 103400616 [A/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Synonymous_A1125A,Synonymous_A1164A,Synonymous_A1176A,Synonymous_A1048A rs1120519 1 103402184 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent rs2622865 1 103407999 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent rs2616009 1 103409558 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent rs12084902 1 103410124 [A/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent rs2615996 1 103420053 [A/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent rs1012282 1 103427381 [A/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent exm78648 1 103428312 [T/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_P935Q,Missense_P974Q,Missense_P986Q,Missense_P858Q exm2265032 1 103432657 [A/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent rs12118365 1 103438795 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent exm1690276 1 103444283 [A/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_P873L,Missense_P912L,Missense_P924L,Missense_P796L exm78670 1 103444970 [A/T] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_F821I,Missense_F860I,Missense_F872I,Missense_F744I rs12124588 1 103446620 [A/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent exm78672 1 103453238 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_R779Q,Missense_R818Q,Missense_R830Q,Missense_R702Q exm78693 1 103468332 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_D633N,Missense_D672N,Missense_D684N,Missense_D556N exm78699 1 103468820 [C/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_P611R,Missense_P650R,Missense_P662R,Missense_P534R exm78706 1 103470210 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_R579Q,Missense_R618Q,Missense_R630Q,Missense_R502Q variant.5263 1 103480067 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Synonymous_R485R,Synonymous_R524R,Synonymous_R536R,Synonymous_R408R exm78716 1 103480117 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_T469A,Missense_T508A,Missense_T520A,Missense_T392A exm78722 1 103481285 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_R437H,Missense_R476H,Missense_R488H,Missense_R360H exm-rs945748 1 103483514 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent variant.5264 1 103484416 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent exm78738 1 103488342 [T/A] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_F362I,Missense_F401I,Missense_F413I,Silent exm78745 1 103488522 [C/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_E302Q,Missense_E341Q,Missense_E353Q,Silent exm78747 1 103491102 [A/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_P283L,Missense_P322L,Missense_P334L,Silent exm78753 1 103491163 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_I263V,Missense_I302V,Missense_I314V,Silent newrs138792819 1 103491354 [A/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent exm78754 1 103491354 [A/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent exm78760 1 103491461 [T/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Silent,Silent,Missense_K276N,Silent exm78764 1 103491777 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Silent,Missense_T298A,Silent,Missense_T298A exm78767 1 103491824 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Silent,Missense_E282G,Silent,Missense_E282G rs7523441 1 103496620 [T/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent exm78774 1 103496754 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_Y233C,Missense_Y233C,Missense_Y233C,Missense_Y233C exm2273668 1 103540265 [A/G] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_T187M,Missense_T187M,Missense_T187M,Missense_T187M exm78800 1 103548477 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_G53E,Missense_G53E,Missense_G53E,Missense_G53E exm78801 1 103548489 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_N49S,Missense_N49S,Missense_N49S,Missense_N49S exm78803 1 103548497 [A/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_D46E,Missense_D46E,Missense_D46E,Missense_D46E exm78804 1 103548505 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_A44T,Missense_A44T,Missense_A44T,Missense_A44T rs11164669 1 103554167 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent rs1337195 1 103554293 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent rs6577353 1 103556959 [T/C] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent,Silent exm78807 1 103573683 [T/A] NR_134980,NM_001190709,NM_001854,NM_080629,NM_080630 COL11A1,COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Missense_T18S,Missense_T18S,Missense_T18S,Missense_T18S rs17127492 1 103576364 [A/G] rs7543626 1 103578334 [A/G] rs11802357 1 103584570 [T/C] rs11164689 1 103603452 [T/G] rs12063514 1 103610579 [T/C] rs6692914 1 103612069 [T/C] rs7550030 1 103623133 [A/C] rs11164724 1 103663625 [T/C] rs2889352 1 103669167 [A/G] rs6683683 1 103671460 [A/G] rs11164733 1 103673437 [A/G] rs17127592 1 103685695 [A/G] rs6682242 1 103709890 [A/C] rs10782928 1 103710333 [A/G] rs6689743 1 103715386 [T/C] rs1406130 1 103725629 [A/G] rs2376360 1 103734946 [A/G] rs7528387 1 103741344 [T/G] rs4907988 1 103744171 [A/G] rs2376362 1 103750676 [T/C] rs17127702 1 103754317 [T/G] rs17127731 1 103761463 [T/G] rs4907992 1 103763252 [A/G] rs1406135 1 103764640 [A/G] kgp11786646 1 103765339 [T/G] exm78819 1 104078809 [T/C] NM_017619 RNPC3 EXON Missense_P206L exm78829 1 104093571 [T/C] NM_017619 RNPC3 EXON Missense_I457T rs12132911 1 104113158 [T/C] NM_020978,NR_024438 AMY2B,ACTG1P4 EXON Silent,Silent exm78857 1 104116343 [A/G] NM_020978 AMY2B EXON Missense_R176H exm78858 1 104116375 [A/C] NM_020978 AMY2B EXON Missense_K187Q indel.5272 1 104116946 [I/D] NM_020978 AMY2B EXON var_1_104118138 1 104118138 [A/G] NM_020978 AMY2B EXON Nonsense_W359X newrs148454896 1 104118162 [T/C] NM_020978 AMY2B EXON Synonymous_N367N exm78905 1 104118163 [A/G] NM_020978 AMY2B Silent indel.5275 1 104118167 [D/I] NM_020978 AMY2B exm78922 1 104122045 [A/G] NM_020978 AMY2B EXON Missense_D487N exm78923 1 104122057 [T/C] NM_020978 AMY2B EXON Missense_H491Y rs12085609 1 104122556 [T/C] rs6661612 1 104128618 [A/G] indel.5277 1 104233915 [D/I] NM_001008219,NM_001346780,NM_001008221,NM_004038,NM_001008218 AMY1C,AMY1C,AMY1A,AMY1A,AMY1B exm79027 1 104297239 [A/G] NM_001346780,NM_001008221,NM_001008219,NM_004038,NM_001008218 AMY1C,AMY1A,AMY1C,AMY1A,AMY1B EXON Missense_A333T,Missense_A333T,Missense_A333T,Missense_A333T,Missense_A333T rs1930212 1 104324819 [A/G] rs10881479 1 104357400 [A/C] rs11185202 1 104375470 [T/C] rs1930199 1 104383975 [A/G] rs1930192 1 104408821 [A/C] rs11185316 1 104418619 [T/G] rs7531107 1 104436329 [T/C] rs1465132 1 104458885 [T/C] rs17015789 1 104469208 [A/G] rs1475190 1 104470622 [T/C] rs12731458 1 104480469 [T/G] rs3849298 1 104483838 [T/C] exm2265033 1 104484650 [A/G] rs4434842 1 104492118 [T/G] rs1576516 1 104498943 [T/C] rs11185345 1 104502333 [T/C] rs6694128 1 104505231 [A/G] rs12725332 1 104509012 [A/G] rs2208963 1 104529736 [T/G] rs1590902 1 104554482 [A/G] exm2264881 1 104561488 [A/G] rs12759387 1 104573697 [A/G] rs9435629 1 104576359 [T/C] rs7552098 1 104576954 [A/G] rs12736718 1 104591008 [A/C] rs3934285 1 104598941 [A/G] rs11185369 1 104603845 [A/G] rs4847155 1 104611637 [A/G] rs17018324 1 104631711 [A/G] rs932921 1 104634514 [T/C] rs1330401 1 104640211 [A/G] rs1932459 1 104661302 [T/C] rs11185384 1 104690071 [T/C] rs11577888 1 104696000 [A/G] rs17020664 1 104727130 [A/G] exm-rs12407548 1 104731827 [A/G] rs7527726 1 104736011 [A/C] exm2249477 1 104736156 [A/C] rs11185392 1 104751861 [A/C] rs11185393 1 104752001 [A/C] rs1928329 1 104766179 [A/G] rs1928327 1 104770475 [A/G] rs2317080 1 104789235 [A/G] rs11185408 1 104792257 [A/G] rs6586465 1 104800547 [T/G] rs1497659 1 104807341 [T/C] rs7526560 1 104818575 [T/C] rs12034300 1 104851904 [A/C] rs12035919 1 104851938 [T/C] rs12079175 1 104857913 [T/C] rs17021310 1 104858324 [T/C] rs2317259 1 104860634 [T/G] rs6700638 1 104872140 [T/G] rs6664343 1 104886613 [T/G] rs11811323 1 104886713 [A/G] rs10785866 1 104887259 [A/G] rs9325372 1 104889158 [A/G] rs17021432 1 104890559 [T/C] rs17021444 1 104893852 [T/C] rs4409662 1 104896161 [A/G] rs11185445 1 104898703 [A/G] rs12064032 1 104902248 [T/G] rs12723426 1 104907462 [T/C] rs12070824 1 104909552 [A/C] rs315154 1 104911326 [T/G] rs12057598 1 104930486 [T/C] rs10881154 1 104945065 [A/G] rs1448396 1 104957563 [A/G] rs12757818 1 104959857 [T/C] rs11184168 1 104974603 [A/G] rs2594664 1 104975728 [T/C] rs11184169 1 104978179 [T/C] rs10881158 1 104981506 [A/G] rs12041707 1 104989780 [A/G] rs1597178 1 104997184 [A/G] rs7411648 1 104997471 [T/C] rs9724701 1 105011378 [A/G] rs316977 1 105040651 [A/G] rs11184189 1 105041495 [T/C] rs373489 1 105057555 [T/C] rs316973 1 105057760 [T/C] rs316970 1 105061457 [A/G] rs316960 1 105067105 [A/G] rs316951 1 105076810 [T/C] rs2034388 1 105077882 [A/G] rs6695172 1 105086051 [T/C] rs12026360 1 105088785 [A/G] rs11184204 1 105099912 [T/G] rs1597181 1 105111413 [A/G] rs1118861 1 105128348 [A/C] rs12568560 1 105140299 [A/G] rs4847178 1 105144179 [T/C] rs12404332 1 105175991 [A/G] rs7537242 1 105181816 [A/C] rs12036108 1 105184308 [A/G] rs958515 1 105190881 [A/G] rs11184244 1 105199870 [T/C] rs7532749 1 105219763 [T/G] rs17021840 1 105227000 [A/G] rs7543757 1 105227914 [T/C] rs11184268 1 105246855 [T/C] rs6676838 1 105254006 [T/C] rs4272631 1 105254921 [A/G] rs12037801 1 105256299 [A/G] rs1904982 1 105259884 [A/G] rs12042705 1 105274807 [T/G] rs5000688 1 105286219 [T/C] rs2317613 1 105286754 [A/G] rs11579151 1 105292212 [T/C] rs10399652 1 105294293 [T/G] rs4539145 1 105300481 [A/G] rs4620554 1 105306516 [T/C] rs17015111 1 105325570 [T/C] rs4483421 1 105341180 [A/G] exm2259670 1 105347101 [A/G] rs6583061 1 105365300 [T/G] rs11802067 1 105374759 [A/G] rs9803714 1 105395113 [A/G] rs7411085 1 105424155 [A/G] rs12741933 1 105424848 [A/G] rs7542735 1 105429577 [A/G] rs2122688 1 105447842 [A/G] exm2264882 1 105447979 [A/G] rs12126615 1 105448030 [A/C] rs1376368 1 105449139 [T/C] rs6657845 1 105484805 [A/G] rs17015278 1 105486240 [A/G] rs2167300 1 105504651 [A/G] rs1451055 1 105516008 [T/C] rs896199 1 105518136 [A/G] rs12718026 1 105535421 [A/G] rs6699420 1 105547584 [A/G] rs3007632 1 105569132 [A/G] rs10881240 1 105588516 [T/C] rs6694548 1 105637914 [T/C] rs12030832 1 105643103 [A/G] rs12030805 1 105645248 [T/G] rs4847087 1 105647075 [A/G] rs10785729 1 105663975 [A/G] rs11184443 1 105666096 [T/C] rs2820355 1 105673424 [T/C] rs4847097 1 105674169 [T/C] rs12022901 1 105674386 [T/C] rs6687976 1 105674536 [T/G] rs4421638 1 105681907 [T/C] rs6682236 1 105697723 [A/G] rs5027215 1 105698163 [T/C] rs4325188 1 105700935 [A/G] rs4847034 1 105717631 [A/G] rs6676097 1 105720186 [T/C] rs4520462 1 105724511 [T/G] rs6667576 1 105725458 [T/C] rs11184462 1 105728264 [T/C] rs11184474 1 105741329 [T/C] rs4240951 1 105743667 [T/C] rs2842237 1 105756050 [T/C] rs12565217 1 105782314 [A/G] rs2809325 1 105799204 [A/G] rs2809312 1 105802587 [A/C] rs2842217 1 105805227 [T/G] rs7549655 1 105812373 [A/G] rs12096770 1 105817094 [T/C] rs2653976 1 105825561 [A/C] rs7544681 1 105831228 [A/C] rs6583142 1 105836241 [A/G] rs11184521 1 105846616 [T/G] rs2491642 1 105856143 [A/G] rs2491615 1 105868193 [T/G] kgp6417835 1 105868548 [T/C] rs7545222 1 105938823 [T/C] rs2502916 1 105941966 [A/G] rs2048840 1 105943783 [A/G] rs12026105 1 105953996 [A/G] rs4356105 1 105954220 [T/G] rs1913978 1 105960628 [A/G] rs12749064 1 105984113 [T/C] rs2502904 1 105995890 [T/C] rs12143797 1 106005333 [A/G] rs12023475 1 106006480 [A/G] rs2501603 1 106007141 [A/G] rs2502869 1 106009370 [T/C] rs1516161 1 106011788 [T/C] rs7415139 1 106026464 [T/C] rs1524108 1 106027747 [T/C] rs11184581 1 106037417 [A/G] rs6695016 1 106040066 [T/C] rs2255422 1 106052011 [T/C] rs11184596 1 106057617 [T/C] rs12044588 1 106061874 [T/C] rs34761229 1 106085976 [T/C] rs2341709 1 106089142 [A/G] rs12040852 1 106097579 [T/C] rs777082 1 106100248 [T/G] rs1710746 1 106102016 [A/G] rs6421299 1 106123365 [A/G] rs12024670 1 106130218 [A/C] rs7512214 1 106144662 [T/C] NR_125955 LINC01676 Silent rs12563805 1 106152813 [A/G] NR_125955,NR_125954 LINC01676,LINC01676 Silent,Silent rs12071793 1 106163378 [A/G] rs7550122 1 106164864 [A/G] rs12743318 1 106195966 [T/C] rs11184668 1 106210496 [A/C] rs790995 1 106228100 [A/G] rs12131617 1 106243672 [A/G] rs790970 1 106249145 [A/C] rs791007 1 106279726 [T/C] rs791004 1 106286316 [T/C] rs1856784 1 106298276 [T/C] rs791001 1 106303166 [A/G] rs1528685 1 106306104 [T/C] rs1163530 1 106314780 [A/G] rs1163482 1 106360040 [A/C] rs12033818 1 106368717 [A/G] rs17426528 1 106394977 [A/G] rs12028453 1 106405040 [A/C] rs790615 1 106412429 [A/G] rs17467366 1 106436919 [A/G] rs1524234 1 106438868 [T/G] rs182768 1 106464966 [T/C] rs329095 1 106474028 [A/G] NR_146609 LINC01677 Silent rs11184717 1 106477681 [A/C] NR_146609 LINC01677 Silent kgp11366829 1 106479772 [A/C] NR_146609 LINC01677 Silent rs7536668 1 106529404 [A/G] NR_146609 LINC01677 Silent rs11184726 1 106540583 [T/G] NR_146609 LINC01677 Silent rs12404525 1 106568613 [T/C] NR_146609 LINC01677 Silent rs12130096 1 106578086 [A/G] rs12090319 1 106595812 [A/G] rs11184747 1 106617673 [A/G] rs12411062 1 106624365 [A/C] rs6700635 1 106639555 [T/G] rs587675 1 106650268 [A/C] rs12035891 1 106655045 [A/C] rs11590544 1 106678806 [A/G] rs17016826 1 106687949 [A/C] rs12026453 1 106695375 [A/G] rs7528765 1 106721791 [T/G] rs12023696 1 106752234 [A/G] exm2249483 1 106774642 [A/G] rs9435409 1 106781612 [T/C] rs4503378 1 106787317 [T/C] rs12568304 1 106792422 [A/G] rs12090269 1 106799250 [A/G] rs12046841 1 106807178 [A/G] rs7533503 1 106807983 [T/C] rs7519669 1 106810917 [A/G] rs1537531 1 106815064 [A/G] rs1360707 1 106824204 [A/G] rs11184840 1 106834169 [A/G] rs6694017 1 106843482 [T/C] rs1928718 1 106848878 [T/C] rs11184847 1 106849846 [A/G] rs12734803 1 106870121 [A/G] rs6670501 1 106881800 [A/G] rs11184867 1 106885146 [A/G] rs11184870 1 106887181 [T/C] rs4915122 1 106896377 [A/G] rs7552126 1 106897428 [A/G] rs6659299 1 106901931 [T/C] rs17017008 1 106933123 [A/G] rs11184894 1 106945362 [A/G] rs12091443 1 106962010 [T/C] rs2182150 1 106967482 [A/G] rs7514699 1 106972853 [T/C] rs10158153 1 106979036 [T/C] rs7417032 1 106995427 [A/G] rs5008684 1 107045474 [T/C] rs726669 1 107053627 [T/C] rs10494043 1 107055711 [T/C] rs1925427 1 107076801 [T/C] rs17434983 1 107090200 [T/G] rs12567271 1 107107254 [A/G] rs4601615 1 107107290 [A/G] rs4915129 1 107113504 [T/C] rs7530540 1 107116802 [T/G] rs4545364 1 107125001 [T/C] rs11184938 1 107157877 [T/C] rs6697704 1 107162694 [T/C] exm2268922 1 107163979 [T/C] rs17017331 1 107175696 [T/G] rs12023595 1 107180296 [A/C] rs12137532 1 107180825 [A/C] rs10494048 1 107195059 [T/G] rs7555950 1 107205384 [T/C] rs12030878 1 107218775 [T/C] rs7545951 1 107218922 [A/G] rs10881442 1 107219644 [T/C] exm2264884 1 107220341 [A/G] rs4336881 1 107232816 [A/C] rs12034671 1 107235329 [A/G] rs1533670 1 107265058 [A/G] rs12085613 1 107294677 [T/C] rs7552695 1 107294919 [A/G] rs12133448 1 107298541 [A/G] rs10430083 1 107316651 [T/C] rs12097821 1 107336301 [T/G] rs6671394 1 107343141 [A/G] rs17017805 1 107361077 [A/G] NR_147165 LINC01661 Silent rs12080495 1 107376140 [T/G] NR_147165 LINC01661 Silent rs6678521 1 107387839 [T/C] rs12128098 1 107418424 [A/G] rs12086730 1 107420023 [A/C] rs1519878 1 107431974 [A/G] exm-rs12726652 1 107432576 [A/G] rs9651163 1 107440872 [T/C] rs12406116 1 107444101 [T/C] rs6677003 1 107448618 [A/C] rs4914934 1 107450890 [T/G] rs4304614 1 107455290 [A/G] rs12125971 1 107463643 [T/C] rs11185019 1 107481837 [T/C] rs9435418 1 107484628 [A/G] rs4641328 1 107494264 [T/G] rs6701777 1 107496153 [A/G] rs17495607 1 107501181 [T/C] rs9435334 1 107506014 [T/C] rs17443102 1 107516208 [A/G] rs9435337 1 107525991 [T/C] rs9435429 1 107526857 [A/G] rs12093106 1 107528432 [A/G] rs17496332 1 107546375 [A/G] rs6685716 1 107553330 [T/G] rs12032059 1 107558304 [A/G] rs3108680 1 107572997 [T/C] exm-rs4118325 1 107577832 [A/G] exm79040 1 107599482 [A/G] NM_018137 PRMT6 EXON Missense_E49K exm79062 1 107599918 [T/C] NM_018137 PRMT6 EXON Missense_A194V rs1730866 1 107604176 [A/C] rs6668299 1 107625615 [T/C] rs1762495 1 107634116 [T/C] rs4537589 1 107637882 [T/G] rs1762506 1 107656356 [T/C] rs17018425 1 107657674 [T/C] rs1335051 1 107658862 [A/C] rs6583007 1 107676684 [T/C] rs17018464 1 107688972 [T/C] NM_001312688,NM_014917,NM_001330665 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent exm79087 1 107691418 [T/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 EXON Missense_P68L,Missense_P68L,Missense_P68L,Missense_P68L,Missense_P68L rs17505643 1 107697660 [T/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs12743478 1 107701106 [T/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs7513206 1 107704952 [A/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs7553752 1 107706141 [T/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs4287207 1 107714954 [T/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent exm2263862 1 107725743 [A/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs10881456 1 107726492 [T/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs4292979 1 107735704 [A/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs6583016 1 107763924 [T/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs6671081 1 107809683 [A/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs4244126 1 107816751 [A/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs12133394 1 107817550 [T/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs7517024 1 107823943 [T/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs3123376 1 107825866 [A/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent exm-rs10494067 1 107830858 [A/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs11185082 1 107842708 [A/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs10494068 1 107844510 [A/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs12566028 1 107848612 [A/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs12049511 1 107850037 [T/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs7411507 1 107865978 [A/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs11185090 1 107868724 [T/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs6583021 1 107872446 [A/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs7555412 1 107872936 [A/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs12066815 1 107883043 [A/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs7555385 1 107889648 [T/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs17463719 1 107927932 [T/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs6681988 1 107930365 [T/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent exm2249486 1 107936393 [A/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs2218404 1 107952605 [T/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs12078289 1 107958969 [T/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent variant.5284 1 107963766 [A/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs11185112 1 107964274 [T/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs583169 1 107966962 [T/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent exm79127 1 107973414 [A/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 EXON Silent,Silent,Silent,Missense_D377G,Silent rs1444038 1 107981316 [A/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs11185115 1 107982992 [A/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs536124 1 107987813 [T/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs670053 1 107988218 [T/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs640554 1 107990065 [A/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs7522375 1 108014380 [T/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs3813218 1 108016292 [T/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs512719 1 108020853 [A/G] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 Silent,Silent,Silent,Silent,Silent rs597332 1 108024868 [T/C] NM_001312688,NM_014917,NM_001330665,NM_001113226,NM_001113228 NTNG1,NTNG1,NTNG1,NTNG1,NTNG1 EXON Silent,Silent,Silent,Silent,Silent rs17474549 1 108028617 [A/C] rs17019224 1 108031468 [A/G] rs12756322 1 108037997 [T/G] rs12089394 1 108045438 [A/G] rs12092544 1 108055112 [T/C] rs11185129 1 108070435 [T/C] rs12739227 1 108077102 [T/C] rs666003 1 108079945 [A/G] rs531284 1 108086798 [A/G] exm2264886 1 108088171 [A/G] rs10785826 1 108090429 [T/C] rs10881471 1 108095617 [T/G] rs8676 1 108113865 [A/G] NM_006113,NM_001079874 VAV3,VAV3 EXON Silent,Silent rs7549255 1 108116169 [A/G] NM_006113,NM_001079874 VAV3,VAV3 Silent,Silent exm79150 1 108116715 [A/G] NM_006113,NM_001079874 VAV3,VAV3 EXON Missense_T819I,Missense_T259I indel.5285 1 108116736 [D/I] NM_006113,NM_001079874 VAV3,VAV3 EXON rs1328199 1 108127895 [T/C] NM_006113,NM_001079874 VAV3,VAV3 Silent,Silent rs7554525 1 108135527 [T/C] NM_006113,NM_001079874 VAV3,VAV3 Silent,Silent exm1690772 1 108138962 [T/C] NM_006113,NM_001079874 VAV3,VAV3 EXON Missense_E741G,Missense_E181G rs6691069 1 108139636 [A/G] NM_006113,NM_001079874 VAV3,VAV3 Silent,Silent rs3828085 1 108143671 [A/G] NM_006113,NM_001079874 VAV3,VAV3 Silent,Silent exm79160 1 108145748 [T/C] NM_006113,NM_001079874 VAV3,VAV3 EXON Missense_E685K,Missense_E125K exm79162 1 108152557 [T/G] NM_006113,NM_001079874 VAV3,VAV3 EXON Missense_P671T,Missense_P111T rs6680257 1 108169834 [A/C] NM_006113,NM_001079874 VAV3,VAV3 Silent,Silent rs6693140 1 108181947 [T/C] NM_006113,NM_001079874 VAV3,VAV3 Silent,Silent exm79173 1 108185282 [T/C] NM_006113,NM_001079874 VAV3,VAV3 EXON Missense_V625I,Missense_V65I exm79175 1 108185301 [G/C] NM_006113,NM_001079874 VAV3,VAV3 EXON Missense_Q618H,Missense_Q58H exm79176 1 108185309 [A/G] NM_006113,NM_001079874 VAV3,VAV3 EXON Missense_P616S,Missense_P56S exm79177 1 108185314 [T/C] NM_006113,NM_001079874 VAV3,VAV3 EXON Missense_G614E,Missense_G54E exm79179 1 108185345 [A/G] NM_006113,NM_001079874 VAV3,VAV3 EXON Missense_S604P,Missense_S44P rs17019602 1 108188858 [A/G] NM_006113,NM_001079874 VAV3,VAV3 Silent,Silent rs12127467 1 108190253 [A/C] NM_006113,NM_001079874 VAV3,VAV3 Silent,Silent rs7543435 1 108202710 [A/G] NM_006113,NM_001079874 VAV3,VAV3 Silent,Silent rs4378232 1 108208282 [T/C] NM_006113,NM_001079874 VAV3,VAV3 Silent,Silent rs4639792 1 108212980 [T/C] NM_006113,NM_001079874 VAV3,VAV3 Silent,Silent rs6680436 1 108214333 [T/C] NM_006113,NM_001079874 VAV3,VAV3 Silent,Silent rs2494057 1 108238093 [T/C] NM_006113 VAV3 Silent rs12043814 1 108243851 [T/C] NM_006113 VAV3 Silent rs2494070 1 108247048 [A/G] NM_006113 VAV3 Silent rs12403629 1 108251323 [T/C] NM_006113 VAV3 Silent rs17019810 1 108268801 [T/C] NM_006113 VAV3 Silent rs7519428 1 108281720 [A/G] NM_006113 VAV3 Silent rs17019855 1 108285388 [A/G] NM_006113 VAV3 Silent rs6662917 1 108286191 [T/G] NM_006113 VAV3 Silent rs11185172 1 108286632 [T/C] NM_006113 VAV3 Silent rs6583045 1 108286971 [A/G] NM_006113 VAV3 Silent rs17019880 1 108288220 [T/C] NM_006113 VAV3 Silent exm79200 1 108291695 [A/G] NM_006113 VAV3 EXON Missense_S466F variant.5287 1 108293800 [A/G] NM_006113 VAV3 EXON Nonsense_R400X exm79215 1 108298086 [T/C] NM_006113 VAV3 EXON Missense_R379H exm79217 1 108299923 [A/G] NM_006113 VAV3 EXON Missense_T349I rs12142335 1 108302922 [A/G] NM_006113 VAV3 Silent variant.5288 1 108303404 [A/G] NM_006113 VAV3 Silent rs4415601 1 108304878 [T/G] NM_006113 VAV3 Silent exm79222 1 108307727 [A/T] NM_006113 VAV3 EXON Missense_T298S exm79225 1 108309153 [T/C] NM_006113 VAV3 EXON Missense_R246Q exm79226 1 108309154 [A/G] NM_006113 VAV3 EXON Missense_R246W rs7523266 1 108310224 [T/C] NM_006113 VAV3 Silent exm79230 1 108313258 [T/C] NM_006113 VAV3 EXON Synonymous_K216K variant.5291 1 108315356 [T/C] NM_006113 VAV3 Silent exm79235 1 108315357 [A/G] NM_006113 VAV3 EXON Synonymous_P185P indel.5293 1 108315416 [D/I] NM_006113 VAV3 EXON rs4914959 1 108319079 [A/G] NM_006113 VAV3 Silent exm79239 1 108319884 [T/C] NM_006113 VAV3 EXON Missense_D139N exm79243 1 108322065 [A/G] NM_006113 VAV3 EXON Missense_T124I rs17020104 1 108353670 [T/C] NM_006113 VAV3 Silent rs17485868 1 108356000 [A/G] NM_006113 VAV3 Silent rs4915077 1 108366016 [T/C] NM_006113 VAV3 Silent rs1380445 1 108386404 [T/G] NM_006113 VAV3 Silent rs6583052 1 108393409 [A/C] NM_006113 VAV3 Silent rs12128709 1 108397591 [T/C] NM_006113 VAV3 Silent rs1999487 1 108408983 [T/C] NM_006113 VAV3 Silent variant.5294 1 108417523 [T/C] NM_006113 VAV3 EXON Synonymous_K107K exm79252 1 108417605 [A/G] NM_006113 VAV3 EXON Missense_T80M rs345292 1 108425055 [A/G] NM_006113 VAV3 Silent rs11185201 1 108430942 [T/C] NM_006113 VAV3 Silent rs17020294 1 108441642 [T/C] NM_006113 VAV3 Silent rs10494083 1 108448202 [T/C] NM_006113 VAV3 Silent rs7548905 1 108459260 [A/C] NM_006113 VAV3 Silent rs345314 1 108462844 [T/C] NM_006113 VAV3 Silent rs345306 1 108467386 [T/G] NM_006113 VAV3 Silent rs345271 1 108498145 [T/C] NM_006113 VAV3 Silent rs6679376 1 108499929 [A/G] NM_006113 VAV3 Silent exm1690837 1 108507344 [A/G] NM_006113,NR_046653 VAV3,VAV3-AS1 EXON Missense_L50F,Silent exm79258 1 108507419 [A/G] NM_006113,NR_046653 VAV3,VAV3-AS1 EXON Missense_W25R,Silent exm79261 1 108507469 [A/G] NM_006113,NR_046653 VAV3,VAV3-AS1 EXON Missense_A8V,Silent exm79262 1 108507473 [A/C] NM_006113,NR_046653 VAV3,VAV3-AS1 EXON Missense_C7G,Silent rs345261 1 108514072 [T/C] NR_046653 VAV3-AS1 Silent rs2035014 1 108521703 [A/G] NR_046653 VAV3-AS1 Silent exm2268923 1 108523670 [T/G] NR_046653 VAV3-AS1 Silent rs2000259 1 108534241 [A/C] NR_046653 VAV3-AS1 Silent rs1777467 1 108554161 [A/G] rs1781050 1 108557705 [T/C] rs1781067 1 108568011 [A/G] rs1418992 1 108568620 [T/C] rs4915093 1 108572106 [A/G] rs9803640 1 108576267 [A/C] rs1777458 1 108585993 [T/G] rs1618973 1 108586767 [T/C] rs17020774 1 108594594 [T/C] rs2995706 1 108607571 [T/C] rs7531042 1 108609194 [T/C] rs1777479 1 108612077 [A/C] rs1343192 1 108613888 [T/C] rs1781064 1 108615524 [A/G] rs12034547 1 108635284 [T/G] rs2336126 1 108640905 [A/G] rs4083872 1 108646557 [T/G] rs12742113 1 108652454 [T/C] rs501273 1 108654328 [A/C] rs614499 1 108656238 [A/C] rs515194 1 108657934 [A/G] rs1660419 1 108661636 [A/C] rs1777450 1 108663295 [T/C] rs11185274 1 108665402 [T/C] indel.5295 1 108679297 [D/I] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON variant.5296 1 108679412 [A/G] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Nonsense_R414X,Nonsense_R433X variant.5297 1 108679415 [A/G] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Nonsense_R413X,Nonsense_R432X rs17513833 1 108680234 [T/C] NM_213651,NM_013386 SLC25A24,SLC25A24 Silent,Silent exm2276848 1 108681756 [A/G] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Synonymous_C372C,Synonymous_C391C exm79278 1 108681795 [T/G] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Missense_K359N,Missense_K378N 1KG_1_108681808 1 108681808 [D/I] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON exm79280 1 108681808 [T/C] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Missense_D355G,Missense_D374G exm79283 1 108690906 [T/C] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Missense_M290V,Missense_M309V exm79286 1 108690963 [T/C] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Missense_E271K,Missense_E290K rs6703140 1 108697224 [T/C] NM_213651,NM_013386 SLC25A24,SLC25A24 Silent,Silent newrs147531188 1 108697712 [A/G] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Nonsense_R220X,Nonsense_R239X rs829001 1 108698658 [A/G] NM_213651,NM_013386 SLC25A24,SLC25A24 Silent,Silent exm79296 1 108700128 [A/G] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Nonsense_R190X,Nonsense_R209X indel.5301 1 108700183 [I/D] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON exm79302 1 108703824 [A/G] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Missense_R145C,Missense_R164C exm79306 1 108703852 [A/C] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Missense_N135K,Missense_N154K rs829004 1 108711268 [T/C] NM_213651,NM_013386 SLC25A24,SLC25A24 Silent,Silent newrs143444253 1 108724588 [A/G] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON Nonsense_Q106X,Nonsense_Q125X indel.5304 1 108724605 [D/I] NM_213651,NM_013386 SLC25A24,SLC25A24 EXON rs597999 1 108726389 [T/C] NM_213651,NM_013386 SLC25A24,SLC25A24 Silent,Silent exm2268737 1 108737586 [T/C] NM_013386 SLC25A24 Silent rs594397 1 108741065 [T/C] NM_013386 SLC25A24 Silent rs828999 1 108744934 [A/G] rs7538977 1 108753833 [A/G] rs7418288 1 108754099 [A/G] rs6583070 1 108756690 [A/G] exm79346 1 108766348 [A/C] NM_001143989 NBPF4 EXON Missense_R632S rs2336016 1 108854166 [A/G] rs10881518 1 108857903 [T/C] rs6670555 1 108860573 [T/G] rs1417300 1 108871245 [T/C] rs11185318 1 108876270 [T/C] rs2275563 1 108877608 [T/G] kgp2153968 1 108878713 [T/C] rs12408504 1 109023455 [T/C] rs7512643 1 109042271 [A/G] rs6604133 1 109074350 [A/G] rs12039852 1 109075236 [A/G] rs1566254 1 109093791 [T/G] rs2798184 1 109096332 [T/C] exm79423 1 109103124 [A/G] NM_001010883 FAM102B EXON Missense_N25S rs6683552 1 109113463 [T/C] NM_001010883 FAM102B Silent rs2804259 1 109126504 [T/C] NM_001010883 FAM102B Silent rs17025159 1 109154667 [T/C] NM_001010883 FAM102B Silent exm79431 1 109154858 [A/G] NM_001010883 FAM102B EXON Missense_R116H exm79433 1 109154881 [A/C] NM_001010883 FAM102B EXON Missense_T124P exm79442 1 109170871 [T/G] NM_001010883 FAM102B EXON Missense_Q213H exm79446 1 109171175 [A/G] NM_001010883 FAM102B EXON Missense_K271E exm79458 1 109177748 [A/T] NM_001010883 FAM102B EXON Nonsense_Y353X rs10494093 1 109187595 [T/G] rs2358530 1 109188382 [A/G] exm79464 1 109191219 [T/C] NM_001102592,NM_144584 HENMT1,HENMT1 EXON Missense_R384H,Missense_R384H exm79468 1 109191298 [T/C] NM_001102592,NM_144584 HENMT1,HENMT1 EXON Missense_N358D,Missense_N358D exm79469 1 109191310 [A/G] NM_001102592,NM_144584 HENMT1,HENMT1 EXON Missense_R354C,Missense_R354C exm79475 1 109191409 [T/C] NM_001102592,NM_144584 HENMT1,HENMT1 EXON Missense_V321I,Missense_V321I variant.5309 1 109193012 [T/C] NM_001102592,NM_144584 HENMT1,HENMT1 Silent,Silent variant.5310 1 109193675 [T/C] NM_001102592,NM_144584 HENMT1,HENMT1 EXON Nonsense_W185X,Nonsense_W185X exm79488 1 109193733 [T/G] NM_001102592,NM_144584 HENMT1,HENMT1 EXON Missense_E166A,Missense_E166A exm79495 1 109197351 [T/C] NM_001102592,NM_144584 HENMT1,HENMT1 EXON Missense_T129A,Missense_T129A exm79499 1 109197393 [T/C] NM_001102592,NM_144584 HENMT1,HENMT1 EXON Missense_V115I,Missense_V115I variant.5311 1 109198206 [A/G] NM_001102592,NM_144584 HENMT1,HENMT1 Silent,Silent variant.5312 1 109200068 [A/C] NM_001102592,NM_144584 HENMT1,HENMT1 Silent,Silent exm79510 1 109200108 [T/C] NM_001102592,NM_144584 HENMT1,HENMT1 EXON Missense_V39I,Missense_V39I variant.5314 1 109200147 [A/G] NM_001102592,NM_144584 HENMT1,HENMT1 EXON Nonsense_Q26X,Nonsense_Q26X exm79514 1 109200189 [T/C] NM_001102592,NM_144584 HENMT1,HENMT1 EXON Missense_V12I,Missense_V12I variant.5315 1 109202481 [A/G] NM_001102592,NM_144584 HENMT1,HENMT1 Silent,Silent rs6665861 1 109208995 [T/C] rs2297563 1 109241669 [A/G] NM_001349769,NM_001349770,NM_001349768,NM_001349767,NM_001349766,NM_001349759,NM_001349764,NM_001349762,NM_001349763,NM_001349758,NM_001349771,NM_001349761,NM_001349757,NM_001349765,NM_018061 PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm79551 1 109242056 [A/G] NM_001349769,NM_001349770,NM_001349768,NM_001349767,NM_001349766,NM_001349759,NM_001349764,NM_001349762,NM_001349763,NM_001349758,NM_001349771,NM_001349761,NM_001349757,NM_001349765,NM_018061 PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B EXON Missense_R155K,Missense_R155K,Missense_R155K,Missense_R155K,Missense_R155K,Missense_R168K,Missense_R170K,Missense_R207K,Missense_R170K,Missense_R168K,Missense_R155K,Missense_R207K,Missense_R241K,Missense_R170K,Missense_R352K indel.5318 1 109242141 [I/D] NM_001349769,NM_001349770,NM_001349768,NM_001349767,NM_001349766,NM_001349759,NM_001349764,NM_001349762,NM_001349763,NM_001349758,NM_001349771,NM_001349761,NM_001349757,NM_001349765,NM_018061 PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B EXON exm79558 1 109242185 [A/G] NM_001349769,NM_001349770,NM_001349768,NM_001349767,NM_001349766,NM_001349759,NM_001349764,NM_001349762,NM_001349763,NM_001349758,NM_001349771,NM_001349761,NM_001349757,NM_001349765,NM_018061 PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B EXON Missense_R198K,Missense_R198K,Missense_R198K,Missense_R198K,Missense_R198K,Missense_R211K,Missense_R213K,Missense_R250K,Missense_R213K,Missense_R211K,Missense_R198K,Missense_R250K,Missense_R284K,Missense_R213K,Missense_R395K exm79560 1 109242232 [T/C] NM_001349769,NM_001349770,NM_001349768,NM_001349767,NM_001349766,NM_001349759,NM_001349764,NM_001349762,NM_001349763,NM_001349758,NM_001349771,NM_001349761,NM_001349757,NM_001349765,NM_018061 PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B EXON Missense_R214W,Missense_R214W,Missense_R214W,Missense_R214W,Missense_R214W,Missense_R227W,Missense_R229W,Missense_R266W,Missense_R229W,Missense_R227W,Missense_R214W,Missense_R266W,Missense_R300W,Missense_R229W,Missense_R411W exm79566 1 109242392 [A/G] NM_001349769,NM_001349770,NM_001349768,NM_001349767,NM_001349766,NM_001349759,NM_001349764,NM_001349762,NM_001349763,NM_001349758,NM_001349771,NM_001349761,NM_001349757,NM_001349765,NM_018061 PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B EXON Missense_K267R,Missense_K267R,Missense_K267R,Missense_K267R,Missense_K267R,Missense_K280R,Missense_K282R,Missense_K319R,Missense_K282R,Missense_K280R,Missense_K267R,Missense_K319R,Missense_K353R,Missense_K282R,Missense_K464R indel.5320 1 109242455 [I/D] NM_001349769,NM_001349770,NM_001349768,NM_001349767,NM_001349766,NM_001349759,NM_001349764,NM_001349762,NM_001349763,NM_001349758,NM_001349771,NM_001349761,NM_001349757,NM_001349765,NM_018061 PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B EXON exm79570 1 109242500 [A/G] NM_001349769,NM_001349770,NM_001349768,NM_001349767,NM_001349766,NM_001349759,NM_001349764,NM_001349762,NM_001349763,NM_001349758,NM_001349771,NM_001349761,NM_001349757,NM_001349765,NM_018061 PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B EXON Missense_R303H,Missense_R303H,Missense_R303H,Missense_R303H,Missense_R303H,Missense_R316H,Missense_R318H,Missense_R355H,Missense_R318H,Missense_R316H,Missense_R303H,Missense_R355H,Missense_R389H,Missense_R318H,Missense_R500H variant.5321 1 109242574 [T/C] NM_001349769,NM_001349770,NM_001349768,NM_001349767,NM_001349766,NM_001349759,NM_001349764,NM_001349762,NM_001349763,NM_001349758,NM_001349771,NM_001349761,NM_001349757,NM_001349765,NM_018061 PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B EXON Nonsense_R328X,Nonsense_R328X,Nonsense_R328X,Nonsense_R328X,Nonsense_R328X,Nonsense_R341X,Nonsense_R343X,Nonsense_R380X,Nonsense_R343X,Nonsense_R341X,Nonsense_R328X,Nonsense_R380X,Nonsense_R414X,Nonsense_R343X,Nonsense_R525X exm79578 1 109242617 [A/G] NM_001349769,NM_001349770,NM_001349768,NM_001349767,NM_001349766,NM_001349759,NM_001349764,NM_001349762,NM_001349763,NM_001349758,NM_001349771,NM_001349761,NM_001349757,NM_001349765,NM_018061 PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B EXON Missense_H342R,Missense_H342R,Missense_H342R,Missense_H342R,Missense_H342R,Missense_H355R,Missense_H357R,Missense_H394R,Missense_H357R,Missense_H355R,Missense_H342R,Missense_H394R,Missense_H428R,Missense_H357R,Missense_H539R exm79579 1 109242622 [A/G] NM_001349769,NM_001349770,NM_001349768,NM_001349767,NM_001349766,NM_001349759,NM_001349764,NM_001349762,NM_001349763,NM_001349758,NM_001349771,NM_001349761,NM_001349757,NM_001349765,NM_018061 PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B,PRPF38B EXON Missense_N344D,Missense_N344D,Missense_N344D,Missense_N344D,Missense_N344D,Missense_N357D,Missense_N359D,Missense_N396D,Missense_N359D,Missense_N357D,Missense_N344D,Missense_N396D,Missense_N430D,Missense_N359D,Missense_N541D exm79585 1 109255566 [A/G] NM_001144937 FNDC7 EXON Missense_G4E rs1333124 1 109258150 [T/C] NM_001144937 FNDC7 Silent exm79591 1 109260477 [G/C] NM_001144937 FNDC7 EXON Missense_G54A exm79601 1 109261509 [A/G] NM_001144937 FNDC7 EXON Missense_I146V exm79602 1 109261534 [A/G] NM_001144937 FNDC7 EXON Missense_S154N rs2184083 1 109261971 [A/G] NM_001144937 FNDC7 Silent exm79606 1 109265029 [T/G] NM_001144937 FNDC7 EXON Missense_R224L exm79611 1 109265134 [T/G] NM_001144937 FNDC7 EXON Missense_G259V rs2026485 1 109266523 [A/G] NM_001144937 FNDC7 Silent exm79617 1 109268435 [C/G] NM_001144937 FNDC7 EXON Missense_W307S exm79618 1 109268441 [A/G] NM_001144937 FNDC7 EXON Missense_S309N exm79621 1 109268573 [T/C] NM_001144937 FNDC7 EXON Missense_V353A exm79622 1 109268608 [A/G] NM_001144937 FNDC7 EXON Missense_I365V exm79624 1 109268615 [A/G] NM_001144937 FNDC7 EXON Missense_N367S variant.5325 1 109268626 [A/G] NM_001144937 FNDC7 EXON Missense_A371T rs10494096 1 109270402 [A/G] NM_001144937 FNDC7 Silent exm79629 1 109270459 [A/G] NM_001144937 FNDC7 EXON Missense_V381M exm79630 1 109270464 [C/G] NM_001144937 FNDC7 EXON Missense_L382F exm79639 1 109270597 [T/G] NM_001144937 FNDC7 EXON Nonsense_E427X exm79641 1 109270645 [T/C] NM_001144937 FNDC7 EXON Nonsense_R443X exm79643 1 109270657 [A/G] NM_001144937 FNDC7 EXON Missense_M447V exm79648 1 109271347 [T/C] NM_001144937 FNDC7 EXON Missense_T488M exm79651 1 109271364 [A/G] NM_001144937 FNDC7 EXON Missense_E494K exm79654 1 109271428 [T/G] NM_001144937 FNDC7 EXON Missense_G515V exm1690941 1 109271464 [A/G] NM_001144937 FNDC7 EXON Missense_Q527R exm79658 1 109271490 [A/G] NM_001144937 FNDC7 EXON Missense_S536G exm1690943 1 109273319 [A/G] NM_001144937 FNDC7 EXON Missense_T550A exm79663 1 109273351 [A/C] NM_001144937 FNDC7 EXON Missense_N560K rs4970810 1 109273610 [A/G] NM_001144937 FNDC7 Silent exm79671 1 109276017 [A/T] NM_001144937 FNDC7 EXON Missense_F668Y exm79675 1 109276068 [T/C] NM_001144937 FNDC7 EXON Missense_P685L exm79677 1 109276106 [A/G] NM_001144937 FNDC7 EXON Missense_A698T exm79679 1 109280135 [T/C] NM_001144937 FNDC7 EXON Missense_T720I exm79681 1 109284422 [A/G] NM_001144937 FNDC7 EXON Missense_E733G indel.5332 1 109299389 [D/I] NM_007269 STXBP3 rs1767017 1 109308814 [A/G] NM_007269 STXBP3 Silent exm79713 1 109315291 [T/A] NM_007269 STXBP3 EXON Missense_Y148F newrs148829120 1 109315442 [A/G] NM_007269 STXBP3 Silent variant.5334 1 109325087 [T/G] NM_007269 STXBP3 EXON Nonsense_E285X exm79729 1 109325111 [T/C] NM_007269 STXBP3 EXON Nonsense_R293X exm79731 1 109325118 [A/G] NM_007269 STXBP3 EXON Missense_R295Q exm79745 1 109339337 [A/G] NM_007269 STXBP3 EXON Missense_I449V exm79747 1 109340783 [T/C] NM_007269 STXBP3 EXON Missense_P458L exm79750 1 109342902 [A/G] NM_007269 STXBP3 EXON Missense_V504I rs1149152 1 109352915 [A/G] rs12140541 1 109356216 [T/C] newrs149826017 1 109358861 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Nonsense_Q815X,Silent exm79765 1 109358897 [C/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_L803V,Silent rs1277213 1 109359502 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 Silent,Silent indel.5339 1 109359697 [I/D] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON exm1690992 1 109359702 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_D783N,Silent exm79771 1 109359765 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_D762N,Silent rs1333130 1 109363232 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Synonymous_K728K,Silent exm79785 1 109363242 [T/A] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Nonsense_L725X,Silent exm79790 1 109365991 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 Silent,Silent indel.5343 1 109366010 [I/D] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON indel.5344 1 109366042 [D/I] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON rs10857968 1 109367944 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 Silent,Silent variant.5346 1 109369841 [T/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Nonsense_S641X,Silent exm79801 1 109369915 [T/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_N616K,Silent rs7551421 1 109369915 [T/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_N616K,Silent exm79806 1 109373214 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_P602L,Silent exm79814 1 109377070 [A/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_G582V,Silent exm2273670 1 109377140 [A/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_G559C,Silent exm79830 1 109377642 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Nonsense_R525X,Silent variant.5350 1 109385891 [T/G] NM_152763,NR_049760 AKNAD1,AKNAD1 Silent,Silent rs6704266 1 109386174 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 Silent,Silent rs7542337 1 109389021 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 Silent,Silent rs1149144 1 109391027 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 Silent,Silent variant.5351 1 109391372 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 Silent,Silent exm79849 1 109391560 [G/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_E386Q,Silent exm79850 1 109391576 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_M380I,Silent indel.5353 1 109391657 [D/I] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON exm79854 1 109391658 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_S353F,Silent exm79855 1 109391662 [G/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_L352V,Silent rs1277203 1 109392837 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 Silent,Silent exm79859 1 109394326 [G/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_G321R,Silent exm79863 1 109394370 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_T306M,Silent exm1691027 1 109394401 [T/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_P296T,Silent exm79866 1 109394412 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_S292L,Silent exm79869 1 109394524 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_H255Y,Silent exm2249491 1 109394540 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Synonymous_Y249Y,Silent exm79875 1 109394593 [A/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_S232A,Silent exm79876 1 109394609 [T/A] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_K226N,Silent exm79884 1 109394872 [G/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_A139P,Silent exm79887 1 109394964 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_S108N,Silent exm79888 1 109394976 [A/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_A104V,Silent exm2273671 1 109394985 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_E101G,Silent exm79891 1 109395031 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_E86K,Silent exm79893 1 109395105 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_S61N,Silent exm79896 1 109395153 [T/A] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_N45I,Silent indel.5354 1 109395223 [D/I] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON exm79906 1 109395258 [T/G] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_T10K,Silent exm79908 1 109395280 [T/C] NM_152763,NR_049760 AKNAD1,AKNAD1 EXON Missense_E3K,Silent rs12405585 1 109397229 [A/C] NM_152763,NR_049760 AKNAD1,AKNAD1 Silent,Silent newrs9727773 1 109439712 [T/C] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 Silent,Silent,Silent exm79917 1 109440129 [T/G] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_Q98H,Missense_Q98H,Missense_Q98H exm79920 1 109440215 [A/G] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_R127Q,Missense_R127Q,Missense_R127Q indel.5360 1 109440615 [D/I] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON 1KG_1_109440678 1 109440678 [I/D] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON exm79927 1 109441314 [A/G] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_R203H,Missense_R203H,Missense_R203H exm79930 1 109441516 [A/G] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_K233E,Missense_K233E,Missense_K233E indel.5361 1 109441560 [D/I] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON rs338489 1 109444442 [A/G] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Synonymous_K276K,Synonymous_K276K,Synonymous_K276K exm79939 1 109444447 [A/G] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_R278Q,Missense_R278Q,Missense_R278Q exm79944 1 109446750 [A/G] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_G356R,Missense_G356R,Missense_G356R variant.5363 1 109446777 [T/C] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Nonsense_R365X,Nonsense_R365X,Nonsense_R365X rs11102632 1 109453129 [T/C] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 Silent,Silent,Silent exm79949 1 109456983 [T/C] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_R406W,Missense_R406W,Missense_R406W indel.5364 1 109461306 [I/D] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON exm79956 1 109461329 [A/G] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_K453R,Missense_K453R,Missense_K453R exm79957 1 109461341 [T/C] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_T457M,Missense_T457M,Missense_T457M variant.5365 1 109461391 [T/C] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Nonsense_R474X,Nonsense_R474X,Nonsense_R474X exm79962 1 109465066 [A/G] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_E490K,Missense_E490K,Missense_E490K exm79963 1 109465070 [G/C] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_G491A,Missense_G491A,Missense_G491A exm1691052 1 109465084 [A/T] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_L496I,Missense_L496I,Missense_L496I variant.5367 1 109465090 [T/C] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Nonsense_R498X,Nonsense_R498X,Nonsense_R498X exm79969 1 109465168 [A/T] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_S524T,Missense_S524T,Missense_S524T variant.5368 1 109466620 [A/G] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 Silent,Silent,Silent exm79970 1 109466652 [T/C] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_T544M,Missense_T544M,Missense_T544M exm79972 1 109466682 [A/C] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Nonsense_S554X,Nonsense_S554X,Nonsense_S554X exm79973 1 109466691 [A/G] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_R557H,Missense_R557H,Missense_R557H exm79974 1 109466715 [A/G] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_S565N,Missense_S565N,Missense_S565N exm79977 1 109466751 [A/C] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_N577T,Missense_N577T,Missense_N577T exm79978 1 109466760 [T/C] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_S580L,Missense_S580L,Missense_S580L exm79979 1 109466803 [T/G] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 EXON Missense_D594E,Missense_D594E,Missense_D594E rs839860 1 109470126 [A/G] NM_001321039,NM_001321038,NM_013296 GPSM2,GPSM2,GPSM2 Silent,Silent,Silent exm79982 1 109472327 [T/C] NM_001321039,NM_001321038,NM_013296,NM_001048210,NM_015127,NM_001278203,NM_001278202 GPSM2,GPSM2,GPSM2,CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_S607F,Missense_S607F,Missense_S607F,Silent,Silent,Silent,Silent exm79983 1 109472378 [T/C] NM_001321039,NM_001321038,NM_013296,NM_001048210,NM_015127,NM_001278203,NM_001278202 GPSM2,GPSM2,GPSM2,CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_P624L,Missense_P624L,Missense_P624L,Silent,Silent,Silent,Silent exm1691058 1 109472416 [T/C] NM_001321039,NM_001321038,NM_013296,NM_001048210,NM_015127,NM_001278203,NM_001278202 GPSM2,GPSM2,GPSM2,CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_R637W,Missense_R637W,Missense_R637W,Silent,Silent,Silent,Silent exm2249492 1 109477313 [C/G] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Synonymous_P545P,Synonymous_P495P,Synonymous_P360P,Synonymous_P424P exm79991 1 109477313 [C/G] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Synonymous_P545P,Synonymous_P495P,Synonymous_P360P,Synonymous_P424P exm79994 1 109477348 [T/C] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_A534T,Missense_A484T,Missense_A349T,Missense_A413T exm79997 1 109477392 [G/C] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_S519C,Missense_S469C,Missense_S334C,Missense_S398C exm80001 1 109477429 [C/G] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_E507Q,Missense_E457Q,Missense_E322Q,Missense_E386Q exm80002 1 109477462 [G/C] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_P496A,Missense_P446A,Missense_P311A,Missense_P375A exm80004 1 109477468 [T/C] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_A494T,Missense_A444T,Missense_A309T,Missense_A373T exm80005 1 109477470 [A/G] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_S493L,Missense_S443L,Missense_S308L,Missense_S372L 1KG_1_109479801 1 109479801 [D/I] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON exm80015 1 109479829 [T/C] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_G418D,Missense_G368D,Missense_G233D,Missense_G297D exm80020 1 109479953 [A/G] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_R377W,Missense_R327W,Missense_R192W,Missense_R256W exm80022 1 109479959 [A/G] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_R375W,Missense_R325W,Missense_R190W,Missense_R254W exm80023 1 109479977 [T/C] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_E369K,Missense_E319K,Missense_E184K,Missense_E248K exm80024 1 109479978 [T/G] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_S368R,Missense_S318R,Missense_S183R,Missense_S247R exm80035 1 109482355 [A/G] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_I315T,Missense_I265T,Missense_I130T,Missense_I194T rs839549 1 109483767 [A/C] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 Silent,Silent,Silent,Silent variant.5373 1 109486139 [A/G] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Synonymous_S220S,Synonymous_S170S,Silent,Silent exm80053 1 109486156 [A/G] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_R215C,Missense_R165C,Silent,Silent exm80059 1 109486213 [T/C] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_V196M,Missense_V146M,Silent,Silent indel.5374 1 109486492 [D/I] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON exm80064 1 109486541 [T/G] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_I160L,Silent,Silent,Silent exm80065 1 109486553 [T/C] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_S156G,Silent,Silent,Silent exm80077 1 109492528 [T/A] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON Missense_S49T,Missense_S49T,Missense_S49T,Missense_S49T indel.5380 1 109492972 [D/I] NM_001048210,NM_015127,NM_001278203,NM_001278202 CLCC1,CLCC1,CLCC1,CLCC1 EXON rs517013 1 109500439 [A/G] NM_001048210,NM_015127 CLCC1,CLCC1 Silent,Silent rs550743 1 109505689 [T/C] NM_001048210,NM_015127 CLCC1,CLCC1 Silent,Silent rs570812 1 109515735 [A/G] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 Silent,Silent,Silent exm80103 1 109526041 [T/C] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 EXON Missense_R654H,Missense_R661H,Missense_R653H exm80118 1 109538263 [A/G] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 EXON Missense_R545C,Missense_R552C,Missense_R544C variant.5383 1 109553539 [A/G] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 EXON Nonsense_R377X,Nonsense_R384X,Missense_R377C exm80132 1 109553539 [A/G] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 EXON Nonsense_R377X,Nonsense_R384X,Missense_R377C variant.5384 1 109554187 [A/G] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 EXON Nonsense_R161X,Nonsense_R168X,Nonsense_R161X exm80149 1 109556543 [A/G] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 EXON Missense_R83C,Missense_R83C,Missense_R83C exm1691129 1 109560146 [T/C] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 EXON Missense_K79R,Missense_K79R,Missense_K79R rs11102813 1 109563656 [A/C] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 Silent,Silent,Silent rs11485106 1 109569132 [A/G] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 Silent,Silent,Silent rs10466 1 109605378 [A/G] variant.5385 1 109607288 [A/G] NM_005645 TAF13 EXON Nonsense_Q78X exm80161 1 109608833 [T/A] NM_005645 TAF13 EXON Missense_F43Y rs28634276 1 109611326 [T/G] NM_005645 TAF13 Silent indel.5387 1 109617617 [I/D] NM_005645 TAF13 EXON rs521734 1 109633256 [C/G] rs616378 1 109634341 [T/C] NR_136243,NM_001322248,NR_136242,NM_020141 TMEM167B,TMEM167B,TMEM167B,TMEM167B EXON Silent,Silent,Silent,Silent exm80176 1 109635607 [A/T] NR_136243,NM_001322248,NR_136242,NM_020141 TMEM167B,TMEM167B,TMEM167B,TMEM167B EXON Silent,Missense_S36T,Silent,Missense_S36T variant.5388 1 109648682 [A/G] NM_001122961 C1orf194 EXON Nonsense_R148X exm80195 1 109649162 [A/G] NM_001122961 C1orf194 EXON Missense_S133F var_1_109649633 1 109649634 [D/I] NM_001122961 C1orf194 EXON exm80203 1 109649681 [T/C] NM_001122961 C1orf194 EXON Missense_K76E exm1691155 1 109649719 [T/C] NM_001122961 C1orf194 EXON Missense_R63H newrs111236143 1 109650542 [A/C] NM_001122961 C1orf194 Silent exm80206 1 109650558 [T/G] NM_001122961 C1orf194 EXON Nonsense_Y49X exm80207 1 109650568 [T/C] NM_001122961 C1orf194 EXON Missense_R46Q exm80209 1 109650604 [T/C] NM_001122961 C1orf194 EXON Missense_R34Q exm80222 1 109656870 [A/T] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Silent,Missense_I22K,Missense_I22K rs10494103 1 109674281 [T/C] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent rs587727 1 109685273 [A/G] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent rs531842 1 109689314 [T/C] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent rs565751 1 109696056 [A/G] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent exm80230 1 109704525 [T/C] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Silent,Missense_H55Y,Missense_H55Y exm80236 1 109704618 [A/G] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Silent,Missense_I86V,Missense_I86V exm80238 1 109707121 [G/C] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Silent,Missense_S92C,Missense_S92C exm1691168 1 109707183 [A/G] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Missense_E11K,Missense_E113K,Missense_E113K exm80244 1 109707214 [A/G] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Missense_R21Q,Missense_R123Q,Missense_R123Q exm80249 1 109707313 [T/C] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Missense_S54L,Missense_S156L,Missense_S156L rs17014495 1 109714403 [A/C] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent exm80251 1 109714505 [A/G] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Missense_R60Q,Missense_R162Q,Missense_R162Q exm80256 1 109714635 [T/C] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Synonymous_F103F,Synonymous_F205F,Synonymous_F205F exm80256-other 1 109714635 [T/C] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Synonymous_F103F,Synonymous_F205F,Synonymous_F205F exm80265 1 109716352 [T/C] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Missense_T180M,Silent,Missense_T282M exm2268924 1 109723090 [T/C] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent rs2093933 1 109723188 [T/C] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent rs587036 1 109724188 [A/G] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent exm80275 1 109727733 [T/C] NM_001284352,NM_001267048,NM_020775 KIAA1324,KIAA1324,KIAA1324 EXON Missense_T238M,Silent,Missense_T340M exm80282 1 109730929 [A/G] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_N289S,Missense_N304S,Missense_N391S,Missense_N53S exm80285 1 109731697 [A/G] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_R308H,Missense_R323H,Missense_R410H,Missense_R72H exm80298 1 109734046 [T/G] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_V398F,Missense_V413F,Missense_V500F,Missense_V162F variant.5400 1 109734098 [A/G] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent,Silent exm80304 1 109734349 [A/G] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_G414D,Missense_G429D,Missense_G516D,Missense_G178D exm80305 1 109734351 [A/G] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_V415M,Missense_V430M,Missense_V517M,Missense_V179M exm80308 1 109734405 [T/C] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Nonsense_Q433X,Nonsense_Q448X,Nonsense_Q535X,Nonsense_Q197X exm80314 1 109735267 [A/G] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_Y471C,Missense_Y486C,Missense_Y573C,Missense_Y235C exm80321 1 109735416 [A/C] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_T521P,Missense_T536P,Missense_T623P,Missense_T285P exm80325 1 109735481 [A/G] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Synonymous_G542G,Synonymous_G557G,Synonymous_G644G,Synonymous_G306G exm2249495 1 109735481 [A/G] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Synonymous_G542G,Synonymous_G557G,Synonymous_G644G,Synonymous_G306G rs17014528 1 109737802 [A/G] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent,Silent exm80339 1 109740138 [T/C] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_R620W,Missense_R635W,Missense_R722W,Missense_R384W rs2296696 1 109740548 [T/G] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent,Silent exm80349 1 109740603 [T/G] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_V667L,Missense_V682L,Missense_V769L,Missense_V431L exm80353 1 109741244 [T/C] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_R715C,Missense_R730C,Missense_R817C,Missense_R479C exm80355 1 109741274 [T/C] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_P725S,Missense_P740S,Missense_P827S,Missense_P489S exm80366 1 109742531 [A/G] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_A751T,Missense_A766T,Missense_A853T,Missense_A515T exm80367 1 109742532 [T/C] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_A751V,Missense_A766V,Missense_A853V,Missense_A515V exm80370 1 109742595 [A/G] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_G772E,Missense_G787E,Missense_G874E,Missense_G536E variant.5405 1 109742864 [A/C] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent,Silent exm2230713 1 109743512 [T/C] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_F886S,Missense_F901S,Missense_F988S,Missense_F650S exm80384 1 109745618 [T/C] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Silent,Missense_L922P,Missense_L1009P,Missense_L671P rs4970827 1 109748547 [T/C] NM_001284352,NM_001267048,NM_020775,NM_001284353 KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Silent,Silent,Silent,Silent rs604500 1 109752204 [T/C] variant.5406 1 109772066 [T/C] NM_006513,NM_001330669 SARS,SARS EXON Nonsense_R107X,Nonsense_R107X exm80400 1 109772103 [T/C] NM_006513,NM_001330669 SARS,SARS EXON Missense_A119V,Missense_A119V exm80403 1 109772168 [T/C] NM_006513,NM_001330669 SARS,SARS EXON Missense_P141S,Missense_P141S exm80404 1 109772194 [A/G] NM_006513,NM_001330669 SARS,SARS EXON Synonymous_E149E,Synonymous_E149E exm80405 1 109773516 [T/A] NM_006513,NM_001330669 SARS,SARS EXON Missense_V155E,Missense_V155E exm1691242 1 109778650 [T/C] NM_006513,NM_001330669 SARS,SARS EXON Missense_F341L,Missense_F341L exm80422 1 109778701 [T/C] NM_006513,NM_001330669 SARS,SARS EXON Missense_P358S,Missense_P358S exm80424 1 109779073 [A/G] NM_006513,NM_001330669 SARS,SARS EXON Missense_G387E,Missense_G387E exm80435 1 109780421 [A/C] NM_006513,NM_001330669 SARS,SARS EXON Missense_K486Q,Missense_K508Q rs611905 1 109782037 [A/G] rs586254 1 109784781 [A/G] rs17035443 1 109788713 [A/G] exm80450 1 109792784 [T/C] NM_001408 CELSR2 EXON Missense_P28L exm80460 1 109792973 [A/G] NM_001408 CELSR2 EXON Missense_R91K exm80469 1 109793077 [A/C] NM_001408 CELSR2 EXON Missense_Q126K exm80470 1 109793128 [T/C] NM_001408 CELSR2 EXON Missense_L143F exm80475 1 109793273 [T/C] NM_001408 CELSR2 EXON Missense_P191L exm80484 1 109793480 [T/C] NM_001408 CELSR2 EXON Missense_T260M exm80487 1 109793499 [C/G] NM_001408 CELSR2 EXON Missense_M266I exm80490 1 109793540 [T/C] NM_001408 CELSR2 EXON Missense_T280I exm80493 1 109793564 [T/C] NM_001408 CELSR2 EXON Missense_V288A exm80503 1 109793798 [T/C] NM_001408 CELSR2 EXON Missense_T366M exm80506 1 109793851 [T/G] NM_001408 CELSR2 EXON Missense_A384S exm80507 1 109793894 [A/G] NM_001408 CELSR2 EXON Missense_Q398R exm80509 1 109793973 [A/G] NM_001408 CELSR2 EXON Synonymous_S424S exm2249497 1 109793973 [A/G] NM_001408 CELSR2 EXON Synonymous_S424S exm80523 1 109794311 [A/G] NM_001408 CELSR2 EXON Missense_N537S exm80524 1 109794316 [T/C] NM_001408 CELSR2 EXON Missense_R539C exm80530 1 109794437 [C/G] NM_001408 CELSR2 EXON Missense_G579A exm80532 1 109794455 [A/G] NM_001408 CELSR2 EXON Missense_H585R exm80536 1 109794493 [A/G] NM_001408 CELSR2 EXON Missense_V598M exm80537 1 109794497 [G/C] NM_001408 CELSR2 EXON Missense_T599S exm80540 1 109794593 [T/C] NM_001408 CELSR2 EXON Missense_T631M exm80544 1 109794709 [C/G] NM_001408 CELSR2 EXON Missense_A670P exm80547 1 109794785 [T/C] NM_001408 CELSR2 EXON Missense_T695M exm2230716 1 109794992 [T/C] NM_001408 CELSR2 EXON Missense_T764M exm80568 1 109795276 [A/G] NM_001408 CELSR2 EXON Missense_D859N exm80577 1 109795370 [A/G] NM_001408 CELSR2 EXON Missense_R890Q exm80593 1 109795894 [C/G] NM_001408 CELSR2 EXON Missense_E1065Q exm80594 1 109795898 [A/G] NM_001408 CELSR2 EXON Missense_R1066Q exm2249498 1 109801121 [T/C] NM_001408 CELSR2 EXON Synonymous_T1126T exm80613 1 109801345 [T/C] NM_001408 CELSR2 EXON Missense_P1201L exm80630 1 109801674 [A/C] NM_001408 CELSR2 EXON Missense_T1311P exm80646 1 109804152 [A/G] NM_001408 CELSR2 EXON Missense_R1400H exm80658 1 109804917 [T/G] NM_001408 CELSR2 EXON Missense_L1465F exm80663 1 109805030 [A/C] NM_001408 CELSR2 EXON Missense_S1503Y exm80675 1 109805568 [T/C] NM_001408 CELSR2 EXON Missense_I1562T exm80679 1 109805791 [A/T] NM_001408 CELSR2 EXON Missense_D1579V rs653635 1 109806313 [T/C] NM_001408 CELSR2 EXON Missense_Y1639H exm80691 1 109806313 [T/C] NM_001408 CELSR2 EXON Missense_Y1639H exm2263831 1 109806442 [A/C] NM_001408 CELSR2 Silent exm80696 1 109806773 [A/G] NM_001408 CELSR2 EXON Missense_G1692D exm1691311 1 109806964 [G/C] NM_001408 CELSR2 EXON Missense_R1756G rs6689614 1 109807099 [A/G] NM_001408 CELSR2 EXON Synonymous_P1771P exm80734 1 109807833 [A/G] NM_001408 CELSR2 EXON Missense_R1876H exm2249499 1 109807915 [T/C] NM_001408 CELSR2 EXON Synonymous_S1903S exm80743 1 109808423 [T/G] NM_001408 CELSR2 EXON Missense_L1932V exm1691322 1 109808444 [A/G] NM_001408 CELSR2 EXON Missense_E1939K exm80745 1 109808448 [A/G] NM_001408 CELSR2 EXON Missense_D1940G exm80747 1 109808480 [A/G] NM_001408 CELSR2 EXON Missense_G1951R exm80755 1 109808789 [A/G] NM_001408 CELSR2 EXON Missense_G1992R exm80759 1 109810200 [A/G] NM_001408 CELSR2 EXON Missense_R2015K exm80761 1 109810214 [G/C] NM_001408 CELSR2 EXON Missense_P2020A rs2281894 1 109810544 [A/C] NM_001408 CELSR2 EXON Synonymous_R2060R exm80772 1 109810584 [A/G] NM_001408 CELSR2 EXON Missense_V2074I exm80788 1 109811522 [A/G] NM_001408 CELSR2 EXON Missense_D2175N exm80793 1 109811571 [A/G] NM_001408 CELSR2 EXON Missense_R2191H exm80802 1 109811858 [A/G] NM_001408 CELSR2 EXON Missense_R2253H exm80803 1 109811869 [A/G] NM_001408 CELSR2 EXON Missense_G2257R exm80806 1 109812092 [A/G] NM_001408 CELSR2 EXON Missense_V2287I exm80815 1 109812321 [A/G] NM_001408 CELSR2 EXON Missense_S2329N exm1691360 1 109812674 [A/C] NM_001408 CELSR2 EXON Missense_H2409Q exm80829 1 109812712 [G/C] NM_001408 CELSR2 EXON Missense_A2422G exm80852 1 109813620 [T/C] NM_001408 CELSR2 EXON Missense_L2519F exm80857 1 109813891 [A/G] NM_001408 CELSR2 EXON Missense_R2550Q exm80884 1 109815310 [A/T] NM_001408 CELSR2 EXON Missense_D2701E exm80893 1 109815851 [A/G] NM_001408 CELSR2 EXON Missense_S2801N exm80895 1 109815862 [A/G] NM_001408 CELSR2 EXON Missense_G2805R exm80897 1 109815868 [G/C] NM_001408 CELSR2 EXON Missense_P2807A exm80898 1 109815883 [T/C] NM_001408 CELSR2 EXON Missense_R2812W exm80900 1 109815913 [A/G] NM_001408 CELSR2 EXON Missense_G2822R exm80915 1 109816196 [T/C] NM_001408 CELSR2 EXON Missense_P2883L rs7528419 1 109817192 [A/G] NM_001408 CELSR2 EXON Silent exm-rs12740374 1 109817590 [T/G] NM_001408 CELSR2 EXON Silent rs660240 1 109817838 [T/C] NM_001408 CELSR2 EXON Silent exm-rs629301 1 109818306 [T/G] NM_001408 CELSR2 EXON Silent exm-rs646776 1 109818530 [T/C] exm-rs602633 1 109821511 [T/G] exm-rs599839 1 109822166 [A/G] rs599839 1 109822166 [A/G] exm2273330 1 109822732 [A/G] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm80926 1 109822750 [A/G] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Missense_L309P,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1691392 1 109823041 [T/A] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Missense_S292C,Missense_K309N,Missense_K325N,Missense_K309N,Missense_K309N,Missense_K309N,Missense_K355N,Missense_K309N,Missense_K309N,Missense_K325N exm80928 1 109823096 [T/C] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Synonymous_A273A,Missense_R291Q,Missense_R307Q,Missense_R291Q,Missense_R291Q,Missense_R291Q,Missense_R337Q,Missense_R291Q,Missense_R291Q,Missense_R307Q exm80931 1 109823418 [T/C] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Missense_A262T,Synonymous_V279V,Synonymous_V295V,Synonymous_V279V,Synonymous_V279V,Synonymous_V279V,Synonymous_V325V,Synonymous_V279V,Synonymous_V279V,Synonymous_V295V exm80933 1 109823457 [A/T] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Nonsense_K249X,Synonymous_R266R,Synonymous_R282R,Synonymous_R266R,Synonymous_R266R,Synonymous_R266R,Synonymous_R312R,Synonymous_R266R,Synonymous_R266R,Synonymous_R282R exm80934 1 109823458 [T/C] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Synonymous_S248S,Missense_R266Q,Missense_R282Q,Missense_R266Q,Missense_R266Q,Missense_R266Q,Missense_R312Q,Missense_R266Q,Missense_R266Q,Missense_R282Q exm80936 1 109823488 [T/C] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Synonymous_R238R,Missense_G256D,Missense_G272D,Missense_G256D,Missense_G256D,Missense_G256D,Missense_G302D,Missense_G256D,Missense_G256D,Missense_G272D exm80940 1 109823537 [A/G] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Missense_A222V,Missense_P240S,Missense_P256S,Missense_P240S,Missense_P240S,Missense_P240S,Missense_P286S,Missense_P240S,Missense_P240S,Missense_P256S exm80941 1 109823551 [A/G] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Silent,Missense_S235L,Missense_S251L,Missense_S235L,Missense_S235L,Missense_S235L,Missense_S281L,Missense_S235L,Missense_S235L,Missense_S251L exm80967 1 109824326 [A/G] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Missense_T145M,Missense_T145M,Missense_T145M,Missense_T145M,Missense_T145M,Missense_T145M,Missense_T145M,Missense_T145M,Missense_T145M,Missense_T145M exm80969 1 109824353 [T/C] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Missense_R136Q,Missense_R136Q,Missense_R136Q,Missense_R136Q,Missense_R136Q,Missense_R136Q,Missense_R136Q,Missense_R136Q,Missense_R136Q,Missense_R136Q exm80974 1 109824422 [T/C] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Missense_R113Q,Missense_R113Q,Missense_R113Q,Missense_R113Q,Missense_R113Q,Missense_R113Q,Missense_R113Q,Missense_R113Q,Missense_R113Q,Missense_R113Q exm80976 1 109824440 [T/C] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Missense_R107Q,Missense_R107Q,Missense_R107Q,Missense_R107Q,Missense_R107Q,Missense_R107Q,Missense_R107Q,Missense_R107Q,Missense_R107Q,Missense_R107Q exm80977 1 109824444 [A/G] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Missense_R106C,Missense_R106C,Missense_R106C,Missense_R106C,Missense_R106C,Missense_R106C,Missense_R106C,Missense_R106C,Missense_R106C,Missense_R106C exm80980 1 109824473 [T/C] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Missense_R96Q,Missense_R96Q,Missense_R96Q,Missense_R96Q,Missense_R96Q,Missense_R96Q,Missense_R96Q,Missense_R96Q,Missense_R96Q,Missense_R96Q exm80986 1 109824503 [A/G] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Missense_A86V,Missense_A86V,Missense_A86V,Missense_A86V,Missense_A86V,Missense_A86V,Missense_A86V,Missense_A86V,Missense_A86V,Missense_A86V exm80990 1 109824576 [A/C] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Missense_V62L,Missense_V62L,Missense_V62L,Missense_V62L,Missense_V62L,Missense_V62L,Missense_V62L,Missense_V62L,Missense_V62L,Missense_V62L exm80996 1 109824680 [T/C] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Missense_R27H,Missense_R27H,Missense_R27H,Missense_R27H,Missense_R27H,Missense_R27H,Missense_R27H,Missense_R27H,Missense_R27H,Missense_R27H exm81000 1 109825198 [C/G] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm81004 1 109825360 [T/C] NM_001005290,NM_001350239,NM_001032291,NM_001350238,NM_001350237,NM_001350241,NM_001363309,NM_001350240,NM_001350242,NM_032636 PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1,PSRC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs655246 1 109832283 [A/G] rs17645143 1 109835757 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL Silent,Silent exm81012 1 109837810 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_F326S,Missense_F303S exm81015 1 109837826 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_R321C,Missense_R298C exm81016 1 109837853 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_H312Y,Missense_H289Y exm81020 1 109838857 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_R289Q,Missense_R266Q exm81028 1 109838918 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_D269N,Missense_D246N exm81031 1 109838960 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Nonsense_R255X,Nonsense_R232X exm81042 1 109839482 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_R218H,Missense_R195H exm81044 1 109839501 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_G212S,Missense_G189S exm81046 1 109839519 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_V206I,Missense_V183I exm81047 1 109839533 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_R201H,Missense_R178H exm81062 1 109840043 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL Silent,Silent exm81066 1 109840098 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_R126C,Silent exm81069 1 109840110 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_R122C,Silent exm81071 1 109840122 [A/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_A118S,Missense_A118S exm81072 1 109840125 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_R117C,Missense_R117C exm2275324 1 109840137 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Nonsense_R113X,Nonsense_R113X exm81076 1 109840169 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_R102Q,Missense_R102Q exm81082 1 109840832 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_R65W,Missense_R65W exm81083 1 109840834 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_I64T,Missense_I64T exm2230720 1 109840852 [C/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_A58G,Missense_A58G rs407102 1 109846278 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL Silent,Silent exm81091 1 109849546 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_A23V,Missense_A23V rs413582 1 109851126 [T/C] rs464218 1 109856306 [A/G] NM_002959,NM_001205228 SORT1,SORT1 EXON Silent,Silent exm81101 1 109859485 [T/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_S746N,Missense_S609N exm81105 1 109859580 [T/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Synonymous_G714G,Synonymous_G577G indel.5426 1 109865570 [D/I] NM_002959,NM_001205228 SORT1,SORT1 EXON exm81112 1 109865630 [T/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_V650M,Missense_V513M exm81122 1 109867673 [A/G] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_T561M,Missense_T424M exm81135 1 109878893 [T/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_E447G,Missense_E310G exm81136 1 109878903 [C/G] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_E444Q,Missense_E307Q exm81138 1 109878920 [A/G] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_T438M,Missense_T301M rs11102972 1 109880721 [T/C] NM_002959,NM_001205228 SORT1,SORT1 Silent,Silent exm81143 1 109883391 [T/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_V407M,Missense_V270M exm81148 1 109883405 [A/G] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_T402M,Missense_T265M exm81154 1 109884672 [A/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_D358Y,Missense_D221Y exm81161 1 109888432 [T/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_K302E,Missense_K165E exm81167 1 109897022 [A/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_Q225H,Missense_Q89H exm81172 1 109897119 [T/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_R193H,Missense_R57H exm81178 1 109910100 [T/C] NM_002959,NM_001205228 SORT1,SORT1 EXON Missense_I124V,Silent rs12037569 1 109923677 [T/G] NM_002959,NM_001205228 SORT1,SORT1 Silent,Silent rs10858092 1 109943893 [T/C] NM_001199772,NM_002790,NM_001199774,NM_001199773 PSMA5,PSMA5,PSMA5,PSMA5 EXON Silent,Silent,Silent,Silent exm81204 1 109955749 [T/C] NM_001199772,NM_002790,NM_001199774,NM_001199773 PSMA5,PSMA5,PSMA5,PSMA5 EXON Missense_M20V,Missense_M78V,Missense_M20V,Missense_M20V exm81206 1 109957898 [T/C] NM_001199772,NM_002790,NM_001199774,NM_001199773 PSMA5,PSMA5,PSMA5,PSMA5 EXON Missense_S4G,Missense_S62G,Missense_S4G,Missense_S4G exm-rs1933182 1 109999838 [A/C] exm81229 1 110018267 [A/G] NM_001040709 SYPL2 EXON Missense_R65H exm81231 1 110019415 [A/T] NM_001040709 SYPL2 EXON Missense_Y91F exm81233 1 110019439 [A/G] NM_001040709 SYPL2 EXON Missense_E99G exm81234 1 110019457 [T/C] NM_001040709 SYPL2 EXON Missense_M105T exm81239 1 110019537 [A/G] NM_001040709 SYPL2 EXON Missense_A132T exm81245 1 110019585 [T/C] NM_001040709 SYPL2 EXON Missense_R148C exm81254 1 110020621 [A/G] NM_001040709 SYPL2 EXON Missense_N213S exm81255 1 110022016 [A/G] NM_001040709 SYPL2 EXON Missense_N222S rs1278839 1 110025578 [A/G] exm81264 1 110026628 [T/G] NM_001350175,NM_001350177,NM_001350174,NM_153340 ATXN7L2,ATXN7L2,ATXN7L2,ATXN7L2 EXON Missense_V18G,Silent,Missense_V18G,Missense_V18G exm81274 1 110029129 [T/C] NM_001350175,NM_001350177,NM_001350174,NM_153340 ATXN7L2,ATXN7L2,ATXN7L2,ATXN7L2 EXON Synonymous_D65D,Synonymous_D7D,Synonymous_D65D,Synonymous_D65D exm81280 1 110029664 [T/C] NM_001350175,NM_001350177,NM_001350174,NM_153340 ATXN7L2,ATXN7L2,ATXN7L2,ATXN7L2 EXON Missense_R112W,Missense_R54W,Missense_R112W,Missense_R112W exm81284 1 110029764 [T/C] NM_001350175,NM_001350177,NM_001350174,NM_153340 ATXN7L2,ATXN7L2,ATXN7L2,ATXN7L2 EXON Missense_S145F,Missense_S87F,Missense_S145F,Missense_S145F exm81288 1 110030311 [A/C] NM_001350175,NM_001350177,NM_001350174,NM_153340 ATXN7L2,ATXN7L2,ATXN7L2,ATXN7L2 EXON Missense_R227S,Missense_R169S,Missense_R227S,Missense_R195S exm-rs12049330 1 110031188 [T/G] NM_001350175,NM_001350177,NM_001350174,NM_153340 ATXN7L2,ATXN7L2,ATXN7L2,ATXN7L2 Silent,Silent,Silent,Silent exm81313 1 110032557 [A/G] NM_001350175,NM_001350177,NM_001350174,NM_153340 ATXN7L2,ATXN7L2,ATXN7L2,ATXN7L2 EXON Missense_R380Q,Missense_R322Q,Missense_R380Q,Missense_R348Q exm2249504 1 110032947 [A/C] NM_001350175,NM_001350177,NM_001350174,NM_153340 ATXN7L2,ATXN7L2,ATXN7L2,ATXN7L2 EXON Synonymous_R463R,Synonymous_R405R,Synonymous_R463R,Synonymous_R431R exm81319 1 110032976 [A/C] NM_001350175,NM_001350177,NM_001350174,NM_153340 ATXN7L2,ATXN7L2,ATXN7L2,ATXN7L2 EXON Missense_S472R,Missense_S414R,Missense_S472R,Missense_S440R exm1691576 1 110033585 [A/G] NM_001350175,NM_001350177,NM_001350174,NM_153340 ATXN7L2,ATXN7L2,ATXN7L2,ATXN7L2 EXON Missense_N499S,Missense_N441S,Missense_N499S,Missense_N467S exm81324 1 110033632 [T/C] NM_001350175,NM_001350177,NM_001350174,NM_153340 ATXN7L2,ATXN7L2,ATXN7L2,ATXN7L2 EXON Missense_P515S,Missense_P457S,Missense_P515S,Missense_P483S exm2249505 1 110033736 [A/G] NM_001350175,NM_001350177,NM_001350174,NM_153340 ATXN7L2,ATXN7L2,ATXN7L2,ATXN7L2 EXON Synonymous_A549A,Synonymous_A491A,Synonymous_A549A,Synonymous_A517A exm1691578 1 110033737 [G/C] NM_001350175,NM_001350177,NM_001350174,NM_153340 ATXN7L2,ATXN7L2,ATXN7L2,ATXN7L2 EXON Missense_A550P,Missense_A492P,Missense_A550P,Missense_A518P exm81348 1 110034074 [A/G] NM_001350175,NM_001350177,NM_001350174,NM_153340 ATXN7L2,ATXN7L2,ATXN7L2,ATXN7L2 EXON Missense_R662H,Missense_R604H,Missense_R662H,Missense_R630H exm81352 1 110034107 [A/G] NM_001350175,NM_001350177,NM_001350174,NM_153340 ATXN7L2,ATXN7L2,ATXN7L2,ATXN7L2 EXON Missense_K673R,Missense_K615R,Missense_K673R,Missense_K641R exm81371 1 110036885 [A/G] NM_001134402,NM_001134400,NM_001134404,NM_001134403,NM_182580 CYB561D1,CYB561D1,CYB561D1,CYB561D1,CYB561D1 EXON Silent,Missense_T42A,Missense_T42A,Missense_T42A,Missense_T42A exm81381 1 110038311 [A/G] NM_001134402,NM_001134400,NM_001134404,NM_001134403,NM_182580 CYB561D1,CYB561D1,CYB561D1,CYB561D1,CYB561D1 EXON Silent,Silent,Missense_S101G,Silent,Silent variant.5440 1 110038447 [T/C] NM_001134402,NM_001134400,NM_001134404,NM_001134403,NM_182580 CYB561D1,CYB561D1,CYB561D1,CYB561D1,CYB561D1 EXON Nonsense_R29X,Nonsense_R108X,Silent,Synonymous_P120P,Nonsense_R86X exm81386 1 110038456 [T/C] NM_001134402,NM_001134400,NM_001134404,NM_001134403,NM_182580 CYB561D1,CYB561D1,CYB561D1,CYB561D1,CYB561D1 EXON Missense_R32W,Missense_R111W,Silent,Synonymous_H123H,Missense_R89W exm81387 1 110038462 [T/C] NM_001134402,NM_001134400,NM_001134404,NM_001134403,NM_182580 CYB561D1,CYB561D1,CYB561D1,CYB561D1,CYB561D1 EXON Missense_R34W,Missense_R113W,Silent,Synonymous_S125S,Missense_R91W exm81394 1 110038664 [A/G] NM_001134402,NM_001134400,NM_001134404,NM_001134403,NM_182580 CYB561D1,CYB561D1,CYB561D1,CYB561D1,CYB561D1 EXON Missense_R101K,Missense_R180K,Silent,Silent,Missense_R158K exm81401 1 110038772 [A/T] NM_001134402,NM_001134400,NM_001134404,NM_001134403,NM_182580 CYB561D1,CYB561D1,CYB561D1,CYB561D1,CYB561D1 EXON Missense_I137N,Missense_I216N,Silent,Silent,Missense_I194N exm1691597 1 110038787 [C/G] NM_001134402,NM_001134400,NM_001134404,NM_001134403,NM_182580 CYB561D1,CYB561D1,CYB561D1,CYB561D1,CYB561D1 EXON Missense_W142S,Missense_W221S,Silent,Silent,Missense_W199S exm81406 1 110038817 [T/C] NM_001134402,NM_001134400,NM_001134404,NM_001134403,NM_182580 CYB561D1,CYB561D1,CYB561D1,CYB561D1,CYB561D1 EXON Missense_P152L,Missense_P231L,Silent,Silent,Missense_P209L rs3738772 1 110048436 [A/C] NM_020703 AMIGO1 EXON Silent exm81413 1 110050153 [T/A] NM_020703 AMIGO1 EXON Missense_N461I exm81414 1 110050180 [T/C] NM_020703 AMIGO1 EXON Missense_G452D exm81417 1 110050250 [A/C] NM_020703 AMIGO1 EXON Missense_A429S exm81421 1 110050334 [A/G] NM_020703 AMIGO1 EXON Missense_R401W exm81423 1 110050504 [A/G] NM_020703 AMIGO1 EXON Missense_M344T exm81446 1 110051449 [T/C] NM_020703 AMIGO1 EXON Missense_R29Q exm81447 1 110051462 [T/C] NM_020703 AMIGO1 EXON Missense_A25T rs6537803 1 110063540 [A/G] rs529773 1 110065906 [A/G] rs532623 1 110070554 [T/C] exm2265035 1 110078434 [A/G] exm-rs7550711 1 110082886 [T/C] NM_031936 GPR61 Silent rs12023963 1 110084827 [T/C] NM_031936 GPR61 Silent exm81457 1 110085837 [A/G] NM_031936 GPR61 EXON Missense_A65T exm81467 1 110086074 [A/G] NM_031936 GPR61 EXON Missense_V144I exm81478 1 110086371 [A/G] NM_031936 GPR61 EXON Missense_G243R exm81500 1 110086689 [T/C] NM_031936 GPR61 EXON Missense_R349W exm81524 1 110116624 [T/C] NM_006496 GNAI3 EXON Missense_R90W exm81525 1 110116625 [A/G] NM_006496 GNAI3 EXON Missense_R90Q rs6537837 1 110119732 [T/C] NM_006496 GNAI3 Silent exm-rs6537837 1 110119732 [T/C] NM_006496 GNAI3 Silent exm81531 1 110121922 [A/G] NM_006496 GNAI3 EXON Missense_G134S exm81533 1 110125106 [T/C] NM_006496 GNAI3 EXON Missense_T170I variant.5446 1 110125187 [A/G] NM_006496 GNAI3 EXON Missense_K197R exm81539 1 110129420 [A/G] NM_006496 GNAI3 EXON Missense_I264V rs17024043 1 110130405 [A/G] NM_006496 GNAI3 Silent rs541320 1 110132098 [A/G] NM_006496 GNAI3 Silent exm2249509 1 110134777 [A/G] NM_006496 GNAI3 EXON Synonymous_T329T variant.5448 1 110134877 [A/G] NM_006496 GNAI3 EXON Silent rs2301230 1 110136458 [A/G] NM_006496 GNAI3 EXON Silent variant.5449 1 110146104 [A/G] NM_005272 GNAT2 EXON Nonsense_R313X exm81559 1 110146110 [T/C] NM_005272 GNAT2 EXON Missense_N311D exm81560 1 110146113 [A/G] NM_005272 GNAT2 EXON Missense_L310F rs1799875 1 110148974 [T/C] NM_005272 GNAT2 EXON Synonymous_T182T exm81581 1 110151287 [T/C] NM_005272 GNAT2 EXON Missense_A143T exm81585 1 110151365 [T/C] NM_005272 GNAT2 EXON Missense_G117R exm81589 1 110151395 [T/G] NM_005272 GNAT2 EXON Missense_L107I exm81595 1 110152708 [T/C] NM_005272 GNAT2 EXON Missense_R86Q exm81603 1 110155479 [A/G] NM_005272 GNAT2 EXON Missense_A5V rs4970768 1 110156212 [A/G] exm81619 1 110163879 [A/G] NM_001257360,NM_139156,NM_004037,NM_001308170 AMPD2,AMPD2,AMPD2,AMPD2 EXON Missense_A82T,Silent,Missense_A82T,Synonymous_L50L rs12046107 1 110164657 [A/G] NM_001257360,NM_139156,NM_004037,NM_001308170 AMPD2,AMPD2,AMPD2,AMPD2 Silent,Silent,Silent,Silent exm1691817 1 110169371 [T/G] NM_001257360,NM_139156,NM_004037,NM_001308170,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 EXON Missense_D239E,Missense_D158E,Missense_D239E,Missense_D164E,Missense_D121E,Missense_D120E exm81658 1 110169818 [T/C] NM_001257360,NM_139156,NM_004037,NM_001308170,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 EXON Missense_A301V,Missense_A220V,Missense_A301V,Missense_A226V,Missense_A183V,Missense_A182V exm2249512 1 110169834 [A/G] NM_001257360,NM_139156,NM_004037,NM_001308170,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 EXON Synonymous_P306P,Synonymous_P225P,Synonymous_P306P,Synonymous_P231P,Synonymous_P188P,Synonymous_P187P exm81661 1 110169868 [A/G] NM_001257360,NM_139156,NM_004037,NM_001308170,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 EXON Missense_D318N,Missense_D237N,Missense_D318N,Missense_D243N,Missense_D200N,Missense_D199N exm81663 1 110169896 [A/G] NM_001257360,NM_139156,NM_004037,NM_001308170,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 EXON Missense_R327Q,Missense_R246Q,Missense_R327Q,Missense_R252Q,Missense_R209Q,Missense_R208Q rs524998 1 110169957 [A/G] NM_001257360,NM_139156,NM_004037,NM_001308170,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 Silent,Silent,Silent,Silent,Silent,Silent exm81730 1 110172440 [C/G] NM_001257360,NM_139156,NM_004037,NM_001308170,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 EXON Missense_V683L,Missense_V602L,Missense_V683L,Missense_V608L,Missense_V565L,Missense_V564L exm81739 1 110172995 [T/C] NM_001257360,NM_139156,NM_004037,NM_001308170,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 EXON Synonymous_S762S,Synonymous_S681S,Synonymous_S762S,Synonymous_S687S,Synonymous_S644S,Synonymous_S643S exm2249514 1 110172995 [T/C] NM_001257360,NM_139156,NM_004037,NM_001308170,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 EXON Synonymous_S762S,Synonymous_S681S,Synonymous_S762S,Synonymous_S687S,Synonymous_S644S,Synonymous_S643S rs568686 1 110173775 [T/G] NM_001257360,NM_139156,NM_004037,NM_001308170,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 EXON Silent,Silent,Silent,Silent,Silent,Silent rs681991 1 110195228 [A/G] rs668413 1 110195944 [A/C] kgp3155172 1 110198727 [G/C] NM_000850,NR_024538,NM_147148 GSTM4,GSTM4,GSTM4 EXON Silent,Silent,Silent kgp25277353 1 110198788 [T/C] NM_000850,NR_024538,NM_147148 GSTM4,GSTM4,GSTM4 EXON Silent,Silent,Silent rs3191485 1 110199022 [T/C] NM_000850,NR_024538,NM_147148 GSTM4,GSTM4,GSTM4 EXON Missense_T4I,Silent,Missense_T4I exm81780 1 110200445 [G/C] NM_000850,NR_024538,NM_147148 GSTM4,GSTM4,GSTM4 EXON Missense_A104G,Silent,Missense_A104G rs3211196 1 110201481 [A/C] NM_000850,NR_024538,NM_147148 GSTM4,GSTM4,GSTM4 EXON Missense_Q136K,Silent,Missense_Q136K exm81787 1 110201643 [A/G] NM_000850,NR_024538,NM_147148 GSTM4,GSTM4,GSTM4 EXON Missense_A160T,Silent,Missense_A160T kgp7859532 1 110201654 [T/C] NM_000850,NR_024538,NM_147148 GSTM4,GSTM4,GSTM4 EXON Synonymous_V163V,Silent,Synonymous_V163V kgp15428935 1 110201667 [T/C] NM_000850,NR_024538,NM_147148 GSTM4,GSTM4,GSTM4 EXON Missense_R168C,Silent,Missense_R168C rs562996 1 110201809 [T/G] NM_000850,NR_024538,NM_147148 GSTM4,GSTM4,GSTM4 Silent,Silent,Silent rs12090060 1 110203254 [A/G] NM_000850,NR_024538,NM_147148 GSTM4,GSTM4,GSTM4 Silent,Silent,Silent exm81798 1 110203823 [T/C] NM_000850,NR_024538,NM_147148 GSTM4,GSTM4,GSTM4 EXON Missense_R202C,Silent,Silent exm81803 1 110203853 [A/G] NM_000850,NR_024538,NM_147148 GSTM4,GSTM4,GSTM4 EXON Missense_V212M,Silent,Silent kgp15844410 1 110203911 [T/C] NM_000850,NR_024538,NM_147148 GSTM4,GSTM4,GSTM4 EXON Silent,Silent,Silent kgp8762234 1 110208089 [T/A] NM_147148 GSTM4 EXON Silent rs625456 1 110210671 [T/G] NM_001142368,NM_000848 GSTM2,GSTM2 EXON Silent,Silent exm1692076 1 110210740 [A/G] NM_001142368,NM_000848 GSTM2,GSTM2 EXON Missense_M1I,Missense_M1I variant.5472 1 110211110 [A/G] NM_001142368,NM_000848 GSTM2,GSTM2 EXON Missense_T34A,Missense_T34A var_1_110211611 1 110211612 [D/I] NM_001142368,NM_000848 GSTM2,GSTM2 exm81836 1 110212120 [A/G] NM_001142368,NM_000848 GSTM2,GSTM2 EXON Missense_R96H,Missense_R96H indel.5474 1 110212143 [I/D] NM_001142368,NM_000848 GSTM2,GSTM2 EXON variant.5475 1 110212194 [T/G] NM_001142368,NM_000848 GSTM2,GSTM2 Silent,Silent exm81844 1 110214116 [A/G] NM_001142368,NM_000848 GSTM2,GSTM2 EXON Missense_A160T,Missense_A160T exm81845 1 110214120 [A/G] NM_001142368,NM_000848 GSTM2,GSTM2 EXON Missense_Y161C,Missense_Y161C rs655315 1 110215178 [A/G] NM_001142368,NM_000848 GSTM2,GSTM2 Silent,Silent rs12732862 1 110219331 [A/G] NM_001142368 GSTM2 Silent rs12068997 1 110230836 [T/C] NM_000561,NM_146421 GSTM1,GSTM1 EXON Synonymous_S27S,Synonymous_S27S exm2230743 1 110233104 [T/A] NM_000561,NM_146421 GSTM1,GSTM1 EXON Missense_D162V,Silent exm81898 1 110233115 [A/C] NM_000561,NM_146421 GSTM1,GSTM1 EXON Missense_L166I,Silent exm-rs1056806 1 110233147 [T/C] NM_000561,NM_146421 GSTM1,GSTM1 EXON Synonymous_D176D,Silent rs3754446 1 110253241 [A/C] var_1_110255320 1 110255320 [T/C] NM_000851 GSTM5 Silent exm81964 1 110256344 [C/G] NM_000851 GSTM5 EXON Missense_N107K exm81966 1 110256364 [A/T] NM_000851 GSTM5 EXON Missense_L114Q kgp25041089 1 110257641 [T/C] NM_000851 GSTM5 EXON Missense_R145W exm81979 1 110257814 [C/G] NM_000851 GSTM5 EXON Missense_K173N kgp10114047 1 110257854 [T/C] NM_000851 GSTM5 EXON Missense_R187C exm81994 1 110260004 [T/C] NM_000851 GSTM5 EXON Nonsense_R205X exm81997 1 110260040 [A/G] NM_000851 GSTM5 EXON Missense_S217G kgp15708162 1 110260276 [A/G] NM_000851 GSTM5 EXON Silent kgp15419817 1 110260297 [T/C] NM_000851 GSTM5 EXON Silent kgp24902563 1 110260658 [T/C] NM_000851 GSTM5 EXON Silent rs11807 1 110260742 [T/C] NM_000851 GSTM5 EXON Silent kgp15817546 1 110260830 [T/C] NM_000851 GSTM5 EXON Silent rs4970774 1 110268828 [A/C] rs1854962 1 110269286 [A/G] rs12059276 1 110273541 [T/C] kgp15192508 1 110276772 [C/G] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Silent kgp5736156 1 110276861 [T/C] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Silent kgp15450425 1 110276991 [T/C] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Silent rs12087868 1 110277262 [A/G] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Silent kgp5336935 1 110277403 [T/C] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Silent rs12058634 1 110278054 [T/C] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Silent rs12040968 1 110278167 [T/C] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Silent kgp24961028 1 110278189 [G/C] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Silent kgp15859527 1 110278213 [C/G] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Silent kgp10666312 1 110278972 [T/C] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Silent kgp15371388 1 110279061 [T/C] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Silent rs2234696 1 110279602 [T/G] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Silent exm81999 1 110279701 [T/C] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Missense_V224I variant.5483 1 110280074 [A/G] NR_024537,NM_000849 GSTM3,GSTM3 Silent,Silent newrs149969876 1 110280079 [T/C] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Synonymous_E193E rs1803687 1 110280362 [G/C] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Missense_K128N variant.5486 1 110280745 [A/G] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Nonsense_Q114X exm1692455 1 110280751 [A/G] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Missense_R112C exm82022 1 110280921 [T/C] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Missense_R86H exm82029 1 110282482 [T/C] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Missense_E33K exm82031 1 110282511 [A/G] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Missense_L23P exm82037 1 110282891 [T/G] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Missense_M7L exm1692490 1 110282909 [T/C] NR_024537,NM_000849 GSTM3,GSTM3 EXON Silent,Missense_M1V rs4970777 1 110283785 [T/C] exm82048 1 110293310 [T/C] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_R518Q,Missense_R551Q,Missense_R581Q,Missense_R582Q exm82057 1 110293386 [T/C] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_G493R,Missense_G526R,Missense_G556R,Missense_G557R exm82058 1 110293388 [A/G] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_T492M,Missense_T525M,Missense_T555M,Missense_T556M exm82063 1 110293943 [T/C] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_E469K,Missense_E502K,Missense_E532K,Missense_E533K exm82070 1 110294356 [A/G] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_R432W,Missense_R465W,Missense_R495W,Missense_R496W exm82072 1 110294385 [T/C] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_R422Q,Missense_R455Q,Missense_R485Q,Missense_R486Q rs7537620 1 110298635 [T/C] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 Silent,Silent,Silent,Silent exm82095 1 110299677 [T/G] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_N327K,Missense_N360K,Missense_N360K,Missense_N361K exm82097 1 110299691 [A/G] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_P323S,Missense_P356S,Missense_P356S,Missense_P357S exm82107 1 110300441 [A/G] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_H260Y,Missense_H293Y,Missense_H293Y,Missense_H294Y variant.5495 1 110300566 [T/C] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_G245S,Missense_G278S,Missense_G278S,Missense_G279S variant.5496 1 110300572 [A/G] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Nonsense_Q243X,Nonsense_Q276X,Nonsense_Q276X,Nonsense_Q277X indel.5497 1 110300579 [I/D] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON indel.5498 1 110300600 [D/I] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON indel.5499 1 110300634 [I/D] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON exm82117 1 110301012 [T/C] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_A182T,Missense_A215T,Missense_A215T,Missense_A216T exm82118 1 110301023 [T/C] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_R178H,Missense_R211H,Missense_R211H,Missense_R212H exm1692589 1 110301254 [T/C] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_D132N,Missense_D165N,Missense_D165N,Missense_D166N exm82125 1 110301260 [T/C] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_G130S,Missense_G163S,Missense_G163S,Missense_G164S exm1692598 1 110301709 [T/C] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_A112T,Missense_A146T,Missense_A146T,Missense_A146T exm82130 1 110301919 [T/C] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_V82M,Missense_V116M,Missense_V116M,Missense_V116M exm82132 1 110301983 [G/C] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_D60E,Missense_D94E,Missense_D94E,Missense_D94E exm82133 1 110301991 [A/G] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_R58C,Missense_R92C,Missense_R92C,Missense_R92C exm82145 1 110302450 [T/C] NM_001319952,NM_024526,NM_133181,NM_139053 EPS8L3,EPS8L3,EPS8L3,EPS8L3 EXON Missense_M1I,Missense_M35I,Missense_M35I,Missense_M35I rs943640 1 110307440 [A/G] rs6537876 1 110323150 [T/C] rs7524737 1 110332816 [T/G] exm2264888 1 110346355 [A/G] rs12039964 1 110348040 [T/C] exm-rs10494112 1 110352477 [A/G] rs480419 1 110359882 [A/G] rs2938616 1 110364275 [T/G] exm-rs484959 1 110366083 [T/C] rs523213 1 110372198 [A/G] rs525566 1 110375695 [A/G] rs12566133 1 110392219 [T/G] rs1021880 1 110424529 [A/G] rs453577 1 110426778 [A/G] rs333966 1 110441792 [A/G] rs1999713 1 110450177 [T/C] exm82166 1 110460068 [T/A] NM_172210,NM_172211,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Missense_Y127N,Missense_Y127N,Missense_Y127N,Missense_Y127N rs333968 1 110460520 [T/C] NM_172210,NM_172211,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 Silent,Silent,Silent,Silent exm82172 1 110465836 [G/C] NM_172210,NM_172211,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Missense_P198R,Silent,Missense_P198R,Missense_P198R exm82173 1 110465848 [T/C] NM_172210,NM_172211,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Missense_P202L,Silent,Missense_P202L,Missense_P202L exm82175 1 110465874 [T/C] NM_172210,NM_172211,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Missense_L211F,Silent,Missense_L211F,Missense_L211F exm82177 1 110465887 [T/C] NM_172210,NM_172211,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Missense_M215T,Silent,Missense_M215T,Missense_M215T exm82185 1 110466087 [A/C] NM_172210,NM_172211,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Missense_P282T,Silent,Missense_P282T,Missense_P282T exm82197 1 110466265 [A/G] NM_172210,NM_172211,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Missense_S341N,Silent,Missense_S341N,Missense_S341N exm82202 1 110466339 [A/G] NM_172210,NM_172211,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Silent,Silent,Missense_A366T,Missense_A366T exm82211 1 110466466 [T/C] NM_172210,NM_172211,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Silent,Silent,Missense_L408P,Missense_L408P exm82214 1 110466535 [T/C] NM_172210,NM_172211,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Silent,Silent,Missense_S431L,Missense_S431L exm82215 1 110466543 [G/C] NM_172210,NM_172211,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Silent,Silent,Missense_V434L,Missense_V434L rs2229165 1 110466555 [A/G] NM_172210,NM_172211,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Silent,Silent,Missense_G438R,Missense_G438R exm82217 1 110466555 [A/G] NM_172210,NM_172211,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Silent,Silent,Missense_G438R,Missense_G438R exm82225 1 110466709 [T/C] NM_172210,NM_172211,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Missense_F373S,Missense_F191S,Missense_F489S,Missense_F489S exm82239 1 110467420 [T/C] NM_172210,NM_172211,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Missense_A415V,Missense_A233V,Missense_A531V,Missense_A531V rs756325 1 110478064 [T/C] rs6537885 1 110478803 [T/C] rs7555325 1 110478911 [A/G] rs7417586 1 110480564 [A/G] rs7540934 1 110483773 [A/G] rs17025216 1 110486839 [T/C] rs7365459 1 110492809 [T/G] rs390923 1 110499669 [A/G] rs11579145 1 110501597 [A/G] rs11102043 1 110517396 [T/C] rs12066280 1 110517701 [A/G] exm82264 1 110555081 [A/G] NM_001242673,NM_006621,NM_001242674,NM_001242675,NM_001242676 AHCYL1,AHCYL1,AHCYL1,AHCYL1,AHCYL1 EXON Synonymous_T111T,Synonymous_T158T,Synonymous_T111T,Synonymous_T111T,Synonymous_T111T exm82275 1 110559005 [A/G] NM_001242673,NM_006621,NM_001242674,NM_001242675,NM_001242676 AHCYL1,AHCYL1,AHCYL1,AHCYL1,AHCYL1 EXON Synonymous_P227P,Synonymous_P274P,Synonymous_P227P,Synonymous_P227P,Synonymous_P227P exm82282 1 110561024 [T/C] NM_001242673,NM_006621,NM_001242674,NM_001242675,NM_001242676 AHCYL1,AHCYL1,AHCYL1,AHCYL1,AHCYL1 EXON Synonymous_L338L,Synonymous_L385L,Synonymous_L338L,Synonymous_L338L,Synonymous_L338L exm1693090 1 110581371 [A/G] NM_001270768,NR_073071,NM_033088 STRIP1,STRIP1,STRIP1 EXON Missense_R11Q,Silent,Missense_R106Q exm1693094 1 110582038 [T/C] NM_001270768,NR_073071,NM_033088 STRIP1,STRIP1,STRIP1 EXON Missense_S66L,Silent,Missense_S161L exm82335 1 110582104 [A/G] NM_001270768,NR_073071,NM_033088 STRIP1,STRIP1,STRIP1 EXON Missense_N88S,Silent,Missense_N183S exm82341 1 110584374 [A/G] NM_001270768,NR_073071,NM_033088 STRIP1,STRIP1,STRIP1 EXON Missense_N164S,Silent,Missense_N259S exm82357 1 110586288 [A/G] NM_001270768,NR_073071,NM_033088 STRIP1,STRIP1,STRIP1 EXON Missense_A271T,Silent,Missense_A366T exm1693173 1 110593581 [T/G] NM_001270768,NR_073071,NM_033088 STRIP1,STRIP1,STRIP1 EXON Missense_A559S,Silent,Missense_A654S exm82405 1 110596358 [A/G] NM_001270768,NR_073071,NM_033088 STRIP1,STRIP1,STRIP1 EXON Missense_A685T,Silent,Missense_A780T exm82411 1 110596504 [C/G] NM_001270768,NR_073071,NM_033088 STRIP1,STRIP1,STRIP1 EXON Missense_K733N,Silent,Missense_K828N rs17025371 1 110597151 [T/C] NM_001270768,NR_073071,NM_033088 STRIP1,STRIP1,STRIP1 EXON Silent,Silent,Silent exm82426 1 110603639 [G/C] NM_006492 ALX3 EXON Missense_P250A exm82430 1 110604076 [T/C] NM_006492 ALX3 EXON Missense_R235H exm82436 1 110604142 [T/C] NM_006492 ALX3 EXON Missense_R213H rs2360635 1 110604747 [A/G] NM_006492 ALX3 Silent newrs121908168 1 110607256 [A/G] NM_006492 ALX3 EXON Missense_R183W rs3754443 1 110609288 [T/G] NM_006492 ALX3 Silent rs10127659 1 110619665 [A/C] rs756134 1 110640235 [T/C] NR_126382 LINC01397 Silent rs17025426 1 110645327 [T/C] NR_126382 LINC01397 Silent rs673792 1 110646283 [A/G] NR_126382 LINC01397 Silent rs4839136 1 110650174 [A/G] NR_126382 LINC01397 Silent exm82459 1 110655189 [G/C] NM_203412 UBL4B EXON Missense_Q11H exm82462 1 110655230 [T/C] NM_203412 UBL4B EXON Missense_T25M 1KG_1_110655430 1 110655430 [I/D] NM_203412 UBL4B EXON exm82474 1 110655518 [A/G] NM_203412 UBL4B EXON Missense_R121H exm82478 1 110655572 [G/C] NM_203412 UBL4B EXON Missense_A139G exm82481 1 110655587 [A/T] NM_203412 UBL4B EXON Missense_V144E exm82486 1 110655616 [A/G] NM_203412 UBL4B EXON Missense_A154T rs2168144 1 110657532 [A/G] rs17669930 1 110657949 [T/C] rs924181 1 110680114 [A/G] rs10494113 1 110684287 [T/C] rs6679244 1 110686937 [T/C] exm-rs877068 1 110698045 [T/C] NM_001010898 SLC6A17 Silent exm82504 1 110709720 [A/G] NM_001010898 SLC6A17 EXON Missense_A57T rs1010891 1 110712154 [A/G] NM_001010898 SLC6A17 Silent rs7554444 1 110713909 [T/C] NM_001010898 SLC6A17 Silent exm82510 1 110714819 [A/G] NM_001010898 SLC6A17 EXON Missense_I142V exm1693329 1 110717526 [A/G] NM_001010898 SLC6A17 EXON Missense_V233M rs4839223 1 110728459 [A/G] NM_001010898 SLC6A17 Silent rs621514 1 110733794 [A/G] NM_001010898 SLC6A17 Silent exm82529 1 110734834 [A/G] NM_001010898 SLC6A17 EXON Missense_E369K exm82532 1 110735195 [A/G] NM_001010898 SLC6A17 EXON Missense_V392I exm82539 1 110737204 [A/G] NM_001010898 SLC6A17 EXON Missense_V435M rs2784140 1 110738296 [A/G] NM_001010898 SLC6A17 EXON Synonymous_S527S exm82551 1 110738300 [A/C] NM_001010898 SLC6A17 EXON Missense_T529P exm82556 1 110740129 [A/G] NM_001010898 SLC6A17 EXON Missense_V575M exm82557 1 110740146 [A/G] NM_001010898 SLC6A17 EXON Missense_M580I exm82562 1 110740169 [T/G] NM_001010898 SLC6A17 EXON Missense_I588S exm82563 1 110740187 [T/C] NM_001010898 SLC6A17 EXON Missense_T594M exm82570 1 110740791 [A/G] NM_001010898 SLC6A17 EXON Missense_V637I exm82575 1 110740918 [A/G] NM_001010898 SLC6A17 EXON Missense_K679R exm82577 1 110740935 [T/C] NM_001010898 SLC6A17 EXON Missense_P685S exm82583 1 110741016 [T/C] NM_001010898 SLC6A17 EXON Missense_R712C rs2603594 1 110759455 [A/G] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 Silent,Silent,Silent rs615204 1 110759796 [T/C] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 Silent,Silent,Silent rs628594 1 110760444 [A/G] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 Silent,Silent,Silent exm82614 1 110765691 [T/C] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 EXON Missense_R262C,Silent,Missense_R262C exm82619 1 110765712 [A/G] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 EXON Missense_V269M,Silent,Missense_V269M exm82621 1 110765741 [T/G] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 EXON Missense_E278D,Silent,Missense_E278D exm82623 1 110765766 [A/G] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 EXON Missense_V287I,Silent,Missense_V287I exm82626 1 110765835 [A/G] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 EXON Missense_V310I,Silent,Missense_V310I exm82628 1 110765925 [T/C] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 EXON Missense_R340C,Silent,Missense_R340C exm82649 1 110766454 [A/G] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 EXON Missense_R516Q,Silent,Missense_R516Q exm82650 1 110766466 [A/G] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 EXON Missense_C520Y,Silent,Missense_C520Y exm82652 1 110766477 [A/G] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 EXON Missense_S524G,Silent,Missense_S524G exm82655 1 110766490 [A/G] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 EXON Missense_R528Q,Silent,Missense_R528Q exm82658 1 110768602 [A/G] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 EXON Missense_K541E,Silent,Missense_K541E exm82661 1 110768681 [T/C] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 EXON Missense_T567I,Silent,Missense_T567I exm82664 1 110768695 [T/C] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 EXON Missense_R572W,Silent,Missense_R572W exm82667 1 110768710 [T/C] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 EXON Missense_S577P,Silent,Missense_S577P exm-rs958798 1 110770223 [T/G] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 Silent,Silent,Silent variant.5512 1 110774841 [A/G] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 Silent,Silent,Silent variant.5513 1 110775470 [A/G] NM_001039574,NR_036437,NM_004978 KCNC4,KCNC4,KCNC4 EXON Silent,Silent,Silent rs2603590 1 110780834 [T/C] rs2181695 1 110781469 [T/C] rs814318 1 110788825 [T/C] rs2198612 1 110790977 [A/C] rs2224807 1 110794827 [A/G] rs2209158 1 110795018 [A/C] rs1323723 1 110814007 [A/G] rs4839287 1 110816152 [A/G] rs3904626 1 110816491 [T/C] rs643841 1 110832827 [T/C] NR_036595 RBM15-AS1 Silent rs4112315 1 110842415 [T/C] NR_036595 RBM15-AS1 Silent exm2249550 1 110847884 [A/G] NR_036595 RBM15-AS1 Silent rs666493 1 110847884 [A/G] NR_036595 RBM15-AS1 Silent rs2201808 1 110862068 [T/C] NR_036595 RBM15-AS1 Silent rs6537656 1 110863079 [T/C] NR_036595 RBM15-AS1 Silent exm1694106 1 110882052 [A/G] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_V9M,Missense_V9M exm82691 1 110882103 [A/G] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_S26G,Missense_S26G exm1694108 1 110882116 [A/G] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_R30Q,Missense_R30Q exm2273675 1 110882221 [G/C] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_T65S,Missense_T65S exm82710 1 110882499 [T/G] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_S158A,Missense_S158A exm82713 1 110882536 [A/G] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_K170R,Missense_K170R exm82734 1 110883034 [A/G] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_Y336C,Missense_Y336C exm82757 1 110883697 [T/C] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_A557V,Missense_A557V exm82765 1 110883852 [A/G] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_E609K,Missense_E609K exm82770 1 110884030 [T/C] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_A668V,Missense_A668V rs1572263 1 110885736 [A/G] NM_001201545,NM_022768 RBM15,RBM15 Silent,Silent rs3768460 1 110887075 [A/G] NM_001201545,NM_022768 RBM15,RBM15 Silent,Silent variant.5516 1 110888172 [T/C] NM_001201545,NM_022768 RBM15,RBM15 EXON Silent,Nonsense_Q959X exm82797 1 110888948 [A/G] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_R961Q,Silent rs12562051 1 110901492 [A/G] exm82801 1 110906406 [T/C] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Nonsense_W420X,Nonsense_W482X,Missense_G379E,Nonsense_W252X,Nonsense_W314X,Nonsense_W434X exm82803 1 110906471 [A/G] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_F399L,Missense_F461L,Synonymous_T357T,Missense_F231L,Missense_F293L,Missense_F413L indel.5518 1 110906495 [D/I] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON rs722570 1 110913120 [T/C] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 Silent,Silent,Silent,Silent,Silent,Silent exm82804 1 110918082 [A/G] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_A383V,Missense_A445V,Missense_A335V,Missense_A215V,Missense_A277V,Missense_A397V exm82814 1 110919703 [A/C] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_S309A,Missense_S371A,Missense_S261A,Missense_S141A,Missense_S203A,Missense_S323A indel.5520 1 110919761 [I/D] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON exm82817 1 110919771 [A/G] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_T286M,Missense_T348M,Missense_T238M,Missense_T118M,Missense_T180M,Missense_T300M exm82825 1 110921715 [T/G] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_N202H,Missense_N264H,Missense_N154H,Silent,Silent,Missense_N216H exm82829 1 110921780 [A/G] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_T180M,Missense_T242M,Missense_T132M,Silent,Silent,Missense_T194M exm82831 1 110921792 [T/A] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_K176M,Missense_K238M,Missense_K128M,Silent,Silent,Missense_K190M exm82834 1 110921843 [T/G] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_E159A,Missense_E221A,Missense_E111A,Silent,Silent,Missense_E173A exm82838 1 110921952 [T/C] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_A123T,Missense_A185T,Missense_A75T,Silent,Silent,Missense_A137T rs2946571 1 110922140 [A/G] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 Silent,Silent,Silent,Silent,Silent,Silent variant.5522 1 110923599 [T/C] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 Silent,Silent,Silent,Silent,Silent,Silent newrs145736696 1 110924274 [T/C] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_G60S,Missense_G122S,Silent,Missense_G60S,Missense_G122S,Silent rs3738750 1 110924353 [A/G] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Synonymous_F33F,Synonymous_F95F,Silent,Synonymous_F33F,Synonymous_F95F,Silent exm82852 1 110924406 [A/C] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_A16S,Missense_A78S,Silent,Missense_A16S,Missense_A78S,Silent indel.5524 1 110924415 [I/D] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON exm82856 1 110925501 [A/T] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Silent,Missense_I59F,Silent,Silent,Missense_I59F,Missense_I59F variant.5525 1 110931854 [A/C] NM_001201547,NM_004696,NM_001201548,NM_001319220,NM_001201549,NM_001201546 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 Silent,Silent,Silent,Silent,Silent,Silent rs12126959 1 110936383 [A/C] exm1694202 1 110946580 [A/G] NM_006402 LAMTOR5 EXON Missense_P141L exm82871 1 110946636 [G/C] NM_006402 LAMTOR5 EXON Missense_E122D rs6671673 1 110949720 [T/C] NM_006402 LAMTOR5 Silent exm82881 1 110950259 [T/C] NM_006402 LAMTOR5 EXON Missense_E77G exm82883 1 110950277 [A/G] NM_006402 LAMTOR5 EXON Missense_P71L exm82888 1 110950295 [A/C] NM_006402 LAMTOR5 EXON Missense_G65V exm82890 1 110950313 [A/G] NM_006402 LAMTOR5 EXON Missense_V59A exm82893 1 110950355 [A/G] NM_006402 LAMTOR5 EXON Missense_P45L exm2230767 1 110950386 [T/G] NM_006402 LAMTOR5 EXON Missense_R35S exm82895 1 110950439 [T/C] NM_006402,NR_102697 LAMTOR5,LAMTOR5-AS1 EXON Missense_S17N,Silent exm82901 1 110950485 [T/C] NM_006402,NR_102697 LAMTOR5,LAMTOR5-AS1 EXON Missense_E2K,Silent rs4839011 1 110955220 [T/G] NR_102697 LAMTOR5-AS1 Silent rs7546690 1 110958034 [A/G] NR_102697 LAMTOR5-AS1 Silent rs4839387 1 110968264 [T/G] rs7515826 1 110974248 [A/G] rs4839015 1 110981370 [A/C] rs7534042 1 110988874 [A/G] rs1857512 1 110993349 [A/G] exm1694244 1 110993852 [A/C] NM_032414 PROK1 EXON Missense_T5K newrs187548600 1 110993854 [T/C] NM_032414 PROK1 EXON Nonsense_R6X exm82905 1 110993866 [A/C] NM_032414 PROK1 EXON Missense_M10L rs4839391 1 110993990 [A/G] NM_032414 PROK1 Silent exm82908 1 110996584 [A/C] NM_032414 PROK1 EXON Missense_A25D exm82909 1 110996620 [A/G] NM_032414 PROK1 EXON Missense_C37Y exm82912 1 110996652 [T/C] NM_032414 PROK1 EXON Missense_R48W exm82915 1 110996673 [A/C] NM_032414 PROK1 EXON Synonymous_R55R exm82918 1 110996698 [G/C] NM_032414 PROK1 EXON Missense_G63A rs7514102 1 110998854 [A/G] NM_032414 PROK1 EXON Missense_V67I exm82919 1 110998854 [A/G] NM_032414 PROK1 EXON Missense_V67I exm82921 1 110998939 [A/G] NM_032414 PROK1 EXON Missense_R95H rs12118420 1 111009859 [T/C] rs11102115 1 111011847 [A/G] rs7537693 1 111016758 [A/G] rs4839417 1 111018598 [T/C] rs17025859 1 111018874 [A/G] rs6677767 1 111022475 [T/C] rs10776712 1 111028588 [A/G] NR_003599 CYMP Silent rs4839431 1 111033809 [T/C] NR_003599 CYMP EXON Silent rs6537664 1 111035174 [T/C] rs815324 1 111038840 [T/C] rs12031009 1 111040235 [A/G] rs561606 1 111041925 [A/G] rs10857825 1 111044227 [T/C] rs1281182 1 111050158 [T/C] exm82930 1 111059908 [T/C] NM_005549 KCNA10 EXON Missense_N501S exm82932 1 111059966 [T/C] NM_005549 KCNA10 EXON Missense_R482G indel.5532 1 111059972 [I/D] NM_005549 KCNA10 EXON exm82934 1 111060013 [T/C] NM_005549 KCNA10 EXON Missense_R466Q exm82941 1 111060153 [T/C] NM_005549 KCNA10 EXON Missense_M419I exm82944 1 111060247 [A/G] NM_005549 KCNA10 EXON Missense_L388P exm82946 1 111060292 [T/C] NM_005549 KCNA10 EXON Missense_R373Q exm82958 1 111060346 [A/G] NM_005549 KCNA10 EXON Missense_S355L exm82974 1 111060617 [T/A] NM_005549 KCNA10 EXON Missense_T265S exm82976 1 111060626 [C/G] NM_005549 KCNA10 EXON Missense_L262V exm82983 1 111060752 [T/C] NM_005549 KCNA10 EXON Missense_V220M exm82993 1 111060922 [T/G] NM_005549 KCNA10 EXON Missense_A163D exm82994 1 111060935 [T/C] NM_005549 KCNA10 EXON Missense_I159V exm82996 1 111060953 [A/G] NM_005549 KCNA10 EXON Missense_R153C rs3748731 1 111061011 [A/C] NM_005549 KCNA10 EXON Synonymous_R133R rs1281174 1 111061062 [T/C] NM_005549 KCNA10 EXON Synonymous_E116E exm1694411 1 111061066 [T/C] NM_005549 KCNA10 EXON Missense_R115Q exm83006 1 111061136 [T/C] NM_005549 KCNA10 EXON Missense_I92V exm83009 1 111061161 [T/G] NM_005549 KCNA10 EXON Missense_E83D exm83012 1 111061194 [G/C] NM_005549 KCNA10 EXON Missense_D72E exm1694415 1 111061270 [A/G] NM_005549 KCNA10 EXON Missense_S47F exm83022 1 111061330 [T/C] NM_005549 KCNA10 EXON Missense_G27D exm83023 1 111061360 [T/C] NM_005549 KCNA10 EXON Missense_D17G rs12748140 1 111080468 [T/C] rs6537666 1 111082521 [A/G] rs1769207 1 111093653 [T/C] rs6537668 1 111100562 [T/C] rs6656346 1 111103688 [A/G] rs17632564 1 111104733 [A/G] rs7532859 1 111127599 [A/C] rs4839069 1 111137811 [A/G] NM_001204269 KCNA2 Silent exm-rs4839069 1 111137811 [A/G] NM_001204269 KCNA2 Silent rs9782928 1 111141682 [T/C] NM_001204269 KCNA2 Silent indel.5536 1 111146925 [D/I] NM_001204269,NM_004974 KCNA2,KCNA2 EXON rs3887820 1 111148080 [A/C] NM_001204269,NM_004974 KCNA2,KCNA2 EXON Silent,Silent rs1032429 1 111151567 [T/C] NM_001204269 KCNA2 Silent rs3860225 1 111161677 [A/G] NM_001204269 KCNA2 Silent rs2172514 1 111166960 [A/G] NM_001204269 KCNA2 Silent exm2259694 1 111171378 [T/C] NM_001204269 KCNA2 Silent rs11102140 1 111172413 [A/G] NM_001204269 KCNA2 Silent rs2797531 1 111173494 [A/G] NM_001204269 KCNA2 Silent rs2640500 1 111181086 [T/C] rs2797537 1 111193595 [A/G] rs1058184 1 111215472 [A/C] NR_109845,NM_002232 KCNA3,KCNA3 EXON Silent,Silent exm83089 1 111216792 [A/G] NM_002232 KCNA3 EXON Missense_R214C exm83095 1 111217028 [A/C] NM_002232 KCNA3 EXON Missense_R135L rs2821557 1 111218920 [T/C] rs3762379 1 111219344 [A/G] exm-rs12061304 1 111237685 [A/G] rs12061304 1 111237685 [A/G] rs343602 1 111257724 [A/G] rs4839557 1 111262809 [A/G] rs343609 1 111270605 [A/G] rs1953099 1 111290542 [A/G] rs440156 1 111295948 [A/G] rs569542 1 111296652 [A/G] rs343791 1 111301623 [T/C] rs11102155 1 111302136 [T/C] rs343792 1 111302518 [T/C] rs574508 1 111311541 [T/C] rs1160413 1 111315694 [A/G] rs556063 1 111318291 [A/G] rs488147 1 111319892 [A/G] rs520056 1 111330531 [A/G] rs4839566 1 111331000 [A/C] rs724032 1 111334391 [A/G] rs343815 1 111336774 [T/C] rs343819 1 111342490 [T/C] exm2268738 1 111369934 [T/C] rs343769 1 111370372 [A/G] rs6655953 1 111371644 [T/C] rs6676798 1 111393436 [T/C] rs6672672 1 111397090 [T/C] rs1494324 1 111415841 [A/G] NM_001040033,NM_001320638,NM_000560 CD53,CD53,CD53 EXON Silent,Silent,Silent rs2885805 1 111417915 [A/C] NM_001040033,NM_001320638,NM_000560 CD53,CD53,CD53 Silent,Silent,Silent rs10857834 1 111421712 [A/C] NM_001040033,NM_001320638,NM_000560 CD53,CD53,CD53 Silent,Silent,Silent rs1494322 1 111422817 [A/G] NM_001040033,NM_001320638,NM_000560 CD53,CD53,CD53 Silent,Silent,Silent rs4839580 1 111430758 [T/C] NM_001040033,NM_001320638,NM_000560 CD53,CD53,CD53 Silent,Silent,Silent exm83120 1 111434034 [A/G] NM_001040033,NM_001320638,NM_000560 CD53,CD53,CD53 EXON Missense_G2S,Missense_G2S,Missense_G2S indel.5539 1 111435149 [I/D] NM_001040033,NM_001320638,NM_000560 CD53,CD53,CD53 EXON exm83132 1 111436989 [A/C] NM_001040033,NM_001320638,NM_000560 CD53,CD53,CD53 EXON Missense_T98N,Missense_T98N,Missense_T98N variant.5540 1 111437678 [A/G] NM_001040033,NM_001320638,NM_000560 CD53,CD53,CD53 Silent,Silent,Silent newrs190729207 1 111439344 [T/C] NM_001040033,NM_001320638,NM_000560 CD53,CD53,CD53 EXON Nonsense_R165X,Silent,Nonsense_R165X exm83148 1 111439345 [A/G] NM_001040033,NM_001320638,NM_000560 CD53,CD53,CD53 EXON Missense_R165Q,Silent,Missense_R165Q rs4839586 1 111439902 [T/C] NM_001040033,NM_001320638,NM_000560 CD53,CD53,CD53 Silent,Silent,Silent rs7521468 1 111449999 [T/C] rs1282023 1 111459847 [T/C] rs12077952 1 111465615 [A/C] rs1712674 1 111466053 [A/C] rs1418425 1 111468886 [T/C] rs2885806 1 111470050 [A/G] rs11102184 1 111485207 [A/G] exm83165 1 111490670 [A/G] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Nonsense_R205X,Nonsense_R741X exm1695394 1 111490672 [A/G] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Missense_I204T,Missense_I740T exm83166 1 111490690 [A/G] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Missense_P198L,Missense_P734L exm83171 1 111490837 [T/C] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Missense_S149N,Missense_S685N exm83172 1 111490850 [T/G] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Missense_L145I,Missense_L681I exm83180 1 111492507 [A/G] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Missense_T76I,Missense_T612I exm83183 1 111492547 [A/G] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Missense_S63P,Missense_S599P exm1695405 1 111494092 [A/C] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Silent,Missense_L472V exm83204 1 111494194 [T/C] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Silent,Missense_A438T rs2232041 1 111494194 [T/C] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Silent,Missense_A438T exm83206 1 111494287 [T/G] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Silent,Missense_I407L indel.5544 1 111494346 [D/I] NM_001006945,NM_018372 LRIF1,LRIF1 EXON variant.5545 1 111494470 [A/G] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Silent,Nonsense_R346X variant.5546 1 111494707 [A/G] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Silent,Nonsense_Q267X indel.5547 1 111494874 [I/D] NM_001006945,NM_018372 LRIF1,LRIF1 EXON rs1418426 1 111498111 [T/C] NM_001006945,NM_018372 LRIF1,LRIF1 Silent,Silent rs4838884 1 111528570 [A/G] rs7545868 1 111543527 [T/C] rs1149185 1 111546531 [T/C] rs6686512 1 111557205 [A/G] rs1282288 1 111557266 [T/C] rs1282330 1 111573680 [A/G] rs1578790 1 111575921 [T/G] rs1782838 1 111585494 [A/G] rs1659659 1 111586053 [T/C] rs11583268 1 111586123 [T/G] rs11102208 1 111610738 [T/C] rs1282129 1 111622739 [A/G] rs1282275 1 111629571 [A/G] rs11102212 1 111642031 [A/G] rs6662965 1 111642226 [A/C] rs17026872 1 111646770 [A/G] rs11002 1 111660540 [T/C] NM_001349893,NR_146307,NM_001349881,NM_001349882,NM_001349884,NR_146301,NR_146302,NM_001349885,NR_146308,NR_146303,NR_146305,NR_146306,NM_178454,NR_146304,NM_001349886,NM_001349890,NM_001349887,NM_001349888,NM_001349891,NM_001349889,NM_001349892 DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm83244 1 111660846 [A/G] NM_001349893,NR_146307,NM_001349881,NM_001349882,NM_001349884,NR_146301,NR_146302,NM_001349885,NR_146308,NR_146303,NR_146305,NR_146306,NM_178454,NR_146304,NM_001349886,NM_001349890,NM_001349887,NM_001349888,NM_001349891,NM_001349889,NM_001349892 DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2 EXON Missense_L116P,Silent,Missense_L246P,Missense_L246P,Missense_L246P,Silent,Silent,Missense_L246P,Silent,Silent,Silent,Silent,Missense_L246P,Silent,Missense_L156P,Missense_L116P,Missense_L156P,Missense_L156P,Missense_L116P,Missense_L116P,Missense_L116P indel.5549 1 111661439 [I/D] NM_001349893,NR_146307,NM_001349881,NM_001349882,NM_001349884,NR_146301,NR_146302,NM_001349885,NR_146308,NR_146303,NR_146305,NR_146306,NM_178454,NR_146304,NM_001349886,NM_001349890,NM_001349887,NM_001349888,NM_001349891,NM_001349889,NM_001349892 DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2 EXON variant.5550 1 111661442 [T/G] NM_001349893,NR_146307,NM_001349881,NM_001349882,NM_001349884,NR_146301,NR_146302,NM_001349885,NR_146308,NR_146303,NR_146305,NR_146306,NM_178454,NR_146304,NM_001349886,NM_001349890,NM_001349887,NM_001349888,NM_001349891,NM_001349889,NM_001349892 DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2 EXON Nonsense_Y96X,Silent,Nonsense_Y226X,Nonsense_Y226X,Nonsense_Y226X,Silent,Silent,Nonsense_Y226X,Silent,Silent,Silent,Silent,Nonsense_Y226X,Silent,Nonsense_Y136X,Nonsense_Y96X,Nonsense_Y136X,Nonsense_Y136X,Nonsense_Y96X,Nonsense_Y96X,Nonsense_Y96X exm83250 1 111661488 [C/G] NM_001349893,NR_146307,NM_001349881,NM_001349882,NM_001349884,NR_146301,NR_146302,NM_001349885,NR_146308,NR_146303,NR_146305,NR_146306,NM_178454,NR_146304,NM_001349886,NM_001349890,NM_001349887,NM_001349888,NM_001349891,NM_001349889,NM_001349892 DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2 EXON Missense_A81G,Silent,Missense_A211G,Missense_A211G,Missense_A211G,Silent,Silent,Missense_A211G,Silent,Silent,Silent,Silent,Missense_A211G,Silent,Missense_A121G,Missense_A81G,Missense_A121G,Missense_A121G,Missense_A81G,Missense_A81G,Missense_A81G exm83255 1 111663161 [T/C] NM_001349893,NR_146307,NM_001349881,NM_001349882,NM_001349884,NR_146301,NR_146302,NM_001349885,NR_146308,NR_146303,NR_146305,NR_146306,NM_178454,NR_146304,NM_001349886,NM_001349890,NM_001349887,NM_001349888,NM_001349891,NM_001349889,NM_001349892 DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2 EXON Nonsense_W35X,Silent,Nonsense_W165X,Nonsense_W165X,Nonsense_W165X,Silent,Silent,Nonsense_W165X,Silent,Silent,Silent,Silent,Nonsense_W165X,Silent,Nonsense_W75X,Nonsense_W35X,Nonsense_W75X,Nonsense_W75X,Nonsense_W35X,Nonsense_W35X,Nonsense_W35X exm83260 1 111663308 [A/G] NM_001349893,NR_146307,NM_001349881,NM_001349882,NM_001349884,NR_146301,NR_146302,NM_001349885,NR_146308,NR_146303,NR_146305,NR_146306,NM_178454,NR_146304,NM_001349886,NM_001349890,NM_001349887,NM_001349888,NM_001349891,NM_001349889,NM_001349892 DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2 EXON Silent,Silent,Missense_T116I,Missense_T116I,Missense_T116I,Silent,Silent,Missense_T116I,Silent,Silent,Silent,Silent,Missense_T116I,Silent,Missense_T26I,Silent,Missense_T26I,Missense_T26I,Silent,Silent,Silent exm83261 1 111667381 [T/C] NM_001349893,NR_146307,NM_001349881,NM_001349882,NM_001349884,NR_146301,NR_146302,NM_001349885,NR_146308,NR_146303,NR_146305,NR_146306,NM_178454,NR_146304,NM_001349886,NM_001349890,NM_001349887,NM_001349888,NM_001349891,NM_001349889,NM_001349892 DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2 EXON Silent,Silent,Missense_I108V,Missense_I108V,Missense_I108V,Silent,Silent,Missense_I108V,Silent,Silent,Silent,Silent,Missense_I108V,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.5555 1 111674084 [I/D] NM_001349893,NR_146307,NM_001349881,NM_001349882,NM_001349884,NR_146301,NR_146302,NM_001349885,NR_146308,NR_146303,NR_146305,NR_146306,NM_178454,NR_146304,NM_001349886,NM_001349890,NM_001349887,NM_001349888,NM_001349891,NM_001349889,NM_001349892 DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2,DRAM2 EXON rs1335645 1 111684276 [A/G] NM_001007794,NR_138485,NM_001330743,NM_006090,NR_138483,NR_138484 CEPT1,CEPT1,CEPT1,CEPT1,CEPT1,CEPT1 Silent,Silent,Silent,Silent,Silent,Silent exm83282 1 111690455 [T/C] NM_001007794,NR_138485,NM_001330743,NM_006090,NR_138483,NR_138484 CEPT1,CEPT1,CEPT1,CEPT1,CEPT1,CEPT1 EXON Missense_T40I,Silent,Missense_T40I,Missense_T40I,Silent,Silent exm83289 1 111702020 [A/G] NM_001007794,NR_138485,NM_001330743,NM_006090,NR_138483,NR_138484 CEPT1,CEPT1,CEPT1,CEPT1,CEPT1,CEPT1 EXON Missense_I120V,Silent,Missense_I120V,Missense_I120V,Silent,Silent exm83305 1 111724915 [T/G] NM_001007794,NR_138485,NM_001330743,NM_006090,NR_138483,NR_138484 CEPT1,CEPT1,CEPT1,CEPT1,CEPT1,CEPT1 EXON Missense_V274G,Silent,Missense_V274G,Missense_V274G,Silent,Silent rs694180 1 111726213 [A/G] NM_001007794,NR_138485,NM_001330743,NM_006090,NR_138483,NR_138484 CEPT1,CEPT1,CEPT1,CEPT1,CEPT1,CEPT1 Silent,Silent,Silent,Silent,Silent,Silent exm83314 1 111726906 [T/G] NM_001007794,NR_138485,NM_001330743,NM_006090,NR_138483,NR_138484 CEPT1,CEPT1,CEPT1,CEPT1,CEPT1,CEPT1 EXON Missense_S409A,Silent,Missense_S409A,Missense_S409A,Silent,Silent rs626339 1 111729325 [T/C] NM_024901,NM_001271833 DENND2D,DENND2D EXON Silent,Silent exm83328 1 111730833 [T/C] NM_024901,NM_001271833 DENND2D,DENND2D EXON Missense_R420Q,Missense_R417Q exm83329 1 111730899 [T/G] NM_024901,NM_001271833 DENND2D,DENND2D EXON Missense_A398E,Missense_A395E exm2230779 1 111730966 [A/G] NM_024901,NM_001271833 DENND2D,DENND2D EXON Missense_S376P,Missense_S373P newrs146280067 1 111731323 [T/C] NM_024901,NM_001271833 DENND2D,DENND2D Silent,Silent exm83351 1 111737293 [A/G] NM_024901,NM_001271833 DENND2D,DENND2D EXON Missense_S234F,Missense_S231F rs9970286 1 111737398 [A/G] NM_024901,NM_001271833 DENND2D,DENND2D Silent,Silent exm83368 1 111739812 [T/C] NM_024901,NM_001271833 DENND2D,DENND2D EXON Missense_G164S,Missense_G161S exm83370 1 111739856 [T/C] NM_024901,NM_001271833 DENND2D,DENND2D EXON Missense_R149H,Missense_R146H exm1696143 1 111740585 [T/C] NM_024901,NM_001271833 DENND2D,DENND2D EXON Missense_N128S,Missense_N125S exm83383 1 111741349 [A/G] NM_024901,NM_001271833 DENND2D,DENND2D EXON Missense_R87W,Missense_R84W exm83397 1 111743032 [A/C] NM_024901,NM_001271833 DENND2D,DENND2D EXON Missense_L17R,Silent exm1696156 1 111743035 [T/C] NM_024901,NM_001271833 DENND2D,DENND2D EXON Missense_R16Q,Silent exm83398 1 111743036 [A/G] NM_024901,NM_001271833 DENND2D,DENND2D EXON Nonsense_R16X,Silent rs2296381 1 111746355 [T/C] NM_001271833 DENND2D Silent rs2477582 1 111748325 [A/G] rs17014713 1 111763153 [T/C] rs12070867 1 111772365 [T/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Silent,Silent,Silent exm1696207 1 111773462 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_S57P,Missense_S47P,Silent exm83429 1 111773903 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_F106L,Missense_F96L,Missense_F27L exm83432 1 111777529 [A/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Synonymous_G110G,Synonymous_G100G,Synonymous_G31G exm83433 1 111777560 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_R121C,Missense_R111C,Missense_R42C exm83434 1 111777571 [A/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_F124L,Missense_F114L,Missense_F45L exm83435 1 111777575 [A/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_N126D,Missense_N116D,Missense_N47D newrs144364957 1 111777623 [A/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_V142I,Missense_V132I,Missense_V63I exm83441 1 111778325 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_A182V,Missense_A172V,Missense_A103V exm83442 1 111778328 [A/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_G183D,Missense_G173D,Missense_G104D exm83444 1 111778330 [A/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_V184I,Missense_V174I,Missense_V105I variant.5564 1 111778385 [A/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_K202T,Missense_K192T,Missense_K123T exm83450 1 111778692 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_W218R,Missense_W208R,Missense_W139R exm1696250 1 111778701 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_P221S,Missense_P211S,Missense_P142S rs2251608 1 111778824 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 Silent,Silent,Silent exm83460 1 111781397 [A/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_H254P,Missense_H244P,Missense_H175P exm83465 1 111781504 [A/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_G290R,Missense_G280R,Missense_G211R exm83466 1 111781528 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_S298P,Missense_S288P,Missense_S219P exm83467 1 111781535 [G/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_G300A,Missense_G290A,Missense_G221A exm83469 1 111781555 [G/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 Silent,Silent,Silent exm83471 1 111783947 [A/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 Silent,Silent,Silent newrs149638402 1 111783947 [A/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 Silent,Silent,Silent exm83482 1 111784037 [A/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_Y336C,Missense_Y326C,Missense_Y257C rs11102221 1 111784816 [A/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 Silent,Silent,Silent variant.5568 1 111784848 [T/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 Silent,Silent,Silent exm2230781 1 111784945 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_P378S,Missense_P368S,Missense_P299S rs3934923 1 111785467 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 Silent,Silent,Silent rs7514853 1 111794733 [A/G] rs3122591 1 111810174 [T/C] rs3118208 1 111812709 [A/G] rs6702380 1 111818052 [A/G] rs6703883 1 111820644 [T/G] rs12048213 1 111821434 [T/G] rs4838896 1 111821777 [T/C] rs12028469 1 111822648 [A/C] rs4323713 1 111823220 [T/G] NR_003928 CHIAP2 Silent rs4575084 1 111826609 [A/G] NR_003928 CHIAP2 Silent rs3806446 1 111832291 [T/C] rs4838897 1 111833661 [T/C] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12563158 1 111846416 [T/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7531210 1 111852352 [T/C] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4839122 1 111854207 [T/C] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2263358 1 111854859 [T/C] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Missense_R35W,Silent,Silent,Silent,Silent,Silent exm83509 1 111854889 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Missense_N45D,Silent,Silent,Silent,Silent,Silent exm83510 1 111854895 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Missense_D47N,Silent,Silent,Silent,Silent,Silent exm83514 1 111854925 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Missense_A57T,Silent,Silent,Silent,Silent,Silent exm83515 1 111854938 [T/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Missense_R61M,Silent,Silent,Silent,Silent,Silent rs2786151 1 111857087 [T/C] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs2786152 1 111857154 [T/C] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm83522 1 111857201 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Nonsense_W99X,Silent,Silent,Silent,Silent,Silent exm83523 1 111857208 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Missense_G102R,Silent,Silent,Silent,Silent,Silent exm1696802 1 111857219 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm83529 1 111857951 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Missense_K125R,Silent,Silent,Missense_K17R,Missense_K17R,Missense_K17R exm83536 1 111858053 [T/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Missense_V159G,Silent,Silent,Missense_V51G,Missense_V51G,Missense_V51G exm2230784 1 111860310 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_R2H,Missense_R2H,Missense_R163H,Missense_R2H,Missense_R2H,Missense_R55H,Missense_R55H,Missense_R55H variant.5573 1 111860324 [T/C] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Nonsense_Q7X,Nonsense_Q7X,Nonsense_Q168X,Nonsense_Q7X,Nonsense_Q7X,Nonsense_Q60X,Nonsense_Q60X,Nonsense_Q60X exm83542 1 111860327 [T/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Nonsense_E8X,Nonsense_E8X,Nonsense_E169X,Nonsense_E8X,Nonsense_E8X,Nonsense_E61X,Nonsense_E61X,Nonsense_E61X exm83545 1 111860339 [T/A] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_I12F,Missense_I12F,Missense_I173F,Missense_I12F,Missense_I12F,Missense_I65F,Missense_I65F,Missense_I65F exm83558 1 111861114 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent newrs144676218 1 111861114 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1696821 1 111861196 [T/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_F110V,Missense_F110V,Missense_F271V,Missense_F110V,Missense_F110V,Missense_F163V,Missense_F163V,Missense_F163V exm83565 1 111861217 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_N117D,Missense_N117D,Missense_N278D,Missense_N117D,Missense_N117D,Missense_N170D,Missense_N170D,Missense_N170D exm83566 1 111861233 [T/C] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_A122V,Missense_A122V,Missense_A283V,Missense_A122V,Missense_A122V,Missense_A175V,Missense_A175V,Missense_A175V exm83567 1 111861248 [T/C] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_A127V,Missense_A127V,Missense_A288V,Missense_A127V,Missense_A127V,Missense_A180V,Missense_A180V,Missense_A180V exm83570 1 111861268 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_A134T,Missense_A134T,Missense_A295T,Missense_A134T,Missense_A134T,Missense_A187T,Missense_A187T,Missense_A187T exm83575 1 111861741 [C/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm83577 1 111861776 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_G156E,Missense_G156E,Missense_G317E,Missense_G156E,Missense_G156E,Missense_G209E,Missense_G209E,Missense_G209E rs2275253 1 111861841 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_I178V,Missense_I178V,Missense_I339V,Missense_I178V,Missense_I178V,Missense_I231V,Missense_I231V,Missense_I231V exm83582 1 111861841 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_I178V,Missense_I178V,Missense_I339V,Missense_I178V,Missense_I178V,Missense_I231V,Missense_I231V,Missense_I231V exm83586 1 111861974 [T/C] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_F193S,Missense_F193S,Missense_F354S,Missense_F193S,Missense_F193S,Missense_F246S,Missense_F246S,Missense_F246S rs2275254 1 111861974 [T/C] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_F193S,Missense_F193S,Missense_F354S,Missense_F193S,Missense_F193S,Missense_F246S,Missense_F246S,Missense_F246S exm83588 1 111861982 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_A196T,Missense_A196T,Missense_A357T,Missense_A196T,Missense_A196T,Missense_A249T,Missense_A249T,Missense_A249T exm83592 1 111862064 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_K223R,Missense_K223R,Missense_K384R,Missense_K223R,Missense_K223R,Missense_K276R,Missense_K276R,Missense_K276R exm83599 1 111862889 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_S250N,Missense_S250N,Missense_S411N,Missense_S250N,Missense_S250N,Missense_S303N,Missense_S303N,Missense_S303N exm83601 1 111862903 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_G255R,Missense_G255R,Missense_G416R,Missense_G255R,Missense_G255R,Missense_G308R,Missense_G308R,Missense_G308R exm83604 1 111862952 [T/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_V271G,Missense_V271G,Missense_V432G,Missense_V271G,Missense_V271G,Missense_V324G,Missense_V324G,Missense_V324G exm83607 1 111862973 [C/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_P278R,Missense_P278R,Missense_P439R,Missense_P278R,Missense_P278R,Missense_P331R,Missense_P331R,Missense_P331R exm83611 1 111863034 [C/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_N298K,Missense_N298K,Missense_N459K,Missense_N298K,Missense_N298K,Missense_N351K,Missense_N351K,Missense_N351K exm83614 1 111863044 [A/G] NM_001258005,NM_001258004,NM_201653,NM_001040623,NM_001258002,NM_001258001,NM_001258003,NM_021797 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_G302R,Missense_G302R,Missense_G463R,Missense_G302R,Missense_G302R,Missense_G355R,Missense_G355R,Missense_G355R rs10776724 1 111869487 [A/C] rs1832286 1 111873172 [T/C] rs2820075 1 111875202 [T/G] rs7532160 1 111875706 [A/G] exm2230788 1 111889283 [C/G] NR_125338,NM_001300831,NM_181643 PIFO,PIFO,PIFO EXON Silent,Missense_F3L,Missense_F3L exm83620 1 111889294 [A/G] NR_125338,NM_001300831,NM_181643 PIFO,PIFO,PIFO Silent,Silent,Silent rs11102256 1 111889391 [T/C] NR_125338,NM_001300831,NM_181643 PIFO,PIFO,PIFO Silent,Silent,Silent exm83625 1 111889636 [T/C] NR_125338,NM_001300831,NM_181643 PIFO,PIFO,PIFO EXON Silent,Missense_S42P,Missense_S42P exm83628 1 111890375 [A/G] NR_125338,NM_001300831,NM_181643 PIFO,PIFO,PIFO EXON Silent,Silent,Missense_R80K indel.5582 1 111891168 [I/D] NR_125338,NM_001300831,NM_181643 PIFO,PIFO,PIFO EXON exm83629 1 111891170 [A/C] NR_125338,NM_001300831,NM_181643 PIFO,PIFO,PIFO EXON Silent,Missense_K64N,Missense_K97N exm83630 1 111891192 [A/C] NR_125338,NM_001300831,NM_181643 PIFO,PIFO,PIFO EXON Silent,Missense_H72N,Missense_H105N newrs143677685 1 111891231 [T/C] NR_125338,NM_001300831,NM_181643 PIFO,PIFO,PIFO EXON Silent,Nonsense_R85X,Nonsense_R118X rs3820443 1 111892905 [T/C] NR_125338,NM_001300831,NM_181643 PIFO,PIFO,PIFO Silent,Silent,Silent exm83645 1 111893914 [A/G] NR_125338,NM_001300831,NM_181643 PIFO,PIFO,PIFO EXON Silent,Missense_N148D,Missense_N181D rs1668 1 111893958 [A/G] NR_125338,NM_001300831,NM_181643 PIFO,PIFO,PIFO EXON Silent,Silent,Silent exm2264890 1 111897335 [A/G] rs11102257 1 111897335 [A/G] rs1106189 1 111899929 [A/G] rs11102258 1 111900279 [T/C] rs2050605 1 111903304 [T/C] rs6663292 1 111904494 [A/G] rs5011850 1 111908450 [T/C] rs11102263 1 111916670 [T/C] rs7513936 1 111924907 [A/G] rs4839130 1 111925349 [A/G] rs6537699 1 111926153 [A/G] rs17027591 1 111930990 [T/C] NR_029429 PGCP1 EXON Silent rs1264880 1 111944073 [T/G] rs1777833 1 111956473 [A/G] exm83649 1 111957097 [C/G] NM_002557 OVGP1 EXON Missense_E676Q exm83652 1 111957201 [T/C] NM_002557 OVGP1 EXON Missense_R641H exm83660 1 111957311 [G/C] NM_002557 OVGP1 EXON Missense_H604Q exm83661 1 111957315 [A/G] NM_002557 OVGP1 EXON Missense_T603I exm83663 1 111957370 [C/G] NM_002557 OVGP1 EXON Missense_P585A exm83664 1 111957411 [T/C] NM_002557 OVGP1 EXON Missense_R571H exm83665 1 111957501 [G/C] NM_002557 OVGP1 EXON Missense_S541T exm2230790 1 111957505 [T/C] NM_002557 OVGP1 EXON Missense_V540M exm83667 1 111957517 [T/C] NM_002557 OVGP1 EXON Missense_S536G exm83670 1 111957525 [G/C] NM_002557 OVGP1 EXON Missense_T533S exm83693 1 111957583 [A/G] NM_002557 OVGP1 EXON Missense_Y514H exm83696 1 111957601 [T/C] NM_002557 OVGP1 EXON Missense_T508A exm83697 1 111957613 [T/G] NM_002557 OVGP1 EXON Missense_T504P exm83698 1 111957615 [G/C] NM_002557 OVGP1 EXON Missense_T503S exm83700 1 111957639 [T/G] NM_002557 OVGP1 EXON Missense_T495N exm83702 1 111957688 [T/C] NM_002557 OVGP1 EXON Missense_M479V exm83704 1 111957693 [A/G] NM_002557 OVGP1 EXON Missense_M477T rs2485319 1 111957693 [A/G] NM_002557 OVGP1 EXON Missense_M477T exm83705 1 111957721 [T/C] NM_002557 OVGP1 EXON Missense_G468R exm1697697 1 111957729 [A/G] NM_002557 OVGP1 EXON Missense_V465A exm83711 1 111957879 [A/G] NM_002557 OVGP1 EXON Missense_T415M var_1_111957912 1 111957912 [T/G] NM_002557 OVGP1 EXON Nonsense_S404X rs10489791 1 111958885 [A/C] NM_002557 OVGP1 Silent exm83719 1 111959075 [T/C] NM_002557 OVGP1 EXON Nonsense_W342X rs4838910 1 111959983 [T/C] NM_002557 OVGP1 Silent exm83724 1 111962256 [T/G] NM_002557 OVGP1 EXON Missense_D332E indel.5588 1 111962306 [I/D] NM_002557 OVGP1 EXON variant.5589 1 111962326 [A/G] NM_002557 OVGP1 EXON Missense_A309V exm83730 1 111963998 [T/C] NM_002557 OVGP1 EXON Missense_R268H exm83743 1 111965646 [T/C] NM_002557 OVGP1 EXON Missense_A171T indel.5590 1 111966210 [I/D] NM_002557 OVGP1 EXON exm83754 1 111968024 [A/C] NM_002557 OVGP1 EXON Missense_W100G newrs1264887 1 111968121 [T/C] NM_002557 OVGP1 Silent indel.5593 1 111969120 [D/I] NM_002557 OVGP1 EXON exm83772 1 111983887 [A/G] NM_024102,NR_133654,NM_001317062,NM_001317064,NM_001317063 WDR77,WDR77,WDR77,WDR77,WDR77 EXON Missense_L332F,Silent,Missense_L344F,Missense_L268F,Missense_L330F exm83782 1 111985362 [A/G] NM_024102,NR_133654,NM_001317062,NM_001317064,NM_001317063 WDR77,WDR77,WDR77,WDR77,WDR77 EXON Missense_S238F,Silent,Missense_S238F,Missense_S174F,Missense_S238F rs1264901 1 111987035 [T/C] NM_024102,NR_133654,NM_001317062,NM_001317064,NM_001317063 WDR77,WDR77,WDR77,WDR77,WDR77 Silent,Silent,Silent,Silent,Silent exm83827 1 111996904 [A/G] NM_001688 ATP5PB EXON Missense_Y50C exm83833 1 111998734 [A/G] NM_001688 ATP5PB EXON Missense_I84V rs12039707 1 112000344 [T/G] NM_001688 ATP5PB Silent exm83845 1 112002094 [A/G] NM_001688 ATP5PB EXON Missense_A177T exm83846 1 112002113 [A/G] NM_001688 ATP5PB EXON Missense_R183Q exm83853 1 112002187 [C/G] NM_001688 ATP5PB EXON Missense_R208G rs10489794 1 112008135 [A/G] exm83861 1 112018657 [A/G] NM_174896,NM_001300835,NM_001300834 C1orf162,C1orf162,C1orf162 EXON Missense_G3S,Synonymous_E5E,Missense_G3S exm1697903 1 112019467 [T/C] NM_174896,NM_001300835,NM_001300834 C1orf162,C1orf162,C1orf162 EXON Missense_P29S,Synonymous_H31H,Missense_P29S variant.5595 1 112020050 [T/C] NM_174896,NM_001300835,NM_001300834 C1orf162,C1orf162,C1orf162 EXON Missense_Y68H,Silent,Missense_Y68H variant.5596 1 112020051 [A/G] NM_174896,NM_001300835,NM_001300834 C1orf162,C1orf162,C1orf162 Silent,Silent,Silent exm83872 1 112020320 [A/G] NM_174896,NM_001300835,NM_001300834 C1orf162,C1orf162,C1orf162 EXON Missense_V84I,Missense_V55I,Silent indel.5597 1 112020397 [D/I] NM_174896,NM_001300835,NM_001300834 C1orf162,C1orf162,C1orf162 EXON newrs147652304 1 112020623 [T/G] NM_174896,NM_001300835,NM_001300834 C1orf162,C1orf162,C1orf162 EXON Nonsense_E116X,Nonsense_E87X,Nonsense_E91X exm83880 1 112020645 [A/C] NM_174896,NM_001300835,NM_001300834 C1orf162,C1orf162,C1orf162 EXON Missense_T123K,Missense_T94K,Missense_T98K exm2230799 1 112020683 [A/G] NM_174896,NM_001300835,NM_001300834 C1orf162,C1orf162,C1orf162 EXON Missense_A136T,Missense_A107T,Missense_A111T exm83888 1 112026370 [A/G] NM_020683,NM_001302680,NM_001081976 TMIGD3,TMIGD3,TMIGD3 EXON Missense_T328I,Missense_T159I,Missense_T247I indel.5600 1 112028387 [D/I] NM_020683,NM_001302680,NM_001081976 TMIGD3,TMIGD3,TMIGD3 EXON exm83900 1 112028460 [A/G] NM_020683,NM_001302680,NM_001081976 TMIGD3,TMIGD3,TMIGD3 EXON Missense_T292M,Missense_T123M,Missense_T211M exm83907 1 112029215 [A/G] NM_020683,NM_001302680,NM_001081976 TMIGD3,TMIGD3,TMIGD3 EXON Missense_R289C,Missense_R120C,Missense_R208C exm83909 1 112029226 [T/C] NM_020683,NM_001302680,NM_001081976 TMIGD3,TMIGD3,TMIGD3 EXON Missense_R285H,Missense_R116H,Missense_R204H exm83911 1 112029241 [A/G] NM_020683,NM_001302680,NM_001081976 TMIGD3,TMIGD3,TMIGD3 EXON Missense_A280V,Missense_A111V,Missense_A199V exm2273677 1 112031476 [T/C] NM_020683,NM_001302680,NM_001081976 TMIGD3,TMIGD3,TMIGD3 EXON Missense_A210T,Missense_A41T,Missense_A129T rs7544118 1 112032205 [T/C] NM_020683,NM_001302680,NM_001081976 TMIGD3,TMIGD3,TMIGD3 Silent,Silent,Silent rs3393 1 112042149 [T/C] NM_020683,NM_001302680,NM_001081976,NM_001302679,NM_000677,NM_001302678 TMIGD3,TMIGD3,TMIGD3,ADORA3,ADORA3,ADORA3 EXON Silent,Silent,Silent,Silent,Silent,Silent exm83930 1 112042574 [A/G] NM_020683,NM_001302680,NM_001081976,NM_001302679,NM_000677,NM_001302678 TMIGD3,TMIGD3,TMIGD3,ADORA3,ADORA3,ADORA3 EXON Silent,Silent,Silent,Missense_X174Q,Missense_X319Q,Silent rs2229155 1 112042632 [A/G] NM_020683,NM_001302680,NM_001081976,NM_001302679,NM_000677,NM_001302678 TMIGD3,TMIGD3,TMIGD3,ADORA3,ADORA3,ADORA3 EXON Silent,Silent,Silent,Synonymous_A154A,Synonymous_A299A,Silent exm83937 1 112042732 [T/A] NM_020683,NM_001302680,NM_001081976,NM_001302679,NM_000677,NM_001302678 TMIGD3,TMIGD3,TMIGD3,ADORA3,ADORA3,ADORA3 EXON Silent,Silent,Silent,Missense_M121K,Missense_M266K,Silent exm83938 1 112042787 [T/G] NM_020683,NM_001302680,NM_001081976,NM_001302679,NM_000677,NM_001302678 TMIGD3,TMIGD3,TMIGD3,ADORA3,ADORA3,ADORA3 EXON Silent,Silent,Silent,Missense_I103L,Missense_I248L,Silent exm83945 1 112042946 [T/C] NM_020683,NM_001302680,NM_001081976,NM_001302679,NM_000677,NM_001302678 TMIGD3,TMIGD3,TMIGD3,ADORA3,ADORA3,ADORA3 EXON Silent,Silent,Silent,Missense_A50T,Missense_A195T,Silent indel.5602 1 112045694 [D/I] NM_020683,NM_001302680,NM_001081976,NM_001302679,NM_000677,NM_001302678 TMIGD3,TMIGD3,TMIGD3,ADORA3,ADORA3,ADORA3 EXON exm83972 1 112045709 [G/C] NM_020683,NM_001302680,NM_001081976,NM_001302679,NM_000677,NM_001302678 TMIGD3,TMIGD3,TMIGD3,ADORA3,ADORA3,ADORA3 EXON Missense_L90V,Silent,Silent,Silent,Missense_L90V,Missense_L90V exm83974 1 112045734 [T/G] NM_020683,NM_001302680,NM_001081976,NM_001302679,NM_000677,NM_001302678 TMIGD3,TMIGD3,TMIGD3,ADORA3,ADORA3,ADORA3 EXON Nonsense_Y81X,Silent,Silent,Silent,Nonsense_Y81X,Nonsense_Y81X newrs146244517 1 112045734 [T/G] NM_020683,NM_001302680,NM_001081976,NM_001302679,NM_000677,NM_001302678 TMIGD3,TMIGD3,TMIGD3,ADORA3,ADORA3,ADORA3 EXON Nonsense_Y81X,Silent,Silent,Silent,Nonsense_Y81X,Nonsense_Y81X exm83980 1 112045886 [T/C] NM_020683,NM_001302680,NM_001081976,NM_001302679,NM_000677,NM_001302678 TMIGD3,TMIGD3,TMIGD3,ADORA3,ADORA3,ADORA3 EXON Missense_V31M,Silent,Silent,Silent,Missense_V31M,Missense_V31M exm83981 1 112045912 [A/G] NM_020683,NM_001302680,NM_001081976,NM_001302679,NM_000677,NM_001302678 TMIGD3,TMIGD3,TMIGD3,ADORA3,ADORA3,ADORA3 EXON Missense_I22T,Silent,Silent,Silent,Missense_I22T,Missense_I22T rs1544224 1 112046540 [A/G] NM_020683,NM_001302680,NM_001081976,NM_001302679,NM_000677,NM_001302678 TMIGD3,TMIGD3,TMIGD3,ADORA3,ADORA3,ADORA3 EXON Silent,Silent,Silent,Silent,Silent,Silent rs11102290 1 112055085 [T/C] NM_001302680,NM_001081976 TMIGD3,TMIGD3 Silent,Silent rs4839142 1 112061479 [A/G] NM_001302680,NM_001081976 TMIGD3,TMIGD3 Silent,Silent rs10489796 1 112078745 [T/C] NM_001302680,NM_001081976 TMIGD3,TMIGD3 Silent,Silent rs3849171 1 112081591 [A/G] NM_001302680,NM_001081976 TMIGD3,TMIGD3 Silent,Silent rs2789535 1 112082564 [T/C] NM_001302680,NM_001081976 TMIGD3,TMIGD3 Silent,Silent rs2185029 1 112086030 [T/C] NM_001302680,NM_001081976 TMIGD3,TMIGD3 Silent,Silent rs2800900 1 112095169 [T/C] NM_001302680,NM_001081976 TMIGD3,TMIGD3 Silent,Silent rs7533936 1 112101405 [A/G] NM_001302680,NM_001081976 TMIGD3,TMIGD3 Silent,Silent rs2800903 1 112103432 [T/C] NM_001302680,NM_001081976 TMIGD3,TMIGD3 Silent,Silent rs2364815 1 112106247 [T/G] NM_001302680,NM_001081976 TMIGD3,TMIGD3 Silent,Silent rs10494135 1 112114427 [T/C] rs10857898 1 112120953 [A/G] rs1609633 1 112129888 [A/G] rs1780555 1 112140475 [A/G] rs2786991 1 112147569 [T/C] NR_034126 LINC01160 Silent rs11102314 1 112153539 [T/C] rs4839154 1 112156965 [A/C] rs508594 1 112165171 [T/G] NM_001010935,NM_002884,NM_001291896 RAP1A,RAP1A,RAP1A Silent,Silent,Silent rs472159 1 112186337 [T/C] NM_001010935,NM_002884,NM_001291896 RAP1A,RAP1A,RAP1A Silent,Silent,Silent exm-rs494453 1 112192122 [T/C] NM_001010935,NM_002884,NM_001291896 RAP1A,RAP1A,RAP1A Silent,Silent,Silent rs2477429 1 112206429 [A/G] NM_001010935,NM_002884,NM_001291896 RAP1A,RAP1A,RAP1A Silent,Silent,Silent rs10489469 1 112234084 [T/G] NM_001010935,NM_002884,NM_001291896 RAP1A,RAP1A,RAP1A Silent,Silent,Silent rs558989 1 112241795 [A/G] NM_001010935,NM_002884,NM_001291896 RAP1A,RAP1A,RAP1A Silent,Silent,Silent rs7526355 1 112241952 [A/C] NM_001010935,NM_002884,NM_001291896 RAP1A,RAP1A,RAP1A Silent,Silent,Silent rs12751967 1 112243947 [A/G] NM_001010935,NM_002884,NM_001291896 RAP1A,RAP1A,RAP1A Silent,Silent,Silent rs7536042 1 112245587 [T/C] NM_001010935,NM_002884,NM_001291896 RAP1A,RAP1A,RAP1A Silent,Silent,Silent variant.5606 1 112246098 [T/C] NM_001010935,NM_002884,NM_001291896 RAP1A,RAP1A,RAP1A EXON Synonymous_D108D,Synonymous_D108D,Synonymous_D108D variant.5607 1 112247054 [A/G] NM_001010935,NM_002884,NM_001291896 RAP1A,RAP1A,RAP1A EXON Nonsense_W138X,Nonsense_W138X,Nonsense_W138X exm84013 1 112247098 [A/G] NM_001010935,NM_002884,NM_001291896 RAP1A,RAP1A,RAP1A EXON Missense_N153S,Missense_N153S,Missense_N153S rs480578 1 112252461 [A/G] NM_001010935,NM_002884,NM_001291896 RAP1A,RAP1A,RAP1A Silent,Silent,Silent rs506991 1 112253212 [T/C] NM_001010935,NM_002884,NM_001291896 RAP1A,RAP1A,RAP1A Silent,Silent,Silent exm84023 1 112269729 [T/C] NM_198926,NM_019099 INKA2,INKA2 EXON Missense_S237N,Missense_S252N exm84025 1 112269757 [T/C] NM_198926,NM_019099 INKA2,INKA2 EXON Missense_G228S,Missense_G243S exm84031 1 112269828 [T/C] NM_198926,NM_019099 INKA2,INKA2 EXON Missense_R204Q,Missense_R219Q exm84032 1 112269837 [T/C] NM_198926,NM_019099 INKA2,INKA2 EXON Missense_R201H,Missense_R216H exm1698515 1 112269930 [T/C] NM_198926,NM_019099 INKA2,INKA2 EXON Missense_G170E,Missense_G185E exm84049 1 112270080 [T/C] NM_198926,NM_019099 INKA2,INKA2 EXON Missense_R120Q,Missense_R135Q exm84054 1 112270131 [A/G] NM_198926,NM_019099 INKA2,INKA2 EXON Missense_P103L,Missense_P118L exm84060 1 112270282 [T/C] NM_198926,NM_019099 INKA2,INKA2 EXON Missense_E53K,Missense_E68K rs12724266 1 112277449 [T/C] NM_198926,NM_019099 INKA2,INKA2 Silent,Silent rs3754026 1 112283838 [T/C] NM_198926,NR_038951,NR_038952 INKA2,INKA2-AS1,INKA2-AS1 Silent,Silent,Silent rs197394 1 112286309 [T/C] NM_198926,NR_038951,NR_038952 INKA2,INKA2-AS1,INKA2-AS1 Silent,Silent,Silent rs197381 1 112292778 [T/G] NM_198926,NR_125963 INKA2,LOC101928718 Silent,Silent exm84078 1 112298581 [T/C] NM_007204 DDX20 EXON Missense_A12V rs197392 1 112298582 [A/G] NM_007204 DDX20 EXON Synonymous_A12A exm84089 1 112298755 [T/C] NM_007204 DDX20 EXON Missense_S70L exm84100 1 112302035 [G/C] NM_007204 DDX20 EXON Missense_A137G rs538779 1 112302219 [A/G] NM_007204 DDX20 Silent exm84113 1 112303415 [C/G] NM_007204 DDX20 EXON Missense_K256N exm84120 1 112303720 [G/C] NM_007204 DDX20 EXON Missense_A312G indel.5614 1 112303726 [I/D] NM_007204 DDX20 EXON exm84122 1 112303861 [A/G] NM_007204 DDX20 EXON Missense_A326T exm84127 1 112304909 [A/G] NM_007204 DDX20 EXON Missense_M352V exm84137 1 112305560 [T/C] NM_007204 DDX20 EXON Missense_R415W exm84143 1 112305627 [T/C] NM_007204 DDX20 EXON Missense_P437L exm1698699 1 112308413 [A/G] NM_007204 DDX20 EXON Missense_K456R newrs61744783 1 112308569 [A/C] NM_007204 DDX20 EXON Nonsense_S508X exm84150 1 112308631 [A/G] NM_007204 DDX20 EXON Missense_K529E exm84155 1 112308722 [A/G] NM_007204 DDX20 EXON Missense_N559S exm84163 1 112308821 [A/C] NM_007204 DDX20 EXON Missense_A592D exm1698706 1 112308895 [A/C] NM_007204 DDX20 EXON Missense_T617P exm84165 1 112308953 [T/C] NM_007204 DDX20 EXON Missense_I636T exm84167 1 112308970 [T/G] NM_007204 DDX20 EXON Missense_V642L rs197413 1 112308972 [A/G] NM_007204 DDX20 EXON Synonymous_V642V indel.5617 1 112309013 [I/D] NM_007204 DDX20 EXON exm84171 1 112309023 [A/C] NM_007204 DDX20 EXON Nonsense_Y659X var_1_112309023 1 112309023 [A/C] NM_007204 DDX20 EXON Nonsense_Y659X exm84173 1 112309076 [T/C] NM_007204 DDX20 EXON Missense_S677F exm84174 1 112309109 [T/C] NM_007204 DDX20 EXON Missense_T688M exm84177 1 112309123 [A/C] NM_007204 DDX20 EXON Missense_R693S exm84182 1 112309184 [A/G] NM_007204 DDX20 EXON Missense_E713G exm84183 1 112309249 [T/C] NM_007204 DDX20 EXON Missense_R735W exm84187 1 112309330 [A/G] NM_007204 DDX20 EXON Missense_I762V rs85276 1 112309331 [T/C] NM_007204 DDX20 EXON Missense_I762T exm84188 1 112309331 [T/C] NM_007204 DDX20 EXON Missense_I762T exm84191 1 112309437 [T/G] NM_007204 DDX20 EXON Missense_W797C var_1_112309444 1 112309444 [T/C] NM_007204 DDX20 EXON Nonsense_Q800X indel.5620 1 112318834 [D/I] NM_172198,NM_004980 KCND3,KCND3 EXON exm84210 1 112319712 [A/G] NM_172198,NM_004980 KCND3,KCND3 EXON Missense_R549C,Missense_R568C exm84211 1 112319718 [A/G] NM_172198,NM_004980 KCND3,KCND3 EXON Missense_R547C,Missense_R566C exm84212 1 112319765 [T/C] NM_172198,NM_004980 KCND3,KCND3 EXON Missense_R531H,Missense_R550H exm84213 1 112319768 [T/C] NM_172198,NM_004980 KCND3,KCND3 EXON Missense_R530H,Missense_R549H exm84216 1 112319841 [T/C] NM_172198,NM_004980 KCND3,KCND3 EXON Missense_M506V,Missense_M525V rs535317 1 112320800 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent exm84222 1 112322852 [T/C] NM_172198,NM_004980 KCND3,KCND3 EXON Missense_T486A,Missense_T486A rs3738298 1 112329551 [T/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs590469 1 112333836 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs17028610 1 112349568 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs2788611 1 112356814 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent exm2265036 1 112362645 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs1471437 1 112364573 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs4839171 1 112369354 [A/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs11102342 1 112376121 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs475508 1 112385547 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent exm2264891 1 112385547 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs12044963 1 112392360 [T/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs652334 1 112403295 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs639622 1 112410433 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs11102350 1 112415201 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs1767283 1 112428953 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs17028976 1 112435325 [T/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs6697691 1 112436001 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs2798334 1 112437344 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs4838925 1 112440057 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs2034124 1 112451681 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs6682872 1 112462984 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs17029069 1 112464376 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs2000265 1 112474363 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs1936061 1 112475936 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs9429610 1 112478366 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs11578917 1 112488820 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs9429614 1 112489832 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs11102362 1 112496701 [T/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs6703437 1 112499034 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs7525808 1 112505519 [T/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs716954 1 112505892 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs3008538 1 112506564 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs17676657 1 112516275 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs1373286 1 112517914 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent exm84253 1 112524708 [T/C] NM_172198,NM_004980 KCND3,KCND3 EXON Missense_K214R,Missense_K214R rs7513088 1 112538239 [A/C] NR_145438 LINC01750 Silent exm-rs6681719 1 112538743 [A/G] NR_145438 LINC01750 Silent rs6681719 1 112538743 [A/G] NR_145438 LINC01750 Silent rs12562249 1 112555423 [A/G] rs7555530 1 112559150 [A/C] rs391886 1 112569959 [T/C] rs183205 1 112574475 [A/G] rs174892 1 112590049 [T/G] rs10857922 1 112591009 [T/G] rs269079 1 112597532 [A/G] rs4839203 1 112604622 [T/C] rs10776740 1 112610318 [A/G] rs269130 1 112612821 [T/C] rs269131 1 112613028 [A/G] rs385768 1 112626237 [T/C] rs269101 1 112628860 [T/C] rs269094 1 112639174 [T/C] rs269093 1 112639472 [A/C] rs682489 1 112659363 [A/G] rs457071 1 112668457 [A/G] rs2083429 1 112671286 [T/G] rs155672 1 112707866 [A/C] rs10857934 1 112709285 [T/G] rs11102398 1 112712150 [T/C] rs10745326 1 112712847 [T/C] rs4292960 1 112723031 [T/C] rs2196887 1 112727458 [T/G] rs1856390 1 112731101 [T/C] rs12138691 1 112736898 [A/G] rs2807945 1 112741759 [A/G] rs2788407 1 112761639 [A/G] rs6537730 1 112773825 [A/G] rs6537731 1 112773948 [A/G] rs12033004 1 112779668 [A/G] rs2998359 1 112780618 [T/C] rs7520740 1 112787396 [A/G] rs7527003 1 112789288 [A/G] rs11102441 1 112793307 [T/G] rs11102446 1 112804559 [T/C] rs2998334 1 112815101 [A/G] rs6662678 1 112816851 [A/G] rs17029953 1 112822460 [A/G] rs3121992 1 112829454 [A/G] rs17029987 1 112841001 [A/G] exm-rs7555668 1 112856570 [T/C] rs3128373 1 112858294 [T/C] rs3005774 1 112871321 [T/C] rs2995765 1 112886545 [T/C] rs1936050 1 112899446 [A/G] rs11804546 1 112901203 [A/G] rs6537736 1 112911324 [A/G] exm-rs2999471 1 112928036 [T/C] exm2263832 1 112930006 [A/C] rs2492501 1 112931256 [T/G] rs2488762 1 112939750 [T/C] NM_018704 CTTNBP2NL Silent rs2492506 1 112940944 [A/G] NM_018704 CTTNBP2NL Silent rs2492508 1 112941134 [A/G] NM_018704 CTTNBP2NL Silent rs11102472 1 112948319 [A/G] NM_018704 CTTNBP2NL Silent rs962402 1 112954994 [A/G] NM_018704 CTTNBP2NL Silent var_1_112958875 1 112958875 [A/G] NM_018704 CTTNBP2NL EXON Missense_E30K exm2263863 1 112973783 [A/C] NM_018704 CTTNBP2NL Silent rs2492530 1 112985270 [T/G] NM_018704 CTTNBP2NL Silent exm84299 1 112991675 [A/G] NM_018704 CTTNBP2NL EXON Missense_E71K exm84302 1 112991736 [A/G] NM_018704 CTTNBP2NL EXON Missense_K91R variant.5623 1 112991789 [T/C] NM_018704 CTTNBP2NL EXON Nonsense_R109X rs1759691 1 112991881 [T/C] NM_018704 CTTNBP2NL Silent exm84319 1 112998769 [A/G] NM_018704 CTTNBP2NL EXON Missense_E219K exm1700591 1 112998890 [A/G] NM_018704 CTTNBP2NL EXON Missense_R259Q exm84327 1 112999000 [A/G] NM_018704 CTTNBP2NL EXON Missense_V296M exm84329 1 112999030 [A/G] NM_018704 CTTNBP2NL EXON Missense_M306V exm84337 1 112999193 [C/G] NM_018704 CTTNBP2NL EXON Missense_R360T exm84346 1 112999339 [A/G] NM_018704 CTTNBP2NL EXON Missense_S409G exm84357 1 112999561 [T/C] NM_018704 CTTNBP2NL EXON Missense_P483S exm84367 1 112999882 [A/G] NM_018704 CTTNBP2NL EXON Missense_T590A exm84373 1 112999996 [A/G] NM_018704 CTTNBP2NL EXON Missense_G628S exm84378 1 113010178 [A/G] NM_001291880,NM_004185 WNT2B,WNT2B EXON Silent,Missense_V7M exm84380 1 113010195 [T/G] NM_001291880,NM_004185 WNT2B,WNT2B EXON Silent,Missense_I12M rs1620668 1 113023980 [A/G] NM_001291880,NM_004185 WNT2B,WNT2B Silent,Silent rs1777606 1 113028105 [A/G] NM_001291880,NM_004185 WNT2B,WNT2B Silent,Silent indel.5627 1 113033703 [D/I] NM_001291880,NM_004185 WNT2B,WNT2B EXON variant.5629 1 113033708 [A/G] NM_001291880,NM_004185 WNT2B,WNT2B Silent,Silent rs351354 1 113038795 [A/G] NM_001291880,NM_004185 WNT2B,WNT2B Silent,Silent rs351359 1 113040277 [A/G] NM_001291880,NM_004185 WNT2B,WNT2B Silent,Silent rs351360 1 113040421 [T/C] NM_001291880,NM_004185 WNT2B,WNT2B Silent,Silent rs7516532 1 113054973 [T/C] NM_001291880,NM_004185,NM_024494 WNT2B,WNT2B,WNT2B Silent,Silent,Silent exm84398 1 113057602 [A/G] NM_001291880,NM_004185,NM_024494 WNT2B,WNT2B,WNT2B EXON Missense_G5S,Missense_G78S,Missense_G97S exm84400 1 113057615 [A/G] NM_001291880,NM_004185,NM_024494 WNT2B,WNT2B,WNT2B EXON Missense_R9Q,Missense_R82Q,Missense_R101Q exm84404 1 113057708 [T/C] NM_001291880,NM_004185,NM_024494 WNT2B,WNT2B,WNT2B EXON Missense_M40T,Missense_M113T,Missense_M132T exm84417 1 113058909 [A/C] NM_001291880,NM_004185,NM_024494 WNT2B,WNT2B,WNT2B EXON Missense_D92A,Missense_D165A,Missense_D184A exm84429 1 113059924 [A/G] NM_001291880,NM_004185,NM_024494 WNT2B,WNT2B,WNT2B EXON Missense_R196H,Missense_R269H,Missense_R288H rs3790611 1 113067792 [A/G] NM_138727,NM_017744,NM_138728,NM_001308264 ST7L,ST7L,ST7L,ST7L EXON Silent,Silent,Silent,Silent exm84445 1 113068651 [T/C] NM_138727,NM_017744,NM_138728,NM_001308264 ST7L,ST7L,ST7L,ST7L EXON Missense_G554D,Missense_G571D,Missense_G540D,Missense_G388D exm1700857 1 113068652 [A/C] NM_138727,NM_017744,NM_138728,NM_001308264 ST7L,ST7L,ST7L,ST7L EXON Missense_G554C,Missense_G571C,Missense_G540C,Missense_G388C exm84446 1 113068676 [A/G] NM_138727,NM_017744,NM_138728,NM_001308264 ST7L,ST7L,ST7L,ST7L EXON Nonsense_Q546X,Nonsense_Q563X,Nonsense_Q532X,Nonsense_Q380X newrs75947674 1 113068676 [A/G] NM_138727,NM_017744,NM_138728,NM_001308264 ST7L,ST7L,ST7L,ST7L EXON Nonsense_Q546X,Nonsense_Q563X,Nonsense_Q532X,Nonsense_Q380X rs4838959 1 113085721 [A/C] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L Silent,Silent,Silent,Silent,Silent exm84454 1 113093246 [A/G] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_T472M,Missense_T489M,Silent,Missense_T306M,Missense_T489M exm1700905 1 113093294 [A/G] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_P456L,Missense_P473L,Silent,Missense_P290L,Missense_P473L exm84461 1 113098534 [T/C] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_R434Q,Missense_R451Q,Missense_R451Q,Missense_R268Q,Missense_R451Q exm84467 1 113098598 [T/C] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_I413V,Missense_I430V,Missense_I430V,Missense_I247V,Missense_I430V exm84473 1 113119612 [A/G] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_P397L,Missense_P414L,Missense_P414L,Missense_P231L,Missense_P414L variant.5633 1 113120962 [T/C] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L Silent,Silent,Silent,Silent,Silent exm1700924 1 113120982 [A/C] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_R359M,Missense_R376M,Missense_R376M,Missense_R193M,Missense_R376M rs7554916 1 113123734 [A/C] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L Silent,Silent,Silent,Silent,Silent exm84482 1 113125080 [T/C] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_V274I,Missense_V291I,Missense_V291I,Missense_V108I,Missense_V291I exm84489 1 113126734 [T/C] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_Y222C,Missense_Y239C,Missense_Y239C,Missense_Y56C,Missense_Y239C rs6671645 1 113129128 [A/G] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L Silent,Silent,Silent,Silent,Silent exm84492 1 113134192 [A/G] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_P202L,Missense_P219L,Missense_P219L,Missense_P36L,Missense_P219L rs12049572 1 113140583 [T/C] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L Silent,Silent,Silent,Silent,Silent exm84495 1 113140594 [T/C] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Synonymous_T190T,Synonymous_T207T,Synonymous_T207T,Synonymous_T24T,Synonymous_T207T exm84500 1 113143420 [T/C] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_R151G,Missense_R168G,Missense_R168G,Silent,Missense_R168G exm84501 1 113143441 [A/G] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_L144F,Missense_L161F,Missense_L161F,Silent,Missense_L161F indel.5634 1 113153575 [I/D] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON exm84509 1 113153580 [T/C] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_E95K,Missense_E112K,Missense_E112K,Silent,Missense_E112K exm84510 1 113153597 [T/C] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_H89R,Missense_H106R,Missense_H106R,Silent,Missense_H106R exm84511 1 113153619 [G/C] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_E82Q,Missense_E99Q,Missense_E99Q,Silent,Missense_E99Q exm84513 1 113159464 [A/T] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_T70S,Missense_T87S,Missense_T87S,Silent,Missense_T87S exm84517 1 113161534 [A/C] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_A68S,Missense_A68S,Missense_A68S,Silent,Missense_A68S exm84523 1 113161692 [A/G] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_A15V,Missense_A15V,Missense_A15V,Silent,Missense_A15V exm84525 1 113161699 [T/C] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_V13I,Missense_V13I,Missense_V13I,Silent,Missense_V13I exm84526 1 113161725 [T/C] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_R4H,Missense_R4H,Missense_R4H,Silent,Missense_R4H exm84527 1 113161727 [G/C] NM_138727,NM_017744,NM_138728,NM_001308264,NM_138729 ST7L,ST7L,ST7L,ST7L,ST7L EXON Missense_D3E,Missense_D3E,Missense_D3E,Silent,Missense_D3E exm84535 1 113162482 [T/G] NM_006135 CAPZA1 EXON Missense_D6Y exm84538 1 113162492 [T/C] NM_006135 CAPZA1 EXON Missense_S9L exm84539 1 113162494 [A/G] NM_006135 CAPZA1 EXON Missense_D10N exm84542 1 113162500 [A/G] NM_006135 CAPZA1 EXON Missense_E12K exm-rs17030613 1 113190807 [A/C] NM_006135 CAPZA1 Silent exm84546 1 113192067 [A/G] NM_006135 CAPZA1 EXON Missense_N44S exm84547 1 113192091 [A/G] NM_006135 CAPZA1 EXON Missense_H52R exm84575 1 113209743 [A/T] NM_006135 CAPZA1 EXON Missense_D211E exm84576 1 113209765 [A/T] NM_006135 CAPZA1 EXON Missense_S219T exm84577 1 113212184 [A/G] NM_006135 CAPZA1 EXON Missense_K226R rs2932538 1 113216543 [A/G] exm84604 1 113232218 [C/G] NM_020963,NM_001286072,NM_001130079,NM_001321324 MOV10,MOV10,MOV10,MOV10 EXON Missense_P175A,Missense_P119A,Missense_P175A,Missense_P175A exm84609 1 113232587 [A/G] NM_020963,NM_001286072,NM_001130079,NM_001321324 MOV10,MOV10,MOV10,MOV10 EXON Missense_A235T,Missense_A179T,Missense_A235T,Missense_A235T exm84612 1 113232605 [A/G] NM_020963,NM_001286072,NM_001130079,NM_001321324 MOV10,MOV10,MOV10,MOV10 EXON Missense_V241I,Missense_V185I,Missense_V241I,Missense_V241I exm84622 1 113234345 [T/C] NM_020963,NM_001286072,NM_001130079,NM_001321324 MOV10,MOV10,MOV10,MOV10 EXON Missense_R299C,Missense_R243C,Missense_R299C,Missense_R299C exm84625 1 113234376 [A/G] NM_020963,NM_001286072,NM_001130079,NM_001321324 MOV10,MOV10,MOV10,MOV10 EXON Missense_Q309R,Missense_Q253R,Missense_Q309R,Missense_Q309R rs3748656 1 113236681 [T/C] NM_020963,NM_001286072,NM_001130079,NM_001321324 MOV10,MOV10,MOV10,MOV10 EXON Synonymous_G394G,Synonymous_G338G,Synonymous_G394G,Synonymous_G394G exm84648 1 113237212 [T/C] NM_020963,NM_001286072,NM_001130079,NM_001321324 MOV10,MOV10,MOV10,MOV10 EXON Missense_P478L,Missense_P422L,Missense_P478L,Missense_P478L exm84651 1 113237371 [A/G] NM_020963,NM_001286072,NM_001130079,NM_001321324 MOV10,MOV10,MOV10,MOV10 EXON Synonymous_K491K,Synonymous_K435K,Synonymous_K491K,Synonymous_K491K exm84674 1 113239422 [A/G] NM_020963,NM_001286072,NM_001130079,NM_001321324 MOV10,MOV10,MOV10,MOV10 EXON Missense_D718N,Missense_D662N,Missense_D718N,Missense_D718N exm84675 1 113239459 [A/G] NM_020963,NM_001286072,NM_001130079,NM_001321324 MOV10,MOV10,MOV10,MOV10 EXON Missense_R730H,Missense_R674H,Missense_R730H,Missense_R730H exm84683 1 113240711 [A/G] NM_020963,NM_001286072,NM_001130079,NM_001321324 MOV10,MOV10,MOV10,MOV10 EXON Missense_R765H,Missense_R709H,Missense_R765H,Missense_R765H indel.5644 1 113242887 [I/D] NM_020963,NM_001286072,NM_001130079,NM_001321324 MOV10,MOV10,MOV10,MOV10 EXON exm84708 1 113243071 [A/G] NM_020963,NM_001286072,NM_001130079,NM_001321324 MOV10,MOV10,MOV10,MOV10 EXON Missense_R985Q,Missense_R929Q,Missense_R985Q,Missense_R985Q exm84713 1 113244187 [T/C] NM_001042678,NM_001042679,NM_175744 RHOC,RHOC,RHOC EXON Missense_R186H,Missense_R186H,Missense_R186H exm84718 1 113244301 [A/G] NM_001042678,NM_001042679,NM_175744 RHOC,RHOC,RHOC EXON Missense_A148V,Missense_A148V,Missense_A148V exm1701107 1 113246274 [T/C] NM_001042678,NM_001042679,NM_175744 RHOC,RHOC,RHOC EXON Missense_G50S,Missense_G50S,Missense_G50S indel.5648 1 113246424 [D/I] NM_001042678,NM_001042679,NM_175744 RHOC,RHOC,RHOC EXON variant.5649 1 113246429 [A/C] NM_001042678,NM_001042679,NM_175744 RHOC,RHOC,RHOC Silent,Silent,Silent rs12144044 1 113248791 [A/C] NM_001042678,NM_001042679,NM_175744 RHOC,RHOC,RHOC Silent,Silent,Silent exm84741 1 113252811 [C/G] NM_005167 PPM1J EXON Missense_L498V exm84742 1 113252841 [T/C] NM_005167 PPM1J EXON Missense_G488R exm84745 1 113252882 [T/C] NM_005167 PPM1J EXON Missense_R474Q exm1701117 1 113252927 [G/C] NM_005167 PPM1J EXON Missense_T459R exm84748 1 113253207 [A/C] NM_005167 PPM1J EXON Nonsense_Y415X exm84750 1 113253229 [T/C] NM_005167 PPM1J EXON Missense_R408Q newrs147305772 1 113253230 [A/G] NM_005167 PPM1J EXON Nonsense_R408X exm84762 1 113253638 [T/C] NM_005167 PPM1J EXON Missense_G368S exm84779 1 113254648 [A/G] NM_005167 PPM1J EXON Missense_I291T exm2268739 1 113255212 [T/G] NM_005167 PPM1J Silent exm84786 1 113255389 [T/C] NM_005167 PPM1J EXON Missense_V236I exm2230816 1 113255436 [T/C] NM_005167 PPM1J EXON Nonsense_W220X exm84788 1 113255456 [A/C] NM_005167 PPM1J EXON Missense_L213F exm84805 1 113257761 [T/C] NM_005167 PPM1J EXON Missense_A55T exm84806 1 113257762 [T/G] NM_005167 PPM1J EXON Missense_S54R rs4450019 1 113263711 [T/C] NM_182759,NM_001004440 FAM19A3,FAM19A3 Silent,Silent exm84808 1 113264856 [A/G] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Missense_M1V,Missense_M1V exm1701145 1 113264896 [A/G] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Nonsense_W14X,Nonsense_W14X exm84812 1 113264968 [T/C] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Missense_T38I,Missense_T38I exm84814 1 113265646 [A/C] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Missense_Q42K,Missense_Q42K exm84822 1 113266594 [A/G] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Silent,Missense_R98H exm84829 1 113266708 [A/G] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Synonymous_P113P,Missense_R136Q exm84831 1 113266716 [T/C] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Missense_S116L,Missense_R139W exm84833 1 113266737 [A/G] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Missense_G123E,Missense_D146N exm84834 1 113266753 [G/C] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Synonymous_T128T,Missense_P151R rs11102524 1 113268225 [T/C] NM_182759,NM_001004440 FAM19A3,FAM19A3 Silent,Silent variant.5673 1 113269257 [T/C] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Nonsense_R133X,Synonymous_H155H exm84840 1 113269294 [T/C] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Silent,Missense_L168F rs6537754 1 113278651 [T/C] rs12402272 1 113284079 [T/C] rs4534375 1 113286780 [T/C] rs7553091 1 113293449 [A/G] exm-rs11590090 1 113313563 [A/C] rs4378202 1 113331134 [T/C] rs4385708 1 113331258 [T/C] rs6681499 1 113336905 [A/C] rs10857978 1 113338649 [T/C] rs4838967 1 113345279 [T/G] rs6688787 1 113376527 [A/G] NR_103746 LINC01356 Silent rs7539948 1 113384015 [A/G] NR_103746 LINC01356 Silent rs7527283 1 113390844 [A/G] NR_103746 LINC01356 Silent rs12090523 1 113391029 [T/G] NR_103746 LINC01356 Silent rs6694556 1 113411279 [A/G] rs2996294 1 113416122 [A/C] rs11102559 1 113426308 [T/C] rs1539624 1 113431786 [A/G] rs9429503 1 113439588 [T/C] rs12037621 1 113449627 [A/G] rs9429505 1 113454571 [A/G] NM_001166496,NM_003051 SLC16A1,SLC16A1 EXON Silent,Silent rs11811205 1 113454637 [G/C] NM_001166496,NM_003051 SLC16A1,SLC16A1 EXON Silent,Silent kgp25201193 1 113454889 [T/C] NM_001166496,NM_003051 SLC16A1,SLC16A1 EXON Silent,Silent kgp6869268 1 113455099 [A/G] NM_001166496,NM_003051 SLC16A1,SLC16A1 EXON Silent,Silent kgp25136468 1 113455243 [T/C] NM_001166496,NM_003051 SLC16A1,SLC16A1 EXON Silent,Silent exm84845 1 113456546 [T/A] NM_001166496,NM_003051 SLC16A1,SLC16A1 EXON Missense_D490E,Missense_D490E exm84847 1 113456602 [T/C] NM_001166496,NM_003051 SLC16A1,SLC16A1 EXON Missense_G472R,Missense_G472R exm84857 1 113459911 [T/C] NM_001166496,NM_003051 SLC16A1,SLC16A1 EXON Missense_V373I,Missense_V373I exm84860 1 113459965 [T/C] NM_001166496,NM_003051 SLC16A1,SLC16A1 EXON Missense_G355R,Missense_G355R kgp15400962 1 113460026 [T/C] NM_001166496,NM_003051 SLC16A1,SLC16A1 EXON Synonymous_A334A,Synonymous_A334A exm84864 1 113460049 [A/G] NM_001166496,NM_003051 SLC16A1,SLC16A1 EXON Missense_P327S,Missense_P327S kgp15732350 1 113460055 [T/C] NM_001166496,NM_003051 SLC16A1,SLC16A1 EXON Missense_I325V,Missense_I325V exm84865 1 113460055 [T/C] NM_001166496,NM_003051 SLC16A1,SLC16A1 EXON Missense_I325V,Missense_I325V exm84875 1 113460406 [T/C] NM_001166496,NM_003051 SLC16A1,SLC16A1 EXON Missense_D208N,Missense_D208N exm84878 1 113460424 [A/G] NM_001166496,NM_003051 SLC16A1,SLC16A1 EXON Missense_P202S,Missense_P202S exm84890 1 113464670 [A/C] NM_001166496,NM_003051 SLC16A1,SLC16A1 EXON Missense_I101M,Missense_I101M kgp15764545 1 113466486 [T/C] NM_001166496,NM_003051,NR_002796 SLC16A1,SLC16A1,AKR7A2P1 EXON Silent,Silent,Silent kgp25238847 1 113466571 [A/G] NM_001166496,NM_003051,NR_002796 SLC16A1,SLC16A1,AKR7A2P1 EXON Silent,Silent,Silent rs7512840 1 113489921 [A/C] NM_001166496,NM_003051 SLC16A1,SLC16A1 Silent,Silent rs4301628 1 113492862 [T/C] NM_001166496,NM_003051 SLC16A1,SLC16A1 Silent,Silent rs6537765 1 113493337 [A/G] NM_001166496,NM_003051 SLC16A1,SLC16A1 Silent,Silent rs4839272 1 113496790 [A/G] NM_001166496,NM_003051 SLC16A1,SLC16A1 Silent,Silent kgp6470243 1 113498070 [G/C] NM_001166496,NM_003051 SLC16A1,SLC16A1 EXON Silent,Silent kgp2705500 1 113498283 [A/C] NM_001166496,NM_003051 SLC16A1,SLC16A1 EXON Silent,Silent rs4839273 1 113502552 [A/C] NR_103744,NR_103743 SLC16A1-AS1,SLC16A1-AS1 Silent,Silent rs2798691 1 113579103 [T/C] NR_103777 LOC100996251 Silent rs1216766 1 113597564 [A/G] NR_103777 LOC100996251 Silent rs2798686 1 113601445 [A/C] NR_103777 LOC100996251 Silent exm1701651 1 113616048 [C/G] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_G7A,Silent var_1_113616059 1 113616059 [T/G] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Nonsense_E11X,Silent variant.5678 1 113633998 [T/C] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Nonsense_Q100X,Silent indel.5679 1 113636098 [I/D] NM_014813,NM_001312686 LRIG2,LRIG2 EXON exm84917 1 113636134 [T/A] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_I155L,Missense_I52L rs6688685 1 113636160 [A/G] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Synonymous_S163S,Synonymous_S60S exm84928 1 113637055 [A/G] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_M204V,Missense_M101V exm84929 1 113637071 [G/C] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_P209R,Missense_P106R exm84940 1 113638635 [A/G] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_E315K,Missense_E212K exm84961 1 113650307 [A/G] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_V469I,Missense_V366I exm84962 1 113650373 [T/G] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_V491F,Missense_V388F exm84973 1 113653034 [T/C] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_R550C,Missense_R447C exm84974 1 113653035 [A/G] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_R550H,Missense_R447H exm84976 1 113653074 [G/C] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_S563T,Missense_S460T exm84977 1 113653082 [T/C] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_H566Y,Missense_H463Y indel.5684 1 113655198 [D/I] NM_014813,NM_001312686 LRIG2,LRIG2 EXON exm2273678 1 113655259 [A/G] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_V653I,Missense_V550I exm1701686 1 113655293 [A/G] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_N664S,Missense_N561S rs1216793 1 113657092 [A/C] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Synonymous_T708T,Synonymous_T605T exm84992 1 113657233 [T/G] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_D755E,Missense_D652E exm84993 1 113657262 [T/C] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_T765I,Missense_T662I exm84997 1 113657385 [T/C] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_V806A,Missense_V703A exm84999 1 113657466 [A/G] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_R833K,Missense_R730K variant.5687 1 113657474 [T/G] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Nonsense_E836X,Nonsense_E733X indel.5688 1 113658909 [I/D] NM_014813,NM_001312686 LRIG2,LRIG2 EXON exm85004 1 113658932 [T/A] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_I852F,Missense_I749F exm85005 1 113658942 [A/G] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_Y855C,Missense_Y752C variant.5689 1 113659010 [T/C] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Nonsense_Q878X,Nonsense_Q775X exm85009 1 113659023 [T/C] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_P882L,Missense_P779L exm85015 1 113661918 [T/C] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_T915I,Missense_T812I variant.5690 1 113661920 [T/C] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Nonsense_R916X,Nonsense_R813X exm85024 1 113662142 [A/G] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_G990S,Missense_G887S exm85030 1 113666613 [A/G] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_G1030R,Missense_G927R exm85032 1 113666714 [C/G] NM_014813,NM_001312686 LRIG2,LRIG2 EXON Missense_E1063D,Missense_E960D kgp1557674 1 113667837 [T/G] rs10494150 1 113668344 [A/G] rs946218 1 113721397 [A/G] rs1216878 1 113728629 [A/G] rs7526767 1 113759903 [T/C] rs11102602 1 113770426 [T/C] rs12129538 1 113771607 [A/C] rs6696679 1 113772733 [T/G] rs11102603 1 113784170 [A/G] rs1886503 1 113789136 [T/C] rs773618 1 113791338 [A/G] rs773573 1 113818120 [A/G] exm2268740 1 113822284 [T/C] exm-rs773564 1 113824297 [T/C] rs773564 1 113824297 [T/C] rs773554 1 113830085 [T/C] rs699670 1 113834428 [A/G] rs773586 1 113841736 [A/G] rs12740908 1 113843501 [A/C] rs4839306 1 113849470 [T/C] rs1342653 1 113865048 [T/C] rs4839312 1 113876419 [T/C] rs10494155 1 113890470 [T/C] rs1006610 1 113898769 [T/C] rs6664279 1 113914023 [A/C] rs10218568 1 113925870 [A/G] 1KG_1_113933669 1 113933669 [I/D] NM_001142782,NM_152900 MAGI3,MAGI3 EXON exm85043 1 113933675 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_K7R,Missense_K7R rs1342650 1 113934304 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent rs12023641 1 113951107 [A/C] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent rs11102627 1 113959886 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent rs1936930 1 113971051 [T/C] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent kgp1883481 1 113972547 [T/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent rs2153977 1 114080071 [T/C] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent rs7554019 1 114085723 [T/C] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent variant.5692 1 114092211 [T/C] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Nonsense_Q131X,Nonsense_Q131X variant.5693 1 114092254 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent rs1343630 1 114105855 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent exm85087 1 114128161 [G/C] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_L236V,Missense_L236V rs1113523 1 114129474 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent exm85095 1 114133195 [T/C] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_Y285H,Missense_Y285H rs1235000 1 114134025 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent rs4838994 1 114151606 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent exm85103 1 114165485 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_R410Q,Missense_R410Q rs6669008 1 114166561 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent exm85115 1 114184827 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_G552D,Missense_G552D rs1777237 1 114187371 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent exm85136 1 114189263 [A/T] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_K718N,Missense_K718N variant.5696 1 114189265 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent exm85140 1 114193691 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_R768H,Missense_R768H exm85148 1 114196521 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_R837Q,Missense_R837Q exm85151 1 114196575 [T/A] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_Q855L,Missense_Q855L exm85167 1 114214380 [T/C] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_T947I,Missense_T947I rs17274634 1 114217527 [T/C] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent rs7522138 1 114217705 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent exm85185 1 114225614 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_E1142K,Silent indel.5697 1 114225645 [D/I] NM_001142782,NM_152900 MAGI3,MAGI3 EXON indel.5698 1 114225649 [I/D] NM_001142782,NM_152900 MAGI3,MAGI3 EXON variant.5700 1 114226027 [A/C] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Nonsense_C1279X,Silent exm85194 1 114226143 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_G1318D,Silent indel.5701 1 114226505 [I/D] NM_001142782,NM_152900 MAGI3,MAGI3 EXON exm85203 1 114226527 [T/C] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_P1446L,Silent variant.5705 1 114243411 [A/G] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1111695 1 114243899 [A/C] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.5707 1 114246690 [I/D] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON exm85227 1 114246790 [T/C] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1701823 1 114247301 [T/C] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON Missense_R597H,Silent,Missense_R597H,Silent,Missense_R597H,Missense_R311H,Missense_R555H,Missense_R555H,Silent,Missense_R597H,Silent,Missense_R555H,Missense_R597H,Missense_R597H,Silent,Missense_R597H exm85235 1 114248546 [A/G] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON Missense_F546S,Silent,Missense_F546S,Silent,Missense_F546S,Missense_F260S,Missense_F504S,Missense_F504S,Silent,Missense_F546S,Silent,Missense_F504S,Missense_F546S,Missense_F546S,Silent,Missense_F546S,Missense_F546S,Missense_F546S,Missense_F504S indel.5712 1 114248589 [D/I] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON indel.5713 1 114248636 [I/D] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON exm85245 1 114248691 [A/G] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON Missense_R498C,Silent,Missense_R498C,Silent,Missense_R498C,Missense_R212C,Missense_R456C,Missense_R456C,Silent,Missense_R498C,Silent,Missense_R456C,Missense_R498C,Missense_R498C,Silent,Missense_R498C,Missense_R498C,Missense_R498C,Missense_R456C exm85248 1 114248781 [A/T] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON Missense_N468Y,Silent,Missense_N468Y,Silent,Missense_N468Y,Missense_N182Y,Missense_N426Y,Missense_N426Y,Silent,Missense_N468Y,Silent,Missense_N426Y,Missense_N468Y,Missense_N468Y,Silent,Missense_N468Y,Missense_N468Y,Missense_N468Y,Missense_N426Y newrs145541451 1 114249302 [A/G] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON Nonsense_R438X,Silent,Nonsense_R438X,Silent,Nonsense_R438X,Nonsense_R152X,Nonsense_R396X,Nonsense_R396X,Silent,Nonsense_R438X,Silent,Nonsense_R396X,Nonsense_R438X,Nonsense_R438X,Silent,Nonsense_R438X,Nonsense_R438X,Nonsense_R438X,Nonsense_R396X var_1_114252871 1 114252871 [T/C] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm85259 1 114252968 [A/G] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON Missense_R393W,Silent,Missense_R393W,Silent,Missense_R393W,Missense_R107W,Missense_R351W,Missense_R351W,Silent,Missense_R393W,Silent,Missense_R351W,Missense_R393W,Missense_R393W,Silent,Missense_R393W,Missense_R393W,Missense_R393W,Missense_R351W variant.5718 1 114253067 [A/G] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON Nonsense_R360X,Silent,Nonsense_R360X,Silent,Nonsense_R360X,Nonsense_R74X,Nonsense_R318X,Nonsense_R318X,Silent,Nonsense_R360X,Silent,Nonsense_R318X,Nonsense_R360X,Nonsense_R360X,Silent,Nonsense_R360X,Nonsense_R360X,Nonsense_R360X,Nonsense_R318X exm85267 1 114254442 [T/C] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON Missense_T325A,Silent,Missense_T325A,Silent,Missense_T325A,Missense_T39A,Missense_T283A,Missense_T283A,Silent,Missense_T325A,Silent,Missense_T283A,Missense_T325A,Missense_T325A,Silent,Missense_T325A,Missense_T325A,Missense_T325A,Missense_T283A exm85271 1 114254650 [A/G] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON Missense_L290S,Silent,Missense_L290S,Silent,Missense_L290S,Missense_L4S,Missense_L248S,Missense_L248S,Silent,Missense_L290S,Silent,Missense_L248S,Missense_L290S,Missense_L290S,Silent,Missense_L290S,Missense_L290S,Missense_L290S,Missense_L248S indel.5719 1 114255942 [I/D] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON variant.5720 1 114255969 [A/G] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON Nonsense_R239X,Silent,Nonsense_R239X,Silent,Nonsense_R239X,Silent,Nonsense_R197X,Nonsense_R197X,Silent,Nonsense_R239X,Silent,Nonsense_R197X,Nonsense_R239X,Nonsense_R239X,Silent,Nonsense_R239X,Nonsense_R239X,Nonsense_R239X,Nonsense_R197X exm85279 1 114255975 [T/G] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON Missense_Q237K,Silent,Missense_Q237K,Silent,Missense_Q237K,Silent,Missense_Q195K,Missense_Q195K,Silent,Missense_Q237K,Silent,Missense_Q195K,Missense_Q237K,Missense_Q237K,Silent,Missense_Q237K,Missense_Q237K,Missense_Q237K,Missense_Q195K exm85288 1 114267508 [A/G] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON Nonsense_R166X,Silent,Nonsense_R166X,Silent,Nonsense_R166X,Silent,Nonsense_R124X,Nonsense_R124X,Silent,Nonsense_R166X,Silent,Nonsense_R124X,Nonsense_R166X,Nonsense_R166X,Silent,Nonsense_R166X,Nonsense_R166X,Nonsense_R166X,Nonsense_R124X indel.5721 1 114269040 [I/D] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON indel.5723 1 114269081 [I/D] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON exm85293 1 114269154 [A/C] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON Missense_I125R,Silent,Missense_I125R,Silent,Missense_I125R,Silent,Missense_I83R,Missense_I83R,Silent,Missense_I125R,Silent,Missense_I83R,Missense_I125R,Missense_I125R,Silent,Missense_I125R,Missense_I125R,Missense_I125R,Missense_I83R exm85294 1 114269155 [T/C] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON Missense_I125V,Silent,Missense_I125V,Silent,Missense_I125V,Silent,Missense_I83V,Missense_I83V,Silent,Missense_I125V,Silent,Missense_I83V,Missense_I125V,Missense_I125V,Silent,Missense_I125V,Missense_I125V,Missense_I125V,Missense_I83V exm85300 1 114280797 [T/C] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON Missense_N89S,Silent,Missense_N89S,Silent,Missense_N89S,Silent,Missense_N47S,Missense_N47S,Silent,Missense_N89S,Silent,Missense_N47S,Missense_N89S,Missense_N89S,Silent,Missense_N89S,Missense_N89S,Missense_N89S,Missense_N47S exm85303 1 114280839 [T/C] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON Missense_R75Q,Silent,Missense_R75Q,Silent,Missense_R75Q,Silent,Missense_R33Q,Missense_R33Q,Silent,Missense_R75Q,Silent,Missense_R33Q,Missense_R75Q,Missense_R75Q,Silent,Missense_R75Q,Missense_R75Q,Missense_R75Q,Missense_R33Q rs10858017 1 114287902 [A/G] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2359167 1 114299516 [A/G] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm85314 1 114301286 [T/C] NM_006608,NR_136566,NM_001323043,NR_136565,NM_001323041,NM_001323046,NM_001323045,NM_001323044,NR_136567,NM_001323042,NR_136564,NM_001323050,NM_001323049,NM_001323048,NR_136568,NM_001323047,NM_001323052,NM_001323053,NM_001323051 PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1,PHTF1 EXON Missense_K14E,Silent,Missense_K14E,Silent,Missense_K14E,Silent,Silent,Silent,Silent,Missense_K14E,Silent,Silent,Missense_K14E,Missense_K14E,Silent,Missense_K14E,Missense_K14E,Missense_K14E,Silent exm-rs6679677 1 114303808 [A/C] exm85322 1 114308772 [A/G] NR_130896,NM_018364 RSBN1,RSBN1 EXON Silent,Missense_C747R rs2040041 1 114312623 [T/C] NR_130896,NM_018364 RSBN1,RSBN1 Silent,Silent rs3789600 1 114334222 [T/C] NR_130896,NM_018364 RSBN1,RSBN1 Silent,Silent exm85349 1 114340502 [T/C] NR_130896,NM_018364 RSBN1,RSBN1 EXON Silent,Missense_R287H exm1701905 1 114354433 [T/C] NR_130896,NM_018364 RSBN1,RSBN1 EXON Silent,Missense_D201G rs3195954 1 114354654 [T/C] NR_130896,NM_018364 RSBN1,RSBN1 EXON Silent,Synonymous_P127P exm2249696 1 114354942 [T/G] NR_130896,NM_018364 RSBN1,RSBN1 EXON Silent,Synonymous_R31R exm85395 1 114362278 [T/G] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 Silent,Silent,Silent,Silent,Silent rs1217389 1 114365752 [T/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 Silent,Silent,Silent,Silent,Silent exm85396 1 114367763 [T/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 Silent,Silent,Silent,Silent,Silent exm85399 1 114367793 [T/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_S727N,Missense_S696N,Missense_S723N,Missense_S751N exm85400 1 114372214 [G/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_K726N,Missense_K695N,Missense_K722N,Missense_K750N exm85401 1 114372222 [T/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_R724G,Missense_R693G,Missense_R720G,Missense_R748G variant.5731 1 114372570 [A/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 Silent,Silent,Silent,Silent,Silent indel.5732 1 114372599 [I/D] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON exm85413 1 114375747 [T/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_R656Q,Missense_R625Q,Missense_R652Q,Missense_R680Q exm85421 1 114377035 [A/G] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_S617P,Missense_S586P,Missense_S641P,Missense_S641P exm85425 1 114377561 [C/G] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_P598R,Missense_P567R,Missense_P622R,Missense_P622R exm85426 1 114377567 [T/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Nonsense_W596X,Nonsense_W565X,Nonsense_W620X,Nonsense_W620X rs2476601 1 114377568 [A/G] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_W596R,Missense_W565R,Missense_W620R,Missense_W620R exm85427 1 114377568 [A/G] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_W596R,Missense_W565R,Missense_W620R,Missense_W620R exm85429 1 114377610 [A/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_A582S,Missense_A551S,Missense_A606S,Missense_A606S exm85434 1 114380280 [T/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_H557R,Missense_H526R,Missense_H581R,Missense_H581R exm85438 1 114380395 [T/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_S519G,Missense_S488G,Missense_S543G,Missense_S543G exm85439 1 114380439 [T/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_Y504C,Missense_Y473C,Missense_Y528C,Missense_Y528C exm85442 1 114380493 [T/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_R486H,Missense_R455H,Missense_R510H,Missense_R510H exm85449 1 114380656 [G/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_Q432E,Missense_Q401E,Missense_Q456E,Missense_Q456E exm85453 1 114380886 [T/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_D355G,Missense_D324G,Missense_D379G,Missense_D379G exm85455 1 114380914 [T/G] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_H346N,Missense_H315N,Missense_H370N,Missense_H370N exm85457 1 114380944 [T/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_E336K,Missense_E305K,Missense_E360K,Missense_E360K exm85460 1 114381181 [A/G] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_P302L,Missense_P271L,Missense_P326L,Missense_P326L exm2249697 1 114391219 [T/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Synonymous_V262V,Silent,Synonymous_V286V,Synonymous_V286V exm85468 1 114394689 [T/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_R239Q,Silent,Missense_R263Q,Missense_R263Q exm85469 1 114394690 [A/G] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Missense_R239W,Silent,Missense_R263W,Missense_R263W exm85488 1 114399229 [A/G] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22 EXON Silent,Silent,Missense_R141C,Missense_R141C,Missense_R141C newrs140976677 1 114401115 [T/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967,NR_037864 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22,AP4B1-AS1 EXON Silent,Nonsense_W118X,Nonsense_W118X,Nonsense_W118X,Nonsense_W118X,Silent exm85493 1 114401662 [T/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967,NR_037864 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22,AP4B1-AS1 EXON Silent,Missense_D79N,Missense_D79N,Missense_D79N,Missense_D79N,Silent exm85500 1 114414169 [T/C] NR_125965,NM_001308297,NM_012411,NM_001193431,NM_015967,NR_037864 AP4B1-AS1,PTPN22,PTPN22,PTPN22,PTPN22,AP4B1-AS1 EXON Silent,Missense_N26S,Missense_N26S,Missense_N26S,Missense_N26S,Silent exm2259731 1 114423653 [T/C] NR_125965,NR_037864,NM_001010922 AP4B1-AS1,AP4B1-AS1,BCL2L15 EXON Silent,Silent,Silent var_1_114423727 1 114423727 [A/G] NR_125965,NR_037864,NM_001010922 AP4B1-AS1,AP4B1-AS1,BCL2L15 EXON Silent,Silent,Silent exm85514 1 114424562 [T/C] NR_125965,NR_037864,NM_001010922 AP4B1-AS1,AP4B1-AS1,BCL2L15 EXON Silent,Silent,Missense_D103N exm85515 1 114424601 [T/C] NR_125965,NR_037864,NM_001010922 AP4B1-AS1,AP4B1-AS1,BCL2L15 EXON Silent,Silent,Missense_D90N exm85516 1 114424609 [A/G] NR_125965,NR_037864,NM_001010922 AP4B1-AS1,AP4B1-AS1,BCL2L15 EXON Silent,Silent,Missense_I87T variant.5747 1 114424621 [T/C] NR_125965,NR_037864,NM_001010922 AP4B1-AS1,AP4B1-AS1,BCL2L15 Silent,Silent,Silent variant.5748 1 114429159 [T/C] NR_125965,NR_037864,NM_001010922 AP4B1-AS1,AP4B1-AS1,BCL2L15 EXON Silent,Silent,Synonymous_Q83Q exm2276895 1 114429161 [A/G] NR_125965,NR_037864,NM_001010922 AP4B1-AS1,AP4B1-AS1,BCL2L15 EXON Silent,Silent,Nonsense_Q83X exm2275472 1 114429213 [A/G] NR_125965,NR_037864,NM_001010922 AP4B1-AS1,AP4B1-AS1,BCL2L15 EXON Silent,Silent,Synonymous_N65N rs2358994 1 114429461 [A/G] NR_125965,NR_037864,NM_001010922 AP4B1-AS1,AP4B1-AS1,BCL2L15 Silent,Silent,Silent indel.5750 1 114429981 [D/I] NR_125965,NR_037864,NM_001010922 AP4B1-AS1,AP4B1-AS1,BCL2L15 EXON rs1539438 1 114430356 [T/C] NR_125965,NR_037864 AP4B1-AS1,AP4B1-AS1 Silent,Silent rs1018592 1 114430618 [T/G] NR_125965,NR_037864 AP4B1-AS1,AP4B1-AS1 Silent,Silent rs10745340 1 114436970 [T/C] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm2273679 1 114437707 [T/C] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Missense_I734V,Missense_I566V,Missense_I734V,Missense_I635V exm85540 1 114438064 [A/C] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Missense_S615A,Missense_S447A,Missense_S615A,Missense_S516A exm85544 1 114438448 [T/C] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Missense_I575V,Missense_I407V,Missense_I575V,Missense_I476V exm1701974 1 114438613 [A/G] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Missense_R520C,Missense_R352C,Missense_R520C,Missense_R421C exm85551 1 114438882 [A/G] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Missense_I503T,Missense_I335T,Missense_I503T,Missense_I404T exm85556 1 114438951 [A/G] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Missense_L480S,Missense_L312S,Missense_L480S,Missense_L381S rs1217401 1 114438951 [A/G] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Missense_L480S,Missense_L312S,Missense_L480S,Missense_L381S exm85570 1 114440547 [T/C] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Missense_R406Q,Missense_R238Q,Missense_R406Q,Missense_R307Q variant.5755 1 114440613 [T/C] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 Silent,Silent,Silent,Silent,Silent,Silent exm85573 1 114441349 [T/C] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Missense_I397V,Missense_I229V,Missense_I397V,Missense_I298V variant.5756 1 114441361 [A/G] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Nonsense_R393X,Nonsense_R225X,Nonsense_R393X,Nonsense_R294X indel.5758 1 114441387 [I/D] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON exm85582 1 114442583 [A/G] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Nonsense_R353X,Nonsense_R185X,Nonsense_R353X,Nonsense_R254X variant.5760 1 114442604 [A/G] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Nonsense_Q346X,Nonsense_Q178X,Nonsense_Q346X,Nonsense_Q247X exm1701980 1 114442672 [A/G] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Missense_S323L,Missense_S155L,Missense_S323L,Missense_S224L exm85584 1 114442673 [T/A] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Missense_S323T,Missense_S155T,Missense_S323T,Missense_S224T indel.5761 1 114442682 [I/D] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON exm85589 1 114442742 [A/C] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Missense_V300L,Missense_V132L,Missense_V300L,Missense_V201L exm1701981 1 114442837 [T/C] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Missense_H268R,Missense_H100R,Missense_H268R,Missense_H169R exm85596 1 114442873 [A/G] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Missense_T256I,Missense_T88I,Missense_T256I,Missense_T157I exm85597 1 114442885 [A/G] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Missense_V252A,Missense_V84A,Missense_V252A,Missense_V153A variant.5762 1 114442891 [T/C] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Missense_G250D,Missense_G82D,Missense_G250D,Missense_G151D indel.5764 1 114442977 [I/D] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON newrs149705131 1 114443858 [T/C] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Missense_R206Q,Silent,Missense_R206Q,Missense_R107Q variant.5766 1 114443859 [A/G] NR_125965,NR_037864,NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1-AS1,AP4B1-AS1,AP4B1,AP4B1,AP4B1,AP4B1 EXON Silent,Silent,Nonsense_R206X,Silent,Nonsense_R206X,Nonsense_R107X exm85617 1 114444457 [T/C] NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1,AP4B1,AP4B1,AP4B1 EXON Missense_R130Q,Silent,Missense_R130Q,Missense_R31Q exm85619 1 114444488 [A/T] NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1,AP4B1,AP4B1,AP4B1 EXON Missense_Y120N,Silent,Missense_Y120N,Missense_Y21N exm1701992 1 114445447 [T/G] NM_001253852,NM_001308312,NM_006594,NM_001253853 AP4B1,AP4B1,AP4B1,AP4B1 EXON Missense_M51L,Silent,Missense_M51L,Silent exm2230834 1 114447565 [A/G] NM_006594,NM_001253853,NM_001319947 AP4B1,AP4B1,DCLRE1B EXON Silent,Silent,Silent exm85641 1 114448279 [T/C] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON Silent,Silent,Silent,Missense_A24V,Missense_A24V exm85645 1 114448345 [T/G] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON Silent,Silent,Silent,Missense_R46L,Missense_R46L exm85648 1 114448389 [T/C] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON Silent,Silent,Silent,Missense_H61Y,Missense_H61Y rs3761936 1 114449662 [T/C] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON Silent,Silent,Silent,Synonymous_H78H,Synonymous_H78H variant.5770 1 114450639 [T/C] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON Silent,Silent,Silent,Nonsense_R122X,Nonsense_R122X newrs150374247 1 114450747 [T/C] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON Nonsense_R32X,Nonsense_R32X,Nonsense_R32X,Nonsense_R158X,Nonsense_R158X exm85660 1 114450759 [A/G] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON Missense_A36T,Missense_A36T,Missense_A36T,Missense_A162T,Missense_A162T exm85671 1 114454061 [T/C] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON Missense_R157C,Missense_R157C,Missense_R157C,Missense_R283C,Missense_R283C exm85672 1 114454062 [A/G] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON Missense_R157H,Missense_R157H,Missense_R157H,Missense_R283H,Missense_R283H exm85673 1 114454112 [T/C] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON Missense_R174W,Missense_R174W,Missense_R174W,Missense_R300W,Missense_R300W exm85679 1 114454218 [A/G] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON Missense_S209N,Missense_S209N,Missense_S209N,Missense_S335N,Missense_S335N indel.5772 1 114454280 [D/I] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON exm85688 1 114454398 [A/G] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON Missense_R269Q,Missense_R269Q,Missense_R269Q,Missense_R395Q,Missense_R395Q exm85691 1 114454467 [T/C] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON Missense_S292F,Silent,Missense_S292F,Missense_S418F,Silent exm85695 1 114454598 [A/G] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON Missense_D336N,Silent,Missense_D336N,Missense_D462N,Silent exm2230838 1 114454610 [A/G] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON Missense_G340S,Silent,Missense_G340S,Missense_G466S,Silent exm85699 1 114454658 [T/C] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON Missense_P356S,Silent,Missense_P356S,Missense_P482S,Silent exm85703 1 114454742 [T/A] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON Missense_N384Y,Silent,Missense_N384Y,Missense_N510Y,Silent indel.5773 1 114454791 [I/D] NM_001319947,NM_001363691,NM_001319946,NM_022836,NM_001363690 DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B,DCLRE1B EXON rs10858024 1 114457769 [A/C] rs1000528 1 114471189 [T/C] NR_110726,NR_110725 HIPK1-AS1,HIPK1-AS1 Silent,Silent rs7519860 1 114482520 [A/G] NM_198268,NM_152696 HIPK1,HIPK1 Silent,Silent rs4381184 1 114489769 [A/C] NM_198268,NM_152696 HIPK1,HIPK1 Silent,Silent rs11102707 1 114493583 [A/G] NM_198268,NM_152696 HIPK1,HIPK1 Silent,Silent exm85737 1 114497331 [G/C] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_T420R,Missense_T420R,Missense_T46R,Missense_T26R exm1702052 1 114499261 [A/G] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_T474A,Missense_T474A,Missense_T100A,Missense_T80A rs11485101 1 114501968 [A/G] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 Silent,Silent,Silent,Silent exm85752 1 114504990 [A/G] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_N678S,Missense_N678S,Missense_N304S,Missense_N284S exm85771 1 114508845 [A/G] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_A778T,Missense_A778T,Missense_A404T,Missense_A384T exm85773 1 114508867 [A/G] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_G785E,Missense_G785E,Missense_G411E,Missense_G391E exm85778 1 114510534 [T/C] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_S843L,Missense_S843L,Missense_S469L,Missense_S449L exm85781 1 114511201 [G/C] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_P901R,Missense_P901R,Missense_P527R,Missense_P507R exm1702079 1 114512582 [A/G] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_G926R,Missense_G926R,Missense_G552R,Missense_G532R exm85782 1 114512613 [A/G] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_Y936C,Missense_Y936C,Missense_Y562C,Missense_Y542C exm85790 1 114512744 [A/G] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_T980A,Missense_T980A,Missense_T606A,Missense_T586A exm85795 1 114514475 [A/G] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_A1015T,Missense_A1015T,Missense_A641T,Missense_A621T exm85796 1 114514530 [T/C] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_A1033V,Missense_A1033V,Missense_A659V,Missense_A639V exm85798 1 114514536 [A/G] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_R1035H,Missense_R1035H,Missense_R661H,Missense_R641H exm85809 1 114515662 [T/C] NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1 EXON Missense_A1054V,Missense_A680V,Missense_A660V exm2264892 1 114515717 [A/G] NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1 EXON Synonymous_A1072A,Synonymous_A698A,Synonymous_A678A exm85826 1 114516078 [A/G] NM_198268,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1 EXON Missense_I1193V,Missense_I819V,Missense_I799V exm85838 1 114523113 [T/C] NM_020190,NM_001286353,NM_001286352 OLFML3,OLFML3,OLFML3 EXON Missense_R92W,Missense_R31W,Missense_R72W exm85852 1 114523729 [A/C] NM_020190,NM_001286353,NM_001286352 OLFML3,OLFML3,OLFML3 EXON Missense_R187S,Missense_R126S,Missense_R167S exm85854 1 114523753 [T/G] NM_020190,NM_001286353,NM_001286352 OLFML3,OLFML3,OLFML3 EXON Missense_A195S,Missense_A134S,Missense_A175S exm85860 1 114523948 [A/G] NM_020190,NM_001286353,NM_001286352 OLFML3,OLFML3,OLFML3 EXON Missense_E260K,Missense_E199K,Missense_E240K exm85880 1 114524237 [T/C] NM_020190,NM_001286353,NM_001286352 OLFML3,OLFML3,OLFML3 EXON Missense_T356I,Missense_T295I,Missense_T336I exm85883 1 114524275 [T/C] NM_020190,NM_001286353,NM_001286352 OLFML3,OLFML3,OLFML3 EXON Missense_Y369H,Missense_Y308H,Missense_Y349H exm85886 1 114524315 [A/G] NM_020190,NM_001286353,NM_001286352 OLFML3,OLFML3,OLFML3 EXON Missense_R382H,Missense_R321H,Missense_R362H indel.5779 1 114524376 [I/D] NM_020190,NM_001286353,NM_001286352 OLFML3,OLFML3,OLFML3 EXON rs3006988 1 114527420 [T/C] rs1995483 1 114533498 [A/G] rs3006977 1 114539586 [A/G] rs1503836 1 114541498 [T/G] rs12402202 1 114541955 [A/C] rs2938337 1 114585077 [T/C] rs2938321 1 114587447 [A/G] rs11102724 1 114596480 [T/C] rs950779 1 114602971 [T/G] rs496267 1 114616228 [A/C] rs1053135 1 114634485 [T/C] NM_205848,NM_001270805 SYT6,SYT6 EXON Silent,Silent exm85896 1 114640393 [T/C] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_A406T,Missense_A406T exm85897 1 114640404 [T/C] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_R402Q,Missense_R402Q exm85900 1 114640468 [A/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_R381C,Missense_R381C newrs149899868 1 114641717 [A/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Nonsense_R370X,Nonsense_R370X rs6537810 1 114642562 [A/G] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs750906 1 114646763 [T/C] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs745392 1 114648547 [A/G] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs729300 1 114649247 [T/C] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs676715 1 114653675 [A/C] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs552581 1 114659327 [T/C] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs588983 1 114659419 [T/C] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs12027243 1 114664584 [T/C] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs6683573 1 114665586 [A/G] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs7546417 1 114668299 [A/C] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs670495 1 114675629 [A/G] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs476567 1 114676717 [A/G] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs901137 1 114679068 [T/C] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent exm1702213 1 114680217 [T/C] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_R239H,Missense_R239H exm85914 1 114680218 [A/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_R239C,Missense_R239C exm85919 1 114680310 [A/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_T208I,Missense_T208I exm85923 1 114680329 [A/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_R202C,Missense_R202C exm2230842 1 114680359 [A/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_R192C,Missense_R192C exm85926 1 114680396 [T/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_S179R,Missense_S179R exm85929 1 114680442 [T/C] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_R164H,Missense_R164H exm85932 1 114680475 [T/C] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_R153H,Missense_R153H rs17032441 1 114680540 [T/C] NM_205848,NM_001270805 SYT6,SYT6 EXON Synonymous_S131S,Synonymous_S131S exm85950 1 114682286 [A/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_R70C,Missense_R70C exm2230844 1 114682407 [T/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_N29K,Missense_N29K exm85957 1 114682424 [A/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_P24S,Missense_P24S exm85958 1 114682425 [G/C] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_S23R,Missense_S23R exm85959 1 114682445 [A/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_P17S,Missense_P17S rs1119040 1 114684419 [A/G] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs2629824 1 114687316 [A/G] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs6687460 1 114690985 [T/C] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs2251405 1 114697134 [A/G] rs2629821 1 114703427 [A/G] rs2150203 1 114706770 [T/C] rs497304 1 114709317 [T/G] exm-rs2774292 1 114715584 [A/G] exm2249700 1 114720018 [A/G] rs4839004 1 114733635 [A/G] rs430928 1 114741351 [A/G] rs378188 1 114742357 [A/C] rs1028574 1 114743352 [T/C] rs768566 1 114749081 [T/C] rs6537816 1 114750905 [A/G] rs1385665 1 114753083 [T/C] rs12068395 1 114754578 [A/G] rs1485594 1 114762107 [A/G] rs10776781 1 114766687 [A/G] rs7550248 1 114773981 [T/C] rs6670053 1 114780835 [T/C] rs416908 1 114795885 [T/C] rs11589933 1 114807559 [A/C] rs6664266 1 114818994 [T/C] rs11588687 1 114833410 [T/C] rs6689069 1 114857644 [A/G] rs11102782 1 114878783 [T/C] rs1535035 1 114888412 [T/G] rs516610 1 114894805 [A/C] rs556765 1 114900678 [T/C] rs12753188 1 114920097 [T/C] exm85977 1 114940386 [T/G] NM_033020,NM_015906 TRIM33,TRIM33 EXON Missense_P1073T,Missense_P1090T exm85988 1 114945393 [T/C] NM_033020,NM_015906 TRIM33,TRIM33 EXON Missense_V961M,Missense_V961M exm86001 1 114948210 [T/C] NM_033020,NM_015906 TRIM33,TRIM33 EXON Missense_I864V,Missense_I864V exm86002 1 114948281 [A/G] NM_033020,NM_015906 TRIM33,TRIM33 EXON Missense_I840T,Missense_I840T exm86006 1 114948338 [T/C] NM_033020,NM_015906 TRIM33,TRIM33 EXON Missense_N821S,Missense_N821S exm86035 1 114970516 [T/G] NM_033020,NM_015906 TRIM33,TRIM33 EXON Missense_N386H,Missense_N386H rs12083584 1 114973429 [T/C] NM_033020,NM_015906 TRIM33,TRIM33 EXON Synonymous_Q382Q,Synonymous_Q382Q rs11585926 1 114973690 [T/C] NM_033020,NM_015906 TRIM33,TRIM33 Silent,Silent exm86047 1 115006983 [T/C] NM_033020,NM_015906 TRIM33,TRIM33 EXON Missense_R185H,Missense_R185H rs3827735 1 115052708 [A/C] NM_033020,NM_015906 TRIM33,TRIM33 Silent,Silent rs11102807 1 115061584 [A/G] rs10858046 1 115073780 [T/C] variant.5785 1 115119310 [A/G] NM_005872 BCAS2 EXON Nonsense_R86X newrs113879535 1 115123919 [T/C] NM_005872 BCAS2 Silent variant.5788 1 115130004 [T/G] NM_198459,NM_001256404 DENND2C,DENND2C Silent,Silent exm86091 1 115130363 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_R824Q,Missense_R881Q indel.5789 1 115130460 [I/D] NM_198459,NM_001256404 DENND2C,DENND2C EXON exm86100 1 115130508 [A/G] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_Y776H,Missense_Y833H rs222495 1 115136771 [A/G] NM_198459,NM_001256404 DENND2C,DENND2C Silent,Silent exm86106 1 115138455 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_E718K,Missense_E775K variant.5790 1 115141915 [A/G] NM_198459,NM_001256404 DENND2C,DENND2C EXON Nonsense_Q698X,Nonsense_Q755X exm86109 1 115141989 [A/G] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_A673V,Missense_A730V indel.5791 1 115142073 [I/D] NM_198459,NM_001256404 DENND2C,DENND2C exm86111 1 115142823 [A/G] NM_198459,NM_001256404 DENND2C,DENND2C Silent,Silent exm86115 1 115142870 [A/G] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_S630F,Missense_S687F exm86121 1 115143520 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_R569Q,Missense_R626Q exm86132 1 115144142 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_N544S,Missense_N601S exm86140 1 115144789 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_G508D,Missense_G565D rs222499 1 115146488 [A/C] NM_198459,NM_001256404 DENND2C,DENND2C Silent,Silent exm86150 1 115151482 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_R404H,Missense_R461H exm86151 1 115151492 [G/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_R401G,Missense_R458G rs11102824 1 115152814 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C Silent,Silent variant.5795 1 115153693 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C Silent,Silent exm86159 1 115161015 [A/G] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_P382L,Missense_P439L exm86172 1 115166128 [A/G] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_Y315H,Missense_Y315H exm86173 1 115166137 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_D312N,Missense_D312N variant.5799 1 115166161 [A/G] NM_198459,NM_001256404 DENND2C,DENND2C EXON Nonsense_Q304X,Nonsense_Q304X newrs141326167 1 115167800 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_R269K,Missense_R269K exm86189 1 115167939 [A/G] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_S223P,Missense_S223P exm86192 1 115167999 [T/A] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_C203S,Missense_C203S exm86196 1 115168068 [A/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_V180F,Missense_V180F exm86197 1 115168097 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_D170G,Missense_D170G rs12136548 1 115168097 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_D170G,Missense_D170G exm86199 1 115168119 [A/T] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_N163Y,Missense_N163Y exm86200 1 115168143 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_A155T,Missense_A155T exm86204 1 115168226 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_C127Y,Missense_C127Y exm86208 1 115168303 [T/G] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_E101D,Missense_E101D exm86216 1 115168440 [T/G] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_I56L,Missense_I56L exm86217 1 115168466 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_G47E,Missense_G47E exm86218 1 115168480 [A/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_C42W,Missense_C42W indel.5804 1 115168566 [I/D] NM_198459,NM_001256404 DENND2C,DENND2C EXON exm86220 1 115168586 [T/C] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_R7H,Missense_R7H exm86221 1 115168600 [T/A] NM_198459,NM_001256404 DENND2C,DENND2C EXON Missense_D2E,Missense_D2E rs6697757 1 115215640 [A/C] exm86226 1 115215796 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_R757H,Missense_R761H exm86228 1 115215833 [A/G] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_R745W,Missense_R749W exm86234 1 115216359 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_M691I,Missense_M695I exm86235 1 115216529 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 Silent,Silent exm86245 1 115217379 [T/A] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_L627F,Missense_L631F variant.5805 1 115217465 [A/G] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Nonsense_R599X,Nonsense_R603X 1KG_1_115218558 1 115218558 [D/I] NM_001172626,NM_000036 AMPD1,AMPD1 EXON exm86258 1 115218613 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_R496H,Missense_R500H variant.5807 1 115219967 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 Silent,Silent exm86274 1 115220593 [A/G] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_R417W,Missense_R421W exm86283 1 115221075 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_Q353R,Missense_Q357R exm86287 1 115221116 [A/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_M339I,Missense_M343I newrs143235944 1 115222223 [A/G] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Nonsense_R321X,Nonsense_R325X exm86301 1 115222959 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_K259E,Missense_K263E indel.5816 1 115223101 [I/D] NM_001172626,NM_000036 AMPD1,AMPD1 exm86310 1 115226855 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_G200D,Missense_G204D newrs139582106 1 115226899 [A/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_Q185H,Missense_Q189H exm86318 1 115226973 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_D161N,Missense_D165N exm86319 1 115229365 [C/G] NM_001172626,NM_000036 AMPD1,AMPD1 Silent,Silent exm86320 1 115229413 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_V141M,Missense_V145M exm86324 1 115229512 [A/G] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_R108W,Missense_R112W exm86325 1 115229523 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_R104H,Missense_R108H exm86327 1 115231197 [A/G] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_S96F,Missense_S100F exm86332 1 115231254 [A/G] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_P77L,Missense_P81L var_1_115231365 1 115231366 [D/I] NM_001172626,NM_000036 AMPD1,AMPD1 exm86344 1 115236056 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 Silent,Silent exm86345 1 115236057 [A/G] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Silent,Nonsense_Q45X indel.5824 1 115238151 [D/I] NM_001172626,NM_000036 AMPD1,AMPD1 EXON rs6667218 1 115238982 [A/G] rs926938 1 115239816 [A/G] 1KG_1_115258741 1 115258741 [D/I] NM_002524 NRAS EXON exm2273331 1 115260781 [T/G] NM_001242892,NM_001130523,NM_001242893,NM_001242891,NM_001007553,NM_007158 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm86367 1 115260809 [T/G] NM_001242892,NM_001130523,NM_001242893,NM_001242891,NM_001007553,NM_007158 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Missense_Q793P,Missense_Q808P,Missense_Q762P,Missense_Q839P,Missense_Q793P,Missense_Q762P exm86378 1 115262319 [A/G] NM_001242892,NM_001130523,NM_001242893,NM_001242891,NM_001007553,NM_007158 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_F699F,Synonymous_F714F,Synonymous_F668F,Synonymous_F745F,Synonymous_F699F,Synonymous_F668F exm86387 1 115263247 [T/C] NM_001242892,NM_001130523,NM_001242893,NM_001242891,NM_001007553,NM_007158 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_Q655Q,Synonymous_Q670Q,Synonymous_Q624Q,Synonymous_Q701Q,Synonymous_Q655Q,Synonymous_Q624Q exm86392 1 115266559 [T/C] NM_001242892,NM_001130523,NM_001242893,NM_001242891,NM_001007553,NM_007158 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_R606R,Synonymous_R621R,Synonymous_R575R,Synonymous_R652R,Synonymous_R606R,Synonymous_R575R exm86402 1 115268944 [A/G] NM_001242892,NM_001130523,NM_001242893,NM_001242891,NM_001007553,NM_007158 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_L510L,Synonymous_L525L,Synonymous_L479L,Synonymous_L556L,Synonymous_L510L,Synonymous_L479L variant.5825 1 115269713 [T/C] NM_001242892,NM_001130523,NM_001242893,NM_001242891,NM_001007553,NM_007158 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 Silent,Silent,Silent,Silent,Silent,Silent exm86411 1 115272916 [T/C] NM_001242892,NM_001130523,NM_001242893,NM_001242891,NM_001007553,NM_007158 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Missense_N440S,Missense_N455S,Missense_N409S,Missense_N486S,Missense_N440S,Missense_N409S exm86421 1 115273144 [T/C] NM_001242892,NM_001130523,NM_001242893,NM_001242891,NM_001007553,NM_007158 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_E392E,Synonymous_E407E,Synonymous_E361E,Synonymous_E438E,Synonymous_E392E,Synonymous_E361E exm86428 1 115275363 [T/C] NM_001242892,NM_001130523,NM_001242893,NM_001242891,NM_001007553,NM_007158 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_T304T,Synonymous_T319T,Synonymous_T273T,Synonymous_T350T,Synonymous_T304T,Synonymous_T273T exm86435 1 115277136 [A/G] NM_001242892,NM_001130523,NM_001242893,NM_001242891,NM_001007553,NM_007158 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Missense_A170V,Missense_A185V,Missense_A139V,Missense_A216V,Missense_A170V,Missense_A139V exm86441 1 115280587 [T/G] NM_001242892,NM_001130523,NM_001242893,NM_001242891,NM_001007553,NM_007158 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_G102G,Synonymous_G148G,Synonymous_G102G,Synonymous_G148G,Synonymous_G102G,Synonymous_G102G rs10489526 1 115293527 [A/C] NM_001242892,NM_001130523,NM_001242893,NM_001242891,NM_001007553,NM_007158 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 Silent,Silent,Silent,Silent,Silent,Silent rs6681671 1 115300685 [T/C] exm1702572 1 115316921 [T/C] NM_025073,NM_001102396,NR_049742,NR_049741 SIKE1,SIKE1,SIKE1,SIKE1 EXON Missense_M199V,Missense_M203V,Silent,Silent exm86481 1 115323219 [T/C] NM_025073,NM_001102396,NR_049742,NR_049741 SIKE1,SIKE1,SIKE1,SIKE1 EXON Missense_T4A,Missense_T4A,Silent,Silent rs2377415 1 115342465 [A/G] rs3126218 1 115348476 [T/C] rs3126216 1 115372525 [A/G] rs869990 1 115379614 [A/G] exm86494 1 115400087 [A/G] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 EXON Missense_Y87C,Missense_Y87C,Missense_Y87C,Silent exm86506 1 115417175 [A/G] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 EXON Missense_N216S,Missense_N216S,Missense_N216S,Silent exm2268741 1 115427218 [T/C] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 Silent,Silent,Silent,Silent exm86516 1 115428783 [T/C] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 EXON Missense_A348V,Missense_A348V,Missense_A348V,Silent exm86518 1 115428840 [A/C] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 EXON Missense_N367T,Missense_N367T,Missense_N367T,Silent exm86523 1 115428895 [G/C] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 EXON Missense_C385W,Missense_C385W,Missense_C385W,Silent rs6661511 1 115437986 [A/G] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 Silent,Silent,Silent,Silent exm1702622 1 115453062 [T/G] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 EXON Missense_K455N,Missense_K455N,Missense_K455N,Silent indel.5829 1 115453123 [D/I] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 exm86536 1 115455661 [A/G] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 EXON Missense_N513D,Missense_N513D,Missense_N513D,Silent exm86538 1 115455679 [A/C] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 EXON Missense_H519N,Missense_H519N,Missense_H519N,Silent exm86547 1 115466098 [G/C] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 EXON Missense_L583V,Missense_L583V,Missense_L583V,Silent rs360589 1 115470852 [T/C] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 Silent,Silent,Silent,Silent exm86560 1 115487521 [A/C] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 EXON Missense_E691A,Missense_E691A,Missense_E691A,Silent exm86563 1 115489865 [A/G] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 Silent,Silent,Silent,Silent exm86564 1 115489879 [T/G] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 EXON Missense_S754A,Missense_S754A,Silent,Silent rs360675 1 115490918 [T/C] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 Silent,Silent,Silent,Silent rs360682 1 115497059 [T/G] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 Silent,Silent,Silent,Silent exm86578 1 115527364 [T/C] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 EXON Missense_P860S,Missense_P860S,Missense_P835S,Silent exm86579 1 115527431 [A/G] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 EXON Missense_R882K,Missense_R882K,Missense_R857K,Silent 1KG_1_115527488 1 115527488 [D/I] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 EXON exm86587 1 115537367 [A/C] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 EXON Missense_N918H,Missense_N918H,Missense_N893H,Silent exm86594 1 115537632 [A/T] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 EXON Missense_F975I,Missense_F975I,Missense_F950I,Silent rs11084 1 115537933 [A/G] NM_003176,NM_001282541,NM_001282542,NR_104211 SYCP1,SYCP1,SYCP1,SYCP1 EXON Silent,Silent,Silent,Silent rs1575067 1 115563866 [A/G] rs1575070 1 115567885 [T/C] rs1321109 1 115571916 [A/G] rs11102875 1 115575715 [A/G] NM_000549 TSHB Silent var_1_115576150 1 115576150 [A/G] NM_000549 TSHB Silent newrs121918670 1 115576636 [T/C] NM_000549,NM_001277991 TSHB,TSHB EXON Nonsense_Q69X,Nonsense_Q24X indel.5839 1 115576674 [D/I] NM_000549,NM_001277991 TSHB,TSHB EXON exm86608 1 115576727 [T/C] NM_000549,NM_001277991 TSHB,TSHB EXON Missense_V99A,Missense_V54A indel.5840 1 115576804 [I/D] NM_000549,NM_001277991 TSHB,TSHB EXON rs3738706 1 115592820 [T/C] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 EXON Silent,Silent,Silent exm86619 1 115593151 [A/G] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 EXON Missense_V209A,Missense_V184A,Missense_V181A exm86620 1 115593158 [T/A] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 EXON Missense_S207C,Missense_S182C,Missense_S179C rs12026930 1 115597836 [A/G] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 Silent,Silent,Silent newrs151099839 1 115600157 [A/C] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 Silent,Silent,Silent exm86630 1 115601504 [T/C] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 EXON Synonymous_T148T,Synonymous_T123T,Synonymous_T148T exm86633 1 115601595 [A/C] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 EXON Missense_R118L,Missense_R93L,Missense_R118L variant.5843 1 115601596 [A/G] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 EXON Nonsense_R118X,Nonsense_R93X,Nonsense_R118X rs7526323 1 115604241 [A/G] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 Silent,Silent,Silent exm86640 1 115604804 [T/G] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 EXON Missense_F74L,Missense_F74L,Missense_F74L rs4839407 1 115605646 [T/C] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 Silent,Silent,Silent rs1321106 1 115609203 [T/C] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 Silent,Silent,Silent rs717275 1 115610091 [T/C] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 Silent,Silent,Silent exm86650 1 115615583 [G/C] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 EXON Missense_G39R,Missense_G39R,Missense_G39R rs1286364 1 115617406 [A/G] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 Silent,Silent,Silent rs4839411 1 115618813 [T/C] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 Silent,Silent,Silent rs4475751 1 115622283 [A/G] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 Silent,Silent,Silent rs2144549 1 115625348 [T/C] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 Silent,Silent,Silent rs1406859 1 115626071 [A/G] NM_005725,NM_001308315,NM_001308316 TSPAN2,TSPAN2,TSPAN2 Silent,Silent,Silent rs4839413 1 115638044 [A/C] rs6691374 1 115642818 [T/C] rs1750391 1 115642847 [A/G] rs1852989 1 115648756 [A/G] exm2265038 1 115658497 [A/G] rs6679900 1 115664311 [T/C] rs987267 1 115664930 [A/G] rs910625 1 115674952 [T/C] rs4367784 1 115685684 [T/C] rs1627351 1 115688400 [A/G] rs2798476 1 115697580 [T/C] rs1294449 1 115721520 [A/G] rs17540136 1 115722705 [A/G] rs195216 1 115723695 [T/G] rs1146165 1 115728581 [A/G] rs9429549 1 115733494 [T/C] rs195204 1 115734091 [T/C] exm-rs195204 1 115734091 [T/C] rs11806316 1 115753482 [A/G] rs12129295 1 115755552 [A/G] rs1040605 1 115759830 [A/G] rs1294387 1 115767978 [T/C] rs7542599 1 115782754 [T/C] rs11102901 1 115796490 [A/G] rs12033518 1 115797624 [T/C] exm2268742 1 115797624 [T/C] rs12745217 1 115799299 [T/C] rs10776796 1 115805053 [T/G] rs17033571 1 115810164 [A/G] rs11102914 1 115812379 [A/G] exm86667 1 115828864 [T/C] NM_002506 NGF EXON Missense_V185I exm86671 1 115828972 [T/C] NM_002506 NGF EXON Missense_A149T exm86682 1 115829133 [T/C] NM_002506 NGF EXON Missense_R95H exm86684 1 115829160 [T/C] NM_002506 NGF EXON Missense_R86H exm86687 1 115829170 [A/G] NM_002506 NGF EXON Missense_R83C exm86693 1 115829257 [T/C] NM_002506 NGF EXON Missense_A54T exm86697 1 115829313 [A/G] NM_002506 NGF EXON Missense_A35V rs6330 1 115829313 [A/G] NM_002506 NGF EXON Missense_A35V rs910330 1 115835500 [T/G] NM_002506 NGF Silent rs2239622 1 115837709 [A/G] NM_002506 NGF Silent rs12058927 1 115846221 [T/C] NM_002506 NGF Silent rs10776797 1 115847295 [T/G] NM_002506 NGF Silent rs10858072 1 115847392 [T/C] NM_002506 NGF Silent rs6537860 1 115856344 [A/G] NM_002506 NGF Silent rs12145726 1 115857251 [A/G] NM_002506 NGF Silent rs10776798 1 115862254 [A/C] NM_002506 NGF Silent rs7530686 1 115863900 [T/C] NM_002506 NGF Silent rs17033692 1 115869850 [T/C] NM_002506 NGF Silent rs10776801 1 115882541 [A/G] rs11102933 1 115894321 [A/C] rs12081407 1 115895838 [A/G] rs11584234 1 115907009 [T/G] rs7552722 1 115921355 [T/C] rs556723 1 115943077 [T/C] rs17033822 1 115969592 [A/G] rs17033823 1 115972614 [T/C] rs1327126 1 115973920 [T/C] rs2148691 1 115994787 [A/C] rs34385187 1 115998249 [T/C] rs17556126 1 115998480 [T/G] rs2334915 1 116000680 [A/G] rs553146 1 116000763 [T/C] rs913203 1 116011300 [A/G] rs735882 1 116011901 [A/G] rs28645661 1 116050880 [T/C] rs552279 1 116069039 [A/G] rs538254 1 116072652 [T/C] rs3010406 1 116089793 [A/G] rs17033934 1 116093778 [T/C] rs3010383 1 116096653 [A/G] rs4839038 1 116102456 [T/C] rs6413949 1 116128484 [T/G] rs4403633 1 116128774 [T/G] rs4332360 1 116146472 [T/C] rs10494178 1 116155918 [A/G] rs4240548 1 116170427 [T/C] rs4839463 1 116170705 [A/C] rs4601591 1 116174876 [A/G] exm86707 1 116202263 [A/G] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_E25K,Missense_E25K,Missense_E25K exm86709 1 116202288 [T/C] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_S33L,Missense_S33L,Missense_S33L exm86719 1 116206384 [A/G] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_V103M,Missense_V101M,Missense_V103M exm86721 1 116206400 [A/G] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_K108R,Missense_K106R,Missense_K108R exm2249709 1 116206407 [T/C] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Synonymous_Y110Y,Synonymous_Y108Y,Synonymous_Y110Y exm86727 1 116206423 [A/G] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_A116T,Missense_A114T,Missense_A116T indel.5848 1 116206475 [I/D] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON exm86735 1 116206600 [T/C] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_R175W,Missense_R173W,Missense_R175W exm86736 1 116206614 [A/G] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_M179I,Missense_M177I,Missense_M179I exm86752 1 116206843 [T/C] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_R256C,Missense_R254C,Missense_R256C rs12137412 1 116214846 [T/C] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 Silent,Silent,Silent rs4571967 1 116220451 [T/G] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 Silent,Silent,Silent rs4284265 1 116220533 [A/G] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 Silent,Silent,Silent rs12568559 1 116223259 [A/G] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 Silent,Silent,Silent rs6699583 1 116223306 [T/G] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 Silent,Silent,Silent newrs121918219 1 116224993 [A/G] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_R274Q,Missense_R272Q,Missense_R274Q exm86760 1 116225040 [T/C] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_Y290H,Missense_Y288H,Missense_Y290H exm86771 1 116226631 [A/C] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Nonsense_S338X,Nonsense_S336X,Nonsense_S338X exm86773 1 116226658 [A/C] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_E347A,Missense_E345A,Missense_E347A variant.5853 1 116226702 [A/G] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 Silent,Silent,Silent exm1702870 1 116227961 [A/G] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_Q376R,Missense_Q374R,Missense_Q376R exm86781 1 116228000 [A/G] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_D389G,Missense_D387G,Missense_D389G exm86782 1 116228006 [T/G] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_R391M,Missense_R389M,Missense_R391M exm86787 1 116228134 [A/G] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_G434S,Missense_G432S,Missense_G434S exm86796 1 116233974 [T/C] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_R517C,Missense_R515C,Missense_R517C rs10494179 1 116239368 [A/G] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Silent,Silent,Silent rs6428677 1 116240026 [A/G] NM_138959,NM_001172411,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Silent,Silent,Silent rs6673301 1 116241211 [A/G] rs7521023 1 116243380 [A/G] NM_001232 CASQ2 EXON Silent exm86813 1 116244031 [T/A] NM_001232 CASQ2 EXON Missense_M344K variant.5854 1 116244034 [T/C] NM_001232 CASQ2 EXON Nonsense_W343X exm86817 1 116245571 [A/G] NM_001232 CASQ2 EXON Missense_P329S rs3811003 1 116247790 [A/G] NM_001232 CASQ2 Silent exm86820 1 116247824 [T/C] NM_001232 CASQ2 EXON Missense_D310N exm86826 1 116247878 [A/C] NM_001232 CASQ2 EXON Missense_A292S variant.5856 1 116260516 [T/C] NM_001232 CASQ2 Silent rs2997742 1 116260604 [A/G] NM_001232 CASQ2 Silent variant.5857 1 116269612 [T/C] NM_001232 CASQ2 Silent exm86839 1 116269619 [T/C] NM_001232 CASQ2 EXON Missense_H244R exm86840 1 116269620 [A/G] NM_001232 CASQ2 EXON Missense_H244Y variant.5859 1 116269645 [A/C] NM_001232 CASQ2 EXON Missense_E235D rs35672929 1 116270234 [T/G] NM_001232 CASQ2 Silent exm86843 1 116275561 [G/C] NM_001232 CASQ2 EXON Missense_F189L exm2249711 1 116278503 [A/C] NM_001232 CASQ2 Silent exm86847 1 116280895 [A/G] NM_001232 CASQ2 EXON Missense_I161T exm86848 1 116280896 [T/C] NM_001232 CASQ2 EXON Missense_I161V rs9428083 1 116283343 [A/G] NM_001232 CASQ2 Silent variant.5861 1 116283348 [T/C] NM_001232 CASQ2 Silent rs10801967 1 116286983 [A/G] NM_001232 CASQ2 Silent rs4839478 1 116295007 [A/G] NM_001232 CASQ2 Silent rs17034482 1 116297034 [A/G] NM_001232 CASQ2 Silent rs4073778 1 116297758 [A/C] NM_001232 CASQ2 Silent rs9428087 1 116301565 [A/G] NM_001232 CASQ2 Silent rs9428225 1 116302923 [T/C] NM_001232 CASQ2 Silent exm86859 1 116310937 [T/C] NM_001232 CASQ2 EXON Missense_V76M exm86861 1 116310967 [T/C] NM_001232 CASQ2 EXON Missense_T66A rs4074536 1 116310967 [T/C] NM_001232 CASQ2 EXON Missense_T66A rs10923445 1 116320833 [T/C] rs7418954 1 116331806 [T/C] rs12039739 1 116333111 [T/C] rs9428235 1 116333581 [T/G] rs4483405 1 116339269 [T/G] rs4453038 1 116347890 [T/C] rs2797180 1 116357354 [A/C] rs2797172 1 116361026 [T/C] exm2230865 1 116383333 [A/C] NM_001111061,NM_005599 NHLH2,NHLH2 EXON Silent,Silent rs2797208 1 116384580 [T/C] rs12033106 1 116394349 [A/G] rs4548442 1 116397910 [T/C] rs2096210 1 116401394 [T/C] rs1689121 1 116414789 [T/C] rs814987 1 116421457 [A/G] rs10754390 1 116426939 [T/C] rs12059640 1 116430415 [T/C] rs6656298 1 116432480 [T/C] rs1342722 1 116433182 [T/C] rs2797188 1 116433936 [A/G] rs1342718 1 116449903 [A/G] rs7512489 1 116466734 [A/C] NR_125969,NR_125970 LINC01649,LOC101928977 EXON Silent,Silent rs699748 1 116475843 [A/G] NR_125970 LOC101928977 Silent rs12568384 1 116478690 [A/G] NR_125970 LOC101928977 Silent rs699765 1 116496141 [T/G] NR_125970 LOC101928977 Silent rs699767 1 116499471 [A/G] NR_125970 LOC101928977 Silent rs1281688 1 116511075 [A/G] NR_125970 LOC101928977 Silent exm86891 1 116519313 [T/G] NR_125970,NM_018420 LOC101928977,SLC22A15 EXON Silent,Missense_F22C rs924277 1 116521057 [A/C] NM_018420 SLC22A15 Silent rs2488432 1 116527068 [A/G] NM_018420 SLC22A15 Silent exm86894 1 116534789 [A/G] NM_018420 SLC22A15 EXON Nonsense_W75X exm86895 1 116534797 [T/C] NM_018420 SLC22A15 EXON Missense_T78I exm86898 1 116534839 [C/G] NM_018420 SLC22A15 EXON Missense_S92T rs4046190 1 116534852 [T/C] NM_018420 SLC22A15 EXON Synonymous_S96S rs1565694 1 116553207 [T/G] NM_018420 SLC22A15 Silent kgp24950463 1 116562253 [T/C] NM_018420 SLC22A15 EXON Synonymous_F117F exm86906 1 116562272 [T/G] NM_018420 SLC22A15 EXON Missense_V124F exm86909 1 116562310 [C/G] NM_018420 SLC22A15 EXON Missense_F136L kgp25142261 1 116563463 [G/C] NM_018420 SLC22A15 EXON Synonymous_V185V rs2488429 1 116569530 [G/C] NM_018420 SLC22A15 EXON Synonymous_L205L exm86923 1 116569622 [T/C] NM_018420 SLC22A15 EXON Missense_T236M exm86925 1 116574034 [A/G] NM_018420 SLC22A15 EXON Missense_S259N variant.5865 1 116577807 [A/G] NM_018420 SLC22A15 Silent kgp24844846 1 116577857 [T/C] NM_018420 SLC22A15 EXON Synonymous_L332L exm1702984 1 116577879 [A/G] NM_018420 SLC22A15 EXON Missense_N339S kgp1092768 1 116577919 [T/A] NM_018420 SLC22A15 EXON Synonymous_P352P indel.5866 1 116577949 [I/D] NM_018420 SLC22A15 rs10923962 1 116581479 [A/G] NM_018420 SLC22A15 Silent rs10923969 1 116603622 [A/G] NM_018420 SLC22A15 Silent rs3748743 1 116605423 [T/C] NM_018420 SLC22A15 EXON Synonymous_S404S rs1281747 1 116607788 [A/C] NM_018420 SLC22A15 Silent rs1281745 1 116608903 [A/G] NM_018420 SLC22A15 Silent kgp8974229 1 116609185 [A/G] NM_018420 SLC22A15 EXON Synonymous_T470T exm86951 1 116609198 [A/G] NM_018420 SLC22A15 EXON Missense_G475S exm86956 1 116609280 [A/G] NM_018420 SLC22A15 EXON Missense_R502H indel.5867 1 116609320 [D/I] NM_018420 SLC22A15 EXON variant.5868 1 116609688 [T/G] NM_018420 SLC22A15 EXON Nonsense_E535X rs3748741 1 116609833 [A/G] NM_018420 SLC22A15 EXON Silent kgp24843301 1 116610173 [A/G] NM_018420 SLC22A15 EXON Silent rs1281744 1 116610227 [A/G] NM_018420 SLC22A15 EXON Silent rs1281743 1 116610388 [A/G] NM_018420 SLC22A15 EXON Silent exm2273332 1 116610388 [A/G] NM_018420 SLC22A15 EXON Silent kgp15247039 1 116611082 [T/C] NM_018420 SLC22A15 EXON Silent kgp1006432 1 116611112 [T/C] NM_018420 SLC22A15 EXON Silent kgp11173869 1 116611431 [A/G] NM_018420 SLC22A15 EXON Silent kgp11928599 1 116611548 [A/G] NM_018420 SLC22A15 EXON Silent kgp15714204 1 116611561 [A/C] NM_018420 SLC22A15 EXON Silent kgp25282050 1 116611697 [T/C] NM_018420 SLC22A15 EXON Silent kgp24766339 1 116611738 [A/G] NM_018420 SLC22A15 EXON Silent kgp7985193 1 116611991 [A/G] NM_018420 SLC22A15 EXON Silent kgp1191547 1 116612318 [A/G] NM_018420 SLC22A15 EXON Silent kgp10847070 1 116612459 [A/T] NM_018420 SLC22A15 EXON Silent rs2479373 1 116649821 [T/C] exm86965 1 116663566 [A/G] NM_152367 MAB21L3 EXON Missense_R21H exm86978 1 116666736 [T/C] NM_152367 MAB21L3 EXON Missense_A80V exm86993 1 116666907 [T/C] NM_152367 MAB21L3 EXON Missense_I137T exm86994 1 116666936 [T/C] NM_152367 MAB21L3 EXON Missense_R147W indel.5869 1 116666969 [I/D] NM_152367 MAB21L3 EXON newrs767833 1 116666978 [A/G] NM_152367 MAB21L3 EXON Missense_G161S exm86995 1 116670087 [A/G] NM_152367 MAB21L3 EXON Missense_G161D exm87010 1 116670770 [T/G] NM_152367 MAB21L3 EXON Missense_F222C exm87016 1 116670844 [T/G] NM_152367 MAB21L3 EXON Nonsense_E247X exm87018 1 116670871 [T/C] NM_152367 MAB21L3 EXON Missense_R256C exm87022 1 116670935 [T/C] NM_152367 MAB21L3 EXON Missense_P277L rs10923976 1 116674418 [A/G] NM_152367 MAB21L3 Silent exm87034 1 116675885 [T/C] NM_152367 MAB21L3 EXON Missense_R330W exm87037 1 116675909 [A/G] NM_152367 MAB21L3 EXON Missense_T338A rs10802159 1 116676035 [A/C] NM_152367 MAB21L3 EXON Silent rs6670668 1 116676548 [A/G] NM_152367 MAB21L3 EXON Silent rs10802162 1 116691120 [A/C] exm2249712 1 116716281 [T/C] rs6658845 1 116717619 [A/G] rs752457 1 116725740 [A/G] rs2208365 1 116733218 [A/C] rs1884989 1 116740195 [T/C] rs7548144 1 116764781 [A/G] rs10924002 1 116771069 [T/G] rs12125273 1 116776537 [T/C] rs6428885 1 116779318 [T/C] rs2184483 1 116795524 [A/G] rs4839524 1 116800201 [A/G] rs2184484 1 116801420 [A/G] rs6694434 1 116804727 [A/C] rs9428340 1 116807231 [T/G] rs4839061 1 116808177 [T/C] rs9428197 1 116812245 [A/G] rs12089467 1 116819325 [T/C] rs2335957 1 116821111 [T/C] rs4839532 1 116851932 [T/C] rs4839534 1 116859356 [T/C] rs6428895 1 116886230 [T/C] exm2268927 1 116887742 [T/C] rs7539947 1 116907359 [A/G] rs10924074 1 116921019 [A/G] NM_000701,NM_001160233 ATP1A1,ATP1A1 Silent,Silent rs12070283 1 116922853 [A/G] NM_000701,NM_001160233 ATP1A1,ATP1A1 Silent,Silent indel.5873 1 116926708 [D/I] NM_000701,NM_001160233,NM_001160234 ATP1A1,ATP1A1,ATP1A1 EXON rs12079419 1 116931628 [A/C] NM_000701,NM_001160233,NM_001160234 ATP1A1,ATP1A1,ATP1A1 EXON Synonymous_T247T,Synonymous_T247T,Synonymous_T216T exm87099 1 116937809 [A/G] NM_000701,NM_001160233,NM_001160234,NR_027646 ATP1A1,ATP1A1,ATP1A1,ATP1A1-AS1 EXON Missense_I580V,Missense_I580V,Missense_I549V,Silent exm87100 1 116937815 [A/G] NM_000701,NM_001160233,NM_001160234,NR_027646 ATP1A1,ATP1A1,ATP1A1,ATP1A1-AS1 EXON Missense_N582D,Missense_N582D,Missense_N551D,Silent variant.5876 1 116943887 [A/G] NM_000701,NM_001160233,NM_001160234,NR_027646,NR_027645 ATP1A1,ATP1A1,ATP1A1,ATP1A1-AS1,ATP1A1-AS1 Silent,Silent,Silent,Silent,Silent rs17035635 1 116965829 [T/C] rs17035658 1 116988030 [T/C] NR_125972 LINC01762 Silent rs12128828 1 116991956 [A/G] NR_125972 LINC01762 Silent rs6671978 1 117019614 [T/C] NR_125972,NR_125973 LINC01762,LINC01762 Silent,Silent rs1176386 1 117026156 [T/C] exm-rs12025416 1 117038287 [T/C] rs10924106 1 117053745 [T/C] rs1414275 1 117066907 [A/G] NR_026665,NM_001779,NM_001144822 CD58,CD58,CD58 Silent,Silent,Silent exm87175 1 117086941 [T/A] NR_026665,NM_001779,NM_001144822 CD58,CD58,CD58 EXON Silent,Missense_Y119F,Missense_Y119F exm1703172 1 117087019 [T/C] NR_026665,NM_001779,NM_001144822 CD58,CD58,CD58 EXON Silent,Missense_Y93C,Missense_Y93C exm2230872 1 117087167 [A/G] NR_026665,NM_001779,NM_001144822 CD58,CD58,CD58 EXON Silent,Missense_H44Y,Missense_H44Y exm87184 1 117087176 [T/C] NR_026665,NM_001779,NM_001144822 CD58,CD58,CD58 EXON Silent,Missense_V41I,Missense_V41I exm87187 1 117087208 [T/G] NR_026665,NM_001779,NM_001144822 CD58,CD58,CD58 EXON Silent,Missense_S30Y,Missense_S30Y exm-rs1335532 1 117100957 [A/G] NR_026665,NM_001779,NM_001144822 CD58,CD58,CD58 Silent,Silent,Silent exm-rs2300747 1 117104215 [A/G] NR_026665,NM_001779,NM_001144822 CD58,CD58,CD58 Silent,Silent,Silent exm87191 1 117113552 [T/C] NR_026665,NM_001779,NM_001144822 CD58,CD58,CD58 EXON Silent,Missense_S15G,Missense_S15G exm87199 1 117120134 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_V1129I,Missense_V1149I exm87205 1 117122064 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_R1095Q,Missense_R1115Q exm87208 1 117122130 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_Q1073R,Missense_Q1093R exm87217 1 117122281 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_D1023N,Missense_D1043N exm87226 1 117122355 [G/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_G998A,Missense_G1018A exm2230875 1 117127279 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_V946I,Missense_V966I exm87234 1 117127386 [A/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_V910G,Missense_V930G exm87235 1 117127393 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_V908M,Missense_V928M exm87236 1 117127410 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_R902H,Missense_R922H exm87238 1 117127417 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_V900M,Missense_V920M exm87246 1 117127644 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_G824E,Missense_G844E rs570440 1 117128172 [A/C] NM_001007237,NM_001542 IGSF3,IGSF3 Silent,Silent exm87268 1 117131588 [A/G] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_S723L,Missense_S743L exm87309 1 117142848 [A/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_W582G,Missense_W602G exm2230879 1 117150609 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_E393K,Missense_E393K exm2230882 1 117156651 [A/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Nonsense_E190X,Nonsense_E190X rs12750589 1 117164591 [A/G] NM_001007237,NM_001542 IGSF3,IGSF3 Silent,Silent rs606604 1 117199884 [A/C] NM_001007237,NM_001542 IGSF3,IGSF3 Silent,Silent rs1981183 1 117206336 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 Silent,Silent rs699703 1 117218615 [T/C] rs699706 1 117220931 [A/G] rs696663 1 117236379 [T/C] rs12127189 1 117243440 [T/C] NR_149353 C1orf137 Silent rs6428666 1 117255079 [T/C] rs6428667 1 117255270 [A/G] rs624988 1 117263790 [T/C] rs699727 1 117265154 [T/C] rs614448 1 117273577 [T/G] rs7540836 1 117287643 [T/C] rs797999 1 117293763 [T/G] exm87419 1 117297327 [C/G] NM_001767,NM_001328609 CD2,CD2 EXON Missense_P46A,Missense_P46A rs3136701 1 117299472 [G/C] NM_001767,NM_001328609 CD2,CD2 Silent,Silent exm87426 1 117303069 [T/C] NM_001767,NM_001328609 CD2,CD2 EXON Missense_T143I,Missense_T143I exm87433 1 117303227 [A/T] NM_001767,NM_001328609 CD2,CD2 EXON Missense_S196T,Missense_S196T exm2264894 1 117304100 [A/G] NM_001767,NM_001328609 CD2,CD2 Silent,Silent rs798037 1 117308238 [A/C] NM_001767,NM_001328609 CD2,CD2 Silent,Silent exm87443 1 117311147 [A/C] NM_001767,NM_001328609 CD2,CD2 EXON Missense_H266Q,Missense_H292Q exm87455 1 117311364 [A/C] NM_001767,NM_001328609 CD2,CD2 EXON Missense_H339N,Missense_H365N exm87458 1 117311389 [T/C] NM_001767,NM_001328609 CD2,CD2 EXON Missense_S347F,Missense_S373F exm87459 1 117311391 [T/C] NM_001767,NM_001328609 CD2,CD2 EXON Missense_P348S,Missense_P374S rs798029 1 117337524 [T/C] rs798023 1 117339802 [A/G] rs1182218 1 117361083 [T/C] rs6428670 1 117367190 [T/C] rs10494190 1 117392940 [A/G] rs17036392 1 117403821 [T/G] rs7368186 1 117437126 [T/C] exm2268928 1 117448282 [T/C] rs2182605 1 117463537 [T/C] NM_020440 PTGFRN Silent exm-rs2806864 1 117469781 [G/C] NM_020440 PTGFRN Silent rs17036591 1 117473419 [A/G] NM_020440 PTGFRN Silent rs2478766 1 117474229 [T/G] NM_020440 PTGFRN Silent rs4539125 1 117482765 [T/C] NM_020440 PTGFRN Silent exm87482 1 117487567 [A/G] NM_020440 PTGFRN EXON Missense_A229T exm87484 1 117487607 [A/G] NM_020440 PTGFRN EXON Missense_Q242R exm87485 1 117487613 [T/C] NM_020440 PTGFRN EXON Missense_S244F exm87487 1 117487679 [T/C] NM_020440 PTGFRN EXON Missense_A266V exm87506 1 117492009 [T/C] NM_020440 PTGFRN EXON Missense_S343L exm87507 1 117492067 [T/G] NM_020440 PTGFRN EXON Missense_D362E exm87508 1 117492122 [A/G] NM_020440 PTGFRN EXON Missense_G381R rs4128518 1 117494820 [T/C] NM_020440 PTGFRN Silent exm87515 1 117503940 [A/G] NM_020440 PTGFRN EXON Missense_R430Q exm87517 1 117503976 [A/G] NM_020440 PTGFRN EXON Missense_R442Q exm87524 1 117504056 [A/G] NM_020440 PTGFRN EXON Missense_G469R exm87526 1 117504129 [T/A] NM_020440 PTGFRN EXON Missense_E493V rs12024946 1 117508304 [T/C] NM_020440 PTGFRN Silent exm87533 1 117509534 [T/C] NM_020440 PTGFRN EXON Synonymous_D547D rs10801917 1 117510804 [A/G] NM_020440 PTGFRN Silent rs12096164 1 117512505 [T/C] NM_020440 PTGFRN Silent exm87549 1 117516858 [A/G] NM_020440 PTGFRN EXON Missense_V694M exm2249721 1 117516938 [T/G] NM_020440 PTGFRN EXON Synonymous_L720L rs12063648 1 117524022 [T/G] NM_020440 PTGFRN Silent exm87559 1 117527397 [A/G] NM_020440 PTGFRN EXON Missense_V755M exm87563 1 117527445 [A/G] NM_020440 PTGFRN EXON Missense_V771M exm87573 1 117529458 [A/G] NM_020440 PTGFRN EXON Missense_V837I rs3829881 1 117531813 [T/C] NM_020440 PTGFRN EXON Silent exm2264895 1 117531911 [A/G] NM_020440 PTGFRN EXON Silent rs4659051 1 117539373 [T/G] rs10494191 1 117544015 [A/C] indel.5881 1 117544454 [I/D] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON rs10494193 1 117544879 [T/C] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 Silent,Silent,Silent,Silent rs2806870 1 117547790 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 Silent,Silent,Silent,Silent rs2764850 1 117550623 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 Silent,Silent,Silent,Silent exm87582 1 117552529 [G/C] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_A34G,Missense_A34G,Missense_A34G,Missense_A34G exm87587 1 117552592 [T/A] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_H55L,Missense_H55L,Missense_H55L,Missense_H55L exm87588 1 117552637 [A/T] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_V70D,Missense_V70D,Missense_V70D,Missense_V70D exm2230888 1 117552639 [T/C] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Nonsense_Q71X,Nonsense_Q71X,Nonsense_Q71X,Nonsense_Q71X exm87589 1 117552675 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_A83T,Missense_A83T,Missense_A83T,Missense_A83T exm87593 1 117552727 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_Q100R,Missense_Q100R,Missense_Q100R,Missense_Q100R exm87597 1 117552805 [A/C] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_T126N,Missense_T126N,Missense_T126N,Missense_T126N exm87598 1 117552820 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_Y131C,Missense_Y131C,Missense_Y131C,Missense_Y131C exm87603 1 117554216 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Silent,Missense_G157S,Missense_G157S,Missense_G157S exm87605 1 117554352 [T/C] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Silent,Missense_S202F,Missense_S202F,Missense_S202F exm87609 1 117554421 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_N163S,Missense_N225S,Missense_N225S,Missense_N225S indel.5885 1 117554546 [I/D] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON exm87622 1 117556165 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_A265T,Missense_A327T,Missense_A327T,Missense_A327T exm87625 1 117556224 [A/T] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_S284R,Missense_S346R,Missense_S346R,Missense_S346R exm87628 1 117556271 [T/C] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_L300P,Missense_L362P,Missense_L362P,Missense_L362P exm87630 1 117556307 [T/C] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_A312V,Missense_A374V,Missense_A374V,Missense_A374V exm1703682 1 117559721 [T/C] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_V351A,Missense_V413A,Missense_V413A,Missense_V413A exm87640 1 117559726 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_M353V,Missense_M415V,Missense_M415V,Missense_M415V exm87645 1 117559837 [T/C] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_R390W,Missense_R452W,Missense_R452W,Missense_R452W exm87652 1 117559893 [T/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_Q408H,Missense_Q470H,Missense_Q470H,Missense_Q470H exm87657 1 117560036 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_R456Q,Missense_R518Q,Missense_R518Q,Missense_R518Q exm87658 1 117560058 [G/C] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_S463R,Missense_S525R,Missense_S525R,Missense_S525R exm1703688 1 117560779 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Synonymous_E476E,Synonymous_E538E,Synonymous_E538E,Synonymous_E538E exm87665 1 117560831 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_N494D,Missense_N556D,Missense_N556D,Missense_N556D exm2273680 1 117560898 [T/C] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_T516M,Missense_T578M,Missense_T578M,Missense_T578M rs3736907 1 117560929 [A/C] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Synonymous_I526I,Synonymous_I588I,Synonymous_I588I,Synonymous_I588I exm87674 1 117560990 [T/C] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_R547W,Missense_R609W,Missense_R609W,Missense_R609W exm87676 1 117561015 [T/C] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_S555L,Missense_S617L,Missense_S617L,Missense_S617L exm87677 1 117561030 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_R560H,Missense_R622H,Missense_R622H,Missense_R622H exm87683 1 117564288 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_N642S,Missense_N704S,Missense_N704S,Missense_N704S variant.5889 1 117564315 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Nonsense_W651X,Nonsense_W713X,Nonsense_W713X,Nonsense_W713X exm1703695 1 117564315 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Nonsense_W651X,Nonsense_W713X,Nonsense_W713X,Nonsense_W713X indel.5890 1 117564318 [I/D] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON exm87686 1 117564416 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_R685G,Missense_R747G,Missense_R747G,Missense_R747G exm87690 1 117564491 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258 CD101,CD101,CD101,CD101 EXON Missense_D710N,Missense_D772N,Missense_D772N,Missense_D772N indel.5892 1 117568146 [I/D] NM_001256111,NM_001256109,NM_001256106,NM_004258,NR_110786 CD101,CD101,CD101,CD101,LOC101929099 EXON exm87698 1 117568200 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258,NR_110786 CD101,CD101,CD101,CD101,LOC101929099 EXON Missense_R771H,Missense_R833H,Missense_R833H,Missense_R833H,Silent exm87699 1 117568202 [T/C] NM_001256111,NM_001256109,NM_001256106,NM_004258,NR_110786 CD101,CD101,CD101,CD101,LOC101929099 EXON Missense_C772R,Missense_C834R,Missense_C834R,Missense_C834R,Silent exm87701 1 117568217 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258,NR_110786 CD101,CD101,CD101,CD101,LOC101929099 EXON Missense_V777I,Missense_V839I,Missense_V839I,Missense_V839I,Silent exm87704 1 117568358 [T/C] NM_001256111,NM_001256109,NM_001256106,NM_004258,NR_110786 CD101,CD101,CD101,CD101,LOC101929099 EXON Missense_R824C,Missense_R886C,Missense_R886C,Missense_R886C,Silent exm87711 1 117568500 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258,NR_110786 CD101,CD101,CD101,CD101,LOC101929099 EXON Missense_R871Q,Missense_R933Q,Missense_R933Q,Missense_R933Q,Silent exm1703701 1 117568514 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258,NR_110786 CD101,CD101,CD101,CD101,LOC101929099 EXON Missense_V876M,Missense_V938M,Missense_V938M,Missense_V938M,Silent rs3767780 1 117574023 [A/C] NM_001256111,NM_001256109,NM_001256106,NM_004258,NR_110786 CD101,CD101,CD101,CD101,LOC101929099 Silent,Silent,Silent,Silent,Silent exm87717 1 117576522 [A/T] NM_001256111,NM_001256109,NM_001256106,NM_004258,NR_110786 CD101,CD101,CD101,CD101,LOC101929099 EXON Missense_L893F,Missense_L955F,Missense_L955F,Missense_L955F,Silent exm87719 1 117576544 [C/G] NM_001256111,NM_001256109,NM_001256106,NM_004258,NR_110786 CD101,CD101,CD101,CD101,LOC101929099 EXON Missense_P901A,Missense_P963A,Missense_P963A,Missense_P963A,Silent exm87720 1 117576550 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258,NR_110786 CD101,CD101,CD101,CD101,LOC101929099 EXON Missense_V903I,Missense_V965I,Missense_V965I,Missense_V965I,Silent exm87724 1 117576619 [T/C] NM_001256111,NM_001256109,NM_001256106,NM_004258,NR_110786 CD101,CD101,CD101,CD101,LOC101929099 EXON Missense_R926C,Missense_R988C,Missense_R988C,Missense_R988C,Silent exm87725 1 117576631 [T/C] NM_001256111,NM_001256109,NM_001256106,NM_004258,NR_110786 CD101,CD101,CD101,CD101,LOC101929099 EXON Missense_R930W,Missense_R992W,Missense_R992W,Missense_R992W,Silent exm87728 1 117576679 [A/G] NM_001256111,NM_001256109,NM_001256106,NM_004258,NR_110786 CD101,CD101,CD101,CD101,LOC101929099 EXON Missense_T946A,Missense_T1008A,Missense_T1008A,Missense_T1008A,Silent rs12121509 1 117582373 [A/G] NR_110786 LOC101929099 Silent rs2764862 1 117599054 [A/C] NR_110786 LOC101929099 Silent rs2477725 1 117600045 [A/C] NR_110786 LOC101929099 Silent exm87738 1 117603083 [T/C] NM_003594 TTF2 EXON Missense_F12S exm87741 1 117603131 [A/G] NM_003594 TTF2 EXON Missense_S28N exm2249723 1 117603156 [T/G] NM_003594 TTF2 EXON Synonymous_T36T rs2274253 1 117603156 [T/G] NM_003594 TTF2 EXON Synonymous_T36T variant.5896 1 117605100 [T/G] NM_003594 TTF2 Silent rs1289675 1 117615935 [A/G] NM_003594 TTF2 Silent exm87757 1 117617598 [A/G] NM_003594 TTF2 EXON Missense_K131R exm1703716 1 117617684 [A/G] NM_003594 TTF2 EXON Missense_D160N exm2230894 1 117617687 [C/G] NM_003594 TTF2 EXON Missense_Q161E rs998532 1 117617705 [A/G] NM_003594 TTF2 EXON Missense_K167E exm87762 1 117617705 [A/G] NM_003594 TTF2 EXON Missense_K167E indel.5899 1 117617773 [I/D] NM_003594 TTF2 EXON exm87767 1 117617844 [A/G] NM_003594 TTF2 EXON Missense_K213R exm87773 1 117617973 [A/G] NM_003594 TTF2 EXON Missense_E256G exm87775 1 117618024 [C/G] NM_003594 TTF2 EXON Missense_S273T exm87780 1 117618206 [T/C] NM_003594 TTF2 EXON Missense_P334S exm87781 1 117618235 [C/G] NM_003594 TTF2 EXON Missense_E343D exm87783 1 117618263 [A/G] NM_003594 TTF2 EXON Missense_D353N var_1_117618309 1 117618310 [D/I] NM_003594 TTF2 EXON exm87784 1 117618311 [T/C] NM_003594 TTF2 EXON Missense_P369S exm87788 1 117618443 [T/C] NM_003594 TTF2 EXON Missense_R413W exm87798 1 117619355 [T/C] NM_003594 TTF2 EXON Missense_L495F exm87799 1 117619362 [A/G] NM_003594 TTF2 EXON Missense_R497H exm87800 1 117619365 [A/G] NM_003594 TTF2 EXON Missense_R498H exm87801 1 117619377 [G/C] NM_003594 TTF2 EXON Missense_P502R exm1703727 1 117620540 [A/C] NM_003594 TTF2 EXON Missense_H526N newrs150482379 1 117620549 [T/C] NM_003594 TTF2 EXON Nonsense_Q529X exm87806 1 117620553 [A/G] NM_003594 TTF2 EXON Missense_D530G exm87807 1 117620574 [A/G] NM_003594 TTF2 EXON Missense_K537R exm1703730 1 117620606 [T/C] NM_003594 TTF2 EXON Missense_R548C exm87808 1 117620607 [A/G] NM_003594 TTF2 EXON Missense_R548H exm87810 1 117620632 [T/G] NM_003594 TTF2 EXON Missense_E556D rs3767767 1 117621281 [T/G] NM_003594 TTF2 Silent exm87817 1 117622238 [T/C] NM_003594 TTF2 EXON Nonsense_R584X exm87824 1 117624467 [A/G] NM_003594 TTF2 EXON Missense_G601R exm87830 1 117626751 [A/G] NM_003594 TTF2 EXON Missense_Y672C exm87831 1 117626760 [A/G] NM_003594 TTF2 EXON Missense_H675R exm1703735 1 117626781 [A/G] NM_003594 TTF2 EXON Missense_R682H exm87838 1 117629103 [A/C] NM_003594 TTF2 EXON Missense_K707Q variant.5908 1 117631444 [T/C] NM_003594 TTF2 EXON Nonsense_R728X exm87841 1 117631450 [T/G] NM_003594 TTF2 EXON Missense_A730S exm87843 1 117631471 [A/G] NM_003594 TTF2 EXON Missense_D737N exm87852 1 117633170 [A/G] NM_003594 TTF2 EXON Missense_R838H exm87863 1 117634507 [A/G] NM_003594 TTF2 EXON Missense_V914I var_1_117634572 1 117634572 [A/G] NM_003594 TTF2 EXON Synonymous_S935S exm87870 1 117635401 [A/G] NM_003594 TTF2 EXON Missense_E952K exm87871 1 117635413 [A/G] NM_003594 TTF2 EXON Missense_S956G indel.5910 1 117635449 [I/D] NM_003594 TTF2 EXON exm87873 1 117635449 [T/C] NM_003594 TTF2 EXON Missense_P968S exm87878 1 117635504 [A/G] NM_003594 TTF2 EXON Missense_G986D exm87879 1 117635507 [T/C] NM_003594 TTF2 EXON Missense_M987T newrs145988111 1 117635509 [T/C] NM_003594 TTF2 EXON Nonsense_R988X exm87888 1 117637990 [A/G] NM_003594 TTF2 Silent exm87893 1 117638841 [T/G] NM_003594 TTF2 EXON Missense_Y1036D exm87896 1 117638853 [A/G] NM_003594 TTF2 EXON Missense_D1040N indel.5914 1 117640034 [I/D] NM_003594 TTF2 EXON rs1289663 1 117643482 [T/C] NM_003594 TTF2 Silent exm87911 1 117644038 [A/T] NM_003594 TTF2 EXON Missense_L1127F 1KG_1_117644041 1 117644041 [D/I] NM_003594 TTF2 EXON exm87913 1 117644058 [A/G] NM_003594 TTF2 EXON Missense_K1134R exm87915 1 117644074 [A/C] NM_003594 TTF2 EXON Missense_Q1139H exm87917 1 117644120 [G/C] NM_003594 TTF2 EXON Missense_D1155H indel.5916 1 117644185 [I/D] NM_003594 TTF2 EXON exm87939 1 117656026 [T/C] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_G517R,Missense_G499R exm87940 1 117656029 [T/C] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_S516G,Missense_S498G exm87942 1 117656065 [A/G] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_H504Y,Missense_H486Y exm87945 1 117656088 [A/G] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_M496T,Missense_M478T exm87946 1 117658229 [T/C] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_V479M,Missense_V461M indel.5919 1 117658251 [D/I] NM_025188,NM_001145635 TRIM45,TRIM45 EXON exm87954 1 117659275 [T/C] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_V439I,Missense_V421I exm87955 1 117659283 [T/C] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_G436E,Missense_G418E exm87956 1 117659292 [T/C] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_G433D,Missense_G415D exm87958 1 117659352 [T/C] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_R413Q,Missense_R395Q exm87959 1 117659353 [A/G] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_R413W,Missense_R395W variant.5922 1 117659369 [T/C] NM_025188,NM_001145635 TRIM45,TRIM45 Silent,Silent newrs117308167 1 117660705 [T/C] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Synonymous_T391T,Silent exm87965 1 117660754 [T/C] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_C375Y,Missense_C375Y exm87967 1 117660820 [T/C] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_R353Q,Missense_R353Q exm87968 1 117660839 [T/C] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_K347E,Missense_K347E exm87969 1 117660863 [A/G] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_S339P,Missense_S339P exm87970 1 117660868 [T/C] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_S337N,Missense_S337N exm87974 1 117661003 [T/C] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_R292Q,Missense_R292Q exm87981 1 117661312 [T/A] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_I189N,Missense_I189N exm87984 1 117661333 [T/C] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_Y182C,Missense_Y182C exm87986 1 117661378 [T/C] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_K167R,Missense_K167R exm87993 1 117663561 [T/G] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Nonsense_S88X,Nonsense_S88X exm88001 1 117663711 [A/G] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_A38V,Missense_A38V exm88007 1 117663748 [T/C] NM_025188,NM_001145635 TRIM45,TRIM45 EXON Missense_K26E,Missense_K26E indel.5929 1 117663809 [D/I] NM_025188,NM_001145635 TRIM45,TRIM45 EXON rs1342735 1 117674749 [T/C] rs4659126 1 117675943 [T/C] variant.5930 1 117690406 [T/C] NM_024626,NM_001253849,NR_045604,NR_045603,NM_001253850 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent,Silent exm88018 1 117695862 [A/G] NM_024626,NM_001253849,NR_045604,NR_045603,NM_001253850 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Missense_S192L,Missense_S97L,Silent,Silent,Missense_S76L exm2230897 1 117695878 [T/G] NM_024626,NM_001253849,NR_045604,NR_045603,NM_001253850 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Missense_Q187K,Missense_Q92K,Silent,Silent,Missense_Q71K exm1703815 1 117695961 [T/G] NM_024626,NM_001253849,NR_045604,NR_045603,NM_001253850 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Missense_Y159S,Missense_Y64S,Silent,Silent,Missense_Y43S exm1703816 1 117699207 [T/C] NM_024626,NM_001253849,NR_045604,NR_045603,NM_001253850 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Missense_Y145C,Missense_Y50C,Silent,Silent,Silent exm88023 1 117699223 [T/G] NM_024626,NM_001253849,NR_045604,NR_045603,NM_001253850 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Missense_N140H,Missense_N45H,Silent,Silent,Silent exm2273681 1 117699283 [C/G] NM_024626,NM_001253849,NR_045604,NR_045603,NM_001253850 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Missense_V120L,Missense_V25L,Silent,Silent,Silent exm88035 1 117699514 [T/C] NM_024626,NM_001253849,NR_045604,NR_045603,NM_001253850 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Missense_A43T,Silent,Silent,Silent,Silent rs6657810 1 117715026 [T/C] NM_024626,NM_001253849,NR_045604,NR_045603,NM_001253850 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent,Silent rs6428686 1 117718797 [A/G] NM_024626,NM_001253849,NR_045604,NR_045603,NM_001253850 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent,Silent rs10047089 1 117728652 [A/G] NM_024626,NM_001253849,NR_045604,NR_045603,NM_001253850 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent,Silent rs4659190 1 117737486 [A/G] NM_024626,NM_001253849,NR_045604,NR_045603,NM_001253850 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent,Silent rs1935780 1 117738637 [A/G] NM_024626,NM_001253849,NR_045604,NR_045603,NM_001253850 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent,Silent rs6674646 1 117749809 [T/C] NM_024626,NR_045604,NR_045603,NM_001253850 VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent exm-rs12046117 1 117751365 [T/C] NM_024626,NR_045604,NR_045603,NM_001253850 VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent rs10923229 1 117752498 [A/G] NM_024626,NR_045604,NR_045603,NM_001253850 VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent rs1892409 1 117759325 [T/C] rs10923243 1 117767918 [A/G] rs6692758 1 117773202 [A/G] rs1342738 1 117789283 [A/G] rs1418451 1 117796932 [T/G] rs1146277 1 117804267 [A/C] rs7536105 1 117818054 [T/C] rs1146291 1 117820117 [T/C] rs12135026 1 117826699 [A/G] rs1877465 1 117844251 [A/G] NR_126408 LINC01525 Silent rs1707113 1 117872629 [A/G] rs17037149 1 117883834 [A/G] rs12096823 1 117884055 [T/C] rs3767794 1 117939774 [A/G] NM_006699 MAN1A2 Silent rs1289941 1 117944732 [A/C] NM_006699 MAN1A2 Silent exm88061 1 117944964 [A/C] NM_006699 MAN1A2 EXON Missense_N153K rs3767795 1 117945220 [T/C] NM_006699 MAN1A2 Silent rs10923297 1 117983815 [A/G] NM_006699 MAN1A2 Silent indel.5933 1 117984952 [D/I] NM_006699 MAN1A2 rs4659050 1 117989275 [A/G] NM_006699 MAN1A2 Silent exm88074 1 118003190 [A/C] NM_006699 MAN1A2 EXON Missense_I344L rs1290541 1 118030256 [T/G] NM_006699 MAN1A2 Silent exm88082 1 118035850 [A/G] NM_006699 MAN1A2 EXON Missense_H417R exm88089 1 118039575 [A/G] NM_006699 MAN1A2 EXON Missense_R492H exm88093 1 118042046 [A/T] NM_006699 MAN1A2 EXON Missense_V516E rs3767802 1 118042757 [A/C] NM_006699 MAN1A2 Silent exm88102 1 118065541 [A/G] NM_006699 MAN1A2 EXON Missense_A630T rs10801963 1 118072302 [A/G] rs2767319 1 118075647 [A/G] rs2767323 1 118087384 [A/G] rs3795657 1 118087449 [A/G] rs4261104 1 118119534 [T/C] rs12032624 1 118131205 [T/C] rs320348 1 118133639 [T/C] rs12037710 1 118139031 [A/G] rs10923351 1 118141764 [A/C] NR_121626 LOC100996263 Silent rs2576570 1 118147675 [A/C] NR_121626 LOC100996263 Silent rs3767812 1 118155620 [A/G] NM_017709 TENT5C Silent rs860395 1 118163457 [T/C] NM_017709 TENT5C Silent exm88111 1 118165536 [A/G] NM_017709 TENT5C EXON Missense_V16M exm88113 1 118165603 [A/G] NM_017709 TENT5C EXON Missense_R38Q exm88123 1 118165936 [T/C] NM_017709 TENT5C EXON Missense_T149I exm88137 1 118166331 [A/G] NM_017709 TENT5C EXON Missense_I281V exm88138 1 118166379 [A/G] NM_017709 TENT5C EXON Missense_A297T exm88139 1 118166385 [A/G] NM_017709 TENT5C EXON Missense_E299K exm2249728 1 118166402 [T/C] NM_017709 TENT5C EXON Synonymous_Y304Y exm88147 1 118166547 [A/G] NM_017709 TENT5C EXON Missense_V353I rs826403 1 118167199 [A/G] NM_017709 TENT5C EXON Silent rs11581122 1 118168826 [T/C] NM_017709 TENT5C EXON Silent rs2282456 1 118169463 [A/G] NM_017709 TENT5C EXON Silent rs1808806 1 118174222 [A/G] rs422484 1 118182628 [A/C] rs10923367 1 118189080 [T/C] rs12725245 1 118189519 [T/C] rs319501 1 118192953 [A/G] rs11588056 1 118208245 [A/C] rs7520590 1 118214719 [T/G] rs7544119 1 118215086 [A/C] rs12116919 1 118219568 [T/C] rs6681882 1 118224778 [A/G] rs6682090 1 118225006 [T/G] rs7529721 1 118230466 [T/C] rs1891556 1 118242864 [A/G] rs12735195 1 118244639 [A/G] exm2268744 1 118249041 [T/C] rs1812607 1 118253295 [T/C] rs2002747 1 118255058 [A/G] rs1419369 1 118276152 [A/G] rs4659339 1 118281822 [A/C] rs319486 1 118283890 [A/G] rs319464 1 118293093 [A/G] rs12145990 1 118294476 [T/C] rs12731636 1 118296638 [T/G] rs12096202 1 118300436 [A/G] rs1780041 1 118327587 [T/C] rs10923424 1 118337206 [T/C] rs11805137 1 118338453 [T/C] rs7412527 1 118355412 [T/G] rs720162 1 118369833 [T/G] rs6681593 1 118377788 [T/C] indel.5936 1 118420607 [D/I] NM_017686,NM_001135589 GDAP2,GDAP2 EXON exm88161 1 118420768 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_T437A,Missense_T437A rs12058607 1 118421109 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 Silent,Silent variant.5937 1 118426108 [A/C] NM_017686,NM_001135589 GDAP2,GDAP2 Silent,Silent exm88172 1 118426147 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_D404N,Missense_D404N variant.5939 1 118429258 [A/G] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Nonsense_R350X,Nonsense_R350X newrs141678357 1 118430319 [A/C] NM_017686,NM_001135589 GDAP2,GDAP2 Silent,Silent exm88177 1 118430343 [A/G] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_S336F,Missense_S336F variant.5941 1 118441674 [A/C] NM_017686,NM_001135589 GDAP2,GDAP2 Silent,Silent variant.5942 1 118441718 [A/G] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Nonsense_R253X,Nonsense_R253X exm1704212 1 118441771 [A/G] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_P235L,Missense_P235L exm88192 1 118441837 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_G213D,Missense_G213D variant.5943 1 118449127 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 Silent,Silent exm88194 1 118449203 [C/G] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Synonymous_R187R,Synonymous_R187R variant.5944 1 118454616 [A/G] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_R187C,Missense_R187C exm88198 1 118454694 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_M161V,Missense_M161V exm88200 1 118455194 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_S143N,Missense_S143N exm88201 1 118455215 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_R136H,Missense_R136H exm88204 1 118461225 [A/G] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_L104F,Missense_L104F exm2249732 1 118462915 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Synonymous_S22S,Synonymous_S22S indel.5945 1 118476019 [I/D] NM_006784 WDR3 EXON exm88226 1 118476052 [A/G] NM_006784 WDR3 EXON Missense_R37H indel.5946 1 118477162 [I/D] NM_006784 WDR3 EXON exm88230 1 118477235 [A/G] NM_006784 WDR3 EXON Missense_N104S variant.5947 1 118479485 [T/C] NM_006784 WDR3 EXON Nonsense_R159X rs10923448 1 118480591 [T/C] NM_006784 WDR3 Silent exm88246 1 118481173 [T/C] NM_006784 WDR3 EXON Missense_R191W rs7515738 1 118481581 [T/C] NM_006784 WDR3 Silent exm88253 1 118483460 [T/C] NM_006784 WDR3 EXON Missense_P229L exm88255 1 118483474 [C/G] NM_006784 WDR3 EXON Missense_P234A exm88257 1 118483544 [T/C] NM_006784 WDR3 EXON Missense_T257M exm88260 1 118483748 [A/G] NM_006784 WDR3 EXON Missense_R264Q exm88262 1 118483784 [A/G] NM_006784 WDR3 EXON Missense_R276Q 1KG_1_118486040 1 118486040 [D/I] NM_006784 WDR3 EXON exm88273 1 118486119 [A/G] NM_006784 WDR3 EXON Missense_T400A exm88283 1 118488735 [T/C] NM_006784 WDR3 EXON Missense_M452T exm88289 1 118491052 [T/G] NM_006784 WDR3 EXON Missense_L483V variant.5950 1 118491130 [A/G] NM_006784 WDR3 Silent variant.5951 1 118492637 [T/C] NM_006784 WDR3 EXON Nonsense_R544X exm88305 1 118492739 [A/G] NM_006784 WDR3 EXON Missense_V578I newrs149832695 1 118494704 [A/G] NM_006784 WDR3 Silent variant.5953 1 118494933 [T/C] NM_006784 WDR3 EXON Nonsense_Q640X variant.5954 1 118495036 [A/C] NM_006784 WDR3 Silent indel.5956 1 118497212 [D/I] NM_006784,NM_206996 WDR3,SPAG17 EXON exm88341 1 118499801 [T/G] NM_006784,NM_206996 WDR3,SPAG17 EXON Missense_C855F,Silent exm88342 1 118499820 [A/G] NM_006784,NM_206996 WDR3,SPAG17 Silent,Silent indel.5960 1 118502013 [I/D] NM_006784,NM_206996 WDR3,SPAG17 EXON exm2249734 1 118504265 [T/G] NM_206996 SPAG17 Silent exm88358 1 118506432 [A/G] NM_206996 SPAG17 EXON Missense_S2221F exm88359 1 118506438 [T/G] NM_206996 SPAG17 EXON Missense_K2219T exm88360 1 118506441 [T/C] NM_206996 SPAG17 EXON Missense_R2218H indel.5961 1 118506524 [I/D] NM_206996 SPAG17 EXON exm88364 1 118506531 [T/C] NM_206996 SPAG17 EXON Missense_R2188Q newrs137887712 1 118506539 [A/C] NM_206996 SPAG17 EXON Nonsense_Y2185X variant.5965 1 118509256 [T/C] NM_206996 SPAG17 EXON Missense_V2170I exm88370 1 118509284 [T/G] NM_206996 SPAG17 EXON Missense_H2160Q exm88371 1 118509289 [T/A] NM_206996 SPAG17 EXON Missense_S2159T exm88372 1 118509366 [T/C] NM_206996 SPAG17 EXON Missense_G2133D exm88376 1 118512719 [T/G] NM_206996 SPAG17 EXON Missense_P2116Q var_1_118514671 1 118514671 [T/C] NM_206996 SPAG17 Silent exm88387 1 118516082 [A/T] NM_206996 SPAG17 EXON Missense_L2036Q exm88395 1 118516181 [C/G] NM_206996 SPAG17 EXON Missense_A2003G rs1409055 1 118520042 [T/C] NM_206996 SPAG17 Silent exm2259741 1 118522545 [A/G] NM_206996 SPAG17 Silent exm88397 1 118523919 [A/G] NM_206996 SPAG17 EXON Missense_T1993I exm88409 1 118527339 [T/A] NM_206996 SPAG17 EXON Missense_F1912L rs10923457 1 118530065 [T/C] NM_206996 SPAG17 Silent exm1704353 1 118530457 [G/C] NM_206996 SPAG17 EXON Missense_R1890T exm88422 1 118534043 [A/C] NM_206996 SPAG17 EXON Missense_V1824F exm88425 1 118534138 [T/C] NM_206996 SPAG17 EXON Missense_Y1792C exm88431 1 118535211 [T/C] NM_206996 SPAG17 EXON Missense_K1747E exm88432 1 118535216 [T/G] NM_206996 SPAG17 EXON Missense_E1745A rs12031260 1 118537074 [A/G] NM_206996 SPAG17 EXON Synonymous_P1711P exm88438 1 118537076 [A/G] NM_206996 SPAG17 EXON Missense_P1711S exm88440 1 118537142 [T/C] NM_206996 SPAG17 EXON Missense_I1689V newrs140829839 1 118538991 [A/C] NM_206996 SPAG17 Silent exm88444 1 118539079 [T/C] NM_206996 SPAG17 EXON Missense_R1656Q exm88448 1 118539252 [A/G] NM_206996 SPAG17 EXON Missense_H1631Y exm88455 1 118548044 [T/G] NM_206996 SPAG17 EXON Missense_T1590N exm88460 1 118548146 [A/G] NM_206996 SPAG17 EXON Missense_I1556T exm88466 1 118550765 [A/G] NM_206996 SPAG17 EXON Missense_R1497C exm88469 1 118550820 [A/G] NM_206996 SPAG17 EXON Synonymous_T1478T exm88478 1 118554982 [T/C] NM_206996 SPAG17 EXON Missense_R1434Q variant.5970 1 118554983 [A/G] NM_206996 SPAG17 EXON Nonsense_R1434X exm88479 1 118558595 [T/C] NM_206996 SPAG17 EXON Missense_N1427S exm2273682 1 118558707 [T/C] NM_206996 SPAG17 EXON Missense_I1390V indel.5971 1 118558800 [I/D] NM_206996 SPAG17 EXON variant.5972 1 118565922 [T/G] NM_206996 SPAG17 Silent exm88493 1 118565953 [A/G] NM_206996 SPAG17 EXON Missense_P1348L exm88496 1 118567865 [T/G] NM_206996 SPAG17 EXON Missense_T1302K exm88505 1 118567982 [T/G] NM_206996 SPAG17 EXON Missense_P1263H exm88506 1 118568010 [T/A] NM_206996 SPAG17 EXON Missense_W1254R variant.5973 1 118574310 [T/G] NM_206996 SPAG17 Silent exm88511 1 118574322 [A/T] NM_206996 SPAG17 EXON Missense_E1201V exm88516 1 118574439 [A/G] NM_206996 SPAG17 EXON Missense_T1162I rs6428727 1 118575757 [T/C] NM_206996 SPAG17 Silent variant.5974 1 118579433 [T/G] NM_206996 SPAG17 EXON Nonsense_C1131X exm88522 1 118579488 [T/C] NM_206996 SPAG17 EXON Missense_N1113S exm88524 1 118581916 [T/C] NM_206996 SPAG17 EXON Synonymous_T1106T indel.5976 1 118581927 [I/D] NM_206996 SPAG17 EXON exm88536 1 118583458 [T/C] NM_206996 SPAG17 EXON Missense_G1021R exm88540 1 118584458 [T/G] NM_206996 SPAG17 EXON Missense_P1008T exm88545 1 118584562 [T/C] NM_206996 SPAG17 EXON Missense_D973G exm88548 1 118584626 [A/G] NM_206996 SPAG17 EXON Missense_R952C exm2273683 1 118584643 [A/C] NM_206996 SPAG17 EXON Missense_R946L exm88550 1 118584644 [A/G] NM_206996 SPAG17 EXON Nonsense_R946X exm88553 1 118598362 [A/G] NM_206996 SPAG17 EXON Missense_S906P exm88556 1 118598415 [T/G] NM_206996 SPAG17 EXON Missense_S888Y exm88557 1 118598452 [T/C] NM_206996 SPAG17 EXON Missense_K876E variant.5980 1 118609367 [A/C] NM_206996 SPAG17 Silent exm88562 1 118609491 [A/C] NM_206996 SPAG17 EXON Missense_C806F variant.5981 1 118616476 [T/C] NM_206996 SPAG17 Silent exm88567 1 118617192 [A/C] NM_206996 SPAG17 EXON Missense_D747E exm88568 1 118617217 [G/C] NM_206996 SPAG17 EXON Missense_T739S rs1935993 1 118617274 [T/C] NM_206996 SPAG17 Silent rs6428729 1 118623055 [A/G] NM_206996 SPAG17 Silent variant.5983 1 118624239 [A/G] NM_206996 SPAG17 EXON Nonsense_R597X exm88590 1 118628623 [C/G] NM_206996 SPAG17 EXON Missense_Q562E variant.5984 1 118628662 [A/G] NM_206996 SPAG17 EXON Nonsense_Q549X variant.5985 1 118629489 [T/C] NM_206996 SPAG17 Silent indel.5986 1 118629493 [D/I] NM_206996 SPAG17 exm88599 1 118629525 [C/G] NM_206996 SPAG17 EXON Missense_P489R exm88603 1 118629592 [A/G] NM_206996 SPAG17 EXON Missense_R467W exm88606 1 118629607 [T/C] NM_206996 SPAG17 EXON Missense_V462I exm88611 1 118634278 [T/C] NM_206996 SPAG17 EXON Missense_R437Q variant.5988 1 118634279 [A/G] NM_206996 SPAG17 EXON Nonsense_R437X exm88612 1 118634282 [T/C] NM_206996 SPAG17 EXON Missense_I436V exm88613 1 118634297 [A/C] NM_206996 SPAG17 EXON Missense_Y431D variant.5989 1 118634548 [T/C] NM_206996 SPAG17 Silent variant.5990 1 118634619 [A/G] NM_206996 SPAG17 EXON Nonsense_Q394X exm88634 1 118642395 [A/T] NM_206996 SPAG17 EXON Missense_H221Q exm88635 1 118642421 [T/C] NM_206996 SPAG17 EXON Missense_D213N exm88637 1 118644374 [T/C] NM_206996 SPAG17 EXON Missense_N208S exm88639 1 118644414 [T/G] NM_206996 SPAG17 EXON Missense_T195P exm-rs10754367 1 118644430 [A/G] NM_206996 SPAG17 EXON Synonymous_N189N exm88646 1 118644524 [A/T] NM_206996 SPAG17 EXON Missense_E158V exm88649 1 118657952 [T/C] NM_206996 SPAG17 EXON Missense_R143Q rs17257729 1 118678953 [T/C] NM_206996 SPAG17 Silent rs2153978 1 118702287 [A/G] NM_206996 SPAG17 Silent exm88656 1 118727698 [T/C] NM_206996 SPAG17 EXON Missense_N28S exm88658 1 118727720 [A/C] NM_206996 SPAG17 EXON Missense_S21A rs10923507 1 118731761 [T/C] rs1782414 1 118739301 [A/C] rs4411121 1 118757034 [T/C] rs6667043 1 118760171 [A/C] rs7553660 1 118784987 [T/C] rs1938263 1 118796804 [A/G] rs9661113 1 118799439 [T/C] rs12092268 1 118835195 [A/G] exm-rs9428104 1 118855587 [A/G] rs9428109 1 118859049 [T/G] rs17038164 1 118862669 [T/C] rs17038170 1 118863787 [A/G] rs4375253 1 118864968 [T/C] exm-rs17038182 1 118868405 [C/G] rs6690477 1 118869933 [A/G] exm-rs12735613 1 118883973 [A/G] rs2474946 1 118884512 [T/C] rs6428742 1 118889632 [T/C] rs7535961 1 118889815 [T/C] rs2474937 1 118902978 [A/G] rs10923556 1 118903196 [T/C] rs2145419 1 118938522 [T/C] rs17038273 1 118953104 [T/G] rs17038298 1 118971450 [A/G] rs1229137 1 118973742 [T/C] rs1146349 1 118975209 [A/G] rs10489731 1 118986187 [A/C] rs1146336 1 118987888 [T/C] rs1419056 1 119002896 [A/C] rs1213983 1 119007709 [T/C] rs1146320 1 119016240 [A/C] exm2263834 1 119016240 [A/C] rs17038321 1 119029083 [A/C] rs1324727 1 119029958 [A/G] exm-rs10923574 1 119030698 [A/C] rs12408596 1 119034534 [T/C] rs1213989 1 119048181 [T/G] rs1830853 1 119069110 [T/C] rs17021936 1 119071421 [A/G] rs1213884 1 119074219 [A/C] rs6428751 1 119079566 [A/G] rs1324720 1 119081459 [T/G] rs4659102 1 119095273 [A/C] rs1343301 1 119104373 [A/G] rs10802043 1 119117167 [T/C] rs2798445 1 119129814 [T/C] rs1911167 1 119142209 [T/C] rs12567490 1 119142911 [T/C] rs2884876 1 119153514 [A/G] rs1742854 1 119157211 [T/G] rs7542082 1 119160266 [T/C] rs1228985 1 119161408 [A/G] rs1701970 1 119168450 [T/C] rs2360627 1 119188329 [T/C] rs10923640 1 119189778 [A/G] rs1213850 1 119202269 [T/C] rs1213852 1 119203789 [T/C] rs7536520 1 119224268 [A/C] rs6681784 1 119229224 [A/G] exm2259744 1 119234198 [T/C] rs2755140 1 119253426 [A/C] rs6692676 1 119259262 [A/G] rs1961171 1 119277851 [T/C] rs10923662 1 119289072 [A/C] rs17022390 1 119292887 [A/C] rs2764473 1 119300747 [T/C] rs9787392 1 119300941 [A/G] rs1408854 1 119310008 [T/C] rs4659120 1 119319805 [A/G] kgp8623201 1 119329378 [A/G] rs12566190 1 119331023 [A/G] rs1779415 1 119380513 [A/G] rs1766803 1 119383818 [T/C] rs17185873 1 119409085 [A/G] rs1361209 1 119414648 [A/G] exm88670 1 119427467 [A/C] NM_001330677,NM_152380 TBX15,TBX15 EXON Missense_M566R,Missense_M460R exm88680 1 119427687 [G/C] NM_001330677,NM_152380 TBX15,TBX15 EXON Missense_P493A,Missense_P387A exm88686 1 119427839 [T/C] NM_001330677,NM_152380 TBX15,TBX15 EXON Missense_R442K,Missense_R336K rs10923694 1 119431014 [T/C] NM_001330677,NM_152380 TBX15,TBX15 Silent,Silent rs6655966 1 119433518 [A/G] NM_001330677,NM_152380 TBX15,TBX15 Silent,Silent rs17022707 1 119440280 [A/G] NM_001330677,NM_152380 TBX15,TBX15 Silent,Silent exm88703 1 119441695 [T/C] NM_001330677,NM_152380 TBX15,TBX15 EXON Missense_R327H,Missense_R221H exm88704 1 119441705 [A/G] NM_001330677,NM_152380 TBX15,TBX15 EXON Missense_P324S,Missense_P218S exm88705 1 119441722 [T/G] NM_001330677,NM_152380 TBX15,TBX15 EXON Missense_T318K,Missense_T212K rs1779416 1 119453869 [A/G] NM_001330677,NM_152380 TBX15,TBX15 Silent,Silent rs12033524 1 119454212 [T/C] NM_001330677,NM_152380 TBX15,TBX15 Silent,Silent rs1779429 1 119460481 [T/C] NM_001330677,NM_152380 TBX15,TBX15 Silent,Silent rs1779431 1 119461396 [T/G] NM_001330677,NM_152380 TBX15,TBX15 Silent,Silent exm1704956 1 119466168 [A/G] NM_001330677,NM_152380 TBX15,TBX15 EXON Missense_F251S,Missense_F145S exm88710 1 119466172 [T/C] NM_001330677,NM_152380 TBX15,TBX15 EXON Missense_D250N,Missense_D144N exm88716 1 119467440 [T/C] NM_001330677,NM_152380 TBX15,TBX15 EXON Synonymous_R174R,Synonymous_R68R rs1419286 1 119468760 [T/C] NM_001330677,NM_152380 TBX15,TBX15 Silent,Silent exm88721 1 119469188 [T/G] NM_001330677,NM_152380 TBX15,TBX15 EXON Missense_H156N,Missense_H50N rs10494217 1 119469188 [T/G] NM_001330677,NM_152380 TBX15,TBX15 EXON Missense_H156N,Missense_H50N exm88722 1 119469199 [T/C] NM_001330677,NM_152380 TBX15,TBX15 EXON Missense_G152D,Missense_G46D rs2645290 1 119471908 [A/G] NM_001330677,NM_152380 TBX15,TBX15 Silent,Silent rs1325945 1 119485771 [A/C] NM_001330677,NM_152380 TBX15,TBX15 Silent,Silent rs1750330 1 119493411 [A/C] NM_001330677,NM_152380 TBX15,TBX15 Silent,Silent rs6667873 1 119495681 [T/C] NM_001330677,NM_152380 TBX15,TBX15 Silent,Silent rs1155949 1 119496579 [T/C] NM_001330677,NM_152380 TBX15,TBX15 Silent,Silent rs985036 1 119500773 [A/G] NM_001330677,NM_152380 TBX15,TBX15 Silent,Silent exm-rs984222 1 119503843 [C/G] NM_001330677,NM_152380 TBX15,TBX15 Silent,Silent rs984225 1 119504284 [A/G] NM_001330677,NM_152380 TBX15,TBX15 Silent,Silent rs6680737 1 119521631 [A/G] NM_001330677,NM_152380 TBX15,TBX15 Silent,Silent rs1409159 1 119538433 [A/C] rs716217 1 119538705 [A/G] rs7551082 1 119540842 [A/C] rs4501872 1 119552284 [A/G] exm2268746 1 119555146 [T/G] exm-rs12021830 1 119562382 [T/C] rs2148150 1 119572057 [A/G] rs2645294 1 119574587 [T/C] NM_201263,NM_015836 WARS2,WARS2 EXON Silent,Silent exm88727 1 119575538 [A/G] NM_201263,NM_015836 WARS2,WARS2 EXON Silent,Missense_L360P exm88732 1 119575668 [T/C] NM_201263,NM_015836 WARS2,WARS2 EXON Silent,Missense_I317V exm88734 1 119575679 [T/A] NM_201263,NM_015836 WARS2,WARS2 EXON Silent,Missense_K313M exm88741 1 119575743 [A/G] NM_201263,NM_015836 WARS2,WARS2 EXON Silent,Missense_R292C exm1704991 1 119575758 [T/C] NM_201263,NM_015836 WARS2,WARS2 EXON Silent,Missense_V287M exm88747 1 119575818 [C/G] NM_201263,NM_015836 WARS2,WARS2 EXON Silent,Missense_A267P exm88750 1 119575863 [A/G] NM_201263,NM_015836 WARS2,WARS2 EXON Silent,Missense_R252C exm88756 1 119576796 [T/C] NM_201263,NM_015836 WARS2,WARS2 EXON Missense_M186V,Missense_M186V exm88763 1 119584935 [T/C] NM_201263,NM_015836 WARS2,WARS2 EXON Missense_G156D,Missense_G156D exm88765 1 119584950 [T/C] NM_201263,NM_015836 WARS2,WARS2 EXON Missense_H151R,Missense_H151R exm88768 1 119588230 [T/C] NM_201263,NM_015836 WARS2,WARS2 EXON Missense_R135Q,Missense_R135Q rs17023164 1 119589343 [T/C] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent rs17023171 1 119593268 [T/G] NM_201263,NM_015836,NR_126447 WARS2,WARS2,WARS2-IT1 Silent,Silent,Silent exm88773 1 119619077 [G/C] NM_201263,NM_015836 WARS2,WARS2 EXON Missense_P82A,Missense_P82A rs7525871 1 119621894 [T/C] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent rs2885226 1 119624163 [T/C] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent rs6658479 1 119627856 [T/C] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent rs2885227 1 119650928 [A/C] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent rs1341580 1 119657057 [T/G] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent rs10923754 1 119668640 [T/C] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent rs2498500 1 119673093 [T/C] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent rs4387216 1 119680296 [T/C] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent exm88783 1 119683231 [A/C] NM_201263,NM_015836,NR_125976,NR_125977,NR_125974,NR_125975 WARS2,WARS2,LOC101929147,LOC101929147,LOC101929147,LOC101929147 EXON Missense_W13G,Missense_W13G,Silent,Silent,Silent,Silent rs6428801 1 119688490 [A/G] NR_125976,NR_125977,NR_125974,NR_125975 LOC101929147,LOC101929147,LOC101929147,LOC101929147 Silent,Silent,Silent,Silent rs7543720 1 119705966 [A/G] NR_125976,NR_125974,NR_125975 LOC101929147,LOC101929147,LOC101929147 Silent,Silent,Silent rs6678854 1 119729171 [T/G] NR_125976,NR_125975 LOC101929147,LOC101929147 Silent,Silent rs1891222 1 119751002 [T/C] NR_125976,NR_125975 LOC101929147,LOC101929147 Silent,Silent rs10923775 1 119766273 [A/G] NR_125976,NR_125975 LOC101929147,LOC101929147 Silent,Silent rs7524644 1 119766683 [T/C] NR_125976,NR_125975 LOC101929147,LOC101929147 Silent,Silent rs871665 1 119772663 [T/C] NR_125976,NR_125975 LOC101929147,LOC101929147 Silent,Silent rs17023344 1 119776984 [T/G] NR_125975 LOC101929147 Silent rs11579916 1 119787542 [A/G] NR_125975 LOC101929147 Silent rs12757996 1 119812129 [A/G] NR_125975 LOC101929147 Silent rs1341802 1 119823046 [T/C] rs1539188 1 119828542 [T/C] rs17186115 1 119830226 [A/G] rs7526517 1 119858685 [A/G] rs838518 1 119860022 [A/G] rs725248 1 119861402 [T/C] rs947425 1 119863356 [A/G] rs838534 1 119893928 [T/C] NR_146623 LINC01780 Silent rs838530 1 119897499 [T/C] NR_146623 LINC01780 Silent rs3820032 1 119908763 [A/G] rs3753261 1 119910489 [T/C] rs6667203 1 119913824 [A/G] NM_016527,NM_001005783 HAO2,HAO2 Silent,Silent rs7514283 1 119916426 [A/G] NM_016527,NM_001005783 HAO2,HAO2 Silent,Silent exm88796 1 119925549 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_R48H,Missense_R61H exm88798 1 119925554 [T/C] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_R50W,Missense_R63W exm88804 1 119925632 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_A76T,Missense_A89T exm88805 1 119925642 [G/C] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_G79A,Missense_G92A exm88807 1 119925645 [A/T] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_F80Y,Missense_F93Y rs2298028 1 119925936 [T/C] NM_016527,NM_001005783 HAO2,HAO2 Silent,Silent exm2230921 1 119927444 [C/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_S110T,Missense_S123T exm1705085 1 119927479 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_E122K,Missense_E135K variant.5996 1 119927488 [T/C] NM_016527,NM_001005783 HAO2,HAO2 EXON Nonsense_R125X,Nonsense_R138X exm88818 1 119927663 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_Q183R,Missense_Q196R exm88819 1 119927674 [A/C] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_K187Q,Missense_K200Q exm88823 1 119929273 [T/C] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_T197I,Missense_T210I indel.5998 1 119929335 [D/I] NM_016527,NM_001005783 HAO2,HAO2 EXON exm88832 1 119929417 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_N245S,Missense_N258S exm88834 1 119929429 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_R249K,Missense_R262K variant.5999 1 119934875 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Nonsense_W305X,Nonsense_W318X variant.6000 1 119935312 [T/G] NM_016527,NM_001005783 HAO2,HAO2 Silent,Silent exm88845 1 119936414 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_R336Q,Missense_R349Q exm88847 1 119936419 [T/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_V338F,Missense_V351F exm88848 1 119936432 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_N342S,Missense_N355S rs879332 1 119940918 [A/G] exm88874 1 119964624 [T/C] NM_001166120,NM_000198 HSD3B2,HSD3B2 EXON Missense_A167V,Missense_A167V exm88882 1 119964762 [C/G] NM_001166120,NM_000198 HSD3B2,HSD3B2 EXON Missense_S213T,Missense_S213T exm88885 1 119964831 [T/C] NM_001166120,NM_000198 HSD3B2,HSD3B2 EXON Missense_L236S,Missense_L236S newrs80358221 1 119964900 [T/C] NM_001166120,NM_000198 HSD3B2,HSD3B2 EXON Missense_T259M,Missense_T259M rs6661603 1 119974568 [T/C] rs12035458 1 119977687 [T/C] rs1417609 1 119977806 [A/G] rs7546652 1 119990027 [T/C] rs1538987 1 119990185 [T/C] rs10923825 1 119991429 [T/C] rs7528420 1 119994095 [T/C] rs10923829 1 119998830 [A/G] rs6672903 1 119999212 [A/G] rs1361529 1 120000021 [T/C] rs10923830 1 120000183 [T/C] rs12406375 1 120009049 [T/C] rs12406851 1 120011081 [A/G] rs7547046 1 120014607 [T/C] rs6661258 1 120047647 [A/G] rs932603 1 120049735 [T/C] rs6671149 1 120050300 [T/G] NM_000862,NM_001328615 HSD3B1,HSD3B1 Silent,Silent rs3765945 1 120051446 [A/G] NM_000862,NM_001328615 HSD3B1,HSD3B1 Silent,Silent rs7519379 1 120052043 [A/C] NM_000862,NM_001328615 HSD3B1,HSD3B1 Silent,Silent exm88931 1 120054267 [T/C] NM_000862,NM_001328615 HSD3B1,HSD3B1 EXON Missense_S96F,Missense_S96F exm88936 1 120056498 [A/C] NM_000862,NM_001328615 HSD3B1,HSD3B1 EXON Missense_P118T,Missense_P118T exm88946 1 120056709 [T/C] NM_000862,NM_001328615 HSD3B1,HSD3B1 EXON Missense_M188T,Missense_M188T rs7553527 1 120077584 [T/C] rs6681580 1 120083340 [T/G] rs10802112 1 120091434 [T/C] rs10923859 1 120099044 [A/G] rs4659204 1 120110175 [A/C] NR_033781 HSD3BP4 EXON Silent rs10802113 1 120111002 [A/G] NR_033781 HSD3BP4 EXON Silent rs6428833 1 120123179 [A/G] rs10754411 1 120123642 [T/C] rs1923025 1 120138083 [A/G] rs346683 1 120138931 [A/G] rs12057263 1 120143753 [A/G] rs10923875 1 120150949 [T/C] rs2281493 1 120162787 [T/C] NM_001080470 ZNF697 EXON Silent exm88985 1 120165648 [A/G] NM_001080470 ZNF697 EXON Missense_R440C exm89011 1 120166535 [G/C] NM_001080470 ZNF697 EXON Missense_R144T exm89012 1 120166537 [C/G] NM_001080470 ZNF697 EXON Missense_W143C exm1705285 1 120166616 [A/C] NM_001080470 ZNF697 EXON Missense_R117L exm89018 1 120166617 [A/G] NM_001080470 ZNF697 EXON Missense_R117W indel.6011 1 120168581 [I/D] NM_001080470 ZNF697 EXON exm89032 1 120168623 [A/G] NM_001080470 ZNF697 EXON Missense_P34L exm89033 1 120168654 [A/C] NM_001080470 ZNF697 EXON Missense_F24V rs10754417 1 120177454 [T/G] NM_001080470 ZNF697 Silent rs838989 1 120182906 [A/G] NM_001080470 ZNF697 Silent rs620741 1 120230079 [A/G] rs1853048 1 120240114 [A/C] rs2764886 1 120241771 [T/C] rs10802132 1 120242537 [T/C] rs12030925 1 120247782 [A/C] exm89058 1 120254732 [T/G] NM_006623 PHGDH EXON Missense_Q29H rs477992 1 120257576 [A/G] NM_006623 PHGDH Silent rs942835 1 120263018 [T/C] NM_006623 PHGDH Silent exm1705339 1 120266004 [G/C] NM_006623 PHGDH EXON Missense_P99R rs3828090 1 120272726 [A/G] NM_006623 PHGDH Silent exm89096 1 120277341 [G/C] NM_006623 PHGDH EXON Missense_L199V newrs149128100 1 120277390 [A/G] NM_006623 PHGDH Silent exm89103 1 120277956 [T/G] NM_006623 PHGDH EXON Missense_G228W exm89108 1 120278017 [T/C] NM_006623 PHGDH EXON Missense_A248V exm89136 1 120284519 [A/G] NM_006623 PHGDH EXON Missense_N403S exm89139 1 120285475 [A/G] NM_006623 PHGDH EXON Missense_G419R exm89140 1 120285478 [A/G] NM_006623 PHGDH EXON Missense_E420K rs543703 1 120285546 [A/G] NM_006623 PHGDH EXON Synonymous_T442T exm89157 1 120286620 [A/C] NM_006623 PHGDH EXON Missense_A520E exm89159 1 120286644 [T/C] NM_006623 PHGDH EXON Missense_A528V exm2264896 1 120292733 [A/G] NM_005518,NM_001166107 HMGCS2,HMGCS2 Silent,Silent rs536662 1 120292733 [A/G] NM_005518,NM_001166107 HMGCS2,HMGCS2 Silent,Silent exm89161 1 120293430 [T/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_V508I,Missense_V466I exm89167 1 120295173 [T/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Synonymous_K473K,Synonymous_K431K exm89180 1 120298084 [T/A] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_S385T,Missense_S343T indel.6023 1 120298105 [D/I] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON exm89181 1 120298113 [G/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_S375C,Missense_S333C exm89188 1 120300018 [T/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_M298I,Missense_M256I indel.6024 1 120300021 [I/D] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON exm89190 1 120300046 [T/G] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_P289H,Missense_P247H variant.6025 1 120301744 [A/G] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Nonsense_Q283X,Nonsense_Q241X exm89198 1 120301865 [C/G] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Nonsense_Y242X,Nonsense_Y200X exm89204 1 120302538 [T/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_G212R,Silent exm2249751 1 120302602 [A/G] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Synonymous_A190A,Silent exm89221 1 120307079 [T/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_R92H,Missense_R92H exm89225 1 120307113 [T/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_A81T,Missense_A81T indel.6031 1 120307172 [I/D] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON exm89229 1 120307179 [T/G] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_L59M,Missense_L59M rs3790694 1 120309441 [A/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 Silent,Silent exm89232 1 120311395 [G/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_P25A,Missense_P25A exm89236 1 120311442 [T/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_K9R,Missense_K9R exm89237 1 120311460 [T/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_R3H,Missense_R3H rs2843016 1 120322961 [A/G] rs2582783 1 120324995 [T/C] newrs1052972 1 120336785 [T/C] NM_001159352,NM_032044 REG4,REG4 EXON Silent,Silent variant.6033 1 120336824 [A/G] NM_001159352,NM_032044 REG4,REG4 EXON Silent,Silent rs699778 1 120336876 [T/G] NM_001159352,NM_032044 REG4,REG4 EXON Silent,Silent exm89241 1 120337272 [T/C] NM_001159352,NM_032044 REG4,REG4 EXON Missense_R149H,Missense_R149H exm89244 1 120341126 [T/G] NM_001159352,NM_032044 REG4,REG4 EXON Missense_N135H,Missense_N135H exm89246 1 120341140 [A/G] NM_001159352,NM_032044 REG4,REG4 EXON Missense_A130V,Missense_A130V exm89247 1 120341176 [A/C] NM_001159352,NM_032044 REG4,REG4 EXON Missense_W118L,Missense_W118L exm89248 1 120341193 [T/C] NM_001159352,NM_032044 REG4,REG4 EXON Missense_M112I,Missense_M112I exm89249 1 120341212 [T/C] NM_001159352,NM_032044 REG4,REG4 EXON Missense_Q106R,Missense_Q106R exm2249752 1 120345451 [T/C] NM_001159352,NM_032044,NM_001159353 REG4,REG4,REG4 EXON Silent,Silent,Synonymous_X135X variant.6036 1 120345586 [A/C] NM_001159352,NM_032044,NM_001159353 REG4,REG4,REG4 EXON Silent,Silent,Nonsense_Y90X exm89269 1 120345596 [A/G] NM_001159352,NM_032044,NM_001159353 REG4,REG4,REG4 EXON Silent,Silent,Missense_P87L newrs10158202 1 120378615 [A/C] NM_001047980 NBPF7 Silent exm89301 1 120378772 [A/G] NM_001047980 NBPF7 EXON Missense_T325M exm89303 1 120378787 [A/G] NM_001047980 NBPF7 EXON Missense_P320L exm89309 1 120379932 [T/G] NM_001047980 NBPF7 EXON Missense_Q297K rs3009186 1 120380990 [T/C] NM_001047980 NBPF7 Silent exm89318 1 120381846 [A/G] NM_001047980 NBPF7 EXON Missense_S267P exm89321 1 120381882 [T/C] NM_001047980 NBPF7 EXON Missense_K255E exm2249753 1 120381919 [T/C] NM_001047980 NBPF7 EXON Synonymous_P242P exm89337 1 120384066 [T/C] NM_001047980 NBPF7 EXON Missense_E166K exm89338 1 120384068 [T/C] NM_001047980 NBPF7 EXON Missense_R165Q exm89365 1 120387025 [T/C] NM_001047980 NBPF7 EXON Missense_R45H rs10923916 1 120409703 [A/C] rs12060624 1 120415364 [T/C] rs10802138 1 120434626 [A/C] variant.6045 1 120436657 [T/G] NM_021794 ADAM30 EXON Missense_Q768P variant.6046 1 120436681 [T/C] NM_021794 ADAM30 EXON Missense_E760G exm1705481 1 120436711 [T/C] NM_021794 ADAM30 EXON Missense_Q750R indel.6047 1 120436717 [I/D] NM_021794 ADAM30 EXON exm89392 1 120436909 [A/G] NM_021794 ADAM30 EXON Missense_S684L exm89394 1 120436918 [A/G] NM_021794 ADAM30 EXON Missense_A681V indel.6049 1 120437013 [I/D] NM_021794 ADAM30 EXON exm89408 1 120437207 [A/T] NM_021794 ADAM30 EXON Missense_M585L variant.6051 1 120437351 [A/C] NM_021794 ADAM30 EXON Nonsense_E537X exm89412 1 120437471 [T/C] NM_021794 ADAM30 EXON Missense_R497G newrs140489804 1 120437678 [A/G] NM_021794 ADAM30 EXON Nonsense_Q428X exm89424 1 120437688 [T/A] NM_021794 ADAM30 EXON Missense_D424E exm89428 1 120437809 [A/G] NM_021794 ADAM30 EXON Missense_S384L exm89436 1 120437884 [A/G] NM_021794 ADAM30 EXON Missense_L359P exm89438 1 120437951 [A/C] NM_021794 ADAM30 EXON Missense_A337S exm89451 1 120438266 [T/G] NM_021794 ADAM30 EXON Missense_L232I exm89453 1 120438295 [T/C] NM_021794 ADAM30 EXON Missense_N222S exm89454 1 120438317 [T/C] NM_021794 ADAM30 EXON Missense_R215G exm89462 1 120438488 [A/C] NM_021794 ADAM30 EXON Missense_V158F indel.6054 1 120438556 [D/I] NM_021794 ADAM30 EXON exm89465 1 120438577 [A/G] NM_021794 ADAM30 EXON Missense_T128I exm89467 1 120438593 [T/C] NM_021794 ADAM30 EXON Missense_K123E exm89477 1 120438796 [A/C] NM_021794 ADAM30 EXON Missense_V55G exm89478 1 120438811 [T/C] NM_021794 ADAM30 EXON Missense_S50N exm89481 1 120438827 [T/C] NM_021794 ADAM30 EXON Missense_I45V exm89482 1 120438902 [T/C] NM_021794 ADAM30 EXON Missense_T20A rs835575 1 120456563 [T/G] NM_024408 NOTCH2 EXON Silent exm89497 1 120458122 [T/A] NM_024408 NOTCH2 EXON Missense_L2408H exm89503 1 120458270 [G/C] NM_024408 NOTCH2 EXON Missense_P2359A exm89517 1 120458579 [A/G] NM_024408 NOTCH2 EXON Missense_R2256C exm89528 1 120458866 [T/C] NM_024408 NOTCH2 EXON Missense_Y2160C exm89535 1 120458982 [G/C] NM_024408 NOTCH2 EXON Missense_K2121N exm89542 1 120459122 [T/C] NM_024408 NOTCH2 EXON Missense_V2075M exm89549 1 120459251 [T/G] NM_024408 NOTCH2 EXON Missense_H2032N exm2259746 1 120463230 [T/C] NM_024408 NOTCH2 Silent exm89582 1 120464998 [T/C] NM_024408 NOTCH2 EXON Missense_I1692V exm89583 1 120465007 [A/T] NM_024408 NOTCH2 EXON Missense_I1689F exm1705521 1 120465262 [A/C] NM_024408 NOTCH2 EXON Missense_V1667F exm89590 1 120465288 [A/G] NM_024408 NOTCH2 EXON Missense_T1658I exm89593 1 120465364 [T/C] NM_024408 NOTCH2 EXON Missense_V1633I exm89597 1 120466386 [T/C] NM_024408 NOTCH2 EXON Missense_R1578H exm89610 1 120468201 [T/A] NM_024408 NOTCH2 EXON Missense_L1413H exm89612 1 120468211 [A/G] NM_024408 NOTCH2 EXON Missense_R1410C exm89615 1 120468283 [T/C] NM_024408 NOTCH2 EXON Missense_G1386R exm2249755 1 120468326 [G/C] NM_024408 NOTCH2 EXON Synonymous_P1371P newrs118188023 1 120469122 [T/C] NM_024408 NOTCH2 EXON Synonymous_P1335P exm89628 1 120469147 [T/C] NM_024408 NOTCH2 EXON Missense_D1327G exm89630 1 120469211 [T/C] NM_024408 NOTCH2 EXON Missense_D1306N exm89634 1 120471613 [T/C] NM_024408 NOTCH2 EXON Missense_R1293H exm1705530 1 120471712 [T/C] NM_024408 NOTCH2 EXON Missense_R1260H exm89640 1 120471739 [T/C] NM_024408 NOTCH2 EXON Missense_R1251H exm89650 1 120478125 [A/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_F1209V,Missense_F1209V indel.6056 1 120478212 [D/I] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON exm89652 1 120479948 [T/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_H1160R,Missense_H1160R exm2249756 1 120480583 [A/G] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Synonymous_C1078C,Synonymous_C1078C exm89665 1 120480611 [T/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_R1069Q,Missense_R1069Q exm89675 1 120484300 [A/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_D944Y,Missense_D944Y exm89676 1 120484314 [A/G] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_P939L,Missense_P939L exm89679 1 120484345 [T/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_G929R,Missense_G929R exm89687 1 120491644 [A/G] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_A862V,Missense_A862V exm89704 1 120497840 [T/A] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_I681N,Missense_I681N rs1493696 1 120505532 [A/G] NM_024408,NM_001200001 NOTCH2,NOTCH2 Silent,Silent exm89708 1 120506308 [T/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_A602T,Missense_A602T exm89721 1 120509025 [T/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_N514S,Missense_N514S exm89724 1 120510113 [T/G] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_Q466K,Missense_Q466K exm89725 1 120510194 [T/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_A439T,Missense_A439T exm89737 1 120512296 [A/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_A316S,Missense_A316S rs10923932 1 120523754 [T/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 Silent,Silent exm2230941 1 120548070 [A/C] NM_024408,NM_001200001,NR_157049 NOTCH2,NOTCH2,NOTCH2NLR EXON Missense_E99D,Missense_E99D,Silent kgp15559211 1 120753168 [T/G] rs827361 1 120918861 [T/C] rs6683357 1 121164607 [A/G] rs4844616 1 121171208 [A/G] rs4844381 1 121184898 [T/C] exm2268748 1 121184898 [T/C] exm-rs6600671 1 121200490 [T/G] rs6600667 1 121221334 [A/C] rs6600662 1 121230790 [A/G] rs11249342 1 121239763 [T/G] exm2268931 1 121239763 [T/G] exm-rs11249433 1 121280613 [A/G] NR_003955 EMBP1 Silent rs2222371 1 121289118 [T/C] NR_003955 EMBP1 Silent exm2259780 1 142541502 [T/G] exm2264897 1 142649718 [A/G] kgp3844844 1 142692818 [A/G] indel.6060 1 143906116 [I/D] NM_001345942,NM_207418,NR_144320,NM_001346067,NM_001287385,NM_001346070,NM_001346071,NR_144349,NM_001346068 FAM72D,FAM72D,FAM72D,FAM72C,FAM72C,FAM72C,FAM72C,FAM72C,FAM72C EXON rs10907360 1 144474542 [T/C] NM_001278267,NM_001351365 NBPF20,NBPF19 Silent,Silent kgp4374968 1 144479557 [T/G] NM_001278267,NM_001351365 NBPF20,NBPF19 Silent,Silent exm89960 1 144816621 [A/G] NM_001278267,NM_001351365,NR_102405,NM_001037501,NR_102404,NM_001037675,NM_001277444 NBPF20,NBPF19,NBPF8,NBPF8,NBPF8,NBPF9,NBPF9 EXON Silent,Silent,Silent,Missense_N509S,Silent,Missense_N509S,Missense_N509S indel.6062 1 144852393 [D/I] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON indel.6063 1 144852395 [I/D] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON exm90045 1 144854580 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_T2297I,Missense_T2244I,Missense_T2395I,Missense_T2191I,Missense_T2190I,Missense_T2297I,Missense_T2459I exm90051 1 144854608 [T/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_K2288Q,Missense_K2235Q,Missense_K2386Q,Missense_K2182Q,Missense_K2181Q,Missense_K2288Q,Missense_K2450Q exm90087 1 144857620 [G/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R2145T,Silent,Silent,Missense_R2039T,Missense_R2038T,Missense_R2145T,Missense_R2307T exm90116 1 144859929 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R2052Q,Silent,Missense_R2189Q,Missense_R1946Q,Missense_R1945Q,Missense_R2052Q,Missense_R2214Q exm90118 1 144859969 [G/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_P2039A,Silent,Missense_P2176A,Missense_P1933A,Missense_P1932A,Missense_P2039A,Missense_P2201A exm90120 1 144859987 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_D2033N,Silent,Missense_D2170N,Missense_D1927N,Missense_D1926N,Missense_D2033N,Missense_D2195N exm90151 1 144864315 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_Q1927R,Missense_Q1993R,Missense_Q2064R,Missense_Q1821R,Missense_Q1820R,Missense_Q1927R,Missense_Q2089R exm90158 1 144866600 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R1881H,Missense_R1947H,Missense_R2018H,Missense_R1775H,Missense_R1774H,Missense_R1881H,Missense_R2043H exm1710024 1 144866601 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R1881C,Missense_R1947C,Missense_R2018C,Missense_R1775C,Missense_R1774C,Missense_R1881C,Missense_R2043C exm90167 1 144866672 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R1857H,Missense_R1923H,Missense_R1994H,Missense_R1751H,Missense_R1750H,Missense_R1857H,Missense_R2019H exm90168 1 144866673 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R1857C,Missense_R1923C,Missense_R1994C,Missense_R1751C,Missense_R1750C,Missense_R1857C,Missense_R2019C exm90173 1 144866688 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R1852W,Missense_R1918W,Missense_R1989W,Missense_R1746W,Missense_R1745W,Missense_R1852W,Missense_R2014W exm90176 1 144867953 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_S1829F,Missense_S1895F,Missense_S1966F,Missense_S1723F,Missense_S1722F,Missense_S1829F,Missense_S1991F exm90178 1 144868003 [T/A] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_D1812E,Missense_D1878E,Missense_D1949E,Missense_D1706E,Missense_D1705E,Missense_D1812E,Missense_D1974E exm90184 1 144868094 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_N1782S,Missense_N1848S,Missense_N1919S,Missense_N1676S,Missense_N1675S,Missense_N1782S,Missense_N1944S exm90185 1 144868098 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_L1781F,Missense_L1847F,Missense_L1918F,Missense_L1675F,Missense_L1674F,Missense_L1781F,Missense_L1943F exm90188 1 144868113 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_D1776N,Missense_D1842N,Missense_D1913N,Missense_D1670N,Missense_D1669N,Missense_D1776N,Missense_D1938N exm90192 1 144868131 [T/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_S1770R,Missense_S1836R,Missense_S1907R,Missense_S1664R,Missense_S1663R,Missense_S1770R,Missense_S1932R exm90208 1 144871837 [A/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_A1709S,Missense_A1775S,Missense_A1846S,Silent,Silent,Missense_A1709S,Missense_A1871S exm90219 1 144873934 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_P1675S,Missense_P1741S,Missense_P1812S,Missense_P1631S,Missense_P1630S,Missense_P1675S,Missense_P1837S exm90221 1 144873960 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_G1666E,Missense_G1732E,Missense_G1803E,Missense_G1622E,Missense_G1621E,Missense_G1666E,Missense_G1828E exm90222 1 144873964 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Nonsense_Q1665X,Nonsense_Q1731X,Nonsense_Q1802X,Nonsense_Q1621X,Nonsense_Q1620X,Nonsense_Q1665X,Nonsense_Q1827X exm90226 1 144874015 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_S1648P,Missense_S1714P,Missense_S1785P,Missense_S1604P,Missense_S1603P,Missense_S1648P,Missense_S1810P exm1710047 1 144874752 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_A1619V,Missense_A1685V,Missense_A1756V,Missense_A1575V,Missense_A1574V,Missense_A1619V,Missense_A1781V exm90236 1 144874815 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_H1598R,Missense_H1664R,Missense_H1735R,Missense_H1554R,Missense_H1553R,Missense_H1598R,Missense_H1760R exm90244 1 144875986 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_L1565P,Missense_L1631P,Missense_L1702P,Missense_L1521P,Missense_L1520P,Missense_L1565P,Missense_L1727P variant.6064 1 144876030 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.6065 1 144879035 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_G1472E,Missense_G1538E,Missense_G1609E,Missense_G1428E,Missense_G1427E,Missense_G1472E,Missense_G1634E exm90300 1 144879485 [G/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_T1322R,Missense_T1388R,Missense_T1459R,Missense_T1278R,Missense_T1277R,Missense_T1322R,Missense_T1484R exm90302 1 144879497 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R1318H,Missense_R1384H,Missense_R1455H,Missense_R1274H,Missense_R1273H,Missense_R1318H,Missense_R1480H exm90310 1 144880814 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_L1272F,Missense_L1338F,Missense_L1409F,Missense_L1228F,Missense_L1227F,Missense_L1272F,Missense_L1434F exm90314 1 144880834 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_S1265N,Missense_S1331N,Missense_S1402N,Missense_S1221N,Missense_S1220N,Missense_S1265N,Missense_S1427N exm90323 1 144881463 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_A1245T,Missense_A1311T,Missense_A1382T,Missense_A1201T,Missense_A1201T,Missense_A1245T,Missense_A1408T exm90324 1 144881475 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_V1241I,Missense_V1307I,Missense_V1378I,Missense_V1197I,Missense_V1197I,Missense_V1241I,Missense_V1404I exm90327 1 144881547 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R1217C,Missense_R1283C,Missense_R1354C,Missense_R1173C,Missense_R1173C,Missense_R1217C,Missense_R1380C exm90329 1 144881583 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_S1205P,Missense_S1271P,Missense_S1342P,Missense_S1161P,Missense_S1161P,Missense_S1205P,Missense_S1368P exm90331 1 144881595 [G/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_P1201A,Missense_P1267A,Missense_P1338A,Missense_P1157A,Missense_P1157A,Missense_P1201A,Missense_P1364A variant.6069 1 144882441 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm90339 1 144882472 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_A1183T,Missense_A1249T,Missense_A1320T,Silent,Silent,Missense_A1183T,Missense_A1346T exm90347 1 144882630 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_G1130E,Missense_G1196E,Missense_G1267E,Silent,Silent,Missense_G1130E,Missense_G1293E exm90363 1 144882849 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_A1057V,Missense_A1123V,Missense_A1194V,Missense_A1123V,Missense_A1123V,Missense_A1057V,Missense_A1220V exm90370 1 144886136 [T/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_Q1033P,Missense_Q1099P,Missense_Q1170P,Missense_Q1099P,Missense_Q1099P,Missense_Q1033P,Missense_Q1196P exm90377 1 144886220 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_E1005G,Missense_E1071G,Missense_E1142G,Missense_E1071G,Missense_E1071G,Missense_E1005G,Missense_E1168G exm90378 1 144886226 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_Q1003R,Missense_Q1069R,Missense_Q1140R,Missense_Q1069R,Missense_Q1069R,Missense_Q1003R,Missense_Q1166R variant.6071 1 144892496 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2268753 1 144894611 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm90407 1 144903149 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_S915G,Missense_S981G,Missense_S1052G,Missense_S981G,Missense_S981G,Missense_S915G,Missense_S1078G,Missense_S915G,Missense_S1078G indel.6073 1 144909884 [I/D] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON exm90428 1 144911894 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R739G,Missense_R805G,Missense_R876G,Missense_R805G,Missense_R805G,Missense_R739G,Missense_R902G,Missense_R739G,Missense_R902G exm90437 1 144911949 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_I720M,Missense_I786M,Missense_I857M,Missense_I786M,Missense_I786M,Missense_I720M,Missense_I883M,Missense_I720M,Missense_I883M exm90444 1 144912153 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_C708R,Missense_C774R,Missense_C845R,Missense_C774R,Missense_C774R,Missense_C708R,Missense_C871R,Missense_C708R,Missense_C871R exm90446 1 144912191 [T/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_P695H,Missense_P761H,Missense_P832H,Missense_P761H,Missense_P761H,Missense_P695H,Missense_P858H,Missense_P695H,Missense_P858H exm2231046 1 144915569 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R619H,Missense_R685H,Missense_R756H,Missense_R685H,Missense_R685H,Missense_R619H,Missense_R782H,Missense_R619H,Missense_R782H exm90469 1 144916643 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R571H,Missense_R637H,Missense_R708H,Missense_R637H,Missense_R637H,Missense_R571H,Missense_R734H,Missense_R571H,Missense_R734H exm1710122 1 144916644 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R571C,Missense_R637C,Missense_R708C,Missense_R637C,Missense_R637C,Missense_R571C,Missense_R734C,Missense_R571C,Missense_R734C variant.6075 1 144916675 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Nonsense_W560X,Nonsense_W626X,Nonsense_W697X,Nonsense_W626X,Nonsense_W626X,Nonsense_W560X,Nonsense_W723X,Nonsense_W560X,Nonsense_W723X exm90472 1 144916746 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_M537V,Missense_M603V,Missense_M674V,Missense_M603V,Missense_M603V,Missense_M537V,Missense_M700V,Missense_M537V,Missense_M700V exm90482 1 144917567 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_V513M,Missense_V579M,Missense_V650M,Missense_V579M,Missense_V579M,Missense_V513M,Missense_V676M,Missense_V513M,Missense_V676M exm90489 1 144917636 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R490W,Missense_R556W,Missense_R627W,Missense_R556W,Missense_R556W,Missense_R490W,Missense_R653W,Missense_R490W,Missense_R653W exm90501 1 144918954 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_L411S,Missense_L477S,Missense_L548S,Missense_L477S,Missense_L477S,Missense_L411S,Missense_L574S,Missense_L411S,Missense_L574S exm90503 1 144918972 [T/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_Q405P,Missense_Q471P,Missense_Q542P,Missense_Q471P,Missense_Q471P,Missense_Q405P,Missense_Q568P,Missense_Q405P,Missense_Q568P exm90504 1 144918984 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R401Q,Missense_R467Q,Missense_R538Q,Missense_R467Q,Missense_R467Q,Missense_R401Q,Missense_R564Q,Missense_R401Q,Missense_R564Q exm90507 1 144921857 [T/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_E391A,Missense_E457A,Missense_E528A,Missense_E457A,Missense_E457A,Missense_E391A,Missense_E554A,Missense_E391A,Missense_E554A exm90515 1 144921950 [G/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R360T,Missense_R426T,Missense_R497T,Missense_R426T,Missense_R426T,Missense_R360T,Missense_R523T,Missense_R360T,Missense_R523T variant.6077 1 144922249 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Nonsense_Q307X,Nonsense_Q373X,Nonsense_Q444X,Nonsense_Q373X,Nonsense_Q373X,Nonsense_Q307X,Nonsense_Q470X,Nonsense_Q307X,Nonsense_Q470X exm90526 1 144922252 [G/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_G306R,Missense_G372R,Missense_G443R,Missense_G372R,Missense_G372R,Missense_G306R,Missense_G469R,Missense_G306R,Missense_G469R newrs144365853 1 144922280 [A/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.6079 1 144922518 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm90532 1 144922524 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R295C,Missense_R361C,Missense_R432C,Missense_R361C,Missense_R361C,Missense_R295C,Missense_R458C,Missense_R295C,Missense_R458C exm90540 1 144922638 [A/T] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_I257F,Missense_I323F,Missense_I394F,Missense_I323F,Missense_I323F,Missense_I257F,Missense_I420F,Missense_I257F,Missense_I420F exm90542 1 144923712 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_Q249R,Missense_Q315R,Missense_Q386R,Missense_Q315R,Missense_Q315R,Missense_Q249R,Missense_Q412R,Missense_Q249R,Missense_Q412R variant.6080 1 144930579 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.6081 1 144930642 [D/I] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON exm90565 1 144930756 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S318N,Silent,Missense_S318N exm90569 1 144930790 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R307X,Silent,Nonsense_R307X exm90570 1 144930802 [T/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I303L,Silent,Missense_I303L exm90571 1 144930805 [G/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P302A,Silent,Missense_P302A exm90572 1 144930816 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L298P,Silent,Missense_L298P indel.6083 1 144930910 [D/I] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON exm90581 1 144930936 [A/T] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D258V,Silent,Missense_D258V exm90583 1 144930960 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q250R,Silent,Missense_Q250R exm90589 1 144930994 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G239S,Silent,Missense_G239S exm90606 1 144931218 [C/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P164R,Silent,Missense_P164R exm90616 1 144931387 [T/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I108L,Silent,Missense_I108L variant.6084 1 144931471 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_Q80X,Silent,Nonsense_Q80X exm1710163 1 144931507 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I68V,Silent,Missense_I68V exm90629 1 144931532 [A/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D59E,Silent,Missense_D59E exm90634 1 144931581 [C/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R43P,Silent,Missense_R43P exm90639 1 144931626 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001350520,NM_001002812,NM_001002811 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N28S,Silent,Missense_N28S variant.6085 1 144946627 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001002812 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Nonsense_Q212X,Nonsense_Q278X,Nonsense_Q349X,Nonsense_Q278X,Nonsense_Q278X,Nonsense_Q212X,Nonsense_Q212X exm90653 1 144946680 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001002812 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R194Q,Missense_R260Q,Missense_R331Q,Missense_R260Q,Missense_R260Q,Missense_R194Q,Missense_R194Q exm90655 1 144946701 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001002812 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_R187K,Missense_R253K,Missense_R324K,Missense_R253K,Missense_R253K,Missense_R187K,Missense_R187K exm90688 1 144994670 [A/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001002812,NM_022359,NM_001002810,NM_001195261,NM_001195260 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_S21I,Missense_S87I,Missense_S158I,Missense_S87I,Missense_S87I,Missense_S21I,Missense_S21I,Missense_S158I,Missense_S21I,Missense_S24I,Silent exm90689 1 144994694 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_014644,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_001198834,NM_001002812,NM_022359,NM_001002810,NM_001195261,NM_001195260 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_N13S,Missense_N79S,Missense_N150S,Missense_N79S,Missense_N79S,Missense_N13S,Missense_N13S,Missense_N150S,Missense_N13S,Missense_N16S,Silent exm90704 1 145015877 [T/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_022359 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_L71I,Missense_L142I,Missense_L71I,Missense_L71I,Missense_L142I exm90705 1 145015885 [T/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_022359 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_T68N,Missense_T139N,Missense_T68N,Missense_T68N,Missense_T139N exm90708 1 145015937 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_022359 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_F51L,Missense_F122L,Missense_F51L,Missense_F51L,Missense_F122L exm90719 1 145021126 [A/G] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_022359 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_T21M,Missense_T92M,Missense_T21M,Missense_T21M,Missense_T92M exm90724 1 145039594 [T/C] NM_001278267,NM_001351365,NM_001277444,NR_144517,NR_144516,NM_001350522,NM_001350521,NM_001198832,NM_001350523,NM_022359 NBPF20,NBPF19,NBPF9,LOC100996724,LOC100996724,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Silent,Silent,Missense_T6A,Silent,Missense_T6A,Missense_T6A,Silent exm90745 1 145075775 [A/G] NM_001278267,NM_001351365,NM_001277444,NM_001350521,NM_022359 NBPF20,NBPF19,NBPF9,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Missense_P30S,Missense_P30S exm90748 1 145075809 [T/G] NM_001278267,NM_001351365,NM_001277444,NM_001350521,NM_022359 NBPF20,NBPF19,NBPF9,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Nonsense_C18X,Nonsense_C18X exm90764 1 145103949 [A/T] NM_001278267,NM_001351365,NM_001277444,NM_004892 NBPF20,NBPF19,NBPF9,SEC22B EXON Silent,Silent,Silent,Missense_X39Y exm90765 1 145103956 [T/C] NM_001278267,NM_001351365,NM_001277444,NM_004892 NBPF20,NBPF19,NBPF9,SEC22B EXON Silent,Silent,Silent,Nonsense_R42X exm90766 1 145103957 [A/G] NM_001278267,NM_001351365,NM_001277444,NM_004892 NBPF20,NBPF19,NBPF9,SEC22B EXON Silent,Silent,Silent,Missense_R42Q exm90767 1 145103972 [A/C] NM_001278267,NM_001351365,NM_001277444,NM_004892 NBPF20,NBPF19,NBPF9,SEC22B EXON Silent,Silent,Silent,Missense_Q47P exm90780 1 145112468 [A/C] NM_001278267,NM_001351365,NM_001277444,NM_004892 NBPF20,NBPF19,NBPF9,SEC22B EXON Silent,Silent,Silent,Missense_I148L exm90783 1 145112517 [T/C] NM_001278267,NM_001351365,NM_001277444,NM_004892 NBPF20,NBPF19,NBPF9,SEC22B EXON Silent,Silent,Silent,Missense_S164L exm90787 1 145115783 [A/G] NM_001278267,NM_001351365,NM_001277444,NM_004892 NBPF20,NBPF19,NBPF9,SEC22B EXON Silent,Silent,Silent,Missense_R181H exm90788 1 145115792 [T/C] NM_001278267,NM_001351365,NM_001277444,NM_004892 NBPF20,NBPF19,NBPF9,SEC22B EXON Silent,Silent,Silent,Missense_A184V exm90790 1 145115815 [A/C] NM_001278267,NM_001351365,NM_001277444,NM_004892 NBPF20,NBPF19,NBPF9,SEC22B EXON Silent,Silent,Silent,Missense_T192P kgp25054214 1 145169340 [T/G] NM_001278267,NM_001351365,NM_001277444 NBPF20,NBPF19,NBPF9 Silent,Silent,Silent exm90874 1 145281993 [A/G] NM_001278267,NM_001351365,NM_001277444,NM_001364006,NM_203458,NM_001364007,NM_001364008,NR_157049,NM_001364013,NM_001364012 NBPF20,NBPF19,NBPF9,NOTCH2NLA,NOTCH2NLA,NOTCH2NLB,NOTCH2NLB,NOTCH2NLR,NOTCH2NLC,NOTCH2NLC EXON Silent,Silent,Silent,Missense_R238G,Missense_R225G,Missense_R264G,Missense_R238G,Silent,Missense_R279G,Missense_R225G kgp2087890 1 145383239 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371 NBPF20,NBPF19,NBPF10,NBPF10 Silent,Silent,Silent,Silent kgp622307 1 145387186 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371 NBPF20,NBPF19,NBPF10,NBPF10 Silent,Silent,Silent,Silent rs10797649 1 145394955 [A/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371 NBPF20,NBPF19,NBPF10,NBPF10 Silent,Silent,Silent,Silent rs16827043 1 145395440 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371 NBPF20,NBPF19,NBPF10,NBPF10 Silent,Silent,Silent,Silent exm-rs12091564 1 145395604 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371 NBPF20,NBPF19,NBPF10,NBPF10 Silent,Silent,Silent,Silent exm2231069 1 145414790 [C/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001316767,NM_213653,NM_213652,NM_202004,NM_145277 NBPF20,NBPF19,NBPF10,NBPF10,HJV,HJV,HJV,HJV,HJV EXON Silent,Silent,Silent,Silent,Silent,Missense_E3D,Silent,Silent,Silent exm91016 1 145415567 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001316767,NM_213653,NM_213652,NM_202004,NM_145277 NBPF20,NBPF19,NBPF10,NBPF10,HJV,HJV,HJV,HJV,HJV EXON Silent,Silent,Silent,Silent,Silent,Missense_P129L,Silent,Silent,Missense_P16L exm91023 1 145415669 [G/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001316767,NM_213653,NM_213652,NM_202004,NM_145277 NBPF20,NBPF19,NBPF10,NBPF10,HJV,HJV,HJV,HJV,HJV EXON Silent,Silent,Silent,Silent,Silent,Missense_G163A,Silent,Silent,Missense_G50A rs10218795 1 145416056 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001316767,NM_213653,NM_213652,NM_202004,NM_145277 NBPF20,NBPF19,NBPF10,NBPF10,HJV,HJV,HJV,HJV,HJV Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm91030 1 145416337 [A/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001316767,NM_213653,NM_213652,NM_202004,NM_145277 NBPF20,NBPF19,NBPF10,NBPF10,HJV,HJV,HJV,HJV,HJV EXON Silent,Silent,Silent,Silent,Missense_Q2K,Missense_Q228K,Missense_Q2K,Missense_Q2K,Missense_Q115K exm91041 1 145416559 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001316767,NM_213653,NM_213652,NM_202004,NM_145277 NBPF20,NBPF19,NBPF10,NBPF10,HJV,HJV,HJV,HJV,HJV EXON Silent,Silent,Silent,Silent,Missense_E76K,Missense_E302K,Missense_E76K,Missense_E76K,Missense_E189K exm91044 1 145416584 [G/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001316767,NM_213653,NM_213652,NM_202004,NM_145277 NBPF20,NBPF19,NBPF10,NBPF10,HJV,HJV,HJV,HJV,HJV EXON Silent,Silent,Silent,Silent,Missense_A84G,Missense_A310G,Missense_A84G,Missense_A84G,Missense_A197G exm91049 1 145416631 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001316767,NM_213653,NM_213652,NM_202004,NM_145277 NBPF20,NBPF19,NBPF10,NBPF10,HJV,HJV,HJV,HJV,HJV EXON Silent,Silent,Silent,Silent,Nonsense_R100X,Nonsense_R326X,Nonsense_R100X,Nonsense_R100X,Nonsense_R213X rs4970862 1 145421477 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371 NBPF20,NBPF19,NBPF10,NBPF10 Silent,Silent,Silent,Silent exm2268754 1 145421477 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371 NBPF20,NBPF19,NBPF10,NBPF10 Silent,Silent,Silent,Silent rs6661602 1 145428296 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371 NBPF20,NBPF19,NBPF10,NBPF10 Silent,Silent,Silent,Silent exm91068 1 145438959 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006472 NBPF20,NBPF19,NBPF10,NBPF10,TXNIP EXON Silent,Silent,Silent,Silent,Missense_K53E exm91069 1 145439008 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006472 NBPF20,NBPF19,NBPF10,NBPF10,TXNIP EXON Silent,Silent,Silent,Silent,Missense_Y69C exm91077 1 145439620 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006472,NM_001313972 NBPF20,NBPF19,NBPF10,NBPF10,TXNIP,TXNIP EXON Silent,Silent,Silent,Silent,Missense_P93L,Missense_P38L exm91085 1 145440086 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006472,NM_001313972 NBPF20,NBPF19,NBPF10,NBPF10,TXNIP,TXNIP EXON Silent,Silent,Silent,Silent,Missense_P174S,Missense_P119S exm91086 1 145440095 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006472,NM_001313972 NBPF20,NBPF19,NBPF10,NBPF10,TXNIP,TXNIP EXON Silent,Silent,Silent,Silent,Missense_R177W,Missense_R122W exm91087 1 145440096 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006472,NM_001313972 NBPF20,NBPF19,NBPF10,NBPF10,TXNIP,TXNIP EXON Silent,Silent,Silent,Silent,Missense_R177Q,Missense_R122Q exm91092 1 145440346 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006472,NM_001313972 NBPF20,NBPF19,NBPF10,NBPF10,TXNIP,TXNIP EXON Silent,Silent,Silent,Silent,Missense_R218C,Missense_R163C indel.6100 1 145440919 [I/D] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006472,NM_001313972 NBPF20,NBPF19,NBPF10,NBPF10,TXNIP,TXNIP EXON exm91110 1 145440941 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006472,NM_001313972 NBPF20,NBPF19,NBPF10,NBPF10,TXNIP,TXNIP EXON Silent,Silent,Silent,Silent,Missense_R343Q,Missense_R288Q indel.6101 1 145441046 [I/D] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006472,NM_001313972 NBPF20,NBPF19,NBPF10,NBPF10,TXNIP,TXNIP EXON indel.6102 1 145441052 [D/I] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006472,NM_001313972 NBPF20,NBPF19,NBPF10,NBPF10,TXNIP,TXNIP EXON rs4636400 1 145444556 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371 NBPF20,NBPF19,NBPF10,NBPF10 Silent,Silent,Silent,Silent rs16827280 1 145455785 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371 NBPF20,NBPF19,NBPF10,NBPF10 Silent,Silent,Silent,Silent exm91122 1 145457007 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001330685,NM_032305 NBPF20,NBPF19,NBPF10,NBPF10,POLR3GL,POLR3GL EXON Silent,Silent,Silent,Silent,Missense_E162G,Missense_E185G variant.6103 1 145457543 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001330685,NM_032305 NBPF20,NBPF19,NBPF10,NBPF10,POLR3GL,POLR3GL Silent,Silent,Silent,Silent,Silent,Silent variant.6104 1 145457547 [A/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001330685,NM_032305 NBPF20,NBPF19,NBPF10,NBPF10,POLR3GL,POLR3GL Silent,Silent,Silent,Silent,Silent,Silent rs6672807 1 145460000 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001330685,NM_032305 NBPF20,NBPF19,NBPF10,NBPF10,POLR3GL,POLR3GL Silent,Silent,Silent,Silent,Silent,Silent exm91162 1 145474050 [A/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001039888 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD34A EXON Silent,Silent,Silent,Silent,Missense_P241Q exm91170 1 145474301 [A/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001039888 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD34A EXON Silent,Silent,Silent,Silent,Missense_P325T exm91172 1 145474332 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001039888 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD34A EXON Silent,Silent,Silent,Silent,Missense_R335L rs833943 1 145479219 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_153713 NBPF20,NBPF19,NBPF10,NBPF10,LIX1L Silent,Silent,Silent,Silent,Silent rs16826965 1 145492136 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_153713 NBPF20,NBPF19,NBPF10,NBPF10,LIX1L Silent,Silent,Silent,Silent,Silent newrs59285351 1 145508146 [A/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NR_147182,NM_005105 NBPF20,NBPF19,NBPF10,NBPF10,LIX1L-AS1,RBM8A Silent,Silent,Silent,Silent,Silent,Silent exm2265040 1 145517063 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NR_073492,NR_073491,NM_003846,NM_001184795,NR_073493 NBPF20,NBPF19,NBPF10,NBPF10,PEX11B,PEX11B,PEX11B,PEX11B,PEX11B EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm91253 1 145518173 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NR_073492,NR_073491,NM_003846,NM_001184795,NR_073493 NBPF20,NBPF19,NBPF10,NBPF10,PEX11B,PEX11B,PEX11B,PEX11B,PEX11B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_N92S,Missense_N78S,Silent exm91254 1 145518235 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NR_073492,NR_073491,NM_003846,NM_001184795,NR_073493 NBPF20,NBPF19,NBPF10,NBPF10,PEX11B,PEX11B,PEX11B,PEX11B,PEX11B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R113C,Missense_R99C,Silent exm91274 1 145522824 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NR_073492,NR_073491,NM_003846,NM_001184795,NR_073493 NBPF20,NBPF19,NBPF10,NBPF10,PEX11B,PEX11B,PEX11B,PEX11B,PEX11B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R229C,Missense_R215C,Silent exm91279 1 145525085 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Silent,Missense_T7I,Missense_T7I rs12082225 1 145526777 [A/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2231073 1 145527691 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_V19M,Silent,Missense_S44N exm91288 1 145527693 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Synonymous_V19V,Silent,Missense_V45I newrs191112048 1 145528037 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G92S exm91304 1 145528634 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R144H variant.6118 1 145530350 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Nonsense_R58X,Nonsense_R46X,Nonsense_R189X exm1710475 1 145530351 [G/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_R58P,Missense_R46P,Missense_R189P exm91313 1 145530939 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_T93M,Missense_T81M,Missense_T224M exm91315 1 145530980 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_R107W,Missense_R95W,Missense_R238W exm91330 1 145532823 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_R250Q,Missense_R238Q,Missense_R381Q exm91341 1 145533451 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_R314H,Missense_R302H,Missense_R445H exm91343 1 145533551 [C/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_Q347H,Missense_Q335H,Missense_Q478H exm91346 1 145533883 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_M379R,Missense_M367R,Missense_M510R exm91348 1 145533915 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_R390C,Missense_R378C,Missense_R521C exm91351 1 145534122 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_P412S,Missense_P400S,Missense_P543S exm91352 1 145534176 [G/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_Q430E,Missense_Q418E,Missense_Q561E exm91362 1 145534914 [T/A] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_H475L,Missense_H463L,Missense_H606L exm91374 1 145535814 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_R537W,Missense_R525W,Missense_R668W exm91377 1 145535884 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_R560H,Missense_R548H,Missense_R691H variant.6123 1 145535888 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Nonsense_W561X,Nonsense_W549X,Nonsense_W692X exm91379 1 145536012 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_A571T,Missense_A559T,Missense_A702T exm91381 1 145536031 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_T577I,Missense_T565I,Missense_T708I exm91383 1 145536082 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_R594Q,Missense_R582Q,Missense_R725Q exm91386 1 145536872 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_R620Q,Missense_R608Q,Missense_R751Q exm91388 1 145537252 [C/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_R677T,Missense_R665T,Missense_R808T exm91392 1 145537455 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_R691Q,Missense_R679Q,Missense_R822Q exm91393 1 145537513 [A/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_S710R,Missense_S698R,Missense_S841R exm91394 1 145537551 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_S723I,Missense_S711I,Missense_S854I exm91396 1 145537785 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_R744W,Missense_R732W,Missense_R875W rs1109216 1 145538664 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm91404 1 145538740 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_R820C,Missense_R808C,Missense_R951C exm91406 1 145538980 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_V843I,Missense_V831I,Missense_V974I exm91408 1 145539018 [G/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_I855M,Missense_I843M,Missense_I986M exm91409 1 145539046 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_H865Y,Missense_H853Y,Missense_H996Y exm91411 1 145539381 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_Q886R,Missense_Q874R,Missense_Q1017R exm2249870 1 145539694 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Synonymous_N911N,Synonymous_N899N,Synonymous_N1042N exm91415 1 145539694 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Synonymous_N911N,Synonymous_N899N,Synonymous_N1042N exm91421 1 145541460 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_T952M,Missense_T940M,Missense_T1083M exm91423 1 145541479 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_E958D,Missense_E946D,Missense_E1089D exm91425 1 145541489 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_E962K,Missense_E950K,Missense_E1093K exm91426 1 145541526 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_R974H,Missense_R962H,Missense_R1105H exm91428 1 145541806 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_L979P,Missense_L967P,Missense_L1110P exm91431 1 145541827 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_R986Q,Missense_R974Q,Missense_R1117Q indel.6130 1 145542253 [D/I] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON exm91434 1 145542255 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Missense_R1030G,Missense_R1018G,Missense_R1161G exm91436 1 145542273 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Nonsense_Q1036X,Nonsense_Q1024X,Nonsense_Q1167X newrs142018351 1 145542273 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303040,NM_001303041,NM_003637 NBPF20,NBPF19,NBPF10,NBPF10,ITGA10,ITGA10,ITGA10 EXON Silent,Silent,Silent,Silent,Nonsense_Q1036X,Nonsense_Q1024X,Nonsense_Q1167X rs12401622 1 145548864 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371 NBPF20,NBPF19,NBPF10,NBPF10 Silent,Silent,Silent,Silent exm91443 1 145549328 [C/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_I4M,Missense_I4M exm91445 1 145555699 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Silent,Missense_R16K exm91446 1 145555756 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Silent,Missense_R35H exm91450 1 145555811 [A/T] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Silent,Missense_N53K exm91452 1 145555823 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 Silent,Silent,Silent,Silent,Silent,Silent exm91454 1 145556691 [T/A] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 Silent,Silent,Silent,Silent,Silent,Silent exm91463 1 145558233 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_D27G,Missense_D117G exm91465 1 145558244 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_R31C,Missense_R121C exm91466 1 145558265 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_A38S,Missense_A128S exm91478 1 145558835 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_D62N,Missense_D152N exm91479 1 145558859 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_A70T,Missense_A160T newrs151076205 1 145558913 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Nonsense_R88X,Nonsense_R178X exm1710559 1 145560094 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_C104R,Missense_C194R exm91493 1 145560101 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_K106R,Missense_K196R exm91498 1 145560139 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_G119R,Missense_G209R exm91502 1 145560245 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_R154Q,Missense_R244Q exm91505 1 145560253 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_R157W,Missense_R247W exm91506 1 145560893 [C/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_Q160H,Missense_Q250H exm91508 1 145560900 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_V163I,Missense_V253I exm91510 1 145560918 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_A169T,Missense_A259T exm1710564 1 145561110 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_E176D,Missense_E266D exm91515 1 145561169 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_E196G,Missense_E286G exm2275474 1 145561190 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_P203L,Missense_P293L exm91517 1 145561192 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_C204R,Missense_C294R exm91521 1 145561218 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Nonsense_Y212X,Nonsense_Y302X exm91523 1 145561261 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_V227M,Missense_V317M variant.6145 1 145561324 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Nonsense_R248X,Nonsense_R338X exm91527 1 145561330 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Nonsense_Q250X,Nonsense_Q340X exm91528 1 145561334 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_A251V,Missense_A341V indel.6147 1 145561460 [I/D] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON indel.6148 1 145561474 [I/D] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON exm91536 1 145561552 [T/A] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_Y324N,Missense_Y414N exm91537 1 145561594 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_P338S,Missense_P428S exm91544 1 145561724 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_L381P,Missense_L471P exm91545 1 145561730 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_V383G,Missense_V473G exm91546 1 145561765 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_P395S,Missense_P485S exm91548 1 145561782 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_Q400H,Missense_Q490H exm91551 1 145561822 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Nonsense_R414X,Nonsense_R504X exm91560 1 145562087 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_R502Q,Missense_R592Q exm91564 1 145562108 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_L509P,Missense_L599P exm91566 1 145562149 [A/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_L523M,Missense_L613M 1KG_1_145562155 1 145562155 [D/I] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON exm91570 1 145562272 [C/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_R564G,Missense_R654G exm91573 1 145562293 [C/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_E571Q,Missense_E661Q exm91581 1 145562532 [C/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_H650Q,Missense_H740Q exm91596 1 145562935 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_A785T,Missense_A875T exm91598 1 145562938 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_E786K,Missense_E876K exm91600 1 145562990 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_R803L,Missense_R893L exm91603 1 145563011 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_G810E,Missense_G900E exm91607 1 145563071 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_I830T,Missense_I920T exm91608 1 145563082 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Nonsense_R834X,Nonsense_R924X rs10797652 1 145564518 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 Silent,Silent,Silent,Silent,Silent,Silent variant.6156 1 145566776 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 Silent,Silent,Silent,Silent,Silent,Silent exm91614 1 145567084 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON Silent,Silent,Silent,Silent,Missense_N888D,Missense_N978D indel.6157 1 145567718 [I/D] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001280799,NM_144698 NBPF20,NBPF19,NBPF10,NBPF10,ANKRD35,ANKRD35 EXON exm91622 1 145576091 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006099 NBPF20,NBPF19,NBPF10,NBPF10,PIAS3 EXON Silent,Silent,Silent,Silent,Missense_G5C variant.6158 1 145578224 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006099 NBPF20,NBPF19,NBPF10,NBPF10,PIAS3 EXON Silent,Silent,Silent,Silent,Nonsense_R63X exm91642 1 145578279 [A/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006099 NBPF20,NBPF19,NBPF10,NBPF10,PIAS3 EXON Silent,Silent,Silent,Silent,Missense_P81H exm91648 1 145578333 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006099 NBPF20,NBPF19,NBPF10,NBPF10,PIAS3 EXON Silent,Silent,Silent,Silent,Missense_T99M variant.6160 1 145579270 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006099 NBPF20,NBPF19,NBPF10,NBPF10,PIAS3 EXON Silent,Silent,Silent,Silent,Nonsense_Q203X exm91664 1 145579331 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006099 NBPF20,NBPF19,NBPF10,NBPF10,PIAS3 EXON Silent,Silent,Silent,Silent,Missense_P223L exm91682 1 145583938 [C/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006099 NBPF20,NBPF19,NBPF10,NBPF10,PIAS3 EXON Silent,Silent,Silent,Silent,Missense_S390C exm91698 1 145584531 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006099 NBPF20,NBPF19,NBPF10,NBPF10,PIAS3 EXON Silent,Silent,Silent,Silent,Missense_M500V variant.6161 1 145585422 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006099 NBPF20,NBPF19,NBPF10,NBPF10,PIAS3 EXON Silent,Silent,Silent,Silent,Nonsense_R563X exm91706 1 145585425 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006099 NBPF20,NBPF19,NBPF10,NBPF10,PIAS3 EXON Silent,Silent,Silent,Silent,Missense_G564R exm91707 1 145585453 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006099 NBPF20,NBPF19,NBPF10,NBPF10,PIAS3 EXON Silent,Silent,Silent,Silent,Missense_L573P exm91716 1 145585510 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006099 NBPF20,NBPF19,NBPF10,NBPF10,PIAS3 EXON Silent,Silent,Silent,Silent,Missense_R592H exm91720 1 145585576 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006099 NBPF20,NBPF19,NBPF10,NBPF10,PIAS3 EXON Silent,Silent,Silent,Silent,Missense_G614V exm91721 1 145585582 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006099 NBPF20,NBPF19,NBPF10,NBPF10,PIAS3 EXON Silent,Silent,Silent,Silent,Missense_S616F exm91722 1 145585595 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006099 NBPF20,NBPF19,NBPF10,NBPF10,PIAS3 EXON Silent,Silent,Silent,Silent,Missense_C620W exm2273333 1 145586309 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006099 NBPF20,NBPF19,NBPF10,NBPF10,PIAS3 EXON Silent,Silent,Silent,Silent,Silent exm2273334 1 145586403 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_006099 NBPF20,NBPF19,NBPF10,NBPF10,PIAS3 EXON Silent,Silent,Silent,Silent,Silent exm91726 1 145586596 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001012758 NBPF20,NBPF19,NBPF10,NBPF10,NUDT17 EXON Silent,Silent,Silent,Silent,Missense_G327E exm91727 1 145586602 [A/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001012758 NBPF20,NBPF19,NBPF10,NBPF10,NUDT17 EXON Silent,Silent,Silent,Silent,Missense_G325V exm91731 1 145586672 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001012758 NBPF20,NBPF19,NBPF10,NBPF10,NUDT17 EXON Silent,Silent,Silent,Silent,Missense_S302G exm91736 1 145586680 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001012758 NBPF20,NBPF19,NBPF10,NBPF10,NUDT17 EXON Silent,Silent,Silent,Silent,Missense_P299L exm1710628 1 145586903 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001012758 NBPF20,NBPF19,NBPF10,NBPF10,NUDT17 EXON Silent,Silent,Silent,Silent,Missense_S262F exm91754 1 145586940 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001012758 NBPF20,NBPF19,NBPF10,NBPF10,NUDT17 EXON Silent,Silent,Silent,Silent,Missense_E250K exm91756 1 145587383 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001012758 NBPF20,NBPF19,NBPF10,NBPF10,NUDT17 EXON Silent,Silent,Silent,Silent,Missense_G233R newrs144514921 1 145587476 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001012758 NBPF20,NBPF19,NBPF10,NBPF10,NUDT17 EXON Silent,Silent,Silent,Silent,Nonsense_Q202X exm91764 1 145587481 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001012758 NBPF20,NBPF19,NBPF10,NBPF10,NUDT17 EXON Silent,Silent,Silent,Silent,Missense_R200Q variant.6172 1 145587740 [A/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001012758 NBPF20,NBPF19,NBPF10,NBPF10,NUDT17 EXON Silent,Silent,Silent,Silent,Nonsense_E192X exm91773 1 145588378 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001012758 NBPF20,NBPF19,NBPF10,NBPF10,NUDT17 EXON Silent,Silent,Silent,Silent,Synonymous_E165E exm91783 1 145588901 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001012758 NBPF20,NBPF19,NBPF10,NBPF10,NUDT17 EXON Silent,Silent,Silent,Silent,Missense_S116N exm91796 1 145589318 [C/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001012758 NBPF20,NBPF19,NBPF10,NBPF10,NUDT17 EXON Silent,Silent,Silent,Silent,Missense_P37R variant.6178 1 145592768 [A/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C EXON Silent,Silent,Silent,Silent,Missense_L522F,Missense_L509F variant.6179 1 145595118 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C Silent,Silent,Silent,Silent,Silent,Silent exm91828 1 145596903 [A/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C Silent,Silent,Silent,Silent,Silent,Silent indel.6181 1 145597000 [I/D] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C EXON exm91832 1 145597014 [C/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C EXON Silent,Silent,Silent,Silent,Missense_Q384E,Missense_Q371E exm91833 1 145597025 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C EXON Silent,Silent,Silent,Silent,Missense_R380H,Missense_R367H exm91841 1 145598285 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C EXON Silent,Silent,Silent,Silent,Missense_V336A,Missense_V323A rs11587821 1 145599038 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C Silent,Silent,Silent,Silent,Silent,Silent exm91860 1 145606361 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C EXON Silent,Silent,Silent,Silent,Missense_K211E,Missense_K198E exm91861 1 145608122 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C EXON Silent,Silent,Silent,Silent,Missense_K205T,Missense_K192T exm91862 1 145608146 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C EXON Silent,Silent,Silent,Silent,Missense_E197G,Missense_E184G variant.6185 1 145608249 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C EXON Silent,Silent,Silent,Silent,Nonsense_R163X,Nonsense_R150X variant.6186 1 145608509 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C EXON Silent,Silent,Silent,Silent,Missense_S113G,Missense_S100G indel.6187 1 145608524 [I/D] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C EXON exm91874 1 145608556 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C EXON Silent,Silent,Silent,Silent,Missense_R97Q,Missense_R84Q exm91876 1 145608595 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C EXON Silent,Silent,Silent,Silent,Missense_G84D,Missense_G71D exm91877 1 145608608 [G/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C EXON Silent,Silent,Silent,Silent,Missense_V80L,Missense_V67L exm91879 1 145608635 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C EXON Silent,Silent,Silent,Silent,Missense_V71I,Missense_V58I exm91882 1 145609240 [A/T] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001303456,NM_006468 NBPF20,NBPF19,NBPF10,NBPF10,POLR3C,POLR3C EXON Silent,Silent,Silent,Silent,Missense_S46C,Missense_S33C rs4246521 1 145625979 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_014455 NBPF20,NBPF19,NBPF10,NBPF10,RNF115 Silent,Silent,Silent,Silent,Silent rs10752832 1 145657708 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_014455 NBPF20,NBPF19,NBPF10,NBPF10,RNF115 Silent,Silent,Silent,Silent,Silent exm91925 1 145688153 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_014455 NBPF20,NBPF19,NBPF10,NBPF10,RNF115 EXON Silent,Silent,Silent,Silent,Missense_S283N indel.6188 1 145688190 [I/D] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_014455 NBPF20,NBPF19,NBPF10,NBPF10,RNF115 EXON rs10910843 1 145691112 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371 NBPF20,NBPF19,NBPF10,NBPF10 Silent,Silent,Silent,Silent indel.6189 1 145698921 [I/D] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_007053,NR_103845 NBPF20,NBPF19,NBPF10,NBPF10,CD160,CD160 exm91941 1 145698959 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_007053,NR_103845 NBPF20,NBPF19,NBPF10,NBPF10,CD160,CD160 EXON Silent,Silent,Silent,Silent,Missense_L178F,Silent indel.6192 1 145704082 [D/I] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_007053,NR_103845 NBPF20,NBPF19,NBPF10,NBPF10,CD160,CD160 EXON exm1710711 1 145704116 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_007053,NR_103845 NBPF20,NBPF19,NBPF10,NBPF10,CD160,CD160 EXON Silent,Silent,Silent,Silent,Missense_Q101K,Silent exm91952 1 145704146 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_007053,NR_103845 NBPF20,NBPF19,NBPF10,NBPF10,CD160,CD160 EXON Silent,Silent,Silent,Silent,Missense_I91V,Silent exm91954 1 145704167 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_007053,NR_103845 NBPF20,NBPF19,NBPF10,NBPF10,CD160,CD160 EXON Silent,Silent,Silent,Silent,Missense_G84R,Silent exm91961 1 145704302 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_007053,NR_103845 NBPF20,NBPF19,NBPF10,NBPF10,CD160,CD160 EXON Silent,Silent,Silent,Silent,Nonsense_R39X,Silent exm91963 1 145704304 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_007053,NR_103845 NBPF20,NBPF19,NBPF10,NBPF10,CD160,CD160 EXON Silent,Silent,Silent,Silent,Missense_T38M,Silent rs10910845 1 145723120 [A/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371 NBPF20,NBPF19,NBPF10,NBPF10 Silent,Silent,Silent,Silent exm-rs12129861 1 145725689 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371 NBPF20,NBPF19,NBPF10,NBPF10 Silent,Silent,Silent,Silent rs1298954 1 145730160 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_002614,NM_001201326,NM_001201325 NBPF20,NBPF19,NBPF10,NBPF10,PDZK1,PDZK1,PDZK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2264899 1 145730160 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_002614,NM_001201326,NM_001201325 NBPF20,NBPF19,NBPF10,NBPF10,PDZK1,PDZK1,PDZK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm91970 1 145747065 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_002614,NM_001201326,NM_001201325 NBPF20,NBPF19,NBPF10,NBPF10,PDZK1,PDZK1,PDZK1 EXON Silent,Silent,Silent,Silent,Nonsense_R8X,Nonsense_R8X,Nonsense_R8X variant.6197 1 145747116 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_002614,NM_001201326,NM_001201325 NBPF20,NBPF19,NBPF10,NBPF10,PDZK1,PDZK1,PDZK1 EXON Silent,Silent,Silent,Silent,Nonsense_R25X,Nonsense_R25X,Nonsense_R25X indel.6198 1 145748588 [I/D] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_002614,NM_001201326,NM_001201325 NBPF20,NBPF19,NBPF10,NBPF10,PDZK1,PDZK1,PDZK1 indel.6200 1 145762212 [D/I] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_002614,NM_001201326,NM_001201325 NBPF20,NBPF19,NBPF10,NBPF10,PDZK1,PDZK1,PDZK1 EXON exm2231083 1 145765424 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001097613,NR_036541,NM_001097612 NBPF20,NBPF19,NBPF10,NBPF10,GPR89A,GPR89A,GPR89A EXON Silent,Silent,Silent,Silent,Missense_A344V,Silent,Missense_A369V exm2231084 1 145765425 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001097613,NR_036541,NM_001097612 NBPF20,NBPF19,NBPF10,NBPF10,GPR89A,GPR89A,GPR89A EXON Silent,Silent,Silent,Silent,Missense_A344T,Silent,Missense_A369T indel.6203 1 145771700 [D/I] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001097613,NR_036541,NM_001097612 NBPF20,NBPF19,NBPF10,NBPF10,GPR89A,GPR89A,GPR89A EXON newrs139126449 1 145818767 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NM_001097613,NR_036541,NM_001097612 NBPF20,NBPF19,NBPF10,NBPF10,GPR89A,GPR89A,GPR89A EXON Silent,Silent,Silent,Silent,Synonymous_E9E,Silent,Synonymous_E34E kgp5255167 1 145985385 [T/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NR_104217,NR_146087 NBPF20,NBPF19,NBPF10,NBPF10,NBPF25P,PDE4DIPP1 Silent,Silent,Silent,Silent,Silent,Silent kgp88774 1 145994931 [T/C] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NR_104217,NR_146087 NBPF20,NBPF19,NBPF10,NBPF10,NBPF25P,PDE4DIPP1 Silent,Silent,Silent,Silent,Silent,Silent kgp15590673 1 146330584 [A/G] NM_001278267,NM_001351365,NM_001039703,NM_001302371,NR_104217,NM_001351365 NBPF20,NBPF19,NBPF10,NBPF10,NBPF25P,NBPF19 Silent,Silent,Silent,Silent,Silent,Silent rs10900384 1 146501348 [T/C] NM_001351365,NR_024442 NBPF19,LOC728989 Silent,Silent rs12142005 1 146506691 [T/C] NM_001351365,NR_024442 NBPF19,LOC728989 Silent,Silent rs1853782 1 146508774 [T/C] NM_001351365,NR_024442 NBPF19,LOC728989 Silent,Silent exm-rs12122100 1 146508934 [T/C] NM_001351365,NR_024442 NBPF19,LOC728989 Silent,Silent rs1969869 1 146510112 [T/G] NM_001351365,NR_024442 NBPF19,LOC728989 Silent,Silent rs6661540 1 146512899 [A/G] NM_001351365,NR_024442 NBPF19,LOC728989 Silent,Silent rs6657631 1 146517465 [A/G] NM_001351365 NBPF19 Silent rs580852 1 146523045 [A/G] NM_001351365 NBPF19 Silent rs647596 1 146535394 [A/C] NM_001351365 NBPF19 Silent rs2477569 1 146547809 [T/G] NM_001351365 NBPF19 Silent rs12129691 1 146554147 [T/C] NM_001351365 NBPF19 Silent rs4950357 1 146556146 [T/C] NM_001351365 NBPF19 Silent rs1867142 1 146556821 [T/G] NM_001351365 NBPF19 Silent rs4950361 1 146559165 [A/G] NM_001351365 NBPF19 Silent exm-rs11239930 1 146560564 [A/G] NM_001351365 NBPF19 Silent rs976620 1 146564908 [A/C] NM_001351365 NBPF19 Silent exm2265041 1 146568955 [A/G] NM_001351365 NBPF19 Silent rs7521249 1 146572116 [A/G] NM_001351365,NR_103466 NBPF19,NBPF13P Silent,Silent rs750467 1 146589758 [T/C] NM_001351365 NBPF19 Silent kgp25313033 1 146626803 [A/G] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent rs6937 1 146626922 [T/C] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp15787611 1 146627109 [G/C] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp25038084 1 146627315 [A/G] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp15552278 1 146627432 [A/G] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp10263715 1 146628374 [A/C] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp1727928 1 146628479 [G/C] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp4942404 1 146628635 [A/G] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp5680701 1 146628742 [T/G] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp15898250 1 146629288 [T/C] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp22822212 1 146629402 [T/C] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp15448676 1 146629417 [T/C] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp15689928 1 146629463 [T/C] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp10292846 1 146629691 [A/C] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp15656074 1 146629797 [T/A] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp10078254 1 146629916 [T/C] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp15787125 1 146629981 [A/G] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp15189603 1 146630048 [A/G] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp3614852 1 146630173 [A/C] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp25106138 1 146630292 [A/C] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp15661136 1 146630503 [T/C] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent kgp24787628 1 146630811 [A/G] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent rs2304893 1 146630916 [T/C] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Silent rs1036851 1 146633750 [T/C] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 Silent,Silent,Silent,Silent exm92112 1 146638152 [T/C] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Missense_V155I exm92120 1 146639505 [T/C] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Missense_G55E kgp15870028 1 146639505 [T/C] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Missense_G55E rs1348316 1 146643555 [A/G] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 Silent,Silent,Silent,Silent kgp4905185 1 146643580 [A/G] NM_001351365,NR_103871,NR_103870,NM_005399 NBPF19,PRKAB2,PRKAB2,PRKAB2 EXON Silent,Silent,Silent,Synonymous_L48L rs720609 1 146653028 [T/C] NM_001351365,NM_001348451 NBPF19,CHD1L Silent,Silent kgp6053991 1 146656040 [T/C] NM_001351365,NM_001348451,NM_001144829 NBPF19,CHD1L,FMO5 EXON Silent,Silent,Silent kgp25065922 1 146656179 [A/G] NM_001351365,NM_001348451,NM_001144829 NBPF19,CHD1L,FMO5 EXON Silent,Silent,Synonymous_P429P kgp8954974 1 146658360 [A/G] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Silent,Silent,Silent exm92138 1 146658563 [A/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Silent,Missense_R506S,Silent exm92141 1 146658604 [T/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Silent,Missense_D493N,Silent rs7512450 1 146660395 [A/G] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 Silent,Silent,Silent,Silent,Silent rs28381218 1 146661814 [G/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Missense_P400A,Missense_P400A,Missense_A282G exm92153 1 146672745 [T/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Missense_Q391R,Missense_Q391R,Silent exm92157 1 146672815 [T/G] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Missense_I368L,Missense_I368L,Silent indel.6213 1 146672849 [D/I] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON rs1044848 1 146672866 [A/G] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Missense_S351P,Missense_S351P,Silent exm92161 1 146672890 [T/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Missense_V343I,Missense_V343I,Silent rs894469 1 146672906 [T/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Synonymous_P337P,Synonymous_P337P,Silent exm92166 1 146672962 [T/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Missense_R319G,Missense_R319G,Silent newrs145231434 1 146673001 [A/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Nonsense_E306X,Nonsense_E306X,Silent variant.6215 1 146673088 [T/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 Silent,Silent,Silent,Silent,Silent newrs140667185 1 146680442 [A/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Nonsense_E268X,Nonsense_E268X,Nonsense_E268X exm92186 1 146680559 [T/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Missense_G229R,Missense_G229R,Missense_G229R exm92189 1 146680614 [A/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 Silent,Silent,Silent,Silent,Silent variant.6218 1 146684047 [A/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Nonsense_G182X,Nonsense_G182X,Nonsense_G182X exm92191 1 146684060 [A/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Nonsense_Y177X,Nonsense_Y177X,Nonsense_Y177X var_1_146684060 1 146684060 [A/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Nonsense_Y177X,Nonsense_Y177X,Nonsense_Y177X variant.6220 1 146684078 [T/G] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Nonsense_Y171X,Nonsense_Y171X,Nonsense_Y171X exm92194 1 146684095 [T/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Missense_K166E,Missense_K166E,Missense_K166E rs2297753 1 146684131 [A/G] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 Silent,Silent,Silent,Silent,Silent variant.6223 1 146684887 [A/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Nonsense_E159X,Nonsense_E159X,Nonsense_E159X 1KG_1_146687322 1 146687322 [D/I] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 exm92208 1 146687509 [T/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Missense_N47D,Missense_N47D,Missense_N47D exm-rs10900325 1 146692174 [T/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 Silent,Silent,Silent,Silent,Silent rs2354432 1 146693229 [T/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 Silent,Silent,Silent,Silent,Silent rs1123333 1 146694571 [A/G] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 Silent,Silent,Silent,Silent,Silent exm2268755 1 146694922 [T/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 Silent,Silent,Silent,Silent,Silent variant.6226 1 146696482 [T/G] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 Silent,Silent,Silent,Silent,Silent indel.6227 1 146696659 [D/I] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON kgp25321246 1 146696828 [A/C] NM_001351365,NM_001348451,NM_001144829,NM_001461,NM_001144830 NBPF19,CHD1L,FMO5,FMO5,FMO5 EXON Silent,Silent,Silent,Silent,Silent rs6703187 1 146698906 [A/G] NM_001351365,NM_001348451 NBPF19,CHD1L Silent,Silent rs11239951 1 146709784 [T/C] NM_001351365,NM_001348451 NBPF19,CHD1L Silent,Silent rs11239953 1 146717564 [T/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm92239 1 146727553 [T/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_R73C,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R45C,Silent,Silent,Missense_R32C,Silent,Silent,Silent,Silent,Silent,Missense_R32C,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R145C,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R73C rs12736102 1 146729348 [T/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm92256 1 146736111 [A/G] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_G131R,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G103R,Silent,Silent,Missense_G90R,Silent,Silent,Silent,Silent,Silent,Missense_G90R,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G40R,Silent,Silent,Silent,Missense_G203R,Missense_G51R,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G131R indel.6232 1 146736175 [I/D] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON variant.6233 1 146736191 [A/G] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Synonymous_E157E,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_E129E,Silent,Silent,Synonymous_E116E,Silent,Silent,Silent,Silent,Silent,Synonymous_E116E,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_E66E,Silent,Silent,Silent,Synonymous_E229E,Synonymous_E77E,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_E157E variant.6234 1 146736194 [A/G] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Synonymous_V158V,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_V130V,Silent,Silent,Synonymous_V117V,Silent,Silent,Silent,Silent,Silent,Synonymous_V117V,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_V67V,Silent,Silent,Silent,Synonymous_V230V,Synonymous_V78V,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_V158V exm92263 1 146736211 [A/G] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_R164H,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R136H,Silent,Silent,Missense_R123H,Silent,Silent,Silent,Silent,Silent,Missense_R123H,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R73H,Silent,Silent,Silent,Missense_R236H,Missense_R84H,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R164H exm92270 1 146737632 [T/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Nonsense_R189X,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R161X,Silent,Silent,Nonsense_R148X,Silent,Silent,Silent,Silent,Silent,Nonsense_R148X,Nonsense_R57X,Silent,Silent,Silent,Silent,Silent,Nonsense_R98X,Silent,Silent,Silent,Nonsense_R261X,Nonsense_R109X,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R189X newrs144288940 1 146737632 [T/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Nonsense_R189X,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R161X,Silent,Silent,Nonsense_R148X,Silent,Silent,Silent,Silent,Silent,Nonsense_R148X,Nonsense_R57X,Silent,Silent,Silent,Silent,Silent,Nonsense_R98X,Silent,Silent,Silent,Nonsense_R261X,Nonsense_R109X,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R189X exm2249882 1 146737700 [A/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Synonymous_S211S,Silent,Synonymous_S2S,Silent,Silent,Synonymous_S2S,Silent,Synonymous_S2S,Synonymous_S183S,Silent,Silent,Synonymous_S170S,Silent,Synonymous_S2S,Synonymous_S2S,Synonymous_S2S,Silent,Synonymous_S170S,Synonymous_S79S,Silent,Silent,Synonymous_S2S,Silent,Silent,Synonymous_S120S,Synonymous_S2S,Synonymous_S2S,Silent,Synonymous_S283S,Synonymous_S131S,Silent,Synonymous_S2S,Synonymous_S2S,Synonymous_S2S,Silent,Silent,Synonymous_S211S exm92288 1 146740502 [C/G] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_H278Q,Silent,Missense_H69Q,Silent,Silent,Missense_H69Q,Silent,Missense_H69Q,Missense_H250Q,Silent,Silent,Missense_H237Q,Silent,Missense_H69Q,Missense_H69Q,Missense_H69Q,Silent,Missense_H237Q,Missense_H146Q,Silent,Silent,Missense_H69Q,Silent,Silent,Missense_H187Q,Missense_H69Q,Missense_H69Q,Silent,Missense_H350Q,Missense_H198Q,Silent,Missense_H69Q,Missense_H69Q,Missense_H69Q,Silent,Silent,Missense_H278Q indel.6237 1 146747130 [I/D] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON exm92304 1 146747766 [A/G] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm92305 1 146747784 [T/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_R396W,Silent,Missense_R187W,Silent,Silent,Missense_R187W,Silent,Missense_R187W,Missense_R368W,Silent,Silent,Missense_R355W,Silent,Missense_R187W,Missense_R187W,Missense_R187W,Silent,Missense_R355W,Missense_R264W,Silent,Silent,Missense_R187W,Silent,Silent,Missense_R305W,Missense_R187W,Missense_R187W,Silent,Missense_R468W,Missense_R316W,Silent,Missense_R187W,Missense_R187W,Missense_R187W,Silent,Silent,Missense_R396W exm92306 1 146747797 [A/G] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_R400Q,Silent,Missense_R191Q,Silent,Silent,Missense_R191Q,Silent,Missense_R191Q,Missense_R372Q,Silent,Silent,Missense_R359Q,Silent,Missense_R191Q,Missense_R191Q,Missense_R191Q,Silent,Missense_R359Q,Missense_R268Q,Silent,Silent,Missense_R191Q,Silent,Silent,Missense_R309Q,Missense_R191Q,Missense_R191Q,Silent,Missense_R472Q,Missense_R320Q,Silent,Missense_R191Q,Missense_R191Q,Missense_R191Q,Silent,Silent,Missense_R400Q rs6687544 1 146749067 [T/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.6240 1 146751742 [I/D] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON exm2249883 1 146751782 [A/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Synonymous_I469I,Silent,Synonymous_I260I,Silent,Silent,Synonymous_I260I,Silent,Synonymous_I260I,Synonymous_I441I,Silent,Silent,Synonymous_I428I,Silent,Synonymous_I260I,Synonymous_I260I,Synonymous_I260I,Silent,Synonymous_I428I,Synonymous_I337I,Silent,Silent,Synonymous_I260I,Silent,Silent,Synonymous_I378I,Synonymous_I260I,Synonymous_I260I,Silent,Synonymous_I541I,Synonymous_I389I,Silent,Synonymous_I260I,Synonymous_I260I,Synonymous_I260I,Silent,Silent,Synonymous_I469I exm92316 1 146751782 [A/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Synonymous_I469I,Silent,Synonymous_I260I,Silent,Silent,Synonymous_I260I,Silent,Synonymous_I260I,Synonymous_I441I,Silent,Silent,Synonymous_I428I,Silent,Synonymous_I260I,Synonymous_I260I,Synonymous_I260I,Silent,Synonymous_I428I,Synonymous_I337I,Silent,Silent,Synonymous_I260I,Silent,Silent,Synonymous_I378I,Synonymous_I260I,Synonymous_I260I,Silent,Synonymous_I541I,Synonymous_I389I,Silent,Synonymous_I260I,Synonymous_I260I,Synonymous_I260I,Silent,Silent,Synonymous_I469I variant.6242 1 146756149 [T/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Nonsense_R539X,Silent,Nonsense_R330X,Silent,Silent,Nonsense_R330X,Silent,Nonsense_R330X,Nonsense_R511X,Silent,Silent,Nonsense_R498X,Silent,Nonsense_R330X,Nonsense_R330X,Nonsense_R330X,Silent,Nonsense_R498X,Nonsense_R407X,Silent,Silent,Nonsense_R330X,Silent,Silent,Nonsense_R448X,Nonsense_R330X,Nonsense_R330X,Silent,Nonsense_R611X,Nonsense_R459X,Silent,Nonsense_R330X,Nonsense_R330X,Nonsense_R330X,Silent,Silent,Nonsense_R539X indel.6244 1 146757075 [I/D] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON exm92332 1 146757092 [A/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_E577A,Silent,Missense_E368A,Silent,Silent,Missense_E368A,Silent,Missense_E368A,Missense_E549A,Silent,Silent,Missense_E536A,Silent,Missense_E368A,Missense_E368A,Missense_E368A,Silent,Missense_E536A,Missense_E445A,Silent,Silent,Missense_E368A,Silent,Silent,Missense_E486A,Missense_E368A,Missense_E368A,Silent,Missense_E649A,Missense_E497A,Silent,Missense_E368A,Missense_E368A,Missense_E368A,Silent,Silent,Missense_E577A indel.6245 1 146757112 [I/D] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON indel.6246 1 146757118 [I/D] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON exm92336 1 146757134 [A/G] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_R591K,Silent,Missense_R382K,Silent,Silent,Missense_R382K,Silent,Missense_R382K,Missense_R563K,Silent,Silent,Missense_R550K,Silent,Missense_R382K,Missense_R382K,Missense_R382K,Silent,Missense_R550K,Missense_R459K,Silent,Silent,Missense_R382K,Silent,Silent,Missense_R500K,Missense_R382K,Missense_R382K,Silent,Missense_R663K,Missense_R511K,Silent,Missense_R382K,Missense_R382K,Missense_R382K,Silent,Silent,Missense_R591K exm92343 1 146758029 [C/G] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_E619D,Silent,Missense_E410D,Silent,Silent,Missense_E410D,Silent,Missense_E410D,Missense_E591D,Silent,Silent,Missense_E578D,Silent,Missense_E410D,Missense_E410D,Missense_E410D,Silent,Missense_E578D,Missense_E487D,Silent,Silent,Missense_E410D,Silent,Silent,Missense_E528D,Missense_E410D,Missense_E410D,Silent,Missense_E691D,Missense_E539D,Silent,Missense_E410D,Missense_E410D,Missense_E410D,Silent,Silent,Missense_E619D exm92345 1 146758054 [A/G] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_G628R,Silent,Missense_G419R,Silent,Silent,Missense_G419R,Silent,Missense_G419R,Missense_G600R,Silent,Silent,Missense_G587R,Silent,Missense_G419R,Missense_G419R,Missense_G419R,Silent,Missense_G587R,Missense_G496R,Silent,Silent,Missense_G419R,Silent,Silent,Missense_G537R,Missense_G419R,Missense_G419R,Silent,Missense_G700R,Missense_G548R,Silent,Missense_G419R,Missense_G419R,Missense_G419R,Silent,Silent,Missense_G628R exm92347 1 146758135 [A/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_P655T,Silent,Missense_P446T,Silent,Silent,Missense_P446T,Silent,Missense_P446T,Missense_P627T,Silent,Silent,Missense_P614T,Silent,Missense_P446T,Missense_P446T,Missense_P446T,Silent,Missense_P614T,Missense_P523T,Silent,Silent,Missense_P446T,Silent,Silent,Missense_P564T,Missense_P446T,Missense_P446T,Silent,Missense_P727T,Missense_P575T,Silent,Missense_P446T,Missense_P446T,Missense_P446T,Silent,Silent,Missense_P655T exm92348 1 146758168 [T/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_H666Y,Silent,Missense_H457Y,Silent,Silent,Missense_H457Y,Silent,Missense_H457Y,Missense_H638Y,Silent,Silent,Missense_H625Y,Silent,Missense_H457Y,Missense_H457Y,Missense_H457Y,Silent,Missense_H625Y,Missense_H534Y,Silent,Silent,Missense_H457Y,Silent,Silent,Missense_H575Y,Missense_H457Y,Missense_H457Y,Silent,Missense_H738Y,Missense_H586Y,Silent,Missense_H457Y,Missense_H457Y,Missense_H457Y,Silent,Silent,Missense_H666Y newrs190301424 1 146759364 [T/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Nonsense_R686X,Silent,Nonsense_R477X,Silent,Silent,Nonsense_R477X,Silent,Nonsense_R477X,Nonsense_R658X,Silent,Silent,Nonsense_R645X,Silent,Nonsense_R477X,Nonsense_R477X,Nonsense_R477X,Silent,Nonsense_R645X,Nonsense_R554X,Silent,Silent,Nonsense_R477X,Silent,Silent,Nonsense_R595X,Nonsense_R477X,Nonsense_R477X,Silent,Nonsense_R758X,Nonsense_R606X,Silent,Nonsense_R477X,Nonsense_R477X,Nonsense_R477X,Silent,Silent,Nonsense_R686X exm92357 1 146759387 [A/G] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_I693M,Silent,Missense_I484M,Silent,Silent,Missense_I484M,Silent,Missense_I484M,Missense_I665M,Silent,Silent,Missense_I652M,Silent,Missense_I484M,Missense_I484M,Missense_I484M,Silent,Missense_I652M,Missense_I561M,Silent,Silent,Missense_I484M,Silent,Silent,Missense_I602M,Missense_I484M,Missense_I484M,Silent,Missense_I765M,Missense_I613M,Silent,Missense_I484M,Missense_I484M,Missense_I484M,Silent,Silent,Missense_I693M var_1_146759412 1 146759412 [A/G] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_D702N,Silent,Missense_D493N,Silent,Silent,Missense_D493N,Silent,Missense_D493N,Missense_D674N,Silent,Silent,Missense_D661N,Silent,Missense_D493N,Missense_D493N,Missense_D493N,Silent,Missense_D661N,Missense_D570N,Silent,Silent,Missense_D493N,Silent,Silent,Missense_D611N,Missense_D493N,Missense_D493N,Silent,Missense_D774N,Missense_D622N,Silent,Missense_D493N,Missense_D493N,Missense_D493N,Silent,Silent,Missense_D702N exm92361 1 146763171 [T/A] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_S704R,Silent,Missense_S495R,Silent,Silent,Missense_S495R,Silent,Missense_S495R,Missense_S676R,Silent,Silent,Missense_S663R,Silent,Missense_S495R,Missense_S495R,Missense_S495R,Silent,Missense_S663R,Missense_S572R,Silent,Silent,Missense_S495R,Silent,Silent,Missense_S613R,Missense_S495R,Missense_S495R,Silent,Missense_S776R,Missense_S624R,Silent,Missense_S495R,Missense_S495R,Missense_S495R,Silent,Silent,Missense_S704R newrs149664186 1 146765310 [T/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Nonsense_Q732X,Silent,Nonsense_Q523X,Silent,Silent,Nonsense_Q523X,Silent,Nonsense_Q523X,Nonsense_Q704X,Silent,Silent,Nonsense_Q691X,Silent,Nonsense_Q523X,Nonsense_Q523X,Nonsense_Q523X,Silent,Nonsense_Q691X,Nonsense_Q600X,Silent,Silent,Nonsense_Q523X,Silent,Silent,Nonsense_Q641X,Nonsense_Q523X,Nonsense_Q523X,Silent,Nonsense_Q804X,Nonsense_Q652X,Silent,Nonsense_Q523X,Nonsense_Q523X,Nonsense_Q523X,Silent,Silent,Nonsense_Q732X exm92368 1 146765310 [T/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Nonsense_Q732X,Silent,Nonsense_Q523X,Silent,Silent,Nonsense_Q523X,Silent,Nonsense_Q523X,Nonsense_Q704X,Silent,Silent,Nonsense_Q691X,Silent,Nonsense_Q523X,Nonsense_Q523X,Nonsense_Q523X,Silent,Nonsense_Q691X,Nonsense_Q600X,Silent,Silent,Nonsense_Q523X,Silent,Silent,Nonsense_Q641X,Nonsense_Q523X,Nonsense_Q523X,Silent,Nonsense_Q804X,Nonsense_Q652X,Silent,Nonsense_Q523X,Nonsense_Q523X,Nonsense_Q523X,Silent,Silent,Nonsense_Q732X exm92369 1 146765317 [A/G] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_R734H,Silent,Missense_R525H,Silent,Silent,Missense_R525H,Silent,Missense_R525H,Missense_R706H,Silent,Silent,Missense_R693H,Silent,Missense_R525H,Missense_R525H,Missense_R525H,Silent,Missense_R693H,Missense_R602H,Silent,Silent,Missense_R525H,Silent,Silent,Missense_R643H,Missense_R525H,Missense_R525H,Silent,Missense_R806H,Missense_R654H,Silent,Missense_R525H,Missense_R525H,Missense_R525H,Silent,Silent,Missense_R734H exm92371 1 146765358 [G/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_L748V,Silent,Missense_L539V,Silent,Silent,Missense_L539V,Silent,Missense_L539V,Missense_L720V,Silent,Silent,Missense_L707V,Silent,Missense_L539V,Missense_L539V,Missense_L539V,Silent,Missense_L707V,Missense_L616V,Silent,Silent,Missense_L539V,Silent,Silent,Missense_L657V,Missense_L539V,Missense_L539V,Silent,Missense_L820V,Missense_L668V,Silent,Missense_L539V,Missense_L539V,Missense_L539V,Silent,Silent,Missense_L748V exm92372 1 146765361 [A/G] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_E749K,Silent,Missense_E540K,Silent,Silent,Missense_E540K,Silent,Missense_E540K,Missense_E721K,Silent,Silent,Missense_E708K,Silent,Missense_E540K,Missense_E540K,Missense_E540K,Silent,Missense_E708K,Missense_E617K,Silent,Silent,Missense_E540K,Silent,Silent,Missense_E658K,Missense_E540K,Missense_E540K,Silent,Missense_E821K,Missense_E669K,Silent,Missense_E540K,Missense_E540K,Missense_E540K,Silent,Silent,Missense_E749K exm92373 1 146765379 [A/G] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_I755V,Silent,Missense_I546V,Silent,Silent,Missense_I546V,Silent,Missense_I546V,Missense_I727V,Silent,Silent,Missense_I714V,Silent,Missense_I546V,Missense_I546V,Missense_I546V,Silent,Missense_I714V,Missense_I623V,Silent,Silent,Missense_I546V,Silent,Silent,Missense_I664V,Missense_I546V,Missense_I546V,Silent,Missense_I827V,Missense_I675V,Silent,Missense_I546V,Missense_I546V,Missense_I546V,Silent,Silent,Missense_I755V rs13375602 1 146765617 [T/C] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.6253 1 146766089 [A/G] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm92381 1 146766126 [A/G] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_K776E,Silent,Missense_K567E,Silent,Silent,Missense_K567E,Silent,Missense_K567E,Missense_K748E,Silent,Silent,Missense_K735E,Silent,Missense_K567E,Missense_K567E,Missense_K567E,Silent,Missense_K735E,Missense_K644E,Silent,Silent,Missense_K567E,Silent,Silent,Missense_K685E,Missense_K567E,Missense_K567E,Silent,Missense_K848E,Missense_K696E,Silent,Missense_K567E,Missense_K567E,Missense_K567E,Silent,Silent,Missense_K776E exm92385 1 146767149 [T/G] NM_001351365,NM_001348451,NR_145693,NM_001348462,NR_145681,NR_145695,NM_001348458,NR_145688,NM_001348463,NM_001256336,NR_145686,NR_145694,NM_001348453,NR_145687,NM_001348464,NM_001348461,NM_001348456,NR_145689,NM_024568,NM_001256338,NR_145683,NR_145692,NM_001256337,NR_145682,NR_046070,NM_001348455,NM_001348459,NM_001348457,NR_145684,NM_004284,NM_001348454,NR_145685,NM_001348465,NM_001348460,NM_001348466,NR_145690,NR_145691,NM_001348452 NBPF19,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_A813S,Silent,Missense_A604S,Silent,Silent,Missense_A604S,Silent,Missense_A604S,Missense_A785S,Silent,Silent,Missense_A772S,Silent,Missense_A604S,Missense_A604S,Missense_A604S,Silent,Missense_A772S,Missense_A681S,Silent,Silent,Missense_A604S,Silent,Silent,Missense_A722S,Missense_A604S,Missense_A604S,Silent,Missense_A885S,Missense_A733S,Silent,Missense_A604S,Missense_A604S,Missense_A604S,Silent,Silent,Missense_A813S rs11239968 1 146767908 [A/G] NM_001351365 NBPF19 Silent rs6593757 1 146769831 [A/G] NM_001351365 NBPF19 Silent rs11239984 1 146791729 [A/G] NM_001351365 NBPF19 Silent rs2883320 1 146813984 [T/G] NM_001351365 NBPF19 Silent rs2353986 1 146821869 [T/C] NM_001351365 NBPF19 Silent rs2353975 1 146837703 [A/C] NM_001351365 NBPF19 Silent rs12727330 1 146838138 [T/C] NM_001351365 NBPF19 Silent rs7522219 1 146838619 [T/C] NM_001351365 NBPF19 Silent rs11240009 1 146842342 [A/G] NM_001351365 NBPF19 Silent rs2883318 1 146849143 [A/C] NM_001351365 NBPF19 Silent exm-rs4950322 1 146854836 [A/G] NM_001351365,NR_038423 NBPF19,LINC00624 EXON Silent,Silent rs7539416 1 146881586 [T/C] NM_001351365,NR_038423 NBPF19,LINC00624 Silent,Silent rs2353958 1 146913370 [A/G] NM_001351365,NR_038423 NBPF19,LINC00624 Silent,Silent rs4950437 1 146927395 [A/C] NM_001351365,NR_038423 NBPF19,LINC00624 Silent,Silent rs7525162 1 146930254 [A/G] NM_001351365,NR_038423 NBPF19,LINC00624 Silent,Silent rs6674761 1 146942884 [T/C] NM_001351365,NR_038423 NBPF19,LINC00624 Silent,Silent rs10900374 1 146970946 [A/G] NM_001351365,NR_038423 NBPF19,LINC00624 Silent,Silent rs596561 1 146980988 [A/G] NM_001351365,NR_038423 NBPF19,LINC00624 Silent,Silent rs17160305 1 146981725 [A/G] NM_001351365,NR_038423 NBPF19,LINC00624 Silent,Silent rs12141187 1 146982763 [T/C] NM_001351365,NR_038423 NBPF19,LINC00624 Silent,Silent rs4950328 1 147004811 [T/C] NM_001351365 NBPF19 Silent rs10900376 1 147013362 [A/G] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Silent rs1027424 1 147018361 [A/G] NM_001351365,NM_004326 NBPF19,BCL9 Silent,Silent rs594206 1 147020456 [A/G] NM_001351365,NM_004326 NBPF19,BCL9 Silent,Silent rs10494251 1 147023894 [T/C] NM_001351365,NM_004326 NBPF19,BCL9 Silent,Silent rs1015235 1 147043542 [A/G] NM_001351365,NM_004326 NBPF19,BCL9 Silent,Silent rs2353544 1 147048600 [A/G] NM_001351365,NM_004326 NBPF19,BCL9 Silent,Silent rs614502 1 147057224 [T/G] NM_001351365,NM_004326 NBPF19,BCL9 Silent,Silent exm2268935 1 147060091 [T/C] NM_001351365,NM_004326 NBPF19,BCL9 Silent,Silent rs1390507 1 147060234 [T/C] NM_001351365,NM_004326 NBPF19,BCL9 Silent,Silent rs12122799 1 147082026 [A/G] NM_001351365,NM_004326 NBPF19,BCL9 Silent,Silent rs677977 1 147083744 [T/C] NM_001351365,NM_004326 NBPF19,BCL9 Silent,Silent exm92390 1 147084683 [A/G] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_S19G indel.6254 1 147084783 [I/D] NM_001351365,NM_004326 NBPF19,BCL9 EXON exm92404 1 147084965 [T/C] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_P113S exm92411 1 147086354 [A/G] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_T167A exm92420 1 147090653 [T/C] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_P231L exm92423 1 147090683 [T/C] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_P241L exm92426 1 147090775 [T/C] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_R272C exm92428 1 147090866 [A/G] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_G302D exm92429 1 147090956 [T/C] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_P332L exm92431 1 147090979 [A/G] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_E340K exm92438 1 147091108 [A/G] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_A383T exm92447 1 147091393 [G/C] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_E478Q exm92455 1 147091507 [G/C] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_P516A exm92459 1 147091546 [C/G] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_G529R exm92460 1 147091558 [G/C] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_P533A exm92463 1 147091651 [C/G] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_G564R exm92464 1 147091671 [A/C] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_N570K exm92470 1 147091819 [T/C] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_R620C exm92479 1 147091972 [T/C] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_P671S exm92492 1 147092352 [T/G] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_L797F exm92497 1 147092372 [T/C] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_I804T exm92526 1 147094296 [T/C] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_R1043C exm92532 1 147095697 [T/C] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_P1073L exm92533 1 147095724 [T/C] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_M1082T exm92535 1 147095727 [A/C] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_T1083N exm92536 1 147095762 [T/C] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_P1095S exm92552 1 147096112 [A/G] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_M1211I exm92554 1 147096153 [A/G] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_R1225Q exm92564 1 147096378 [T/C] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_P1300L exm92586 1 147096749 [A/G] NM_001351365,NM_004326 NBPF19,BCL9 EXON Silent,Missense_M1424V rs12045115 1 147118181 [T/C] NM_001351365 NBPF19 Silent exm92590 1 147119257 [T/A] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T419S rs1344 1 147119273 [A/G] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_H413H exm2249886 1 147119273 [A/G] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_H413H exm92600 1 147120061 [T/C] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Missense_Y377C,Silent,Missense_Y377C exm2231104 1 147120125 [T/C] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Missense_A356T,Silent,Missense_A356T exm2249887 1 147120171 [A/C] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Synonymous_P340P,Silent,Synonymous_P340P exm92609 1 147120196 [A/G] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Missense_A332V,Silent,Missense_A332V exm92611 1 147121977 [T/C] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Missense_V316M,Silent,Missense_V316M rs2153463 1 147124310 [T/G] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Synonymous_R275R,Silent,Synonymous_R275R exm92623 1 147126416 [G/C] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Missense_Q225E,Silent,Missense_Q225E exm92626 1 147126437 [A/G] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Missense_R218W,Silent,Missense_R218W exm92629 1 147127320 [C/G] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Missense_L201F,Silent,Missense_L201F rs3766509 1 147130275 [A/G] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs33965274 1 147130661 [T/C] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm92634 1 147131113 [T/C] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Missense_R174H,Silent,Missense_R174H exm92639 1 147131532 [T/G] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Missense_T153N,Silent,Missense_T153N exm92641 1 147131553 [T/C] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Missense_D146G,Silent,Missense_D146G exm92645 1 147131611 [T/C] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Missense_V127M,Silent,Missense_V127M newrs79500703 1 147131757 [T/C] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm92652 1 147131811 [A/G] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Missense_P100L,Silent,Missense_P100L rs3766506 1 147137368 [T/C] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3766505 1 147138895 [A/G] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm92655 1 147142037 [T/C] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Missense_R45H,Silent,Missense_R45H exm92658 1 147142059 [T/C] NM_001351365,NR_136635,NR_136636,NR_136634,NM_001323625,NR_136633,NM_016361 NBPF19,ACP6,ACP6,ACP6,ACP6,ACP6,ACP6 EXON Silent,Silent,Silent,Silent,Missense_D38N,Silent,Missense_D38N rs7545497 1 147162445 [T/G] NM_001351365 NBPF19 Silent rs1001193 1 147166377 [A/G] NM_001351365 NBPF19 Silent rs1342710 1 147173505 [A/G] NM_001351365 NBPF19 Silent rs11577892 1 147194005 [T/G] NM_001351365 NBPF19 Silent rs6593803 1 147205770 [T/C] NM_001351365 NBPF19 Silent rs999095 1 147210227 [A/G] NM_001351365 NBPF19 Silent rs1342700 1 147211298 [A/C] NM_001351365 NBPF19 Silent rs4031118 1 147220326 [T/C] NM_001351365 NBPF19 Silent rs7513213 1 147221438 [T/C] NM_001351365 NBPF19 Silent rs17160597 1 147224252 [A/G] NM_001351365 NBPF19 Silent rs4950343 1 147224879 [T/C] NM_001351365 NBPF19 Silent rs1043806 1 147229299 [A/G] NM_001351365,NM_005266,NM_181703 NBPF19,GJA5,GJA5 EXON Silent,Silent,Silent exm92667 1 147230352 [T/C] NM_001351365,NM_005266,NM_181703 NBPF19,GJA5,GJA5 EXON Silent,Missense_R332H,Missense_R332H variant.6263 1 147230443 [A/G] NM_001351365,NM_005266,NM_181703 NBPF19,GJA5,GJA5 EXON Silent,Nonsense_R302X,Nonsense_R302X exm92671 1 147230554 [A/G] NM_001351365,NM_005266,NM_181703 NBPF19,GJA5,GJA5 EXON Silent,Missense_P265S,Missense_P265S exm92698 1 147231334 [T/C] NM_001351365,NM_005266,NM_181703 NBPF19,GJA5,GJA5 EXON Silent,Missense_S5G,Missense_S5G rs2047280 1 147236233 [T/C] NM_001351365,NM_005266 NBPF19,GJA5 Silent,Silent rs1495956 1 147238486 [A/G] NM_001351365,NM_005266 NBPF19,GJA5 Silent,Silent rs10793705 1 147240307 [T/C] NM_001351365,NM_005266 NBPF19,GJA5 Silent,Silent rs12408247 1 147244441 [T/C] NM_001351365,NM_005266 NBPF19,GJA5 Silent,Silent rs952477 1 147250196 [T/C] NM_001351365 NBPF19 Silent rs1342704 1 147254154 [A/G] NM_001351365 NBPF19 Silent rs10494257 1 147254569 [T/C] NM_001351365 NBPF19 Silent rs1342709 1 147277764 [T/C] NM_001351365 NBPF19 Silent rs1775493 1 147281307 [T/C] NM_001351365 NBPF19 Silent rs11240130 1 147283701 [A/G] NM_001351365 NBPF19 Silent rs11240132 1 147285745 [T/C] NM_001351365 NBPF19 Silent rs1086602 1 147288818 [T/C] NM_001351365 NBPF19 Silent rs8179281 1 147308112 [T/G] NM_001351365 NBPF19 Silent rs6664767 1 147309443 [T/G] NM_001351365 NBPF19 Silent rs1353428 1 147326222 [A/C] NM_001351365 NBPF19 Silent exm2263835 1 147326222 [A/C] NM_001351365 NBPF19 Silent rs10900403 1 147340734 [T/G] NM_001351365 NBPF19 Silent rs9438040 1 147357928 [T/C] NM_001351365 NBPF19 Silent rs903785 1 147364076 [A/C] NM_001351365 NBPF19 Silent rs28386775 1 147371120 [T/C] NM_001351365 NBPF19 Silent rs9437981 1 147373447 [A/G] NM_001351365 NBPF19 Silent rs7541950 1 147375981 [T/C] NM_001351365,NM_005267 NBPF19,GJA8 Silent,Silent exm92700 1 147380101 [A/C] NM_001351365,NM_005267 NBPF19,GJA8 EXON Silent,Missense_L7M exm92701 1 147380121 [C/G] NM_001351365,NM_005267 NBPF19,GJA8 EXON Silent,Missense_E13D exm92718 1 147380467 [A/G] NM_001351365,NM_005267 NBPF19,GJA8 EXON Silent,Missense_V129I exm92727 1 147380740 [A/G] NM_001351365,NM_005267 NBPF19,GJA8 EXON Silent,Missense_N220D exm92732 1 147380823 [T/G] NM_001351365,NM_005267 NBPF19,GJA8 EXON Silent,Missense_I247M exm92737 1 147380975 [A/G] NM_001351365,NM_005267 NBPF19,GJA8 EXON Silent,Missense_N298S exm92741 1 147381076 [A/G] NM_001351365,NM_005267 NBPF19,GJA8 EXON Silent,Missense_E332K exm92750 1 147381239 [T/C] NM_001351365,NM_005267 NBPF19,GJA8 EXON Silent,Missense_P386L var_1_147381355 1 147381355 [T/C] NM_001351365,NM_005267 NBPF19,GJA8 EXON Silent,Nonsense_R425X rs1532399 1 147381444 [A/C] NM_001351365 NBPF19 Silent exm92774 1 147415611 [T/C] NM_001351365,NM_016334,NM_001350182,NM_001350181,NM_001350183,NM_001350184,NM_001350180 NBPF19,GPR89B,GPR89B,GPR89B,GPR89B,GPR89B,GPR89B EXON Silent,Missense_M89T,Missense_M64T,Missense_M64T,Silent,Silent,Missense_M89T exm92780 1 147416122 [T/C] NM_001351365,NM_016334,NM_001350182,NM_001350181,NM_001350183,NM_001350184,NM_001350180 NBPF19,GPR89B,GPR89B,GPR89B,GPR89B,GPR89B,GPR89B EXON Silent,Nonsense_R109X,Nonsense_R84X,Nonsense_R84X,Silent,Silent,Nonsense_R109X indel.6265 1 147416129 [I/D] NM_001351365,NM_016334,NM_001350182,NM_001350181,NM_001350183,NM_001350184,NM_001350180 NBPF19,GPR89B,GPR89B,GPR89B,GPR89B,GPR89B,GPR89B EXON kgp6303375 1 147706692 [T/G] NM_001351365,NR_120331 NBPF19,LOC101927468 Silent,Silent kgp6703373 1 147719551 [A/G] NM_001351365 NBPF19 Silent rs1875836 1 147729232 [T/C] NM_001351365 NBPF19 Silent rs7546514 1 147779841 [A/G] NM_001351365 NBPF19 Silent rs4950524 1 147782284 [T/G] NM_001351365 NBPF19 Silent rs578985 1 147785091 [T/C] NM_001351365 NBPF19 Silent rs1763457 1 147795678 [T/C] NM_001351365 NBPF19 Silent rs10907371 1 147803005 [T/G] NM_001351365 NBPF19 Silent rs2992458 1 147806652 [A/G] NM_001351365,NR_049810 NBPF19,MIR5087 EXON Silent,Silent rs481176 1 147807277 [A/G] NM_001351365 NBPF19 Silent rs1805204 1 147814694 [T/C] NM_001351365 NBPF19 Silent rs3009468 1 147825454 [A/G] NM_001351365 NBPF19 Silent rs515565 1 147825548 [T/C] NM_001351365 NBPF19 Silent rs2999617 1 147825662 [T/C] NM_001351365 NBPF19 Silent indel.6266 1 148004602 [D/I] NM_001351365,NR_148945,NM_001351372 NBPF19,LOC100996740,NBPF26 EXON var_1_148011748 1 148011749 [D/I] NM_001351365,NR_148945,NM_001351372 NBPF19,LOC100996740,NBPF26 EXON var_1_148015628 1 148015629 [D/I] NM_001351365,NR_148945,NM_001351372 NBPF19,LOC100996740,NBPF26 indel.6271 1 148015713 [I/D] NM_001351365,NR_148945,NM_001351372 NBPF19,LOC100996740,NBPF26 indel.6272 1 148341913 [D/I] NM_001351365,NM_001351372,NM_001277444,NM_015383,NR_104217 NBPF19,NBPF26,NBPF9,NBPF14,NBPF25P EXON indel.6273 1 148344731 [I/D] NM_001351365,NM_001351372,NM_001277444,NM_015383,NR_104217 NBPF19,NBPF26,NBPF9,NBPF14,NBPF25P EXON indel.6274 1 148346697 [D/I] NM_001351365,NM_001351372,NM_001277444,NM_015383,NR_104217 NBPF19,NBPF26,NBPF9,NBPF14,NBPF25P EXON kgp2350919 1 148529087 [A/G] NR_104217 NBPF25P Silent kgp1115875 1 148544983 [A/G] NR_104217 NBPF25P Silent exm2268756 1 148551025 [T/C] NR_104217 NBPF25P Silent var_1_148594506 1 148594507 [I/D] NR_104217,NM_001170755,NM_173638 NBPF25P,NBPF15,NBPF15 EXON indel.6278 1 148744589 [D/I] NR_104217 NBPF25P rs7545679 1 149039930 [A/G] NR_104217 NBPF25P Silent rs17161949 1 149045105 [T/C] NR_104217 NBPF25P Silent kgp5198276 1 149234900 [A/G] kgp7723817 1 149665167 [A/G] NR_111958,NR_111955,NR_111957,NR_156689,NR_111956,NR_156690,NR_156691,NR_111954,NR_135813 LINC01145,LINC01145,LINC01145,LINC01145,LINC01145,LINC01145,LINC01145,LINC01145,LOC101929798 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp6102321 1 149680227 [A/G] NR_135813 LOC101929798 Silent indel.6281 1 149762930 [I/D] NM_001161334,NM_000566 HIST2H2BF,FCGR1A EXON indel.6282 1 149762977 [D/I] NM_001161334,NM_000566 HIST2H2BF,FCGR1A EXON rs3738319 1 149815323 [A/G] rs7531664 1 149815536 [T/C] exm93599 1 149858180 [T/G] NM_003528 HIST2H2BE EXON Missense_P4Q exm93657 1 149871811 [T/C] NM_016074,NM_001321026,NM_001321025 BOLA1,BOLA1,BOLA1 EXON Missense_H67Y,Missense_H67Y,Missense_H67Y exm93661 1 149871855 [A/C] NM_016074,NM_001321026,NM_001321025 BOLA1,BOLA1,BOLA1 EXON Missense_S81R,Missense_S81R,Missense_S81R exm93667 1 149871920 [T/C] NM_016074,NM_001321026,NM_001321025 BOLA1,BOLA1,BOLA1 EXON Missense_A103V,Missense_A103V,Missense_A103V exm2249912 1 149876644 [A/G] NM_001328675,NM_001328674,NM_001278719,NM_014849 SV2A,SV2A,SV2A,SV2A EXON Synonymous_L717L,Synonymous_L717L,Synonymous_L169L,Synonymous_L717L exm2249913 1 149876686 [A/G] NM_001328675,NM_001328674,NM_001278719,NM_014849 SV2A,SV2A,SV2A,SV2A EXON Synonymous_I703I,Synonymous_I703I,Synonymous_I155I,Synonymous_I703I exm93679 1 149876686 [A/G] NM_001328675,NM_001328674,NM_001278719,NM_014849 SV2A,SV2A,SV2A,SV2A EXON Synonymous_I703I,Synonymous_I703I,Synonymous_I155I,Synonymous_I703I exm93706 1 149879666 [T/C] NM_001328675,NM_001328674,NM_014849 SV2A,SV2A,SV2A EXON Missense_R491H,Missense_R491H,Missense_R491H exm93707 1 149879673 [T/C] NM_001328675,NM_001328674,NM_014849 SV2A,SV2A,SV2A EXON Missense_G489R,Missense_G489R,Missense_G489R exm93753 1 149885070 [T/C] NM_001328675,NM_001328674,NM_014849 SV2A,SV2A,SV2A EXON Missense_G108D,Missense_G108D,Missense_G108D exm93754 1 149885086 [A/G] NM_001328675,NM_001328674,NM_014849 SV2A,SV2A,SV2A EXON Missense_R103W,Missense_R103W,Missense_R103W exm93763 1 149885355 [T/C] NM_001328675,NM_001328674,NM_014849 SV2A,SV2A,SV2A EXON Missense_R13H,Missense_R13H,Missense_R13H exm93766 1 149885376 [T/C] NM_001328675,NM_001328674,NM_014849 SV2A,SV2A,SV2A EXON Missense_R6Q,Missense_R6Q,Missense_R6Q exm-rs11205277 1 149892872 [A/G] exm2249914 1 149897906 [A/G] NM_005850 SF3B4 EXON Synonymous_P245P exm93816 1 149901088 [T/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_H616R,Missense_H688R exm93821 1 149901209 [T/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_M576V,Missense_M648V exm2276850 1 149901676 [A/G] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Nonsense_R522X,Nonsense_R594X exm93835 1 149901766 [A/G] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_F492L,Missense_F564L exm93838 1 149901809 [A/C] NM_181873,NM_001145862 MTMR11,MTMR11 Silent,Silent exm1713051 1 149902286 [A/G] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_C468R,Missense_C540R exm93839 1 149902312 [T/G] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_Q459P,Missense_Q531P exm93840 1 149902342 [T/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_R449H,Missense_R521H variant.6301 1 149902791 [A/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Nonsense_E381X,Nonsense_E453X exm93858 1 149902853 [A/G] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_P360L,Missense_P432L indel.6302 1 149903835 [D/I] NM_181873,NM_001145862 MTMR11,MTMR11 newrs150224850 1 149904175 [A/G] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Nonsense_R273X,Nonsense_R345X exm93875 1 149905773 [T/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_G177D,Missense_G249D exm93877 1 149905827 [A/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_R159L,Missense_R231L exm93879 1 149906097 [T/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_D152N,Missense_D224N exm93887 1 149906413 [T/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_M87V,Missense_M159V exm93889 1 149906902 [T/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_G77S,Missense_G149S exm93894 1 149906991 [T/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_R47H,Missense_R119H exm93897 1 149906999 [G/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_Q44H,Missense_Q116H variant.6307 1 149907023 [T/C] NM_181873,NM_001145862 MTMR11,MTMR11 Silent,Silent exm93903 1 149907209 [A/G] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_I31T,Missense_I103T variant.6310 1 149915874 [A/G] NM_020205 OTUD7B EXON Missense_P805L exm93925 1 149915911 [A/G] NM_020205 OTUD7B EXON Missense_R793W exm93941 1 149916204 [T/C] NM_020205 OTUD7B EXON Missense_D695G exm93943 1 149916226 [A/G] NM_020205 OTUD7B EXON Missense_F688L exm93946 1 149916276 [T/G] NM_020205 OTUD7B EXON Missense_A671D exm93963 1 149916934 [T/C] NM_020205 OTUD7B EXON Missense_A452T exm93968 1 149919225 [A/G] NM_020205 OTUD7B EXON Missense_S417F exm93972 1 149920922 [A/C] NM_020205 OTUD7B EXON Missense_G396V exm93977 1 149922042 [T/C] NM_020205 OTUD7B EXON Missense_I310V exm93991 1 149937800 [T/C] NM_020205 OTUD7B EXON Missense_R169H exm94004 1 149943111 [T/G] NM_020205 OTUD7B EXON Missense_L52I rs11205308 1 149955163 [A/G] NM_020205 OTUD7B Silent rs3738320 1 149982626 [A/G] NM_020205 OTUD7B EXON Silent rs12060830 1 149995979 [A/C] exm2268758 1 149998494 [T/C] rs2027349 1 150039678 [A/G] NM_001279353 VPS45 Silent indel.6315 1 150039958 [I/D] NM_001279353,NM_001279354,NR_103998,NM_007259 VPS45,VPS45,VPS45,VPS45 EXON exm94022 1 150044250 [T/G] NM_001279353,NM_001279354,NR_103998,NM_007259 VPS45,VPS45,VPS45,VPS45 EXON Missense_I46M,Missense_I46M,Silent,Missense_I82M exm94035 1 150049220 [A/G] NM_001279353,NM_001279354,NR_103998,NM_007259 VPS45,VPS45,VPS45,VPS45 EXON Silent,Missense_T127A,Silent,Missense_T163A exm94042 1 150049784 [A/G] NM_001279353,NM_001279354,NR_103998,NM_007259 VPS45,VPS45,VPS45,VPS45 EXON Missense_R100H,Missense_R169H,Silent,Missense_R205H exm94044 1 150049795 [T/G] NM_001279353,NM_001279354,NR_103998,NM_007259 VPS45,VPS45,VPS45,VPS45 EXON Missense_V104F,Missense_V173F,Silent,Missense_V209F exm94047 1 150053494 [T/C] NM_001279353,NM_001279354,NR_103998,NM_007259 VPS45,VPS45,VPS45,VPS45 EXON Missense_P148L,Missense_P217L,Silent,Missense_P253L exm2249916 1 150054802 [A/G] NM_001279353,NM_001279354,NR_103998,NM_007259 VPS45,VPS45,VPS45,VPS45 EXON Synonymous_A208A,Synonymous_A277A,Silent,Synonymous_A313A exm94054 1 150054897 [A/G] NM_001279353,NM_001279354,NR_103998,NM_007259 VPS45,VPS45,VPS45,VPS45 EXON Missense_R240Q,Missense_R309Q,Silent,Missense_R345Q exm94060 1 150064399 [G/C] NM_001279353,NM_001279354,NR_103998,NM_007259 VPS45,VPS45,VPS45,VPS45 EXON Missense_V318L,Missense_V387L,Silent,Missense_V423L variant.6318 1 150064508 [A/G] NM_001279353,NM_001279354,NR_103998,NM_007259 VPS45,VPS45,VPS45,VPS45 Silent,Silent,Silent,Silent exm94073 1 150082673 [A/G] NM_001279353,NM_001279354,NR_103998,NM_007259 VPS45,VPS45,VPS45,VPS45 EXON Missense_Y414C,Missense_Y483C,Silent,Missense_Y519C rs7527755 1 150090535 [T/G] NM_001279353,NM_001279354,NR_103998,NM_007259 VPS45,VPS45,VPS45,VPS45 Silent,Silent,Silent,Silent exm94077 1 150116925 [A/G] NM_001279353,NM_001279354,NR_103998,NM_007259 VPS45,VPS45,VPS45,VPS45 EXON Synonymous_P481P,Missense_R519Q,Silent,Missense_R555Q exm94086 1 150123132 [C/G] NM_001304722,NM_001304724,NM_016274,NM_001304723 PLEKHO1,PLEKHO1,PLEKHO1,PLEKHO1 EXON Silent,Silent,Missense_P21A,Silent exm94106 1 150129585 [A/G] NM_001304722,NM_001304724,NM_016274,NM_001304723 PLEKHO1,PLEKHO1,PLEKHO1,PLEKHO1 EXON Silent,Silent,Missense_V144I,Silent exm94114 1 150131166 [G/C] NM_001304722,NM_001304724,NM_016274,NM_001304723 PLEKHO1,PLEKHO1,PLEKHO1,PLEKHO1 EXON Missense_D54E,Missense_D43E,Missense_D226E,Missense_D54E exm94124 1 150131324 [A/G] NM_001304722,NM_001304724,NM_016274,NM_001304723 PLEKHO1,PLEKHO1,PLEKHO1,PLEKHO1 EXON Missense_R107Q,Missense_R96Q,Missense_R279Q,Missense_R107Q exm94126 1 150131341 [T/C] NM_001304722,NM_001304724,NM_016274,NM_001304723 PLEKHO1,PLEKHO1,PLEKHO1,PLEKHO1 EXON Missense_R113C,Missense_R102C,Missense_R285C,Missense_R113C exm94127 1 150131342 [A/G] NM_001304722,NM_001304724,NM_016274,NM_001304723 PLEKHO1,PLEKHO1,PLEKHO1,PLEKHO1 EXON Missense_R113H,Missense_R102H,Missense_R285H,Missense_R113H exm94136 1 150131408 [A/G] NM_001304722,NM_001304724,NM_016274,NM_001304723 PLEKHO1,PLEKHO1,PLEKHO1,PLEKHO1 EXON Missense_R135Q,Missense_R124Q,Missense_R307Q,Missense_R135Q exm94141 1 150131489 [A/G] NM_001304722,NM_001304724,NM_016274,NM_001304723 PLEKHO1,PLEKHO1,PLEKHO1,PLEKHO1 EXON Missense_R162Q,Missense_R151Q,Missense_R334Q,Missense_R162Q exm1713213 1 150131579 [T/C] NM_001304722,NM_001304724,NM_016274,NM_001304723 PLEKHO1,PLEKHO1,PLEKHO1,PLEKHO1 EXON Missense_S192L,Missense_S181L,Missense_S364L,Missense_S192L exm94151 1 150131630 [A/G] NM_001304722,NM_001304724,NM_016274,NM_001304723 PLEKHO1,PLEKHO1,PLEKHO1,PLEKHO1 EXON Missense_D209G,Missense_D198G,Missense_D381G,Missense_D209G exm94153 1 150131671 [T/C] NM_001304722,NM_001304724,NM_016274,NM_001304723 PLEKHO1,PLEKHO1,PLEKHO1,PLEKHO1 EXON Missense_L223F,Missense_L212F,Missense_L395F,Missense_L223F exm94155 1 150131687 [T/C] NM_001304722,NM_001304724,NM_016274,NM_001304723 PLEKHO1,PLEKHO1,PLEKHO1,PLEKHO1 EXON Missense_P228L,Missense_P217L,Missense_P400L,Missense_P228L exm2259802 1 150163390 [T/C] rs13375906 1 150175887 [A/G] rs6679147 1 150192450 [T/C] NM_001280560,NM_001136479,NM_030920,NM_001136478,NM_001280559 ANP32E,ANP32E,ANP32E,ANP32E,ANP32E EXON Silent,Silent,Silent,Silent,Silent exm94165 1 150195561 [T/A] NM_001280560,NM_001136479,NM_030920,NM_001136478,NM_001280559 ANP32E,ANP32E,ANP32E,ANP32E,ANP32E EXON Silent,Missense_E181D,Missense_E229D,Missense_E188D,Missense_E229D exm94174 1 150199062 [T/C] NM_001280560,NM_001136479,NM_030920,NM_001136478,NM_001280559 ANP32E,ANP32E,ANP32E,ANP32E,ANP32E EXON Synonymous_K131K,Missense_E139K,Missense_E187K,Missense_E146K,Missense_E187K rs7522034 1 150199123 [T/G] NM_001280560,NM_001136479,NM_030920,NM_001136478,NM_001280559 ANP32E,ANP32E,ANP32E,ANP32E,ANP32E EXON Missense_A111E,Synonymous_G118G,Synonymous_G166G,Synonymous_G125G,Synonymous_G166G exm94182 1 150201406 [T/C] NM_001280560,NM_001136479,NM_030920,NM_001136478,NM_001280559 ANP32E,ANP32E,ANP32E,ANP32E,ANP32E EXON Silent,Synonymous_E116E,Synonymous_E164E,Synonymous_E123E,Synonymous_E164E 1KG_1_150201529 1 150201529 [I/D] NM_001280560,NM_001136479,NM_030920,NM_001136478,NM_001280559 ANP32E,ANP32E,ANP32E,ANP32E,ANP32E EXON rs11205353 1 150224505 [A/G] exm94191 1 150230559 [T/G] NM_012113 CA14 EXON Missense_W12C exm94193 1 150230578 [T/G] NM_012113 CA14 EXON Missense_G19C exm94197 1 150232552 [A/C] NM_012113 CA14 EXON Missense_H21P variant.6327 1 150232567 [A/G] NM_012113 CA14 Silent indel.6328 1 150233894 [I/D] NM_012113 CA14 EXON exm94203 1 150234028 [A/G] NM_012113 CA14 EXON Missense_G83S exm94208 1 150234692 [T/C] NM_012113 CA14 EXON Missense_F131S var_1_150235274 1 150235274 [A/G] NM_012113 CA14 Silent exm94216 1 150235510 [A/G] NM_012113 CA14 EXON Missense_R211H indel.6332 1 150235563 [I/D] NM_012113 CA14 EXON indel.6333 1 150235598 [I/D] NM_012113 CA14 EXON exm94228 1 150235791 [T/C] NM_012113 CA14 EXON Missense_R272C variant.6334 1 150236079 [A/G] NM_012113 CA14 Silent indel.6335 1 150236251 [I/D] NM_012113 CA14 EXON exm94235 1 150236252 [A/G] NM_012113 CA14 EXON Missense_V308I exm1713266 1 150236264 [A/G] NM_012113 CA14 EXON Missense_A312T newrs150286906 1 150236277 [A/G] NM_012113 CA14 EXON Missense_R316Q exm94251 1 150238593 [G/C] NM_001077628,NM_001243771,NR_045033,NR_045034,NR_045035,NM_016022,NM_001243772 APH1A,APH1A,APH1A,APH1A,APH1A,APH1A,APH1A EXON Missense_C245W,Silent,Silent,Silent,Silent,Silent,Missense_C175W var_1_150238957 1 150238957 [A/G] NM_001077628,NM_001243771,NR_045033,NR_045034,NR_045035,NM_016022,NM_001243772 APH1A,APH1A,APH1A,APH1A,APH1A,APH1A,APH1A EXON Nonsense_R237X,Nonsense_R180X,Silent,Silent,Silent,Nonsense_R237X,Nonsense_R167X exm94258 1 150238960 [T/G] NM_001077628,NM_001243771,NR_045033,NR_045034,NR_045035,NM_016022,NM_001243772 APH1A,APH1A,APH1A,APH1A,APH1A,APH1A,APH1A EXON Missense_L236I,Missense_L179I,Silent,Silent,Silent,Missense_L236I,Missense_L166I exm94275 1 150246573 [A/G] NM_001301039,NM_001301040,NM_024579,NM_001301042,NM_001301041 C1orf54,C1orf54,C1orf54,C1orf54,C1orf54 EXON Missense_D44N,Missense_D44N,Missense_D44N,Missense_D44N,Silent newrs144157837 1 150248148 [A/G] NM_001301039,NM_001301040,NM_024579,NM_001301042,NM_001301041 C1orf54,C1orf54,C1orf54,C1orf54,C1orf54 Silent,Silent,Silent,Silent,Silent exm94280 1 150248200 [A/G] NM_001301039,NM_001301040,NM_024579,NM_001301042,NM_001301041 C1orf54,C1orf54,C1orf54,C1orf54,C1orf54 EXON Missense_D61N,Missense_D61N,Missense_D61N,Missense_D61N,Missense_D33N rs2274127 1 150252984 [T/G] NM_001301039,NM_001301040,NM_024579,NM_001301042,NM_001301041 C1orf54,C1orf54,C1orf54,C1orf54,C1orf54 Silent,Silent,Silent,Silent,Silent exm94293 1 150255712 [A/C] NM_144697,NM_001300839,NM_001300840,NM_001300838,NM_001300841 CIART,CIART,CIART,CIART,CIART EXON Missense_S12Y,Silent,Silent,Missense_S12Y,Silent 1KG_1_150255715 1 150255715 [D/I] NM_144697,NM_001300839,NM_001300840,NM_001300838,NM_001300841 CIART,CIART,CIART,CIART,CIART EXON exm94294 1 150255718 [T/C] NM_144697,NM_001300839,NM_001300840,NM_001300838,NM_001300841 CIART,CIART,CIART,CIART,CIART EXON Missense_S14F,Silent,Silent,Missense_S14F,Silent exm94302 1 150255925 [A/G] NM_144697,NM_001300839,NM_001300840,NM_001300838,NM_001300841 CIART,CIART,CIART,CIART,CIART EXON Missense_R83Q,Silent,Silent,Missense_R83Q,Silent exm94305 1 150255967 [T/C] NM_144697,NM_001300839,NM_001300840,NM_001300838,NM_001300841 CIART,CIART,CIART,CIART,CIART EXON Missense_S97L,Missense_S9L,Missense_S9L,Missense_S97L,Missense_S9L var_1_150256915 1 150256915 [T/G] NM_144697,NM_001300839,NM_001300840,NM_001300838,NM_001300841 CIART,CIART,CIART,CIART,CIART Silent,Silent,Silent,Silent,Silent exm94312 1 150257054 [T/C] NM_144697,NM_001300839,NM_001300840,NM_001300838,NM_001300841 CIART,CIART,CIART,CIART,CIART EXON Missense_T190I,Missense_T102I,Missense_T102I,Missense_T190I,Missense_T102I exm1713297 1 150259016 [A/C] NM_144697,NM_001300839,NM_001300840,NM_001300838,NM_001300841 CIART,CIART,CIART,CIART,CIART EXON Missense_P270T,Missense_P182T,Missense_P182T,Missense_P270T,Missense_P182T exm94323 1 150259082 [A/G] NM_144697,NM_001300839,NM_001300840,NM_001300838,NM_001300841 CIART,CIART,CIART,CIART,CIART EXON Missense_V292I,Missense_V204I,Missense_V204I,Missense_V292I,Missense_V204I exm94324 1 150259113 [A/C] NM_144697,NM_001300839,NM_001300840,NM_001300838,NM_001300841 CIART,CIART,CIART,CIART,CIART EXON Missense_P302H,Missense_P214H,Missense_P214H,Missense_P302H,Missense_P214H exm94326 1 150259350 [A/C] NM_144697,NM_001300839,NM_001300840,NM_001300838,NM_001300841 CIART,CIART,CIART,CIART,CIART EXON Missense_H381P,Missense_H293P,Missense_H293P,Missense_H381P,Missense_H293P rs1776273 1 150270209 [A/G] NM_031901,NM_018997 MRPS21,MRPS21 Silent,Silent exm94338 1 150280621 [T/G] NM_031901,NM_018997 MRPS21,MRPS21 EXON Missense_L75V,Missense_L75V rs1694379 1 150292417 [A/C] rs1260407 1 150306125 [T/C] NM_004698,NR_146766,NR_146768,NR_146769,NM_001350529,NR_146767 PRPF3,PRPF3,PRPF3,PRPF3,PRPF3,PRPF3 Silent,Silent,Silent,Silent,Silent,Silent exm94375 1 150312875 [A/G] NM_004698,NR_146766,NR_146768,NR_146769,NM_001350529,NR_146767 PRPF3,PRPF3,PRPF3,PRPF3,PRPF3,PRPF3 EXON Missense_T402A,Silent,Silent,Silent,Missense_T267A,Silent rs11587682 1 150324284 [T/C] NM_004698,NR_146766,NR_146768,NR_146769,NM_001350529,NR_146767 PRPF3,PRPF3,PRPF3,PRPF3,PRPF3,PRPF3 Silent,Silent,Silent,Silent,Silent,Silent rs2794679 1 150324857 [A/G] NM_004698,NR_146766,NR_146768,NR_146769,NM_001350529,NR_146767 PRPF3,PRPF3,PRPF3,PRPF3,PRPF3,PRPF3 Silent,Silent,Silent,Silent,Silent,Silent rs12046899 1 150336468 [T/G] rs12027008 1 150349768 [T/C] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 Silent,Silent,Silent rs11582094 1 150371394 [T/G] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 Silent,Silent,Silent rs698915 1 150388318 [A/G] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 Silent,Silent,Silent exm94418 1 150416763 [T/C] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 EXON Missense_R202C,Missense_R176C,Missense_R176C exm94420 1 150418800 [T/C] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 EXON Missense_P265S,Missense_P239S,Missense_P239S exm94425 1 150429944 [A/G] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 EXON Missense_M351V,Missense_M325V,Missense_M325V exm94431 1 150432658 [A/G] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 EXON Missense_T426A,Missense_T400A,Missense_T400A exm94441 1 150437095 [A/G] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 EXON Missense_T502A,Missense_T476A,Missense_T476A exm2231138 1 150443354 [A/G] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 EXON Missense_T644A,Missense_T618A,Missense_T618A exm94448 1 150443553 [A/G] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 EXON Missense_R710H,Missense_R684H,Missense_R684H exm94451 1 150443600 [T/C] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 EXON Missense_R726W,Missense_R700W,Missense_R700W exm94453 1 150443738 [T/C] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 EXON Missense_P772S,Missense_P746S,Missense_P746S exm94456 1 150443780 [A/G] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 EXON Missense_V786I,Missense_V760I,Missense_V760I exm94458 1 150444026 [A/G] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 EXON Missense_E868K,Missense_E842K,Missense_E842K exm94474 1 150444432 [T/C] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 EXON Missense_T1003I,Synonymous_H930H,Missense_T977I exm94485 1 150444955 [A/T] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 EXON Missense_S1177R,Silent,Missense_S1151R exm94486 1 150444959 [A/G] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 EXON Missense_G1179S,Silent,Missense_G1153S exm94489 1 150445058 [T/C] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 EXON Missense_P1212S,Silent,Missense_P1186S exm94498 1 150445316 [A/C] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 EXON Missense_P1298T,Silent,Missense_P1272T exm94503 1 150445514 [T/C] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 EXON Missense_R1364C,Silent,Missense_R1338C rs13057 1 150448688 [T/G] NM_015203,NM_001297673,NM_001297674 RPRD2,RPRD2,RPRD2 EXON Silent,Silent,Silent rs34001546 1 150459715 [T/C] exm94520 1 150459992 [A/G] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Silent,Synonymous_T22T,Silent,Synonymous_T22T,Synonymous_T22T newrs151209776 1 150460531 [T/G] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 Silent,Silent,Silent,Silent,Silent exm94535 1 150463919 [A/C] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Silent,Missense_L188I,Silent,Missense_L188I,Missense_L188I exm94536 1 150463923 [A/C] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Silent,Missense_T189K,Silent,Missense_T189K,Missense_T189K exm1713377 1 150464913 [A/G] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Silent,Silent,Silent,Missense_Q241R,Missense_Q241R exm94543 1 150464964 [T/C] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Silent,Silent,Silent,Missense_S258L,Missense_S258L rs12116970 1 150466925 [T/C] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 Silent,Silent,Silent,Silent,Silent exm94551 1 150470019 [A/G] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Silent,Missense_H215R,Silent,Missense_H345R,Missense_H263R exm94552 1 150470061 [T/C] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Silent,Missense_T229M,Silent,Missense_T359M,Missense_T277M exm94557 1 150470145 [T/C] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Silent,Missense_P257L,Silent,Missense_P387L,Missense_P305L exm94564 1 150471037 [T/G] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Silent,Missense_F303C,Silent,Missense_F433C,Missense_F351C exm94569 1 150471093 [T/C] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Silent,Missense_R322W,Silent,Missense_R452W,Missense_R370W variant.6350 1 150471142 [T/G] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 Silent,Silent,Silent,Silent,Silent exm94574 1 150471410 [A/G] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Silent,Missense_R350H,Silent,Missense_R480H,Missense_R398H exm94576 1 150471424 [A/G] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Silent,Missense_V355I,Silent,Missense_V485I,Missense_V403I exm94577 1 150471443 [A/G] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Silent,Missense_R361H,Silent,Missense_R491H,Missense_R409H variant.6351 1 150476850 [T/C] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Silent,Nonsense_Q423X,Silent,Nonsense_Q553X,Nonsense_Q471X exm94587 1 150478134 [A/G] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Silent,Missense_S524N,Silent,Missense_S654N,Missense_S572N exm2268759 1 150478623 [T/C] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 Silent,Silent,Silent,Silent,Silent rs3754214 1 150478623 [T/C] NR_073514,NM_001271896,NR_073513,NM_025150,NM_001271895 TARS2,TARS2,TARS2,TARS2,TARS2 Silent,Silent,Silent,Silent,Silent exm94605 1 150482145 [A/G] NM_004425,NM_001202858,NM_022664 ECM1,ECM1,ECM1 EXON Missense_A44T,Missense_A44T,Missense_A44T exm94625 1 150483355 [T/C] NM_004425,NM_001202858,NM_022664 ECM1,ECM1,ECM1 EXON Missense_T130M,Missense_T157M,Missense_T130M exm94627 1 150483471 [G/C] NM_004425,NM_001202858,NM_022664 ECM1,ECM1,ECM1 EXON Missense_P169A,Missense_P196A,Missense_P169A exm94632 1 150483580 [A/G] NM_004425,NM_001202858,NM_022664 ECM1,ECM1,ECM1 EXON Missense_R205H,Missense_R232H,Missense_R205H exm94645 1 150484020 [T/C] NM_004425,NM_001202858,NM_022664 ECM1,ECM1,ECM1 EXON Missense_R266W,Missense_R293W,Silent exm94647 1 150484069 [A/G] NM_004425,NM_001202858,NM_022664 ECM1,ECM1,ECM1 EXON Missense_R282Q,Missense_R309Q,Silent exm94651 1 150484180 [A/G] NM_004425,NM_001202858,NM_022664 ECM1,ECM1,ECM1 EXON Missense_R319H,Missense_R346H,Silent exm94652 1 150484191 [T/C] NM_004425,NM_001202858,NM_022664 ECM1,ECM1,ECM1 EXON Missense_R323C,Missense_R350C,Silent exm94655 1 150484257 [T/A] NM_004425,NM_001202858,NM_022664 ECM1,ECM1,ECM1 EXON Missense_F345I,Missense_F372I,Silent exm94656 1 150484273 [A/G] NM_004425,NM_001202858,NM_022664 ECM1,ECM1,ECM1 EXON Missense_R350H,Missense_R377H,Silent exm94665 1 150484897 [T/C] NM_004425,NM_001202858,NM_022664 ECM1,ECM1,ECM1 EXON Missense_R385C,Missense_R412C,Missense_R260C exm94669 1 150484937 [A/G] NM_004425,NM_001202858,NM_022664 ECM1,ECM1,ECM1 EXON Missense_R398H,Missense_R425H,Missense_R273H exm94673 1 150484987 [A/G] NM_004425,NM_001202858,NM_022664 ECM1,ECM1,ECM1 EXON Missense_G415S,Missense_G442S,Missense_G290S exm94674 1 150484991 [A/G] NM_004425,NM_001202858,NM_022664 ECM1,ECM1,ECM1 EXON Missense_R416Q,Missense_R443Q,Missense_R291Q exm94685 1 150485746 [T/C] NM_004425,NM_001202858,NM_022664 ECM1,ECM1,ECM1 EXON Nonsense_R476X,Nonsense_R503X,Nonsense_R351X exm94687 1 150485749 [T/C] NM_004425,NM_001202858,NM_022664 ECM1,ECM1,ECM1 EXON Missense_R477C,Missense_R504C,Missense_R352C variant.6365 1 150485761 [T/C] NM_004425,NM_001202858,NM_022664 ECM1,ECM1,ECM1 EXON Nonsense_R481X,Nonsense_R508X,Nonsense_R356X exm94692 1 150485869 [A/G] NM_004425,NM_001202858,NM_022664 ECM1,ECM1,ECM1 EXON Missense_A517T,Missense_A544T,Missense_A392T rs4971010 1 150515021 [A/G] exm94711 1 150525425 [A/G] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_E44K,Missense_E44K,Missense_E44K,Missense_E44K exm94728 1 150525907 [A/G] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_R147Q,Missense_R147Q,Missense_R147Q,Missense_R147Q exm94729 1 150525935 [A/G] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_M156I,Missense_M156I,Missense_M156I,Missense_M156I exm94738 1 150526051 [T/C] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_P195L,Missense_P195L,Missense_P195L,Missense_P195L exm94740 1 150526089 [A/G] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_G208S,Missense_G208S,Missense_G208S,Missense_G208S exm94742 1 150526134 [A/T] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_T223S,Missense_T223S,Missense_T223S,Missense_T223S exm94745 1 150526146 [A/C] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_Q227K,Missense_Q227K,Missense_Q227K,Missense_Q227K exm94748 1 150526216 [A/G] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_R250Q,Missense_R250Q,Missense_R250Q,Missense_R250Q exm94752 1 150526270 [T/C] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_S268F,Missense_S268F,Missense_S268F,Missense_S268F exm94756 1 150526387 [A/G] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_R307Q,Missense_R307Q,Missense_R307Q,Missense_R307Q exm94758 1 150526393 [A/G] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_R309Q,Missense_R309Q,Missense_R309Q,Missense_R309Q exm94768 1 150526527 [T/C] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_L354F,Missense_L354F,Missense_L354F,Missense_L354F exm94772 1 150526851 [G/C] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_P381R,Missense_P381R,Missense_P381R,Missense_P381R rs9659073 1 150527354 [A/G] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 Silent,Silent,Silent,Silent exm94780 1 150527953 [A/G] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_R451H,Missense_R451H,Missense_R428H,Missense_R428H exm94789 1 150528675 [A/G] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_R493H,Missense_R493H,Missense_R470H,Missense_R470H newrs118203985 1 150529450 [T/G] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Nonsense_Y618X,Nonsense_Y618X,Nonsense_Y595X,Nonsense_Y595X exm94806 1 150529656 [T/C] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Silent,Missense_P654L,Missense_P631L,Missense_P631L exm94813 1 150529738 [G/C] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_Q619H,Missense_R681S,Missense_R658S,Missense_R658S exm94820 1 150530009 [T/C] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_S657L,Missense_S719L,Missense_S696L,Missense_S696L exm94822 1 150530042 [T/C] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_A668V,Missense_A730V,Missense_A707V,Missense_A707V exm94839 1 150530536 [T/C] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_R726C,Missense_R788C,Missense_R765C,Missense_R765C exm94840 1 150530537 [A/G] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_R726H,Missense_R788H,Missense_R765H,Missense_R765H exm94842 1 150530554 [T/C] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_R732W,Missense_R794W,Missense_R771W,Missense_R771W exm94843 1 150530584 [T/C] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_R742C,Missense_R804C,Missense_R781C,Missense_R781C exm94854 1 150530967 [T/C] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_R762W,Missense_R824W,Missense_R801W,Missense_R801W exm94867 1 150531078 [A/G] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_M799V,Missense_M861V,Missense_M838V,Missense_M838V exm94869 1 150531113 [G/C] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_D810E,Missense_D872E,Missense_D849E,Missense_D849E exm94871 1 150531137 [A/C] NM_001288607,NM_001288608,NM_025008,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Silent,Silent,Missense_E857D,Silent exm94880 1 150531469 [A/G] NM_001288607,NM_001288608,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_R825Q,Missense_R887Q,Missense_R864Q exm94886 1 150531565 [A/G] NM_001288607,NM_001288608,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_R857Q,Missense_R919Q,Missense_R896Q exm94887 1 150531580 [A/G] NM_001288607,NM_001288608,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_R862H,Missense_R924H,Missense_R901H exm94904 1 150531848 [T/C] NM_001288607,NM_001288608,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_P911L,Missense_P973L,Missense_P950L exm94908 1 150531905 [A/C] NM_001288607,NM_001288608,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_A930D,Missense_A992D,Missense_A969D exm94914 1 150532270 [T/C] NM_001288607,NM_001288608,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_R954W,Missense_R1016W,Missense_R993W exm94919 1 150532595 [A/G] NM_001288607,NM_001288608,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_V1011I,Missense_V1073I,Missense_V1050I exm94924 1 150532625 [C/G] NM_001288607,NM_001288608,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_R1021G,Missense_R1083G,Missense_R1060G exm94925 1 150532626 [A/G] NM_001288607,NM_001288608,NM_019032 ADAMTSL4,ADAMTSL4,ADAMTSL4 EXON Missense_R1021H,Missense_R1083H,Missense_R1060H rs6655975 1 150542128 [A/G] NR_104133 ADAMTSL4-AS1 Silent exm2231149 1 150549863 [A/G] NM_021960,NM_001197320,NM_182763 MCL1,MCL1,MCL1 EXON Synonymous_Y347Y,Synonymous_Y194Y,Missense_S265P indel.6387 1 150550701 [I/D] NM_021960,NM_001197320,NM_182763 MCL1,MCL1,MCL1 exm94943 1 150550761 [A/C] NM_021960,NM_001197320,NM_182763 MCL1,MCL1,MCL1 EXON Missense_V299L,Missense_V146L,Silent exm94952 1 150550965 [T/G] NM_021960,NM_001197320,NM_182763 MCL1,MCL1,MCL1 EXON Missense_M231L,Missense_M78L,Silent exm94958 1 150551327 [A/G] NM_021960,NM_001197320,NM_182763 MCL1,MCL1,MCL1 EXON Missense_A227V,Missense_A74V,Missense_A227V exm2249920 1 150551419 [T/C] NM_021960,NM_001197320,NM_182763 MCL1,MCL1,MCL1 EXON Synonymous_T196T,Synonymous_T43T,Synonymous_T196T exm94964 1 150551419 [T/C] NM_021960,NM_001197320,NM_182763 MCL1,MCL1,MCL1 EXON Synonymous_T196T,Synonymous_T43T,Synonymous_T196T exm94965 1 150551447 [T/C] NM_021960,NM_001197320,NM_182763 MCL1,MCL1,MCL1 EXON Missense_R187Q,Silent,Missense_R187Q exm94977 1 150551576 [A/G] NM_021960,NM_001197320,NM_182763 MCL1,MCL1,MCL1 EXON Missense_L144P,Silent,Missense_L144P exm94981 1 150551649 [T/C] NM_021960,NM_001197320,NM_182763 MCL1,MCL1,MCL1 EXON Missense_M120V,Silent,Missense_M120V rs11204675 1 150570985 [T/G] rs4970966 1 150584103 [T/G] rs12045807 1 150584834 [T/C] exm95005 1 150598965 [A/G] NM_207045,NM_207046,NM_004436,NM_207042,NM_207044,NM_207043,NM_207047 ENSA,ENSA,ENSA,ENSA,ENSA,ENSA,ENSA EXON Missense_A70V,Silent,Silent,Missense_A74V,Silent,Missense_A74V,Silent exm95011 1 150599849 [T/C] NM_207045,NM_207046,NM_004436,NM_207042,NM_207044,NM_207043,NM_207047,NM_207168 ENSA,ENSA,ENSA,ENSA,ENSA,ENSA,ENSA,ENSA EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V93I indel.6390 1 150599901 [I/D] NM_207045,NM_207046,NM_004436,NM_207042,NM_207044,NM_207043,NM_207047,NM_207168 ENSA,ENSA,ENSA,ENSA,ENSA,ENSA,ENSA,ENSA EXON variant.6391 1 150601537 [T/C] NM_207045,NM_207046,NM_004436,NM_207042,NM_207044,NM_207043,NM_207047,NM_207168 ENSA,ENSA,ENSA,ENSA,ENSA,ENSA,ENSA,ENSA EXON Synonymous_E15E,Synonymous_E15E,Silent,Silent,Silent,Silent,Synonymous_E15E,Silent exm95026 1 150620852 [T/C] NM_018178 GOLPH3L EXON Missense_K268R variant.6394 1 150620994 [A/G] NM_018178 GOLPH3L EXON Nonsense_R221X exm95031 1 150621007 [G/C] NM_018178 GOLPH3L EXON Missense_Q216H indel.6396 1 150636108 [I/D] NM_018178 GOLPH3L EXON exm95041 1 150636130 [T/C] NM_018178 GOLPH3L EXON Missense_K98R rs16839505 1 150651758 [A/G] NM_018178 GOLPH3L Silent exm-rs11204697 1 150658971 [T/C] NM_018178 GOLPH3L Silent exm95054 1 150667169 [A/G] NM_018178 GOLPH3L EXON Missense_M49T indel.6397 1 150667192 [D/I] NM_018178 GOLPH3L EXON exm2231150 1 150667199 [T/C] NM_018178 GOLPH3L EXON Missense_G39E exm95066 1 150672619 [T/C] NM_032132,NM_001199829 HORMAD1,HORMAD1 EXON Missense_R358Q,Missense_R351Q exm95068 1 150675830 [T/A] NM_032132,NM_001199829 HORMAD1,HORMAD1 EXON Missense_S330T,Missense_S323T exm95070 1 150676631 [A/G] NM_032132,NM_001199829 HORMAD1,HORMAD1 EXON Missense_S304F,Missense_S297F rs11807450 1 150677719 [T/C] NM_032132,NM_001199829 HORMAD1,HORMAD1 Silent,Silent exm95078 1 150679030 [T/C] NM_032132,NM_001199829 HORMAD1,HORMAD1 EXON Missense_S268N,Missense_S261N exm95079 1 150679033 [A/G] NM_032132,NM_001199829 HORMAD1,HORMAD1 EXON Missense_T267I,Missense_T260I newrs150156011 1 150679139 [A/G] NM_032132,NM_001199829 HORMAD1,HORMAD1 EXON Nonsense_R232X,Nonsense_R225X newrs147466313 1 150680779 [A/C] NM_032132,NM_001199829 HORMAD1,HORMAD1 EXON Nonsense_L167X,Nonsense_L160X exm95094 1 150684047 [T/C] NM_032132,NM_001199829 HORMAD1,HORMAD1 EXON Missense_V101I,Missense_V94I variant.6404 1 150691963 [A/G] NM_032132,NM_001199829 HORMAD1,HORMAD1 EXON Nonsense_Q7X,Nonsense_Q7X exm95119 1 150722511 [T/C] NM_004079,NM_001199739 CTSS,CTSS EXON Missense_R255H,Missense_R205H indel.6405 1 150724296 [I/D] NM_004079,NM_001199739 CTSS,CTSS EXON rs11576175 1 150727394 [A/G] NM_004079,NM_001199739 CTSS,CTSS Silent,Silent exm1713565 1 150727538 [T/C] NM_004079,NM_001199739 CTSS,CTSS EXON Missense_R113Q,Silent exm95130 1 150727539 [A/G] NM_004079,NM_001199739 CTSS,CTSS EXON Missense_R113W,Silent newrs145551238 1 150737156 [T/C] NM_004079,NM_001199739 CTSS,CTSS EXON Nonsense_W28X,Nonsense_W28X exm95141 1 150737220 [A/G] NM_004079,NM_001199739 CTSS,CTSS EXON Missense_V7A,Missense_V7A rs12125650 1 150760174 [A/G] rs10888395 1 150762171 [T/C] rs4319334 1 150766822 [A/G] rs11958 1 150768758 [T/G] NM_000396 CTSK EXON Silent kgp10791129 1 150771703 [T/C] NM_000396 CTSK EXON Synonymous_A277A rs10788796 1 150771703 [T/C] NM_000396 CTSK EXON Synonymous_A277A exm1713573 1 150771718 [A/T] NM_000396 CTSK EXON Missense_D272E exm95150 1 150771722 [T/C] NM_000396 CTSK EXON Missense_S271N exm95153 1 150772083 [A/G] NM_000396 CTSK EXON Nonsense_R241X kgp24971313 1 150772129 [T/C] NM_000396 CTSK EXON Synonymous_R225R variant.6410 1 150776547 [A/G] NM_000396 CTSK EXON Nonsense_Q190X variant.6411 1 150778372 [A/G] NM_000396 CTSK EXON Nonsense_R122X exm95171 1 150778652 [T/C] NM_000396 CTSK EXON Missense_I57V variant.6412 1 150778685 [A/G] NM_000396 CTSK EXON Missense_R46W kgp6076404 1 150782797 [T/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp15658851 1 150783042 [T/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10305754 1 150783139 [A/G] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp15264178 1 150783166 [A/G] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10305752 1 150783239 [D/I] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON rs10305751 1 150783458 [T/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp10026466 1 150783825 [T/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp5045619 1 150783934 [A/G] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11552229 1 150783985 [T/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp15686930 1 150784136 [A/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp15816954 1 150784491 [A/G] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp15762369 1 150784492 [T/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm95188 1 150784532 [G/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Missense_P763A,Missense_P778A,Missense_P764A,Missense_P777A,Missense_P777A,Missense_P765A,Missense_P770A,Missense_P779A kgp15775548 1 150785747 [T/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Synonymous_P711P,Synonymous_P726P,Synonymous_P712P,Synonymous_P725P,Synonymous_P725P,Synonymous_P713P,Synonymous_P718P,Synonymous_P727P rs2275237 1 150785811 [A/G] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Missense_P690L,Missense_P705L,Missense_P691L,Missense_P704L,Missense_P704L,Missense_P692L,Missense_P697L,Missense_P706L exm95198 1 150785811 [A/G] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Missense_P690L,Missense_P705L,Missense_P691L,Missense_P704L,Missense_P704L,Missense_P692L,Missense_P697L,Missense_P706L exm1713582 1 150786567 [T/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Missense_R684H,Missense_R699H,Missense_R685H,Missense_R698H,Missense_R698H,Missense_R686H,Missense_R691H,Missense_R700H exm95207 1 150788875 [T/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Missense_G589S,Missense_G603S,Missense_G589S,Missense_G602S,Missense_G602S,Missense_G590S,Missense_G595S,Missense_G604S exm95209 1 150789560 [A/G] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Missense_A551V,Missense_A565V,Missense_A551V,Missense_A564V,Missense_A566V,Missense_A552V,Missense_A557V,Missense_A566V exm95214 1 150789864 [A/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Missense_D502E,Missense_D516E,Missense_D502E,Missense_D515E,Missense_D517E,Missense_D503E,Missense_D508E,Missense_D517E exm95215 1 150789884 [T/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Missense_D496N,Missense_D510N,Missense_D496N,Missense_D509N,Missense_D511N,Missense_D497N,Missense_D502N,Missense_D511N kgp9229586 1 150789884 [T/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Missense_D496N,Missense_D510N,Missense_D496N,Missense_D509N,Missense_D511N,Missense_D497N,Missense_D502N,Missense_D511N rs2229175 1 150795775 [T/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Missense_R415Q,Missense_R429Q,Missense_R415Q,Missense_R428Q,Missense_R430Q,Missense_R416Q,Missense_R421Q,Missense_R430Q rs17855056 1 150801647 [T/G] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Missense_F348L,Missense_F362L,Missense_F348L,Missense_F361L,Missense_F363L,Missense_F349L,Missense_F354L,Missense_F363L exm95240 1 150804339 [T/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Missense_V289M,Missense_V303M,Missense_V289M,Missense_V302M,Missense_V304M,Missense_V295M,Missense_V295M,Missense_V304M exm95244 1 150804813 [A/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Missense_C274F,Missense_C288F,Missense_C274F,Missense_C287F,Missense_C289F,Missense_C280F,Missense_C280F,Missense_C289F kgp2698943 1 150808889 [G/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Synonymous_V174V,Synonymous_V188V,Synonymous_V174V,Synonymous_V187V,Synonymous_V189V,Synonymous_V180V,Synonymous_V180V,Synonymous_V189V exm95253 1 150808899 [A/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Missense_V171G,Missense_V185G,Missense_V171G,Missense_V184G,Missense_V186G,Missense_V177G,Missense_V177G,Missense_V186G rs10305679 1 150814802 [A/G] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17855059 1 150814902 [T/G] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Silent,Synonymous_A89A,Silent,Synonymous_A88A,Synonymous_A90A,Synonymous_A81A,Synonymous_A81A,Synonymous_A90A rs2134688 1 150816886 [A/G] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm95278 1 150830859 [T/C] NM_001197325,NM_001350225,NM_178427,NM_001350226,NM_001286036,NM_001286035,NM_001350224,NM_001668 ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT,ARNT EXON Missense_A35T,Synonymous_E22E,Missense_A35T,Synonymous_E22E,Missense_A35T,Missense_A26T,Missense_A26T,Missense_A35T rs16827772 1 150852054 [T/C] exm2268760 1 150856153 [T/G] rs7412746 1 150860471 [T/C] NR_148929 CTXND2 Silent rs10399947 1 150861960 [A/G] NR_148929 CTXND2 Silent rs533928 1 150884271 [A/G] NR_148929 CTXND2 Silent rs2292166 1 150884776 [A/G] NR_148929 CTXND2 EXON Silent exm95298 1 150900260 [C/G] NM_012432,NM_001145415,NM_001243491 SETDB1,SETDB1,SETDB1 EXON Missense_E24Q,Missense_E24Q,Missense_E24Q exm95303 1 150900342 [T/C] NM_012432,NM_001145415,NM_001243491 SETDB1,SETDB1,SETDB1 EXON Missense_M51T,Missense_M51T,Missense_M51T exm95330 1 150916469 [T/C] NM_012432,NM_001145415,NM_001243491 SETDB1,SETDB1,SETDB1 EXON Synonymous_L317L,Synonymous_L317L,Synonymous_L317L newrs142077867 1 150916469 [T/C] NM_012432,NM_001145415,NM_001243491 SETDB1,SETDB1,SETDB1 EXON Synonymous_L317L,Synonymous_L317L,Synonymous_L317L exm95338 1 150921669 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_P447S,Missense_P447S exm95346 1 150922939 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_P529L,Missense_P529L exm95353 1 150923100 [A/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_L583M,Missense_L583M exm95381 1 150933468 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_P977L,Missense_P977L exm95382 1 150933514 [A/T] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_E992D,Missense_E992D exm95386 1 150933591 [T/G] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_R1018L,Missense_R1018L exm95387 1 150933600 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_A1021V,Missense_A1021V exm95398 1 150935124 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_R1074C,Missense_R1074C exm95399 1 150935127 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_R1075C,Missense_R1075C var_1_150935160 1 150935160 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Nonsense_R1086X,Nonsense_R1086X exm95403 1 150935173 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_A1090V,Missense_A1090V newrs148336558 1 150935195 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Synonymous_D1097D,Synonymous_D1097D exm95411 1 150935614 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Synonymous_T1152T,Synonymous_T1152T rs10157132 1 150935968 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 Silent,Silent indel.6418 1 150936087 [D/I] NM_012432,NM_001145415 SETDB1,SETDB1 EXON exm95422 1 150936217 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Synonymous_N1223N,Synonymous_N1223N rs8444 1 150938571 [A/G] NM_181746,NM_022075 CERS2,CERS2 EXON Silent,Silent variant.6420 1 150938638 [A/G] NM_181746,NM_022075 CERS2,CERS2 EXON Missense_R377C,Missense_R377C 1KG_1_150938672 1 150938672 [I/D] NM_181746,NM_022075 CERS2,CERS2 EXON exm2249923 1 150939279 [A/G] NM_181746,NM_022075 CERS2,CERS2 EXON Synonymous_V267V,Synonymous_V267V exm95443 1 150939281 [T/C] NM_181746,NM_022075 CERS2,CERS2 EXON Missense_V267I,Missense_V267I exm95462 1 150940296 [A/G] NM_181746,NM_022075 CERS2,CERS2 EXON Synonymous_D156D,Synonymous_D156D exm95464 1 150940307 [T/C] NM_181746,NM_022075 CERS2,CERS2 EXON Missense_V153I,Missense_V153I exm95465 1 150940308 [A/G] NM_181746,NM_022075 CERS2,CERS2 EXON Synonymous_A152A,Synonymous_A152A exm95472 1 150940625 [T/G] NM_181746,NM_022075 CERS2,CERS2 EXON Missense_E115A,Missense_E115A exm95477 1 150940655 [T/C] NM_181746,NM_022075 CERS2,CERS2 EXON Missense_R105Q,Missense_R105Q exm95481 1 150940919 [A/G] NM_181746,NM_022075 CERS2,CERS2 EXON Synonymous_N81N,Synonymous_N81N exm95482 1 150940920 [T/C] NM_181746,NM_022075 CERS2,CERS2 EXON Missense_N81S,Missense_N81S exm-rs267734 1 150951477 [T/C] rs3754211 1 150951857 [A/G] exm95494 1 150955582 [A/G] NM_003568 ANXA9 EXON Missense_M1V exm95499 1 150955610 [T/C] NM_003568 ANXA9 EXON Missense_P10L exm95502 1 150955820 [A/G] NM_003568 ANXA9 EXON Missense_A28T exm95505 1 150955898 [A/G] NM_003568 ANXA9 EXON Missense_I54V exm95508 1 150956469 [T/C] NM_003568 ANXA9 EXON Missense_I64T exm95515 1 150956535 [T/G] NM_003568 ANXA9 EXON Missense_R86L exm95517 1 150956829 [A/G] NM_003568 ANXA9 EXON Missense_T114A exm95519 1 150956844 [A/G] NM_003568 ANXA9 EXON Missense_A119T exm95520 1 150957061 [A/G] NM_003568 ANXA9 Silent exm95521 1 150957128 [A/G] NM_003568 ANXA9 EXON Missense_E150K exm95523 1 150958836 [A/G] NM_003568 ANXA9 EXON Missense_D166G exm95527 1 150959078 [C/G] NM_003568 ANXA9 EXON Missense_G185R var_1_150959142 1 150959142 [T/G] NM_003568 ANXA9 Silent exm2231159 1 150960423 [T/C] NM_003568 ANXA9 EXON Missense_L230F exm95530 1 150960430 [A/G] NM_003568 ANXA9 EXON Missense_R232Q exm95532 1 150960593 [A/G] NM_003568 ANXA9 EXON Missense_G242R exm95534 1 150960762 [T/C] NM_003568 ANXA9 EXON Missense_S266L exm95535 1 150960780 [T/C] NM_003568 ANXA9 EXON Missense_P272L exm95537 1 150960817 [C/G] NM_003568 ANXA9 EXON Missense_Q284H rs11204754 1 150961254 [T/C] NM_003568 ANXA9 Silent variant.6431 1 150967098 [T/C] NM_003568 ANXA9 EXON Nonsense_R300X exm95540 1 150967111 [A/G] NM_003568 ANXA9 EXON Missense_D304G indel.6432 1 150967138 [D/I] NM_003568 ANXA9 EXON exm2273335 1 150969567 [A/G] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 EXON Silent,Silent,Silent,Silent,Silent,Silent variant.6433 1 150970049 [T/G] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 Silent,Silent,Silent,Silent,Silent,Silent exm95555 1 150970119 [A/G] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 EXON Missense_T437M,Missense_T342M,Missense_T485M,Missense_T437M,Missense_T295M,Missense_T295M exm2231161 1 150970216 [A/G] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 EXON Nonsense_R405X,Nonsense_R310X,Nonsense_R453X,Nonsense_R405X,Nonsense_R263X,Nonsense_R263X var_1_150970553 1 150970553 [T/C] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 Silent,Silent,Silent,Silent,Silent,Silent exm95563 1 150970577 [T/G] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 EXON Missense_T385K,Missense_T290K,Missense_T433K,Missense_T385K,Missense_T243K,Missense_T243K exm95569 1 150970680 [A/G] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 EXON Missense_H351Y,Missense_H256Y,Missense_H399Y,Missense_H351Y,Missense_H209Y,Missense_H209Y exm95572 1 150971879 [T/C] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 EXON Missense_R316Q,Missense_R221Q,Missense_R364Q,Missense_R316Q,Missense_R174Q,Missense_R174Q exm95573 1 150971880 [A/G] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 EXON Nonsense_R316X,Nonsense_R221X,Nonsense_R364X,Nonsense_R316X,Nonsense_R174X,Nonsense_R174X exm95579 1 150971949 [A/G] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 EXON Nonsense_Q293X,Nonsense_Q198X,Nonsense_Q341X,Nonsense_Q293X,Nonsense_Q151X,Nonsense_Q151X exm95586 1 150972959 [A/T] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 EXON Missense_Y237N,Missense_Y142N,Missense_Y285N,Missense_Y237N,Missense_Y95N,Missense_Y95N exm95589 1 150973013 [T/C] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 EXON Missense_D219N,Missense_D124N,Missense_D267N,Missense_D219N,Missense_D77N,Missense_D77N exm95596 1 150974202 [A/G] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 EXON Synonymous_L170L,Synonymous_L75L,Synonymous_L218L,Synonymous_L170L,Synonymous_L28L,Synonymous_L28L variant.6441 1 150974640 [T/C] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 Silent,Silent,Silent,Silent,Silent,Silent exm95602 1 150974740 [T/C] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 EXON Nonsense_W118X,Nonsense_W23X,Nonsense_W166X,Nonsense_W118X,Silent,Silent exm95607 1 150974828 [T/C] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 EXON Missense_E89G,Silent,Missense_E137G,Missense_E89G,Silent,Silent exm95608 1 150974861 [A/G] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 EXON Missense_P78L,Silent,Missense_P126L,Missense_P78L,Silent,Silent exm95615 1 150974971 [T/A] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 EXON Missense_R41S,Silent,Missense_R89S,Missense_R41S,Silent,Silent exm95619 1 150975108 [T/C] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 EXON Silent,Silent,Missense_K44E,Silent,Silent,Silent var_1_150975123 1 150975123 [A/G] NM_001319998,NM_001163259,NM_001163258,NM_018379,NM_001040217,NM_001163260 MINDY1,MINDY1,MINDY1,MINDY1,MINDY1,MINDY1 EXON Silent,Silent,Nonsense_Q39X,Silent,Silent,Silent exm95624 1 150990292 [T/C] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 EXON Missense_S15F,Silent,Silent,Missense_S15F,Silent,Silent,Silent,Silent exm95625 1 150990304 [A/G] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 EXON Missense_H19R,Silent,Silent,Missense_H19R,Silent,Silent,Silent,Silent exm95626 1 150990325 [C/G] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 EXON Missense_A26G,Silent,Silent,Missense_A26G,Silent,Silent,Silent,Silent indel.6445 1 150990369 [I/D] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 EXON rs3738480 1 150990825 [A/G] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent newrs137929776 1 150991006 [T/C] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 EXON Nonsense_R66X,Silent,Silent,Nonsense_R66X,Silent,Silent,Silent,Silent exm95637 1 150991132 [T/C] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 EXON Missense_H108Y,Silent,Synonymous_I21I,Missense_H108Y,Silent,Silent,Silent,Silent exm95641 1 150997155 [A/G] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 EXON Missense_C135Y,Silent,Silent,Missense_C135Y,Silent,Silent,Silent,Silent exm95644 1 150997211 [A/G] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 EXON Missense_E154K,Silent,Silent,Missense_E154K,Silent,Silent,Silent,Silent rs3820539 1 150997723 [A/G] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3738478 1 150997940 [T/C] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm95649 1 150998110 [A/G] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 EXON Missense_I214V,Silent,Silent,Missense_I214V,Missense_I32V,Silent,Silent,Silent variant.6447 1 150999741 [T/C] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 EXON Nonsense_Q238X,Silent,Nonsense_Q37X,Nonsense_Q238X,Nonsense_Q56X,Silent,Silent,Silent exm95656 1 150999765 [A/G] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 EXON Missense_V246I,Silent,Missense_V45I,Missense_V246I,Missense_V64I,Silent,Silent,Silent exm95663 1 151001419 [T/C] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 EXON Silent,Silent,Missense_T110M,Missense_T311M,Missense_T129M,Silent,Silent,Silent exm95666 1 151006310 [T/C] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 EXON Missense_S268F,Silent,Missense_S120F,Missense_S321F,Missense_S139F,Silent,Silent,Silent exm95669 1 151006406 [C/G] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 EXON Missense_P300R,Silent,Missense_P152R,Missense_P353R,Missense_P171R,Silent,Silent,Silent exm95674 1 151006537 [A/G] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 EXON Missense_G344S,Silent,Missense_G196S,Missense_G397S,Missense_G215S,Silent,Silent,Silent exm95679 1 151006691 [T/C] NM_001303242,NR_130130,NM_001303243,NM_021222,NM_001303229,NR_130132,NR_130135,NR_130131 PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1,PRUNE1 EXON Missense_A395V,Silent,Missense_A247V,Missense_A448V,Missense_A266V,Silent,Silent,Silent rs7540258 1 151008852 [A/G] exm95682 1 151009208 [A/G] NM_001159642,NM_138278 BNIPL,BNIPL EXON Silent,Missense_T3A indel.6448 1 151009230 [D/I] NM_001159642,NM_138278 BNIPL,BNIPL EXON indel.6449 1 151009233 [I/D] NM_001159642,NM_138278 BNIPL,BNIPL EXON indel.6450 1 151009243 [I/D] NM_001159642,NM_138278 BNIPL,BNIPL exm95696 1 151011325 [T/C] NM_001159642,NM_138278 BNIPL,BNIPL EXON Missense_R4C,Missense_R86C exm95698 1 151011347 [A/G] NM_001159642,NM_138278 BNIPL,BNIPL EXON Missense_R11Q,Missense_R93Q exm95700 1 151011437 [T/C] NM_001159642,NM_138278 BNIPL,BNIPL EXON Missense_I41T,Missense_I123T exm95707 1 151015495 [A/G] NM_001159642,NM_138278 BNIPL,BNIPL EXON Missense_C84Y,Missense_C166Y exm95712 1 151015564 [A/G] NM_001159642,NM_138278 BNIPL,BNIPL EXON Missense_R107H,Missense_R189H exm95713 1 151015816 [A/G] NM_001159642,NM_138278 BNIPL,BNIPL EXON Missense_G127S,Missense_G209S exm95714 1 151015832 [T/C] NM_001159642,NM_138278 BNIPL,BNIPL EXON Missense_A132V,Missense_A214V exm95715 1 151015868 [A/G] NM_001159642,NM_138278 BNIPL,BNIPL EXON Missense_S144N,Missense_S226N exm95717 1 151016109 [A/G] NM_001159642,NM_138278 BNIPL,BNIPL EXON Missense_N171D,Missense_N253D exm2249924 1 151016150 [G/C] NM_001159642,NM_138278 BNIPL,BNIPL EXON Synonymous_A184A,Synonymous_A266A exm95719 1 151016171 [A/G] NM_001159642,NM_138278 BNIPL,BNIPL EXON Nonsense_W191X,Nonsense_W273X exm95721 1 151016175 [T/C] NM_001159642,NM_138278 BNIPL,BNIPL EXON Missense_R193C,Missense_R275C exm1713781 1 151016188 [A/G] NM_001159642,NM_138278 BNIPL,BNIPL EXON Missense_R197H,Missense_R279H variant.6454 1 151016202 [T/C] NM_001159642,NM_138278 BNIPL,BNIPL EXON Missense_R202W,Missense_R284W variant.6455 1 151016203 [A/G] NM_001159642,NM_138278 BNIPL,BNIPL EXON Missense_R202Q,Missense_R284Q variant.6457 1 151018541 [A/G] NM_001159642,NM_138278 BNIPL,BNIPL Silent,Silent exm95736 1 151018565 [T/C] NM_001159642,NM_138278 BNIPL,BNIPL EXON Missense_R239C,Missense_R321C exm95737 1 151018566 [A/G] NM_001159642,NM_138278 BNIPL,BNIPL EXON Missense_R239H,Missense_R321H rs6587552 1 151018861 [A/G] NM_001159642,NM_138278 BNIPL,BNIPL Silent,Silent exm95739 1 151019128 [T/C] NM_001159642,NM_138278 BNIPL,BNIPL EXON Synonymous_L265L,Synonymous_L347L exm95752 1 151020469 [A/G] NM_017860 C1orf56 EXON Missense_R49Q exm95753 1 151020478 [T/C] NM_017860 C1orf56 EXON Missense_A52V exm95754 1 151020534 [A/G] NM_017860 C1orf56 EXON Missense_M71V exm95764 1 151020856 [T/C] NM_017860 C1orf56 EXON Missense_P178L exm95772 1 151021096 [T/G] NM_017860 C1orf56 EXON Missense_L258R exm95777 1 151021185 [C/G] NM_017860 C1orf56 EXON Missense_P288A variant.6460 1 151021291 [A/G] NM_017860 C1orf56 EXON Nonsense_W323X indel.6461 1 151021299 [D/I] NM_017860 C1orf56 EXON variant.6462 1 151021329 [T/G] NM_017860 C1orf56 Silent rs6664387 1 151021509 [A/G] NM_017860 C1orf56 Silent var_1_151022960 1 151022961 [D/I] NM_017860 C1orf56 EXON variant.6464 1 151022965 [A/G] NM_017860 C1orf56 EXON Silent rs6658772 1 151023674 [T/C] NM_001038707,NM_020239 CDC42SE1,CDC42SE1 EXON Silent,Silent variant.6465 1 151027490 [A/G] NM_001038707,NM_020239 CDC42SE1,CDC42SE1 Silent,Silent exm95794 1 151028154 [A/G] NM_001038707,NM_020239 CDC42SE1,CDC42SE1 EXON Missense_P18L,Missense_P18L exm95803 1 151039845 [T/A] NM_006818 MLLT11 EXON Missense_I49F exm95814 1 151062922 [A/G] NM_001323906,NM_001323907,NM_001323913,NM_001323910,NM_001323912,NM_001323911,NM_001323908,NM_001323909,NM_144618 GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2 EXON Missense_H50R,Silent,Silent,Missense_H66R,Silent,Missense_H50R,Missense_H50R,Missense_H50R,Missense_H50R exm95817 1 151062957 [A/G] NM_001323906,NM_001323907,NM_001323913,NM_001323910,NM_001323912,NM_001323911,NM_001323908,NM_001323909,NM_144618 GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2 EXON Missense_V62I,Silent,Silent,Missense_V78I,Silent,Missense_V62I,Missense_V62I,Missense_V62I,Missense_V62I exm95822 1 151065732 [A/G] NM_001323906,NM_001323907,NM_001323913,NM_001323910,NM_001323912,NM_001323911,NM_001323908,NM_001323909,NM_144618 GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2 EXON Missense_R114H,Missense_R74H,Missense_R58H,Missense_R130H,Missense_R58H,Missense_R114H,Missense_R114H,Missense_R114H,Missense_R114H variant.6467 1 151065740 [T/C] NM_001323906,NM_001323907,NM_001323913,NM_001323910,NM_001323912,NM_001323911,NM_001323908,NM_001323909,NM_144618 GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2 EXON Nonsense_R117X,Nonsense_R77X,Nonsense_R61X,Nonsense_R133X,Nonsense_R61X,Nonsense_R117X,Nonsense_R117X,Nonsense_R117X,Nonsense_R117X exm95833 1 151076050 [T/C] NM_001323906,NM_001323907,NM_001323913,NM_001323910,NM_001323912,NM_001323911,NM_001323908,NM_001323909,NM_144618 GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2 EXON Missense_A212V,Silent,Missense_A156V,Missense_A228V,Silent,Silent,Missense_A212V,Silent,Missense_A212V exm95835 1 151076116 [A/C] NM_001323906,NM_001323907,NM_001323913,NM_001323910,NM_001323912,NM_001323911,NM_001323908,NM_001323909,NM_144618 GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2 EXON Missense_A234E,Silent,Missense_A178E,Missense_A250E,Silent,Silent,Missense_A234E,Silent,Missense_A234E rs6676190 1 151079317 [T/C] NM_001323906,NM_001323907,NM_001323913,NM_001323910,NM_001323912,NM_001323911,NM_001323908,NM_001323909,NM_144618 GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.6468 1 151079524 [I/D] NM_001323906,NM_001323907,NM_001323913,NM_001323910,NM_001323912,NM_001323911,NM_001323908,NM_001323909,NM_144618 GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2 EXON exm95840 1 151079552 [T/C] NM_001323906,NM_001323907,NM_001323913,NM_001323910,NM_001323912,NM_001323911,NM_001323908,NM_001323909,NM_144618 GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2 EXON Missense_S259L,Missense_S181L,Missense_S203L,Missense_S275L,Missense_S165L,Missense_S221L,Missense_S259L,Missense_S221L,Missense_S259L exm95842 1 151079590 [A/G] NM_001323906,NM_001323907,NM_001323913,NM_001323910,NM_001323912,NM_001323911,NM_001323908,NM_001323909,NM_144618 GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2 EXON Missense_V272I,Missense_V194I,Missense_V216I,Missense_V288I,Missense_V178I,Missense_V234I,Missense_V272I,Missense_V234I,Missense_V272I exm95849 1 151089885 [C/G] NM_001323906,NM_001323907,NM_001323913,NM_001323910,NM_001323912,NM_001323911,NM_001323908,NM_001323909,NM_144618 GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2 EXON Missense_G314R,Missense_G236R,Missense_G258R,Missense_G330R,Missense_G220R,Missense_G276R,Missense_G314R,Missense_G276R,Missense_G314R exm95850 1 151089888 [A/C] NM_001323906,NM_001323907,NM_001323913,NM_001323910,NM_001323912,NM_001323911,NM_001323908,NM_001323909,NM_144618 GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2 EXON Missense_K315Q,Missense_K237Q,Missense_K259Q,Missense_K331Q,Missense_K221Q,Missense_K277Q,Missense_K315Q,Missense_K277Q,Missense_K315Q exm95857 1 151090542 [A/G] NM_001323906,NM_001323907,NM_001323913,NM_001323910,NM_001323912,NM_001323911,NM_001323908,NM_001323909,NM_144618 GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2 EXON Missense_R386H,Missense_R308H,Missense_R330H,Missense_R402H,Missense_R292H,Missense_R348H,Missense_R386H,Missense_R348H,Missense_R386H exm95858 1 151090565 [T/C] NM_001323906,NM_001323907,NM_001323913,NM_001323910,NM_001323912,NM_001323911,NM_001323908,NM_001323909,NM_144618 GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2 EXON Nonsense_R394X,Nonsense_R316X,Nonsense_R338X,Nonsense_R410X,Nonsense_R300X,Nonsense_R356X,Nonsense_R394X,Nonsense_R356X,Nonsense_R394X exm95861 1 151090581 [A/G] NM_001323906,NM_001323907,NM_001323913,NM_001323910,NM_001323912,NM_001323911,NM_001323908,NM_001323909,NM_144618 GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2,GABPB2 EXON Missense_G399E,Missense_G321E,Missense_G343E,Missense_G415E,Missense_G305E,Missense_G361E,Missense_G399E,Missense_G361E,Missense_G399E rs4970998 1 151091181 [A/G] NM_001323906,NM_001323911 GABPB2,GABPB2 Silent,Silent rs4971005 1 151104598 [A/G] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Silent,Silent,Silent exm95874 1 151105169 [T/C] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_A894T,Missense_A862T,Missense_A854T exm95881 1 151105547 [A/G] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_R768W,Missense_R736W,Missense_R728W exm95898 1 151105831 [T/C] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_E673G,Missense_E641G,Missense_E633G exm95910 1 151107140 [T/G] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_D557A,Missense_D557A,Missense_D517A exm95916 1 151107277 [T/C] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_G552D,Missense_G552D,Missense_G512D exm95917 1 151107304 [G/C] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_R543T,Missense_R543T,Missense_R503T exm95933 1 151108137 [T/G] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_T455P,Missense_T455P,Missense_T415P exm95945 1 151108622 [T/C] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_G375E,Missense_G375E,Missense_G335E exm95948 1 151108993 [T/G] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_K346T,Missense_K346T,Missense_K306T exm95958 1 151109517 [A/G] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_R264C,Missense_R264C,Missense_R224C exm95962 1 151110221 [T/C] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_R241H,Missense_R241H,Missense_R201H variant.6478 1 151110261 [A/G] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Nonsense_Q228X,Nonsense_Q228X,Nonsense_Q188X exm95969 1 151110500 [C/G] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_P210R,Missense_P210R,Silent exm95971 1 151110510 [A/G] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_P207S,Missense_P207S,Silent exm95980 1 151111901 [T/C] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Synonymous_T118T,Synonymous_T118T,Synonymous_T118T exm95991 1 151112158 [T/C] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_D85N,Missense_D85N,Missense_D85N exm95995 1 151112483 [T/C] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_T68A,Missense_T68A,Missense_T68A exm95998 1 151115007 [A/G] NM_001178061,NM_030913,NM_001178062 SEMA6C,SEMA6C,SEMA6C EXON Missense_L31F,Missense_L31F,Missense_L31F exm2259804 1 151122489 [T/C] rs2067606 1 151129254 [A/G] NM_024575,NM_001204848,NR_144937 TNFAIP8L2,TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1 Silent,Silent,Silent exm96009 1 151131288 [A/C] NM_024575,NM_001204848,NR_144937 TNFAIP8L2,TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1 EXON Missense_L39I,Silent,Silent exm1713874 1 151131322 [C/G] NM_024575,NM_001204848,NR_144937 TNFAIP8L2,TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1 EXON Missense_T50R,Silent,Silent exm96015 1 151131444 [T/C] NM_024575,NM_001204848,NR_144937 TNFAIP8L2,TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1 EXON Missense_R91C,Silent,Silent exm96020 1 151131507 [A/G] NM_024575,NM_001204848,NR_144937 TNFAIP8L2,TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1 EXON Missense_E112K,Silent,Silent exm96044 1 151133450 [T/G] NM_001204848,NR_144937,NM_001136543,NM_212551 TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Silent,Missense_Q150K,Missense_Q198K exm96046 1 151134293 [C/G] NM_001204848,NR_144937,NM_001136543,NM_212551 TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Silent,Missense_S107C,Missense_S155C exm96047 1 151134320 [A/G] NM_001204848,NR_144937,NM_001136543,NM_212551 TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Silent,Missense_P98L,Missense_P146L exm96050 1 151134362 [T/C] NM_001204848,NR_144937,NM_001136543,NM_212551 TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Silent,Missense_R84H,Missense_R132H exm96061 1 151137632 [C/G] NM_001204848,NR_144937,NM_001136543,NM_212551 TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Silent,Silent,Missense_V35L exm96062 1 151137646 [T/G] NM_001204848,NR_144937,NM_001136543,NM_212551 TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Silent,Silent,Nonsense_S30X exm96069 1 151138250 [T/G] NM_001204848,NR_144937,NM_001136543,NM_212551 TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Silent,Missense_S3R,Silent variant.6485 1 151138658 [A/G] NM_001204848,NR_144937,NM_001204856,NM_024041,NR_037937 TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Silent,Silent,Silent,Nonsense_W10X,Silent exm96077 1 151138669 [A/G] NM_001204848,NR_144937,NM_001204856,NM_024041,NR_037937 TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Silent,Silent,Silent,Missense_N14S,Silent exm1713883 1 151139001 [T/A] NM_001204848,NR_144937,NM_001204856,NM_024041,NR_037937 TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_M1L,Silent,Missense_M1L,Missense_M36L,Silent exm96086 1 151139597 [G/C] NM_001204848,NR_144937,NM_001204856,NM_024041,NR_037937 TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_S36T,Silent,Missense_S36T,Missense_S71T,Silent exm96094 1 151139877 [T/C] NM_001204848,NR_144937,NM_001204856,NM_024041,NR_037937 TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_R94C,Silent,Missense_R94C,Missense_R129C,Silent exm96102 1 151140676 [A/G] NM_001204848,NR_144937,NM_001204856,NM_024041,NR_037937 TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_K117R,Silent,Missense_K117R,Missense_K152R,Silent exm96106 1 151140732 [A/G] NM_001204848,NR_144937,NM_001204856,NM_024041,NR_037937 TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_E136K,Silent,Missense_E136K,Missense_E171K,Silent exm96107 1 151140742 [T/C] NM_001204848,NR_144937,NM_001204856,NM_024041,NR_037937 TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_A139V,Silent,Missense_A139V,Missense_A174V,Silent variant.6491 1 151140783 [T/C] NM_001204848,NR_144937,NM_001204856,NM_024041,NR_037937 TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Nonsense_R153X,Silent,Nonsense_R153X,Nonsense_R188X,Silent exm96111 1 151141485 [G/C] NM_001204848,NR_144937,NM_001204856,NM_024041,NR_037937 TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_R171P,Silent,Missense_R171P,Missense_R206P,Silent exm96112 1 151141495 [G/C] NM_001204848,NR_144937,NM_001204856,NM_024041,NR_037937 TNFAIP8L2-SCNM1,TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_W174C,Silent,Missense_W174C,Missense_W209C,Silent exm96120 1 151142995 [A/G] NM_013353 TMOD4 EXON Missense_R339C exm96121 1 151143003 [T/C] NM_013353 TMOD4 EXON Missense_N336S exm96123 1 151143009 [T/C] NM_013353 TMOD4 EXON Missense_R334Q exm96125 1 151143012 [T/G] NM_013353 TMOD4 EXON Missense_T333N exm96126 1 151143016 [T/C] NM_013353 TMOD4 EXON Missense_M332V exm96129 1 151143043 [T/C] NM_013353 TMOD4 EXON Missense_G323R exm96135 1 151143138 [T/C] NM_013353 TMOD4 EXON Missense_R291H exm96140 1 151143437 [A/G] NM_013353 TMOD4 EXON Missense_R277W exm96149 1 151143970 [C/G] NM_013353 TMOD4 EXON Missense_A222G exm96150 1 151144001 [T/G] NM_013353 TMOD4 EXON Missense_M212L variant.6495 1 151144156 [A/G] NM_013353 TMOD4 EXON Nonsense_R191X exm96157 1 151144206 [A/G] NM_013353 TMOD4 EXON Missense_P174L exm96158 1 151144240 [G/C] NM_013353 TMOD4 Silent exm96159 1 151144746 [G/C] NM_013353 TMOD4 EXON Missense_S162T exm96166 1 151146010 [C/G] NM_013353 TMOD4 EXON Missense_A121G exm96171 1 151146954 [A/G] NM_013353 TMOD4 EXON Nonsense_R65X variant.6499 1 151147025 [T/C] NM_013353 TMOD4 Silent exm96182 1 151149265 [T/C] NM_001271088,NM_001271087,NM_005997 VPS72,VPS72,VPS72 EXON Silent,Missense_K328R,Missense_K317R exm96188 1 151149392 [T/C] NM_001271088,NM_001271087,NM_005997 VPS72,VPS72,VPS72 EXON Silent,Missense_E286K,Missense_E275K exm96192 1 151149452 [T/C] NM_001271088,NM_001271087,NM_005997 VPS72,VPS72,VPS72 EXON Silent,Missense_V266I,Missense_V255I exm96195 1 151149487 [A/G] NM_001271088,NM_001271087,NM_005997 VPS72,VPS72,VPS72 EXON Silent,Missense_V254A,Missense_V243A exm96197 1 151149490 [A/G] NM_001271088,NM_001271087,NM_005997 VPS72,VPS72,VPS72 EXON Silent,Missense_S253L,Missense_S242L exm96213 1 151158036 [T/C] NM_001271088,NM_001271087,NM_005997 VPS72,VPS72,VPS72 EXON Missense_A111T,Missense_A111T,Missense_A111T rs4971013 1 151173113 [A/G] NM_001330689,NM_001135638,NM_001135637,NM_001135636,NM_003557 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A Silent,Silent,Silent,Silent,Silent rs1892196 1 151193897 [A/G] NM_001330689,NM_001135638,NM_001135637,NM_001135636,NM_003557 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A Silent,Silent,Silent,Silent,Silent variant.6505 1 151196719 [A/G] NM_001330689,NM_001135638,NM_001135637,NM_001135636,NM_003557 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A Silent,Silent,Silent,Silent,Silent variant.6506 1 151196755 [A/G] NM_001330689,NM_001135638,NM_001135637,NM_001135636,NM_003557 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A EXON Synonymous_E40E,Synonymous_E40E,Synonymous_E39E,Synonymous_E40E,Synonymous_E39E variant.6507 1 151196845 [A/G] NM_001330689,NM_001135638,NM_001135637,NM_001135636,NM_003557 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A Silent,Silent,Silent,Silent,Silent exm96238 1 151196856 [T/G] NM_001330689,NM_001135638,NM_001135637,NM_001135636,NM_003557 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A EXON Silent,Missense_A44S,Silent,Silent,Silent rs7527032 1 151203313 [T/C] NM_001330689,NM_001135638,NM_001135637,NM_001135636,NM_003557 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A Silent,Silent,Silent,Silent,Silent variant.6508 1 151204282 [A/C] NM_001330689,NM_001135638,NM_001135637,NM_001135636,NM_003557 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A Silent,Silent,Silent,Silent,Silent exm1713956 1 151214944 [T/C] NM_001330689,NM_001135638,NM_001135637,NM_001135636,NM_003557 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A EXON Missense_P502L,Missense_P514L,Missense_P452L,Missense_P474L,Missense_P501L variant.6511 1 151220367 [T/C] NM_001330689,NM_001135638,NM_001135637,NM_001135636,NM_003557 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A EXON Silent,Silent,Silent,Silent,Silent exm2249926 1 151230929 [T/G] NM_001330692,NM_002810 PSMD4,PSMD4 Silent,Silent rs4636463 1 151233080 [T/C] NM_001330692,NM_002810 PSMD4,PSMD4 Silent,Silent exm2249927 1 151237908 [A/G] NM_001330692,NM_002810 PSMD4,PSMD4 EXON Synonymous_T159T,Synonymous_T159T exm96375 1 151259113 [A/G] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_G116R,Missense_G116R,Missense_G116R exm96379 1 151259294 [T/C] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_P176L,Missense_P176L,Missense_P176L exm96391 1 151259543 [A/G] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_G259E,Missense_G259E,Missense_G259E exm96394 1 151259628 [A/T] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_E287D,Missense_E287D,Missense_E287D exm96395 1 151259666 [T/G] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_G300V,Missense_G300V,Missense_G300V exm2249928 1 151259730 [G/C] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Synonymous_A321A,Synonymous_A321A,Synonymous_A321A exm96403 1 151259855 [T/C] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_A363V,Missense_A363V,Missense_A363V exm96405 1 151259899 [T/C] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_P378S,Missense_P378S,Missense_P378S exm96426 1 151260472 [T/C] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_R569C,Missense_R569C,Missense_R569C exm96431 1 151260538 [A/G] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_V591I,Missense_V591I,Missense_V591I exm96434 1 151260673 [A/G] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_G636S,Missense_G636S,Missense_G636S exm96437 1 151260715 [A/G] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_A650T,Missense_A650T,Missense_A650T exm96465 1 151262200 [T/C] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_A894V,Missense_A894V,Missense_A894V exm96468 1 151262332 [A/C] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_P938H,Missense_P938H,Missense_P938H exm96487 1 151262945 [G/C] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_L1039V,Missense_L1039V,Missense_L1039V exm2273689 1 151263026 [T/C] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_R1066W,Missense_R1066W,Missense_R1066W exm96494 1 151263209 [T/C] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_R1080C,Missense_R1080C,Missense_R1080C exm96503 1 151263308 [T/C] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_R1113C,Missense_R1113C,Missense_R1113C exm96504 1 151263315 [A/G] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_R1115Q,Missense_R1115Q,Missense_R1115Q exm96509 1 151263397 [T/G] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_L1142F,Missense_L1142F,Missense_L1142F exm96514 1 151263456 [A/G] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_R1162Q,Missense_R1162Q,Missense_R1162Q exm96519 1 151263530 [A/G] NM_001304764,NM_020832,NM_001304763 ZNF687,ZNF687,ZNF687 EXON Missense_D1187N,Missense_D1187N,Missense_D1187N exm2249929 1 151265463 [C/G] NM_001198773,NM_001330721,NM_002651,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB,PI4KB EXON Synonymous_L757L,Synonymous_L772L,Synonymous_L784L,Synonymous_L757L,Synonymous_L440L exm96536 1 151265463 [C/G] NM_001198773,NM_001330721,NM_002651,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB,PI4KB EXON Synonymous_L757L,Synonymous_L772L,Synonymous_L784L,Synonymous_L757L,Synonymous_L440L exm96548 1 151271498 [G/C] NM_001198773,NM_001330721,NM_002651,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB,PI4KB EXON Missense_L586V,Missense_L601V,Missense_L613V,Missense_L586V,Missense_L269V rs10888409 1 151271782 [A/C] NM_001198773,NM_001330721,NM_002651,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB,PI4KB Silent,Silent,Silent,Silent,Silent variant.6517 1 151282687 [A/G] NM_001198773,NM_001330721,NM_002651,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB,PI4KB EXON Silent,Synonymous_S318S,Synonymous_S330S,Silent,Silent exm96573 1 151288095 [T/C] NM_001198773,NM_001330721,NM_002651,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB,PI4KB EXON Missense_N288S,Missense_N288S,Missense_N300S,Missense_N288S,Silent rs1056847 1 151288172 [A/G] NM_001198773,NM_001330721,NM_002651,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB,PI4KB EXON Synonymous_D262D,Synonymous_D262D,Synonymous_D274D,Synonymous_D262D,Silent exm96593 1 151288698 [A/C] NM_001198773,NM_001330721,NM_002651,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB,PI4KB EXON Missense_I87S,Missense_I87S,Missense_I99S,Missense_I87S,Silent exm96603 1 151288780 [T/G] NM_001198773,NM_001330721,NM_002651,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB,PI4KB EXON Missense_K60Q,Missense_K60Q,Missense_K72Q,Missense_K60Q,Silent exm96605 1 151288857 [A/G] NM_001198773,NM_001330721,NM_002651,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB,PI4KB EXON Missense_T34M,Missense_T34M,Missense_T46M,Missense_T34M,Silent exm96607 1 151288896 [C/G] NM_001198773,NM_001330721,NM_002651,NM_001198774,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB,PI4KB EXON Missense_P21R,Missense_P21R,Missense_P33R,Missense_P21R,Silent indel.6518 1 151314666 [D/I] NM_000449,NM_001025603 RFX5,RFX5 EXON exm96616 1 151314683 [G/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_D610E,Missense_D610E exm96622 1 151314825 [A/G] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_S563L,Missense_S563L exm96626 1 151314874 [T/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_G547S,Missense_G547S exm96628 1 151315018 [A/G] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_P499S,Missense_P499S newrs79106593 1 151315105 [A/G] NM_000449,NM_001025603 RFX5,RFX5 EXON Nonsense_R470X,Nonsense_R470X exm96633 1 151315134 [T/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_S460N,Missense_S460N exm96637 1 151315287 [G/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_P409R,Missense_P409R exm96641 1 151315354 [T/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_T387A,Missense_T387A exm96647 1 151315474 [A/G] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_S347P,Missense_S347P exm96655 1 151315621 [T/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_G298S,Missense_G298S exm2231176 1 151315891 [T/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_R262Q,Missense_R262Q exm96669 1 151316324 [T/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_R197Q,Missense_R197Q variant.6521 1 151316672 [T/C] NM_000449,NM_001025603 RFX5,RFX5 Silent,Silent variant.6522 1 151317324 [T/C] NM_000449,NM_001025603 RFX5,RFX5 Silent,Silent variant.6523 1 151318686 [T/G] NM_000449,NM_001025603 RFX5,RFX5 EXON Synonymous_T37T,Synonymous_T37T exm96693 1 151318733 [T/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_A22T,Missense_A22T exm96697 1 151318757 [T/C] NM_000449,NM_001025603 RFX5,RFX5 EXON Missense_G14R,Missense_G14R rs2769273 1 151327376 [T/C] exm96701 1 151337060 [A/G] NM_001258289,NM_003944,NM_001258288 SELENBP1,SELENBP1,SELENBP1 EXON Missense_R502C,Missense_R460C,Missense_R398C exm96711 1 151337690 [G/C] NM_001258289,NM_003944,NM_001258288 SELENBP1,SELENBP1,SELENBP1 EXON Missense_S413C,Missense_S371C,Missense_S309C exm96713 1 151337703 [T/C] NM_001258289,NM_003944,NM_001258288 SELENBP1,SELENBP1,SELENBP1 EXON Missense_E409K,Missense_E367K,Missense_E305K exm1714092 1 151338149 [T/C] NM_001258289,NM_003944,NM_001258288 SELENBP1,SELENBP1,SELENBP1 EXON Missense_D354N,Missense_D312N,Missense_D250N newrs143408960 1 151338243 [T/C] NM_001258289,NM_003944,NM_001258288 SELENBP1,SELENBP1,SELENBP1 Silent,Silent,Silent exm96724 1 151338753 [T/C] NM_001258289,NM_003944,NM_001258288 SELENBP1,SELENBP1,SELENBP1 EXON Missense_E323K,Missense_E281K,Missense_E219K exm96734 1 151339230 [T/C] NM_001258289,NM_003944,NM_001258288 SELENBP1,SELENBP1,SELENBP1 EXON Missense_R253Q,Missense_R211Q,Missense_R149Q exm96735 1 151339231 [A/G] NM_001258289,NM_003944,NM_001258288 SELENBP1,SELENBP1,SELENBP1 EXON Nonsense_R253X,Nonsense_R211X,Nonsense_R149X exm96737 1 151339278 [T/C] NM_001258289,NM_003944,NM_001258288 SELENBP1,SELENBP1,SELENBP1 EXON Missense_R237Q,Missense_R195Q,Missense_R133Q exm2249931 1 151339307 [T/C] NM_001258289,NM_003944,NM_001258288 SELENBP1,SELENBP1,SELENBP1 EXON Synonymous_P227P,Synonymous_P185P,Synonymous_P123P exm96740 1 151339348 [T/C] NM_001258289,NM_003944,NM_001258288 SELENBP1,SELENBP1,SELENBP1 EXON Missense_E214K,Missense_E172K,Missense_E110K variant.6529 1 151340675 [T/C] NM_001258289,NM_003944,NM_001258288 SELENBP1,SELENBP1,SELENBP1 EXON Missense_G203R,Missense_G161R,Missense_G99R exm96745 1 151340680 [C/G] NM_001258289,NM_003944,NM_001258288 SELENBP1,SELENBP1,SELENBP1 EXON Missense_G201A,Missense_G159A,Missense_G97A exm96751 1 151340762 [T/C] NM_001258289,NM_003944,NM_001258288 SELENBP1,SELENBP1,SELENBP1 EXON Missense_E174K,Missense_E132K,Missense_E70K exm96754 1 151341499 [T/C] NM_001258289,NM_003944,NM_001258288 SELENBP1,SELENBP1,SELENBP1 EXON Missense_R156Q,Missense_R114Q,Silent rs2769265 1 151344150 [A/C] NM_001258289,NM_003944,NM_001258288 SELENBP1,SELENBP1,SELENBP1 Silent,Silent,Silent rs12741361 1 151346333 [A/G] rs6704126 1 151371305 [T/G] rs2296840 1 151372047 [T/C] NM_002796 PSMB4 EXON Silent exm1714112 1 151372065 [T/C] NM_002796 PSMB4 EXON Missense_M1T exm96822 1 151374025 [T/C] NM_002796 PSMB4 EXON Missense_I234T exm96846 1 151377422 [A/C] NM_145796,NM_015100,NM_001194937,NM_001194938,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_H1268Q,Missense_H1363Q,Missense_H1354Q,Missense_H1301Q,Missense_H1310Q exm96851 1 151377648 [A/G] NM_145796,NM_015100,NM_001194937,NM_001194938,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_A1193V,Missense_A1288V,Missense_A1279V,Missense_A1226V,Missense_A1235V exm96859 1 151377952 [A/G] NM_145796,NM_015100,NM_001194937,NM_001194938,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_P1092S,Missense_P1187S,Missense_P1178S,Missense_P1125S,Missense_P1134S exm96887 1 151378842 [A/G] NM_145796,NM_015100,NM_001194937,NM_001194938,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_A795V,Missense_A890V,Missense_A881V,Missense_A828V,Missense_A837V exm96891 1 151379094 [T/C] NM_145796,NM_015100,NM_001194937,NM_001194938,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_I758M,Missense_I853M,Missense_I844M,Missense_I791M,Missense_I800M rs6587572 1 151386465 [A/C] NM_145796,NM_015100,NM_001194937,NM_001194938,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ Silent,Silent,Silent,Silent,Silent exm96927 1 151396443 [T/C] NM_145796,NM_015100,NM_001194937,NM_001194938,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_R407K,Missense_R502K,Missense_R493K,Missense_R440K,Missense_R449K exm96935 1 151397526 [T/C] NM_145796,NM_015100,NM_001194937,NM_001194938,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_I269V,Missense_I364V,Missense_I355V,Missense_I302V,Missense_I311V variant.6534 1 151400298 [T/C] NM_145796,NM_015100,NM_001194937,NM_001194938,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ Silent,Silent,Silent,Silent,Silent exm96940 1 151400349 [T/C] NM_145796,NM_015100,NM_001194937,NM_001194938,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_S248N,Missense_S343N,Missense_S334N,Missense_S281N,Missense_S290N exm96945 1 151400506 [A/G] NM_145796,NM_015100,NM_001194937,NM_001194938,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_P196S,Missense_P291S,Silent,Silent,Missense_P238S exm96965 1 151403194 [T/C] NM_145796,NM_015100,NM_001194937,NM_001194938,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Silent,Missense_N136S,Missense_N136S,Missense_N83S,Missense_N83S rs11578888 1 151407693 [A/G] NM_145796,NM_015100,NM_001194937,NM_001194938,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ Silent,Silent,Silent,Silent,Silent exm96976 1 151414577 [A/G] NM_145796,NM_015100,NM_001194937,NM_001194938,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_S35L,Missense_S35L,Missense_S35L,Missense_S35L,Missense_S35L exm96977 1 151414611 [T/C] NM_145796,NM_015100,NM_001194937,NM_001194938,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_V24I,Missense_V24I,Missense_V24I,Missense_V24I,Missense_V24I rs11204828 1 151458193 [T/C] rs2878950 1 151464911 [T/C] exm2259806 1 151468060 [T/G] exm-rs1547832 1 151477193 [T/C] rs7552458 1 151488782 [T/G] NM_020770 CGN Silent exm96981 1 151491026 [T/C] NM_020770 CGN EXON Missense_R11W exm96982 1 151491027 [A/G] NM_020770 CGN EXON Missense_R11Q exm96983 1 151491029 [A/G] NM_020770 CGN EXON Missense_G12S exm96989 1 151491101 [T/C] NM_020770 CGN EXON Missense_R36C exm97000 1 151491318 [T/G] NM_020770 CGN EXON Missense_V108G exm1714216 1 151491411 [T/C] NM_020770 CGN EXON Missense_A139V exm97012 1 151491581 [T/C] NM_020770 CGN EXON Missense_R196W exm97019 1 151491674 [T/C] NM_020770 CGN EXON Missense_R227W exm97021 1 151491680 [T/C] NM_020770 CGN EXON Missense_R229C indel.6536 1 151491695 [I/D] NM_020770 CGN EXON exm97023 1 151491788 [T/C] NM_020770 CGN EXON Missense_R265C exm97027 1 151491836 [T/C] NM_020770 CGN EXON Missense_R281W exm97032 1 151492700 [T/C] NM_020770 CGN EXON Missense_V311A exm97036 1 151492912 [A/G] NM_020770 CGN EXON Missense_V333M exm1714233 1 151493096 [C/G] NM_020770 CGN EXON Missense_A357P exm97045 1 151495950 [A/G] NM_020770 CGN EXON Missense_R394Q exm97048 1 151496009 [A/C] NM_020770 CGN EXON Missense_K414Q exm2231183 1 151496012 [C/G] NM_020770 CGN EXON Missense_G415R exm97050 1 151496718 [T/C] NM_020770 CGN EXON Missense_R429C variant.6540 1 151496745 [T/C] NM_020770 CGN EXON Nonsense_R438X indel.6541 1 151496831 [D/I] NM_020770 CGN EXON exm97057 1 151497202 [A/G] NM_020770 CGN EXON Missense_R485Q exm97069 1 151498143 [A/G] NM_020770 CGN EXON Missense_R547K exm97075 1 151499468 [T/C] NM_020770 CGN EXON Missense_M594T exm97077 1 151499510 [A/G] NM_020770 CGN EXON Missense_E608G exm97078 1 151499539 [T/C] NM_020770 CGN EXON Nonsense_R618X newrs140334393 1 151499539 [T/C] NM_020770 CGN EXON Nonsense_R618X exm97083 1 151499584 [T/G] NM_020770 CGN Silent exm97086 1 151501841 [C/G] NM_020770 CGN EXON Missense_Q638E exm97088 1 151501872 [A/G] NM_020770 CGN EXON Missense_R648Q exm2231184 1 151501901 [C/G] NM_020770 CGN EXON Missense_R658G exm97094 1 151501908 [A/G] NM_020770 CGN EXON Missense_R660Q exm97100 1 151501968 [A/G] NM_020770 CGN EXON Missense_E680G exm1714258 1 151502400 [A/G] NM_020770 CGN EXON Missense_E708K exm97106 1 151502427 [T/C] NM_020770 CGN EXON Missense_R717W exm97107 1 151502430 [T/C] NM_020770 CGN EXON Missense_R718W exm97114 1 151502487 [T/C] NM_020770 CGN EXON Missense_R737W exm97117 1 151502547 [G/C] NM_020770 CGN EXON Missense_E757Q exm97119 1 151502568 [T/C] NM_020770 CGN EXON Missense_R764W exm97121 1 151502589 [A/G] NM_020770 CGN EXON Missense_E771K exm97122 1 151502966 [G/C] NM_020770 CGN EXON Missense_A772G exm97123 1 151502978 [A/G] NM_020770 CGN EXON Missense_Q776R exm1714265 1 151503038 [A/G] NM_020770 CGN EXON Missense_R796Q exm97129 1 151503053 [A/G] NM_020770 CGN EXON Missense_R801H exm97130 1 151503071 [A/G] NM_020770 CGN EXON Missense_R807Q exm97139 1 151503208 [T/C] NM_020770 CGN EXON Nonsense_R853X rs6673116 1 151504778 [T/C] NM_020770 CGN Silent variant.6548 1 151504876 [A/G] NM_020770 CGN Silent exm97142 1 151504890 [A/G] NM_020770 CGN EXON Missense_G862R exm97145 1 151504956 [T/C] NM_020770 CGN EXON Missense_R884W exm97148 1 151505035 [A/G] NM_020770 CGN EXON Missense_R910Q exm97155 1 151506526 [A/G] NM_020770 CGN EXON Missense_A940T exm97161 1 151507531 [A/G] NM_020770 CGN EXON Missense_R973Q exm97176 1 151508290 [A/G] NM_020770 CGN EXON Missense_E1038G exm97181 1 151508720 [A/G] NM_020770 CGN EXON Missense_T1069A exm97182 1 151508741 [T/C] NM_020770 CGN EXON Nonsense_R1076X newrs142499650 1 151508741 [T/C] NM_020770 CGN EXON Nonsense_R1076X exm97191 1 151509266 [T/C] NM_020770 CGN EXON Nonsense_R1123X exm97196 1 151509682 [T/C] NM_020770 CGN EXON Missense_R1158C exm97198 1 151509694 [T/C] NM_020770 CGN EXON Missense_R1162C exm97199 1 151509719 [A/G] NM_020770 CGN EXON Missense_K1170R exm1714281 1 151509754 [A/G] NM_020770 CGN EXON Missense_S1182G rs1418823 1 151510026 [A/G] NM_020770 CGN EXON Silent exm97214 1 151512879 [G/C] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Missense_V13L,Missense_V13L,Silent exm97215 1 151512895 [A/G] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Missense_Q18R,Missense_Q18R,Silent rs2337360 1 151514603 [A/G] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 Silent,Silent,Silent rs17640598 1 151524275 [A/G] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 Silent,Silent,Silent exm97220 1 151534573 [A/G] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Silent,Missense_V23M,Missense_V42M exm97222 1 151534633 [C/G] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Silent,Missense_A43P,Missense_A62P exm97224 1 151535062 [T/C] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Missense_A21V,Missense_A46V,Missense_A65V exm1714317 1 151535130 [A/G] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Missense_E44K,Missense_E69K,Missense_E88K exm97228 1 151537025 [T/C] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Missense_R92W,Missense_R117W,Missense_R136W exm97236 1 151538661 [A/G] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Missense_G121D,Missense_G146D,Missense_G165D exm97240 1 151542140 [T/C] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Missense_T138I,Missense_T163I,Missense_T182I exm97243 1 151542170 [C/G] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Missense_R148T,Missense_R173T,Missense_R192T exm97244 1 151542176 [T/C] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Missense_T150M,Missense_T175M,Missense_T194M exm97245 1 151542198 [T/G] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Missense_K157N,Missense_K182N,Missense_K201N exm97247 1 151542215 [A/G] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Missense_R163Q,Missense_R188Q,Missense_R207Q variant.6557 1 151546779 [T/C] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Nonsense_Q185X,Nonsense_Q210X,Nonsense_Q229X exm97253 1 151546816 [T/C] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Missense_V197A,Missense_V222A,Missense_V241A exm97254 1 151546855 [A/G] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Missense_R210H,Missense_R235H,Missense_R254H exm97260 1 151551265 [A/G] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Missense_K271R,Missense_K296R,Missense_K315R exm1714336 1 151552139 [A/C] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Missense_K288N,Missense_K313N,Missense_K332N variant.6559 1 151553487 [T/C] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Nonsense_Q335X,Nonsense_Q360X,Nonsense_Q379X exm97268 1 151554137 [T/C] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Missense_P351L,Missense_P376L,Missense_P395L exm97271 1 151554166 [T/C] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Nonsense_R361X,Nonsense_R386X,Nonsense_R405X rs1891592 1 151554503 [T/C] NM_001126337,NM_020127,NM_001301317 TUFT1,TUFT1,TUFT1 EXON Silent,Silent,Silent rs1970568 1 151575756 [A/G] rs1196360 1 151579662 [A/C] rs1196350 1 151599267 [T/G] NM_030918,NM_001330723 SNX27,SNX27 Silent,Silent rs1196351 1 151600441 [A/G] NM_030918,NM_001330723 SNX27,SNX27 Silent,Silent rs6702842 1 151608096 [A/G] NM_030918,NM_001330723 SNX27,SNX27 Silent,Silent rs6690942 1 151629958 [A/G] NM_030918,NM_001330723 SNX27,SNX27 Silent,Silent exm1714351 1 151633309 [A/G] NM_030918,NM_001330723 SNX27,SNX27 EXON Missense_M258V,Missense_M258V exm97290 1 151634663 [A/G] NM_030918,NM_001330723 SNX27,SNX27 EXON Missense_V275I,Missense_V275I exm97293 1 151638416 [T/C] NM_030918,NM_001330723 SNX27,SNX27 EXON Missense_A305V,Missense_A305V exm97295 1 151638469 [A/G] NM_030918,NM_001330723 SNX27,SNX27 EXON Missense_V323M,Missense_V323M exm97296 1 151638486 [T/C] NM_030918,NM_001330723 SNX27,SNX27 EXON Synonymous_F328F,Synonymous_F328F exm97300 1 151655838 [G/C] NM_030918,NM_001330723 SNX27,SNX27 EXON Missense_D386H,Missense_D386H exm97309 1 151665424 [T/G] NM_030918,NM_001330723 SNX27,SNX27 EXON Missense_R476L,Missense_R476L exm97310 1 151665435 [G/C] NM_030918,NM_001330723 SNX27,SNX27 EXON Missense_D480H,Missense_D480H rs1308137 1 151668295 [A/C] NM_030918,NM_001330723 SNX27,SNX27 EXON Silent,Silent exm2249934 1 151669442 [T/C] NM_030918,NM_001330723 SNX27,SNX27 EXON Silent,Silent rs1048694 1 151669997 [A/C] NM_030918,NM_001330723 SNX27,SNX27 EXON Silent,Silent exm97349 1 151679660 [A/G] NM_001291107,NM_001172648,NM_001291106,NM_007185,NM_001172649 CELF3,CELF3,CELF3,CELF3,CELF3 EXON Missense_P294S,Missense_P248S,Missense_P295S,Missense_P295S,Silent exm97352 1 151679708 [T/C] NM_001291107,NM_001172648,NM_001291106,NM_007185,NM_001172649 CELF3,CELF3,CELF3,CELF3,CELF3 EXON Missense_V278I,Missense_V232I,Missense_V279I,Missense_V279I,Silent exm97365 1 151681524 [T/C] NM_001291107,NM_001172648,NM_001291106,NM_007185,NM_001172649 CELF3,CELF3,CELF3,CELF3,CELF3 EXON Missense_A145T,Missense_A99T,Missense_A146T,Missense_A146T,Missense_A146T exm97367 1 151681552 [A/G] NM_001291107,NM_001172648,NM_001291106,NM_007185,NM_001172649 CELF3,CELF3,CELF3,CELF3,CELF3 EXON Synonymous_G135G,Synonymous_G89G,Synonymous_G136G,Synonymous_G136G,Synonymous_G136G exm97386 1 151694626 [A/G] NM_001144956 RIIAD1 EXON Missense_S50N rs2298294 1 151701345 [A/G] NM_001144956 RIIAD1 EXON Silent rs2096402 1 151705137 [A/G] rs1781417 1 151707765 [A/G] rs11204880 1 151728756 [T/C] exm97397 1 151732552 [T/C] NR_125331,NM_031420,NM_001300733 MRPL9,MRPL9,MRPL9 EXON Silent,Missense_M260V,Missense_M226V variant.6566 1 151733292 [T/C] NR_125331,NM_031420,NM_001300733 MRPL9,MRPL9,MRPL9 EXON Silent,Synonymous_T224T,Synonymous_T190T exm97404 1 151733293 [A/G] NR_125331,NM_031420,NM_001300733 MRPL9,MRPL9,MRPL9 EXON Silent,Missense_T224M,Missense_T190M exm97407 1 151733327 [T/C] NR_125331,NM_031420,NM_001300733 MRPL9,MRPL9,MRPL9 EXON Silent,Missense_I213V,Missense_I179V exm97408 1 151733335 [T/G] NR_125331,NM_031420,NM_001300733 MRPL9,MRPL9,MRPL9 EXON Silent,Missense_E210A,Missense_E176A exm2231190 1 151734581 [T/C] NR_125331,NM_031420,NM_001300733 MRPL9,MRPL9,MRPL9 EXON Silent,Synonymous_A162A,Synonymous_A162A indel.6567 1 151734623 [I/D] NR_125331,NM_031420,NM_001300733 MRPL9,MRPL9,MRPL9 EXON variant.6568 1 151734911 [A/G] NR_125331,NM_031420,NM_001300733 MRPL9,MRPL9,MRPL9 EXON Silent,Nonsense_Q126X,Nonsense_Q126X exm97426 1 151734961 [T/C] NR_125331,NM_031420,NM_001300733 MRPL9,MRPL9,MRPL9 EXON Silent,Missense_G109D,Missense_G109D exm97433 1 151735493 [T/C] NR_125331,NM_031420,NM_001300733,NM_001134939 MRPL9,MRPL9,MRPL9,OAZ3 EXON Silent,Missense_E95K,Missense_E95K,Silent exm97437 1 151735576 [T/C] NR_125331,NM_031420,NM_001300733,NM_001134939 MRPL9,MRPL9,MRPL9,OAZ3 EXON Silent,Missense_E67G,Missense_E67G,Silent exm97438 1 151735594 [T/A] NR_125331,NM_031420,NM_001300733,NM_001134939 MRPL9,MRPL9,MRPL9,OAZ3 EXON Silent,Missense_K61M,Missense_K61M,Silent exm97443 1 151735913 [A/G] NR_125331,NM_031420,NM_001300733,NM_001134939 MRPL9,MRPL9,MRPL9,OAZ3 EXON Silent,Missense_R15W,Missense_R15W,Silent indel.6571 1 151739222 [I/D] NM_001134939,NM_001301371,NM_016178 OAZ3,OAZ3,OAZ3 EXON exm97447 1 151739333 [T/C] NM_001134939,NM_001301371,NM_016178 OAZ3,OAZ3,OAZ3 EXON Silent,Silent,Missense_R46W exm97451 1 151739679 [A/C] NM_001134939,NM_001301371,NM_016178 OAZ3,OAZ3,OAZ3 EXON Missense_R25S,Missense_R38S,Missense_R70S exm1714412 1 151740560 [T/C] NM_001134939,NM_001301371,NM_016178 OAZ3,OAZ3,OAZ3 EXON Missense_X66R,Missense_X79R,Missense_X111R variant.6578 1 151740657 [T/C] NM_001134939,NM_001301371,NM_016178 OAZ3,OAZ3,OAZ3 EXON Missense_S98L,Missense_S111L,Missense_S143L exm97458 1 151740666 [T/C] NM_001134939,NM_001301371,NM_016178 OAZ3,OAZ3,OAZ3 EXON Missense_L101P,Missense_L114P,Missense_L146P indel.6579 1 151742679 [I/D] NM_001134939,NM_001301371,NM_016178 OAZ3,OAZ3,OAZ3 EXON indel.6580 1 151742698 [I/D] NM_001134939,NM_001301371,NM_016178 OAZ3,OAZ3,OAZ3 EXON indel.6581 1 151742724 [I/D] NM_001134939,NM_001301371,NM_016178 OAZ3,OAZ3,OAZ3 EXON exm1714417 1 151742726 [A/C] NM_001134939,NM_001301371,NM_016178 OAZ3,OAZ3,OAZ3 EXON Synonymous_R142R,Synonymous_R155R,Synonymous_R187R rs2495396 1 151744928 [T/C] NM_006862 TDRKH Silent exm97475 1 151747558 [T/C] NM_006862,NM_001083963,NM_001083964,NM_001083965 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_D507N,Missense_D507N,Missense_D462N,Missense_D507N rs11204885 1 151747970 [A/G] NM_006862,NM_001083963,NM_001083964,NM_001083965 TDRKH,TDRKH,TDRKH,TDRKH EXON Synonymous_H444H,Synonymous_H444H,Synonymous_H399H,Synonymous_H444H exm97482 1 151748021 [A/T] NM_006862,NM_001083963,NM_001083964,NM_001083965 TDRKH,TDRKH,TDRKH,TDRKH Silent,Silent,Silent,Silent exm97485 1 151748578 [A/G] NM_006862,NM_001083963,NM_001083964,NM_001083965 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_A404V,Missense_A404V,Missense_A359V,Missense_A404V exm97486 1 151748579 [A/C] NM_006862,NM_001083963,NM_001083964,NM_001083965 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_A404S,Missense_A404S,Missense_A359S,Missense_A404S exm97487 1 151748660 [T/C] NM_006862,NM_001083963,NM_001083964,NM_001083965 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_G377S,Missense_G377S,Missense_G332S,Missense_G377S exm97489 1 151748669 [A/G] NM_006862,NM_001083963,NM_001083964,NM_001083965 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_R374W,Missense_R374W,Missense_R329W,Missense_R374W exm97490 1 151748733 [G/C] NM_006862,NM_001083963,NM_001083964,NM_001083965 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_L352F,Missense_L352F,Missense_L307F,Missense_L352F exm97491 1 151748920 [T/G] NM_006862,NM_001083963,NM_001083964,NM_001083965 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_S347R,Missense_S347R,Missense_S302R,Missense_S347R exm97493 1 151748992 [T/C] NM_006862,NM_001083963,NM_001083964,NM_001083965 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_I323V,Missense_I323V,Missense_I278V,Missense_I323V exm97499 1 151751266 [T/C] NM_006862,NM_001083963,NM_001083964,NM_001083965 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_D260N,Missense_D260N,Missense_D215N,Missense_D260N exm97504 1 151751403 [T/C] NM_006862,NM_001083963,NM_001083964,NM_001083965 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_R214H,Missense_R214H,Missense_R169H,Missense_R214H exm97507 1 151751707 [T/C] NM_006862,NM_001083963,NM_001083964,NM_001083965 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_E145K,Missense_E145K,Silent,Missense_E145K exm1714442 1 151755395 [T/C] NM_006862,NM_001083963,NM_001083964,NM_001083965 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_R35H,Missense_R35H,Missense_R35H,Missense_R35H rs4845579 1 151770138 [T/C] rs12090995 1 151773160 [A/G] NM_001004432 LINGO4 EXON Silent rs12409493 1 151773167 [A/G] NM_001004432 LINGO4 EXON Silent exm97547 1 151773935 [A/G] NM_001004432 LINGO4 EXON Nonsense_R416X exm2273690 1 151774034 [C/G] NM_001004432 LINGO4 EXON Missense_P383A exm97554 1 151774063 [T/C] NM_001004432 LINGO4 EXON Missense_R373H exm97556 1 151774070 [A/G] NM_001004432 LINGO4 EXON Missense_R371W newrs149393439 1 151774172 [A/G] NM_001004432 LINGO4 EXON Nonsense_Q337X exm97568 1 151774300 [T/C] NM_001004432 LINGO4 EXON Missense_R294Q exm97569 1 151774318 [T/A] NM_001004432 LINGO4 EXON Missense_I288N exm97570 1 151774330 [A/G] NM_001004432 LINGO4 EXON Missense_S284F exm97576 1 151774444 [C/G] NM_001004432 LINGO4 EXON Missense_P246R exm97578 1 151774502 [T/G] NM_001004432 LINGO4 EXON Missense_L227M exm97580 1 151774507 [T/C] NM_001004432 LINGO4 EXON Missense_R225Q exm97585 1 151774616 [A/G] NM_001004432 LINGO4 EXON Missense_R189C exm2275478 1 151774693 [A/C] NM_001004432 LINGO4 EXON Missense_V163G exm97588 1 151774712 [T/C] NM_001004432 LINGO4 EXON Missense_S157G exm1714453 1 151774762 [T/C] NM_001004432 LINGO4 EXON Missense_R140H exm97589 1 151774795 [T/G] NM_001004432 LINGO4 EXON Nonsense_S129X exm97593 1 151774888 [T/G] NM_001004432 LINGO4 EXON Missense_T98N exm2273691 1 151774944 [T/C] NM_001004432 LINGO4 EXON Missense_M79I exm97613 1 151780028 [T/C] NM_001001523,NM_005060 RORC,RORC EXON Missense_V472M,Missense_V493M exm97614 1 151780099 [T/C] NM_001001523,NM_005060 RORC,RORC EXON Missense_K448R,Missense_K469R rs939595 1 151783688 [A/C] NM_001001523,NM_005060 RORC,RORC Silent,Silent exm97615 1 151783805 [C/G] NM_001001523,NM_005060 RORC,RORC EXON Missense_A443G,Missense_A464G exm97618 1 151783863 [T/C] NM_001001523,NM_005060 RORC,RORC EXON Missense_N424D,Missense_N445D exm97620 1 151783892 [T/C] NM_001001523,NM_005060 RORC,RORC EXON Missense_E414G,Missense_E435G variant.6596 1 151785423 [A/G] NM_001001523,NM_005060 RORC,RORC EXON Missense_H408Y,Missense_H429Y exm97621 1 151785424 [T/G] NM_001001523,NM_005060 RORC,RORC EXON Synonymous_A407A,Synonymous_A428A exm1714460 1 151785771 [T/C] NM_001001523,NM_005060 RORC,RORC EXON Missense_N352S,Missense_N373S exm97626 1 151785819 [A/G] NM_001001523,NM_005060 RORC,RORC EXON Missense_A336V,Missense_A357V exm97642 1 151787451 [T/C] NM_001001523,NM_005060 RORC,RORC EXON Missense_S229N,Missense_S250N exm97657 1 151789185 [A/G] NM_001001523,NM_005060 RORC,RORC EXON Missense_H64Y,Missense_H85Y rs7540530 1 151790858 [A/G] NM_001001523,NM_005060 RORC,RORC Silent,Silent rs949969 1 151792814 [A/G] NM_001001523,NM_005060 RORC,RORC Silent,Silent rs7546811 1 151792842 [A/G] NM_001001523,NM_005060 RORC,RORC Silent,Silent rs4845606 1 151801951 [A/G] NM_005060 RORC Silent exm97673 1 151804213 [A/G] NM_005060 RORC EXON Nonsense_R10X rs6587622 1 151814405 [A/G] NR_024237,NR_152846 LOC100132111,LOC100132111 EXON Silent,Silent rs7536659 1 151816718 [T/C] NR_024237,NR_152846 LOC100132111,LOC100132111 EXON Silent,Silent variant.6601 1 151820244 [T/C] NR_024237,NR_152846,NM_182578 LOC100132111,LOC100132111,THEM5 EXON Silent,Silent,Missense_D224N exm97690 1 151820298 [G/C] NR_024237,NR_152846,NM_182578 LOC100132111,LOC100132111,THEM5 EXON Silent,Silent,Missense_L206V exm97692 1 151820304 [T/C] NR_024237,NR_152846,NM_182578 LOC100132111,LOC100132111,THEM5 EXON Silent,Silent,Missense_V204I exm97693 1 151820324 [T/C] NR_024237,NR_152846,NM_182578 LOC100132111,LOC100132111,THEM5 EXON Silent,Silent,Missense_D197G rs6587625 1 151820324 [T/C] NR_024237,NR_152846,NM_182578 LOC100132111,LOC100132111,THEM5 EXON Silent,Silent,Missense_D197G exm97694 1 151820731 [T/C] NR_024237,NR_152846,NM_182578 LOC100132111,LOC100132111,THEM5 EXON Silent,Silent,Missense_E168K rs2279503 1 151824089 [T/C] NM_182578 THEM5 Silent exm97700 1 151824781 [T/C] NM_182578 THEM5 EXON Missense_D93G variant.6606 1 151824874 [T/C] NM_182578 THEM5 EXON Nonsense_W62X exm97705 1 151824895 [T/G] NM_182578 THEM5 EXON Missense_Y55S exm97708 1 151825920 [A/G] NM_182578 THEM5 EXON Missense_M41T rs6684312 1 151844650 [A/G] NM_053055 THEM4 EXON Silent rs6587627 1 151846059 [T/C] NM_053055 THEM4 EXON Silent exm97720 1 151849599 [A/G] NM_053055 THEM4 EXON Missense_P187L rs6685187 1 151858888 [A/G] NM_053055 THEM4 Silent exm97733 1 151861842 [G/C] NM_053055 THEM4 EXON Missense_K98N var_1_151861851 1 151861851 [T/C] NM_053055 THEM4 Silent exm97739 1 151867528 [T/C] NM_053055 THEM4 EXON Missense_R81H exm97750 1 151867651 [T/C] NM_053055 THEM4 EXON Missense_E40G exm97751 1 151867657 [G/C] NM_053055 THEM4 EXON Missense_S38C rs11204915 1 151882826 [T/C] rs4845713 1 151894887 [A/G] rs10788819 1 151895093 [T/C] exm-rs10788819 1 151895093 [T/C] rs6703448 1 151909453 [A/C] rs9943251 1 151917115 [A/G] rs2999508 1 151934447 [A/C] rs7541099 1 151938763 [T/C] rs6587639 1 151940536 [T/C] exm97756 1 151955753 [G/C] NM_002966 S100A10 EXON Missense_D60E newrs113230904 1 151955801 [T/C] NM_002966 S100A10 Silent variant.6612 1 151958595 [A/C] NM_002966 S100A10 EXON Nonsense_E38X exm97766 1 151958654 [T/C] NM_002966 S100A10 EXON Missense_K18R rs2999534 1 151976070 [T/C] rs6587641 1 151978039 [A/G] rs12134184 1 152004435 [T/C] exm97779 1 152005257 [T/G] NM_005620 S100A11 EXON Missense_L67M exm97782 1 152006171 [T/C] NM_005620 S100A11 EXON Missense_T37A exm97790 1 152006266 [A/G] NM_005620 S100A11 EXON Missense_S5F exm97792 1 152009387 [A/G] NM_005620 S100A11 Silent rs6680866 1 152022989 [A/G] rs4333848 1 152028561 [A/C] exm-rs3124314 1 152037515 [T/C] exm97798 1 152057472 [A/G] NM_001008536 TCHHL1 EXON Nonsense_Q896X indel.6616 1 152057670 [I/D] NM_001008536 TCHHL1 EXON exm97809 1 152057793 [A/G] NM_001008536 TCHHL1 EXON Missense_C789R exm1714541 1 152057852 [T/C] NM_001008536 TCHHL1 EXON Missense_H769R exm97822 1 152058182 [T/G] NM_001008536 TCHHL1 EXON Missense_T659K exm97823 1 152058192 [A/G] NM_001008536 TCHHL1 EXON Nonsense_Q656X exm97826 1 152058269 [T/C] NM_001008536 TCHHL1 EXON Missense_R630K exm97834 1 152058563 [T/C] NM_001008536 TCHHL1 EXON Missense_G532E exm1714549 1 152058590 [T/G] NM_001008536 TCHHL1 EXON Missense_P523Q exm97839 1 152058767 [A/G] NM_001008536 TCHHL1 EXON Missense_V464A indel.6619 1 152058844 [I/D] NM_001008536 TCHHL1 EXON indel.6620 1 152058849 [D/I] NM_001008536 TCHHL1 EXON indel.6621 1 152058992 [D/I] NM_001008536 TCHHL1 EXON exm97856 1 152059046 [T/G] NM_001008536 TCHHL1 EXON Missense_D371A exm97861 1 152059278 [A/G] NM_001008536 TCHHL1 EXON Nonsense_Q294X exm97865 1 152059319 [A/G] NM_001008536 TCHHL1 EXON Missense_T280I exm97866 1 152059329 [T/C] NM_001008536 TCHHL1 EXON Missense_E277K indel.6623 1 152059458 [D/I] NM_001008536 TCHHL1 EXON exm97869 1 152059461 [T/G] NM_001008536 TCHHL1 EXON Missense_Q233K indel.6624 1 152059508 [I/D] NM_001008536 TCHHL1 EXON exm97876 1 152059580 [C/G] NM_001008536 TCHHL1 EXON Missense_A193G exm97879 1 152059659 [A/T] NM_001008536 TCHHL1 EXON Missense_N167Y exm97886 1 152059779 [A/G] NM_001008536 TCHHL1 EXON Missense_P127S exm97895 1 152060492 [T/C] NM_001008536 TCHHL1 EXON Missense_D43G exm97896 1 152060495 [T/C] NM_001008536 TCHHL1 EXON Missense_G42E rs17646946 1 152062767 [A/G] exm-rs17646946 1 152062767 [A/G] exm97908 1 152079989 [T/G] NM_007113 TCHH EXON Missense_K1902Q rs1131471 1 152079989 [T/G] NM_007113 TCHH EXON Missense_K1902Q exm97911 1 152080033 [C/G] NM_007113 TCHH EXON Missense_R1887P exm97913 1 152080066 [T/C] NM_007113 TCHH EXON Missense_R1876Q exm97914 1 152080105 [T/G] NM_007113 TCHH EXON Missense_E1863A exm97917 1 152080129 [T/G] NM_007113 TCHH EXON Missense_E1855A exm97920 1 152080173 [G/C] NM_007113 TCHH EXON Missense_E1840D exm97934 1 152080426 [C/G] NM_007113 TCHH EXON Missense_R1756P exm97940 1 152080512 [A/C] NM_007113 TCHH EXON Missense_E1727D exm97945 1 152080550 [T/G] NM_007113 TCHH EXON Missense_Q1715K exm97954 1 152080604 [C/G] NM_007113 TCHH EXON Missense_E1697Q exm97959 1 152080820 [C/G] NM_007113 TCHH EXON Missense_E1625Q exm1714575 1 152081071 [T/C] NM_007113 TCHH EXON Missense_R1541H exm97987 1 152081108 [A/G] NM_007113 TCHH EXON Missense_R1529W exm97989 1 152081116 [C/G] NM_007113 TCHH EXON Missense_R1526P exm97990 1 152081138 [T/C] NM_007113 TCHH EXON Missense_E1519K exm97997 1 152081201 [T/C] NM_007113 TCHH EXON Missense_E1498K exm98022 1 152081543 [T/G] NM_007113 TCHH EXON Missense_R1384S exm98023 1 152081549 [A/G] NM_007113 TCHH EXON Missense_R1382W exm98028 1 152081623 [T/C] NM_007113 TCHH EXON Missense_E1357G var_1_152081684 1 152081685 [D/I] NM_007113 TCHH EXON exm98036 1 152081701 [C/G] NM_007113 TCHH EXON Missense_R1331P indel.6631 1 152081706 [I/D] NM_007113 TCHH EXON exm98042 1 152081825 [C/G] NM_007113 TCHH EXON Missense_D1290H exm98048 1 152081921 [C/G] NM_007113 TCHH EXON Missense_L1258V exm98052 1 152082068 [T/C] NM_007113 TCHH EXON Missense_K1209E exm2275479 1 152082095 [A/G] NM_007113 TCHH EXON Missense_R1200W exm2276995 1 152082109 [A/C] NM_007113 TCHH EXON Missense_R1195L exm2249936 1 152082606 [T/C] NM_007113 TCHH EXON Synonymous_E1029E exm98116 1 152082761 [A/G] NM_007113 TCHH EXON Missense_P978S exm98126 1 152082957 [G/C] NM_007113 TCHH EXON Missense_E912D exm98145 1 152083235 [A/G] NM_007113 TCHH EXON Missense_R820W exm98147 1 152083247 [T/C] NM_007113 TCHH EXON Missense_E816K exm98149 1 152083325 [A/T] NM_007113 TCHH EXON Missense_L790M exm98151 1 152083372 [T/C] NM_007113 TCHH EXON Missense_E774G exm98156 1 152083457 [C/G] NM_007113 TCHH EXON Missense_L746V exm98164 1 152083612 [C/G] NM_007113 TCHH EXON Missense_R694P exm98167 1 152083641 [G/C] NM_007113 TCHH EXON Missense_E684D exm98183 1 152083816 [T/C] NM_007113 TCHH EXON Missense_E626G exm98204 1 152084080 [A/G] NM_007113 TCHH EXON Missense_L538P exm98269 1 152084922 [T/G] NM_007113 TCHH EXON Missense_E257D exm98271 1 152084950 [T/C] NM_007113 TCHH EXON Missense_K248R exm98272 1 152084984 [C/G] NM_007113 TCHH EXON Missense_V237L exm2231212 1 152085029 [T/C] NM_007113 TCHH EXON Missense_G222S exm2231213 1 152085034 [G/C] NM_007113 TCHH EXON Missense_R220T exm1714607 1 152085253 [T/G] NM_007113 TCHH EXON Missense_E147A 1KG_1_152085296 1 152085296 [I/D] NM_007113 TCHH EXON exm98286 1 152085307 [A/G] NM_007113 TCHH EXON Missense_L129P indel.6647 1 152085458 [I/D] NM_007113 TCHH EXON exm98293 1 152085505 [A/C] NM_007113 TCHH EXON Missense_L63R variant.6648 1 152086418 [T/C] NM_007113 TCHH Silent exm98295 1 152086420 [T/C] NM_007113 TCHH EXON Missense_R46Q variant.6650 1 152127306 [A/G] NM_001122965 RPTN EXON Nonsense_R757X exm98310 1 152127348 [A/G] NM_001122965 RPTN EXON Nonsense_R743X exm98318 1 152127455 [T/C] NM_001122965 RPTN EXON Missense_E707G variant.6652 1 152127573 [A/G] NM_001122965 RPTN EXON Nonsense_Q668X exm98321 1 152127663 [A/G] NM_001122965 RPTN EXON Missense_S638P var_1_152127741 1 152127741 [A/G] NM_001122965 RPTN EXON Nonsense_Q612X var_1_152127748 1 152127748 [A/C] NM_001122965 RPTN EXON Nonsense_Y609X exm98323 1 152127777 [A/C] NM_001122965 RPTN EXON Missense_G600W exm98329 1 152127961 [T/C] NM_001122965 RPTN EXON Missense_M538I exm98335 1 152128121 [A/G] NM_001122965 RPTN EXON Missense_S485F exm98338 1 152128139 [T/G] NM_001122965 RPTN EXON Missense_D479A exm2231219 1 152128178 [A/G] NM_001122965 RPTN EXON Missense_T466I exm2231220 1 152128182 [T/G] NM_001122965 RPTN EXON Missense_Q465K exm2231221 1 152128208 [T/C] NM_001122965 RPTN EXON Missense_R456K exm1714626 1 152128215 [T/G] NM_001122965 RPTN EXON Missense_T454P exm1714630 1 152128346 [T/C] NM_001122965 RPTN EXON Missense_G410D exm98357 1 152128401 [T/C] NM_001122965 RPTN EXON Missense_G392S variant.6657 1 152128416 [A/G] NM_001122965 RPTN EXON Nonsense_Q387X exm98360 1 152128422 [C/G] NM_001122965 RPTN EXON Missense_Q385E exm1714631 1 152128563 [A/C] NM_001122965 RPTN EXON Missense_G338C exm98371 1 152128617 [T/C] NM_001122965 RPTN EXON Missense_S320G exm98377 1 152128689 [T/C] NM_001122965 RPTN EXON Missense_G296S exm98382 1 152128790 [T/G] NM_001122965 RPTN EXON Missense_T262K exm98385 1 152128886 [T/C] NM_001122965 RPTN EXON Missense_R230Q exm98389 1 152128983 [A/C] NM_001122965 RPTN EXON Nonsense_E198X exm98395 1 152129087 [T/C] NM_001122965 RPTN EXON Missense_K163R exm98396 1 152129094 [A/G] NM_001122965 RPTN EXON Missense_S161P exm98411 1 152129260 [A/C] NM_001122965 RPTN EXON Missense_Q105H exm98416 1 152129381 [T/C] NM_001122965 RPTN EXON Missense_R65Q exm98417 1 152129405 [T/A] NM_001122965 RPTN EXON Missense_I57N exm98418 1 152129425 [T/G] NM_001122965 RPTN EXON Missense_D50E exm2264904 1 152141674 [A/G] rs969359 1 152144260 [T/C] rs16833876 1 152152329 [T/G] rs12130219 1 152162106 [A/G] rs1552991 1 152165878 [T/C] rs4845741 1 152183474 [A/G] rs4845423 1 152184950 [T/G] NM_001009931 HRNR EXON Silent variant.6659 1 152185575 [A/G] NM_001009931 HRNR EXON Nonsense_Q2844X exm98431 1 152185628 [T/G] NM_001009931 HRNR EXON Nonsense_S2826X exm98434 1 152185641 [A/C] NM_001009931 HRNR EXON Nonsense_G2822X exm98438 1 152185646 [A/T] NM_001009931 HRNR EXON Missense_D2820V exm98439 1 152185649 [T/C] NM_001009931 HRNR EXON Missense_H2819R exm98440 1 152185661 [T/C] NM_001009931 HRNR EXON Missense_G2815E exm98795 1 152191007 [T/C] NM_001009931 HRNR EXON Nonsense_W1033X exm98797 1 152191022 [T/C] NM_001009931 HRNR EXON Missense_R1028K exm98828 1 152191166 [T/G] NM_001009931 HRNR EXON Missense_S980Y exm98899 1 152191473 [A/C] NM_001009931 HRNR EXON Missense_S878A exm98903 1 152191484 [T/G] NM_001009931 HRNR EXON Missense_S874Y exm98905 1 152191502 [C/G] NM_001009931 HRNR EXON Missense_G868A exm1714743 1 152191526 [G/C] NM_001009931 HRNR EXON Missense_S860T exm1714749 1 152191577 [T/C] NM_001009931 HRNR EXON Missense_R843Q exm98921 1 152191578 [A/G] NM_001009931 HRNR EXON Nonsense_R843X exm98923 1 152191594 [A/G] NM_001009931 HRNR EXON Synonymous_H837H exm1714751 1 152191637 [G/C] NM_001009931 HRNR EXON Missense_G823A exm98933 1 152191640 [T/G] NM_001009931 HRNR EXON Missense_S822Y exm98934 1 152191644 [T/C] NM_001009931 HRNR EXON Missense_E821K exm98938 1 152191658 [A/C] NM_001009931 HRNR EXON Missense_G816V exm98944 1 152191681 [G/C] NM_001009931 HRNR EXON Missense_E808D exm98946 1 152191696 [C/G] NM_001009931 HRNR EXON Missense_S803R exm98947 1 152191698 [T/C] NM_001009931 HRNR EXON Missense_S803G exm98948 1 152191709 [C/G] NM_001009931 HRNR EXON Missense_S799T exm98953 1 152191733 [T/G] NM_001009931 HRNR EXON Missense_H791P exm1714757 1 152191809 [T/C] NM_001009931 HRNR EXON Missense_G766S exm98965 1 152191817 [A/G] NM_001009931 HRNR EXON Missense_S763L exm98977 1 152191916 [T/C] NM_001009931 HRNR EXON Missense_G730D exm98979 1 152191932 [T/C] NM_001009931 HRNR EXON Missense_G725S exm1714760 1 152191956 [T/C] NM_001009931 HRNR EXON Missense_G717R exm98985 1 152191992 [T/A] NM_001009931 HRNR EXON Missense_S705T exm98986 1 152192007 [T/C] NM_001009931 HRNR EXON Missense_G700S exm98989 1 152192025 [C/G] NM_001009931 HRNR EXON Missense_V694L exm98994 1 152192067 [A/G] NM_001009931 HRNR EXON Missense_S680P exm99049 1 152192456 [T/G] NM_001009931 HRNR EXON Missense_S550Y exm99052 1 152192466 [A/G] NM_001009931 HRNR EXON Nonsense_R547X exm99054 1 152192471 [T/C] NM_001009931 HRNR EXON Missense_R545H exm99064 1 152192549 [T/G] NM_001009931 HRNR EXON Missense_Q519P exm99069 1 152192588 [T/C] NM_001009931 HRNR EXON Missense_R506Q newrs115929005 1 152192589 [A/G] NM_001009931 HRNR EXON Nonsense_R506X exm99079 1 152192687 [T/C] NM_001009931 HRNR EXON Missense_E473G exm99081 1 152192700 [T/C] NM_001009931 HRNR EXON Missense_E469K exm99085 1 152192717 [T/G] NM_001009931 HRNR EXON Missense_S463Y exm99091 1 152192805 [G/C] NM_001009931 HRNR EXON Missense_G434R exm99101 1 152192868 [A/G] NM_001009931 HRNR EXON Missense_R413C exm99105 1 152192882 [T/C] NM_001009931 HRNR EXON Missense_R408H exm99108 1 152192904 [T/C] NM_001009931 HRNR EXON Missense_G401S exm99110 1 152192927 [G/C] NM_001009931 HRNR EXON Missense_S393T exm99112 1 152192955 [C/G] NM_001009931 HRNR EXON Missense_A384P exm99116 1 152192978 [T/C] NM_001009931 HRNR EXON Missense_Q376R exm99138 1 152193149 [T/G] NM_001009931 HRNR EXON Missense_S319Y exm99139 1 152193150 [T/A] NM_001009931 HRNR EXON Missense_S319T exm99142 1 152193162 [T/C] NM_001009931 HRNR EXON Missense_G315S exm1714789 1 152193387 [A/G] NM_001009931 HRNR EXON Nonsense_Q240X exm99175 1 152193424 [C/G] NM_001009931 HRNR EXON Missense_Q227H exm99177 1 152193435 [T/C] NM_001009931 HRNR EXON Missense_G224S exm1714792 1 152193481 [A/G] NM_001009931 HRNR EXON Synonymous_H208H exm2273692 1 152193500 [A/G] NM_001009931 HRNR EXON Missense_S202F exm99183 1 152193528 [T/C] NM_001009931 HRNR EXON Missense_G193S exm99188 1 152193552 [T/C] NM_001009931 HRNR EXON Missense_D185N exm99191 1 152193605 [T/C] NM_001009931 HRNR EXON Missense_G167D exm99192 1 152193623 [A/C] NM_001009931 HRNR EXON Missense_F161C indel.6676 1 152193681 [I/D] NM_001009931 HRNR EXON exm99198 1 152193711 [A/C] NM_001009931 HRNR EXON Missense_W132G exm99201 1 152193741 [A/G] NM_001009931 HRNR EXON Missense_R122W exm99206 1 152193851 [T/C] NM_001009931 HRNR EXON Missense_R85H exm99209 1 152193876 [T/G] NM_001009931 HRNR EXON Missense_M77L indel.6677 1 152193914 [I/D] NM_001009931 HRNR EXON rs10888470 1 152200472 [T/C] rs2036101 1 152217443 [T/C] rs11204947 1 152218257 [T/G] rs12030667 1 152219679 [A/G] rs12746239 1 152246726 [A/G] rs12728907 1 152246771 [A/C] rs4641313 1 152255225 [A/G] rs2152862 1 152259742 [T/C] exm2249939 1 152275177 [T/C] NM_002016 FLG EXON Synonymous_X4062X exm99235 1 152275273 [T/G] NM_002016 FLG EXON Missense_T4030K exm99236 1 152275276 [A/G] NM_002016 FLG EXON Missense_A4029V exm1714812 1 152275298 [A/T] NM_002016 FLG EXON Nonsense_K4022X exm99243 1 152275403 [T/C] NM_002016 FLG EXON Missense_G3987S exm99247 1 152275421 [T/C] NM_002016 FLG EXON Missense_S3981G variant.6682 1 152275441 [T/C] NM_002016 FLG EXON Nonsense_W3974X exm99248 1 152275453 [A/G] NM_002016 FLG EXON Missense_S3970L indel.6683 1 152275461 [I/D] NM_002016 FLG EXON indel.6684 1 152275510 [D/I] NM_002016 FLG EXON exm1714814 1 152275523 [A/G] NM_002016 FLG EXON Missense_R3947C exm99253 1 152275540 [T/C] NM_002016 FLG EXON Missense_H3941R exm99256 1 152275559 [A/G] NM_002016 FLG EXON Missense_S3935P exm99261 1 152275591 [T/G] NM_002016 FLG EXON Missense_T3924N exm99265 1 152275640 [T/C] NM_002016 FLG EXON Missense_D3908N exm99271 1 152275688 [A/G] NM_002016 FLG EXON Missense_R3892W exm99272 1 152275701 [A/C] NM_002016 FLG EXON Missense_H3887Q var_1_152275721 1 152275721 [A/C] NM_002016 FLG EXON Nonsense_E3881X exm99275 1 152275740 [G/C] NM_002016 FLG EXON Missense_E3874D exm99279 1 152275790 [A/G] NM_002016 FLG EXON Missense_R3858C exm99280 1 152275795 [T/C] NM_002016 FLG EXON Missense_S3856N exm99286 1 152275877 [A/G] NM_002016 FLG EXON Missense_R3829C exm99327 1 152276159 [C/G] NM_002016 FLG EXON Missense_Q3735E exm99328 1 152276164 [A/C] NM_002016 FLG EXON Missense_G3733V exm2249940 1 152276742 [A/G] NM_002016 FLG EXON Synonymous_S3540S exm99417 1 152276858 [A/G] NM_002016 FLG EXON Missense_S3502P exm99526 1 152277614 [T/C] NM_002016 FLG EXON Missense_G3250S exm99687 1 152279658 [T/G] NM_002016 FLG EXON Missense_S2568R exm99688 1 152279661 [A/C] NM_002016 FLG EXON Missense_F2567L exm99697 1 152279707 [C/G] NM_002016 FLG EXON Missense_G2552A exm99719 1 152279809 [T/C] NM_002016 FLG EXON Missense_R2518H exm99826 1 152280710 [T/C] NM_002016 FLG EXON Missense_D2218N exm99834 1 152280739 [A/G] NM_002016 FLG EXON Missense_S2208L exm99835 1 152280758 [T/C] NM_002016 FLG EXON Missense_G2202S exm99839 1 152280782 [A/G] NM_002016 FLG EXON Missense_Y2194H exm99873 1 152281027 [T/C] NM_002016 FLG EXON Missense_G2112E exm99878 1 152281058 [A/G] NM_002016 FLG EXON Missense_S2102P exm99914 1 152281331 [T/G] NM_002016 FLG EXON Missense_L2011I exm99917 1 152281373 [T/C] NM_002016 FLG EXON Missense_A1997T exm99939 1 152281517 [C/G] NM_002016 FLG EXON Missense_Q1949E exm99951 1 152281624 [T/C] NM_002016 FLG EXON Missense_N1913S exm99970 1 152281724 [T/G] NM_002016 FLG EXON Missense_H1880N exm99971 1 152281730 [A/T] NM_002016 FLG EXON Missense_S1878T exm99973 1 152281745 [T/G] NM_002016 FLG EXON Missense_Q1873K exm99984 1 152281796 [A/G] NM_002016 FLG EXON Missense_R1856C exm99988 1 152281856 [A/C] NM_002016 FLG EXON Missense_S1836A exm99998 1 152281914 [G/C] NM_002016 FLG EXON Missense_H1816Q exm100008 1 152281985 [A/G] NM_002016 FLG EXON Missense_R1793C exm100036 1 152282228 [A/G] NM_002016 FLG EXON Nonsense_R1712X exm100038 1 152282240 [T/C] NM_002016 FLG EXON Missense_D1708N rs12405278 1 152282267 [A/G] NM_002016 FLG EXON Missense_R1699C exm100042 1 152282267 [A/G] NM_002016 FLG EXON Missense_R1699C exm100056 1 152282426 [A/G] NM_002016 FLG EXON Missense_S1646P exm100060 1 152282461 [G/C] NM_002016 FLG EXON Missense_R1634T exm100065 1 152282495 [A/G] NM_002016 FLG EXON Missense_R1623W exm100068 1 152282533 [T/C] NM_002016 FLG EXON Missense_R1610Q exm100072 1 152282596 [T/C] NM_002016 FLG EXON Missense_R1589H exm100073 1 152282597 [A/G] NM_002016 FLG EXON Missense_R1589C exm100079 1 152282635 [T/A] NM_002016 FLG EXON Missense_V1576E exm100080 1 152282657 [T/C] NM_002016 FLG EXON Missense_G1569S exm100084 1 152282684 [A/G] NM_002016 FLG EXON Missense_R1560C exm1714985 1 152282818 [T/G] NM_002016 FLG EXON Nonsense_S1515X exm100110 1 152282937 [T/G] NM_002016 FLG EXON Missense_N1475K exm1714988 1 152282941 [T/C] NM_002016 FLG EXON Missense_R1474Q exm100111 1 152282942 [A/G] NM_002016 FLG EXON Nonsense_R1474X newrs143805317 1 152283049 [T/G] NM_002016 FLG EXON Nonsense_S1438X exm100156 1 152283320 [A/G] NM_002016 FLG EXON Nonsense_Q1348X exm100160 1 152283347 [T/G] NM_002016 FLG EXON Missense_H1339N exm100173 1 152283470 [A/C] NM_002016 FLG EXON Missense_S1298A exm100174 1 152283472 [T/G] NM_002016 FLG EXON Missense_S1297Y exm100184 1 152283533 [C/G] NM_002016 FLG EXON Missense_E1277Q exm100192 1 152283604 [T/C] NM_002016 FLG EXON Missense_G1253E exm100193 1 152283605 [A/C] NM_002016 FLG EXON Nonsense_G1253X exm100200 1 152283646 [T/G] NM_002016 FLG EXON Missense_E1239A exm100201 1 152283655 [T/C] NM_002016 FLG EXON Missense_R1236H exm100202 1 152283656 [A/G] NM_002016 FLG EXON Missense_R1236C exm100204 1 152283670 [A/C] NM_002016 FLG EXON Missense_R1231M indel.6719 1 152283689 [D/I] NM_002016 FLG EXON exm100213 1 152283742 [T/G] NM_002016 FLG EXON Missense_S1207Y exm100269 1 152284213 [A/G] NM_002016 FLG EXON Missense_P1050L exm100326 1 152284628 [A/G] NM_002016 FLG EXON Missense_R912C exm100358 1 152284886 [A/G] NM_002016 FLG EXON Nonsense_R826X exm100359 1 152284903 [T/G] NM_002016 FLG EXON Missense_S820Y exm100365 1 152284948 [A/G] NM_002016 FLG EXON Missense_S805F exm100366 1 152284958 [T/G] NM_002016 FLG EXON Missense_Q802K indel.6727 1 152284983 [I/D] NM_002016 FLG EXON exm100373 1 152285002 [A/G] NM_002016 FLG EXON Missense_S787F exm100406 1 152285290 [T/C] NM_002016 FLG EXON Missense_G691E exm100424 1 152285534 [T/C] NM_002016 FLG EXON Missense_G610R exm100429 1 152285551 [T/C] NM_002016 FLG EXON Missense_G604D variant.6732 1 152285762 [A/G] NM_002016 FLG EXON Nonsense_Q534X exm100481 1 152285930 [A/G] NM_002016 FLG EXON Missense_P478S exm100492 1 152286040 [T/C] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_G441E,Silent exm100496 1 152286069 [T/G] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_N431K,Silent exm100499 1 152286107 [T/C] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_G419S,Silent exm100503 1 152286127 [T/C] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_R412H,Silent exm100505 1 152286145 [A/G] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_S406L,Silent exm100507 1 152286157 [T/C] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_R402H,Silent exm100519 1 152286325 [T/C] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_H346R,Silent exm100526 1 152286388 [A/G] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_A325V,Silent exm100531 1 152286468 [T/G] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_S298R,Silent exm100532 1 152286487 [T/C] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_R292H,Silent variant.6737 1 152286515 [T/G] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_P283T,Silent exm100541 1 152286592 [T/A] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_Y257F,Silent exm100542 1 152286593 [A/C] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_Y257D,Silent exm1715054 1 152286638 [T/C] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_E242K,Silent exm100554 1 152286889 [T/C] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_K158R,Silent indel.6740 1 152286921 [I/D] NM_002016,NR_103778 FLG,FLG-AS1 EXON exm100558 1 152286967 [T/C] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_N132S,Silent exm100564 1 152287078 [A/G] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_P95L,Silent indel.6742 1 152287164 [D/I] NM_002016,NR_103778 FLG,FLG-AS1 EXON exm100570 1 152287184 [A/G] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_H60Y,Silent exm100573 1 152287213 [T/C] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_D50G,Silent exm100578 1 152287839 [A/C] NM_002016,NR_103778 FLG,FLG-AS1 EXON Nonsense_E32X,Silent exm100580 1 152287857 [T/C] NM_002016,NR_103778 FLG,FLG-AS1 EXON Missense_D26N,Silent rs3134871 1 152299233 [A/G] NR_103778 FLG-AS1 Silent exm-rs3126085 1 152300817 [A/G] NR_103778 FLG-AS1 Silent rs2050631 1 152312597 [A/G] NR_103778,NR_103779 FLG-AS1,FLG-AS1 Silent,Silent exm-rs3120665 1 152316590 [A/G] NR_103778,NR_103779 FLG-AS1,FLG-AS1 Silent,Silent rs3120669 1 152319915 [T/G] NR_103778,NR_103779 FLG-AS1,FLG-AS1 Silent,Silent rs2065954 1 152321344 [T/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Silent rs11204982 1 152322042 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Silent exm100586 1 152323087 [G/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_X2392S exm100588 1 152323132 [T/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Nonsense_S2377X newrs12568784 1 152323132 [T/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Nonsense_S2377X exm100599 1 152323427 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_A2279T exm100601 1 152323433 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_G2277S exm100605 1 152323444 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_G2273E newrs150581091 1 152323551 [A/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Nonsense_Y2237X exm100612 1 152323640 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_H2208Y exm100616 1 152323704 [A/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_S2186R exm100620 1 152323807 [A/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_G2152V variant.6747 1 152323814 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Nonsense_Q2150X exm100621 1 152323822 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_I2147T exm100625 1 152323838 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_G2142R variant.6749 1 152323988 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Nonsense_Q2092X newrs74923882 1 152324000 [A/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Nonsense_G2088X exm100630 1 152324002 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_H2087R exm100633 1 152324014 [C/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_A2083G exm100655 1 152324279 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_G1995R exm100661 1 152324316 [T/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_H1982Q variant.6752 1 152324330 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Nonsense_Q1978X exm100663 1 152324333 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_G1977S exm100665 1 152324348 [T/A] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_S1972T exm100667 1 152324374 [A/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_G1963V exm100669 1 152324432 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_G1944R indel.6754 1 152324500 [D/I] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON exm100676 1 152324559 [G/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_H1901Q exm100678 1 152324599 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_V1888A exm100683 1 152324636 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_R1876G exm100684 1 152324654 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_S1870P exm100687 1 152324681 [A/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_G1861C indel.6756 1 152324724 [I/D] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON variant.6757 1 152324798 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Nonsense_R1822X exm100699 1 152324981 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_S1761P exm100700 1 152324987 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_S1759P exm100705 1 152325140 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_Y1708H exm100716 1 152325368 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_H1632Y variant.6758 1 152325449 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Nonsense_Q1605X exm100718 1 152325455 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_G1603R variant.6759 1 152325479 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Nonsense_R1595X exm100726 1 152325546 [C/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_Q1572H newrs148445702 1 152325692 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Nonsense_Q1524X indel.6761 1 152325698 [D/I] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON exm100736 1 152325721 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_S1514L indel.6762 1 152325796 [D/I] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON exm100751 1 152325959 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_G1435R newrs140668061 1 152326160 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Nonsense_Q1368X var_1_152326321 1 152326321 [I/D] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON exm100772 1 152326339 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_R1308H exm100774 1 152326442 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_E1274K exm100789 1 152326715 [A/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_V1183L exm100791 1 152326765 [G/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_C1166S exm100792 1 152326769 [A/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_G1165C exm100796 1 152326843 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_G1140D exm100802 1 152327069 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_G1065R variant.6767 1 152327128 [T/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Nonsense_S1045X exm2249946 1 152327151 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Synonymous_G1037G exm100813 1 152327377 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_G962D exm100815 1 152327404 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_S953L exm2231286 1 152327546 [T/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_Q906K indel.6769 1 152327979 [I/D] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON exm100876 1 152328095 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_E723K exm100882 1 152328190 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_S691F exm1715119 1 152328835 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_T476I exm100925 1 152328935 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_E443K exm1715121 1 152328956 [A/T] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_L436M exm100927 1 152329055 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_R403C newrs140523312 1 152329141 [T/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Nonsense_S374X indel.6772 1 152329247 [I/D] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON exm100933 1 152329256 [A/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_S336A exm100936 1 152329307 [T/A] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_S319T exm100938 1 152329369 [G/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_C298S exm100939 1 152329370 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_C298R exm100941 1 152329435 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_R276Q exm100944 1 152329460 [A/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_S268A exm100946 1 152329529 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_E245K exm100947 1 152329530 [G/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_L244F exm100948 1 152329534 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_G243E exm1715126 1 152329644 [T/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_E206D exm100957 1 152329758 [T/A] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_L168F exm100959 1 152329784 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_R160G exm100962 1 152329852 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_G137E exm100964 1 152329942 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_R107Q exm100965 1 152329951 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_R104H exm100966 1 152329952 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_R104C exm100969 1 152331240 [A/G] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_L41F exm100975 1 152331330 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_V11I exm100978 1 152331354 [T/C] NR_103778,NR_103779,NM_001014342 FLG-AS1,FLG-AS1,FLG2 EXON Silent,Silent,Missense_D3N rs7515448 1 152372035 [A/G] rs6678022 1 152377621 [A/G] exm100981 1 152382120 [T/C] NM_016190 CRNN EXON Missense_G480S exm100982 1 152382122 [T/C] NM_016190 CRNN EXON Missense_R479Q exm100984 1 152382152 [T/C] NM_016190 CRNN EXON Missense_G469D exm100986 1 152382312 [T/C] NM_016190 CRNN EXON Missense_E416K exm1715132 1 152382436 [G/C] NM_016190 CRNN EXON Missense_Q374H exm100990 1 152382444 [T/C] NM_016190 CRNN EXON Missense_R372G exm101014 1 152383119 [T/G] NM_016190 CRNN EXON Missense_Q147K exm101015 1 152383131 [A/C] NM_016190 CRNN EXON Missense_G143C exm101020 1 152383244 [A/G] NM_016190 CRNN EXON Missense_L105P exm101022 1 152383266 [T/C] NM_016190 CRNN EXON Missense_G98S exm101023 1 152383382 [T/C] NM_016190 CRNN EXON Missense_R59H variant.6785 1 152384572 [T/C] NM_016190 CRNN EXON Synonymous_V46V exm101030 1 152384630 [A/G] NM_016190 CRNN EXON Missense_A27V rs7521839 1 152384759 [A/G] NM_016190 CRNN Silent rs726863 1 152400361 [T/C] rs1923501 1 152411153 [T/C] rs2146118 1 152412196 [A/G] rs11205003 1 152416630 [T/C] rs6667236 1 152423840 [T/C] rs6694145 1 152424825 [T/G] rs6587673 1 152430152 [A/G] rs4845771 1 152430680 [T/C] rs6696556 1 152430842 [T/G] rs1923495 1 152440753 [T/C] exm-rs908922 1 152454591 [A/G] exm2259807 1 152457624 [A/G] rs11205010 1 152457964 [T/C] rs1415432 1 152480654 [A/G] exm101040 1 152484119 [A/C] NM_178438 LCE5A EXON Missense_P37T exm101053 1 152484245 [T/C] NM_178438 LCE5A EXON Nonsense_R79X exm101055 1 152484260 [T/A] NM_178438 LCE5A EXON Missense_S84C exm101062 1 152487917 [A/G] NM_019060 CRCT1 EXON Missense_G20S exm101073 1 152488101 [G/C] NM_019060 CRCT1 EXON Missense_G81A exm101074 1 152488146 [A/G] NM_019060 CRCT1 EXON Missense_C96Y rs1053590 1 152488428 [T/C] NM_019060 CRCT1 EXON Silent rs4845783 1 152492559 [A/G] exm-rs499697 1 152493154 [A/G] rs12079099 1 152494966 [A/G] rs474086 1 152513431 [T/C] rs549044 1 152514332 [T/C] rs7530609 1 152526812 [A/C] rs4240889 1 152534954 [A/C] exm-rs10888501 1 152537954 [A/G] exm-rs4085613 1 152550018 [T/G] exm-rs4112788 1 152551276 [A/G] rs4845313 1 152552461 [A/C] NM_032563 LCE3D Silent exm101134 1 152573271 [A/C] NM_178434 LCE3C EXON Missense_P22T rs6677595 1 152590187 [T/C] exm101160 1 152595405 [A/G] NM_178431 LCE3A EXON Missense_R59C exm1715210 1 152595565 [C/G] NM_178431 LCE3A EXON Missense_Q5H rs4845457 1 152598435 [T/C] rs1325508 1 152612910 [T/C] rs942826 1 152617781 [A/G] rs12096806 1 152643160 [A/G] rs11205066 1 152644161 [T/C] rs11205073 1 152654385 [A/C] rs4845317 1 152670341 [A/G] exm101242 1 152671385 [A/G] NM_178428 LCE2A EXON Missense_C3Y variant.6800 1 152671387 [T/C] NM_178428 LCE2A EXON Nonsense_Q4X exm101268 1 152671679 [T/G] NM_178428 LCE2A EXON Missense_S101I rs16834343 1 152672349 [A/G] rs6693713 1 152675538 [T/C] exm101273 1 152681553 [A/T] NM_178356 LCE4A EXON Missense_M1K exm101274 1 152681560 [A/C] NM_178356 LCE4A EXON Nonsense_C3X exm101276 1 152681603 [A/G] NM_178356 LCE4A EXON Missense_I18V exm101281 1 152681655 [T/C] NM_178356 LCE4A EXON Missense_P35L exm101296 1 152681835 [T/G] NM_178356 LCE4A EXON Missense_G95V exm101304 1 152692074 [C/G] NM_001024679 C1orf68 EXON Missense_S26T exm101306 1 152692173 [A/G] NM_001024679 C1orf68 EXON Missense_Q59R exm101311 1 152692472 [A/C] NM_001024679 C1orf68 EXON Missense_T159P exm101313 1 152692512 [A/G] NM_001024679 C1orf68 EXON Missense_C172Y exm101314 1 152692514 [C/G] NM_001024679 C1orf68 EXON Missense_L173V rs6700613 1 152697338 [T/C] rs11205094 1 152708619 [T/G] rs1332506 1 152724053 [T/C] exm101328 1 152732105 [A/C] NM_001025231 KPRP EXON Missense_Q14P exm101329 1 152732106 [A/T] NM_001025231 KPRP EXON Missense_Q14H exm101333 1 152732174 [T/C] NM_001025231 KPRP EXON Missense_V37A exm1715276 1 152732299 [A/G] NM_001025231 KPRP EXON Missense_K79E exm101337 1 152732366 [A/C] NM_001025231 KPRP EXON Missense_Q101P exm101339 1 152732383 [A/G] NM_001025231 KPRP EXON Missense_V107I exm101340 1 152732401 [T/C] NM_001025231 KPRP EXON Missense_C113R variant.6808 1 152732542 [T/C] NM_001025231 KPRP EXON Nonsense_Q160X exm101349 1 152732567 [A/G] NM_001025231 KPRP EXON Missense_R168H exm101353 1 152732732 [T/C] NM_001025231 KPRP EXON Missense_S223F exm101357 1 152732786 [A/G] NM_001025231 KPRP EXON Missense_G241E exm101358 1 152732834 [G/C] NM_001025231 KPRP EXON Missense_P257R exm2249952 1 152732844 [A/G] NM_001025231 KPRP EXON Synonymous_R260R exm101362 1 152732876 [T/C] NM_001025231 KPRP EXON Missense_P271L exm2231305 1 152733046 [A/G] NM_001025231 KPRP EXON Missense_E328K exm101381 1 152733183 [A/C] NM_001025231 KPRP EXON Missense_H373Q exm101385 1 152733269 [T/C] NM_001025231 KPRP EXON Missense_P402L exm101386 1 152733275 [T/C] NM_001025231 KPRP EXON Missense_P404L exm101389 1 152733320 [A/G] NM_001025231 KPRP EXON Missense_R419H exm101393 1 152733376 [C/G] NM_001025231 KPRP EXON Missense_P438A exm101395 1 152733395 [T/C] NM_001025231 KPRP EXON Missense_P444L exm101400 1 152733472 [T/C] NM_001025231 KPRP EXON Missense_P470S exm101404 1 152733550 [A/C] NM_001025231 KPRP EXON Missense_R496S exm101413 1 152733658 [A/C] NM_001025231 KPRP EXON Missense_P532T exm101414 1 152733677 [T/G] NM_001025231 KPRP EXON Missense_G538V rs11205102 1 152747126 [A/G] rs913998 1 152749891 [T/G] rs1888964 1 152750506 [T/C] rs950337 1 152756774 [T/C] exm1715322 1 152777604 [T/G] NM_001276331,NM_178351 LCE1C,LCE1C EXON Nonsense_C87X,Nonsense_C117X exm101568 1 152785261 [G/C] NM_178349 LCE1B EXON Missense_H113Q exm101595 1 152800273 [T/G] NM_178348 LCE1A EXON Missense_C109G rs1411618 1 152815273 [A/G] rs16834611 1 152816340 [A/G] NM_001128600 LCE6A EXON Silent rs6698649 1 152817635 [T/C] rs12565568 1 152823380 [A/C] rs10399703 1 152832473 [T/C] exm2259809 1 152849299 [A/G] rs11205129 1 152856302 [A/G] NM_030663 SMCP Silent indel.6819 1 152856910 [D/I] NM_030663 SMCP EXON exm101610 1 152856911 [T/A] NM_030663 SMCP EXON Missense_T5S exm101611 1 152856917 [T/C] NM_030663 SMCP EXON Missense_H7Y exm2231316 1 152857010 [A/C] NM_030663 SMCP EXON Missense_K38Q indel.6821 1 152857214 [I/D] NM_030663 SMCP EXON rs6587709 1 152862466 [A/G] rs16834740 1 152868945 [A/G] rs16834746 1 152879096 [T/C] exm101624 1 152882302 [T/C] NM_005547 IVL EXON Missense_T10I exm101625 1 152882350 [T/C] NM_005547 IVL EXON Missense_P26L exm101632 1 152882512 [A/G] NM_005547 IVL EXON Missense_K80R newrs149812110 1 152882541 [T/C] NM_005547 IVL EXON Nonsense_Q90X exm2276998 1 152882562 [T/G] NM_005547 IVL EXON Nonsense_E97X exm101636 1 152882610 [A/G] NM_005547 IVL EXON Missense_T113A rs2229496 1 152882610 [A/G] NM_005547 IVL EXON Missense_T113A exm101638 1 152882700 [T/G] NM_005547 IVL EXON Nonsense_E143X exm101641 1 152882748 [G/C] NM_005547 IVL EXON Missense_Q159E exm101644 1 152882758 [A/G] NM_005547 IVL EXON Missense_H162R exm101646 1 152882760 [G/C] NM_005547 IVL EXON Missense_L163V exm101653 1 152882797 [A/T] NM_005547 IVL EXON Missense_H175L exm101698 1 152883155 [T/G] NM_005547 IVL EXON Missense_K294N exm101699 1 152883163 [T/A] NM_005547 IVL EXON Missense_D297V exm101701 1 152883207 [A/C] NM_005547 IVL EXON Missense_Q312K exm101718 1 152883381 [A/G] NM_005547 IVL EXON Missense_V370M exm101730 1 152883573 [A/G] NM_005547 IVL EXON Missense_E434K exm2249954 1 152883680 [A/G] NM_005547 IVL EXON Synonymous_Q469Q exm101746 1 152883687 [T/C] NM_005547 IVL EXON Missense_L472F exm101747 1 152883702 [A/G] NM_005547 IVL EXON Missense_E477K exm101749 1 152883711 [G/C] NM_005547 IVL EXON Missense_V480L exm101751 1 152883786 [C/G] NM_005547 IVL EXON Missense_Q505E exm101753 1 152883789 [G/C] NM_005547 IVL EXON Missense_Q506E exm101757 1 152883825 [A/G] NM_005547 IVL EXON Missense_G518R exm101766 1 152884006 [T/C] NM_005547 IVL EXON Missense_V578A rs4845496 1 152888178 [A/G] rs12027303 1 152897923 [T/C] rs756303 1 152908222 [T/C] exm-rs11576457 1 152918556 [T/C] rs2066004 1 152922896 [A/G] rs7546648 1 152931207 [T/C] rs4845501 1 152937401 [A/G] exm101772 1 152944369 [A/G] NM_173080 SPRR4 EXON Missense_M1I exm101773 1 152944388 [T/C] NM_173080 SPRR4 EXON Missense_R8W rs16834786 1 152944499 [T/C] NM_173080 SPRR4 EXON Missense_P45S exm101781 1 152944499 [T/C] NM_173080 SPRR4 EXON Missense_P45S rs1611764 1 152957887 [A/G] NM_001199828,NM_005987 SPRR1A,SPRR1A EXON Missense_V61I,Missense_V61I rs1933383 1 152963468 [T/C] rs16834855 1 152965624 [T/C] rs6671414 1 152974119 [T/C] exm101807 1 152975555 [A/G] NM_005416,NM_001097589 SPRR3,SPRR3 EXON Missense_Q20R,Missense_Q20R indel.6833 1 152975615 [I/D] NM_005416,NM_001097589 SPRR3,SPRR3 EXON exm101812 1 152975677 [A/G] NM_005416,NM_001097589 SPRR3,SPRR3 EXON Missense_V61I,Missense_V61I exm101822 1 152975798 [T/C] NM_005416,NM_001097589 SPRR3,SPRR3 EXON Missense_V101A,Missense_V101A exm101823 1 152975810 [A/G] NM_005416,NM_001097589 SPRR3,SPRR3 EXON Missense_G105D,Missense_G105D exm101827 1 152975831 [T/C] NM_005416,NM_001097589 SPRR3,SPRR3 EXON Missense_P112L,Missense_P112L exm101829 1 152975845 [T/G] NM_005416,NM_001097589 SPRR3,SPRR3 EXON Missense_V117F,Missense_V117F exm101836 1 152975936 [G/C] NM_005416,NM_001097589 SPRR3,SPRR3 EXON Missense_T147R,Missense_T147R exm101837 1 152975941 [G/C] NM_005416,NM_001097589 SPRR3,SPRR3 EXON Missense_L149V,Missense_L149V exm101839 1 152975963 [T/C] NM_005416,NM_001097589 SPRR3,SPRR3 EXON Missense_T156M,Missense_T156M rs6683514 1 152984397 [A/G] exm2249955 1 153004848 [T/C] NM_003125 SPRR1B EXON Synonymous_P9P exm101854 1 153004859 [T/C] NM_003125 SPRR1B EXON Missense_P13L exm2231325 1 153005023 [A/C] NM_003125 SPRR1B EXON Missense_K68Q rs407448 1 153007504 [T/C] rs1048296 1 153012240 [A/C] NM_006945 SPRR2D EXON Silent rs310098 1 153037463 [T/C] rs6673356 1 153041903 [A/G] rs310103 1 153042554 [A/C] rs6664183 1 153064002 [A/G] rs11205195 1 153069584 [A/G] rs2018193 1 153079072 [A/C] indel.6838 1 153085013 [I/D] NM_001014450 SPRR2F EXON rs10157591 1 153086543 [T/G] rs11586440 1 153091081 [A/G] rs381115 1 153099345 [A/G] rs428913 1 153101488 [T/C] rs533437 1 153119969 [T/C] rs509194 1 153122171 [A/G] NM_001014291 SPRR2G EXON Silent exm101949 1 153122367 [A/G] NM_001014291 SPRR2G EXON Missense_X74Q variant.6839 1 153122404 [T/G] NM_001014291 SPRR2G EXON Nonsense_Y61X exm101952 1 153122404 [T/G] NM_001014291 SPRR2G EXON Nonsense_Y61X exm101955 1 153122498 [A/G] NM_001014291 SPRR2G EXON Missense_P30L exm101962 1 153122579 [T/C] NM_001014291 SPRR2G EXON Missense_Y3C rs1831238 1 153169522 [A/G] exm101965 1 153177184 [A/G] NM_001010857 LELP1 EXON Missense_M1V exm101981 1 153177373 [A/C] NM_001010857 LELP1 EXON Missense_Q64K rs11205222 1 153182979 [A/G] rs1360100 1 153192214 [A/G] rs12081567 1 153200987 [T/C] rs1410863 1 153207274 [A/G] rs4517302 1 153207416 [T/G] rs10888541 1 153209588 [A/G] rs7523883 1 153214867 [T/C] rs9887773 1 153225114 [T/C] rs7518712 1 153225886 [A/G] rs873233 1 153226983 [A/G] exm2249957 1 153226983 [A/G] rs11589914 1 153230954 [T/C] rs943967 1 153231876 [A/G] exm102031 1 153234299 [A/G] NM_000427 LOR EXON Missense_G292S rs10888547 1 153242088 [T/C] rs4345763 1 153253740 [A/G] exm102037 1 153270461 [T/G] NM_052891 PGLYRP3 EXON Missense_I333L exm102040 1 153270580 [A/G] NM_052891 PGLYRP3 EXON Missense_A293V exm102045 1 153271621 [A/G] NM_052891 PGLYRP3 EXON Missense_A272V exm102048 1 153271682 [T/C] NM_052891 PGLYRP3 EXON Missense_V252M exm102050 1 153271685 [T/C] NM_052891 PGLYRP3 EXON Missense_G251S exm102057 1 153274919 [T/C] NM_052891 PGLYRP3 EXON Missense_M232V exm102059 1 153274935 [T/G] NM_052891 PGLYRP3 EXON Missense_N226K variant.6842 1 153274940 [A/G] NM_052891 PGLYRP3 EXON Nonsense_R225X exm102062 1 153274972 [A/C] NM_052891 PGLYRP3 EXON Missense_C214F variant.6843 1 153275063 [A/G] NM_052891 PGLYRP3 EXON Nonsense_R184X rs821427 1 153275977 [T/C] NM_052891 PGLYRP3 Silent exm102066 1 153276333 [C/G] NM_052891 PGLYRP3 EXON Missense_V177L exm2249958 1 153276355 [T/C] NM_052891 PGLYRP3 EXON Synonymous_Q169Q exm2249959 1 153276409 [T/C] NM_052891 PGLYRP3 EXON Synonymous_S151S exm102072 1 153276425 [T/G] NM_052891 PGLYRP3 EXON Missense_Q146P exm102074 1 153276449 [T/C] NM_052891 PGLYRP3 EXON Missense_E138G exm102076 1 153277423 [T/C] NM_052891 PGLYRP3 EXON Missense_G126S exm102079 1 153277452 [A/G] NM_052891 PGLYRP3 EXON Missense_L116P exm102082 1 153277491 [A/G] NM_052891 PGLYRP3 EXON Missense_I103T exm102087 1 153279548 [A/G] NM_052891 PGLYRP3 EXON Missense_A84V exm102088 1 153279549 [G/C] NM_052891 PGLYRP3 EXON Missense_A84P exm102090 1 153279576 [T/C] NM_052891 PGLYRP3 EXON Missense_V75I exm102092 1 153279596 [T/C] NM_052891 PGLYRP3 EXON Missense_R68Q exm102093 1 153279597 [A/G] NM_052891 PGLYRP3 EXON Missense_R68W exm102096 1 153279615 [T/C] NM_052891 PGLYRP3 EXON Missense_V62I exm102098 1 153279624 [A/G] NM_052891 PGLYRP3 EXON Nonsense_Q59X exm102101 1 153279696 [T/C] NM_052891 PGLYRP3 EXON Missense_A35T exm102103 1 153279702 [A/G] NM_052891 PGLYRP3 EXON Missense_P33S exm102106 1 153279723 [A/G] NM_052891 PGLYRP3 EXON Missense_R26C exm1715471 1 153283092 [A/G] NM_052891 PGLYRP3 EXON Missense_A17V exm102112 1 153283134 [A/G] NM_052891 PGLYRP3 EXON Missense_T3M rs2987760 1 153283495 [A/G] rs821408 1 153296027 [T/C] rs2570440 1 153302827 [T/G] NM_020393 PGLYRP4 EXON Silent exm102119 1 153303326 [T/C] NM_020393 PGLYRP4 EXON Missense_G347S exm102123 1 153303392 [T/C] NM_020393 PGLYRP4 EXON Missense_A325T rs1655310 1 153303930 [A/G] NM_020393 PGLYRP4 Silent exm102124 1 153309699 [T/C] NM_020393 PGLYRP4 EXON Missense_D301N exm2276999 1 153312870 [T/C] NM_020393 PGLYRP4 EXON Missense_D271N exm102134 1 153312912 [A/G] NM_020393 PGLYRP4 EXON Missense_R257W exm102135 1 153312924 [A/G] NM_020393 PGLYRP4 EXON Missense_R253C exm102138 1 153312983 [A/G] NM_020393 PGLYRP4 EXON Missense_A233V exm1715479 1 153313010 [A/G] NM_020393 PGLYRP4 EXON Missense_T224I exm102141 1 153313034 [T/C] NM_020393 PGLYRP4 EXON Missense_R216Q exm102142 1 153313044 [T/C] NM_020393 PGLYRP4 EXON Missense_V213I exm1715483 1 153314113 [G/C] NM_020393 PGLYRP4 EXON Missense_S205R exm102148 1 153314115 [T/A] NM_020393 PGLYRP4 EXON Missense_S205C exm102151 1 153314153 [A/C] NM_020393 PGLYRP4 EXON Missense_G192V rs3006448 1 153314153 [A/C] NM_020393 PGLYRP4 EXON Missense_G192V exm102154 1 153314190 [T/C] NM_020393 PGLYRP4 EXON Missense_G180S exm102157 1 153314228 [A/G] NM_020393 PGLYRP4 EXON Missense_S167L exm102158 1 153315578 [T/C] NM_020393 PGLYRP4 EXON Missense_G154S exm102165 1 153317699 [T/C] NM_020393 PGLYRP4 EXON Missense_R100Q exm102166 1 153317705 [A/C] NM_020393 PGLYRP4 EXON Missense_R98I rs3006453 1 153317723 [T/C] NM_020393 PGLYRP4 EXON Missense_Q92R exm102168 1 153317723 [T/C] NM_020393 PGLYRP4 EXON Missense_Q92R exm102170 1 153317777 [A/G] NM_020393 PGLYRP4 EXON Missense_T74M exm1715486 1 153317814 [T/C] NM_020393 PGLYRP4 EXON Missense_G62R exm102172 1 153317834 [A/G] NM_020393 PGLYRP4 EXON Missense_T55M exm102177 1 153320372 [T/G] NM_020393 PGLYRP4 EXON Missense_I13L exm102179 1 153320401 [A/G] NM_020393 PGLYRP4 EXON Missense_P3L rs3753460 1 153322574 [T/C] rs11205275 1 153325156 [A/G] rs2916196 1 153328347 [A/G] exm102183 1 153330787 [T/C] NM_002965 S100A9 EXON Missense_R10C exm102185 1 153330884 [A/G] NM_002965 S100A9 EXON Missense_R42Q exm102190 1 153333264 [A/G] NM_002965 S100A9 EXON Missense_E99K rs1560832 1 153335384 [A/G] rs3006475 1 153344636 [A/C] variant.6856 1 153346407 [A/G] NM_005621 S100A12 EXON Nonsense_Q59X exm1715517 1 153346951 [T/C] NM_005621 S100A12 EXON Missense_E40K exm102206 1 153347062 [T/C] NM_005621 S100A12 EXON Missense_K3E exm2273336 1 153362507 [A/G] exm102212 1 153362927 [T/C] NM_001319197,NM_001319198,NM_002964,NM_001319196,NM_001319201 S100A8,S100A8,S100A8,S100A8,S100A8 EXON Missense_V52I,Missense_V37I,Missense_V29I,Missense_V53I,Missense_V29I rs11580467 1 153377503 [T/C] NM_001319198 S100A8 Silent exm102219 1 153390542 [G/C] NM_001319198,NM_176823 S100A8,S100A7A EXON Silent,Silent exm102247 1 153391692 [T/G] NM_001319198,NM_176823 S100A8,S100A7A EXON Silent,Missense_D71E exm102256 1 153391781 [A/G] NM_001319198,NM_176823 S100A8,S100A7A EXON Silent,Missense_Q101R rs3014818 1 153393554 [T/C] NM_001319198,NM_176823 S100A8,S100A7A EXON Silent,Silent rs16835308 1 153404808 [T/C] rs12043556 1 153407572 [T/C] rs2026604 1 153408831 [A/G] exm102267 1 153409674 [A/G] exm102270 1 153410679 [A/G] exm102271 1 153410682 [T/C] exm102275 1 153410751 [C/G] exm102280 1 153410777 [A/G] exm102281 1 153410798 [A/G] exm102282 1 153410822 [A/C] exm102288 1 153430285 [A/C] NM_002963 S100A7 EXON Missense_Q101H exm102294 1 153430416 [T/C] NM_002963 S100A7 EXON Missense_V58I exm102303 1 153431406 [C/G] NM_002963 S100A7 EXON Missense_E28D exm102305 1 153431435 [T/G] NM_002963 S100A7 EXON Missense_K19Q exm1715554 1 153431505 [T/G] NM_002963 S100A7 EXON Silent rs11205297 1 153433696 [T/C] rs10888567 1 153450505 [T/C] exm-rs4845552 1 153479998 [A/G] rs6684970 1 153495244 [T/C] exm102310 1 153507176 [T/C] NM_014624 S100A6 EXON Missense_G90D exm102312 1 153507255 [T/C] NM_014624 S100A6 EXON Missense_K64E exm102317 1 153507679 [A/G] NM_014624 S100A6 EXON Missense_S46L exm102318 1 153507710 [C/G] NM_014624 S100A6 EXON Missense_E36Q exm102319 1 153507738 [G/C] NM_014624 S100A6 EXON Missense_K26N exm102320 1 153507755 [T/C] NM_014624 S100A6 EXON Missense_G21S exm102323 1 153507787 [T/C] NM_014624 S100A6 EXON Missense_G10D exm102324 1 153507809 [A/G] NM_014624 S100A6 EXON Missense_C3R exm102325 1 153507812 [T/C] NM_014624 S100A6 EXON Missense_A2T exm102333 1 153509890 [T/C] NM_002962 S100A5 EXON Missense_D54G rs3795393 1 153509890 [T/C] NM_002962 S100A5 EXON Missense_D54G newrs182844223 1 153512529 [T/C] NM_002962 S100A5 Silent exm102336 1 153512532 [T/C] NM_002962 S100A5 EXON Missense_E46K exm102341 1 153512612 [T/A] NM_002962 S100A5 EXON Missense_Y19F exm2231338 1 153514241 [A/C] NM_002962 S100A5 EXON Silent exm102356 1 153516320 [T/C] NM_019554,NM_002961 S100A4,S100A4 EXON Missense_E74G,Missense_E74G exm102357 1 153516327 [A/C] NM_019554,NM_002961 S100A4,S100A4 EXON Missense_F72V,Missense_F72V variant.6861 1 153516375 [A/G] NM_019554,NM_002961 S100A4,S100A4 EXON Nonsense_Q56X,Nonsense_Q56X exm102362 1 153517129 [T/C] NM_019554,NM_002961 S100A4,S100A4 Silent,Silent rs11488669 1 153517519 [A/G] NM_019554,NM_002961 S100A4,S100A4 Silent,Silent exm102376 1 153520235 [A/G] NR_125947,NM_002960 LOC101928034,S100A3 EXON Silent,Missense_R77C newrs11390146 1 153520256 [D/I] NR_125947,NM_002960 LOC101928034,S100A3 EXON variant.6864 1 153520260 [T/G] NR_125947,NM_002960 LOC101928034,S100A3 EXON Silent,Nonsense_C68X exm102377 1 153520280 [G/C] NR_125947,NM_002960 LOC101928034,S100A3 EXON Silent,Missense_L62V exm102378 1 153520297 [T/C] NR_125947,NM_002960 LOC101928034,S100A3 EXON Silent,Missense_N56S exm102383 1 153520898 [A/G] NR_125947,NM_002960 LOC101928034,S100A3 EXON Silent,Missense_R22C exm102385 1 153520954 [T/C] NR_125947,NM_002960 LOC101928034,S100A3 EXON Silent,Missense_R3K rs3762268 1 153522350 [A/G] NR_125947 LOC101928034 Silent rs8401 1 153533898 [A/G] NM_005978 S100A2 EXON Silent exm102388 1 153533923 [A/G] NM_005978 S100A2 EXON Nonsense_R96X exm102392 1 153534027 [T/C] NM_005978 S100A2 EXON Missense_S61N exm102398 1 153536346 [G/C] NM_005978 S100A2 EXON Missense_C2S rs9727230 1 153557682 [T/C] exm102410 1 153580155 [A/C] NR_133645,NM_001317007,NM_080388,NM_001317008 S100A16,S100A16,S100A16,S100A16 EXON Silent,Missense_R56L,Missense_R56L,Missense_R56L exm102422 1 153580623 [G/C] NR_133645,NM_001317007,NM_080388,NM_001317008 S100A16,S100A16,S100A16,S100A16 EXON Silent,Nonsense_S2X,Nonsense_S2X,Nonsense_S2X exm1715597 1 153580653 [A/C] NR_133645,NM_001317007,NM_080388,NM_001317008 S100A16,S100A16,S100A16,S100A16 EXON Silent,Silent,Silent,Silent rs11548104 1 153587308 [T/C] NM_020672 S100A14 EXON Silent exm102427 1 153587371 [T/C] NM_020672 S100A14 EXON Missense_R102Q exm102430 1 153587413 [A/G] NM_020672 S100A14 EXON Missense_I88T exm2231340 1 153587425 [A/G] NM_020672 S100A14 EXON Missense_F84S indel.6870 1 153587473 [I/D] NM_020672 S100A14 EXON exm1715601 1 153587711 [T/C] NM_020672 S100A14 EXON Synonymous_P59P exm102448 1 153591448 [T/G] NM_005979,NM_001024210,NM_001024213,NM_001024211,NM_001024212 S100A13,S100A13,S100A13,S100A13,S100A13 EXON Missense_N74H,Missense_N74H,Missense_N74H,Missense_N74H,Missense_N74H exm102451 1 153591508 [T/C] NM_005979,NM_001024210,NM_001024213,NM_001024211,NM_001024212 S100A13,S100A13,S100A13,S100A13,S100A13 EXON Missense_G54S,Missense_G54S,Missense_G54S,Missense_G54S,Missense_G54S exm102468 1 153603103 [A/G] NM_001024210,NM_006271 S100A13,S100A1 EXON Silent,Missense_E36K exm2231342 1 153604293 [G/C] NM_001024210,NM_006271 S100A13,S100A1 EXON Silent,Missense_N87K rs3818632 1 153604519 [A/G] NM_001024210 S100A13 EXON Silent exm102500 1 153614810 [A/G] NM_001206612,NM_015607,NM_001317077,NM_001244664 CHTOP,CHTOP,CHTOP,CHTOP EXON Missense_R104Q,Missense_R103Q,Missense_R103Q,Silent exm102512 1 153615729 [A/G] NM_001206612,NM_015607,NM_001317077,NM_001244664 CHTOP,CHTOP,CHTOP,CHTOP EXON Missense_A145T,Missense_A144T,Silent,Silent exm102515 1 153615820 [A/G] NM_001206612,NM_015607,NM_001317077,NM_001244664 CHTOP,CHTOP,CHTOP,CHTOP EXON Missense_R175H,Missense_R174H,Silent,Silent exm102516 1 153615831 [A/G] NM_001206612,NM_015607,NM_001317077,NM_001244664 CHTOP,CHTOP,CHTOP,CHTOP EXON Missense_G179S,Missense_G178S,Silent,Silent exm102520 1 153617543 [A/G] NM_001206612,NM_015607,NM_001317077,NM_001244664 CHTOP,CHTOP,CHTOP,CHTOP EXON Missense_R183Q,Missense_R182Q,Missense_R136Q,Missense_G75R exm102527 1 153617603 [G/C] NM_001206612,NM_015607,NM_001317077,NM_001244664 CHTOP,CHTOP,CHTOP,CHTOP EXON Missense_G203A,Missense_G202A,Missense_G156A,Silent exm102534 1 153617737 [A/G] NM_001206612,NM_015607,NM_001317077,NM_001244664 CHTOP,CHTOP,CHTOP,CHTOP EXON Missense_N248D,Missense_N247D,Missense_N201D,Silent rs4845563 1 153629026 [A/G] rs7345 1 153634058 [T/G] NR_052020,NR_052019,NM_012437 SNAPIN,SNAPIN,SNAPIN EXON Silent,Silent,Silent exm2249961 1 153635194 [T/C] NM_004515,NM_001267809 ILF2,ILF2 EXON Synonymous_E333E,Synonymous_E295E rs6427671 1 153637404 [A/G] NM_004515,NM_001267809 ILF2,ILF2 Silent,Silent 1KG_1_153641026 1 153641026 [I/D] NM_004515,NM_001267809 ILF2,ILF2 EXON exm102615 1 153652129 [T/C] NM_000906 NPR1 EXON Missense_A182V variant.6878 1 153653740 [T/C] NM_000906 NPR1 EXON Nonsense_Q336X exm102627 1 153653757 [C/G] NM_000906 NPR1 EXON Missense_M341I exm1715696 1 153654234 [A/G] NM_000906 NPR1 EXON Missense_V364M exm102649 1 153655966 [A/G] NM_000906 NPR1 EXON Missense_E460K exm102650 1 153656216 [A/G] NM_000906 NPR1 EXON Missense_D467G exm102651 1 153656228 [A/C] NM_000906 NPR1 EXON Missense_T471N exm102667 1 153658297 [A/G] NM_000906 NPR1 EXON Missense_G541S exm102668 1 153658306 [A/C] NM_000906 NPR1 EXON Missense_L544I exm102677 1 153659131 [A/G] NM_000906 NPR1 EXON Missense_V590M exm102680 1 153659550 [A/G] NM_000906 NPR1 EXON Missense_N641S exm102693 1 153660154 [G/C] NM_000906 NPR1 EXON Missense_P713A exm1715720 1 153660625 [A/G] NM_000906 NPR1 EXON Missense_R782Q exm102727 1 153662340 [A/G] NM_000906 NPR1 EXON Missense_R939Q exm102732 1 153662423 [A/G] NM_000906 NPR1 EXON Missense_E967K exm102740 1 153665650 [T/C] NM_000906 NPR1 EXON Missense_L1034F rs6427005 1 153678097 [T/G] rs6427085 1 153687227 [A/C] exm2268764 1 153688250 [T/G] rs7550138 1 153690013 [T/G] rs7552428 1 153696665 [A/G] rs6427268 1 153720690 [A/G] NM_023015,NM_001324475 INTS3,INTS3 Silent,Silent exm102789 1 153733358 [C/G] NM_023015,NM_001324475 INTS3,INTS3 EXON Missense_S458C,Missense_S458C exm2249962 1 153737199 [T/C] NM_023015,NM_001324475 INTS3,INTS3 EXON Synonymous_Y653Y,Synonymous_Y653Y exm102808 1 153737199 [T/C] NM_023015,NM_001324475 INTS3,INTS3 EXON Synonymous_Y653Y,Synonymous_Y653Y exm102846 1 153744881 [A/G] NM_023015,NM_001324475 INTS3,INTS3 EXON Missense_N929S,Missense_N929S exm102877 1 153747981 [T/C] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_A3V,Silent,Missense_A3V exm102893 1 153748242 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_R90H,Silent,Missense_R90H exm102895 1 153748325 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_D118N,Silent,Missense_D118N exm102911 1 153749062 [C/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_G246R,Silent,Missense_G246R exm102912 1 153749065 [T/C] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_P247S,Silent,Missense_P247S exm2231348 1 153749538 [T/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_G293V,Silent,Missense_G293V exm102917 1 153749555 [T/C] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_R299W,Silent,Missense_R299W exm102931 1 153750267 [T/C] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_S356L,Silent,Missense_S356L exm102935 1 153750317 [T/C] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Nonsense_Q373X,Silent,Nonsense_Q373X exm102937 1 153750324 [T/C] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_I375T,Silent,Missense_I375T exm102938 1 153750338 [T/C] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Nonsense_R380X,Silent,Nonsense_R380X exm1715821 1 153750339 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_R380Q,Silent,Missense_R380Q exm102940 1 153750360 [T/C] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_P387L,Silent,Missense_P387L exm102941 1 153750361 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Synonymous_P387P,Silent,Synonymous_P387P exm102943 1 153750650 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_R392H,Silent,Missense_R392H exm102945 1 153750664 [T/C] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_R397W,Silent,Missense_R397W exm1715824 1 153750665 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_R397Q,Silent,Missense_R397Q exm102948 1 153750682 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_G403R,Silent,Missense_G403R exm102949 1 153750689 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_R405H,Silent,Missense_R405H exm102954 1 153750719 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_R415H,Silent,Missense_R415H exm102960 1 153750769 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_V432M,Silent,Missense_V432M exm102965 1 153750802 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_A443T,Silent,Missense_A443T exm102966 1 153750812 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_R446H,Silent,Missense_R446H exm102973 1 153750993 [T/C] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_R471W,Silent,Missense_R471W exm102974 1 153750994 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_R471Q,Silent,Missense_R471Q exm102979 1 153751247 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_K511R,Silent,Missense_K511R exm102981 1 153751267 [T/C] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_R518W,Silent,Missense_R518W exm2273695 1 153751311 [G/C] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_C532W,Silent,Missense_C532W exm102986 1 153751312 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_D533N,Silent,Missense_D533N variant.6903 1 153751321 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_G536S,Silent,Missense_G536S exm102987 1 153751331 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_R539H,Silent,Missense_R539H exm2249964 1 153751635 [T/C] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Synonymous_F564F,Silent,Synonymous_F564F exm102996 1 153751635 [T/C] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Synonymous_F564F,Silent,Synonymous_F564F exm103010 1 153751831 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_R586K,Silent,Missense_R586K exm103016 1 153751917 [T/C] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_P615S,Silent,Missense_P615S exm103017 1 153751926 [T/C] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_R618W,Silent,Missense_R618W exm103018 1 153751927 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_R618Q,Silent,Missense_R618Q exm103027 1 153752365 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Silent,Silent,Missense_D647N exm103033 1 153752441 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_R637Q,Silent,Missense_R672Q exm103034 1 153752449 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_A640T,Silent,Missense_A675T exm103035 1 153752471 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_R647Q,Silent,Missense_R682Q exm103036 1 153752478 [A/G] NM_001317929,NR_145826,NM_024330 SLC27A3,SLC27A3,SLC27A3 EXON Missense_X649W,Silent,Missense_X684W exm-rs4434872 1 153774276 [T/C] rs1139620 1 153777848 [T/C] NM_020699 GATAD2B EXON Silent rs1127091 1 153779412 [A/G] NM_020699 GATAD2B EXON Silent variant.6908 1 153782721 [A/G] NM_020699 GATAD2B EXON Nonsense_Q572X variant.6909 1 153782724 [A/G] NM_020699 GATAD2B EXON Nonsense_R571X exm103044 1 153784559 [A/G] NM_020699 GATAD2B EXON Missense_A490V exm103053 1 153785916 [C/G] NM_020699 GATAD2B EXON Missense_A410G exm103061 1 153789031 [T/C] NM_020699 GATAD2B EXON Missense_T312A variant.6910 1 153789848 [T/C] NM_020699 GATAD2B EXON Synonymous_P300P exm103072 1 153790569 [G/C] NM_020699 GATAD2B EXON Missense_P226A exm103078 1 153792132 [T/C] NM_020699 GATAD2B EXON Missense_S139G rs6690242 1 153801098 [T/C] NM_020699 GATAD2B Silent rs11264446 1 153805735 [T/C] NM_020699 GATAD2B Silent rs10494303 1 153893023 [A/G] NM_020699 GATAD2B Silent exm103120 1 153904891 [T/C] NM_014856 DENND4B EXON Missense_G1262E exm103134 1 153905707 [T/A] NM_014856 DENND4B EXON Missense_D1140V exm103136 1 153905788 [A/G] NM_014856 DENND4B EXON Missense_A1113V exm103137 1 153905981 [T/C] NM_014856 DENND4B EXON Missense_R1103H exm103138 1 153905982 [A/G] NM_014856 DENND4B EXON Missense_R1103C exm103145 1 153906179 [T/C] NM_014856 DENND4B EXON Missense_S1037N exm103149 1 153906683 [A/G] NM_014856 DENND4B EXON Missense_R957C exm103150 1 153906715 [T/C] NM_014856 DENND4B EXON Missense_R946Q exm103151 1 153906724 [G/C] NM_014856 DENND4B EXON Missense_W943S exm103155 1 153907287 [C/G] NM_014856 DENND4B EXON Missense_Q908E exm103186 1 153910011 [A/G] NM_014856 DENND4B EXON Missense_P729S exm103195 1 153912211 [T/C] NM_014856 DENND4B EXON Missense_R558H exm103227 1 153914514 [T/C] NM_014856 DENND4B EXON Missense_G296S exm1715922 1 153914770 [T/C] NM_014856 DENND4B EXON Missense_V235I exm103255 1 153915553 [A/G] NM_014856 DENND4B EXON Missense_T124M exm103266 1 153916772 [T/C] NM_014856 DENND4B EXON Missense_E27K exm103281 1 153920692 [A/G] NM_181715 CRTC2 EXON Missense_R659C exm103282 1 153920715 [T/C] NM_181715 CRTC2 EXON Missense_G651E exm1715933 1 153921054 [T/C] NM_181715 CRTC2 EXON Missense_G581R exm103290 1 153921085 [C/G] NM_181715 CRTC2 EXON Missense_S570R exm1715934 1 153921613 [T/A] NM_181715 CRTC2 EXON Missense_M551K exm103296 1 153921721 [G/C] NM_181715 CRTC2 EXON Missense_C515S rs10127983 1 153923276 [T/C] NM_181715 CRTC2 Silent exm1715944 1 153924005 [A/G] NM_181715 CRTC2 EXON Missense_R379C exm103359 1 153930951 [T/C] NM_181715 CRTC2 EXON Missense_G8E exm103365 1 153932719 [C/G] NM_001271957,NM_014437,NM_001271960,NM_001271959,NM_001271961,NM_001271958 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Missense_G277A,Missense_G277A,Missense_G277A,Missense_G277A,Silent,Missense_G277A exm103372 1 153932809 [A/G] NM_001271957,NM_014437,NM_001271960,NM_001271959,NM_001271961,NM_001271958 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Missense_S247L,Missense_S247L,Missense_S247L,Missense_S247L,Silent,Missense_S247L exm103376 1 153932932 [T/C] NM_001271957,NM_014437,NM_001271960,NM_001271959,NM_001271961,NM_001271958 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Missense_R206Q,Missense_R206Q,Missense_R206Q,Missense_R206Q,Silent,Missense_R206Q exm103378 1 153932965 [T/C] NM_001271957,NM_014437,NM_001271960,NM_001271959,NM_001271961,NM_001271958 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Missense_G195E,Missense_G195E,Missense_G195E,Missense_G195E,Silent,Missense_G195E exm2249965 1 153934786 [A/C] NM_001271957,NM_014437,NM_001271960,NM_001271959,NM_001271961,NM_001271958 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Synonymous_A76A,Synonymous_A76A,Synonymous_A76A,Synonymous_A76A,Silent,Synonymous_A76A exm103395 1 153934820 [T/C] NM_001271957,NM_014437,NM_001271960,NM_001271959,NM_001271961,NM_001271958 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Missense_R65H,Missense_R65H,Missense_R65H,Missense_R65H,Silent,Missense_R65H rs2072704 1 153935543 [A/G] NM_001271957,NM_014437,NM_001271960,NM_001271959,NM_001271961,NM_001271958 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm103404 1 153940996 [A/C] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 Silent,Silent,Silent,Silent,Silent,Silent exm103406 1 153941005 [A/G] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_D2N,Missense_D2N,Missense_D2N,Silent,Missense_D2N,Missense_D2N exm103409 1 153941030 [A/G] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_D10G,Missense_D10G,Missense_D10G,Silent,Missense_D10G,Missense_D10G exm103412 1 153941105 [T/C] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_P35L,Missense_P35L,Missense_P35L,Silent,Missense_P35L,Missense_P35L variant.6919 1 153941405 [T/G] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 Silent,Silent,Silent,Silent,Silent,Silent exm103415 1 153941448 [T/A] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_I73F,Missense_I73F,Missense_I53F,Silent,Missense_I53F,Missense_I73F exm103420 1 153941506 [A/C] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_S92Y,Missense_S92Y,Missense_S72Y,Silent,Missense_S72Y,Missense_S92Y exm103421 1 153941514 [T/C] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_P95S,Missense_P95S,Missense_P75S,Silent,Missense_P75S,Missense_P95S exm103423 1 153941536 [T/C] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_P102L,Missense_P102L,Missense_P82L,Silent,Missense_P82L,Missense_P102L exm103425 1 153941563 [T/C] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_M111T,Missense_M111T,Missense_M91T,Silent,Missense_M91T,Missense_M111T exm103428 1 153941602 [A/G] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_R124K,Missense_R124K,Missense_R104K,Silent,Missense_R104K,Missense_R124K exm103438 1 153941931 [A/G] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Synonymous_L181L,Synonymous_L181L,Synonymous_L161L,Silent,Synonymous_L161L,Synonymous_L181L exm103445 1 153945502 [A/G] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_A231T,Missense_A231T,Missense_A211T,Silent,Missense_A211T,Missense_A231T exm103453 1 153945722 [C/G] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_E265D,Missense_E265D,Missense_E245D,Silent,Missense_E245D,Missense_E265D exm103455 1 153945876 [A/G] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_R278H,Missense_R278H,Missense_R258H,Silent,Missense_R258H,Missense_R278H exm103465 1 153946189 [C/G] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_G331R,Missense_G331R,Missense_G311R,Silent,Missense_G311R,Missense_G331R exm1716002 1 153946380 [A/G] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_V343I,Missense_V343I,Missense_V323I,Silent,Missense_V323I,Missense_V343I exm103468 1 153946404 [C/G] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_V351L,Missense_V351L,Missense_V331L,Silent,Missense_V331L,Missense_V351L exm103471 1 153946450 [A/G] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_N366S,Missense_N366S,Missense_N346S,Silent,Missense_N346S,Missense_N366S exm103472 1 153946473 [A/G] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_E374K,Missense_E374K,Missense_E354K,Silent,Missense_E354K,Missense_E374K exm103473 1 153946503 [A/G] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_G384R,Missense_G384R,Missense_G364R,Silent,Missense_G364R,Missense_G384R exm103476 1 153946513 [A/G] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_R387Q,Missense_R387Q,Missense_R367Q,Silent,Missense_R367Q,Missense_R387Q exm103477 1 153946515 [T/A] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_S388T,Missense_S388T,Missense_S368T,Silent,Missense_S368T,Missense_S388T exm103478 1 153946518 [A/G] NM_130898,NM_001255978,NM_001255980,NR_045658,NM_001255981,NM_001255979 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_V389M,Missense_V389M,Missense_V369M,Silent,Missense_V369M,Missense_V389M exm103486 1 153947306 [T/C] NM_006694 JTB EXON Missense_R97H exm103490 1 153948338 [A/C] NM_006694 JTB EXON Missense_I83S exm103491 1 153948363 [T/C] NM_006694 JTB EXON Missense_G75S indel.6922 1 153949211 [I/D] NM_006694 JTB EXON exm103500 1 153949683 [A/G] NM_006694 JTB EXON Missense_L16F exm103508 1 153954646 [T/C] NM_002870,NR_073553,NM_001272038 RAB13,RAB13,RAB13 EXON Missense_G181S,Silent,Missense_G100S exm103522 1 153955054 [T/C] NM_002870,NR_073553,NM_001272038 RAB13,RAB13,RAB13 EXON Missense_R146Q,Silent,Missense_R65Q exm103524 1 153955069 [T/C] NM_002870,NR_073553,NM_001272038 RAB13,RAB13,RAB13 EXON Missense_R141Q,Silent,Missense_R60Q variant.6924 1 153955695 [T/C] NM_002870,NR_073553,NM_001272038 RAB13,RAB13,RAB13 EXON Synonymous_E108E,Silent,Synonymous_E27E exm103535 1 153957201 [T/C] NM_002870,NR_073553,NM_001272038 RAB13,RAB13,RAB13 EXON Missense_V61I,Silent,Silent exm2231358 1 153958618 [T/C] NM_002870,NR_073553 RAB13,RAB13 EXON Missense_N32S,Silent exm103541 1 153963239 [T/C] NM_001349947,NM_001349946,NM_001030 RPS27,RPS27,RPS27 EXON Silent,Silent,Silent exm103566 1 153964542 [T/A] NM_001349947,NM_001349946,NM_001030 RPS27,RPS27,RPS27 EXON Synonymous_G44G,Synonymous_G44G,Synonymous_G76G exm103568 1 153965322 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_I1734V,Missense_I1886V indel.6925 1 153965382 [I/D] NM_001159484,NM_207308 NUP210L,NUP210L EXON exm103578 1 153967569 [A/G] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_T1673I,Missense_T1825I variant.6926 1 153973331 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L Silent,Silent exm103592 1 153973445 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Silent,Missense_N1758S exm103594 1 153973494 [T/G] NM_001159484,NM_207308 NUP210L,NUP210L EXON Silent,Missense_H1742N exm103601 1 153982536 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_M1614I,Missense_M1614I exm103605 1 153984776 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_N1575S,Missense_N1575S 1KG_1_153984801 1 153984801 [D/I] NM_001159484,NM_207308 NUP210L,NUP210L EXON rs12048137 1 153992734 [T/G] NM_001159484,NM_207308 NUP210L,NUP210L Silent,Silent exm103616 1 153994647 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_V1491I,Missense_V1491I rs11264875 1 153994647 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_V1491I,Missense_V1491I exm103625 1 153998032 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_I1370V,Missense_I1370V exm103627 1 153998128 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_E1338K,Missense_E1338K exm103628 1 153998176 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_V1322M,Missense_V1322M exm103635 1 154002437 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_M1264V,Missense_M1264V exm103637 1 154018621 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_N1207S,Missense_N1207S exm103638 1 154018655 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_V1196I,Missense_V1196I variant.6927 1 154018665 [A/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Nonsense_Y1192X,Nonsense_Y1192X exm103643 1 154018835 [T/G] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_Q1165P,Missense_Q1165P rs3001365 1 154019182 [A/C] NM_001159484,NM_207308 NUP210L,NUP210L Silent,Silent variant.6928 1 154026699 [A/G] NM_001159484,NM_207308 NUP210L,NUP210L Silent,Silent exm103650 1 154026847 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_V1114I,Missense_V1114I variant.6929 1 154029286 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L Silent,Silent exm103665 1 154031134 [A/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_E962D,Missense_E962D exm103670 1 154033471 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_D899N,Missense_D899N exm103672 1 154033488 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_E893G,Missense_E893G exm103689 1 154061982 [T/G] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_H759P,Missense_H759P exm2273696 1 154067577 [A/G] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_V674A,Missense_V674A indel.6931 1 154072561 [I/D] NM_001159484,NM_207308 NUP210L,NUP210L EXON exm103704 1 154072601 [A/G] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_P613L,Missense_P613L exm103705 1 154076490 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_E606G,Missense_E606G exm103714 1 154076659 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_E550K,Missense_E550K exm103715 1 154090238 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_R528Q,Missense_R528Q exm103720 1 154091155 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_K486E,Missense_K486E exm103721 1 154091208 [A/G] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_T468I,Missense_T468I exm103723 1 154091244 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_Q456R,Missense_Q456R exm2259810 1 154093825 [A/G] NM_001159484,NM_207308 NUP210L,NUP210L Silent,Silent var_1_154098798 1 154098798 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L Silent,Silent variant.6933 1 154099870 [A/G] NM_001159484,NM_207308 NUP210L,NUP210L EXON Nonsense_R368X,Nonsense_R368X exm103741 1 154110654 [A/G] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_H260Y,Missense_H260Y exm103743 1 154110692 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_R247H,Missense_R247H variant.6936 1 154113950 [A/G] NM_001159484,NM_207308 NUP210L,NUP210L EXON Nonsense_Q175X,Nonsense_Q175X exm103752 1 154113953 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_A174T,Missense_A174T exm2249967 1 154115992 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Synonymous_V134V,Synonymous_V134V rs12091348 1 154116872 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L Silent,Silent rs4521985 1 154123523 [A/G] NM_001159484,NM_207308 NUP210L,NUP210L Silent,Silent exm103759 1 154125244 [T/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_R103H,Missense_R103H exm103763 1 154125299 [A/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_G85C,Missense_G85C exm103769 1 154127427 [A/G] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_R32C,Missense_R32C exm2249968 1 154127482 [A/G] NM_001159484,NM_207308 NUP210L,NUP210L EXON Synonymous_F13F,Synonymous_F13F exm103773 1 154127509 [A/C] NM_001159484,NM_207308 NUP210L,NUP210L EXON Missense_C4W,Missense_C4W variant.6938 1 154131501 [A/G] NR_103461,NM_153649,NM_001364681,NM_001364679,NM_001364680,NM_001043352,NM_001278189,NM_001278188,NM_001349679,NM_001278191,NM_001043353,NM_001043351,NM_001278190 TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3 EXON Silent,Silent,Nonsense_R267X,Silent,Silent,Nonsense_R230X,Silent,Silent,Silent,Silent,Nonsense_R230X,Silent,Silent exm103788 1 154143165 [T/A] NR_103461,NM_153649,NM_001364681,NM_001364679,NM_001364680,NM_001043352,NM_001278189,NM_001278188,NM_001349679,NM_001278191,NM_001043353,NM_001043351,NM_001278190,NM_001364683,NM_001364682,NM_152263 TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3 EXON Silent,Missense_Y185F,Missense_Y222F,Missense_Y222F,Missense_Y222F,Missense_Y185F,Missense_Y185F,Missense_Y119F,Missense_Y185F,Missense_Y95F,Missense_Y185F,Missense_Y185F,Silent,Missense_Y185F,Missense_Y222F,Missense_Y222F exm103798 1 154144579 [A/G] NR_103461,NM_153649,NM_001364681,NM_001364679,NM_001364680,NM_001043352,NM_001278189,NM_001278188,NM_001349679,NM_001278191,NM_001043353,NM_001043351,NM_001278190,NM_001364683,NM_001364682,NM_152263 TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3 EXON Silent,Missense_R153C,Silent,Silent,Missense_R190C,Missense_R153C,Missense_R153C,Missense_R87C,Silent,Silent,Silent,Silent,Missense_R153C,Missense_R153C,Missense_R190C,Silent var_1_154145403 1 154145403 [A/G] NR_103461,NM_153649,NM_001364681,NM_001364679,NM_001364680,NM_001043352,NM_001278189,NM_001278188,NM_001349679,NM_001278191,NM_001043353,NM_001043351,NM_001278190,NM_001364683,NM_001364682,NM_152263 TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3 EXON Silent,Nonsense_R146X,Nonsense_R183X,Nonsense_R183X,Nonsense_R183X,Nonsense_R146X,Nonsense_R146X,Nonsense_R80X,Nonsense_R146X,Nonsense_R56X,Nonsense_R146X,Nonsense_R146X,Nonsense_R146X,Nonsense_R146X,Nonsense_R183X,Nonsense_R183X rs11265238 1 154149767 [T/C] NR_103461,NM_153649,NM_001364681,NM_001364679,NM_001364680,NM_001043352,NM_001278189,NM_001278188,NM_001349679,NM_001278191,NM_001043353,NM_001043351,NM_001278190,NM_001364683,NM_001364682,NM_152263 TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm103808 1 154155480 [T/C] NR_103461,NM_153649,NM_001364681,NM_001364679,NM_001364680,NM_001043352,NM_001278189,NM_001278188,NM_001349679,NM_001043353,NM_001043351,NM_001278190,NM_001364683,NM_001364682,NM_152263 TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3,TPM3 EXON Silent,Missense_R39K,Silent,Silent,Silent,Missense_R39K,Missense_R39K,Missense_G18S,Missense_R39K,Missense_R39K,Missense_R39K,Missense_R39K,Missense_R39K,Silent,Silent indel.6940 1 154164373 [I/D] NM_001364681,NM_001364679,NM_001364680,NM_001364682,NM_152263,NR_103460 TPM3,TPM3,TPM3,TPM3,TPM3,TPM3 exm103813 1 154164403 [T/G] NM_001364681,NM_001364679,NM_001364680,NM_001364682,NM_152263,NR_103460 TPM3,TPM3,TPM3,TPM3,TPM3,TPM3 EXON Missense_K31T,Missense_K31T,Missense_K31T,Missense_K31T,Missense_K31T,Silent variant.6941 1 154171918 [A/C] NM_001010979 C1orf189 EXON Nonsense_Y97X exm103826 1 154173005 [A/G] NM_001010979 C1orf189 EXON Missense_P45L exm103827 1 154173059 [T/C] NM_001010979 C1orf189 EXON Missense_R27Q variant.6943 1 154173060 [A/G] NM_001010979 C1orf189 EXON Nonsense_R27X exm103831 1 154178081 [T/C] NM_001010979 C1orf189 EXON Missense_V23I exm1716156 1 154178115 [C/G] NM_001010979 C1orf189 Silent rs6719 1 154179679 [T/C] NM_001297717,NM_001297718,NM_001098616,NM_001297720,NM_138740,NM_015449 C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43 EXON Silent,Silent,Silent,Silent,Silent,Silent exm1716162 1 154184830 [A/G] NM_001297717,NM_001297718,NM_001098616,NM_001297720,NM_138740,NM_015449,NM_001297721,NM_001297723 C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43 EXON Silent,Missense_R143C,Missense_R178C,Missense_R160C,Missense_R126C,Missense_R144C,Missense_R144C,Missense_R178C exm103849 1 154184993 [A/G] NM_001297717,NM_001297718,NM_001098616,NM_001297720,NM_138740,NM_015449,NM_001297721,NM_001297723 C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43 EXON Missense_R132C,Missense_R115C,Missense_R150C,Missense_R132C,Missense_R98C,Missense_R116C,Missense_R116C,Missense_R150C exm103851 1 154185037 [T/C] NM_001297717,NM_001297718,NM_001098616,NM_001297720,NM_138740,NM_015449,NM_001297721,NM_001297723 C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43 EXON Missense_Y117C,Missense_Y100C,Missense_Y135C,Missense_Y117C,Missense_Y83C,Missense_Y101C,Missense_Y101C,Missense_Y135C variant.6947 1 154186928 [A/C] NM_001297717,NM_001297718,NM_001098616,NM_001297720,NM_138740,NM_015449,NM_001297721,NM_001297723 C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm103863 1 154187028 [A/G] NM_001297717,NM_001297718,NM_001098616,NM_001297720,NM_138740,NM_015449,NM_001297721,NM_001297723 C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43 EXON Missense_I64T,Missense_I29T,Missense_I64T,Missense_I64T,Missense_I30T,Missense_I30T,Missense_I30T,Missense_I64T indel.6948 1 154192392 [I/D] NM_001297717,NM_001297718,NM_001098616,NM_001297720,NM_138740,NM_015449,NM_001297721,NM_001297723 C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43,C1orf43 EXON exm2231368 1 154209611 [A/G] NM_001127320,NM_001330730,NM_001287815,NM_001287816,NM_014847 UBAP2L,UBAP2L,UBAP2L,UBAP2L,UBAP2L EXON Synonymous_T234T,Synonymous_T245T,Synonymous_T227T,Synonymous_T245T,Synonymous_T234T exm103901 1 154218706 [A/C] NM_001127320,NM_001330730,NM_001287815,NM_001287816,NM_014847 UBAP2L,UBAP2L,UBAP2L,UBAP2L,UBAP2L EXON Missense_K290T,Missense_K301T,Missense_K283T,Missense_K301T,Missense_K290T exm103909 1 154223544 [T/C] NM_001127320,NM_001330730,NM_001287815,NM_001287816,NM_014847 UBAP2L,UBAP2L,UBAP2L,UBAP2L,UBAP2L EXON Missense_V414A,Missense_V425A,Missense_V407A,Missense_V425A,Missense_V414A exm103911 1 154223634 [A/C] NM_001127320,NM_001330730,NM_001287815,NM_001287816,NM_014847 UBAP2L,UBAP2L,UBAP2L,UBAP2L,UBAP2L EXON Missense_T444N,Missense_T455N,Missense_T437N,Missense_T455N,Missense_T444N exm103912 1 154223658 [T/C] NM_001127320,NM_001330730,NM_001287815,NM_001287816,NM_014847 UBAP2L,UBAP2L,UBAP2L,UBAP2L,UBAP2L EXON Missense_P452L,Missense_P463L,Missense_P445L,Missense_P463L,Missense_P452L exm2231371 1 154226410 [A/C] NM_001127320,NM_001330730,NM_001287815,NM_001287816,NM_014847 UBAP2L,UBAP2L,UBAP2L,UBAP2L,UBAP2L EXON Missense_Q567K,Missense_Q578K,Missense_Q560K,Missense_Q578K,Missense_Q567K exm103930 1 154226521 [A/G] NM_001127320,NM_001330730,NM_001287815,NM_001287816,NM_014847 UBAP2L,UBAP2L,UBAP2L,UBAP2L,UBAP2L EXON Missense_S604G,Missense_S615G,Missense_S597G,Missense_S615G,Missense_S604G exm1716219 1 154227639 [T/C] NM_001127320,NM_001330730,NM_001287815,NM_001287816,NM_014847 UBAP2L,UBAP2L,UBAP2L,UBAP2L,UBAP2L EXON Missense_S641P,Missense_S652P,Missense_S634P,Missense_S652P,Missense_S641P exm103938 1 154227643 [T/C] NM_001127320,NM_001330730,NM_001287815,NM_001287816,NM_014847 UBAP2L,UBAP2L,UBAP2L,UBAP2L,UBAP2L EXON Missense_A642V,Missense_A653V,Missense_A635V,Missense_A653V,Missense_A642V variant.6950 1 154229946 [T/G] NM_001127320,NM_001330730,NM_001287815,NM_001287816,NM_014847 UBAP2L,UBAP2L,UBAP2L,UBAP2L,UBAP2L Silent,Silent,Silent,Silent,Silent exm2249969 1 154231461 [A/G] NM_001127320,NM_001330730,NM_001287815,NM_001287816,NM_014847 UBAP2L,UBAP2L,UBAP2L,UBAP2L,UBAP2L EXON Synonymous_V817V,Synonymous_V828V,Synonymous_V810V,Synonymous_V828V,Synonymous_V817V exm2231372 1 154234110 [A/G] NM_001127320,NM_001330730,NM_001287815,NM_001287816,NM_014847 UBAP2L,UBAP2L,UBAP2L,UBAP2L,UBAP2L EXON Missense_V947M,Missense_V958M,Missense_V940M,Missense_V958M,Missense_V947M rs1212352 1 154239283 [A/T] NM_001330730,NM_001287816,NM_014847 UBAP2L,UBAP2L,UBAP2L Silent,Silent,Silent rs1044013 1 154243115 [T/C] NM_001330730,NM_001287816,NM_014847 UBAP2L,UBAP2L,UBAP2L EXON Silent,Silent,Silent rs1194594 1 154244854 [A/G] rs11265425 1 154245142 [T/G] NM_001018837,NM_006118 HAX1,HAX1 EXON Silent,Silent exm104008 1 154245214 [A/T] NM_001018837,NM_006118 HAX1,HAX1 EXON Missense_D5E,Missense_D5E exm104015 1 154245867 [G/C] NM_001018837,NM_006118 HAX1,HAX1 EXON Silent,Missense_E37Q exm104020 1 154245918 [C/G] NM_001018837,NM_006118 HAX1,HAX1 EXON Silent,Missense_P54A exm104021 1 154245928 [T/C] NM_001018837,NM_006118 HAX1,HAX1 EXON Silent,Missense_P57L exm1716245 1 154247435 [A/G] NM_001018837,NM_006118 HAX1,HAX1 EXON Missense_V124I,Missense_V172I newrs149409924 1 154247447 [A/G] NM_001018837,NM_006118 HAX1,HAX1 EXON Missense_D128N,Missense_D176N indel.6957 1 154247622 [I/D] NM_001018837,NM_006118 HAX1,HAX1 exm104042 1 154247666 [T/C] NM_001018837,NM_006118 HAX1,HAX1 EXON Missense_P150L,Missense_P198L variant.6958 1 154247929 [T/C] NM_001018837,NM_006118 HAX1,HAX1 EXON Nonsense_R194X,Nonsense_R242X exm2231373 1 154247930 [A/G] NM_001018837,NM_006118 HAX1,HAX1 EXON Missense_R194Q,Missense_R242Q exm104052 1 154247935 [A/G] NM_001018837,NM_006118 HAX1,HAX1 EXON Missense_E196K,Missense_E244K exm104058 1 154248166 [T/C] NM_001018837,NM_006118 HAX1,HAX1 EXON Missense_R229W,Missense_R277W rs7521837 1 154252860 [T/C] rs1685633 1 154291718 [A/G] rs1194607 1 154294656 [T/C] NM_080429 AQP10 Silent variant.6960 1 154295457 [A/G] NM_080429 AQP10 Silent exm104078 1 154295592 [T/C] NM_080429 AQP10 EXON Missense_H123Y exm104079 1 154295594 [T/C] NM_080429 AQP10 EXON Synonymous_H123H rs1194610 1 154296076 [T/C] NM_080429 AQP10 EXON Synonymous_T167T exm104092 1 154296774 [T/G] NM_080429 AQP10 EXON Missense_W242G exm104113 1 154302929 [T/C] NM_001005855,NM_020452 ATP8B2,ATP8B2 EXON Missense_A30V,Missense_A63V exm104118 1 154303345 [T/C] NM_001005855,NM_020452 ATP8B2,ATP8B2 EXON Missense_L49F,Missense_L82F exm104128 1 154303963 [A/G] NM_001005855,NM_020452 ATP8B2,ATP8B2 EXON Missense_Q116R,Missense_Q149R rs6702754 1 154303976 [T/C] NM_001005855,NM_020452 ATP8B2,ATP8B2 EXON Synonymous_N120N,Synonymous_N153N rs11586379 1 154307630 [T/C] NM_001005855,NM_020452 ATP8B2,ATP8B2 Silent,Silent rs2988721 1 154308641 [A/C] NM_001005855,NM_020452 ATP8B2,ATP8B2 Silent,Silent exm104144 1 154309887 [A/G] NM_001005855,NM_020452 ATP8B2,ATP8B2 EXON Missense_E301K,Missense_E334K exm104165 1 154315748 [A/G] NM_020452 ATP8B2 EXON Missense_N571S exm104175 1 154316371 [T/G] NM_020452 ATP8B2 EXON Missense_E620D exm104176 1 154316373 [A/G] NM_020452 ATP8B2 EXON Missense_Y621C exm104181 1 154316453 [T/C] NM_020452 ATP8B2 EXON Missense_R648C exm2249970 1 154317123 [T/C] NM_020452 ATP8B2 EXON Synonymous_A749A exm104197 1 154317149 [A/G] NM_020452 ATP8B2 EXON Missense_R758H exm104199 1 154317170 [T/C] NM_020452 ATP8B2 EXON Missense_T765I exm104200 1 154317197 [A/G] NM_020452 ATP8B2 EXON Missense_K774R exm104206 1 154317489 [A/G] NM_020452 ATP8B2 EXON Missense_T810A exm104218 1 154318761 [A/C] NM_020452 ATP8B2 EXON Missense_L978M exm104228 1 154319204 [G/C] NM_020452 ATP8B2 EXON Missense_D1078H exm104241 1 154321009 [A/G] NM_020452 ATP8B2 EXON Missense_D1130N exm104246 1 154321382 [T/C] NM_020452 ATP8B2 EXON Missense_R1154C exm104247 1 154321391 [T/C] NM_020452 ATP8B2 EXON Missense_S1157P exm104258 1 154321551 [T/C] NM_020452 ATP8B2 EXON Missense_A1210V rs4040747 1 154326279 [T/G] rs6696089 1 154332870 [A/G] rs4406622 1 154346416 [A/G] rs3811451 1 154350589 [T/C] rs11582424 1 154363985 [A/C] rs952146 1 154368928 [A/G] rs17654071 1 154369252 [A/G] exm2268765 1 154400015 [T/G] NM_000565,NM_181359,NM_001206866 IL6R,IL6R,IL6R Silent,Silent,Silent exm104278 1 154401780 [T/C] NM_000565,NM_181359,NM_001206866 IL6R,IL6R,IL6R EXON Missense_P65L,Missense_P65L,Missense_P65L exm104281 1 154401825 [T/G] NM_000565,NM_181359,NM_001206866 IL6R,IL6R,IL6R EXON Missense_R80M,Missense_R80M,Missense_R80M exm104283 1 154401858 [T/C] NM_000565,NM_181359,NM_001206866 IL6R,IL6R,IL6R EXON Missense_S91F,Missense_S91F,Missense_S91F rs7553796 1 154404406 [A/C] NM_000565,NM_181359,NM_001206866 IL6R,IL6R,IL6R Silent,Silent,Silent exm104296 1 154407101 [A/G] NM_000565,NM_181359,NM_001206866 IL6R,IL6R,IL6R EXON Missense_I189V,Missense_I189V,Missense_I189V exm104297 1 154407110 [A/G] NM_000565,NM_181359,NM_001206866 IL6R,IL6R,IL6R EXON Missense_M192V,Missense_M192V,Missense_M192V exm104310 1 154408560 [T/C] NM_000565,NM_181359,NM_001206866 IL6R,IL6R,IL6R EXON Missense_P308L,Missense_P308L,Missense_P308L exm-rs4537545 1 154418879 [T/C] NM_000565,NM_181359 IL6R,IL6R Silent,Silent rs4537545 1 154418879 [T/C] NM_000565,NM_181359 IL6R,IL6R Silent,Silent exm-rs4845625 1 154422067 [T/C] NM_000565,NM_181359 IL6R,IL6R Silent,Silent exm-rs4129267 1 154426264 [T/C] NM_000565,NM_181359 IL6R,IL6R Silent,Silent exm104320 1 154426970 [A/C] NM_000565,NM_181359 IL6R,IL6R EXON Missense_D358A,Silent exm104324 1 154427050 [A/G] NM_000565,NM_181359 IL6R,IL6R EXON Missense_V385I,Silent rs4240872 1 154436195 [T/C] NM_000565,NM_181359 IL6R,IL6R Silent,Silent exm104332 1 154437632 [T/C] NM_000565,NM_181359 IL6R,IL6R EXON Missense_R395W,Synonymous_C363C exm104344 1 154437801 [C/G] NM_000565,NM_181359 IL6R,IL6R EXON Missense_R451T,Silent rs2229238 1 154437896 [T/C] NM_000565,NM_181359 IL6R,IL6R EXON Silent,Silent rs7514452 1 154438084 [T/C] NM_000565,NM_181359 IL6R,IL6R EXON Silent,Silent rs4474240 1 154457855 [A/C] NM_001010846,NR_135169 SHE,SHE Silent,Silent exm2249972 1 154458442 [A/G] NM_001010846,NR_135169 SHE,SHE EXON Synonymous_N426N,Silent exm104356 1 154458497 [T/C] NM_001010846,NR_135169 SHE,SHE EXON Missense_R408Q,Silent exm104360 1 154459057 [A/G] NM_001010846,NR_135169 SHE,SHE EXON Missense_S376L,Silent exm1716403 1 154459120 [T/G] NM_001010846,NR_135169 SHE,SHE EXON Missense_E355A,Silent exm104368 1 154461587 [T/C] NM_001010846,NR_135169 SHE,SHE EXON Missense_A322T,Silent exm104393 1 154473961 [A/G] NM_001010846,NR_135169 SHE,SHE EXON Missense_S181F,Silent exm104400 1 154474189 [C/G] NM_001010846,NR_135169 SHE,SHE EXON Missense_R105P,Silent rs5018567 1 154480318 [T/C] NM_182499,NM_001098475 TDRD10,TDRD10 Silent,Silent exm104412 1 154493878 [T/C] NM_182499,NM_001098475 TDRD10,TDRD10 EXON Nonsense_R98X,Nonsense_R98X indel.6976 1 154493907 [D/I] NM_182499,NM_001098475 TDRD10,TDRD10 EXON exm104419 1 154493930 [T/C] NM_182499,NM_001098475 TDRD10,TDRD10 EXON Missense_M115T,Missense_M115T exm104424 1 154514541 [T/C] NM_182499,NM_001098475 TDRD10,TDRD10 EXON Synonymous_A137A,Synonymous_A137A exm104434 1 154516477 [A/G] NM_182499,NM_001098475 TDRD10,TDRD10 EXON Missense_R181Q,Missense_R181Q exm104435 1 154516509 [A/G] NM_182499,NM_001098475 TDRD10,TDRD10 EXON Missense_V192I,Missense_V192I rs6678164 1 154516571 [T/C] NM_182499,NM_001098475 TDRD10,TDRD10 EXON Synonymous_A212A,Synonymous_A212A exm104441 1 154516578 [A/G] NM_182499,NM_001098475 TDRD10,TDRD10 EXON Missense_V215I,Missense_V215I exm104445 1 154516933 [T/C] NM_182499,NM_001098475 TDRD10,TDRD10 EXON Missense_M246T,Missense_M246T exm104449 1 154516944 [T/C] NM_182499,NM_001098475 TDRD10,TDRD10 EXON Missense_R250C,Missense_R250C exm104451 1 154516956 [T/G] NM_182499,NM_001098475 TDRD10,TDRD10 EXON Nonsense_E254X,Nonsense_E254X exm1716442 1 154516983 [A/G] NM_182499,NM_001098475 TDRD10,TDRD10 EXON Missense_A263T,Missense_A263T exm104461 1 154519909 [T/C] NM_182499,NM_001098475 TDRD10,TDRD10 EXON Missense_V326A,Missense_V326A exm104462 1 154519992 [T/C] NM_182499,NM_001098475 TDRD10,TDRD10 EXON Silent,Missense_P354S variant.6979 1 154520045 [A/G] NM_182499,NM_001098475 TDRD10,TDRD10 EXON Silent,Silent exm104501 1 154528361 [A/C] NM_017582 UBE2Q1 EXON Missense_V136G exm104505 1 154530746 [T/C] NM_017582 UBE2Q1 EXON Missense_G95E exm2259811 1 154531910 [A/G] exm104520 1 154541950 [T/C] NM_000748 CHRNB2 EXON Missense_T26M exm104523 1 154541971 [T/G] NM_000748 CHRNB2 EXON Missense_V33G exm104578 1 154548277 [C/G] NM_000748 CHRNB2 EXON Missense_R460G exm104580 1 154548331 [T/C] NM_000748 CHRNB2 EXON Missense_F478L rs3811450 1 154551032 [T/C] NM_000748 CHRNB2 EXON Silent rs11264222 1 154554357 [T/C] rs1127314 1 154556266 [A/G] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR EXON Silent,Silent,Silent,Silent,Silent exm104596 1 154557735 [T/C] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_Y1089C,Missense_Y839C,Missense_Y1134C,Missense_Y839C,Missense_Y1108C exm104604 1 154560602 [A/G] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR EXON Synonymous_N961N,Synonymous_N711N,Synonymous_N1006N,Synonymous_N711N,Synonymous_N980N variant.6985 1 154560739 [A/G] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR Silent,Silent,Silent,Silent,Silent exm104636 1 154562881 [T/C] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_V740I,Missense_V464I,Missense_V759I,Missense_V464I,Missense_V759I rs9426823 1 154568665 [A/G] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR Silent,Silent,Silent,Silent,Silent rs9427097 1 154568683 [T/G] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR Silent,Silent,Silent,Silent,Silent variant.6987 1 154570304 [T/C] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_K645R,Missense_K350R,Missense_K645R,Missense_K350R,Missense_K645R variant.6988 1 154570412 [A/G] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_F609S,Missense_F314S,Missense_F609S,Missense_F314S,Missense_F609S newrs17843866 1 154570873 [T/C] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR Silent,Silent,Silent,Silent,Silent exm104654 1 154570903 [T/C] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_Y587C,Missense_Y292C,Missense_Y587C,Missense_Y292C,Missense_Y587C rs3738032 1 154573419 [T/C] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR Silent,Silent,Silent,Silent,Silent exm104667 1 154573718 [T/C] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_R467H,Missense_R172H,Missense_R467H,Missense_R172H,Missense_R467H exm104672 1 154573967 [T/C] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_K384R,Missense_K89R,Missense_K384R,Missense_K89R,Missense_K384R exm104686 1 154574346 [T/C] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_G258R,Silent,Missense_G258R,Silent,Missense_G258R variant.6991 1 154574598 [A/G] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR EXON Nonsense_R174X,Silent,Nonsense_R174X,Silent,Nonsense_R174X exm104695 1 154574600 [T/C] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_N173S,Silent,Missense_N173S,Silent,Missense_N173S exm104699 1 154574820 [T/C] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_R100G,Silent,Missense_R100G,Silent,Missense_R100G exm104701 1 154574903 [T/C] NM_015841,NM_001193495,NM_001111,NM_001025107,NM_015840 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_R72Q,Silent,Missense_R72Q,Silent,Missense_R72Q rs2335230 1 154589628 [A/C] NM_001025107 ADAR Silent rs9426830 1 154594690 [A/G] NM_001025107 ADAR Silent rs884617 1 154600998 [A/G] rs9427114 1 154626705 [T/C] rs1876304 1 154633513 [T/G] rs7534678 1 154635448 [T/C] rs7547072 1 154639255 [T/C] rs6696760 1 154673755 [A/G] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 EXON Silent,Silent,Silent exm104734 1 154680636 [T/G] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 EXON Missense_N366T,Missense_N671T,Missense_N686T rs6695232 1 154681950 [A/G] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent exm2268766 1 154688197 [T/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs10128027 1 154691445 [T/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs7554577 1 154692883 [A/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs10494301 1 154701218 [T/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent exm104742 1 154705480 [A/G] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 EXON Missense_M225T,Missense_M530T,Missense_M545T rs10908431 1 154716883 [T/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs16836320 1 154717908 [T/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs906278 1 154718738 [T/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs4845668 1 154726242 [T/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs1553611 1 154732308 [A/G] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs6682291 1 154732776 [A/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs7513331 1 154736240 [A/G] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs4845391 1 154739104 [T/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs11808053 1 154749047 [T/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs6426929 1 154750989 [A/G] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs11264262 1 154756589 [T/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs883319 1 154758422 [T/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs11584635 1 154760965 [T/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs954785 1 154770139 [T/G] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs12737434 1 154772089 [A/G] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs6699284 1 154774916 [A/G] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs4845673 1 154793296 [T/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs12029542 1 154794897 [A/G] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs11264268 1 154796520 [A/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs6681392 1 154796712 [T/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs1218578 1 154810030 [A/G] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs6666258 1 154814268 [G/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent exm-rs13376333 1 154814353 [T/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs6666891 1 154814917 [A/G] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs1218565 1 154817687 [T/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs11264275 1 154825270 [T/G] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent exm104761 1 154832178 [T/G] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 EXON Missense_P4H,Silent,Silent rs1061122 1 154832290 [T/C] NM_170782,NM_002249,NM_001204087 KCNN3,KCNN3,KCNN3 EXON Silent,Silent,Silent rs7553195 1 154837796 [T/C] NM_002249,NM_001204087 KCNN3,KCNN3 Silent,Silent exm104777 1 154842034 [A/G] NM_002249,NM_001204087 KCNN3,KCNN3 EXON Missense_L136S,Missense_L136S exm104812 1 154898881 [T/C] NM_001323012,NM_001323011,NM_001348696,NM_006556 PMVK,PMVK,PMVK,PMVK EXON Missense_V56I,Missense_V117I,Missense_V56I,Missense_V131I exm2249976 1 154898894 [T/C] NM_001323012,NM_001323011,NM_001348696,NM_006556 PMVK,PMVK,PMVK,PMVK EXON Synonymous_T51T,Synonymous_T112T,Synonymous_T51T,Synonymous_T126T exm104817 1 154898899 [T/C] NM_001323012,NM_001323011,NM_001348696,NM_006556 PMVK,PMVK,PMVK,PMVK EXON Missense_V50M,Missense_V111M,Missense_V50M,Missense_V125M exm104819 1 154898917 [A/G] NM_001323012,NM_001323011,NM_001348696,NM_006556 PMVK,PMVK,PMVK,PMVK EXON Missense_R44W,Missense_R105W,Missense_R44W,Missense_R119W exm104820 1 154898943 [T/C] NM_001323012,NM_001323011,NM_001348696,NM_006556 PMVK,PMVK,PMVK,PMVK EXON Missense_R35Q,Missense_R96Q,Missense_R35Q,Missense_R110Q exm104822 1 154901525 [A/G] NM_001323012,NM_001323011,NM_001348696,NM_006556 PMVK,PMVK,PMVK,PMVK EXON Missense_V21A,Missense_V82A,Missense_V21A,Missense_V96A exm104823 1 154901589 [C/G] NM_001323012,NM_001323011,NM_001348696,NM_006556 PMVK,PMVK,PMVK,PMVK EXON Silent,Missense_D61H,Silent,Missense_D75H exm104825 1 154904833 [A/C] NM_001323012,NM_001323011,NM_001348696,NM_006556 PMVK,PMVK,PMVK,PMVK EXON Silent,Missense_A38S,Missense_M16I,Missense_A52S rs1891805 1 154904840 [T/C] NM_001323012,NM_001323011,NM_001348696,NM_006556 PMVK,PMVK,PMVK,PMVK EXON Silent,Synonymous_E35E,Missense_N14S,Synonymous_E49E exm104827 1 154904863 [A/G] NM_001323012,NM_001323011,NM_001348696,NM_006556 PMVK,PMVK,PMVK,PMVK EXON Silent,Missense_R28W,Synonymous_S6S,Missense_R42W rs6699043 1 154913021 [T/C] NM_001323012 PMVK Silent variant.6998 1 154918043 [A/C] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 Silent,Silent,Silent variant.6999 1 154918070 [A/C] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 EXON Nonsense_G694X,Nonsense_G539X,Nonsense_G665X exm1716607 1 154918182 [G/C] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 EXON Missense_F656L,Missense_F501L,Missense_F627L exm104846 1 154918187 [A/G] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 EXON Missense_R655C,Missense_R500C,Missense_R626C exm104849 1 154918277 [A/G] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 EXON Missense_R625W,Missense_R470W,Missense_R596W exm104853 1 154918369 [T/C] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 EXON Missense_C594Y,Missense_C439Y,Missense_C565Y exm2231389 1 154918474 [T/C] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 EXON Missense_R559Q,Missense_R404Q,Missense_R530Q exm104858 1 154918522 [T/C] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 EXON Missense_R543K,Missense_R388K,Missense_R514K variant.7002 1 154918636 [T/C] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 EXON Nonsense_W505X,Nonsense_W350X,Nonsense_W476X exm104869 1 154918798 [A/C] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 EXON Missense_G451V,Missense_G296V,Missense_G422V exm1716612 1 154918939 [A/T] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 EXON Missense_L404Q,Missense_L249Q,Missense_L375Q exm104878 1 154919080 [T/C] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 EXON Missense_G357D,Missense_G202D,Missense_G328D exm104885 1 154919209 [T/C] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 EXON Missense_R314Q,Missense_R159Q,Missense_R285Q exm104904 1 154920167 [T/C] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 EXON Missense_R230Q,Missense_R75Q,Missense_R201Q exm104908 1 154920648 [A/C] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 EXON Missense_A202S,Missense_A47S,Missense_A173S exm104909 1 154920687 [T/C] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 EXON Missense_G189R,Missense_G34R,Missense_G160R exm104916 1 154920765 [A/G] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 EXON Missense_R163W,Missense_R8W,Missense_R134W exm104923 1 154920822 [A/G] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 EXON Missense_R144C,Silent,Missense_R115C exm104933 1 154924307 [T/C] NM_020524,NM_001317735,NM_001317734 PBXIP1,PBXIP1,PBXIP1 EXON Missense_D48N,Silent,Missense_D19N exm104962 1 154931757 [T/A] NM_138300 PYGO2 EXON Missense_N240I 1KG_1_154931796 1 154931796 [D/I] NM_138300 PYGO2 EXON exm104995 1 154936389 [A/G] NM_183001,NM_003029,NM_001202859,NM_001130041,NM_001130040 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_R548C,Missense_R439C,Missense_R393C,Missense_R438C,Missense_R549C indel.7011 1 154936676 [D/I] NM_183001,NM_003029,NM_001202859,NM_001130041,NM_001130040 SHC1,SHC1,SHC1,SHC1,SHC1 exm105011 1 154938215 [A/G] NM_183001,NM_003029,NM_001202859,NM_001130041,NM_001130040 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_S476L,Missense_S367L,Missense_S321L,Missense_S366L,Missense_S477L exm105018 1 154938454 [T/C] NM_183001,NM_003029,NM_001202859,NM_001130041,NM_001130040 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_N451S,Missense_N342S,Missense_N296S,Missense_N341S,Missense_N452S exm105023 1 154938662 [T/C] NM_183001,NM_003029,NM_001202859,NM_001130041,NM_001130040 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_M410V,Missense_M300V,Missense_M255V,Missense_M300V,Missense_M410V exm105045 1 154941066 [T/C] NM_183001,NM_003029,NM_001202859,NM_001130041,NM_001130040 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_I219V,Missense_I109V,Missense_I64V,Missense_I109V,Missense_I219V exm105046 1 154941077 [A/G] NM_183001,NM_003029,NM_001202859,NM_001130041,NM_001130040 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_P215L,Missense_P105L,Missense_P60L,Missense_P105L,Missense_P215L exm105049 1 154941263 [A/G] NM_183001,NM_003029,NM_001202859,NM_001130041,NM_001130040 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_A205V,Missense_A95V,Missense_A50V,Missense_A95V,Missense_A205V exm105062 1 154942785 [A/G] NM_183001,NM_003029,NM_001202859,NM_001130041,NM_001130040 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_P73L,Silent,Silent,Silent,Missense_P73L exm1716677 1 154942861 [A/G] NM_183001,NM_003029,NM_001202859,NM_001130041,NM_001130040 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_P48S,Silent,Silent,Silent,Missense_P48S exm105066 1 154942911 [A/G] NM_183001,NM_003029,NM_001202859,NM_001130041,NM_001130040 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_P31L,Silent,Silent,Silent,Missense_P31L rs12076073 1 154944156 [A/G] NM_003029,NM_001202859,NM_001130041 SHC1,SHC1,SHC1 Silent,Silent,Silent variant.7016 1 154947389 [T/G] NR_024163,NM_001826 CKS1B,CKS1B Silent,Silent newrs149321878 1 154956201 [T/C] NM_025207,NM_001184892,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Nonsense_Q11X,Silent,Silent,Silent exm105083 1 154956267 [A/G] NM_025207,NM_001184892,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_G33R,Silent,Silent,Silent exm105089 1 154956373 [A/G] NM_025207,NM_001184892,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_D68G,Silent,Silent,Silent rs7525580 1 154959882 [A/G] NM_025207,NM_001184892,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 Silent,Silent,Silent,Silent exm2231397 1 154960524 [A/T] NM_025207,NM_001184892,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Silent,Missense_T7S,Silent,Silent exm105097 1 154960651 [A/G] NM_025207,NM_001184892,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_R148Q,Missense_R49Q,Missense_R51Q,Missense_R51Q exm105101 1 154960848 [A/G] NM_025207,NM_001184892,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_G214R,Missense_G115R,Missense_G117R,Missense_G117R exm105107 1 154960891 [A/G] NM_025207,NM_001184892,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_R228H,Missense_R129H,Missense_R131H,Missense_R131H exm105112 1 154960953 [T/C] NM_025207,NM_001184892,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Nonsense_R249X,Nonsense_R150X,Nonsense_R152X,Nonsense_R152X exm105114 1 154960995 [T/C] NM_025207,NM_001184892,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_R263W,Missense_R164W,Missense_R166W,Missense_R166W exm105116 1 154961011 [T/G] NM_025207,NM_001184892,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_M268R,Missense_M169R,Missense_M171R,Missense_M171R exm1716699 1 154961125 [A/G] NM_025207,NM_001184892,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_R306H,Missense_R207H,Missense_R209H,Missense_R209H exm105120 1 154961153 [A/C] NM_025207,NM_001184892,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_D315E,Missense_D216E,Missense_D218E,Missense_D218E exm105124 1 154961241 [T/C] NM_025207,NM_001184892,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_R345C,Missense_R246C,Missense_R248C,Missense_R248C exm105135 1 154962102 [A/G] NM_025207,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1 EXON Missense_S395N,Missense_S298N,Missense_S298N exm105138 1 154962678 [T/C] NM_025207,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1 EXON Missense_R437C,Missense_R340C,Missense_R340C exm105139 1 154962679 [A/G] NM_025207,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1 EXON Missense_R437H,Missense_R340H,Missense_R340H exm1716708 1 154962945 [T/C] NM_025207,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1 EXON Missense_C499R,Missense_C402R,Missense_C402R variant.7026 1 154965061 [T/C] NM_025207,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1 Silent,Silent,Silent exm105158 1 154965223 [A/G] NM_025207,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1 EXON Missense_R530H,Missense_R433H,Missense_R433H exm105159 1 154965244 [G/C] NM_025207,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1 EXON Missense_C537S,Missense_C440S,Missense_C440S rs2232633 1 154965413 [A/G] NM_025207,NM_001184891,NM_201398 FLAD1,FLAD1,FLAD1 EXON Missense_R555Q,Silent,Missense_R458Q exm105168 1 154966093 [T/C] NM_018655 LENEP EXON Missense_R4W exm105173 1 154966159 [T/C] NM_018655 LENEP EXON Missense_R26W exm105177 1 154966255 [A/G] NM_018655 LENEP EXON Missense_E58K exm105185 1 154987341 [A/G] NM_001256455,NR_049765,NR_046206,NR_045515,NM_001252406 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Missense_G69R,Silent,Silent,Silent,Missense_G103R exm105187 1 154987368 [A/G] NM_001256455,NR_049765,NR_046206,NR_045515,NM_001252406 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Missense_G78R,Silent,Silent,Silent,Missense_G112R rs11264295 1 154987526 [T/C] NM_001256455,NR_049765,NR_046206,NR_045515,NM_001252406 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Synonymous_I130I,Silent,Silent,Silent,Synonymous_I164I exm105208 1 154987704 [T/C] NM_001256455,NR_049765,NR_046206,NR_045515,NM_001252406 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Missense_P190S,Silent,Silent,Silent,Missense_P224S exm105226 1 154987947 [A/G] NM_001256455,NR_049765,NR_046206,NR_045515,NM_001252406 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Missense_E271K,Silent,Silent,Silent,Missense_E305K exm105229 1 154987980 [A/C] NM_001256455,NR_049765,NR_046206,NR_045515,NM_001252406 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Missense_L282M,Silent,Silent,Silent,Missense_L316M exm105233 1 154988019 [A/G] NM_001256455,NR_049765,NR_046206,NR_045515,NM_001252406 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Missense_G295R,Silent,Silent,Silent,Missense_G329R exm105236 1 154988116 [A/C] NM_001256455,NR_049765,NR_046206,NR_045515,NM_001252406 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Missense_A327E,Silent,Silent,Silent,Missense_A361E exm105267 1 154991027 [A/G] NM_144622 DCST2 EXON Missense_P772L exm1716737 1 154991145 [T/G] NM_144622 DCST2 EXON Missense_P733T exm105282 1 154991226 [T/C] NM_144622 DCST2 EXON Missense_E706K exm105289 1 154995849 [T/G] NM_144622 DCST2 EXON Missense_D652A exm105296 1 154996326 [T/C] NM_144622 DCST2 EXON Missense_S618G exm105298 1 154996385 [T/G] NM_144622 DCST2 EXON Missense_Y598S exm105305 1 154996996 [T/C] NM_144622 DCST2 EXON Missense_R565Q variant.7036 1 154999056 [T/G] NM_144622 DCST2 EXON Nonsense_S493X exm2276897 1 154999056 [A/G] NM_144622 DCST2 EXON Missense_S493L exm105321 1 154999134 [T/C] NM_144622 DCST2 EXON Missense_R467H exm105324 1 154999189 [G/C] NM_144622 DCST2 EXON Missense_P449A variant.7037 1 155001811 [A/G] NM_144622 DCST2 EXON Nonsense_R414X exm105327 1 155001829 [T/C] NM_144622 DCST2 EXON Missense_E408K newrs149078228 1 155001836 [T/G] NM_144622 DCST2 EXON Nonsense_Y405X indel.7039 1 155001838 [I/D] NM_144622 DCST2 EXON exm2249977 1 155002585 [A/G] NM_144622 DCST2 EXON Synonymous_H384H exm105339 1 155002634 [A/G] NM_144622 DCST2 EXON Missense_A368V exm105340 1 155002653 [A/G] NM_144622 DCST2 EXON Nonsense_R362X exm105343 1 155002921 [A/G] NM_144622 DCST2 EXON Missense_L336F exm105344 1 155002938 [A/G] NM_144622 DCST2 EXON Missense_T330M exm105345 1 155002968 [T/C] NM_144622 DCST2 EXON Missense_R320Q exm105347 1 155002999 [T/C] NM_144622 DCST2 EXON Missense_E310K exm105348 1 155003000 [A/G] NM_144622 DCST2 EXON Synonymous_H309H exm105349 1 155003017 [T/C] NM_144622 DCST2 EXON Missense_V304I exm105356 1 155003663 [A/G] NM_144622 DCST2 EXON Missense_R263C exm1716769 1 155004049 [T/C] NM_144622 DCST2 Silent exm105364 1 155004182 [T/C] NM_144622 DCST2 EXON Missense_G203S 1KG_1_155004214 1 155004214 [D/I] NM_144622 DCST2 EXON exm1716776 1 155004236 [A/G] NM_144622 DCST2 EXON Missense_R185W variant.7045 1 155005138 [T/C] NM_144622 DCST2 Silent exm105368 1 155005167 [T/C] NM_144622 DCST2 EXON Missense_I173V exm105377 1 155005584 [T/C] NM_144622 DCST2 EXON Missense_K142R exm105387 1 155005719 [A/G] NM_144622 DCST2 EXON Missense_L97S exm105395 1 155006015 [A/C] NM_144622 DCST2 EXON Missense_C55G exm105406 1 155006099 [T/C] NM_144622 DCST2 EXON Missense_V27M exm2275494 1 155006141 [G/C] NM_144622 DCST2 EXON Missense_G13R exm1716791 1 155007165 [A/G] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_Y75C,Silent exm105426 1 155007181 [T/G] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_I80M,Silent exm1716792 1 155007194 [A/G] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_S85G,Silent variant.7049 1 155007208 [A/G] NM_152494,NM_001143687 DCST1,DCST1 Silent,Silent rs4845404 1 155007293 [T/C] NM_152494,NM_001143687 DCST1,DCST1 Silent,Silent exm105432 1 155011917 [T/C] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_R101C,Missense_R76C exm105435 1 155012002 [A/T] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_Y129F,Missense_Y104F exm105438 1 155013020 [A/G] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_V151M,Missense_V126M exm105439 1 155013042 [T/C] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_T158I,Missense_T133I exm105442 1 155013056 [T/C] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_R163C,Missense_R138C exm105446 1 155013903 [T/C] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_R188W,Missense_R163W exm1716805 1 155014223 [A/G] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_R261H,Missense_R236H exm105465 1 155015228 [T/C] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_R304C,Missense_R279C exm105470 1 155015333 [A/G] NM_152494,NM_001143687 DCST1,DCST1 Silent,Silent exm1716810 1 155015844 [A/G] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_G344E,Missense_G319E exm105485 1 155015906 [T/C] NM_152494,NM_001143687 DCST1,DCST1 EXON Missense_R365C,Missense_R340C exm105490 1 155015986 [A/G] NM_152494,NM_001143687 DCST1,DCST1 Silent,Silent exm105491 1 155018436 [T/C] NM_152494,NM_001143687,NR_040772,NR_040773 DCST1,DCST1,DCST1-AS1,DCST1-AS1 EXON Missense_F414L,Missense_F389L,Silent,Silent exm105495 1 155018836 [A/G] NM_152494,NM_001143687,NR_040772,NR_040773 DCST1,DCST1,DCST1-AS1,DCST1-AS1 EXON Missense_V457M,Missense_V432M,Silent,Silent exm105505 1 155019710 [A/C] NM_152494,NM_001143687,NR_040772,NR_040773 DCST1,DCST1,DCST1-AS1,DCST1-AS1 EXON Missense_M512L,Missense_M487L,Silent,Silent exm105506 1 155019711 [T/C] NM_152494,NM_001143687,NR_040772,NR_040773 DCST1,DCST1,DCST1-AS1,DCST1-AS1 EXON Missense_M512T,Missense_M487T,Silent,Silent exm105507 1 155019720 [A/G] NM_152494,NM_001143687,NR_040772,NR_040773 DCST1,DCST1,DCST1-AS1,DCST1-AS1 EXON Missense_R515Q,Missense_R490Q,Silent,Silent exm105509 1 155019738 [T/C] NM_152494,NM_001143687,NR_040772,NR_040773 DCST1,DCST1,DCST1-AS1,DCST1-AS1 EXON Missense_I521T,Missense_I496T,Silent,Silent exm105524 1 155020629 [T/C] NM_152494,NM_001143687,NR_040772,NR_040773 DCST1,DCST1,DCST1-AS1,DCST1-AS1 EXON Nonsense_R618X,Nonsense_R593X,Silent,Silent exm105526 1 155020645 [T/C] NM_152494,NM_001143687,NR_040772,NR_040773 DCST1,DCST1,DCST1-AS1,DCST1-AS1 EXON Missense_P623L,Missense_P598L,Silent,Silent exm2231407 1 155025186 [T/C] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_P40L,Missense_P40L,Nonsense_R50X,Missense_P40L,Missense_P40L,Missense_P50L,Missense_P40L,Missense_P40L,Silent,Missense_P40L,Silent,Silent exm105539 1 155025894 [C/G] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_T63S,Missense_T63S,Silent,Missense_T63S,Missense_T63S,Missense_T73S,Missense_T63S,Missense_T63S,Silent,Missense_T63S,Silent,Silent exm105541 1 155025945 [T/A] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_H80L,Missense_H80L,Silent,Missense_H80L,Missense_H80L,Missense_H90L,Missense_H80L,Missense_H80L,Silent,Missense_H80L,Silent,Silent exm105546 1 155026438 [T/C] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R106W,Missense_R106W,Missense_R90W,Missense_R106W,Missense_R106W,Missense_R116W,Missense_R106W,Missense_R106W,Silent,Missense_R106W,Silent,Silent exm105552 1 155026654 [A/G] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R124Q,Missense_R124Q,Missense_R108Q,Missense_R124Q,Missense_R124Q,Missense_R134Q,Missense_R124Q,Missense_R124Q,Silent,Missense_R124Q,Silent,Silent exm105555 1 155026798 [T/G] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_V143G,Missense_V143G,Missense_V127G,Missense_V143G,Missense_V143G,Missense_V153G,Missense_V143G,Missense_V143G,Silent,Missense_V143G,Silent,Silent exm105564 1 155026942 [A/C] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_K191T,Missense_K191T,Missense_K175T,Missense_K191T,Missense_K191T,Missense_K201T,Missense_K191T,Missense_K191T,Silent,Missense_K191T,Silent,Silent exm2249978 1 155026952 [A/G] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Synonymous_E194E,Synonymous_E194E,Synonymous_E178E,Synonymous_E194E,Synonymous_E194E,Synonymous_E204E,Synonymous_E194E,Synonymous_E194E,Silent,Synonymous_E194E,Silent,Silent exm105566 1 155026980 [T/C] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R204W,Missense_R204W,Missense_R188W,Missense_R204W,Missense_R204W,Missense_R214W,Missense_R204W,Missense_R204W,Silent,Missense_R204W,Silent,Silent newrs145175840 1 155028328 [A/G] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Synonymous_E225E,Synonymous_E225E,Synonymous_E209E,Synonymous_E225E,Synonymous_E225E,Synonymous_E235E,Synonymous_E225E,Synonymous_E225E,Silent,Synonymous_E225E,Silent,Silent exm105575 1 155028450 [A/C] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_L240M,Missense_L240M,Missense_L224M,Missense_L240M,Missense_L240M,Missense_L250M,Missense_L240M,Missense_L240M,Silent,Missense_L240M,Silent,Silent exm105581 1 155028614 [A/G] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R268H,Missense_R268H,Missense_R252H,Missense_R268H,Missense_R268H,Missense_R278H,Missense_R268H,Missense_R268H,Silent,Missense_R268H,Silent,Silent exm105584 1 155028692 [T/C] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_P294L,Missense_P294L,Missense_P278L,Missense_P294L,Missense_P294L,Missense_P304L,Missense_P294L,Missense_P294L,Silent,Missense_P294L,Silent,Silent exm105585 1 155028713 [T/C] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_A301V,Missense_A301V,Missense_A285V,Missense_A301V,Missense_A301V,Missense_A311V,Missense_A301V,Missense_A301V,Silent,Missense_A301V,Silent,Silent variant.7067 1 155028935 [A/G] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_G330S,Missense_G330S,Missense_G314S,Missense_G330S,Missense_G330S,Missense_G340S,Missense_G330S,Missense_G330S,Silent,Missense_G330S,Silent,Silent exm105597 1 155029702 [A/G] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R396Q,Missense_R396Q,Missense_R380Q,Missense_R396Q,Missense_R396Q,Missense_R406Q,Missense_R396Q,Missense_R396Q,Silent,Missense_R396Q,Silent,Silent exm105602 1 155029773 [A/C] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_M420L,Missense_M420L,Missense_M404L,Missense_M420L,Missense_M420L,Missense_M430L,Missense_M420L,Missense_M420L,Silent,Missense_M420L,Silent,Silent exm105612 1 155030330 [T/C] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R474C,Missense_R474C,Missense_R458C,Missense_R474C,Missense_R474C,Missense_R484C,Missense_R474C,Missense_R474C,Silent,Missense_R474C,Silent,Silent exm1716856 1 155030352 [A/G] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R481H,Missense_R481H,Missense_R465H,Missense_R481H,Missense_R481H,Missense_R491H,Missense_R481H,Missense_R481H,Silent,Missense_R481H,Silent,Silent exm105614 1 155030364 [A/G] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_G485E,Missense_G485E,Missense_G469E,Missense_G485E,Missense_G485E,Missense_G495E,Missense_G485E,Missense_G485E,Silent,Missense_G485E,Silent,Silent exm105621 1 155030534 [A/G] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_A542T,Missense_A542T,Missense_A526T,Missense_A542T,Missense_A542T,Missense_A552T,Missense_A542T,Missense_A542T,Silent,Missense_A542T,Silent,Silent exm105622 1 155030538 [T/C] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_A543V,Missense_A543V,Missense_A527V,Missense_A543V,Missense_A543V,Missense_A553V,Missense_A543V,Missense_A543V,Silent,Missense_A543V,Silent,Silent exm105625 1 155030595 [A/G] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R562H,Missense_R562H,Missense_R546H,Missense_R562H,Missense_R562H,Missense_R572H,Missense_R562H,Missense_R562H,Silent,Missense_R562H,Silent,Silent exm105626 1 155030599 [A/C] NR_040773,NM_207197,NM_207196,NM_001261466,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_N563K,Missense_N563K,Missense_N547K,Missense_N563K,Missense_N563K,Missense_N573K,Missense_N563K,Missense_N563K,Silent,Missense_N563K,Silent,Silent exm-rs12023499 1 155031376 [T/C] NR_040773,NM_207197,NM_207196,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm105640 1 155032752 [A/G] NR_040773,NM_207197,NM_207196,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_S714G,Missense_S714G,Missense_S714G,Missense_S714G,Missense_S724G,Missense_S714G,Missense_S714G,Silent,Missense_S714G,Silent,Silent exm105644 1 155032806 [A/C] NR_040773,NM_207197,NM_207196,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_T732P,Missense_T732P,Missense_T732P,Missense_T732P,Missense_T742P,Missense_T732P,Missense_T732P,Silent,Missense_T732P,Silent,Silent exm105645 1 155032818 [A/C] NR_040773,NM_207197,NM_207196,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Synonymous_R736R,Synonymous_R736R,Synonymous_R736R,Synonymous_R736R,Synonymous_R746R,Synonymous_R736R,Missense_S736R,Silent,Synonymous_R736R,Silent,Silent exm105649 1 155033265 [A/G] NR_040773,NM_207197,NM_207196,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R745Q,Missense_R745Q,Missense_R745Q,Missense_R745Q,Missense_R755Q,Silent,Silent,Silent,Missense_R745Q,Silent,Silent exm105654 1 155033308 [A/G] NR_040773,NM_207197,NM_207196,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Synonymous_K759K,Synonymous_K759K,Synonymous_K759K,Synonymous_K759K,Synonymous_K769K,Silent,Silent,Silent,Synonymous_K759K,Silent,Silent exm105657 1 155033913 [T/C] NR_040773,NM_207197,NM_207196,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_P767L,Missense_P766L,Missense_P767L,Silent,Silent,Missense_R743W,Silent,Silent,Silent,Silent,Silent exm105658 1 155033918 [T/C] NR_040773,NM_207197,NM_207196,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_P769S,Missense_P768S,Missense_P769S,Silent,Silent,Synonymous_P744P,Silent,Silent,Silent,Silent,Silent exm2275495 1 155033921 [A/C] NR_040773,NM_207197,NM_207196,NM_207194,NM_207195,NM_001261464,NM_001261465,NM_207191,NR_048578,NM_003815,NR_048577,NR_048579 DCST1-AS1,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_P770T,Missense_P769T,Missense_P770T,Silent,Silent,Synonymous_P745P,Silent,Silent,Silent,Silent,Silent exm105681 1 155039225 [G/C] NM_182689,NM_182690,NM_005227 EFNA4,EFNA4,EFNA4 EXON Missense_V45L,Missense_V45L,Missense_V45L exm105682 1 155039270 [T/C] NM_182689,NM_182690,NM_005227 EFNA4,EFNA4,EFNA4 EXON Missense_H60Y,Missense_H60Y,Missense_H60Y exm105694 1 155039441 [A/C] NM_182689,NM_182690,NM_005227 EFNA4,EFNA4,EFNA4 EXON Missense_P117T,Missense_P117T,Missense_P117T exm105696 1 155039849 [A/G] NM_182689,NM_182690,NM_005227 EFNA4,EFNA4,EFNA4 EXON Synonymous_S134S,Synonymous_S134S,Synonymous_S134S exm105701 1 155041330 [T/G] NM_182689,NM_182690,NM_005227 EFNA4,EFNA4,EFNA4 EXON Silent,Silent,Missense_K157N exm105707 1 155041449 [T/G] NM_182689,NM_182690,NM_005227 EFNA4,EFNA4,EFNA4 EXON Silent,Silent,Missense_L197R variant.7086 1 155041454 [T/C] NM_182689,NM_182690,NM_005227 EFNA4,EFNA4,EFNA4 EXON Silent,Silent,Nonsense_R199X exm105709 1 155041477 [T/C] NM_182689,NM_182690,NM_005227 EFNA4,EFNA4,EFNA4 EXON Silent,Missense_L158F,Silent exm105710 1 155041489 [C/G] NM_182689,NM_182690,NM_005227 EFNA4,EFNA4,EFNA4 EXON Silent,Missense_P162A,Silent exm105711 1 155041499 [G/C] NM_182689,NM_182690,NM_005227 EFNA4,EFNA4,EFNA4 EXON Synonymous_A158A,Missense_P165R,Silent rs35902694 1 155042886 [T/G] rs11264306 1 155043325 [A/C] exm105716 1 155057650 [T/C] NM_004952 EFNA3 EXON Missense_V71A exm105734 1 155058663 [A/G] NM_004952 EFNA3 EXON Missense_V190M exm105736 1 155058887 [A/C] NM_004952 EFNA3 Silent exm105739 1 155058957 [T/C] NM_004952 EFNA3 EXON Missense_R219W rs7365544 1 155068748 [A/C] rs7367207 1 155079477 [T/C] rs12040970 1 155095300 [T/C] exm105745 1 155103819 [T/C] NM_004428,NM_182685 EFNA1,EFNA1 EXON Missense_R33W,Missense_R33W exm1716946 1 155103842 [A/T] NM_004428,NM_182685 EFNA1,EFNA1 EXON Missense_H40Q,Missense_H40Q exm105764 1 155106227 [T/A] NM_004428,NM_182685 EFNA1,EFNA1 EXON Missense_D159V,Missense_D137V exm105765 1 155106439 [A/G] NM_004428,NM_182685 EFNA1,EFNA1 EXON Missense_E172K,Missense_E150K exm105766 1 155106446 [A/G] NM_004428,NM_182685 EFNA1,EFNA1 EXON Missense_R174Q,Missense_R152Q exm2273337 1 155106697 [A/G] NM_004428,NM_182685 EFNA1,EFNA1 EXON Silent,Silent rs12726330 1 155108167 [A/G] NM_001287590,NM_001287592,NM_001287591 SLC50A1,SLC50A1,SLC50A1 Silent,Silent,Silent indel.7090 1 155109363 [D/I] NM_001287590,NM_001287592,NM_001287591,NM_001122839,NM_001287589,NM_001287588,NM_018845,NM_001122837,NM_001287587,NM_001287586 SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1 EXON exm105786 1 155110127 [T/C] NM_001287590,NM_001287592,NM_001287591,NM_001122839,NM_001287589,NM_001287588,NM_018845,NM_001122837,NM_001287587,NM_001287586 SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1 EXON Missense_R60W,Silent,Missense_R87W,Silent,Silent,Missense_R70W,Missense_R125W,Missense_R70W,Missense_R118W,Missense_R79W variant.7091 1 155110551 [T/C] NM_001287590,NM_001287592,NM_001287591,NM_001122839,NM_001287589,NM_001287588,NM_018845,NM_001122837,NM_001287587,NM_001287586 SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1 EXON Nonsense_R116X,Nonsense_R63X,Nonsense_R143X,Nonsense_R127X,Nonsense_R72X,Nonsense_R126X,Nonsense_R181X,Nonsense_R126X,Nonsense_R174X,Nonsense_R135X exm105792 1 155110700 [G/C] NM_001287590,NM_001287592,NM_001287591,NM_001122839,NM_001287589,NM_001287588,NM_018845,NM_001122837,NM_001287587,NM_001287586 SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1,SLC50A1 EXON Missense_W138C,Missense_W85C,Missense_W165C,Missense_W149C,Missense_W94C,Silent,Missense_W203C,Missense_W148C,Missense_W196C,Missense_W157C rs4971079 1 155130391 [A/G] rs12028043 1 155132836 [A/G] exm105809 1 155145097 [T/C] NM_173852 KRTCAP2 EXON Missense_N82S exm1717035 1 155148462 [T/C] NM_001282378,NM_001256600,NR_046327,NM_025058,NM_001256599,NM_001282379,NR_104150,NR_046329,NM_001256601 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 EXON Missense_R16W,Missense_R129W,Silent,Missense_R142W,Missense_R119W,Missense_R142W,Silent,Silent,Missense_R129W exm105846 1 155148520 [A/G] NM_001282378,NM_001256600,NR_046327,NM_025058,NM_001256599,NM_001282379,NR_104150,NR_046329,NM_001256601 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 EXON Missense_R35H,Missense_R148H,Silent,Missense_R161H,Missense_R138H,Missense_R161H,Silent,Silent,Missense_R148H rs3814316 1 155149718 [A/G] NM_001282378,NM_001256600,NR_046327,NM_025058,NM_001256599,NM_001282379,NR_104150,NR_046329,NM_001256601 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 EXON Synonymous_T161T,Synonymous_T274T,Silent,Synonymous_T287T,Synonymous_T264T,Synonymous_T287T,Silent,Silent,Synonymous_T274T exm105860 1 155150593 [A/G] NM_001282378,NM_001256600,NR_046327,NM_025058,NM_001256599,NM_001282379,NR_104150,NR_046329,NM_001256601 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 EXON Missense_R216Q,Missense_R300Q,Silent,Missense_R342Q,Missense_R319Q,Missense_R342Q,Silent,Silent,Missense_R329Q exm105862 1 155150602 [A/G] NM_001282378,NM_001256600,NR_046327,NM_025058,NM_001256599,NM_001282379,NR_104150,NR_046329,NM_001256601 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 EXON Missense_R219H,Missense_R303H,Silent,Missense_R345H,Missense_R322H,Missense_R345H,Silent,Silent,Missense_R332H exm105873 1 155151048 [G/C] NM_001282378,NM_001256600,NR_046327,NM_025058,NM_001256599,NM_001282379,NR_104150,NR_046329,NM_001256601 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 EXON Missense_G289A,Missense_G373A,Silent,Missense_G415A,Missense_G392A,Missense_G415A,Silent,Silent,Missense_G402A rs11264341 1 155151493 [T/C] NM_001282378,NM_001256600,NR_046327,NM_025058,NM_001256599,NM_001282379,NR_104150,NR_046329,NM_001256601 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm105923 1 155158634 [G/C] NM_001204296,NM_001204288,NM_001044393,NM_001204287,NM_001044392,NM_001204295,NM_001018016,NM_001044390,NM_001204292,NM_001018017,NM_001204285,NM_001044391,NM_001204291,NM_001204290,NM_001204293,NM_001204297,NM_001204289,NM_002456,NM_001204294,NM_001204286 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Missense_A206P,Silent,Silent,Missense_A276P,Missense_A153P,Missense_A183P,Missense_A258P,Missense_A197P,Missense_A233P,Missense_A249P,Missense_A469P,Missense_A144P,Missense_A235P,Missense_A211P,Silent,Missense_A171P,Missense_A232P,Missense_A267P,Missense_A224P,Missense_A478P exm1717066 1 155159944 [T/C] NM_001204296,NM_001204288,NM_001044393,NM_001204287,NM_001044392,NM_001204295,NM_001018016,NM_001044390,NM_001204292,NM_001018017,NM_001204285,NM_001044391,NM_001204291,NM_001204290,NM_001204293,NM_001204297,NM_001204289,NM_002456,NM_001204294,NM_001204286 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Missense_Y134C,Synonymous_L175L,Synonymous_L114L,Missense_Y204C,Silent,Missense_Y111C,Missense_Y186C,Missense_Y125C,Missense_Y161C,Missense_Y177C,Missense_Y397C,Silent,Missense_Y163C,Missense_Y139C,Silent,Silent,Missense_Y160C,Missense_Y195C,Missense_Y152C,Missense_Y406C exm105931 1 155159955 [A/C] NM_001204296,NM_001204288,NM_001044393,NM_001204287,NM_001044392,NM_001204295,NM_001018016,NM_001044390,NM_001204292,NM_001018017,NM_001204285,NM_001044391,NM_001204291,NM_001204290,NM_001204293,NM_001204297,NM_001204289,NM_002456,NM_001204294,NM_001204286 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Synonymous_L130L,Missense_G172C,Missense_G111C,Synonymous_L200L,Silent,Synonymous_L107L,Synonymous_L182L,Synonymous_L121L,Synonymous_L157L,Synonymous_L173L,Synonymous_L393L,Silent,Synonymous_L159L,Synonymous_L135L,Silent,Silent,Synonymous_L156L,Synonymous_L191L,Synonymous_L148L,Synonymous_L402L exm105936 1 155160049 [T/C] NM_001204296,NM_001204288,NM_001044393,NM_001204287,NM_001044392,NM_001204295,NM_001018016,NM_001044390,NM_001204292,NM_001018017,NM_001204285,NM_001044391,NM_001204291,NM_001204290,NM_001204293,NM_001204297,NM_001204289,NM_002456,NM_001204294,NM_001204286 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Missense_S99N,Silent,Silent,Missense_S169N,Silent,Silent,Missense_S151N,Missense_S90N,Missense_S126N,Missense_S142N,Missense_S362N,Silent,Missense_S128N,Missense_S104N,Silent,Silent,Missense_S125N,Missense_S160N,Missense_S117N,Missense_S371N exm105939 1 155160270 [T/C] NM_001204296,NM_001204288,NM_001044393,NM_001204287,NM_001044392,NM_001204295,NM_001018016,NM_001044390,NM_001204292,NM_001018017,NM_001204285,NM_001044391,NM_001204291,NM_001204290,NM_001204293,NM_001204297,NM_001204289,NM_002456,NM_001204294,NM_001204286 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Missense_V126M,Silent,Missense_V144M,Silent,Silent,Missense_V126M,Silent,Missense_V101M,Missense_V117M,Missense_V337M,Silent,Missense_V103M,Missense_V79M,Missense_V135M,Silent,Missense_V100M,Missense_V135M,Missense_V92M,Missense_V346M exm105942 1 155160329 [A/C] NM_001204296,NM_001204288,NM_001044393,NM_001204287,NM_001044392,NM_001204295,NM_001018016,NM_001044390,NM_001204292,NM_001018017,NM_001204285,NM_001044391,NM_001204291,NM_001204290,NM_001204293,NM_001204297,NM_001204289,NM_002456,NM_001204294,NM_001204286 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Missense_G106V,Silent,Missense_G124V,Silent,Silent,Missense_G106V,Silent,Missense_G81V,Missense_G97V,Missense_G317V,Silent,Missense_G83V,Missense_G59V,Missense_G115V,Silent,Missense_G80V,Missense_G115V,Missense_G72V,Missense_G326V exm105950 1 155160698 [A/T] NM_001204296,NM_001204288,NM_001044393,NM_001204287,NM_001044392,NM_001204295,NM_001018016,NM_001044390,NM_001204292,NM_001018017,NM_001204285,NM_001044391,NM_001204291,NM_001204290,NM_001204293,NM_001204297,NM_001204289,NM_002456,NM_001204294,NM_001204286 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Missense_S66T,Silent,Missense_S84T,Missense_S66T,Missense_S66T,Missense_S66T,Silent,Silent,Missense_S57T,Missense_S277T,Missense_S57T,Silent,Silent,Missense_S75T,Missense_S84T,Silent,Missense_S75T,Silent,Missense_S286T variant.7102 1 155160708 [T/C] NM_001204296,NM_001204288,NM_001044393,NM_001204287,NM_001044392,NM_001204295,NM_001018016,NM_001044390,NM_001204292,NM_001018017,NM_001204285,NM_001044391,NM_001204291,NM_001204290,NM_001204293,NM_001204297,NM_001204289,NM_002456,NM_001204294,NM_001204286 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Silent,Silent,Synonymous_Q80Q,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_Q273Q,Silent,Silent,Silent,Synonymous_Q71Q,Synonymous_Q80Q,Silent,Synonymous_Q71Q,Silent,Synonymous_Q282Q exm105955 1 155160813 [G/C] NM_001204296,NM_001204288,NM_001044393,NM_001204287,NM_001044392,NM_001204295,NM_001018016,NM_001044390,NM_001204292,NM_001018017,NM_001204285,NM_001044391,NM_001204291,NM_001204290,NM_001204293,NM_001204297,NM_001204289,NM_002456,NM_001204294,NM_001204286 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_H238Q,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_H247Q exm105956 1 155160941 [T/C] NM_001204296,NM_001204288,NM_001044393,NM_001204287,NM_001044392,NM_001204295,NM_001018016,NM_001044390,NM_001204292,NM_001018017,NM_001204285,NM_001044391,NM_001204291,NM_001204290,NM_001204293,NM_001204297,NM_001204289,NM_002456,NM_001204294,NM_001204286 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G196S,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G205S exm105968 1 155162050 [A/C] NM_001204296,NM_001204288,NM_001044393,NM_001204287,NM_001044392,NM_001204295,NM_001018016,NM_001044390,NM_001204292,NM_001018017,NM_001204285,NM_001044391,NM_001204291,NM_001204290,NM_001204293,NM_001204297,NM_001204289,NM_002456,NM_001204294,NM_001204286 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Missense_S37I,Missense_S37I,Missense_S28I,Missense_S37I,Missense_S37I,Missense_S37I,Missense_S37I,Missense_S28I,Missense_S37I,Missense_S28I,Missense_S28I,Missense_S28I,Missense_S37I,Silent,Missense_S28I,Missense_S37I,Missense_S37I,Missense_S28I,Missense_S28I,Missense_S37I exm-rs4072037 1 155162067 [T/C] NM_001204296,NM_001204288,NM_001044393,NM_001204287,NM_001044392,NM_001204295,NM_001018016,NM_001044390,NM_001204292,NM_001018017,NM_001204285,NM_001044391,NM_001204291,NM_001204290,NM_001204293,NM_001204297,NM_001204289,NM_002456,NM_001204294,NM_001204286 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Synonymous_T31T,Synonymous_T31T,Synonymous_T22T,Synonymous_T31T,Synonymous_T31T,Synonymous_T31T,Synonymous_T31T,Synonymous_T22T,Synonymous_T31T,Synonymous_T22T,Synonymous_T22T,Synonymous_T22T,Synonymous_T31T,Silent,Synonymous_T22T,Synonymous_T31T,Synonymous_T31T,Synonymous_T22T,Synonymous_T22T,Synonymous_T31T rs4072037 1 155162067 [T/C] NM_001204296,NM_001204288,NM_001044393,NM_001204287,NM_001044392,NM_001204295,NM_001018016,NM_001044390,NM_001204292,NM_001018017,NM_001204285,NM_001044391,NM_001204291,NM_001204290,NM_001204293,NM_001204297,NM_001204289,NM_002456,NM_001204294,NM_001204286 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Synonymous_T31T,Synonymous_T31T,Synonymous_T22T,Synonymous_T31T,Synonymous_T31T,Synonymous_T31T,Synonymous_T31T,Synonymous_T22T,Synonymous_T31T,Synonymous_T22T,Synonymous_T22T,Synonymous_T22T,Synonymous_T31T,Silent,Synonymous_T22T,Synonymous_T31T,Synonymous_T31T,Synonymous_T22T,Synonymous_T22T,Synonymous_T31T exm105972 1 155162084 [G/C] NM_001204296,NM_001204288,NM_001044393,NM_001204287,NM_001044392,NM_001204295,NM_001018016,NM_001044390,NM_001204292,NM_001018017,NM_001204285,NM_001044391,NM_001204291,NM_001204290,NM_001204293,NM_001204297,NM_001204289,NM_002456,NM_001204294,NM_001204286 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Missense_P26A,Missense_P26A,Silent,Missense_P26A,Missense_P26A,Missense_P26A,Missense_P26A,Silent,Missense_P26A,Silent,Silent,Silent,Missense_P26A,Silent,Silent,Missense_P26A,Missense_P26A,Silent,Silent,Missense_P26A exm105973 1 155162102 [T/C] NM_001204296,NM_001204288,NM_001044393,NM_001204287,NM_001044392,NM_001204295,NM_001018016,NM_001044390,NM_001204292,NM_001018017,NM_001204285,NM_001044391,NM_001204291,NM_001204290,NM_001204293,NM_001204297,NM_001204289,NM_002456,NM_001204294,NM_001204286 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.7106 1 155165793 [A/G] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Nonsense_Q813X,Nonsense_Q933X,Silent,Nonsense_Q924X exm105993 1 155165892 [C/G] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Missense_L780V,Missense_L900V,Silent,Missense_L891V exm106010 1 155167337 [T/C] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Missense_V686I,Missense_V806I,Silent,Missense_V797I exm106019 1 155167435 [T/C] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Missense_N653S,Missense_N773S,Silent,Missense_N764S variant.7110 1 155168053 [T/C] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 Silent,Silent,Silent,Silent variant.7111 1 155168261 [A/C] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Nonsense_Y551X,Nonsense_Y671X,Silent,Nonsense_Y662X exm1717108 1 155169837 [A/G] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Synonymous_D472D,Synonymous_D592D,Silent,Synonymous_D583D newrs147564978 1 155170349 [T/G] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Nonsense_S414X,Nonsense_S534X,Silent,Nonsense_S525X exm106060 1 155170391 [T/C] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Missense_R400Q,Missense_R520Q,Silent,Missense_R511Q exm106061 1 155170392 [A/G] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Missense_R400W,Missense_R520W,Silent,Missense_R511W exm106068 1 155170989 [T/C] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Missense_V326M,Missense_V446M,Silent,Missense_V437M exm106076 1 155171810 [T/C] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Missense_D252N,Missense_D372N,Silent,Missense_D363N exm106082 1 155172066 [A/G] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Missense_R242W,Missense_R362W,Silent,Missense_R353W exm106083 1 155172080 [T/C] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Missense_G237D,Missense_G357D,Silent,Missense_G348D exm106091 1 155172629 [T/C] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Missense_G191S,Missense_G311S,Silent,Missense_G302S exm106093 1 155172725 [T/C] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Missense_S159G,Missense_S279G,Silent,Missense_S270G variant.7117 1 155172877 [T/C] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Missense_G150S,Missense_G270S,Silent,Missense_G261S exm106126 1 155175089 [T/C] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Silent,Missense_R102Q,Silent,Missense_R102Q indel.7121 1 155175992 [I/D] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON exm106132 1 155176044 [T/C] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Missense_R78H,Missense_R78H,Silent,Missense_R78H exm106134 1 155176080 [C/G] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Missense_P66R,Missense_P66R,Silent,Missense_P66R variant.7122 1 155177584 [T/C] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 Silent,Silent,Silent,Silent exm1717146 1 155177615 [A/C] NM_001252608,NM_007112,NR_045553,NM_001252607 THBS3,THBS3,THBS3,THBS3 EXON Missense_F18C,Missense_F18C,Silent,Missense_F18C exm106153 1 155178993 [G/C] NM_198883,NM_002455 MTX1,MTX1 EXON Missense_G133A,Missense_G133A exm106159 1 155180178 [C/G] NM_198883,NM_002455 MTX1,MTX1 EXON Missense_K190N,Missense_K190N var_1_155180209 1 155180210 [D/I] NM_198883,NM_002455 MTX1,MTX1 variant.7124 1 155180226 [A/G] NM_198883,NM_002455 MTX1,MTX1 Silent,Silent variant.7125 1 155180227 [A/G] NM_198883,NM_002455 MTX1,MTX1 Silent,Silent exm2268767 1 155194980 [T/C] NR_002188 GBAP1 Silent rs2049805 1 155194980 [T/C] NR_002188 GBAP1 Silent exm106204 1 155205047 [T/C] NM_001005741,NM_001005742,NM_000157,NM_001171812,NM_001171811 GBA,GBA,GBA,GBA,GBA EXON Missense_D482N,Missense_D482N,Missense_D482N,Missense_D433N,Missense_D395N exm106213 1 155205581 [T/C] NM_001005741,NM_001005742,NM_000157,NM_001171812,NM_001171811 GBA,GBA,GBA,GBA,GBA EXON Missense_E427K,Missense_E427K,Missense_E427K,Missense_E378K,Missense_E340K exm106217 1 155205634 [T/C] NM_001005741,NM_001005742,NM_000157,NM_001171812,NM_001171811 GBA,GBA,GBA,GBA,GBA EXON Missense_N409S,Missense_N409S,Missense_N409S,Missense_N360S,Missense_N322S exm106220 1 155206037 [A/G] NM_001005741,NM_001005742,NM_000157,NM_001171812,NM_001171811 GBA,GBA,GBA,GBA,GBA EXON Missense_T408M,Missense_T408M,Missense_T408M,Missense_T359M,Missense_T321M VG01S3109 1 155208378 [A/G] NM_001005741,NM_001005742,NM_000157,NM_001171812,NM_001171811 GBA,GBA,GBA,GBA,GBA EXON Missense_T173I,Missense_T173I,Missense_T173I,Missense_T124I,Missense_T86I exm106249 1 155209727 [T/C] NM_001005741,NM_001005742,NM_000157,NM_001171812,NM_001171811 GBA,GBA,GBA,GBA,GBA EXON Missense_R86Q,Missense_R86Q,Missense_R86Q,Missense_R86Q,Silent exm1717216 1 155210478 [T/C] NM_001005741,NM_001005742,NM_000157,NM_001171812,NM_001171811 GBA,GBA,GBA,GBA,GBA EXON Missense_I20V,Missense_I20V,Missense_I20V,Missense_I20V,Silent rs12034326 1 155214473 [A/G] NM_001005741,NM_001005742,NM_001171811 GBA,GBA,GBA EXON Silent,Silent,Silent exm106266 1 155217631 [C/G] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_R632P,Missense_R554P,Missense_R650P exm2275496 1 155217643 [T/C] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_R628H,Missense_R550H,Missense_R646H exm106267 1 155217659 [A/G] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_R623C,Missense_R545C,Missense_R641C exm106269 1 155217689 [T/C] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_G613R,Missense_G535R,Missense_G631R exm106273 1 155217724 [T/C] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_R601Q,Missense_R523Q,Missense_R619Q exm1717219 1 155217739 [T/C] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_R596Q,Missense_R518Q,Missense_R614Q exm106276 1 155217906 [A/G] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_R572C,Missense_R494C,Missense_R590C exm2231422 1 155217920 [T/C] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_R567Q,Missense_R489Q,Missense_R585Q exm106284 1 155218034 [A/C] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_R529L,Missense_R451L,Missense_R547L exm106286 1 155218067 [T/C] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_R518H,Missense_R440H,Missense_R536H exm106288 1 155218074 [A/G] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_L516F,Missense_L438F,Missense_L534F exm106290 1 155218094 [A/C] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_G509V,Missense_G431V,Missense_G527V exm106309 1 155220614 [T/C] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B Silent,Silent,Silent exm106315 1 155221353 [C/G] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_L260F,Missense_L182F,Missense_L278F exm106320 1 155221560 [T/G] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_P235Q,Missense_P157Q,Missense_P253Q exm1717234 1 155221613 [T/C] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_M217I,Missense_M139I,Missense_M235I var_1_155223422 1 155223422 [I/D] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON exm106334 1 155223469 [A/G] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_L171F,Missense_L94F,Missense_L190F exm106335 1 155223484 [T/C] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_A166T,Missense_A89T,Missense_A185T exm106347 1 155223978 [A/G] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_F78S,Silent,Missense_F97S variant.7139 1 155223987 [T/G] NM_001267608,NM_198264,NM_006589 FAM189B,FAM189B,FAM189B Silent,Silent,Silent exm106362 1 155226107 [T/C] NM_052837,NM_005698 SCAMP3,SCAMP3 EXON Missense_N308S,Missense_N334S exm106372 1 155226571 [G/C] NM_052837,NM_005698 SCAMP3,SCAMP3 EXON Missense_S238C,Missense_S264C variant.7144 1 155228612 [T/C] NM_052837,NM_005698 SCAMP3,SCAMP3 Silent,Silent indel.7145 1 155228718 [D/I] NM_052837,NM_005698 SCAMP3,SCAMP3 EXON variant.7146 1 155228747 [T/C] NM_052837,NM_005698 SCAMP3,SCAMP3 Silent,Silent exm-rs1142287 1 155230131 [T/C] NM_052837,NM_005698 SCAMP3,SCAMP3 EXON Synonymous_G100G,Synonymous_G126G exm106398 1 155230432 [A/G] NM_052837,NM_005698 SCAMP3,SCAMP3 EXON Missense_P29S,Missense_P55S exm106406 1 155231510 [A/G] NM_052837,NM_005698 SCAMP3,SCAMP3 EXON Silent,Nonsense_Q28X exm106411 1 155231927 [T/C] NM_052837,NM_005698 SCAMP3,SCAMP3 EXON Missense_D6N,Missense_D6N exm106424 1 155233763 [T/C] NM_001294338,NM_001294339,NM_003993,NM_001363704 CLK2,CLK2,CLK2,CLK2 EXON Missense_R432H,Missense_R204H,Missense_R431H,Missense_R430H exm106438 1 155237803 [C/G] NM_001294338,NM_001294339,NM_003993,NM_001363704 CLK2,CLK2,CLK2,CLK2 EXON Missense_K223N,Silent,Missense_K222N,Missense_K221N exm106467 1 155240602 [T/C] NM_001294338,NM_001294339,NM_003993,NM_001363704 CLK2,CLK2,CLK2,CLK2 EXON Missense_R56Q,Silent,Missense_R56Q,Missense_R56Q exm106468 1 155240609 [A/G] NM_001294338,NM_001294339,NM_003993,NM_001363704 CLK2,CLK2,CLK2,CLK2 EXON Missense_R54C,Silent,Missense_R54C,Missense_R54C exm106470 1 155240635 [T/C] NM_001294338,NM_001294339,NM_003993,NM_001363704 CLK2,CLK2,CLK2,CLK2 EXON Missense_R45H,Silent,Missense_R45H,Missense_R45H exm106472 1 155240656 [G/C] NM_001294338,NM_001294339,NM_003993,NM_001363704 CLK2,CLK2,CLK2,CLK2 EXON Missense_S38T,Silent,Missense_S38T,Missense_S38T exm106479 1 155247518 [A/G] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_R46K exm106483 1 155247587 [A/G] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_K69R exm106504 1 155253820 [T/C] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_I255T exm106511 1 155254411 [T/G] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_A318S exm106514 1 155254459 [A/G] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_V334I exm1717319 1 155255014 [A/G] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_R383H exm106529 1 155255098 [A/G] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_R411H exm106534 1 155255611 [T/C] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_R445C exm106536 1 155255630 [T/C] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_P451L exm106540 1 155255659 [A/G] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_V461M exm106541 1 155255673 [A/G] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_M465I exm106543 1 155255701 [A/G] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_V475M exm106546 1 155255719 [T/C] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_R481W rs11264352 1 155255837 [T/C] NR_073074,NM_020897 HCN3,HCN3 Silent,Silent exm106550 1 155257018 [A/G] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_Y511C exm106554 1 155257087 [A/G] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_R534Q exm106560 1 155257596 [A/G] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_R556Q exm106561 1 155257607 [A/G] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_E560K exm106562 1 155257646 [T/C] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_H573Y exm106563 1 155257676 [T/C] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_R583W exm106564 1 155257692 [A/G] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_R588Q exm106567 1 155257818 [T/C] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_P630L exm106589 1 155258226 [A/G] NR_073074,NM_020897 HCN3,HCN3 EXON Silent,Missense_R766Q exm106593 1 155260382 [T/C] NM_181871,NM_000298 PKLR,PKLR EXON Missense_R538Q,Missense_R569Q exm106599 1 155261551 [T/A] NM_181871,NM_000298 PKLR,PKLR EXON Missense_E507D,Missense_E538D exm106601 1 155261613 [A/G] NM_181871,NM_000298 PKLR,PKLR EXON Missense_R487C,Missense_R518C exm106603 1 155261636 [T/C] NM_181871,NM_000298 PKLR,PKLR EXON Missense_R479Q,Missense_R510Q exm106605 1 155261649 [T/C] NM_181871,NM_000298 PKLR,PKLR EXON Missense_V475I,Missense_V506I exm106607 1 155261709 [A/G] NM_181871,NM_000298 PKLR,PKLR EXON Missense_R455W,Missense_R486W exm106609 1 155262969 [A/G] NM_181871,NM_000298 PKLR,PKLR EXON Missense_R448C,Missense_R479C exm1717354 1 155263025 [A/G] NM_181871,NM_000298 PKLR,PKLR EXON Missense_V429A,Missense_V460A newrs8177982 1 155263186 [A/G] NM_181871,NM_000298 PKLR,PKLR Silent,Silent exm106625 1 155264067 [A/G] NM_181871,NM_000298 PKLR,PKLR EXON Missense_R328C,Missense_R359C exm1717363 1 155264149 [A/G] NM_181871,NM_000298 PKLR,PKLR EXON Synonymous_D300D,Synonymous_D331D exm106628 1 155264320 [T/G] NM_181871,NM_000298 PKLR,PKLR EXON Missense_H275Q,Missense_H306Q exm2273698 1 155264331 [G/C] NM_181871,NM_000298 PKLR,PKLR EXON Missense_P272A,Missense_P303A exm106631 1 155264409 [T/C] NM_181871,NM_000298 PKLR,PKLR EXON Missense_E246K,Missense_E277K exm106633 1 155264424 [C/G] NM_181871,NM_000298 PKLR,PKLR EXON Missense_L241V,Missense_L272V exm1717366 1 155264433 [A/C] NM_181871,NM_000298 PKLR,PKLR EXON Missense_V238F,Missense_V269F exm106651 1 155265228 [T/C] NM_181871,NM_000298 PKLR,PKLR EXON Synonymous_G138G,Synonymous_G169G exm106652 1 155265230 [A/C] NM_181871,NM_000298 PKLR,PKLR EXON Missense_G138W,Missense_G169W rs3020781 1 155269776 [A/G] NM_181871,NM_000298 PKLR,PKLR Silent,Silent exm106665 1 155269955 [A/G] NM_181871,NM_000298 PKLR,PKLR EXON Missense_L42F,Missense_L73F var_1_155271077 1 155271077 [T/C] NM_000298 PKLR Silent exm106672 1 155271095 [A/G] NM_000298 PKLR EXON Missense_A31V exm106682 1 155279627 [T/C] NM_002004,NM_001135822,NM_001242824,NM_001242825,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Missense_P16L,Silent,Silent,Silent,Missense_P16L exm106685 1 155279722 [T/C] NM_002004,NM_001135822,NM_001242824,NM_001242825,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Missense_R48C,Silent,Silent,Silent,Missense_R48C var_1_155279854 1 155279854 [A/G] NM_002004,NM_001135822,NM_001242824,NM_001242825,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Missense_R66K,Silent,Silent,Silent,Missense_R66K exm106694 1 155282065 [T/C] NM_002004,NM_001135822,NM_001242824,NM_001242825,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Missense_I120T,Missense_I54T,Missense_I54T,Silent,Missense_I120T rs11264359 1 155282829 [A/G] NM_002004,NM_001135822,NM_001242824,NM_001242825,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS Silent,Silent,Silent,Silent,Silent exm1717397 1 155288061 [A/C] NM_002004,NM_001135822,NM_001242824,NM_001242825,NM_001135821,NR_145425,NR_145424 FDPS,FDPS,FDPS,FDPS,FDPS,RUSC1-AS1,RUSC1-AS1 EXON Missense_N221K,Missense_N155K,Missense_N155K,Missense_N50K,Missense_N221K,Silent,Silent exm106707 1 155289424 [A/C] NM_002004,NM_001135822,NM_001242824,NM_001242825,NM_001135821,NR_145425,NR_145424 FDPS,FDPS,FDPS,FDPS,FDPS,RUSC1-AS1,RUSC1-AS1 EXON Missense_E290A,Missense_E224A,Missense_E224A,Missense_E119A,Missense_E290A,Silent,Silent exm1717405 1 155289607 [C/G] NM_002004,NM_001135822,NM_001242824,NM_001242825,NM_001135821,NR_145425,NR_145424 FDPS,FDPS,FDPS,FDPS,FDPS,RUSC1-AS1,RUSC1-AS1 EXON Missense_G316A,Missense_G250A,Missense_G250A,Missense_G145A,Missense_G316A,Silent,Silent exm106714 1 155290231 [T/C] NM_002004,NM_001135822,NM_001242824,NM_001242825,NM_001135821,NR_145425,NR_145424,NR_145426 FDPS,FDPS,FDPS,FDPS,FDPS,RUSC1-AS1,RUSC1-AS1,RUSC1-AS1 EXON Missense_V364A,Missense_V298A,Missense_V298A,Missense_V193A,Missense_V364A,Silent,Silent,Silent exm106716 1 155290261 [T/A] NM_002004,NM_001135822,NM_001242824,NM_001242825,NM_001135821,NR_145425,NR_145424,NR_145426 FDPS,FDPS,FDPS,FDPS,FDPS,RUSC1-AS1,RUSC1-AS1,RUSC1-AS1 EXON Missense_L374Q,Missense_L308Q,Missense_L308Q,Missense_L203Q,Missense_L374Q,Silent,Silent,Silent exm106720 1 155290587 [T/G] NR_145425,NR_145424,NR_145426 RUSC1-AS1,RUSC1-AS1,RUSC1-AS1 EXON Silent,Silent,Silent exm1717411 1 155290685 [A/G] NR_145425,NR_145424,NR_145426,NM_001105204,NM_001105203 RUSC1-AS1,RUSC1-AS1,RUSC1-AS1,RUSC1,RUSC1 EXON Silent,Silent,Silent,Silent,Silent exm106738 1 155291050 [T/C] NR_145425,NR_145424,NR_145426,NM_001105204,NM_001105203 RUSC1-AS1,RUSC1-AS1,RUSC1-AS1,RUSC1,RUSC1 EXON Silent,Silent,Silent,Silent,Silent exm106749 1 155291263 [T/G] NR_145425,NR_145424,NR_145426,NM_001105204,NM_001105203 RUSC1-AS1,RUSC1-AS1,RUSC1-AS1,RUSC1,RUSC1 EXON Silent,Silent,Silent,Silent,Silent exm106755 1 155291772 [T/C] NR_145425,NR_145424,NR_145426,NM_001105204,NM_001105203 RUSC1-AS1,RUSC1-AS1,RUSC1-AS1,RUSC1,RUSC1 EXON Silent,Silent,Silent,Missense_P70S,Missense_P70S exm106760 1 155291904 [C/G] NR_145425,NR_145424,NR_145426,NM_001105204,NM_001105203 RUSC1-AS1,RUSC1-AS1,RUSC1-AS1,RUSC1,RUSC1 EXON Silent,Silent,Silent,Missense_P114A,Missense_P114A variant.7191 1 155292230 [T/C] NR_145425,NR_145424,NR_145426,NM_001105204,NM_001105203 RUSC1-AS1,RUSC1-AS1,RUSC1-AS1,RUSC1,RUSC1 EXON Silent,Silent,Silent,Synonymous_A222A,Synonymous_A222A exm106774 1 155292541 [G/C] NR_145425,NR_145424,NR_145426,NM_001105204,NM_001105203 RUSC1-AS1,RUSC1-AS1,RUSC1-AS1,RUSC1,RUSC1 EXON Silent,Silent,Silent,Missense_G326A,Missense_G326A exm106776 1 155292624 [G/C] NR_145425,NR_145424,NR_145426,NM_001105204,NM_001105203 RUSC1-AS1,RUSC1-AS1,RUSC1-AS1,RUSC1,RUSC1 EXON Silent,Silent,Silent,Missense_P354A,Missense_P354A exm106789 1 155292708 [C/G] NR_145425,NR_145424,NR_145426,NM_001105204,NM_001105203 RUSC1-AS1,RUSC1-AS1,RUSC1-AS1,RUSC1,RUSC1 EXON Silent,Silent,Silent,Missense_A382P,Missense_A382P exm106809 1 155294666 [T/C] NM_001105204,NM_001105203,NM_001105205,NM_014328,NM_001278229,NM_001278227,NM_001278228,NM_001278230,NR_103478 RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1 EXON Missense_P463L,Missense_P463L,Missense_P53L,Silent,Silent,Silent,Silent,Silent,Silent exm106817 1 155294914 [T/C] NM_001105204,NM_001105203,NM_001105205,NM_014328,NM_001278229,NM_001278227,NM_001278228,NM_001278230,NR_103478 RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1 EXON Missense_V493A,Missense_V493A,Missense_V83A,Missense_V24A,Missense_V24A,Missense_V24A,Silent,Missense_V24A,Silent exm106828 1 155295405 [G/C] NM_001105204,NM_001105203,NM_001105205,NM_014328,NM_001278229,NM_001278227,NM_001278228,NM_001278230,NR_103478 RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1 EXON Missense_L586V,Missense_L586V,Missense_L176V,Missense_L117V,Missense_L117V,Missense_L84V,Missense_L111V,Missense_L117V,Silent exm106831 1 155295681 [T/C] NM_001105204,NM_001105203,NM_001105205,NM_014328,NM_001278229,NM_001278227,NM_001278228,NM_001278230,NR_103478 RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1 EXON Missense_S614F,Missense_S614F,Missense_S204F,Missense_S145F,Missense_S145F,Missense_S112F,Missense_S139F,Missense_S145F,Silent exm106838 1 155296440 [C/G] NM_001105204,NM_001105203,NM_001105205,NM_014328,NM_001278229,NM_001278227,NM_001278228,NM_001278230,NR_103478 RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1 EXON Silent,Missense_S644C,Missense_S234C,Missense_S175C,Silent,Missense_S142C,Missense_S169C,Missense_S175C,Silent exm106854 1 155297960 [A/C] NM_001105204,NM_001105203,NM_001105205,NM_014328,NM_001278229,NM_001278227,NM_001278228,NM_001278230,NR_103478 RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1 EXON Missense_P706T,Missense_P812T,Missense_P402T,Missense_P343T,Missense_P237T,Missense_P310T,Missense_P337T,Missense_P343T,Silent exm106857 1 155297994 [A/G] NM_001105204,NM_001105203,NM_001105205,NM_014328,NM_001278229,NM_001278227,NM_001278228,NM_001278230,NR_103478 RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1 EXON Missense_R717Q,Missense_R823Q,Missense_R413Q,Missense_R354Q,Missense_R248Q,Missense_R321Q,Missense_R348Q,Missense_R354Q,Silent exm106858 1 155297999 [A/G] NM_001105204,NM_001105203,NM_001105205,NM_014328,NM_001278229,NM_001278227,NM_001278228,NM_001278230,NR_103478 RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1 EXON Missense_A719T,Missense_A825T,Missense_A415T,Missense_A356T,Missense_A250T,Missense_A323T,Missense_A350T,Missense_A356T,Silent exm106866 1 155300291 [T/G] NM_001105204,NM_001105203,NM_001105205,NM_014328,NM_001278229,NM_001278227,NM_001278228,NM_001278230,NR_103478 RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1,RUSC1 EXON Missense_D774Y,Missense_D880Y,Missense_D470Y,Missense_D411Y,Missense_D305Y,Missense_D378Y,Missense_D405Y,Missense_D411Y,Silent exm106875 1 155307459 [A/G] NM_018489 ASH1L EXON Nonsense_R2963X exm106885 1 155308021 [T/C] NM_018489 ASH1L EXON Missense_V2888I exm106889 1 155309128 [T/C] NM_018489 ASH1L EXON Missense_N2831S exm106894 1 155311840 [A/C] NM_018489 ASH1L EXON Missense_D2783Y exm106920 1 155317682 [T/C] NM_018489 ASH1L EXON Missense_R2523H variant.7199 1 155340563 [T/C] NM_018489 ASH1L Silent exm106962 1 155340670 [T/C] NM_018489 ASH1L EXON Missense_R2146Q indel.7200 1 155349829 [D/I] NM_018489 ASH1L exm106969 1 155385602 [A/G] NM_018489 ASH1L EXON Missense_P1981S exm106972 1 155385662 [A/G] NM_018489 ASH1L EXON Missense_P1961S exm106973 1 155408125 [T/C] NM_018489 ASH1L EXON Missense_N1941D exm106981 1 155408493 [A/G] NM_018489 ASH1L EXON Missense_A1818V exm106989 1 155408635 [T/C] NM_018489 ASH1L EXON Missense_T1771A exm106992 1 155408644 [A/G] NM_018489 ASH1L EXON Missense_P1768S exm106994 1 155408686 [T/A] NM_018489 ASH1L EXON Missense_S1754C rs11264371 1 155412037 [T/C] NM_018489 ASH1L Silent exm107007 1 155447818 [T/C] NM_018489 ASH1L EXON Missense_R1615G exm107009 1 155447868 [A/G] NM_018489 ASH1L EXON Missense_A1598V exm107019 1 155448157 [T/C] NM_018489 ASH1L EXON Missense_M1502V exm1717614 1 155448300 [G/C] NM_018489 ASH1L EXON Missense_T1454R exm107025 1 155448415 [A/G] NM_018489 ASH1L EXON Missense_S1416P exm2231436 1 155448901 [A/G] NM_018489 ASH1L EXON Missense_R1254C exm107052 1 155449342 [T/C] NM_018489 ASH1L EXON Missense_I1107V exm2231438 1 155449591 [T/C] NM_018489 ASH1L EXON Missense_S1024G exm107063 1 155449673 [T/A] NM_018489 ASH1L EXON Missense_K996N exm107078 1 155450331 [T/C] NM_018489 ASH1L EXON Missense_R777H exm107090 1 155450838 [T/C] NM_018489 ASH1L EXON Missense_S608N exm107094 1 155450938 [A/C] NM_018489 ASH1L EXON Missense_S575A exm107109 1 155451343 [A/C] NM_018489 ASH1L EXON Missense_C440G exm107111 1 155451382 [T/C] NM_018489 ASH1L EXON Missense_E427K exm107126 1 155451810 [A/G] NM_018489 ASH1L EXON Missense_T284I exm1717634 1 155451832 [T/C] NM_018489 ASH1L EXON Missense_S277G exm107138 1 155452072 [A/G] NM_018489 ASH1L EXON Missense_L197F rs10158433 1 155478686 [T/C] NM_018489 ASH1L Silent rs6688636 1 155478897 [T/C] NM_018489 ASH1L Silent exm107147 1 155490964 [A/G] NM_018489 ASH1L EXON Missense_I116T exm107155 1 155491157 [A/G] NM_018489 ASH1L EXON Missense_R52W rs12746592 1 155505967 [A/G] NM_018489 ASH1L Silent exm2259814 1 155508882 [A/G] NM_018489 ASH1L Silent rs1556488 1 155540660 [T/G] exm107170 1 155581038 [T/C] NR_046294,NM_001350779,NM_001350775,NR_146908,NM_001350772,NM_001350777,NM_001350783,NM_001350788,NM_001350789,NM_001350784,NR_046293,NM_001350785,NM_001350776,NM_001350778,NM_001350786,NM_001350787,NR_046295,NM_001350781,NM_001256533,NM_001256532,NR_146907,NM_018116,NM_001350774,NM_001350773,NM_001350780,NM_001350782,NR_046292,NR_024117 MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO2P EXON Silent,Silent,Missense_L108F,Silent,Missense_L108F,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T12I,Silent,Silent,Silent,Silent,Silent,Missense_L108F,Missense_L108F,Silent,Missense_L108F,Missense_L108F,Missense_L108F,Silent,Silent,Silent,Silent indel.7201 1 155581971 [I/D] NR_046294,NM_001350779,NM_001350775,NR_146908,NM_001350772,NM_001350777,NM_001350783,NM_001350788,NM_001350789,NM_001350784,NR_046293,NM_001350785,NM_001350776,NM_001350778,NM_001350786,NM_001350787,NR_046295,NM_001350781,NM_001256533,NM_001256532,NR_146907,NM_018116,NM_001350774,NM_001350773,NM_001350780,NM_001350782,NR_046292,NR_024117 MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO2P exm107191 1 155582228 [A/G] NR_046294,NM_001350779,NM_001350775,NR_146908,NM_001350772,NM_001350777,NM_001350783,NM_001350788,NM_001350789,NM_001350784,NR_046293,NM_001350785,NM_001350776,NM_001350778,NM_001350786,NM_001350787,NR_046295,NM_001350781,NM_001256533,NM_001256532,NR_146907,NM_018116,NM_001350774,NM_001350773,NM_001350780,NM_001350782,NR_046292,NR_024117 MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO2P EXON Silent,Missense_Y101C,Missense_Y278C,Silent,Missense_Y278C,Missense_Y101C,Missense_Y100C,Missense_Y100C,Missense_Y97C,Missense_Y97C,Silent,Missense_Y97C,Missense_Y223C,Missense_Y101C,Missense_Y100C,Missense_Y97C,Silent,Missense_Y100C,Missense_Y278C,Missense_Y278C,Silent,Missense_Y278C,Missense_Y278C,Missense_Y278C,Missense_Y100C,Missense_Y100C,Silent,Silent exm107192 1 155582257 [A/G] NR_046294,NM_001350779,NM_001350775,NR_146908,NM_001350772,NM_001350777,NM_001350783,NM_001350788,NM_001350789,NM_001350784,NR_046293,NM_001350785,NM_001350776,NM_001350778,NM_001350786,NM_001350787,NR_046295,NM_001350781,NM_001256533,NM_001256532,NR_146907,NM_018116,NM_001350774,NM_001350773,NM_001350780,NM_001350782,NR_046292,NR_024117 MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO2P EXON Silent,Missense_V111M,Missense_V288M,Silent,Missense_V288M,Missense_V111M,Missense_V110M,Missense_V110M,Missense_V107M,Missense_V107M,Silent,Missense_V107M,Missense_V233M,Missense_V111M,Missense_V110M,Missense_V107M,Silent,Missense_V110M,Missense_V288M,Missense_V288M,Silent,Missense_V288M,Missense_V288M,Missense_V288M,Missense_V110M,Missense_V110M,Silent,Silent exm107200 1 155582326 [A/G] NR_046294,NM_001350779,NM_001350775,NR_146908,NM_001350772,NM_001350777,NM_001350783,NM_001350788,NM_001350789,NM_001350784,NR_046293,NM_001350785,NM_001350776,NM_001350778,NM_001350786,NM_001350787,NR_046295,NM_001350781,NM_001256533,NM_001256532,NR_146907,NM_018116,NM_001350774,NM_001350773,NM_001350780,NM_001350782,NR_046292,NR_024117 MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO2P EXON Silent,Missense_E134K,Missense_E311K,Silent,Missense_E311K,Missense_E134K,Missense_E133K,Missense_E133K,Missense_E130K,Missense_E130K,Silent,Missense_E130K,Missense_E256K,Missense_E134K,Missense_E133K,Missense_E130K,Silent,Missense_E133K,Missense_E311K,Missense_E311K,Silent,Missense_E311K,Missense_E311K,Missense_E311K,Missense_E133K,Missense_E133K,Silent,Silent exm107211 1 155583002 [A/G] NR_046294,NM_001350779,NM_001350775,NR_146908,NM_001350772,NM_001350777,NM_001350783,NM_001350788,NM_001350789,NM_001350784,NR_046293,NM_001350785,NM_001350776,NM_001350778,NM_001350786,NM_001350787,NR_046295,NM_001350781,NM_001256533,NM_001256532,NR_146907,NM_018116,NM_001350774,NM_001350773,NM_001350780,NM_001350782,NR_046292,NR_024117 MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO2P EXON Silent,Missense_I244V,Missense_I421V,Silent,Missense_I421V,Missense_I244V,Missense_I243V,Missense_I243V,Missense_I240V,Missense_I240V,Silent,Missense_I240V,Missense_I366V,Missense_I244V,Missense_I243V,Missense_I240V,Silent,Missense_I243V,Missense_I421V,Missense_I421V,Silent,Missense_I421V,Missense_I421V,Missense_I421V,Missense_I243V,Missense_I243V,Silent,Silent rs2175391 1 155625602 [T/G] rs601103 1 155628219 [A/G] indel.7204 1 155629583 [I/D] NM_139119,NM_139118,NM_001198899,NM_001198904,NM_018253,NM_001198902,NM_001198906,NM_139121,NM_001198905,NM_001198901,NM_001198900,NM_001198903 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON exm107251 1 155629930 [T/C] NM_139119,NM_139118,NM_001198899,NM_001198904,NM_018253,NM_001198902,NM_001198906,NM_139121,NM_001198905,NM_001198901,NM_001198900,NM_001198903 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Missense_A591T,Missense_A637T,Missense_A580T,Missense_A709T,Missense_A580T,Missense_A591T,Silent,Missense_A525T,Missense_A571T,Missense_A591T,Missense_A580T,Missense_A729T exm107288 1 155630509 [A/G] NM_139119,NM_139118,NM_001198899,NM_001198904,NM_018253,NM_001198902,NM_001198906,NM_139121,NM_001198905,NM_001198901,NM_001198900,NM_001198903 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Missense_R398C,Missense_R444C,Missense_R387C,Missense_R516C,Missense_R387C,Missense_R398C,Silent,Missense_R332C,Missense_R378C,Missense_R398C,Missense_R387C,Missense_R536C rs3738590 1 155630752 [A/G] NM_139119,NM_139118,NM_001198899,NM_001198904,NM_018253,NM_001198902,NM_001198906,NM_139121,NM_001198905,NM_001198901,NM_001198900,NM_001198903 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm107314 1 155640115 [T/C] NM_139119,NM_139118,NM_001198899,NM_001198904,NM_018253,NM_001198902,NM_001198906,NM_139121,NM_001198905,NM_001198901,NM_001198900,NM_001198903 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Missense_D242N,Missense_D308N,Missense_D231N,Missense_D380N,Missense_D231N,Missense_D242N,Missense_D308N,Missense_D176N,Missense_D242N,Missense_D242N,Missense_D231N,Missense_D380N indel.7210 1 155642431 [I/D] NM_139119,NM_139118,NM_001198899,NM_001198904,NM_018253,NM_001198902,NM_001198906,NM_139121,NM_001198905,NM_001198901,NM_001198900,NM_001198903 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON rs617232 1 155643147 [A/G] NM_139119,NM_139118,NM_001198899,NM_001198904,NM_018253,NM_001198902,NM_001198906,NM_139121,NM_001198905,NM_001198901,NM_001198900,NM_001198903 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm107333 1 155649220 [T/A] NM_139119,NM_139118,NM_001198899,NM_001198904,NM_018253,NM_001198902,NM_001198906,NM_139121,NM_001198905,NM_001198901,NM_001198900,NM_001198903 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Missense_F35L,Missense_F101L,Missense_F24L,Missense_F173L,Missense_F24L,Missense_F35L,Missense_F101L,Silent,Missense_F35L,Missense_F35L,Missense_F24L,Missense_F173L exm107334 1 155649223 [C/G] NM_139119,NM_139118,NM_001198899,NM_001198904,NM_018253,NM_001198902,NM_001198906,NM_139121,NM_001198905,NM_001198901,NM_001198900,NM_001198903 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Missense_N34K,Missense_N100K,Missense_N23K,Missense_N172K,Missense_N23K,Missense_N34K,Missense_N100K,Silent,Missense_N34K,Missense_N34K,Missense_N23K,Missense_N172K exm107337 1 155650207 [A/C] NM_139119,NM_139118,NM_001198904,NM_018253,NM_001198902,NM_001198906,NM_139121,NM_001198905,NM_001198901,NM_001198900,NM_001198903 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Synonymous_T7T,Synonymous_T73T,Synonymous_T145T,Silent,Synonymous_T7T,Synonymous_T73T,Silent,Synonymous_T7T,Synonymous_T7T,Silent,Synonymous_T145T rs649147 1 155656398 [A/G] NM_139119,NM_139118,NM_001198904,NM_018253,NM_001198902,NM_001198906,NM_139121,NM_001198905,NM_001198901,NM_001198900,NM_001198903 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1717783 1 155658015 [A/G] NM_139119,NM_139118,NM_001198904,NM_018253,NM_001198902,NM_001198906,NM_139121,NM_001198905,NM_001198901,NM_001198900,NM_001198903 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Silent,Silent,Missense_L81F,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L81F rs512551 1 155658672 [A/G] NM_139118,NM_001198906,NM_139121,NM_001198901 YY1AP1,YY1AP1,YY1AP1,YY1AP1 Silent,Silent,Silent,Silent exm107362 1 155658730 [T/C] NM_139118,NM_001198906,NM_139121,NM_001198901 YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Missense_N13S,Missense_N13S,Silent,Silent exm107368 1 155679584 [A/G] NM_001199849,NM_001199850,NM_001199851,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_G5E,Missense_G5E,Missense_G5E,Missense_G5E,Missense_G5E rs348200 1 155683848 [A/G] NM_001199849,NM_001199850,NM_001199851,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 Silent,Silent,Silent,Silent,Silent exm107370 1 155686836 [T/C] NM_001199849,NM_001199850,NM_001199851,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_R29C,Missense_R29C,Silent,Missense_R29C,Missense_R29C exm107372 1 155686845 [A/C] NM_001199849,NM_001199850,NM_001199851,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_I32L,Missense_I32L,Silent,Missense_I32L,Missense_I32L exm107375 1 155686867 [A/G] NM_001199849,NM_001199850,NM_001199851,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_Q39R,Missense_Q39R,Silent,Missense_Q39R,Missense_Q39R newrs148684040 1 155686919 [A/G] NM_001199849,NM_001199850,NM_001199851,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Synonymous_P56P,Synonymous_P56P,Silent,Synonymous_P56P,Synonymous_P56P rs621181 1 155687232 [T/C] NM_001199849,NM_001199850,NM_001199851,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 Silent,Silent,Silent,Silent,Silent exm2275497 1 155691351 [A/C] NM_001199849,NM_001199850,NM_001199851,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_S71Y,Silent,Missense_S30Y,Missense_S71Y,Missense_S71Y rs13376498 1 155695054 [A/G] NM_001199849,NM_001199850,NM_001199851,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 Silent,Silent,Silent,Silent,Silent exm107406 1 155699005 [A/G] NM_001199849,NM_001199850,NM_001199851,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_T231A,Missense_T197A,Missense_T190A,Missense_T231A,Missense_T231A exm107409 1 155699030 [G/C] NM_001199849,NM_001199850,NM_001199851,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_A239G,Missense_A205G,Missense_A198G,Missense_A239G,Missense_A239G exm107410 1 155699032 [T/G] NM_001199849,NM_001199850,NM_001199851,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_V240F,Missense_V206F,Missense_V199F,Missense_V240F,Missense_V240F newrs145213844 1 155699158 [A/G] NM_001199849,NM_001199850,NM_001199851,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 Silent,Silent,Silent,Silent,Silent exm107428 1 155706817 [G/C] NM_001199849,NM_001199850,NM_001199851,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_Q358H,Missense_Q324H,Missense_Q317H,Missense_Q358H,Missense_Q358H indel.7222 1 155706855 [I/D] NM_001199849,NM_001199850,NM_001199851,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 variant.7223 1 155706856 [T/C] NM_001199849,NM_001199850,NM_001199851,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 Silent,Silent,Silent,Silent,Silent rs10908481 1 155713650 [T/G] exm107460 1 155723008 [C/G] NM_001282858,NM_001282860,NM_001282856 GON4L,GON4L,GON4L EXON Missense_E1943D,Missense_E1943D,Missense_E1943D exm1717858 1 155723141 [T/C] NM_001282858,NM_001282860,NM_001282856 GON4L,GON4L,GON4L EXON Missense_R1899Q,Missense_R1899Q,Missense_R1899Q exm107467 1 155724185 [A/C] NM_001282858,NM_001282860,NM_001282856 GON4L,GON4L,GON4L EXON Missense_C1871F,Missense_C1871F,Missense_C1871F rs11803678 1 155725531 [A/C] NM_001282858,NM_001282860,NM_001282856 GON4L,GON4L,GON4L Silent,Silent,Silent rs16837037 1 155726290 [T/C] NM_001282858,NM_001282860,NM_001282856 GON4L,GON4L,GON4L Silent,Silent,Silent variant.7225 1 155726748 [T/C] NM_001282858,NM_001282860,NM_001282856 GON4L,GON4L,GON4L Silent,Silent,Silent variant.7226 1 155730230 [T/C] NM_001282858,NM_001282860,NM_001282856 GON4L,GON4L,GON4L Silent,Silent,Silent exm107480 1 155730411 [T/A] NM_001282858,NM_001282860,NM_001282856 GON4L,GON4L,GON4L EXON Missense_I1645F,Missense_I1645F,Missense_I1645F exm107501 1 155734699 [T/C] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Silent,Silent,Silent,Missense_D1522G,Missense_D1522G exm107506 1 155734742 [A/G] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Silent,Silent,Silent,Missense_Y1508H,Missense_Y1508H exm107508 1 155734759 [T/C] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Silent,Silent,Silent,Missense_R1502H,Missense_R1502H exm107515 1 155735012 [T/C] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Missense_M1418V,Missense_M1418V,Missense_M1418V,Missense_M1418V,Missense_M1418V exm107519 1 155735239 [T/C] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Missense_R1342H,Missense_R1342H,Missense_R1342H,Missense_R1342H,Missense_R1342H exm1717895 1 155735832 [G/C] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Missense_I1144M,Missense_I1144M,Missense_I1144M,Missense_I1144M,Missense_I1144M exm107542 1 155735885 [A/C] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Missense_A1127S,Missense_A1127S,Missense_A1127S,Missense_A1127S,Missense_A1127S exm107543 1 155735887 [T/G] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Missense_K1126T,Missense_K1126T,Missense_K1126T,Missense_K1126T,Missense_K1126T exm107549 1 155735960 [T/G] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Missense_L1102M,Missense_L1102M,Missense_L1102M,Missense_L1102M,Missense_L1102M exm107611 1 155746214 [A/G] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Missense_P717L,Missense_P717L,Missense_P717L,Missense_P717L,Missense_P717L exm1717910 1 155746229 [T/G] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Missense_N712T,Missense_N712T,Missense_N712T,Missense_N712T,Missense_N712T exm107614 1 155746245 [C/G] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Missense_L707V,Missense_L707V,Missense_L707V,Missense_L707V,Missense_L707V variant.7228 1 155755125 [A/C] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Synonymous_T596T,Synonymous_T596T,Synonymous_T596T,Synonymous_T596T,Synonymous_T596T exm107634 1 155774763 [A/G] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Missense_M541T,Missense_M541T,Missense_M541T,Missense_M541T,Missense_M541T variant.7230 1 155774905 [A/G] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Nonsense_R494X,Nonsense_R494X,Nonsense_R494X,Nonsense_R494X,Nonsense_R494X exm107649 1 155784156 [T/C] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Missense_T416A,Missense_T416A,Missense_T416A,Missense_T416A,Missense_T416A exm107651 1 155784173 [T/C] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Missense_R410K,Missense_R410K,Missense_R410K,Missense_R410K,Missense_R410K rs822490 1 155822971 [T/C] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L Silent,Silent,Silent,Silent,Silent exm107675 1 155823124 [A/G] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Missense_L150F,Missense_L150F,Missense_L150F,Missense_L150F,Missense_L150F exm107677 1 155823151 [T/C] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Missense_V141I,Missense_V141I,Missense_V141I,Missense_V141I,Missense_V141I indel.7231 1 155823239 [I/D] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON exm107688 1 155823496 [T/C] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON Missense_V26I,Missense_V26I,Missense_V26I,Missense_V26I,Missense_V26I indel.7232 1 155823548 [D/I] NM_001282858,NM_001282860,NM_001282856,NM_001282861,NM_032292 GON4L,GON4L,GON4L,GON4L,GON4L EXON rs1627630 1 155828911 [T/C] NM_001282856 GON4L Silent exm107700 1 155837843 [A/G] NM_152280 SYT11 EXON Missense_H41R exm107701 1 155837849 [A/G] NM_152280 SYT11 EXON Missense_Q43R exm107702 1 155837865 [G/C] NM_152280 SYT11 EXON Missense_Q48H exm107707 1 155837932 [A/C] NM_152280 SYT11 EXON Missense_N71H exm107708 1 155837957 [A/G] NM_152280 SYT11 EXON Missense_R79Q exm107711 1 155838025 [A/G] NM_152280 SYT11 EXON Missense_G102S variant.7233 1 155838037 [T/C] NM_152280 SYT11 EXON Nonsense_R106X exm107719 1 155838284 [A/G] NM_152280 SYT11 EXON Missense_D188G rs822517 1 155841726 [T/C] NM_152280 SYT11 Silent rs822508 1 155850558 [T/C] NM_152280 SYT11 Silent rs1749405 1 155860091 [A/G] rs12722806 1 155863697 [A/G] exm-rs2282301 1 155868625 [A/G] NM_006912,NM_001256820,NM_001256821 RIT1,RIT1,RIT1 EXON Silent,Silent,Silent indel.7234 1 155870192 [I/D] NM_006912,NM_001256820,NM_001256821 RIT1,RIT1,RIT1 EXON rs1749409 1 155870416 [A/G] NM_006912,NM_001256820,NM_001256821 RIT1,RIT1,RIT1 Silent,Silent,Silent indel.7235 1 155885737 [D/I] NM_014949 KHDC4 EXON rs605025 1 155887772 [T/C] NM_014949 KHDC4 Silent exm1718080 1 155896514 [T/C] NM_014949 KHDC4 EXON Missense_A212T exm107818 1 155899631 [C/G] NM_014949 KHDC4 EXON Missense_L86V exm107835 1 155911517 [A/C] NM_181885 RXFP4 EXON Missense_T6N exm107840 1 155911589 [T/C] NM_181885 RXFP4 EXON Missense_P30L exm107843 1 155911730 [A/G] NM_181885 RXFP4 EXON Missense_D77G exm107850 1 155911915 [T/C] NM_181885 RXFP4 EXON Missense_R139C exm107861 1 155912080 [T/C] NM_181885 RXFP4 EXON Missense_R194C exm107862 1 155912081 [A/G] NM_181885 RXFP4 EXON Missense_R194H exm107868 1 155912197 [T/C] NM_181885 RXFP4 EXON Missense_R233W exm107869 1 155912200 [T/C] NM_181885 RXFP4 EXON Missense_R234W exm107873 1 155912210 [A/G] NM_181885 RXFP4 EXON Missense_R237Q exm107876 1 155912245 [T/C] NM_181885 RXFP4 EXON Missense_R249C exm107882 1 155912363 [T/C] NM_181885 RXFP4 EXON Missense_T288M exm107884 1 155912426 [A/G] NM_181885 RXFP4 EXON Missense_Y309C exm107886 1 155912441 [A/G] NM_181885 RXFP4 EXON Missense_R314Q rs6678443 1 155912445 [A/G] NM_181885 RXFP4 EXON Synonymous_E315E exm107889 1 155912465 [A/G] NM_181885 RXFP4 EXON Missense_G322D exm107892 1 155912486 [T/C] NM_181885 RXFP4 EXON Missense_L329S exm107894 1 155912548 [T/C] NM_181885 RXFP4 EXON Missense_R350W exm107895 1 155912549 [A/G] NM_181885 RXFP4 EXON Missense_R350Q rs2016251 1 155914988 [T/C] exm107903 1 155920126 [A/C] NM_004723,NM_001162383,NM_001350112,NM_001350111,NM_001350110,NM_001162384 ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2 EXON Missense_G923C,Missense_G951C,Missense_G933C,Missense_G924C,Missense_G924C,Missense_G950C exm107909 1 155920234 [T/G] NM_004723,NM_001162383,NM_001350112,NM_001350111,NM_001350110,NM_001162384 ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2 EXON Missense_T887P,Missense_T915P,Missense_T897P,Missense_T888P,Missense_T888P,Missense_T914P exm107927 1 155921320 [A/G] NM_004723,NM_001162383,NM_001350112,NM_001350111,NM_001350110,NM_001162384 ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2 EXON Missense_A710V,Missense_A738V,Missense_A720V,Missense_A711V,Missense_A711V,Missense_A737V exm107938 1 155921927 [A/G] NM_004723,NM_001162383,NM_001350112,NM_001350111,NM_001350110,NM_001162384 ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2 EXON Missense_T667M,Missense_T695M,Missense_T677M,Missense_T668M,Missense_T668M,Missense_T694M exm107939 1 155921941 [G/C] NM_004723,NM_001162383,NM_001350112,NM_001350111,NM_001350110,NM_001162384 ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2 EXON Missense_D662E,Missense_D690E,Missense_D672E,Missense_D663E,Missense_D663E,Missense_D689E exm107959 1 155927672 [T/C] NM_004723,NM_001162383,NM_001350112,NM_001350111,NM_001350110,NM_001162384 ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2 EXON Missense_D488G,Missense_D516G,Missense_D498G,Missense_D489G,Missense_D489G,Missense_D515G exm2249995 1 155932841 [A/G] NM_004723,NM_001162383,NM_001350112,NM_001350111,NM_001350110,NM_001162384 ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2 EXON Synonymous_L258L,Synonymous_L286L,Synonymous_L268L,Synonymous_L259L,Synonymous_L259L,Synonymous_L285L exm1718164 1 155932914 [A/C] NM_004723,NM_001162383,NM_001350112,NM_001350111,NM_001350110,NM_001162384 ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2 EXON Missense_R234L,Missense_R262L,Missense_R244L,Missense_R235L,Missense_R235L,Missense_R261L exm107997 1 155932915 [A/G] NM_004723,NM_001162383,NM_001350112,NM_001350111,NM_001350110,NM_001162384 ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2 EXON Missense_R234C,Missense_R262C,Missense_R244C,Missense_R235C,Missense_R235C,Missense_R261C exm108012 1 155935477 [A/G] NM_004723,NM_001162383,NM_001350112,NM_001350111,NM_001350110,NM_001162384 ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2 EXON Missense_R112C,Missense_R139C,Missense_R122C,Missense_R112C,Missense_R112C,Missense_R139C rs928596 1 155947875 [A/G] NM_004723,NM_001162383,NM_001350112,NM_001350111,NM_001350110,NM_001162384 ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2,ARHGEF2 EXON Silent,Silent,Silent,Silent,Silent,Silent rs1889532 1 155951502 [A/G] rs915178 1 155978725 [T/C] rs17381047 1 155983648 [A/G] NM_003145 SSR2 Silent exm108045 1 155984760 [T/G] NM_003145 SSR2 EXON Missense_P119T indel.7247 1 155984779 [I/D] NM_003145 SSR2 EXON exm108076 1 156011427 [T/G] NM_001304342,NM_020131 UBQLN4,UBQLN4 EXON Missense_P481H,Missense_P501H exm108077 1 156011444 [T/C] NM_001304342,NM_020131 UBQLN4,UBQLN4 EXON Missense_I475M,Missense_I495M exm108097 1 156018299 [T/C] NM_001304342,NM_020131 UBQLN4,UBQLN4 EXON Missense_R278Q,Missense_R298Q exm108131 1 156025166 [A/C] NM_014017,NM_001145264 LAMTOR2,LAMTOR2 EXON Missense_N61H,Missense_N61H exm-rs34372695 1 156030037 [T/C] exm108142 1 156035717 [A/G] NR_133653,NM_020387 RAB25,RAB25 EXON Silent,Missense_E20G exm108145 1 156035782 [T/C] NR_133653,NM_020387 RAB25,RAB25 EXON Silent,Missense_R42C exm108153 1 156035856 [A/G] NR_133653,NM_020387 RAB25,RAB25 EXON Silent,Nonsense_W66X variant.7255 1 156039460 [A/G] NR_133653,NM_020387 RAB25,RAB25 Silent,Silent indel.7256 1 156039533 [D/I] NR_133653,NM_020387 RAB25,RAB25 EXON exm108164 1 156039980 [G/C] NR_133653,NM_020387 RAB25,RAB25 EXON Silent,Missense_Q182E exm108166 1 156039993 [A/G] NR_133653,NM_020387 RAB25,RAB25 EXON Silent,Missense_R186Q rs10047112 1 156045662 [A/G] NM_001093725 MEX3A EXON Silent rs3738593 1 156045973 [T/C] NM_001093725 MEX3A EXON Silent rs9919256 1 156062532 [A/G] NM_001282625 LMNA Silent rs693671 1 156093195 [T/C] NM_001282625,NM_001282626,NM_005572,NM_170708,NM_170707 LMNA,LMNA,LMNA,LMNA,LMNA Silent,Silent,Silent,Silent,Silent rs2485676 1 156094872 [A/G] NM_001282625,NM_001282626,NM_005572,NM_170708,NM_170707 LMNA,LMNA,LMNA,LMNA,LMNA Silent,Silent,Silent,Silent,Silent exm108221 1 156100408 [T/C] NM_001282625,NM_001282626,NM_005572,NM_170708,NM_170707,NM_001257374,NM_001282624 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Synonymous_R119R,Synonymous_R119R,Synonymous_R119R,Synonymous_R119R,Synonymous_R119R,Synonymous_C7C,Synonymous_L38L newrs41313880 1 156100408 [T/C] NM_001282625,NM_001282626,NM_005572,NM_170708,NM_170707,NM_001257374,NM_001282624 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Synonymous_R119R,Synonymous_R119R,Synonymous_R119R,Synonymous_R119R,Synonymous_R119R,Synonymous_C7C,Synonymous_L38L rs577492 1 156100739 [T/C] NM_001282625,NM_001282626,NM_005572,NM_170708,NM_170707,NM_001257374,NM_001282624 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA,LMNA Silent,Silent,Silent,Silent,Silent,Silent,Silent exm108252 1 156106049 [A/G] NM_001282625,NM_001282626,NM_005572,NM_170708,NM_170707,NM_001257374,NM_001282624 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Missense_R401H,Missense_R401H,Missense_R401H,Missense_R401H,Missense_R401H,Missense_R289H,Missense_R320H exm2268940 1 156106185 [T/C] NM_001282625,NM_001282626,NM_005572,NM_170708,NM_170707,NM_001257374,NM_001282624 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Synonymous_D446D,Synonymous_D446D,Synonymous_D446D,Synonymous_D446D,Synonymous_D446D,Synonymous_D334D,Synonymous_D365D newrs11575937 1 156106776 [A/G] NM_001282625,NM_001282626,NM_005572,NM_170708,NM_170707,NM_001257374,NM_001282624 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Missense_R482Q,Missense_R482Q,Missense_R482Q,Missense_R482Q,Missense_R482Q,Missense_R370Q,Missense_R401Q exm108268 1 156106818 [T/C] NM_001282625,NM_001282626,NM_005572,NM_170708,NM_170707,NM_001257374,NM_001282624 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Missense_T496M,Missense_T496M,Missense_T496M,Missense_T496M,Missense_T496M,Missense_T384M,Missense_T415M rs553016 1 156106863 [T/C] NM_001282625,NM_001282626,NM_005572,NM_170708,NM_170707,NM_001257374,NM_001282624 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA,LMNA Silent,Silent,Silent,Silent,Silent,Silent,Silent exm108274 1 156106982 [A/G] NM_001282625,NM_001282626,NM_005572,NM_170708,NM_170707,NM_001257374,NM_001282624 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Missense_G523R,Missense_G523R,Missense_G523R,Missense_G523R,Missense_G523R,Missense_G411R,Missense_G442R exm108280 1 156107470 [A/G] NM_001282625,NM_001282626,NM_005572,NM_170708,NM_170707,NM_001257374,NM_001282624 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Missense_R545H,Missense_R545H,Missense_R545H,Silent,Missense_R545H,Missense_R433H,Missense_R464H exm108283 1 156107534 [T/C] NM_001282625,NM_001282626,NM_005572,NM_170708,NM_170707,NM_001257374,NM_001282624 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Synonymous_H566H,Synonymous_H566H,Synonymous_H566H,Silent,Synonymous_H566H,Synonymous_H454H,Synonymous_H485H exm108293 1 156108384 [A/G] NM_001282626,NM_170708,NM_170707,NM_001257374 LMNA,LMNA,LMNA,LMNA EXON Missense_G602S,Missense_G572S,Missense_G602S,Missense_G490S exm108300 1 156108492 [A/G] NM_001282626,NM_170708,NM_170707,NM_001257374 LMNA,LMNA,LMNA,LMNA EXON Silent,Missense_G608R,Missense_G638R,Missense_G526R exm108301 1 156108510 [T/C] NM_001282626,NM_170708,NM_170707,NM_001257374 LMNA,LMNA,LMNA,LMNA EXON Silent,Missense_R614C,Missense_R644C,Missense_R532C exm108323 1 156127862 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_I101T,Missense_I101T,Missense_I101T,Missense_I2T exm108333 1 156128541 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_S165L,Missense_S165L,Missense_S165L,Missense_S33L exm108352 1 156132745 [A/G] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_G332R,Missense_G332R,Missense_G332R,Missense_G200R indel.7289 1 156132853 [I/D] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON rs7555253 1 156133038 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A Silent,Silent,Silent,Silent rs11264452 1 156140932 [T/G] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A Silent,Silent,Silent,Silent exm2249998 1 156142652 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Synonymous_T390T,Synonymous_T390T,Synonymous_T390T,Synonymous_T258T exm108369 1 156142752 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Nonsense_Q424X,Nonsense_Q424X,Nonsense_Q424X,Nonsense_Q292X exm108371 1 156142783 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_M434T,Missense_M434T,Missense_M434T,Missense_M302T exm108378 1 156144893 [C/G] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_G484A,Missense_G484A,Missense_G484A,Missense_G352A exm108382 1 156144971 [A/G] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_R510Q,Missense_R510Q,Missense_R510Q,Missense_R378Q exm108387 1 156145424 [A/G] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_R557Q,Missense_R557Q,Missense_R557Q,Missense_R425Q exm108389 1 156145436 [A/G] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_R561H,Missense_R561H,Missense_R561H,Missense_R429H exm108403 1 156146493 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_P664L,Missense_P664L,Missense_P664L,Missense_P532L exm108405 1 156146529 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_A676V,Missense_A676V,Missense_A676V,Missense_A544V exm108406 1 156146540 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_Y680H,Missense_Y680H,Missense_Y680H,Missense_Y548H exm108407 1 156146546 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_P682S,Missense_P682S,Missense_P682S,Missense_P550S exm108413 1 156146640 [A/G] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_R713Q,Missense_R713Q,Missense_R713Q,Missense_R581Q exm108417 1 156146751 [A/T] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON Missense_D750V,Missense_D750V,Missense_D750V,Missense_D618V rs3738581 1 156147558 [T/C] rs2072499 1 156169610 [A/G] NR_104411,NM_014655,NR_104412,NR_104408,NM_001286184 SLC25A44,SLC25A44,SLC25A44,SLC25A44,SLC25A44 Silent,Silent,Silent,Silent,Silent variant.7292 1 156169625 [T/G] NR_104411,NM_014655,NR_104412,NR_104408,NM_001286184 SLC25A44,SLC25A44,SLC25A44,SLC25A44,SLC25A44 Silent,Silent,Silent,Silent,Silent exm108422 1 156169862 [A/G] NR_104411,NM_014655,NR_104412,NR_104408,NM_001286184 SLC25A44,SLC25A44,SLC25A44,SLC25A44,SLC25A44 EXON Silent,Missense_R75Q,Silent,Silent,Missense_R75Q variant.7294 1 156170188 [T/C] NR_104411,NM_014655,NR_104412,NR_104408,NM_001286184 SLC25A44,SLC25A44,SLC25A44,SLC25A44,SLC25A44 EXON Silent,Nonsense_R184X,Silent,Silent,Nonsense_R184X exm108434 1 156170251 [T/C] NR_104411,NM_014655,NR_104412,NR_104408,NM_001286184 SLC25A44,SLC25A44,SLC25A44,SLC25A44,SLC25A44 EXON Silent,Missense_H205Y,Silent,Silent,Missense_H205Y rs2241109 1 156173082 [T/C] NR_104411,NM_014655,NR_104412,NR_104408,NM_001286184 SLC25A44,SLC25A44,SLC25A44,SLC25A44,SLC25A44 Silent,Silent,Silent,Silent,Silent exm108450 1 156182816 [A/G] NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_001199654,NM_007221,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1,PMF1-BGLAP EXON Missense_A4T,Missense_A4T,Missense_A4T,Missense_A4T,Missense_A4T,Missense_A4T,Missense_A4T rs1060604 1 156184268 [T/C] NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_001199654,NM_007221,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1,PMF1-BGLAP Silent,Silent,Silent,Silent,Silent,Silent,Silent exm108468 1 156202173 [A/G] NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_001199654,NM_007221,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1,PMF1-BGLAP EXON Missense_Q75R,Missense_Q75R,Silent,Missense_Q75R,Silent,Missense_Q75R,Missense_Q75R rs2251847 1 156204047 [A/G] NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_001199654,NM_007221,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1,PMF1-BGLAP Silent,Silent,Silent,Silent,Silent,Silent,Silent exm108480 1 156206121 [A/G] NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_001199654,NM_007221,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1,PMF1-BGLAP EXON Silent,Silent,Missense_M68I,Silent,Missense_M139I,Missense_M137I,Missense_M137I exm108481 1 156206143 [T/C] NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_001199654,NM_007221,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1,PMF1-BGLAP EXON Silent,Synonymous_N124N,Missense_R76W,Synonymous_N124N,Missense_R147W,Missense_R145W,Missense_R145W exm108483 1 156206155 [T/C] NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_001199654,NM_007221,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1,PMF1-BGLAP EXON Silent,Synonymous_C128C,Missense_R80W,Synonymous_C128C,Missense_R151W,Missense_R149W,Missense_R149W exm108484 1 156206156 [A/G] NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_001199654,NM_007221,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1,PMF1-BGLAP EXON Silent,Missense_G129S,Missense_R80Q,Missense_G129S,Missense_R151Q,Missense_R149Q,Missense_R149Q exm108485 1 156206158 [T/C] NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_001199654,NM_007221,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1,PMF1-BGLAP EXON Silent,Synonymous_G129G,Missense_R81C,Synonymous_G129G,Missense_R152C,Missense_R150C,Missense_R150C exm108486 1 156206181 [T/C] NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_001199654,NM_007221,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1,PMF1-BGLAP EXON Silent,Missense_P137L,Synonymous_A88A,Missense_P137L,Synonymous_A159A,Synonymous_A157A,Synonymous_A157A exm108490 1 156206205 [T/C] NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_001199654,NM_007221,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1,PMF1-BGLAP EXON Silent,Missense_P145L,Synonymous_A96A,Missense_P145L,Synonymous_A167A,Synonymous_A165A,Synonymous_A165A exm108494 1 156206248 [A/G] NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_001199654,NM_007221,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1,PMF1-BGLAP EXON Silent,Synonymous_R159R,Missense_V111I,Synonymous_R159R,Missense_V182I,Missense_V180I,Missense_V180I rs11808441 1 156210008 [A/G] NM_001199663,NM_001199661,NM_001199664,NM_001199662 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP Silent,Silent,Silent,Silent exm108505 1 156212068 [T/C] NM_001199663,NM_001199661,NM_001199664,NM_001199662,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Silent,Silent,Silent,Silent,Missense_C16R exm108509 1 156212360 [T/C] NM_001199663,NM_001199661,NM_001199664,NM_001199662,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Missense_C129R,Missense_C174R,Missense_V125A,Missense_V194A,Synonymous_G27G exm1718486 1 156212564 [A/G] NM_001199663,NM_001199661,NM_001199664,NM_001199662,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Missense_Q140R,Missense_Q185R,Synonymous_P136P,Synonymous_P205P,Missense_K39E exm1718487 1 156212567 [A/C] NM_001199663,NM_001199661,NM_001199664,NM_001199662,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Missense_A141E,Missense_A186E,Missense_S137R,Missense_S206R,Missense_Q40K exm1718488 1 156212578 [T/C] NM_001199663,NM_001199661,NM_001199664,NM_001199662,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Nonsense_R145X,Nonsense_R190X,Missense_A141V,Missense_A210V,Synonymous_S43S exm108518 1 156212872 [A/T] NM_001199663,NM_001199661,NM_001199664,NM_001199662,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Missense_X176R,Missense_X221R,Silent,Silent,Nonsense_C74X exm108520 1 156212894 [A/G] NM_001199663,NM_001199661,NM_001199664,NM_001199662,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Silent,Silent,Silent,Silent,Missense_E82K exm108525 1 156212931 [A/G] NM_001199663,NM_001199661,NM_001199664,NM_001199662,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Silent,Silent,Silent,Silent,Missense_R94Q exm108526 1 156212933 [T/C] NM_001199663,NM_001199661,NM_001199664,NM_001199662,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Silent,Silent,Silent,Silent,Missense_R95C exm2273699 1 156213762 [A/C] NM_001272105,NM_001272108,NM_024897,NM_198406,NM_001272106,NM_001272104,NM_001272107,NM_001272111,NM_001272112,NR_073610,NM_001272110,NM_001272109,NM_001272113 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Silent,Silent,Missense_G316W,Silent,Missense_G248W,Silent,Silent,Missense_G176W,Missense_G176W,Silent,Missense_G176W,Missense_G176W,Missense_G176W exm108548 1 156214492 [T/C] NM_001272105,NM_001272108,NM_024897,NM_198406,NM_001272106,NM_001272104,NM_001272107,NM_001272111,NM_001272112,NR_073610,NM_001272110,NM_001272109,NM_001272113 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Silent,Silent,Missense_R168G,Silent,Missense_R100G,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm108554 1 156214553 [A/G] NM_001272105,NM_001272108,NM_024897,NM_198406,NM_001272106,NM_001272104,NM_001272107,NM_001272111,NM_001272112,NR_073610,NM_001272110,NM_001272109,NM_001272113 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Synonymous_I250I,Synonymous_I142I,Synonymous_I147I,Synonymous_I253I,Synonymous_I79I,Synonymous_I253I,Synonymous_I147I,Missense_S31L,Missense_S31L,Silent,Missense_S31L,Missense_S31L,Missense_S31L exm108563 1 156214641 [A/C] NM_001272105,NM_001272108,NM_024897,NM_198406,NM_001272106,NM_001272104,NM_001272107,NM_001272111,NM_001272112,NR_073610,NM_001272110,NM_001272109,NM_001272113 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Missense_G221V,Missense_G113V,Missense_G118V,Missense_G224V,Silent,Missense_G224V,Missense_G118V,Missense_A2S,Missense_A2S,Silent,Missense_A2S,Missense_A2S,Missense_A2S exm108566 1 156214675 [T/C] NM_001272105,NM_001272108,NM_024897,NM_198406,NM_001272106,NM_001272104,NM_001272107,NM_001272111,NM_001272112,NR_073610,NM_001272110,NM_001272109,NM_001272113 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Missense_G210S,Missense_G102S,Missense_G107S,Missense_G213S,Silent,Missense_G213S,Missense_G107S,Silent,Silent,Silent,Silent,Silent,Silent exm108576 1 156215431 [A/G] NM_001272105,NM_001272108,NM_024897,NM_198406,NM_001272106,NM_001272104,NM_001272107,NM_001272111,NM_001272112,NR_073610,NM_001272110,NM_001272109,NM_001272113 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Missense_A133V,Silent,Missense_A30V,Missense_A136V,Missense_P3S,Missense_A136V,Missense_A30V,Silent,Silent,Silent,Silent,Silent,Silent exm108590 1 156216005 [A/G] NM_001272105,NM_001272108,NM_024897,NM_198406,NM_001272106,NM_001272104,NM_001272107,NM_001272111,NM_001272112,NR_073610,NM_001272110,NM_001272109,NM_001272113 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Missense_R27C,Missense_R30C,Silent,Missense_R30C,Silent,Missense_R30C,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2273338 1 156220334 [A/G] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Silent,Silent,Silent,Silent,Silent exm108606 1 156220455 [C/G] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Missense_L926V,Missense_L939V,Missense_L992V,Missense_L926V,Missense_L946V exm108607 1 156220659 [A/C] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Missense_G920V,Missense_G933V,Missense_G986V,Missense_G920V,Missense_G940V exm108610 1 156220780 [A/G] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Missense_Y880H,Missense_Y893H,Missense_Y946H,Missense_Y880H,Missense_Y900H variant.7317 1 156223296 [A/G] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Nonsense_Q750X,Nonsense_Q763X,Nonsense_Q816X,Nonsense_Q750X,Nonsense_Q770X exm108637 1 156230304 [C/G] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Missense_R675G,Missense_R741G,Missense_R741G,Missense_R675G,Missense_R695G rs933489 1 156235120 [T/C] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 Silent,Silent,Silent,Silent,Silent exm108663 1 156235766 [A/C] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Missense_G488V,Missense_G554V,Missense_G554V,Missense_G488V,Missense_G508V exm108664 1 156235769 [T/C] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Missense_N487S,Missense_N553S,Missense_N553S,Missense_N487S,Missense_N507S exm108666 1 156235800 [A/G] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Missense_R477W,Missense_R543W,Missense_R543W,Missense_R477W,Missense_R497W exm108668 1 156235857 [T/C] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Missense_D458N,Missense_D524N,Missense_D524N,Missense_D458N,Missense_D478N exm108683 1 156236155 [A/C] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Missense_K358N,Missense_K424N,Missense_K424N,Missense_K358N,Missense_K378N exm2231461 1 156236171 [T/C] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Missense_D353G,Missense_D419G,Missense_D419G,Missense_D353G,Missense_D373G exm108688 1 156237315 [T/C] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Missense_I289V,Missense_I355V,Missense_I355V,Missense_I289V,Missense_I355V exm108692 1 156237377 [G/C] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Missense_S268T,Missense_S334T,Missense_S334T,Missense_S268T,Missense_S334T exm108697 1 156237971 [A/C] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Missense_C215W,Missense_C281W,Missense_C281W,Missense_C215W,Missense_C281W exm108703 1 156242144 [T/C] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Missense_Y161C,Missense_Y227C,Missense_Y227C,Missense_Y161C,Missense_Y227C rs2277872 1 156246728 [T/G] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 Silent,Silent,Silent,Silent,Silent exm108716 1 156246879 [T/C] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Missense_I85V,Missense_I151V,Missense_I151V,Missense_I85V,Missense_I151V exm108722 1 156247019 [T/C] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Missense_R38Q,Missense_R104Q,Missense_R104Q,Missense_R38Q,Missense_R104Q exm108723 1 156247757 [T/C] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Missense_V20I,Missense_V86I,Missense_V86I,Missense_V20I,Missense_V86I rs2248273 1 156247907 [T/C] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 Silent,Silent,Silent,Silent,Silent exm108729 1 156248779 [T/C] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Silent,Missense_K41E,Missense_K41E,Silent,Missense_K41E exm108735 1 156252399 [A/G] NM_001323617,NM_001323614,NM_015327,NM_001323616,NM_001323615 SMG5,SMG5,SMG5,SMG5,SMG5 EXON Silent,Missense_R25W,Missense_R25W,Silent,Missense_R25W exm108742 1 156255022 [T/C] NM_001323617,NR_026678,NM_032323 SMG5,TMEM79,TMEM79 EXON Silent,Silent,Missense_T2I exm108744 1 156255045 [A/C] NM_001323617,NR_026678,NM_032323 SMG5,TMEM79,TMEM79 EXON Silent,Silent,Missense_L10M exm108747 1 156255109 [A/G] NM_001323617,NR_026678,NM_032323 SMG5,TMEM79,TMEM79 EXON Silent,Silent,Missense_R31Q exm1718595 1 156255142 [T/C] NM_001323617,NR_026678,NM_032323 SMG5,TMEM79,TMEM79 EXON Silent,Silent,Missense_P42L exm108752 1 156255162 [A/G] NM_001323617,NR_026678,NM_032323 SMG5,TMEM79,TMEM79 EXON Silent,Silent,Missense_V49M exm108759 1 156255327 [T/A] NM_001323617,NR_026678,NM_032323 SMG5,TMEM79,TMEM79 EXON Silent,Silent,Missense_S104T exm108764 1 156255396 [T/C] NM_001323617,NR_026678,NM_032323 SMG5,TMEM79,TMEM79 EXON Silent,Silent,Missense_R127C exm108766 1 156255448 [A/G] NM_001323617,NR_026678,NM_032323 SMG5,TMEM79,TMEM79 EXON Silent,Silent,Missense_D144G exm108767 1 156255456 [A/G] NM_001323617,NR_026678,NM_032323 SMG5,TMEM79,TMEM79 EXON Silent,Silent,Missense_V147M exm108783 1 156255609 [G/C] NM_001323617,NR_026678,NM_032323 SMG5,TMEM79,TMEM79 EXON Silent,Silent,Missense_L198V exm108799 1 156256116 [T/C] NM_001323617,NR_026678,NM_032323 SMG5,TMEM79,TMEM79 EXON Silent,Silent,Missense_R275W exm1718606 1 156256134 [T/C] NM_001323617,NR_026678,NM_032323 SMG5,TMEM79,TMEM79 EXON Silent,Silent,Missense_R281W variant.7324 1 156256137 [T/C] NM_001323617,NR_026678,NM_032323 SMG5,TMEM79,TMEM79 EXON Silent,Silent,Nonsense_R282X exm1718607 1 156256191 [A/G] NM_001323617,NR_026678,NM_032323 SMG5,TMEM79,TMEM79 EXON Silent,Silent,Missense_V300M exm108807 1 156256195 [T/C] NM_001323617,NR_026678,NM_032323 SMG5,TMEM79,TMEM79 EXON Silent,Silent,Missense_L301P exm108811 1 156256257 [A/G] NM_001323617,NR_026678,NM_032323 SMG5,TMEM79,TMEM79 EXON Silent,Silent,Missense_V322I exm108821 1 156261298 [T/C] NR_026678,NM_032323 TMEM79,TMEM79 EXON Silent,Missense_P365L exm108833 1 156262905 [A/G] NM_001256609,NM_144580,NM_001256608,NM_001256604,NM_001256605 GLMP,GLMP,GLMP,GLMP,GLMP EXON Missense_M303T,Missense_M384T,Synonymous_H298H,Missense_M335T,Missense_M298T exm108835 1 156262945 [C/G] NM_001256609,NM_144580,NM_001256608,NM_001256604,NM_001256605 GLMP,GLMP,GLMP,GLMP,GLMP EXON Missense_L290V,Missense_L371V,Missense_P285R,Missense_L322V,Missense_L285V exm108846 1 156263343 [A/G] NM_001256609,NM_144580,NM_001256608,NM_001256604,NM_001256605 GLMP,GLMP,GLMP,GLMP,GLMP EXON Missense_L194F,Missense_L275F,Silent,Silent,Missense_L189F exm2231464 1 156263837 [T/C] NM_001256609,NM_144580,NM_001256608,NM_001256604,NM_001256605 GLMP,GLMP,GLMP,GLMP,GLMP EXON Missense_D176G,Missense_D257G,Missense_D257G,Missense_D257G,Missense_D171G exm108859 1 156263940 [T/C] NM_001256609,NM_144580,NM_001256608,NM_001256604,NM_001256605 GLMP,GLMP,GLMP,GLMP,GLMP EXON Missense_I142V,Missense_I223V,Missense_I223V,Missense_I223V,Missense_I137V exm108861 1 156264000 [A/G] NM_001256609,NM_144580,NM_001256608,NM_001256604,NM_001256605 GLMP,GLMP,GLMP,GLMP,GLMP EXON Missense_P122S,Missense_P203S,Missense_P203S,Missense_P203S,Missense_P117S exm2231466 1 156264002 [T/C] NM_001256609,NM_144580,NM_001256608,NM_001256604,NM_001256605 GLMP,GLMP,GLMP,GLMP,GLMP EXON Missense_R121Q,Missense_R202Q,Missense_R202Q,Missense_R202Q,Missense_R116Q exm108862 1 156264003 [A/G] NM_001256609,NM_144580,NM_001256608,NM_001256604,NM_001256605 GLMP,GLMP,GLMP,GLMP,GLMP EXON Nonsense_R121X,Nonsense_R202X,Nonsense_R202X,Nonsense_R202X,Nonsense_R116X exm108864 1 156264175 [T/C] NM_001256609,NM_144580,NM_001256608,NM_001256604,NM_001256605 GLMP,GLMP,GLMP,GLMP,GLMP EXON Missense_N106S,Missense_N187S,Missense_N187S,Missense_N187S,Missense_N101S variant.7336 1 156264285 [T/G] NM_001256609,NM_144580,NM_001256608,NM_001256604,NM_001256605 GLMP,GLMP,GLMP,GLMP,GLMP EXON Nonsense_Y69X,Nonsense_Y150X,Nonsense_Y150X,Nonsense_Y150X,Nonsense_Y64X exm108871 1 156264339 [T/G] NM_001256609,NM_144580,NM_001256608,NM_001256604,NM_001256605 GLMP,GLMP,GLMP,GLMP,GLMP EXON Missense_S51R,Missense_S132R,Missense_S132R,Missense_S132R,Missense_S46R exm108875 1 156264648 [T/C] NM_001256609,NM_144580,NM_001256608,NM_001256604,NM_001256605 GLMP,GLMP,GLMP,GLMP,GLMP EXON Missense_V13I,Missense_V94I,Missense_V94I,Missense_V94I,Silent exm108881 1 156264690 [C/G] NM_001256609,NM_144580,NM_001256608,NM_001256604,NM_001256605 GLMP,GLMP,GLMP,GLMP,GLMP EXON Silent,Missense_V80L,Missense_V80L,Missense_V80L,Silent exm108907 1 156268808 [A/G] NM_001004319 VHLL EXON Missense_I58T exm108908 1 156268832 [A/G] NM_001004319 VHLL EXON Missense_S50L exm108909 1 156268833 [A/G] NM_001004319 VHLL EXON Missense_S50P exm108911 1 156268845 [A/G] NM_001004319 VHLL EXON Missense_R46C exm108913 1 156268884 [T/C] NM_001004319 VHLL EXON Missense_E33K rs7522860 1 156275281 [A/G] exm1718670 1 156280881 [A/C] NM_001008800,NR_036565,NR_036564,NM_005998 CCT3,CCT3,CCT3,CCT3 EXON Missense_A383S,Silent,Silent,Missense_A421S exm108936 1 156280971 [A/G] NM_001008800,NR_036565,NR_036564,NM_005998 CCT3,CCT3,CCT3,CCT3 EXON Missense_L353F,Silent,Silent,Missense_L391F exm1718679 1 156287027 [A/G] NM_001008800,NR_036565,NR_036564,NM_005998 CCT3,CCT3,CCT3,CCT3 EXON Missense_H264Y,Silent,Silent,Missense_H302Y exm108959 1 156290656 [T/C] NM_001008800,NR_036565,NR_036564,NM_005998 CCT3,CCT3,CCT3,CCT3 EXON Missense_I157V,Silent,Silent,Missense_I195V rs12141236 1 156302575 [A/C] NM_001008800,NR_036565,NR_036564,NM_005998 CCT3,CCT3,CCT3,CCT3 Silent,Silent,Silent,Silent newrs142838408 1 156303414 [T/C] NM_001008800,NR_036565,NR_036564,NM_005998 CCT3,CCT3,CCT3,CCT3 EXON Synonymous_A38A,Silent,Silent,Synonymous_A76A exm108984 1 156305641 [A/G] NM_001008800,NR_036565,NR_036564,NM_005998 CCT3,CCT3,CCT3,CCT3 EXON Missense_S24P,Silent,Silent,Missense_S24P exm108994 1 156309555 [T/C] NM_144627,NM_001304817,NM_001304818,NR_130913,NM_001304822,NM_001304823,NM_001304825,NM_001304821,NM_001304819,NM_001304826,NM_001304824,NM_001304820 TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC EXON Missense_R3W,Missense_R3W,Missense_R3W,Silent,Missense_R3W,Missense_R3W,Missense_R3W,Missense_R3W,Missense_R3W,Missense_R21W,Missense_R3W,Missense_R3W exm109001 1 156314440 [T/G] NM_144627,NM_001304817,NM_001304818,NR_130913,NM_001304822,NM_001304823,NM_001304825,NM_001304821,NM_001304819,NM_001304826,NM_001304824,NM_001304820 TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC EXON Missense_L35R,Missense_L35R,Missense_L35R,Silent,Missense_L35R,Missense_L35R,Missense_L35R,Missense_L35R,Missense_L35R,Missense_L53R,Missense_L35R,Missense_L35R exm109004 1 156314497 [T/C] NM_144627,NM_001304817,NM_001304818,NR_130913,NM_001304822,NM_001304823,NM_001304825,NM_001304821,NM_001304819,NM_001304826,NM_001304824,NM_001304820 TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC EXON Missense_S54L,Missense_S54L,Missense_S54L,Silent,Missense_S54L,Missense_S54L,Missense_S54L,Missense_S54L,Missense_S54L,Missense_S72L,Missense_S54L,Missense_S54L newrs150769956 1 156316558 [A/G] NM_144627,NM_001304817,NM_001304818,NR_130913,NM_001304822,NM_001304823,NM_001304825,NM_001304821,NM_001304819,NM_001304826,NM_001304824,NM_001304820 TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1718722 1 156316594 [G/C] NM_144627,NM_001304817,NM_001304818,NR_130913,NM_001304822,NM_001304823,NM_001304825,NM_001304821,NM_001304819,NM_001304826,NM_001304824,NM_001304820 TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC EXON Missense_E67Q,Missense_E67Q,Missense_E67Q,Silent,Missense_G63A,Missense_G63A,Missense_G63A,Missense_E67Q,Missense_E67Q,Missense_E85Q,Missense_G63A,Missense_E67Q exm109013 1 156316679 [T/C] NM_144627,NM_001304817,NM_001304818,NR_130913,NM_001304822,NM_001304823,NM_001304825,NM_001304821,NM_001304819,NM_001304826,NM_001304824,NM_001304820 TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC,TSACC EXON Missense_T95I,Missense_T95I,Missense_T95I,Silent,Synonymous_D91D,Synonymous_D91D,Synonymous_D91D,Missense_T95I,Missense_T95I,Missense_T113I,Synonymous_D91D,Missense_T95I rs2764407 1 156333831 [A/G] rs3795731 1 156338968 [T/C] exm109020 1 156339047 [G/C] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Silent,Silent,Silent,Silent,Missense_G3R,Silent exm109021 1 156339082 [T/G] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Silent,Silent,Silent,Silent,Missense_Q14H,Silent exm109022 1 156339083 [T/C] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Silent,Silent,Silent,Silent,Missense_L15F,Silent exm109026 1 156339147 [A/G] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Silent,Silent,Silent,Silent,Missense_Y36C,Silent rs7525133 1 156341494 [A/G] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4641304 1 156342917 [A/G] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG Silent,Silent,Silent,Silent,Silent,Silent,Silent exm109031 1 156347121 [A/G] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Missense_V4M,Silent,Missense_V43M,Silent,Missense_V73M,Silent exm109032 1 156347131 [A/G] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Missense_G7D,Silent,Missense_G46D,Silent,Missense_G76D,Silent rs2245623 1 156347131 [A/G] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Missense_G7D,Silent,Missense_G46D,Silent,Missense_G76D,Silent exm109033 1 156347147 [C/G] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Missense_F12L,Silent,Missense_F51L,Silent,Missense_F81L,Silent exm109035 1 156347160 [A/G] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Missense_G17S,Silent,Missense_G56S,Silent,Missense_G86S,Silent exm109036 1 156347238 [T/C] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Missense_H43Y,Silent,Missense_H82Y,Silent,Missense_H112Y,Silent exm109046 1 156347833 [A/G] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Missense_V74I,Silent,Missense_V113I,Silent,Missense_V143I,Silent exm109047 1 156347834 [T/A] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Missense_V74D,Silent,Missense_V113D,Silent,Missense_V143D,Silent exm109060 1 156348148 [T/C] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Missense_R142C,Silent,Missense_R181C,Silent,Missense_R211C,Silent exm109064 1 156351213 [T/C] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Missense_T181M,Silent,Missense_T220M,Silent,Missense_T250M,Silent exm109066 1 156351613 [G/C] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Missense_A217G,Silent,Missense_A256G,Silent,Missense_A286G,Silent exm109069 1 156351699 [A/G] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Missense_G246R,Silent,Missense_G285R,Silent,Missense_G315R,Silent exm109070 1 156351733 [T/C] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Missense_T257M,Silent,Missense_T296M,Silent,Missense_T326M,Silent newrs140066954 1 156351734 [A/G] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Synonymous_T257T,Silent,Synonymous_T296T,Silent,Synonymous_T326T,Silent rs872120 1 156352396 [T/C] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG Silent,Silent,Silent,Silent,Silent,Silent,Silent exm109089 1 156352648 [C/G] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG EXON Silent,Missense_G339R,Silent,Missense_G378R,Silent,Missense_G408R,Silent rs867921 1 156352974 [T/C] NR_146765,NM_001256395,NR_146764,NM_001256396,NR_046115,NM_020407,NR_146763 RHBG,RHBG,RHBG,RHBG,RHBG,RHBG,RHBG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6686886 1 156356480 [A/G] rs7551218 1 156364720 [A/G] rs3431 1 156374256 [T/C] NM_001320454,NR_135260,NR_135268,NM_001320453,NR_135266,NM_006365,NR_135267,NR_135261,NR_135262,NM_001320455,NR_135264,NR_135265,NR_135263 C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm109116 1 156377693 [T/G] NM_001320454,NR_135260,NR_135268,NM_001320453,NR_135266,NM_006365,NR_135267,NR_135261,NR_135262,NM_001320455,NR_135264,NR_135265,NR_135263 C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61 EXON Nonsense_C65X,Silent,Silent,Silent,Silent,Nonsense_C82X,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm109117 1 156377704 [A/G] NM_001320454,NR_135260,NR_135268,NM_001320453,NR_135266,NM_006365,NR_135267,NR_135261,NR_135262,NM_001320455,NR_135264,NR_135265,NR_135263 C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61 EXON Missense_R62W,Silent,Silent,Silent,Silent,Missense_R79W,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7551781 1 156378425 [T/C] NM_001320454,NR_135260,NR_135268,NM_001320453,NR_135266,NM_006365,NR_135267,NR_135261,NR_135262,NM_001320455,NR_135264,NR_135265,NR_135263 C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2296373 1 156386787 [T/C] NM_001320454,NR_135260,NR_135268,NM_001320453,NR_135266,NM_006365,NR_135267,NR_135261,NR_135262,NM_001320455,NR_135264,NR_135265,NR_135263 C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61,C1orf61 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16837408 1 156425048 [T/C] rs750439 1 156430749 [T/C] exm109130 1 156437816 [A/G] NM_001271629,NM_005920 MEF2D,MEF2D EXON Missense_S501L,Missense_S508L exm109139 1 156437912 [A/C] NM_001271629,NM_005920 MEF2D,MEF2D EXON Missense_G469V,Missense_G476V exm109140 1 156437916 [T/C] NM_001271629,NM_005920 MEF2D,MEF2D EXON Missense_G468R,Missense_G475R rs2274316 1 156446242 [A/C] NM_001271629,NM_005920 MEF2D,MEF2D Silent,Silent rs1925950 1 156450740 [A/G] NM_001271629,NM_005920 MEF2D,MEF2D EXON Synonymous_N94N,Synonymous_N94N rs3790455 1 156456301 [T/C] NM_001271629,NM_005920 MEF2D,MEF2D Silent,Silent rs746527 1 156460511 [T/C] NM_005920 MEF2D Silent rs10159180 1 156480324 [T/C] rs6674079 1 156486061 [A/G] rs947661 1 156494916 [A/G] exm2264906 1 156495001 [A/G] exm1718871 1 156496297 [T/C] NM_178229 IQGAP3 EXON Missense_K1626R exm2275327 1 156497764 [A/G] NM_178229 IQGAP3 EXON Nonsense_R1588X exm109207 1 156497838 [A/G] NM_178229 IQGAP3 EXON Missense_I1563T exm109209 1 156498307 [T/G] NM_178229 IQGAP3 EXON Missense_A1556D exm109222 1 156499967 [T/C] NM_178229 IQGAP3 EXON Missense_R1445H exm109225 1 156499985 [T/C] NM_178229 IQGAP3 EXON Missense_R1439H exm109229 1 156500033 [T/C] NM_178229 IQGAP3 EXON Missense_R1423H exm109231 1 156500039 [T/C] NM_178229 IQGAP3 EXON Missense_R1421Q exm109234 1 156500096 [T/C] NM_178229 IQGAP3 EXON Missense_K1402R exm109239 1 156502788 [A/G] NM_178229 IQGAP3 EXON Missense_R1363C exm109241 1 156502847 [A/G] NM_178229 IQGAP3 EXON Missense_S1343F exm109251 1 156503650 [A/C] NM_178229 IQGAP3 EXON Missense_Q1297H exm109262 1 156504308 [A/G] NM_178229 IQGAP3 EXON Missense_T1242I exm109264 1 156504372 [C/G] NM_178229 IQGAP3 EXON Missense_A1221P rs942965 1 156505061 [T/C] NM_178229 IQGAP3 Silent variant.7363 1 156506971 [A/G] NM_178229 IQGAP3 Silent exm109281 1 156506972 [T/C] NM_178229 IQGAP3 Silent exm109282 1 156507013 [T/C] NM_178229 IQGAP3 EXON Missense_K1128E exm109283 1 156507025 [T/C] NM_178229 IQGAP3 EXON Missense_A1124T exm109286 1 156507067 [T/C] NM_178229 IQGAP3 EXON Missense_E1110K exm2250005 1 156507068 [A/G] NM_178229 IQGAP3 EXON Synonymous_P1109P rs1177696 1 156508477 [A/G] NM_178229 IQGAP3 Silent exm109299 1 156509223 [T/C] NM_178229 IQGAP3 EXON Missense_R1000H variant.7366 1 156509730 [T/G] NM_178229 IQGAP3 EXON Nonsense_S931X exm109314 1 156513809 [A/G] NM_178229 IQGAP3 EXON Nonsense_R832X exm109315 1 156513841 [A/C] NM_178229 IQGAP3 EXON Missense_V821G exm2273700 1 156513961 [A/G] NM_178229 IQGAP3 EXON Missense_H815Y exm109332 1 156518001 [T/C] NM_178229 IQGAP3 EXON Missense_R723H exm109335 1 156518140 [T/C] NM_178229 IQGAP3 EXON Synonymous_Q711Q exm109337 1 156518154 [A/G] NM_178229 IQGAP3 EXON Missense_R707W exm109341 1 156518379 [A/G] NM_178229 IQGAP3 EXON Missense_R663C exm109343 1 156518421 [T/C] NM_178229 IQGAP3 EXON Missense_G649S exm109345 1 156518433 [T/C] NM_178229 IQGAP3 EXON Missense_D645N exm109358 1 156520100 [A/C] NM_178229 IQGAP3 EXON Missense_R593L exm109359 1 156520109 [T/C] NM_178229 IQGAP3 EXON Missense_E590G rs1778818 1 156520320 [T/C] NM_178229 IQGAP3 Silent exm109369 1 156521547 [T/C] NM_178229 IQGAP3 EXON Missense_A562T exm109372 1 156521765 [T/C] NM_178229 IQGAP3 Silent exm109375 1 156521853 [A/G] NM_178229 IQGAP3 EXON Missense_R495C exm109378 1 156524028 [A/G] NM_178229 IQGAP3 EXON Missense_R483C exm109384 1 156524097 [T/C] NM_178229 IQGAP3 EXON Missense_S460G exm109386 1 156524139 [A/C] NM_178229 IQGAP3 EXON Missense_A446S rs6694580 1 156524221 [T/G] NM_178229 IQGAP3 Silent exm109389 1 156526327 [G/C] NM_178229 IQGAP3 EXON Missense_G430R exm109392 1 156526387 [C/G] NM_178229 IQGAP3 EXON Missense_V410L exm109396 1 156526444 [T/C] NM_178229 IQGAP3 EXON Missense_R391G exm109398 1 156526467 [T/C] NM_178229 IQGAP3 EXON Missense_R383Q exm109400 1 156530732 [T/G] NM_178229 IQGAP3 EXON Missense_Q375K exm109411 1 156532380 [A/G] NM_178229 IQGAP3 EXON Synonymous_N292N exm109413 1 156532436 [T/C] NM_178229 IQGAP3 EXON Missense_I274V exm109422 1 156533066 [A/G] NM_178229 IQGAP3 EXON Nonsense_R220X exm109426 1 156533387 [T/C] NM_178229 IQGAP3 EXON Missense_G193R exm109427 1 156533396 [T/G] NM_178229 IQGAP3 EXON Missense_S190R exm2250006 1 156536221 [C/G] NM_178229 IQGAP3 EXON Synonymous_P81P exm109452 1 156536256 [T/G] NM_178229 IQGAP3 EXON Missense_K70Q exm109455 1 156536300 [A/G] NM_178229 IQGAP3 EXON Missense_P55L exm1718979 1 156539250 [A/G] NM_178229 IQGAP3 EXON Missense_R15C exm109469 1 156542294 [A/G] NM_178229 IQGAP3 EXON Missense_W10R rs9988587 1 156542599 [T/C] rs10908509 1 156550254 [T/C] rs6679425 1 156550968 [A/C] exm109473 1 156551248 [A/G] NM_001105669 TTC24 EXON Missense_R31Q exm109475 1 156551447 [A/C] NM_001105669 TTC24 EXON Missense_R97S exm109487 1 156551848 [A/G] NM_001105669 TTC24 EXON Missense_E231G exm109496 1 156552226 [A/G] NM_001105669 TTC24 EXON Missense_G304S exm109501 1 156553142 [G/C] NM_001105669 TTC24 EXON Missense_G351A exm109508 1 156553620 [T/G] NM_001105669 TTC24 EXON Missense_V395G exm109512 1 156553647 [T/C] NM_001105669 TTC24 EXON Missense_T404M indel.7389 1 156554965 [I/D] NM_001105669 TTC24 EXON variant.7392 1 156555024 [A/G] NM_001105669 TTC24 Silent exm109522 1 156555577 [T/C] NM_001105669 TTC24 EXON Missense_T510M exm109528 1 156555764 [C/G] NM_001105669 TTC24 EXON Missense_P532A exm109531 1 156555819 [A/G] NM_001105669 TTC24 EXON Missense_N550S exm109532 1 156555827 [A/C] NM_001105669 TTC24 EXON Missense_Q553K rs4661188 1 156560502 [A/G] exm109540 1 156561651 [G/C] NM_144772 NAXE EXON Missense_V19L exm109545 1 156561901 [A/C] NM_144772 NAXE EXON Missense_E64A exm109547 1 156561933 [A/G] NM_144772 NAXE EXON Missense_E75K newrs147197432 1 156563199 [A/G] NM_144772 NAXE Silent exm109563 1 156563219 [T/C] NM_144772 NAXE EXON Missense_L179P exm109580 1 156563805 [A/G] NM_144772 NAXE EXON Missense_A266T exm109584 1 156563851 [T/C] NM_144772 NAXE EXON Missense_T281I indel.7405 1 156564976 [I/D] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON exm109594 1 156565010 [A/G] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Nonsense_Q370X,Nonsense_Q375X newrs141105131 1 156565010 [A/G] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Nonsense_Q370X,Nonsense_Q375X newrs72559129 1 156565049 [D/I] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON exm109597 1 156565111 [A/C] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Missense_R336I,Missense_R341I exm109598 1 156565114 [T/C] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Missense_R335Q,Missense_R340Q exm109600 1 156565156 [A/G] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Missense_T321I,Missense_T326I indel.7408 1 156565248 [D/I] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON exm109604 1 156565256 [T/C] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Missense_R288G,Missense_R293G exm109612 1 156565413 [C/G] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Missense_Q235H,Missense_Q240H indel.7409 1 156565503 [I/D] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON exm109626 1 156566195 [A/G] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Missense_S137P,Missense_S142P exm109638 1 156567847 [C/G] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Missense_L105V,Missense_L110V variant.7410 1 156568073 [T/C] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Nonsense_W64X,Nonsense_W69X exm109653 1 156571202 [A/G] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Silent,Synonymous_D10D exm109655 1 156571216 [T/C] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Silent,Missense_G6R rs7536235 1 156581534 [T/C] rs2365714 1 156588749 [A/G] NR_135113 LOC101928177 Silent exm109666 1 156593800 [T/C] NM_021817 HAPLN2 EXON Missense_P96L exm109668 1 156593928 [T/G] NM_021817 HAPLN2 EXON Missense_V139L exm109671 1 156594258 [A/G] NM_021817 HAPLN2 EXON Synonymous_Q185Q rs1361744 1 156610688 [A/G] exm109687 1 156615902 [A/C] NM_021948,NM_198427 BCAN,BCAN EXON Missense_A19E,Missense_A19E exm109696 1 156616763 [T/G] NM_021948,NM_198427 BCAN,BCAN EXON Missense_A88S,Missense_A88S exm109702 1 156616814 [C/G] NM_021948,NM_198427 BCAN,BCAN EXON Missense_R105G,Missense_R105G exm109711 1 156617333 [A/G] NM_021948,NM_198427 BCAN,BCAN EXON Missense_R167H,Missense_R167H exm109734 1 156621251 [T/C] NM_021948,NM_198427 BCAN,BCAN EXON Missense_S356L,Missense_S356L rs12065791 1 156621251 [T/C] NM_021948,NM_198427 BCAN,BCAN EXON Missense_S356L,Missense_S356L exm109737 1 156621286 [T/C] NM_021948,NM_198427 BCAN,BCAN EXON Missense_P368S,Missense_P368S exm109739 1 156621311 [A/G] NM_021948,NM_198427 BCAN,BCAN EXON Missense_G376E,Missense_G376E exm109750 1 156622070 [A/C] NM_021948,NM_198427 BCAN,BCAN EXON Missense_T443K,Missense_T443K exm109757 1 156622208 [T/C] NM_021948,NM_198427 BCAN,BCAN EXON Missense_P489L,Missense_P489L rs1056695 1 156622252 [A/G] NM_021948,NM_198427 BCAN,BCAN EXON Missense_E504K,Missense_E504K exm109758 1 156622252 [A/G] NM_021948,NM_198427 BCAN,BCAN EXON Missense_E504K,Missense_E504K exm109771 1 156622495 [A/G] NM_021948,NM_198427 BCAN,BCAN EXON Missense_T585A,Missense_T585A exm109775 1 156622525 [A/C] NM_021948,NM_198427 BCAN,BCAN EXON Missense_L595I,Missense_L595I exm109779 1 156622705 [A/G] NM_021948,NM_198427 BCAN,BCAN EXON Silent,Missense_T655A exm109784 1 156626137 [A/G] NM_021948 BCAN EXON Missense_R669H exm109789 1 156626166 [G/C] NM_021948 BCAN EXON Missense_D679H exm109794 1 156626789 [T/C] NM_021948 BCAN EXON Missense_S704P exm109795 1 156626796 [T/G] NM_021948 BCAN EXON Missense_R706L exm2250007 1 156628363 [G/C] NM_021948 BCAN EXON Synonymous_P822P exm109816 1 156628394 [T/C] NM_021948 BCAN EXON Missense_R833C exm109828 1 156628909 [A/C] NM_021948 BCAN EXON Missense_P907T exm2264907 1 156629037 [A/G] NM_021948 BCAN EXON Silent exm109834 1 156639215 [T/A] NM_006617 NES EXON Missense_T1589S exm109838 1 156639277 [A/G] NM_006617 NES EXON Missense_P1568L exm109839 1 156639305 [C/G] NM_006617 NES EXON Missense_Q1559E exm109848 1 156639545 [T/C] NM_006617 NES EXON Missense_G1479S exm109851 1 156639584 [T/C] NM_006617 NES EXON Missense_S1466G rs3748570 1 156640156 [A/G] NM_006617 NES EXON Missense_P1275L exm109872 1 156640156 [A/G] NM_006617 NES EXON Missense_P1275L exm1719129 1 156640385 [G/C] NM_006617 NES EXON Missense_A1199P exm109892 1 156640469 [T/C] NM_006617 NES EXON Missense_G1171S rs3828043 1 156640503 [T/C] NM_006617 NES EXON Synonymous_G1159G exm109896 1 156640505 [T/C] NM_006617 NES EXON Missense_G1159R exm109898 1 156640581 [C/G] NM_006617 NES EXON Missense_R1133S exm109902 1 156640667 [A/C] NM_006617 NES EXON Missense_V1105L exm109903 1 156640678 [A/G] NM_006617 NES EXON Missense_P1101L exm109906 1 156640760 [G/C] NM_006617 NES EXON Missense_G1074R exm109911 1 156640933 [T/C] NM_006617 NES EXON Missense_S1016N exm109916 1 156641119 [A/G] NM_006617 NES EXON Missense_T954M exm109918 1 156641131 [A/C] NM_006617 NES EXON Missense_R950M exm109919 1 156641200 [A/T] NM_006617 NES EXON Missense_E927V exm1719137 1 156641353 [A/G] NM_006617 NES EXON Missense_V876A exm109930 1 156641477 [T/C] NM_006617 NES EXON Missense_E835K exm109932 1 156641491 [T/C] NM_006617 NES EXON Missense_K830R rs951781 1 156641537 [T/C] NM_006617 NES EXON Missense_V815I var_1_156641603 1 156641603 [A/G] NM_006617 NES EXON Nonsense_Q793X exm109937 1 156641609 [T/G] NM_006617 NES EXON Missense_L791I newrs148343241 1 156641687 [A/G] NM_006617 NES EXON Nonsense_R765X exm109942 1 156641746 [G/C] NM_006617 NES EXON Missense_R745T exm109946 1 156641908 [A/G] NM_006617 NES EXON Missense_P691L exm109954 1 156642155 [G/C] NM_006617 NES EXON Missense_E609Q exm109955 1 156642158 [T/C] NM_006617 NES EXON Missense_K608E variant.7431 1 156642207 [A/C] NM_006617 NES EXON Missense_K591N exm109959 1 156642277 [A/G] NM_006617 NES EXON Missense_L568P exm109961 1 156642301 [A/G] NM_006617 NES EXON Missense_L560P exm109967 1 156642568 [A/C] NM_006617 NES EXON Missense_S471I exm1719157 1 156646306 [T/G] NM_006617 NES EXON Missense_Q251K exm110004 1 156646668 [A/G] NM_006617 NES EXON Missense_V130A rs11264516 1 156650909 [T/C] rs7532302 1 156659768 [T/C] rs3935541 1 156662372 [A/G] rs11264527 1 156667399 [T/C] exm110031 1 156670334 [G/C] NM_001199723,NM_001878 CRABP2,CRABP2 EXON Synonymous_L122L,Synonymous_L122L exm110032 1 156670351 [T/C] NM_001199723,NM_001878 CRABP2,CRABP2 EXON Missense_D117N,Missense_D117N var_1_156670380 1 156670381 [D/I] NM_001199723,NM_001878 CRABP2,CRABP2 EXON exm110042 1 156670829 [A/G] NM_001199723,NM_001878 CRABP2,CRABP2 EXON Missense_L29P,Missense_L29P variant.7439 1 156675169 [A/C] NM_001199723,NM_001878 CRABP2,CRABP2 EXON Missense_G24W,Missense_G24W rs12140437 1 156686005 [A/C] rs6427327 1 156688372 [A/G] rs1133856 1 156693135 [T/C] NM_001303095 ISG20L2 EXON Silent rs12023776 1 156695537 [A/G] NM_001303095 ISG20L2 Silent exm110070 1 156696974 [C/G] NM_001303095 ISG20L2 EXON Missense_Q157H exm110075 1 156697056 [T/C] NM_001303095 ISG20L2 EXON Missense_N130S exm110081 1 156697255 [T/A] NM_001303095 ISG20L2 EXON Missense_T64S rs10908517 1 156698346 [A/C] NM_015997,NM_001142560 RRNAD1,RRNAD1 EXON Silent,Silent exm110086 1 156698943 [A/G] NM_015997,NM_001142560 RRNAD1,RRNAD1 EXON Missense_Q16R,Missense_Q16R exm-rs12145743 1 156700651 [T/G] NM_015997,NM_001142560 RRNAD1,RRNAD1 Silent,Silent rs7550297 1 156700845 [A/C] NM_015997,NM_001142560 RRNAD1,RRNAD1 Silent,Silent exm110102 1 156702216 [A/G] NM_015997,NM_001142560 RRNAD1,RRNAD1 EXON Missense_R127Q,Missense_R127Q indel.7443 1 156702797 [I/D] NM_015997,NM_001142560 RRNAD1,RRNAD1 EXON exm110109 1 156702820 [T/C] NM_015997,NM_001142560 RRNAD1,RRNAD1 EXON Missense_V158A,Missense_V158A exm110118 1 156703837 [A/G] NM_015997,NM_001142560 RRNAD1,RRNAD1 EXON Missense_V225M,Silent exm110144 1 156705634 [T/G] NM_015997,NM_001142560 RRNAD1,RRNAD1 EXON Synonymous_A413A,Missense_S252A exm110146 1 156705683 [T/C] NM_015997,NM_001142560 RRNAD1,RRNAD1 EXON Synonymous_L430L,Missense_A268V exm110157 1 156706501 [T/C] NM_015997,NM_001142560 RRNAD1,RRNAD1 EXON Missense_P462S,Silent indel.7449 1 156707514 [D/I] NM_145729,NM_024540 MRPL24,MRPL24 EXON exm110170 1 156707553 [G/C] NM_145729,NM_024540 MRPL24,MRPL24 EXON Missense_I133M,Missense_I133M exm2231488 1 156707844 [T/G] NM_145729,NM_024540 MRPL24,MRPL24 EXON Missense_K121T,Missense_K121T exm1719237 1 156708315 [A/G] NM_145729,NM_024540 MRPL24,MRPL24 EXON Missense_T61M,Missense_T61M exm110183 1 156708367 [T/C] NM_145729,NM_024540 MRPL24,MRPL24 EXON Missense_V44M,Missense_V44M exm110188 1 156708460 [T/C] NM_145729,NM_024540 MRPL24,MRPL24 EXON Missense_V13I,Missense_V13I exm2273339 1 156713234 [T/C] NM_001319188,NM_001319186,NM_001319187,NM_001126051,NR_135008,NM_001126050,NM_004494 HDGF,HDGF,HDGF,HDGF,HDGF,HDGF,HDGF EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm110193 1 156713451 [A/G] NM_001319188,NM_001319186,NM_001319187,NM_001126051,NR_135008,NM_001126050,NM_004494 HDGF,HDGF,HDGF,HDGF,HDGF,HDGF,HDGF EXON Missense_H205Y,Missense_H260Y,Missense_H205Y,Missense_H230Y,Silent,Missense_H253Y,Missense_H237Y exm110202 1 156713558 [A/G] NM_001319188,NM_001319186,NM_001319187,NM_001126051,NR_135008,NM_001126050,NM_004494 HDGF,HDGF,HDGF,HDGF,HDGF,HDGF,HDGF EXON Missense_P169L,Missense_P224L,Missense_P169L,Missense_P194L,Silent,Missense_P217L,Missense_P201L exm110207 1 156713631 [T/C] NM_001319188,NM_001319186,NM_001319187,NM_001126051,NR_135008,NM_001126050,NM_004494 HDGF,HDGF,HDGF,HDGF,HDGF,HDGF,HDGF EXON Missense_G145R,Missense_G200R,Missense_G145R,Missense_G170R,Silent,Missense_G193R,Missense_G177R exm110209 1 156713657 [T/C] NM_001319188,NM_001319186,NM_001319187,NM_001126051,NR_135008,NM_001126050,NM_004494 HDGF,HDGF,HDGF,HDGF,HDGF,HDGF,HDGF EXON Missense_R136H,Missense_R191H,Missense_R136H,Missense_R161H,Silent,Missense_R184H,Missense_R168H exm110211 1 156713960 [T/G] NM_001319188,NM_001319186,NM_001319187,NM_001126051,NR_135008,NM_001126050,NM_004494 HDGF,HDGF,HDGF,HDGF,HDGF,HDGF,HDGF EXON Missense_L130M,Missense_L185M,Missense_L130M,Missense_L155M,Silent,Missense_L178M,Missense_L162M exm110214 1 156714026 [A/C] NM_001319188,NM_001319186,NM_001319187,NM_001126051,NR_135008,NM_001126050,NM_004494 HDGF,HDGF,HDGF,HDGF,HDGF,HDGF,HDGF EXON Missense_V108F,Missense_V163F,Missense_V108F,Missense_V133F,Silent,Missense_V156F,Missense_V140F exm110232 1 156721861 [A/G] NM_001319186,NM_001126051,NR_135008,NM_001126050 HDGF,HDGF,HDGF,HDGF EXON Silent,Missense_T12M,Silent,Silent rs11805654 1 156725653 [T/G] exm110240 1 156737617 [C/G] NM_005973 PRCC EXON Missense_E18D rs11264542 1 156737969 [T/C] NM_005973 PRCC EXON Missense_P136S rs11264546 1 156743173 [A/G] NM_005973 PRCC Silent rs1412310 1 156746608 [A/G] NM_005973 PRCC Silent exm110261 1 156752120 [A/C] NM_005973 PRCC EXON Missense_Q172P rs3765787 1 156754465 [T/C] NM_005973 PRCC Silent exm1719266 1 156756568 [T/C] NM_005973 PRCC EXON Missense_L229F exm110279 1 156756739 [C/G] NM_005973 PRCC EXON Missense_P286A exm110289 1 156756905 [A/G] NM_005973 PRCC EXON Missense_D341G variant.7453 1 156760931 [T/C] NM_005973 PRCC Silent exm110299 1 156761540 [A/C] NM_005973 PRCC EXON Missense_P379T exm110301 1 156761543 [G/C] NM_005973 PRCC EXON Missense_Q380E rs3765783 1 156765973 [T/C] NM_005973 PRCC Silent rs16837672 1 156774021 [A/G] rs2644608 1 156774029 [T/C] variant.7454 1 156776967 [T/C] NM_003975,NM_001161442,NM_001161443,NM_001161441,NM_001161444 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A EXON Silent,Silent,Silent,Silent,Silent exm110312 1 156776968 [A/G] NM_003975,NM_001161442,NM_001161443,NM_001161441,NM_001161444 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A EXON Silent,Silent,Silent,Silent,Silent exm110314 1 156777017 [T/G] NM_003975,NM_001161442,NM_001161443,NM_001161441,NM_001161444 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A EXON Missense_L375I,Missense_L357I,Missense_L347I,Missense_L385I,Missense_L375I exm2231490 1 156779048 [C/G] NM_003975,NM_001161442,NM_001161443,NM_001161441,NM_001161444 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A EXON Missense_L317V,Missense_L299V,Missense_L289V,Missense_L327V,Missense_L317V exm110335 1 156779505 [T/C] NM_003975,NM_001161442,NM_001161443,NM_001161441,NM_001161444 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A EXON Missense_K221R,Missense_K203R,Missense_K193R,Missense_K231R,Missense_K221R exm1719300 1 156784913 [T/C] NM_003975,NM_001161442,NM_001161443,NM_001161441,NM_001161444 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A EXON Missense_R75Q,Missense_R57Q,Missense_R47Q,Missense_R75Q,Missense_R75Q exm110358 1 156784982 [T/C] NM_003975,NM_001161442,NM_001161443,NM_001161441,NM_001161444 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A EXON Missense_N52S,Missense_N34S,Missense_N24S,Missense_N52S,Missense_N52S rs1800601 1 156785617 [A/G] NM_003975,NM_001161442,NM_001161443,NM_001161441,NM_001161444,NM_001007792 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A,NTRK1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm110370 1 156785800 [A/C] NM_003975,NM_001161442,NM_001161443,NM_001161441,NM_001161444,NM_001007792 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A,NTRK1 EXON Missense_A41S,Missense_A23S,Missense_A13S,Missense_A41S,Missense_A41S,Silent exm110378 1 156786487 [T/A] NM_003975,NM_001161442,NM_001161441,NM_001161444,NM_001007792 SH2D2A,SH2D2A,SH2D2A,SH2D2A,NTRK1 EXON Missense_L5Q,Silent,Missense_L5Q,Missense_L5Q,Silent rs7522395 1 156796697 [T/C] NM_001007792 NTRK1 Silent rs4661061 1 156802657 [A/G] NM_001007792 NTRK1 Silent rs7534418 1 156805803 [T/C] NM_001007792 NTRK1 Silent rs12120577 1 156809883 [T/C] NM_001007792 NTRK1 Silent exm110391 1 156810763 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R1266W exm110393 1 156810789 [A/T] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_L1257H exm110400 1 156811202 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_G1216S exm110403 1 156811231 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_M1206T exm110405 1 156811255 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_N1198S exm110416 1 156811515 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R1157C exm110426 1 156811909 [T/A] NM_001007792,NM_014215 NTRK1,INSRR EXON Missense_I16F,Missense_I1131N exm110430 1 156811994 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_M1103V exm110435 1 156812213 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Nonsense_R1072X exm110437 1 156812236 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R1064H exm110440 1 156812296 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R1044H indel.7462 1 156812800 [D/I] NM_001007792,NM_014215 NTRK1,INSRR EXON exm110465 1 156814385 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R869Q exm110469 1 156814548 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_P842L exm110471 1 156814608 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_V822A exm110473 1 156814868 [T/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Synonymous_R813R exm110489 1 156815411 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_I725T exm110501 1 156815806 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_L639P exm110515 1 156816335 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_V596I exm110529 1 156819094 [A/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R463L exm110534 1 156819165 [C/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_K439N exm110562 1 156821759 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_G288S exm110566 1 156821786 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R279C exm110572 1 156821885 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_C246R exm110573 1 156821890 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R244H exm110595 1 156823801 [T/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_A127E exm110596 1 156823805 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_V126M exm110617 1 156823976 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R69C exm2250011 1 156824007 [T/C] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Synonymous_L58L exm110620 1 156824054 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_R43C exm110623 1 156828358 [A/G] NM_001007792,NM_014215 NTRK1,INSRR EXON Silent,Missense_S19F exm110633 1 156834169 [A/T] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_L49Q,Missense_L79Q,Missense_L79Q exm110635 1 156834187 [A/G] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_R55H,Missense_R85H,Missense_R85H exm2231495 1 156834198 [A/G] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_G59S,Missense_G89S,Missense_G89S exm110644 1 156834527 [A/G] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_V69M,Missense_V99M,Missense_V99M exm1719390 1 156834558 [A/G] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_D79G,Missense_D109G,Missense_D109G exm110655 1 156837904 [T/C] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_S116L,Missense_S146L,Missense_S146L exm110660 1 156837949 [A/G] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_R131H,Missense_R161H,Missense_R161H exm110668 1 156838324 [A/C] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_P171H,Missense_P201H,Missense_P201H exm110669 1 156838333 [T/C] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_S174L,Missense_S204L,Missense_S204L exm110672 1 156838353 [A/G] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_V181M,Missense_V211M,Missense_V211M exm110688 1 156843439 [A/C] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_Q259K,Missense_Q289K,Missense_Q289K exm110692 1 156843514 [T/C] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_R284C,Missense_R314C,Missense_R314C exm110698 1 156843595 [A/G] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_V311M,Missense_V341M,Missense_V341M exm1719411 1 156844404 [G/C] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_E377Q,Missense_E407Q,Missense_E413Q exm110721 1 156844777 [A/G] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_R408Q,Missense_R438Q,Missense_R444Q exm110723 1 156844800 [T/C] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_R416C,Missense_R446C,Missense_R452C variant.7482 1 156844801 [T/G] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 Silent,Silent,Silent exm110726 1 156845431 [A/G] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_E456K,Missense_E486K,Missense_E492K exm1719422 1 156845892 [A/C] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Synonymous_R472R,Synonymous_R502R,Synonymous_R508R exm2273701 1 156846256 [T/C] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_M530T,Missense_M560T,Missense_M566T exm110740 1 156846300 [A/G] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_E545K,Missense_E575K,Missense_E581K exm110750 1 156848918 [T/C] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_H568Y,Missense_H598Y,Missense_H604Y exm110751 1 156848946 [T/G] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_G577V,Missense_G607V,Missense_G613V exm110768 1 156849792 [T/G] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_V647G,Missense_V677G,Missense_V683G exm110781 1 156851265 [T/C] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_T705M,Missense_T735M,Missense_T741M exm110788 1 156851382 [A/G] NM_001007792,NM_001012331,NM_002529 NTRK1,NTRK1,NTRK1 EXON Missense_R744Q,Missense_R774Q,Missense_R780Q rs943551 1 156855497 [T/C] rs3118644 1 156863043 [T/C] exm-rs12566888 1 156869047 [T/G] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 Silent,Silent,Silent rs2768744 1 156872149 [A/G] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 Silent,Silent,Silent exm110815 1 156875126 [T/C] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_R9W,Missense_R9W,Missense_R73W exm110817 1 156875154 [T/C] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_T18M,Missense_T18M,Missense_T82M rs2644592 1 156875764 [A/G] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 Silent,Silent,Silent exm110832 1 156876543 [A/C] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_P108Q,Missense_P108Q,Missense_P172Q exm110835 1 156876636 [A/G] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_G139E,Missense_G139E,Missense_G203E exm110836 1 156876650 [C/G] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_P144A,Missense_P144A,Missense_P208A exm110840 1 156877457 [T/C] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_S170P,Missense_S170P,Missense_S234P exm110849 1 156877782 [T/G] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_G217C,Missense_G217C,Missense_G281C exm110857 1 156878039 [T/C] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_T277I,Missense_T277I,Missense_T341I exm110858 1 156878044 [A/G] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_D279N,Missense_D279N,Missense_D343N rs6671392 1 156878737 [T/C] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Synonymous_P376P,Synonymous_P376P,Synonymous_P440P exm110874 1 156879581 [A/G] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_G420R,Missense_G420R,Missense_G484R exm110878 1 156879633 [T/C] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_V437A,Missense_V437A,Missense_V501A exm110901 1 156882048 [T/C] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_P590L,Missense_P590L,Missense_P654L exm110909 1 156882331 [A/C] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_Q645P,Missense_Q645P,Missense_Q709P exm110917 1 156882627 [A/G] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_I695V,Missense_I695V,Missense_I759V exm110920 1 156882654 [A/G] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_V704M,Missense_V704M,Missense_V768M exm110924 1 156882741 [A/G] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_G733R,Missense_G733R,Missense_G797R exm110927 1 156882757 [C/G] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_S738C,Missense_S738C,Missense_S802C exm1719504 1 156883282 [T/C] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_R807C,Missense_R807C,Missense_R871C exm110947 1 156883493 [A/G] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_R821H,Missense_R821H,Missense_R885H exm110949 1 156883546 [A/G] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_N839D,Missense_N839D,Missense_N903D exm110950 1 156883547 [A/G] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_N839S,Missense_N839S,Missense_N903S exm110953 1 156883667 [A/G] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Missense_G849R,Missense_G849R,Missense_G913R exm110968 1 156883891 [T/C] NM_001353683,NM_001353682,NM_001080471 PEAR1,PEAR1,PEAR1 EXON Synonymous_H923H,Synonymous_H923H,Synonymous_H987H exm110982 1 156890672 [T/C] NM_144702 LRRC71 EXON Missense_V26A rs12143768 1 156891610 [A/G] NM_144702 LRRC71 Silent exm110988 1 156894486 [T/C] NM_144702 LRRC71 EXON Missense_P164L exm111004 1 156897591 [T/G] NM_144702 LRRC71 EXON Missense_A297S exm111008 1 156899079 [T/C] NM_144702 LRRC71 EXON Missense_S335F exm1719534 1 156899145 [T/C] NM_144702 LRRC71 EXON Missense_A357V indel.7503 1 156899209 [D/I] NM_144702 LRRC71 EXON variant.7505 1 156900319 [A/G] NM_144702 LRRC71 Silent exm111021 1 156900320 [G/C] NM_144702 LRRC71 Silent variant.7508 1 156901762 [T/C] NM_144702 LRRC71 EXON Nonsense_R462X variant.7509 1 156901819 [T/C] NM_144702 LRRC71 EXON Missense_R481W rs822429 1 156901888 [T/C] NM_144702 LRRC71 Silent exm111029 1 156902222 [A/G] NM_144702 LRRC71 EXON Missense_R483H rs822430 1 156902259 [A/G] NM_144702 LRRC71 EXON Synonymous_T495T exm111031 1 156902281 [T/G] NM_144702 LRRC71 EXON Missense_S503A exm111032 1 156902311 [A/G] NM_144702 LRRC71 EXON Missense_V513M exm111040 1 156902678 [A/G] NM_144702 LRRC71 EXON Missense_A533T exm111047 1 156905823 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_T1513I,Missense_T1553I exm111049 1 156905847 [C/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_S1505C,Missense_S1545C exm111064 1 156906757 [G/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_G1454A,Missense_G1494A exm111070 1 156907081 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_H1427R,Missense_H1467R exm111071 1 156907091 [A/T] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_M1424L,Missense_M1464L exm111072 1 156907096 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_V1422A,Missense_V1462A exm111074 1 156907115 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_S1416G,Missense_S1456G exm111075 1 156907126 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_R1412H,Missense_R1452H exm111080 1 156907247 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_S1372P,Missense_S1412P exm111084 1 156907264 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_P1366L,Missense_P1406L exm111087 1 156908212 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_T1357M,Missense_T1397M exm111088 1 156908225 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_G1353R,Missense_G1393R exm111106 1 156909655 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_T1221A,Missense_T1261A rs2275199 1 156909695 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Synonymous_N1207N,Synonymous_N1247N exm111126 1 156911718 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_M1090I,Missense_M1130I var_1_156912482 1 156912482 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_T1069I,Missense_T1109I exm111153 1 156916516 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_I838V,Missense_I878V exm2275270 1 156916729 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_R816Q,Missense_R856Q exm111162 1 156917152 [T/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_P771H,Missense_P811H exm2231503 1 156917583 [A/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_I733M,Missense_I773M exm2231504 1 156917977 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_R677C,Missense_R717C variant.7515 1 156926207 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 Silent,Silent exm111195 1 156926340 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_A475T,Missense_A515T exm111196 1 156926356 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Synonymous_S469S,Synonymous_S509S exm111198 1 156927607 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Synonymous_L461L,Synonymous_L501L rs12132684 1 156927751 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 Silent,Silent exm111200 1 156928561 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_K452R,Missense_K492R exm111201 1 156928576 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_R447H,Missense_R487H exm2273703 1 156928654 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_T421M,Missense_T461M var_1_156931516 1 156931516 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Nonsense_R358X,Nonsense_R398X variant.7518 1 156932994 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 Silent,Silent exm2231505 1 156933003 [T/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_S338R,Missense_S378R variant.7519 1 156933307 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 Silent,Silent exm111236 1 156937916 [A/T] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_S236T,Missense_S276T exm111238 1 156939114 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_G222D,Missense_G262D exm111239 1 156939148 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_R211W,Missense_R251W exm111250 1 156941578 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Silent,Missense_A205T exm111259 1 156948127 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_M127V,Missense_M127V exm2250012 1 156949073 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Synonymous_N93N,Synonymous_N93N rs1572416 1 156952054 [A/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 Silent,Silent exm111265 1 156954132 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Synonymous_P74P,Synonymous_P74P exm111266 1 156954136 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_R73Q,Missense_R73Q exm111267 1 156954137 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_R73W,Missense_R73W exm111269 1 156954161 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_R65C,Missense_R65C rs7542311 1 156964052 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 Silent,Silent rs822577 1 156972467 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 Silent,Silent rs967072 1 156972485 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 Silent,Silent rs1094561 1 156992753 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 Silent,Silent rs822572 1 157014702 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Silent,Silent rs4661083 1 157055048 [T/C] rs1055106 1 157061973 [T/C] NM_001004341 ETV3L EXON Silent exm111284 1 157062575 [T/C] NM_001004341 ETV3L EXON Missense_M318V exm111289 1 157062631 [T/C] NM_001004341 ETV3L EXON Missense_R299K exm111293 1 157062688 [A/G] NM_001004341 ETV3L EXON Missense_A280V exm111297 1 157062736 [A/G] NM_001004341 ETV3L EXON Missense_A264V exm111298 1 157062739 [G/C] NM_001004341 ETV3L EXON Missense_G263A exm111305 1 157067659 [T/C] NM_001004341 ETV3L Silent exm111306 1 157067660 [A/G] NM_001004341 ETV3L EXON Nonsense_R203X exm111307 1 157067666 [T/C] NM_001004341 ETV3L EXON Missense_V201I exm111309 1 157067672 [T/G] NM_001004341 ETV3L EXON Missense_S199R exm111312 1 157067699 [T/C] NM_001004341 ETV3L EXON Missense_T190A exm111314 1 157067719 [G/C] NM_001004341 ETV3L EXON Missense_T183S exm111320 1 157068533 [A/G] NM_001004341 ETV3L EXON Missense_R151W exm111322 1 157068561 [C/G] NM_001004341 ETV3L EXON Missense_H141Q exm111326 1 157068595 [C/G] NM_001004341 ETV3L EXON Missense_P130R exm111342 1 157069134 [A/G] NM_001004341 ETV3L EXON Missense_S32L exm111346 1 157069261 [A/C] NM_001004341 ETV3L EXON Missense_S19A rs6689840 1 157077577 [T/G] rs1183449 1 157083817 [A/G] rs946577 1 157086131 [A/G] exm111358 1 157094802 [T/G] NM_001145312 ETV3 EXON Missense_K457T rs7521824 1 157102939 [T/C] NM_001145312 ETV3 Silent exm111373 1 157103913 [A/G] NM_001145312,NM_005240 ETV3,ETV3 EXON Missense_R131W,Missense_R131W rs6427353 1 157109624 [A/G] rs10494309 1 157118421 [T/C] exm-rs11264625 1 157128705 [T/C] exm-rs6427356 1 157130566 [A/G] rs6657097 1 157130719 [A/G] rs6700498 1 157133150 [T/C] rs1176542 1 157133476 [A/G] rs883328 1 157147109 [T/C] rs6675916 1 157151523 [T/C] rs2275447 1 157156851 [T/C] rs11264631 1 157176781 [A/G] rs10494310 1 157193893 [A/G] rs6656933 1 157197805 [T/G] rs6673923 1 157202651 [A/G] rs7524426 1 157204332 [T/C] rs1591785 1 157206284 [T/G] rs12120788 1 157237374 [A/C] rs11264659 1 157239514 [A/G] rs12079878 1 157244089 [A/C] rs1338685 1 157252102 [T/C] rs1000073 1 157255396 [A/G] rs1535982 1 157256043 [A/C] rs12130232 1 157259119 [A/G] rs6682568 1 157263272 [T/C] rs9427247 1 157276277 [A/G] rs1338678 1 157283479 [A/G] rs4661119 1 157306264 [T/C] rs7535100 1 157319351 [A/C] rs4661028 1 157322310 [A/C] rs873448 1 157330887 [T/G] rs2147445 1 157335891 [T/C] rs11264701 1 157338665 [T/C] rs6677369 1 157341897 [T/C] rs12408914 1 157346107 [T/C] rs4661142 1 157348712 [T/C] rs2209354 1 157354879 [T/C] exm2268768 1 157367179 [T/C] rs12734925 1 157367179 [T/C] rs10908563 1 157369202 [A/G] rs7549840 1 157372996 [A/C] rs12073794 1 157375078 [T/C] rs4246535 1 157383945 [T/C] rs4246536 1 157384175 [T/C] rs16838537 1 157385496 [T/C] rs9427273 1 157386282 [T/C] rs7416817 1 157386331 [T/C] rs7416823 1 157386394 [T/C] rs12748574 1 157387799 [T/C] rs7535020 1 157393023 [T/C] rs7523656 1 157402121 [A/G] rs1970101 1 157402470 [T/C] rs4246538 1 157406190 [A/G] rs6686423 1 157437510 [A/G] rs6675938 1 157441651 [T/C] rs11264737 1 157442117 [A/G] rs11264738 1 157442315 [A/G] rs950453 1 157449254 [A/G] rs6680515 1 157463366 [T/C] rs7340113 1 157474737 [T/C] rs3843307 1 157484575 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Silent,Silent exm111388 1 157485429 [G/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Silent,Missense_C987S exm111390 1 157485472 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_H976R,Missense_T973A exm111392 1 157485504 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Synonymous_S965S,Missense_P962L exm111393 1 157485511 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_P963L,Missense_R960W exm111394 1 157485519 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Synonymous_A960A,Missense_R957H exm111407 1 157488519 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Nonsense_W905X,Nonsense_W905X exm1720130 1 157489532 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 Silent,Silent exm111446 1 157494243 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_I689V,Missense_I689V newrs145731616 1 157497406 [A/C] NM_031281,NM_001195388 FCRL5,FCRL5 Silent,Silent 1KG_1_157504353 1 157504353 [D/I] NM_031281,NM_001195388 FCRL5,FCRL5 variant.7535 1 157504541 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Nonsense_W515X,Nonsense_W515X exm111477 1 157504557 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_E510K,Missense_E510K indel.7536 1 157504620 [I/D] NM_031281,NM_001195388 FCRL5,FCRL5 EXON rs1972240 1 157508607 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 Silent,Silent exm111483 1 157508882 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_V466I,Missense_V466I exm111487 1 157508906 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_R458C,Missense_R458C exm111488 1 157508908 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_Q457R,Missense_Q457R exm111493 1 157508997 [T/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_N427K,Missense_N427K exm111494 1 157509005 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_S425P,Missense_S425P exm111496 1 157509025 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_G418D,Missense_G418D exm111498 1 157509125 [T/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_S385R,Missense_S385R exm111499 1 157509143 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_H379Y,Missense_H379Y rs1977588 1 157510939 [A/C] NM_031281,NM_001195388 FCRL5,FCRL5 Silent,Silent rs16838771 1 157511228 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 Silent,Silent exm111509 1 157512702 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_A357V,Missense_A357V exm111514 1 157512819 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_L318S,Missense_L318S variant.7539 1 157514047 [A/C] NM_031281,NM_001195388 FCRL5,FCRL5 Silent,Silent exm111522 1 157514075 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_P274L,Missense_P274L exm111528 1 157514097 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_Y267H,Missense_Y267H exm111534 1 157514216 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_R227H,Missense_R227H exm111536 1 157514228 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_P223L,Missense_P223L exm111540 1 157514324 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_R191H,Missense_R191H exm111541 1 157514654 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_V176I,Missense_V176I exm111547 1 157516802 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_S80P,Missense_S80P exm111548 1 157516823 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_N73D,Missense_N73D exm111550 1 157516861 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_R60Q,Missense_R60Q exm111551 1 157516913 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_T43A,Missense_T43A indel.7540 1 157516961 [D/I] NM_031281,NM_001195388 FCRL5,FCRL5 EXON rs7531685 1 157517127 [T/C] NM_031281,NM_001195388 FCRL5,FCRL5 Silent,Silent exm111560 1 157522133 [A/G] NM_031281,NM_001195388 FCRL5,FCRL5 EXON Missense_L7S,Missense_L7S rs2758684 1 157537530 [T/G] rs7523341 1 157540104 [T/G] rs849827 1 157545231 [T/G] NM_031282 FCRL4 EXON Silent exm2231514 1 157545384 [T/C] NM_031282 FCRL4 EXON Missense_Y493C exm111568 1 157548323 [T/C] NM_031282 FCRL4 EXON Missense_K457R exm1720203 1 157548565 [A/G] NM_031282 FCRL4 EXON Missense_V452A indel.7542 1 157548570 [I/D] NM_031282 FCRL4 EXON exm2250023 1 157550119 [A/G] NM_031282 FCRL4 EXON Synonymous_D423D exm111580 1 157551321 [G/C] NM_031282 FCRL4 EXON Missense_G417R exm111582 1 157551333 [A/G] NM_031282 FCRL4 EXON Missense_R413W exm111584 1 157551336 [A/G] NM_031282 FCRL4 EXON Missense_R412C exm2231515 1 157551369 [A/G] NM_031282 FCRL4 EXON Missense_L401F exm111589 1 157551402 [T/C] NM_031282 FCRL4 EXON Missense_A390T exm111590 1 157551405 [T/C] NM_031282 FCRL4 EXON Missense_A389T exm2250024 1 157555998 [A/G] NM_031282 FCRL4 EXON Synonymous_Y365Y exm111599 1 157556009 [T/C] NM_031282 FCRL4 EXON Missense_D362N exm111601 1 157556027 [T/C] NM_031282 FCRL4 EXON Missense_G356R exm111602 1 157556042 [G/C] NM_031282 FCRL4 EXON Missense_Q351E exm111604 1 157556120 [A/G] NM_031282 FCRL4 EXON Nonsense_R325X exm111605 1 157556132 [A/C] NM_031282 FCRL4 EXON Missense_F321V exm111608 1 157556159 [T/C] NM_031282 FCRL4 EXON Missense_V312M rs2777963 1 157556532 [A/G] NM_031282 FCRL4 Silent exm111614 1 157557111 [A/C] NM_031282 FCRL4 EXON Missense_G268C exm111615 1 157557149 [T/C] NM_031282 FCRL4 EXON Missense_N255S exm111621 1 157557269 [T/C] NM_031282 FCRL4 EXON Missense_Q215R variant.7548 1 157557270 [A/G] NM_031282 FCRL4 EXON Nonsense_Q215X exm111624 1 157557301 [A/C] NM_031282 FCRL4 EXON Missense_E204D exm2277003 1 157557301 [T/C] NM_031282 FCRL4 EXON Synonymous_E204E exm111625 1 157557320 [A/G] NM_031282 FCRL4 EXON Missense_T198I exm111630 1 157557721 [A/G] NM_031282 FCRL4 EXON Nonsense_R166X exm1720226 1 157559038 [T/C] NM_031282 FCRL4 EXON Missense_R88Q exm111639 1 157559039 [A/G] NM_031282 FCRL4 EXON Missense_R88W exm111641 1 157559068 [T/C] NM_031282 FCRL4 EXON Missense_R78Q exm111644 1 157559075 [T/C] NM_031282 FCRL4 EXON Missense_E76K exm111648 1 157559122 [T/C] NM_031282 FCRL4 EXON Missense_R60Q exm111652 1 157559243 [T/C] NM_031282 FCRL4 EXON Missense_A20T exm111653 1 157559247 [T/C] NM_031282 FCRL4 EXON Synonymous_A18A exm111654 1 157566136 [A/G] NM_031282 FCRL4 EXON Missense_P12S exm111658 1 157567709 [A/G] NM_031282 FCRL4 EXON Missense_A9V rs2778003 1 157569194 [A/G] rs2208753 1 157584301 [A/C] rs2777971 1 157588430 [A/G] rs2777976 1 157591350 [A/C] rs2758620 1 157605501 [T/C] rs2758688 1 157607377 [T/C] rs10489676 1 157619889 [T/C] rs12082327 1 157634415 [T/C] rs12125366 1 157641489 [A/G] rs10908583 1 157641683 [T/C] newrs142242973 1 157648533 [A/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Synonymous_N724N,Silent,Silent,Silent,Synonymous_N724N exm111669 1 157648543 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_N721S,Silent,Silent,Silent,Missense_N721S exm111671 1 157648581 [C/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_S708R,Silent,Silent,Silent,Missense_S708R exm111672 1 157648597 [G/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_S703C,Silent,Silent,Silent,Missense_S703C exm111684 1 157650539 [A/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_P660L,Silent,Silent,Silent,Missense_P660L variant.7552 1 157650770 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 Silent,Silent,Silent,Silent,Silent,Silent exm111686 1 157650798 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_M644V,Silent,Silent,Silent,Missense_M644V exm111692 1 157650828 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_E634K,Silent,Silent,Silent,Missense_E634K exm111696 1 157653034 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_G604E,Silent,Silent,Silent,Missense_G604E exm111697 1 157653036 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 Silent,Silent,Silent,Silent,Silent,Silent rs7549100 1 157657842 [A/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 Silent,Silent,Silent,Silent,Silent,Silent newrs145465990 1 157659600 [A/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Nonsense_R600X,Silent,Silent,Silent,Nonsense_R600X exm111702 1 157659624 [G/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_A592P,Silent,Silent,Silent,Missense_A592P exm111704 1 157659642 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_V586I,Silent,Silent,Silent,Missense_V586I exm111720 1 157660227 [A/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_S503F,Silent,Silent,Silent,Missense_S503F exm111722 1 157660246 [A/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_C497R,Silent,Silent,Silent,Missense_C497R exm111728 1 157660318 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_V473M,Silent,Silent,Silent,Missense_V473M variant.7557 1 157665119 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_V471I,Silent,Silent,Silent,Missense_V471I exm111740 1 157665394 [A/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_P379L,Silent,Silent,Silent,Missense_P379L newrs140279920 1 157665830 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_I378V,Silent,Silent,Silent,Missense_I378V exm111741 1 157665830 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_I378V,Silent,Silent,Silent,Missense_I378V exm111745 1 157665952 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_R337H,Silent,Silent,Silent,Missense_R337H exm111749 1 157666027 [T/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_A312D,Silent,Silent,Silent,Missense_A312D exm111750 1 157666043 [A/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_L307F,Silent,Silent,Silent,Missense_L307F exm111751 1 157666047 [G/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_M305I,Silent,Silent,Silent,Missense_M305I exm111752 1 157666073 [G/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_G297R,Silent,Silent,Silent,Missense_G297R exm111753 1 157666076 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_G296R,Silent,Silent,Silent,Missense_G296R exm111756 1 157666085 [A/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_R293W,Silent,Silent,Silent,Missense_R293W exm111759 1 157666938 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_R279H,Silent,Silent,Silent,Missense_R279H exm111760 1 157666939 [A/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_R279C,Silent,Silent,Silent,Missense_R279C exm1720313 1 157667083 [C/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_D231H,Silent,Silent,Silent,Missense_D231H exm111772 1 157667213 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Synonymous_E187E,Silent,Silent,Silent,Synonymous_E187E variant.7565 1 157667444 [A/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 Silent,Silent,Silent,Silent,Silent,Silent exm111774 1 157667487 [A/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_I174T,Silent,Silent,Silent,Missense_I174T indel.7566 1 157667497 [D/I] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON exm111779 1 157667571 [A/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_L146S,Silent,Silent,Silent,Missense_L146S exm111784 1 157667647 [A/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Nonsense_Q121X,Silent,Silent,Silent,Nonsense_Q121X exm111786 1 157667667 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_D114G,Silent,Silent,Silent,Missense_D114G exm111788 1 157667693 [G/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_Q105H,Silent,Silent,Silent,Missense_Q105H variant.7567 1 157667706 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Nonsense_W101X,Silent,Silent,Silent,Nonsense_W101X exm111790 1 157668194 [A/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_V93G,Silent,Silent,Silent,Missense_V93G exm111799 1 157668347 [A/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_L42P,Silent,Silent,Silent,Missense_L42P rs7522061 1 157668390 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_N28D,Silent,Silent,Silent,Missense_N28D exm111802 1 157668390 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_N28D,Silent,Silent,Silent,Missense_N28D indel.7570 1 157668404 [D/I] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON exm111803 1 157668414 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_A20T,Silent,Silent,Silent,Missense_A20T exm111804 1 157668419 [A/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_G18V,Silent,Silent,Silent,Missense_G18V rs3761959 1 157669278 [T/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 Silent,Silent,Silent,Silent,Silent,Silent variant.7572 1 157669503 [A/C] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 Silent,Silent,Silent,Silent,Silent,Silent exm111810 1 157670250 [C/G] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Synonymous_L10L,Silent,Silent,Silent,Synonymous_L10L exm111816 1 157670278 [T/A] NR_135217,NM_001320333,NR_135215,NR_135216,NR_135214,NM_052939 FCRL3,FCRL3,FCRL3,FCRL3,FCRL3,FCRL3 EXON Silent,Missense_M1K,Silent,Silent,Silent,Missense_M1K rs7528684 1 157670816 [A/G] rs17676303 1 157679691 [T/C] rs6688945 1 157702017 [A/G] rs6703735 1 157714235 [T/C] exm111824 1 157716528 [A/G] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Missense_X509Q,Silent,Silent exm111825 1 157716564 [T/C] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Missense_D497N,Silent,Synonymous_R436R variant.7573 1 157716669 [A/C] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Nonsense_E494X,Silent,Silent rs3818813 1 157718325 [T/G] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 Silent,Silent,Silent exm111838 1 157718731 [G/C] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Missense_P443A,Silent,Silent exm111845 1 157719445 [T/G] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Missense_E434D,Silent,Missense_E434D exm111852 1 157736760 [A/T] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Synonymous_G388G,Silent,Synonymous_G388G exm111859 1 157737113 [A/G] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Missense_S357F,Silent,Missense_S357F exm1720359 1 157737231 [A/C] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Nonsense_E318X,Silent,Nonsense_E318X exm111869 1 157737287 [T/C] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Missense_R299H,Silent,Missense_R299H rs2873413 1 157737504 [A/G] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 Silent,Silent,Silent newrs138708903 1 157738203 [T/C] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 Silent,Silent,Silent exm111881 1 157738309 [T/G] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Missense_L260M,Silent,Missense_L260M exm111882 1 157738326 [T/C] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Missense_R254H,Silent,Missense_R254H exm111883 1 157738374 [G/C] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Missense_S238C,Silent,Missense_S238C exm111884 1 157738438 [A/T] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Missense_T217S,Silent,Missense_T217S exm111885 1 157738458 [T/C] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Missense_R210Q,Silent,Missense_R210Q exm111886 1 157738482 [T/A] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Missense_I202N,Silent,Missense_I202N exm111889 1 157739716 [G/C] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Missense_A179P,Silent,Missense_A179P exm2275502 1 157739752 [A/C] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Missense_V167L,Silent,Missense_V167L exm111892 1 157739773 [A/G] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Missense_P160S,Silent,Missense_P160S exm111896 1 157739860 [A/G] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Missense_R131W,Silent,Missense_R131W exm111904 1 157740270 [T/C] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Missense_Y80C,Silent,Missense_Y80C 1KG_1_157740427 1 157740427 [D/I] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON exm111916 1 157745566 [T/C] NM_030764,NR_125358,NM_001159488 FCRL2,FCRL2,FCRL2 EXON Synonymous_A17A,Silent,Synonymous_A17A rs6677622 1 157751356 [T/C] exm111918 1 157765901 [T/G] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_E425D,Missense_E426D,Silent exm111919 1 157765932 [T/C] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_R415K,Missense_R416K,Silent exm111927 1 157767706 [A/C] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_V380F,Missense_V380F,Silent exm111932 1 157768014 [T/G] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_P351T,Missense_P351T,Missense_P312T exm111933 1 157768030 [C/G] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_S345R,Missense_S345R,Missense_S306R variant.7582 1 157769848 [T/C] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_R344K,Missense_R344K,Missense_R305K exm111937 1 157769874 [T/G] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Synonymous_G335G,Synonymous_G335G,Synonymous_G296G exm111940 1 157771269 [T/C] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_G329S,Missense_G329S,Silent exm111944 1 157771324 [A/C] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_I310M,Missense_I310M,Silent exm2250027 1 157771739 [A/G] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Synonymous_A284A,Synonymous_A284A,Synonymous_A284A indel.7584 1 157771751 [I/D] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON exm111950 1 157771801 [T/G] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_L264I,Missense_L264I,Missense_L264I exm111955 1 157771855 [T/C] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_D246N,Missense_D246N,Missense_D246N exm111967 1 157771966 [T/C] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_I209V,Missense_I209V,Missense_I209V exm111968 1 157771971 [T/C] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_R207H,Missense_R207H,Missense_R207H exm111975 1 157772175 [A/G] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_T200I,Missense_T200I,Missense_T200I exm111976 1 157772289 [T/C] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_R162H,Missense_R162H,Missense_R162H exm2250028 1 157772318 [T/C] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Synonymous_V152V,Synonymous_V152V,Synonymous_V152V newrs147343694 1 157772333 [T/C] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Nonsense_W147X,Nonsense_W147X,Nonsense_W147X exm111980 1 157772404 [T/C] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_V124M,Missense_V124M,Missense_V124M rs12078586 1 157772404 [T/C] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_V124M,Missense_V124M,Missense_V124M exm111983 1 157772422 [A/G] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Nonsense_Q118X,Nonsense_Q118X,Nonsense_Q118X exm111984 1 157772443 [T/C] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_A111T,Missense_A111T,Missense_A111T exm111988 1 157773646 [A/T] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_I103K,Missense_I103K,Missense_I103K exm2273706 1 157773757 [A/C] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_S66I,Missense_S66I,Missense_S66I exm111995 1 157773880 [A/G] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_P25L,Missense_P25L,Missense_P25L rs6689427 1 157780892 [A/G] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 Silent,Silent,Silent exm112003 1 157789820 [A/G] NM_001159398,NM_052938,NM_001159397 FCRL1,FCRL1,FCRL1 EXON Missense_P3L,Missense_P3L,Missense_P3L rs12143912 1 157794774 [T/C] variant.7589 1 157801759 [T/C] NM_001347698,NM_005894 CD5L,CD5L Silent,Silent exm112012 1 157803051 [T/G] NM_001347698,NM_005894 CD5L,CD5L EXON Missense_Q324K,Missense_Q324K exm112014 1 157803101 [T/C] NM_001347698,NM_005894 CD5L,CD5L EXON Missense_R307H,Missense_R307H exm112016 1 157803108 [T/C] NM_001347698,NM_005894 CD5L,CD5L EXON Missense_V305I,Missense_V305I exm112025 1 157804260 [A/G] NM_001347698,NM_005894 CD5L,CD5L EXON Missense_P219S,Missense_P219S exm2277004 1 157804322 [A/C] NM_001347698,NM_005894 CD5L,CD5L EXON Missense_R198L,Missense_R198L rs2765501 1 157804648 [A/G] NM_001347698,NM_005894 CD5L,CD5L Silent,Silent exm112039 1 157805650 [T/A] NM_001347698,NM_005894 CD5L,CD5L EXON Missense_D117E,Missense_D117E rs11537583 1 157805650 [T/A] NM_001347698,NM_005894 CD5L,CD5L EXON Missense_D117E,Missense_D117E newrs142870154 1 157805673 [A/C] NM_001347698,NM_005894 CD5L,CD5L EXON Nonsense_E110X,Nonsense_E110X exm112041 1 157805673 [A/C] NM_001347698,NM_005894 CD5L,CD5L EXON Nonsense_E110X,Nonsense_E110X exm112046 1 157805825 [A/G] NM_001347698,NM_005894 CD5L,CD5L EXON Missense_A59V,Missense_A59V exm112054 1 157809185 [C/G] NM_001347698,NM_005894 CD5L,CD5L EXON Missense_P15R,Missense_P15R rs16839299 1 157825776 [T/C] rs11582594 1 157842192 [A/G] rs12074997 1 157842936 [T/G] rs7520880 1 157848162 [A/C] rs7524550 1 157864913 [A/G] rs11264845 1 157871097 [A/G] rs4450009 1 157879145 [T/C] rs7524095 1 157879294 [T/C] rs7514610 1 157891565 [T/C] rs6704322 1 157907476 [T/G] NR_135760 LOC105371458 Silent rs10494321 1 157908444 [A/G] NR_135760 LOC105371458 Silent rs1925035 1 157909525 [T/C] NR_135760 LOC105371458 Silent rs1925036 1 157910302 [A/G] NR_135760 LOC105371458 Silent rs753345 1 157927955 [T/C] rs1929843 1 157944945 [T/G] rs6696582 1 157947235 [A/C] rs7518837 1 157955130 [A/G] rs6698985 1 157975608 [A/G] NM_018240,NM_001286349 KIRREL1,KIRREL1 Silent,Silent rs12039337 1 157997084 [T/C] NM_018240,NM_001286349,NR_145471 KIRREL1,KIRREL1,KIRREL1-IT1 Silent,Silent,Silent rs1972216 1 158000740 [T/G] NM_018240,NM_001286349,NR_145471 KIRREL1,KIRREL1,KIRREL1-IT1 EXON Silent,Silent,Silent rs6688137 1 158008056 [A/G] NM_018240,NM_001286349 KIRREL1,KIRREL1 Silent,Silent rs6686246 1 158009712 [T/C] NM_018240,NM_001286349 KIRREL1,KIRREL1 Silent,Silent rs7527735 1 158023515 [A/G] NM_018240,NM_001286349 KIRREL1,KIRREL1 Silent,Silent rs7552600 1 158029021 [A/C] NM_018240,NM_001286349 KIRREL1,KIRREL1 Silent,Silent rs1886389 1 158036740 [T/C] NM_018240,NM_001286349 KIRREL1,KIRREL1 Silent,Silent rs7547764 1 158040193 [A/G] NM_018240,NM_001286349 KIRREL1,KIRREL1 Silent,Silent rs12033891 1 158043445 [A/G] NM_018240,NM_001286349 KIRREL1,KIRREL1 Silent,Silent rs11264900 1 158045749 [A/G] NM_018240,NM_001286349 KIRREL1,KIRREL1 Silent,Silent exm112060 1 158045912 [T/C] NM_018240,NM_001286349 KIRREL1,KIRREL1 EXON Missense_T21I,Silent exm112063 1 158045965 [A/G] NM_018240,NM_001286349 KIRREL1,KIRREL1 EXON Missense_V39M,Silent exm112067 1 158047810 [A/G] NM_018240,NM_001286349 KIRREL1,KIRREL1 EXON Missense_A78T,Silent exm112068 1 158047816 [A/G] NM_018240,NM_001286349 KIRREL1,KIRREL1 EXON Missense_A80T,Silent exm112070 1 158047909 [T/C] NM_018240,NM_001286349 KIRREL1,KIRREL1 EXON Missense_R111W,Silent rs11264902 1 158049646 [T/C] NM_018240,NM_001286349 KIRREL1,KIRREL1 Silent,Silent exm2268769 1 158049762 [T/C] NM_018240,NM_001286349 KIRREL1,KIRREL1 Silent,Silent rs6697006 1 158050627 [A/G] NM_018240,NM_001286349 KIRREL1,KIRREL1 Silent,Silent rs6695790 1 158052966 [T/G] NM_018240,NM_001286349 KIRREL1,KIRREL1 Silent,Silent rs11802995 1 158053024 [A/C] NM_018240,NM_001286349 KIRREL1,KIRREL1 Silent,Silent exm2263864 1 158058109 [A/C] NM_018240,NM_001286349 KIRREL1,KIRREL1 Silent,Silent rs6427419 1 158058109 [A/C] NM_018240,NM_001286349 KIRREL1,KIRREL1 Silent,Silent exm112102 1 158059417 [T/C] NM_018240,NM_001286349 KIRREL1,KIRREL1 EXON Synonymous_N390N,Synonymous_N290N exm112108 1 158061178 [A/G] NM_018240,NM_001286349 KIRREL1,KIRREL1 EXON Missense_V435M,Missense_V335M exm112120 1 158063551 [T/C] NM_018240,NM_001286349 KIRREL1,KIRREL1 EXON Missense_S573L,Missense_S473L exm2250031 1 158064111 [A/G] NM_018240,NM_001286349 KIRREL1,KIRREL1 EXON Synonymous_K576K,Synonymous_K476K exm112123 1 158064139 [A/C] NM_018240,NM_001286349 KIRREL1,KIRREL1 EXON Missense_R586S,Missense_R486S exm112135 1 158064530 [T/C] NM_018240,NM_001286349 KIRREL1,KIRREL1 EXON Missense_R632C,Missense_R532C exm112155 1 158064830 [A/C] NM_018240,NM_001286349 KIRREL1,KIRREL1 EXON Missense_T732P,Missense_T632P rs12088518 1 158073254 [T/G] rs1324659 1 158085565 [A/G] rs12071018 1 158087841 [T/C] rs12061698 1 158088687 [A/G] rs1998639 1 158089212 [T/C] rs10797003 1 158100580 [T/C] rs12042121 1 158109813 [T/C] NR_033946 LINC01704 Silent rs980937 1 158140205 [A/G] rs3087210 1 158146028 [A/G] exm112171 1 158151305 [C/G] NM_001319145,NM_001766 CD1D,CD1D EXON Missense_W41S,Missense_W41S exm112173 1 158151328 [T/C] NM_001319145,NM_001766 CD1D,CD1D EXON Missense_W49R,Missense_W49R exm112174 1 158151347 [T/C] NM_001319145,NM_001766 CD1D,CD1D EXON Missense_T55M,Missense_T55M exm112175 1 158151373 [A/T] NM_001319145,NM_001766 CD1D,CD1D EXON Missense_T64S,Missense_T64S exm112179 1 158151505 [T/G] NM_001319145,NM_001766 CD1D,CD1D EXON Missense_L108V,Missense_L108V exm112182 1 158151845 [T/G] NM_001319145,NM_001766 CD1D,CD1D EXON Missense_A118S,Missense_A118S newrs149673076 1 158151902 [T/C] NM_001319145,NM_001766 CD1D,CD1D EXON Nonsense_Q137X,Nonsense_Q137X exm1720657 1 158151902 [T/C] NM_001319145,NM_001766 CD1D,CD1D EXON Nonsense_Q137X,Nonsense_Q137X exm112195 1 158152716 [A/G] NM_001319145,NM_001766 CD1D,CD1D EXON Silent,Missense_R219H exm112205 1 158152910 [A/G] NM_001319145,NM_001766 CD1D,CD1D EXON Silent,Missense_S284G exm112209 1 158152941 [A/G] NM_001319145,NM_001766 CD1D,CD1D EXON Silent,Missense_Y294C rs692565 1 158153526 [T/C] NM_001319145,NM_001766 CD1D,CD1D Silent,Silent variant.7601 1 158153826 [A/G] NM_001319145,NM_001766 CD1D,CD1D Silent,Silent rs371380 1 158159393 [A/G] rs691175 1 158178492 [T/C] rs384414 1 158179236 [T/C] rs691314 1 158183942 [A/G] rs432611 1 158215299 [A/C] rs3181029 1 158219965 [T/C] NM_001320652 CD1A Silent exm112223 1 158224516 [T/C] NM_001320652,NM_001763 CD1A,CD1A EXON Silent,Synonymous_D19D rs411089 1 158224825 [T/C] NM_001320652,NM_001763 CD1A,CD1A Silent,Silent exm112226 1 158224904 [T/C] NM_001320652,NM_001763 CD1A,CD1A EXON Missense_T19I,Missense_T30I exm112227 1 158224908 [A/G] NM_001320652,NM_001763 CD1A,CD1A EXON Nonsense_W20X,Nonsense_W31X exm112228 1 158224912 [A/G] NM_001320652,NM_001763 CD1A,CD1A EXON Missense_A22T,Missense_A33T exm112233 1 158225019 [C/G] NM_001320652,NM_001763 CD1A,CD1A EXON Missense_C57W,Missense_C68W exm112235 1 158225050 [A/G] NM_001320652,NM_001763 CD1A,CD1A EXON Missense_E68K,Missense_E79K exm112237 1 158225083 [T/C] NM_001320652,NM_001763 CD1A,CD1A EXON Missense_R79C,Missense_R90C exm112244 1 158225119 [A/G] NM_001320652,NM_001763 CD1A,CD1A EXON Missense_A91T,Missense_A102T newrs187686385 1 158225142 [T/C] NM_001320652,NM_001763 CD1A,CD1A Silent,Silent variant.7604 1 158225808 [T/C] NM_001320652,NM_001763 CD1A,CD1A EXON Nonsense_Q103X,Nonsense_Q114X exm112253 1 158226022 [A/G] NM_001320652,NM_001763 CD1A,CD1A EXON Missense_R174H,Missense_R185H variant.7605 1 158226072 [T/G] NM_001320652,NM_001763 CD1A,CD1A EXON Missense_V191L,Missense_V202L exm112265 1 158226716 [T/C] NM_001320652,NM_001763 CD1A,CD1A EXON Nonsense_R238X,Nonsense_R249X exm112267 1 158226758 [T/C] NM_001320652,NM_001763 CD1A,CD1A EXON Missense_R252C,Missense_R263C exm112274 1 158226848 [T/C] NM_001320652,NM_001763 CD1A,CD1A EXON Missense_Y282H,Missense_Y293H exm112284 1 158227297 [T/C] NM_001320652,NM_001763 CD1A,CD1A EXON Missense_R313C,Missense_R324C rs10797006 1 158257838 [A/C] variant.7610 1 158260989 [T/C] NM_001765 CD1C EXON Nonsense_R43X exm112307 1 158261068 [A/G] NM_001765 CD1C EXON Missense_H69R exm112308 1 158261071 [A/C] NM_001765 CD1C EXON Missense_N70T exm112313 1 158261152 [A/G] NM_001765 CD1C EXON Missense_R97Q exm112314 1 158261185 [T/C] NM_001765 CD1C EXON Missense_S108L newrs115959450 1 158261888 [T/C] NM_001765 CD1C EXON Nonsense_Q115X exm112316 1 158261888 [T/C] NM_001765 CD1C EXON Nonsense_Q115X exm112317 1 158261898 [T/C] NM_001765 CD1C EXON Missense_A118V exm112329 1 158262413 [A/G] NM_001765 CD1C EXON Missense_R213H variant.7613 1 158262511 [T/C] NM_001765 CD1C EXON Nonsense_Q246X exm112336 1 158262544 [A/G] NM_001765 CD1C EXON Missense_N257D exm112339 1 158262619 [T/G] NM_001765 CD1C EXON Missense_V282L exm112342 1 158262623 [C/G] NM_001765 CD1C EXON Missense_R283T exm112345 1 158263011 [T/C] NM_001765 CD1C EXON Missense_F300S exm112347 1 158263062 [T/C] NM_001765 CD1C EXON Missense_I317T rs1923142 1 158267853 [T/C] rs1321646 1 158295009 [T/C] rs10797007 1 158295629 [A/G] exm1720754 1 158298712 [A/G] NM_001764 CD1B EXON Missense_R327W exm112365 1 158298714 [T/C] NM_001764 CD1B EXON Missense_R326H exm112386 1 158299307 [T/C] NM_001764 CD1B EXON Missense_G247S exm112392 1 158299688 [T/A] NM_001764 CD1B EXON Nonsense_Y187X exm112393 1 158299692 [T/C] NM_001764 CD1B EXON Missense_R186Q variant.7619 1 158299693 [A/G] NM_001764 CD1B EXON Nonsense_R186X exm112407 1 158300604 [T/C] NM_001764 CD1B EXON Missense_G104S exm112412 1 158300684 [T/C] NM_001764 CD1B EXON Missense_S77N exm1720764 1 158301161 [T/C] NM_001764 CD1B EXON Missense_S18N rs10158210 1 158311985 [A/G] exm112427 1 158323779 [A/G] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V,Missense_M1V exm112432 1 158324173 [A/G] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_Q22R,Silent,Silent,Missense_Q22R,Missense_Q22R,Silent,Missense_Q22R,Silent,Silent,Missense_Q22R,Silent,Missense_Q22R,Missense_Q22R exm112436 1 158324253 [A/G] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_S49G,Silent,Silent,Missense_S49G,Missense_S49G,Silent,Missense_S49G,Silent,Silent,Missense_S49G,Silent,Missense_S49G,Missense_S49G exm112437 1 158324262 [T/C] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_H52Y,Silent,Silent,Missense_H52Y,Missense_H52Y,Silent,Missense_H52Y,Silent,Silent,Missense_H52Y,Silent,Missense_H52Y,Missense_H52Y variant.7622 1 158324355 [T/G] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Nonsense_G83X,Silent,Silent,Nonsense_G83X,Nonsense_G83X,Silent,Nonsense_G83X,Silent,Silent,Nonsense_G83X,Silent,Nonsense_G83X,Nonsense_G83X exm112444 1 158324413 [A/G] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_H102R,Silent,Silent,Missense_H102R,Missense_H102R,Silent,Missense_H102R,Silent,Silent,Missense_H102R,Silent,Missense_H102R,Missense_H102R variant.7623 1 158324424 [T/C] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Nonsense_Q106X,Silent,Silent,Nonsense_Q106X,Nonsense_Q106X,Silent,Nonsense_Q106X,Silent,Silent,Nonsense_Q106X,Silent,Nonsense_Q106X,Nonsense_Q106X exm112445 1 158324425 [A/G] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_Q106R,Silent,Silent,Missense_Q106R,Missense_Q106R,Silent,Missense_Q106R,Silent,Silent,Missense_Q106R,Silent,Missense_Q106R,Missense_Q106R rs1065457 1 158324425 [A/G] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_Q106R,Silent,Silent,Missense_Q106R,Missense_Q106R,Silent,Missense_Q106R,Silent,Silent,Missense_Q106R,Silent,Missense_Q106R,Missense_Q106R indel.7624 1 158325146 [I/D] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON exm112452 1 158325180 [A/G] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_S149N,Silent,Silent,Silent,Silent,Missense_S50N,Silent,Silent,Silent,Missense_S149N,Silent,Missense_S149N,Missense_S149N exm112453 1 158325224 [T/C] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_R164W,Silent,Silent,Silent,Silent,Missense_R65W,Silent,Silent,Silent,Missense_R164W,Silent,Missense_R164W,Missense_R164W exm112456 1 158325318 [T/C] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_A195V,Silent,Silent,Silent,Silent,Missense_A96V,Silent,Silent,Silent,Missense_A195V,Silent,Missense_A195V,Missense_A195V variant.7626 1 158325364 [A/G] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm112480 1 158326335 [A/T] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_Y283F,Missense_T74S,Missense_T129S,Missense_T228S,Missense_T173S,Missense_T219S,Missense_T228S,Missense_T74S,Missense_Y94F,Missense_T318S,Missense_T129S,Missense_T263S,Missense_T318S exm1720795 1 158326349 [T/G] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_G288C,Missense_L78F,Missense_L133F,Missense_L232F,Missense_L177F,Missense_L223F,Missense_L232F,Missense_L78F,Missense_G99C,Missense_L322F,Missense_L133F,Missense_L267F,Missense_L322F indel.7629 1 158326369 [I/D] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON variant.7630 1 158326386 [T/G] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm112484 1 158326525 [A/C] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Missense_K92Q,Missense_K147Q,Missense_K246Q,Silent,Missense_K237Q,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K336Q exm112486 1 158326553 [A/G] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Missense_S101N,Missense_S156N,Missense_S255N,Silent,Missense_S246N,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S345N newrs180980445 1 158326553 [A/G] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Missense_S101N,Missense_S156N,Missense_S255N,Silent,Missense_S246N,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S345N indel.7632 1 158326627 [I/D] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON exm112490 1 158326645 [A/G] NM_001042584,NM_001185113,NM_001185112,NM_001185107,NM_001185108,NM_001185114,NM_001185115,NM_001185110,NM_001042587,NM_001042583,NM_001042586,NM_001042585,NM_030893 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Missense_V132I,Missense_V187I,Missense_V286I,Missense_V219I,Missense_V277I,Missense_V274I,Missense_V120I,Silent,Missense_V364I,Missense_V175I,Missense_V309I,Missense_V376I rs12742463 1 158330242 [A/G] rs10908648 1 158332459 [A/C] rs13376124 1 158338434 [A/G] rs11801558 1 158338906 [T/C] rs7547997 1 158341273 [A/G] rs12736117 1 158349097 [A/G] exm112498 1 158368321 [C/G] NM_001004475 OR10T2 EXON Missense_K312N exm112502 1 158368392 [T/C] NM_001004475 OR10T2 EXON Missense_V289I exm112516 1 158368679 [T/G] NM_001004475 OR10T2 EXON Missense_T193N exm112520 1 158368716 [C/G] NM_001004475 OR10T2 EXON Missense_D181H exm112521 1 158368754 [T/C] NM_001004475 OR10T2 EXON Missense_R168H exm112522 1 158368755 [A/G] NM_001004475 OR10T2 EXON Missense_R168C exm112524 1 158368794 [A/G] NM_001004475 OR10T2 EXON Missense_F155L exm112525 1 158368846 [T/C] NM_001004475 OR10T2 EXON Missense_I137M rs6662382 1 158368846 [T/C] NM_001004475 OR10T2 EXON Missense_I137M exm112528 1 158368917 [A/G] NM_001004475 OR10T2 EXON Missense_L114F exm112530 1 158368964 [T/C] NM_001004475 OR10T2 EXON Missense_C98Y exm112531 1 158368974 [A/G] NM_001004475 OR10T2 EXON Missense_F95L exm112534 1 158369025 [T/C] NM_001004475 OR10T2 EXON Missense_I78V exm112535 1 158369040 [A/G] NM_001004475 OR10T2 EXON Missense_C73R var_1_158369048 1 158369048 [I/D] NM_001004475 OR10T2 EXON exm112537 1 158369060 [A/G] NM_001004475 OR10T2 EXON Missense_I66T exm112538 1 158369061 [T/C] NM_001004475 OR10T2 EXON Missense_I66V exm112539 1 158369064 [A/G] NM_001004475 OR10T2 EXON Missense_F65L exm112543 1 158369105 [T/C] NM_001004475 OR10T2 EXON Missense_R51H exm112544 1 158369108 [A/G] NM_001004475 OR10T2 EXON Missense_I50T exm1720834 1 158369112 [T/C] NM_001004475 OR10T2 EXON Missense_V49I exm112546 1 158369129 [T/C] NM_001004475 OR10T2 EXON Missense_N43S exm112547 1 158369138 [A/G] NM_001004475 OR10T2 EXON Missense_L40P exm1720835 1 158369177 [A/G] NM_001004475 OR10T2 EXON Missense_L27P exm112554 1 158369210 [A/G] NM_001004475 OR10T2 EXON Missense_V16A rs17673153 1 158372524 [T/C] rs10489828 1 158377882 [T/C] rs4656283 1 158380828 [T/C] rs4656284 1 158381815 [A/G] rs10489829 1 158387196 [A/G] exm112561 1 158389793 [T/C] NM_001004476 OR10K2 EXON Missense_M288I indel.7635 1 158389834 [I/D] NM_001004476 OR10K2 EXON exm112566 1 158389863 [T/C] NM_001004476 OR10K2 EXON Missense_N265S exm112569 1 158389900 [T/C] NM_001004476 OR10K2 EXON Missense_G253S exm112572 1 158389993 [A/G] NM_001004476 OR10K2 EXON Missense_L222F exm112573 1 158390005 [A/G] NM_001004476 OR10K2 EXON Missense_Y218H exm112575 1 158390028 [C/G] NM_001004476 OR10K2 EXON Missense_P210R exm112576 1 158390035 [T/C] NM_001004476 OR10K2 EXON Missense_A208T exm112584 1 158390115 [A/G] NM_001004476 OR10K2 EXON Missense_I181T exm112585 1 158390119 [T/C] NM_001004476 OR10K2 EXON Missense_D180N exm112588 1 158390221 [A/C] NM_001004476 OR10K2 EXON Missense_A146S exm112590 1 158390229 [A/C] NM_001004476 OR10K2 EXON Missense_G143V exm112616 1 158390574 [A/G] NM_001004476 OR10K2 EXON Missense_F28S rs7519343 1 158403819 [T/C] rs6699757 1 158415517 [T/C] rs12127971 1 158425271 [A/C] exm112648 1 158435391 [A/G] NM_001004473 OR10K1 EXON Missense_V14I exm112650 1 158435406 [T/C] NM_001004473 OR10K1 EXON Missense_S19P exm112654 1 158435476 [A/G] NM_001004473 OR10K1 EXON Missense_N42S indel.7636 1 158435532 [I/D] NM_001004473 OR10K1 EXON exm112667 1 158435658 [T/C] NM_001004473 OR10K1 EXON Missense_S103P exm1720883 1 158435704 [T/C] NM_001004473 OR10K1 EXON Missense_M118T exm112668 1 158435716 [A/G] NM_001004473 OR10K1 EXON Missense_R122H exm112676 1 158435866 [A/G] NM_001004473 OR10K1 EXON Missense_N172S exm112679 1 158435928 [A/G] NM_001004473 OR10K1 EXON Missense_G193S exm112685 1 158436088 [T/C] NM_001004473 OR10K1 EXON Missense_I246T exm112690 1 158436128 [A/C] NM_001004473 OR10K1 EXON Nonsense_Y259X exm112703 1 158436280 [A/G] NM_001004473 OR10K1 EXON Missense_Y310C 1KG_1_158436285 1 158436285 [D/I] NM_001004473 OR10K1 EXON exm112711 1 158449749 [A/G] NM_001004472 OR10R2 EXON Missense_M28V exm112716 1 158449839 [A/G] NM_001004472 OR10R2 EXON Missense_I58V exm112718 1 158449854 [A/G] NM_001004472 OR10R2 EXON Missense_V63I exm112719 1 158449899 [T/C] NM_001004472 OR10R2 EXON Missense_P78S indel.7638 1 158450025 [D/I] NM_001004472 OR10R2 EXON exm112734 1 158450142 [T/C] NM_001004472 OR10R2 EXON Nonsense_Q159X exm112735 1 158450145 [A/G] NM_001004472 OR10R2 EXON Missense_V160M exm112741 1 158450238 [A/G] NM_001004472 OR10R2 EXON Missense_A191T exm112743 1 158450248 [T/A] NM_001004472 OR10R2 EXON Missense_V194D exm112747 1 158450314 [A/G] NM_001004472 OR10R2 EXON Missense_E216G exm112752 1 158450382 [T/C] NM_001004472 OR10R2 EXON Missense_L239F rs1418843 1 158450382 [T/C] NM_001004472 OR10R2 EXON Missense_L239F exm112754 1 158450412 [T/C] NM_001004472 OR10R2 EXON Missense_P249S exm112757 1 158450430 [T/C] NM_001004472 OR10R2 EXON Missense_R255W exm112761 1 158450451 [A/G] NM_001004472 OR10R2 EXON Missense_A262T exm112765 1 158450529 [A/T] NM_001004472 OR10R2 EXON Missense_S288T exm112766 1 158450547 [A/G] NM_001004472 OR10R2 EXON Missense_V294M exm112767 1 158450551 [T/C] NM_001004472 OR10R2 EXON Missense_T295M exm112769 1 158450563 [T/C] NM_001004472 OR10R2 EXON Missense_T299M rs1894040 1 158456336 [A/G] rs950488 1 158459975 [A/C] rs879635 1 158462908 [T/C] rs1342958 1 158468676 [T/G] exm2263837 1 158488899 [A/C] rs7548349 1 158493726 [T/C] rs6699473 1 158495209 [T/C] rs12121983 1 158510273 [T/C] exm112779 1 158516967 [A/G] NM_001005189 OR6Y1 EXON Missense_I310T exm2231538 1 158517158 [A/C] NM_001005189 OR6Y1 EXON Missense_C246W exm112790 1 158517181 [A/G] NM_001005189 OR6Y1 EXON Missense_R239C exm112792 1 158517226 [T/C] NM_001005189 OR6Y1 EXON Missense_A224T exm112794 1 158517259 [A/C] NM_001005189 OR6Y1 EXON Missense_A213S exm2231539 1 158517322 [T/C] NM_001005189 OR6Y1 EXON Missense_V192I exm112799 1 158517376 [A/G] NM_001005189 OR6Y1 EXON Missense_C174R exm112800 1 158517391 [T/C] NM_001005189 OR6Y1 EXON Missense_A169T indel.7640 1 158517401 [I/D] NM_001005189 OR6Y1 EXON exm112801 1 158517415 [A/C] NM_001005189 OR6Y1 EXON Missense_A161S exm112802 1 158517417 [A/G] NM_001005189 OR6Y1 EXON Missense_T160I exm112803 1 158517442 [T/C] NM_001005189 OR6Y1 EXON Missense_G152R exm112805 1 158517467 [G/C] NM_001005189 OR6Y1 EXON Missense_N143K exm112806 1 158517471 [A/G] NM_001005189 OR6Y1 EXON Missense_T142I exm112808 1 158517501 [T/C] NM_001005189 OR6Y1 EXON Missense_C132Y exm112810 1 158517517 [A/G] NM_001005189 OR6Y1 EXON Missense_R127C exm112811 1 158517543 [T/A] NM_001005189 OR6Y1 EXON Missense_I118N exm112812 1 158517558 [A/G] NM_001005189 OR6Y1 EXON Missense_V113A exm112813 1 158517561 [A/G] NM_001005189 OR6Y1 EXON Missense_F112S exm112815 1 158517585 [A/G] NM_001005189 OR6Y1 EXON Missense_T104I exm112816 1 158517591 [A/C] NM_001005189 OR6Y1 EXON Missense_C102F exm112819 1 158517675 [A/C] NM_001005189 OR6Y1 EXON Missense_L74R exm112822 1 158517706 [T/C] NM_001005189 OR6Y1 EXON Missense_M64V exm112823 1 158517763 [C/G] NM_001005189 OR6Y1 EXON Missense_L45V 1KG_1_158517832 1 158517832 [D/I] NM_001005189 OR6Y1 EXON exm112827 1 158517859 [T/C] NM_001005189 OR6Y1 EXON Missense_V13M exm112828 1 158517865 [A/G] NM_001005189 OR6Y1 EXON Missense_H11Y exm112830 1 158517891 [A/G] NM_001005189 OR6Y1 EXON Missense_T2I rs10908684 1 158523671 [T/G] exm112833 1 158532447 [A/C] NM_001160325 OR6P1 EXON Missense_Q316H exm112835 1 158532460 [A/G] NM_001160325 OR6P1 EXON Missense_P312L exm112839 1 158532597 [T/G] NM_001160325 OR6P1 EXON Nonsense_Y266X exm112840 1 158532605 [A/C] NM_001160325 OR6P1 EXON Missense_A264S exm112841 1 158532607 [T/C] NM_001160325 OR6P1 EXON Missense_R263Q exm112842 1 158532614 [A/G] NM_001160325 OR6P1 EXON Missense_R261W exm112844 1 158532694 [T/C] NM_001160325 OR6P1 EXON Missense_R234H exm112845 1 158532706 [A/G] NM_001160325 OR6P1 EXON Missense_T230M exm112846 1 158532727 [A/G] NM_001160325 OR6P1 EXON Missense_A223V exm112848 1 158532842 [A/G] NM_001160325 OR6P1 EXON Missense_L185F exm112850 1 158532908 [T/C] NM_001160325 OR6P1 EXON Missense_I163V exm112852 1 158532925 [T/A] NM_001160325 OR6P1 EXON Missense_M157K exm112857 1 158533111 [A/T] NM_001160325 OR6P1 EXON Missense_V95E indel.7643 1 158533121 [D/I] NM_001160325 OR6P1 EXON exm112861 1 158533171 [T/C] NM_001160325 OR6P1 EXON Missense_N75S exm112862 1 158533219 [A/C] NM_001160325 OR6P1 EXON Missense_M59R exm112864 1 158533248 [T/A] NM_001160325 OR6P1 EXON Synonymous_I49I exm2250036 1 158533248 [T/A] NM_001160325 OR6P1 EXON Synonymous_I49I indel.7644 1 158548802 [D/I] NM_001004477 OR10X1 EXON exm112875 1 158548803 [C/G] NM_001004477 OR10X1 EXON Missense_P296R exm112878 1 158548903 [T/C] NM_001004477 OR10X1 EXON Missense_V263M exm112882 1 158549011 [A/G] NM_001004477 OR10X1 EXON Missense_L227F exm1720940 1 158549043 [A/G] NM_001004477 OR10X1 EXON Missense_T216I exm112888 1 158549046 [A/G] NM_001004477 OR10X1 EXON Missense_I215T exm112893 1 158549106 [A/C] NM_001004477 OR10X1 EXON Missense_C195F exm112896 1 158549151 [A/C] NM_001004477 OR10X1 EXON Missense_F180C exm112897 1 158549152 [A/G] NM_001004477 OR10X1 EXON Missense_F180L exm112899 1 158549176 [A/G] NM_001004477 OR10X1 EXON Missense_S172P exm112906 1 158549277 [T/C] NM_001004477 OR10X1 EXON Missense_R138H exm112909 1 158549339 [T/C] NM_001004477 OR10X1 EXON Missense_M117I exm1720944 1 158549370 [G/C] NM_001004477 OR10X1 EXON Missense_S107T exm112914 1 158549421 [A/G] NM_001004477 OR10X1 EXON Missense_T90M exm112916 1 158549449 [A/C] NM_001004477 OR10X1 EXON Missense_A81S exm112919 1 158549492 [T/C] NM_001004477 OR10X1 EXON Nonsense_W66X rs863363 1 158549511 [A/G] NM_001004477 OR10X1 EXON Missense_I60T exm112921 1 158549511 [A/G] NM_001004477 OR10X1 EXON Missense_I60T exm112923 1 158549538 [T/C] NM_001004477 OR10X1 EXON Missense_Y51C exm112926 1 158549572 [A/G] NM_001004477 OR10X1 EXON Nonsense_Q40X exm112927 1 158549577 [T/C] NM_001004477 OR10X1 EXON Missense_H38R exm112928 1 158549595 [T/C] NM_001004477 OR10X1 EXON Missense_G32D rs2479861 1 158554142 [A/G] rs857707 1 158564383 [A/G] rs1332688 1 158565115 [T/G] variant.7649 1 158576298 [T/C] NM_001004478 OR10Z1 EXON Nonsense_Q24X exm112944 1 158576472 [T/C] NM_001004478 OR10Z1 EXON Missense_L82F variant.7651 1 158576526 [T/C] NM_001004478 OR10Z1 EXON Nonsense_Q100X exm112957 1 158576661 [A/G] NM_001004478 OR10Z1 EXON Missense_V145I exm112958 1 158576668 [T/C] NM_001004478 OR10Z1 EXON Missense_T147I exm112959 1 158576687 [A/C] NM_001004478 OR10Z1 EXON Nonsense_Y153X exm112961 1 158576712 [T/G] NM_001004478 OR10Z1 EXON Missense_V162F exm112962 1 158576757 [T/A] NM_001004478 OR10Z1 EXON Missense_F177I indel.7653 1 158576757 [I/D] NM_001004478 OR10Z1 EXON exm112964 1 158576809 [T/C] NM_001004478 OR10Z1 EXON Missense_P194L exm112967 1 158576919 [A/G] NM_001004478 OR10Z1 EXON Missense_A231T exm112970 1 158576934 [A/G] NM_001004478 OR10Z1 EXON Missense_K236E exm112973 1 158576973 [A/G] NM_001004478 OR10Z1 EXON Missense_I249V indel.7654 1 158576993 [D/I] NM_001004478 OR10Z1 EXON exm112975 1 158577109 [A/C] NM_001004478 OR10Z1 EXON Missense_N294T indel.7656 1 158577116 [I/D] NM_001004478 OR10Z1 EXON exm112976 1 158577120 [C/G] NM_001004478 OR10Z1 EXON Missense_Q298E variant.7657 1 158577165 [T/G] NM_001004478 OR10Z1 EXON Nonsense_G313X rs2479868 1 158580069 [T/C] exm112985 1 158581131 [A/G] NM_003126 SPTA1 EXON Missense_Y2395H rs1557615 1 158582084 [T/C] NM_003126 SPTA1 Silent exm112988 1 158582637 [A/C] NM_003126 SPTA1 EXON Missense_K2368N exm112991 1 158582673 [T/G] NM_003126 SPTA1 EXON Missense_E2356D exm112995 1 158583532 [T/A] NM_003126 SPTA1 EXON Missense_L2323Q exm112996 1 158583604 [A/C] NM_003126 SPTA1 EXON Missense_C2299F exm113002 1 158583650 [T/C] NM_003126 SPTA1 EXON Missense_D2284N exm113004 1 158584091 [A/G] NM_003126 SPTA1 EXON Missense_I2265T exm113014 1 158585122 [T/G] NM_003126 SPTA1 EXON Missense_E2224D exm113021 1 158587368 [T/C] NM_003126 SPTA1 EXON Missense_K2187E exm113027 1 158587844 [A/G] NM_003126 SPTA1 EXON Missense_A2178V exm113029 1 158589105 [T/C] NM_003126 SPTA1 EXON Missense_Q2146R exm113030 1 158589121 [A/G] NM_003126 SPTA1 EXON Missense_R2141W exm113031 1 158589991 [T/C] NM_003126 SPTA1 EXON Missense_R2129K exm113037 1 158590126 [T/G] NM_003126 SPTA1 EXON Missense_D2084A exm113041 1 158590241 [T/C] NM_003126 SPTA1 EXON Missense_V2046M exm113048 1 158592846 [T/C] NM_003126 SPTA1 EXON Missense_R2016H exm113049 1 158592847 [A/G] NM_003126 SPTA1 EXON Missense_R2016C exm113051 1 158592867 [T/C] NM_003126 SPTA1 EXON Missense_R2009H exm113056 1 158592901 [G/C] NM_003126 SPTA1 EXON Missense_A1998P exm113061 1 158592978 [T/G] NM_003126 SPTA1 EXON Missense_T1972N exm113063 1 158592982 [T/C] NM_003126 SPTA1 EXON Missense_D1971N variant.7658 1 158596629 [T/C] NM_003126 SPTA1 EXON Missense_A1945T exm113072 1 158596683 [T/C] NM_003126 SPTA1 EXON Missense_D1927N exm2250038 1 158596684 [A/G] NM_003126 SPTA1 EXON Synonymous_D1926D indel.7659 1 158596767 [D/I] NM_003126 SPTA1 EXON exm113075 1 158597458 [T/C] NM_003126 SPTA1 EXON Missense_R1874Q exm113082 1 158604391 [T/C] NM_003126 SPTA1 EXON Missense_N1836S rs16830483 1 158604391 [T/C] NM_003126 SPTA1 EXON Missense_N1836S variant.7660 1 158605704 [A/G] NM_003126 SPTA1 EXON Nonsense_R1811X exm2231546 1 158605725 [A/G] NM_003126 SPTA1 EXON Missense_L1804F exm113088 1 158605757 [T/C] NM_003126 SPTA1 EXON Missense_R1793Q rs3738791 1 158606449 [T/G] NM_003126 SPTA1 EXON Synonymous_A1764A rs857724 1 158607372 [T/C] NM_003126 SPTA1 Silent exm113112 1 158607931 [T/C] NM_003126 SPTA1 EXON Missense_R1694H exm113113 1 158607935 [T/G] NM_003126 SPTA1 EXON Missense_K1693Q indel.7661 1 158609385 [D/I] NM_003126 SPTA1 EXON exm113131 1 158612205 [T/A] NM_003126 SPTA1 EXON Missense_M1578K exm113132 1 158612227 [A/C] NM_003126 SPTA1 EXON Missense_C1571G exm113133 1 158612236 [A/G] NM_003126 SPTA1 EXON Missense_C1568R exm113134 1 158612244 [A/T] NM_003126 SPTA1 EXON Missense_L1565Q exm-rs857721 1 158612548 [A/T] NM_003126 SPTA1 Silent exm113142 1 158612618 [G/C] NM_003126 SPTA1 EXON Missense_A1531P exm113144 1 158612645 [T/C] NM_003126 SPTA1 EXON Missense_T1522A exm113148 1 158612719 [T/C] NM_003126 SPTA1 EXON Missense_G1497E exm113149 1 158612732 [A/G] NM_003126 SPTA1 EXON Missense_R1493W exm113151 1 158612756 [A/G] NM_003126 SPTA1 EXON Missense_L1485F exm113154 1 158613125 [A/G] NM_003126 SPTA1 EXON Missense_R1477C exm113157 1 158613136 [A/G] NM_003126 SPTA1 EXON Missense_T1473M variant.7663 1 158613217 [T/G] NM_003126 SPTA1 Silent indel.7665 1 158614045 [D/I] NM_003126 SPTA1 EXON exm113167 1 158614141 [A/G] NM_003126 SPTA1 EXON Missense_R1414C variant.7666 1 158614187 [T/C] NM_003126 SPTA1 Silent variant.7667 1 158615280 [T/C] NM_003126 SPTA1 Silent exm113174 1 158615292 [A/C] NM_003126 SPTA1 EXON Missense_R1330I exm113179 1 158615341 [A/G] NM_003126 SPTA1 EXON Missense_S1314P exm113180 1 158615349 [A/G] NM_003126 SPTA1 EXON Missense_M1311T exm113183 1 158617384 [A/G] NM_003126 SPTA1 EXON Missense_R1281C exm113184 1 158617386 [T/C] NM_003126 SPTA1 EXON Missense_D1280G exm113185 1 158617395 [T/C] NM_003126 SPTA1 EXON Missense_R1277H exm113186 1 158617396 [A/G] NM_003126 SPTA1 EXON Missense_R1277C exm113190 1 158617483 [A/G] NM_003126 SPTA1 EXON Missense_R1248W exm2250039 1 158618320 [A/G] NM_003126 SPTA1 EXON Synonymous_D1231D exm113197 1 158618391 [T/C] NM_003126 SPTA1 EXON Missense_A1208T exm113198 1 158618424 [C/G] NM_003126 SPTA1 EXON Missense_E1197Q exm113204 1 158619728 [A/C] NM_003126 SPTA1 EXON Missense_S1163A exm113206 1 158621197 [A/G] NM_003126 SPTA1 EXON Missense_F1146S exm113209 1 158621236 [G/C] NM_003126 SPTA1 EXON Missense_R1133P exm113210 1 158621245 [T/C] NM_003126 SPTA1 EXON Missense_N1130S exm113213 1 158622275 [G/C] NM_003126 SPTA1 EXON Missense_K1119N exm113217 1 158622402 [T/C] NM_003126 SPTA1 EXON Missense_R1077H exm113222 1 158623085 [A/C] NM_003126 SPTA1 EXON Missense_R1056L exm113223 1 158623092 [T/A] NM_003126 SPTA1 EXON Missense_T1054S exm113224 1 158623103 [A/G] NM_003126 SPTA1 EXON Missense_P1050L exm113228 1 158623179 [T/C] NM_003126 SPTA1 EXON Missense_I1025V exm113230 1 158623190 [A/T] NM_003126 SPTA1 EXON Missense_D1021V exm113235 1 158624528 [T/G] NM_003126 SPTA1 EXON Missense_A970D rs16840444 1 158625413 [A/G] NM_003126 SPTA1 Silent rs16840445 1 158625789 [T/C] NM_003126 SPTA1 Silent rs857691 1 158626378 [T/C] NM_003126 SPTA1 EXON Synonymous_L958L exm113239 1 158626382 [A/G] NM_003126 SPTA1 EXON Missense_A957V exm113245 1 158626440 [C/G] NM_003126 SPTA1 EXON Missense_L938V rs16840450 1 158627315 [T/C] NM_003126 SPTA1 EXON Synonymous_E919E exm113250 1 158627400 [T/C] NM_003126 SPTA1 EXON Missense_R891Q exm1721099 1 158627419 [A/G] NM_003126 SPTA1 EXON Missense_R885C exm113255 1 158627464 [T/C] NM_003126 SPTA1 EXON Missense_V870M exm113256 1 158627472 [T/G] NM_003126 SPTA1 EXON Missense_A867E exm113260 1 158631106 [G/C] NM_003126 SPTA1 EXON Missense_T853R exm113264 1 158631144 [C/G] NM_003126 SPTA1 EXON Missense_E840D exm113266 1 158631158 [T/C] NM_003126 SPTA1 EXON Missense_R836G exm113270 1 158632531 [T/C] NM_003126 SPTA1 EXON Missense_I809V exm113273 1 158632583 [T/G] NM_003126 SPTA1 EXON Missense_D791E exm113276 1 158632660 [T/C] NM_003126 SPTA1 EXON Missense_A766T exm113280 1 158636110 [T/C] NM_003126 SPTA1 EXON Missense_R739H exm113282 1 158636144 [T/C] NM_003126 SPTA1 EXON Missense_K728E exm113286 1 158636224 [T/C] NM_003126 SPTA1 EXON Missense_R701H exm2275503 1 158636225 [A/G] NM_003126 SPTA1 EXON Missense_R701C exm1721122 1 158637666 [C/G] NM_003126 SPTA1 EXON Missense_E674Q exm113292 1 158637704 [T/C] NM_003126 SPTA1 EXON Missense_R661H exm113293 1 158637728 [T/C] NM_003126 SPTA1 EXON Missense_Y653C exm113298 1 158639214 [T/C] NM_003126 SPTA1 EXON Missense_D606G exm113303 1 158639300 [A/C] NM_003126 SPTA1 EXON Missense_L577F exm113304 1 158639328 [T/C] NM_003126 SPTA1 EXON Missense_R568H exm113306 1 158639343 [T/C] NM_003126 SPTA1 EXON Missense_R563Q exm113308 1 158639501 [T/C] NM_003126 SPTA1 EXON Missense_G559R exm113309 1 158639504 [T/C] NM_003126 SPTA1 EXON Missense_D558N exm113314 1 158641134 [A/G] NM_003126 SPTA1 EXON Missense_I533T exm113321 1 158641242 [T/G] NM_003126 SPTA1 EXON Missense_A497D exm113322 1 158641243 [A/C] NM_003126 SPTA1 EXON Missense_A497S newrs74692803 1 158641844 [A/G] NM_003126 SPTA1 Silent indel.7671 1 158641929 [I/D] NM_003126 SPTA1 EXON exm113326 1 158641941 [C/G] NM_003126 SPTA1 EXON Missense_D466H exm113331 1 158644127 [A/G] NM_003126 SPTA1 EXON Missense_R448W exm113344 1 158644397 [T/C] NM_003126 SPTA1 EXON Missense_N394S exm113346 1 158645965 [A/T] NM_003126 SPTA1 EXON Missense_T360S exm113347 1 158645974 [A/C] NM_003126 SPTA1 EXON Missense_A357S variant.7672 1 158647479 [T/C] NM_003126 SPTA1 Silent rs703121 1 158647522 [A/G] NM_003126 SPTA1 EXON Synonymous_S305S exm113358 1 158647584 [T/G] NM_003126 SPTA1 EXON Missense_P285T exm113363 1 158648210 [T/C] NM_003126 SPTA1 EXON Missense_N265D newrs121918636 1 158648222 [A/G] NM_003126 SPTA1 EXON Missense_S261P newrs121918634 1 158648224 [A/G] NM_003126 SPTA1 EXON Missense_L260P exm113365 1 158648228 [T/C] NM_003126 SPTA1 EXON Missense_A259T exm113367 1 158648255 [A/G] NM_003126 SPTA1 EXON Missense_R250C exm113370 1 158648324 [T/C] NM_003126 SPTA1 EXON Missense_E227K variant.7675 1 158650372 [T/C] NM_003126 SPTA1 Silent exm1721153 1 158650431 [A/G] NM_003126 SPTA1 EXON Missense_L207P newrs121918643 1 158650431 [A/G] NM_003126 SPTA1 EXON Missense_L207P exm113379 1 158651394 [T/C] NM_003126 SPTA1 EXON Missense_D152N exm113380 1 158651396 [T/C] NM_003126 SPTA1 EXON Missense_G151D exm113385 1 158651438 [T/C] NM_003126 SPTA1 EXON Missense_R137H exm113386 1 158651447 [T/C] NM_003126 SPTA1 EXON Missense_E134G exm113387 1 158651457 [T/C] NM_003126 SPTA1 EXON Missense_A131T exm113389 1 158653178 [T/C] NM_003126 SPTA1 EXON Missense_A125T exm2231555 1 158653225 [A/G] NM_003126 SPTA1 EXON Missense_S109F exm113396 1 158654938 [A/G] NM_003126 SPTA1 EXON Missense_I75T variant.7679 1 158654984 [A/G] NM_003126 SPTA1 EXON Nonsense_R60X variant.7681 1 158655028 [T/C] NM_003126 SPTA1 EXON Missense_R45K exm113405 1 158655115 [T/A] NM_003126 SPTA1 EXON Missense_K16M exm113406 1 158655129 [G/C] NM_003126 SPTA1 EXON Missense_E11D exm113407 1 158655137 [A/C] NM_003126 SPTA1 EXON Missense_V9F variant.7684 1 158656284 [T/G] NM_003126 SPTA1 EXON Synonymous_T8T rs857940 1 158656973 [T/C] rs2023405 1 158662926 [A/C] exm2231556 1 158669524 [T/C] NM_001005279 OR6K2 EXON Missense_G307S variant.7686 1 158669631 [T/C] NM_001005279 OR6K2 EXON Nonsense_W271X exm1721166 1 158669644 [A/G] NM_001005279 OR6K2 EXON Missense_Y267H exm113427 1 158669694 [A/G] NM_001005279 OR6K2 EXON Missense_S250L exm113428 1 158669701 [A/C] NM_001005279 OR6K2 EXON Missense_V248F exm113431 1 158669737 [A/G] NM_001005279 OR6K2 EXON Missense_R236C exm113432 1 158669740 [A/G] NM_001005279 OR6K2 EXON Missense_R235C exm2273707 1 158669746 [T/C] NM_001005279 OR6K2 EXON Missense_G233R indel.7687 1 158669771 [I/D] NM_001005279 OR6K2 EXON exm113440 1 158669772 [C/G] NM_001005279 OR6K2 EXON Missense_A224G exm113442 1 158669782 [T/C] NM_001005279 OR6K2 EXON Missense_G221S exm113446 1 158669799 [T/A] NM_001005279 OR6K2 EXON Missense_I215N exm113449 1 158669851 [T/G] NM_001005279 OR6K2 EXON Missense_Q198K exm113456 1 158669968 [A/T] NM_001005279 OR6K2 EXON Missense_I159F exm2275504 1 158669974 [A/G] NM_001005279 OR6K2 EXON Missense_P157S exm113457 1 158669977 [C/G] NM_001005279 OR6K2 EXON Missense_L156V exm113458 1 158669980 [A/G] NM_001005279 OR6K2 EXON Missense_P155S exm113460 1 158670025 [A/G] NM_001005279 OR6K2 EXON Missense_C140R exm113462 1 158670064 [T/C] NM_001005279 OR6K2 EXON Missense_S127G exm113467 1 158670195 [A/G] NM_001005279 OR6K2 EXON Missense_S83F exm113471 1 158670285 [G/C] NM_001005279 OR6K2 EXON Missense_T53S exm113475 1 158670339 [T/C] NM_001005279 OR6K2 EXON Missense_Y35C exm2275505 1 158670382 [A/G] NM_001005279 OR6K2 EXON Missense_W21R exm1721176 1 158670397 [T/C] NM_001005279 OR6K2 EXON Missense_A16T exm113477 1 158670426 [T/C] NM_001005279 OR6K2 EXON Missense_R6Q exm113478 1 158670429 [T/C] NM_001005279 OR6K2 EXON Missense_N5S rs451851 1 158685036 [A/G] exm113480 1 158686980 [A/G] NM_001005327 OR6K3 EXON Missense_V309A exm113481 1 158686996 [A/G] NM_001005327 OR6K3 EXON Missense_F304L exm113488 1 158687112 [T/A] NM_001005327 OR6K3 EXON Missense_Y265F exm113490 1 158687119 [T/C] NM_001005327 OR6K3 EXON Missense_D263N exm113495 1 158687136 [A/C] NM_001005327 OR6K3 EXON Missense_M257R newrs79482939 1 158687142 [T/G] NM_001005327 OR6K3 EXON Nonsense_S255X exm113498 1 158687163 [A/G] NM_001005327 OR6K3 EXON Missense_P248L exm113499 1 158687171 [T/C] NM_001005327 OR6K3 EXON Missense_M245I exm113501 1 158687224 [A/G] NM_001005327 OR6K3 EXON Missense_P228S rs857703 1 158687224 [A/G] NM_001005327 OR6K3 EXON Missense_P228S variant.7694 1 158687255 [A/C] NM_001005327 OR6K3 EXON Nonsense_Y217X exm113504 1 158687308 [T/C] NM_001005327 OR6K3 EXON Missense_V200M exm113507 1 158687451 [T/C] NM_001005327 OR6K3 EXON Missense_G152D newrs140925198 1 158687580 [I/D] NM_001005327 OR6K3 EXON exm113522 1 158687619 [G/C] NM_001005327 OR6K3 EXON Missense_G96A exm113527 1 158687796 [A/C] NM_001005327 OR6K3 EXON Missense_F37C exm2231557 1 158687821 [A/G] NM_001005327 OR6K3 EXON Missense_F29L exm113532 1 158687836 [T/C] NM_001005327 OR6K3 EXON Missense_S24G rs857705 1 158687896 [T/C] NM_001005327 OR6K3 EXON Missense_G4R exm113534 1 158687896 [T/C] NM_001005327 OR6K3 EXON Missense_G4R rs703145 1 158694730 [T/C] rs1429854 1 158704144 [A/G] rs12076675 1 158704573 [A/G] rs2435282 1 158707690 [A/G] rs375227 1 158720817 [A/G] rs12085542 1 158724073 [T/C] exm113544 1 158724634 [A/G] NM_001005184 OR6K6 EXON Missense_H10R exm113545 1 158724650 [T/A] NM_001005184 OR6K6 EXON Missense_S15R indel.7698 1 158724671 [I/D] NM_001005184 OR6K6 EXON exm113553 1 158724750 [T/C] NM_001005184 OR6K6 EXON Missense_H49Y exm1721213 1 158724790 [T/C] NM_001005184 OR6K6 EXON Missense_I62T exm113555 1 158724811 [A/G] NM_001005184 OR6K6 EXON Missense_G69E exm113556 1 158724844 [A/G] NM_001005184 OR6K6 EXON Missense_G80D exm113557 1 158724852 [G/C] NM_001005184 OR6K6 EXON Missense_L83V variant.7699 1 158724987 [T/C] NM_001005184 OR6K6 EXON Nonsense_Q128X exm113564 1 158724988 [A/G] NM_001005184 OR6K6 EXON Missense_Q128R exm113565 1 158725006 [T/C] NM_001005184 OR6K6 EXON Missense_S134L exm113568 1 158725059 [A/G] NM_001005184 OR6K6 EXON Missense_I152V exm113570 1 158725080 [T/C] NM_001005184 OR6K6 EXON Missense_R159C variant.7700 1 158725116 [T/C] NM_001005184 OR6K6 EXON Nonsense_Q171X exm113579 1 158725194 [T/C] NM_001005184 OR6K6 EXON Missense_C197R exm113580 1 158725237 [T/C] NM_001005184 OR6K6 EXON Missense_P211L exm113590 1 158725345 [A/G] NM_001005184 OR6K6 EXON Missense_R247Q exm113591 1 158725348 [T/A] NM_001005184 OR6K6 EXON Missense_I248N exm113593 1 158725387 [A/G] NM_001005184 OR6K6 EXON Missense_H261R exm113598 1 158725419 [T/C] NM_001005184 OR6K6 EXON Missense_L272F exm1721217 1 158725504 [T/C] NM_001005184 OR6K6 EXON Missense_A300V exm113606 1 158725564 [A/G] NM_001005184 OR6K6 EXON Missense_K320R rs6680399 1 158729346 [A/G] rs11810781 1 158729713 [T/C] rs857819 1 158734560 [T/C] exm113613 1 158735595 [T/C] NM_001005185 OR6N1 EXON Missense_R293H exm113616 1 158735662 [T/C] NM_001005185 OR6N1 EXON Missense_D271N exm113618 1 158735691 [T/C] NM_001005185 OR6N1 EXON Missense_Q261R rs857825 1 158735691 [T/C] NM_001005185 OR6N1 EXON Missense_Q261R exm113622 1 158735740 [A/G] NM_001005185 OR6N1 EXON Missense_F245L exm113629 1 158735892 [A/G] NM_001005185 OR6N1 EXON Missense_I194T exm113631 1 158735905 [T/G] NM_001005185 OR6N1 EXON Missense_T190P exm113634 1 158735956 [A/G] NM_001005185 OR6N1 EXON Missense_R173C exm113635 1 158735967 [T/C] NM_001005185 OR6N1 EXON Missense_C169Y exm113639 1 158736064 [T/C] NM_001005185 OR6N1 EXON Missense_T137A exm113647 1 158736135 [T/C] NM_001005185 OR6N1 EXON Missense_Y113C exm113650 1 158736201 [A/G] NM_001005185 OR6N1 EXON Missense_T91I exm113658 1 158736342 [A/G] NM_001005185 OR6N1 EXON Missense_L44P exm113661 1 158736388 [A/G] NM_001005185 OR6N1 EXON Missense_L29F rs1864346 1 158736445 [T/C] NM_001005185 OR6N1 EXON Missense_A10T exm113663 1 158736445 [T/C] NM_001005185 OR6N1 EXON Missense_A10T rs6427448 1 158739691 [T/C] rs1864348 1 158741091 [T/C] rs2518524 1 158746336 [T/C] exm113674 1 158746606 [C/G] NM_001005278 OR6N2 EXON Missense_L274V exm113675 1 158746612 [A/G] NM_001005278 OR6N2 EXON Nonsense_R272X exm113678 1 158746678 [T/C] NM_001005278 OR6N2 EXON Missense_I250V exm113685 1 158746797 [T/G] NM_001005278 OR6N2 EXON Missense_T210N exm113686 1 158746815 [A/G] NM_001005278 OR6N2 EXON Missense_A204V exm1721242 1 158746830 [A/T] NM_001005278 OR6N2 EXON Missense_D199V variant.7703 1 158746933 [A/G] NM_001005278 OR6N2 EXON Nonsense_Q165X indel.7704 1 158746952 [D/I] NM_001005278 OR6N2 EXON exm113697 1 158747043 [G/C] NM_001005278 OR6N2 EXON Missense_R128P exm113701 1 158747100 [A/G] NM_001005278 OR6N2 EXON Missense_A109V exm113704 1 158747137 [A/G] NM_001005278 OR6N2 EXON Missense_C97R exm1721244 1 158747151 [A/C] NM_001005278 OR6N2 EXON Missense_I92S variant.7707 1 158747278 [A/G] NM_001005278 OR6N2 EXON Nonsense_R50X exm113710 1 158747296 [A/G] NM_001005278 OR6N2 EXON Missense_L44F rs857838 1 158750550 [A/C] rs857847 1 158754813 [A/G] rs919477 1 158772845 [T/C] rs16841134 1 158784017 [T/C] rs857788 1 158785137 [A/G] rs857791 1 158788997 [T/G] rs7513873 1 158803873 [A/G] NM_002432 MNDA Silent rs857869 1 158810312 [T/C] NM_002432 MNDA Silent exm113728 1 158812064 [C/G] NM_002432 MNDA EXON Missense_E41Q exm113730 1 158812091 [G/C] NM_002432 MNDA EXON Missense_D50H variant.7708 1 158812190 [T/C] NM_002432 MNDA EXON Nonsense_R83X exm113737 1 158813078 [T/A] NM_002432 MNDA EXON Missense_K92I exm113738 1 158813081 [T/C] NM_002432 MNDA EXON Missense_I93T exm113744 1 158813810 [T/A] NM_002432 MNDA EXON Missense_S156R exm113748 1 158813875 [T/C] NM_002432 MNDA EXON Missense_T178I indel.7710 1 158813908 [D/I] NM_002432 MNDA EXON exm113752 1 158813911 [T/C] NM_002432 MNDA EXON Missense_P190L exm113753 1 158813912 [A/G] NM_002432 MNDA EXON Synonymous_P190P rs860781 1 158814834 [T/C] NM_002432 MNDA Silent exm113756 1 158815405 [T/G] NM_002432 MNDA EXON Missense_V200G exm113758 1 158815410 [A/G] NM_002432 MNDA EXON Missense_A202T indel.7712 1 158815534 [I/D] NM_002432 MNDA EXON exm113763 1 158815546 [T/C] NM_002432 MNDA EXON Missense_F247S exm113764 1 158815580 [T/G] NM_002432 MNDA EXON Missense_E258D variant.7714 1 158815788 [T/C] NM_002432 MNDA EXON Nonsense_Q328X rs2188112 1 158816589 [T/C] NM_002432 MNDA Silent indel.7715 1 158817535 [D/I] NM_002432 MNDA EXON exm113789 1 158817597 [A/G] NM_002432 MNDA EXON Nonsense_W356X exm113790 1 158817599 [T/C] NM_002432 MNDA EXON Missense_H357Y indel.7717 1 158817615 [I/D] NM_002432 MNDA EXON exm1721286 1 158817618 [A/T] NM_002432 MNDA EXON Missense_K363I variant.7718 1 158817632 [T/C] NM_002432 MNDA EXON Nonsense_R368X exm113794 1 158817666 [A/G] NM_002432 MNDA EXON Missense_R379H variant.7719 1 158817680 [T/G] NM_002432 MNDA EXON Missense_V384L variant.7720 1 158817684 [T/G] NM_002432 MNDA EXON Missense_C385F indel.7721 1 158817686 [D/I] NM_002432 MNDA EXON exm113801 1 158819011 [T/C] NM_002432 MNDA EXON Missense_P403L rs2188114 1 158833750 [T/G] rs2852707 1 158841260 [T/C] rs2518510 1 158842020 [T/C] rs2494034 1 158842453 [A/G] rs2852657 1 158847720 [T/C] rs16841260 1 158855554 [T/C] rs12088342 1 158871453 [T/G] rs12569226 1 158875409 [A/G] rs2518544 1 158876921 [A/G] rs856099 1 158891391 [T/C] rs856119 1 158899747 [A/C] rs16841336 1 158901127 [T/C] exm113805 1 158906777 [A/G] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_K26R,Missense_K26R,Missense_K26R,Missense_K26R exm113806 1 158906824 [A/G] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_E42K,Missense_E42K,Missense_E42K,Missense_E42K indel.7723 1 158906883 [I/D] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON variant.7725 1 158906970 [T/C] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 Silent,Silent,Silent,Silent exm113811 1 158908213 [A/G] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Silent,Missense_V98I,Silent,Missense_V98I exm113817 1 158908881 [A/C] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_K132N,Missense_K141N,Missense_K132N,Missense_K141N exm113818 1 158908886 [T/C] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_S134F,Missense_S143F,Missense_S134F,Missense_S143F exm113823 1 158908970 [T/C] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_T162I,Missense_T171I,Missense_T162I,Missense_T171I exm113831 1 158911789 [A/G] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_R192H,Missense_R201H,Missense_R192H,Missense_R201H exm113832 1 158911792 [A/G] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_H193R,Missense_H202R,Missense_H193R,Missense_H202R exm113834 1 158911818 [T/C] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Nonsense_R202X,Nonsense_R211X,Nonsense_R202X,Nonsense_R211X newrs144716673 1 158911818 [T/C] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Nonsense_R202X,Nonsense_R211X,Nonsense_R202X,Nonsense_R211X exm113835 1 158911819 [A/G] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_R202Q,Missense_R211Q,Missense_R202Q,Missense_R211Q exm113837 1 158911921 [A/C] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_T236K,Missense_T245K,Missense_T236K,Missense_T245K exm113839 1 158911988 [T/A] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_R258S,Missense_R267S,Missense_R258S,Missense_R267S newrs150672460 1 158912073 [T/C] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Nonsense_Q287X,Nonsense_Q296X,Nonsense_Q287X,Nonsense_Q296X indel.7731 1 158913618 [D/I] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON exm113850 1 158913694 [T/C] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Nonsense_R364X,Nonsense_R373X,Nonsense_R364X,Nonsense_R373X variant.7733 1 158913709 [T/C] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Nonsense_R369X,Nonsense_R378X,Nonsense_R369X,Nonsense_R378X exm113853 1 158913731 [T/C] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_M376T,Missense_M385T,Missense_M376T,Missense_M385T rs856090 1 158922287 [T/C] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 Silent,Silent,Silent,Silent rs1101999 1 158932555 [T/C] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 Silent,Silent,Silent,Silent rs1633292 1 158941219 [T/C] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 Silent,Silent,Silent,Silent rs10908697 1 158941634 [A/G] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 Silent,Silent,Silent,Silent exm113857 1 158943464 [T/C] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_S454P,Silent,Silent,Missense_S463P exm2231566 1 158943468 [T/C] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_S455L,Silent,Silent,Missense_S464L exm113859 1 158943483 [A/G] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_R460K,Silent,Silent,Missense_R469K exm113864 1 158943539 [T/C] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_H479Y,Silent,Silent,Missense_H488Y rs1615480 1 158944584 [T/C] NM_198928,NM_198929,NM_198930,NM_152501 PYHIN1,PYHIN1,PYHIN1,PYHIN1 Silent,Silent,Silent,Silent rs1361567 1 158956412 [A/G] rs856142 1 158957703 [T/C] rs856146 1 158959450 [T/C] rs856076 1 158967046 [T/C] rs9887904 1 158978596 [A/C] NM_001364867 IFI16 Silent exm2231567 1 158979950 [A/G] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Silent,Silent,Silent rs856064 1 158983285 [T/C] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 Silent,Silent,Silent indel.7736 1 158984653 [I/D] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON rs1361565 1 158985135 [A/G] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 Silent,Silent,Silent exm113884 1 158985673 [A/G] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_A93T,Missense_A93T,Missense_A93T exm113886 1 158985706 [A/G] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_A104T,Missense_A104T,Missense_A104T indel.7737 1 158986327 [I/D] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON exm1721428 1 158986350 [C/G] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_A137P,Missense_A137P,Silent exm113897 1 158986477 [G/C] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_S179T,Missense_S179T,Silent rs856046 1 158987941 [A/G] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 Silent,Silent,Silent exm113908 1 158988319 [T/C] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_P284S,Missense_P284S,Missense_P228S exm113909 1 158988329 [T/C] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_T287M,Missense_T287M,Missense_T231M exm113912 1 158988413 [T/C] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_I315T,Missense_I315T,Missense_I259T exm113916 1 158990148 [T/G] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_K330N,Missense_K330N,Missense_K274N rs1101993 1 158996895 [A/G] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 Silent,Silent,Silent rs12094741 1 158998665 [A/G] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 Silent,Silent,Silent indel.7739 1 159002364 [D/I] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON rs1057027 1 159002377 [A/C] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_R409S,Missense_R409S,Missense_R353S exm113927 1 159002377 [A/C] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_R409S,Missense_R409S,Missense_R353S exm113928 1 159002389 [T/A] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_Y413N,Missense_Y413N,Missense_Y357N exm113929 1 159002410 [A/G] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_T420A,Missense_T420A,Missense_T364A exm-rs1772408 1 159005649 [A/G] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 Silent,Silent,Silent rs1633266 1 159005977 [T/C] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 Silent,Silent,Silent rs3754460 1 159006846 [T/C] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 Silent,Silent,Silent exm113937 1 159015250 [T/C] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_T498I,Silent,Missense_T442I rs3018316 1 159017958 [T/G] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 Silent,Silent,Silent exm113943 1 159021506 [T/C] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_S568F,Missense_S512F,Missense_S512F exm113949 1 159021617 [T/C] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_A605V,Missense_A549V,Missense_A549V exm113952 1 159021719 [A/G] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_N639S,Missense_N583S,Missense_N583S exm113955 1 159021815 [T/G] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_V671G,Missense_V615G,Missense_V615G exm113956 1 159021839 [A/G] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_C679Y,Missense_C623Y,Missense_C623Y exm113964 1 159023422 [A/G] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_E729K,Missense_E673K,Missense_E673K exm113967 1 159023482 [A/G] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_E749K,Missense_E693K,Missense_E693K exm2231571 1 159023509 [A/C] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_I758L,Missense_I702L,Missense_I702L exm113971 1 159024654 [A/G] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_D774G,Missense_D718G,Missense_D718G exm113973 1 159024668 [A/T] NM_001364867,NM_005531,NM_001206567 IFI16,IFI16,IFI16 EXON Missense_T779S,Missense_T723S,Missense_T723S rs855865 1 159028378 [T/C] exm113976 1 159032484 [A/C] NM_001348247,NM_004833 AIM2,AIM2 EXON Missense_X239E,Missense_X344E newrs145420527 1 159033350 [A/G] NM_001348247,NM_004833 AIM2,AIM2 EXON Nonsense_R206X,Nonsense_R311X indel.7742 1 159033440 [I/D] NM_001348247,NM_004833 AIM2,AIM2 EXON exm113984 1 159033443 [T/C] NM_001348247,NM_004833 AIM2,AIM2 EXON Missense_I175V,Missense_I280V indel.7743 1 159035879 [I/D] NM_001348247,NM_004833 AIM2,AIM2 EXON exm113997 1 159035958 [T/G] NM_001348247,NM_004833 AIM2,AIM2 EXON Missense_E81D,Missense_E186D exm2273708 1 159038375 [A/C] NM_001348247,NM_004833 AIM2,AIM2 EXON Missense_V22F,Missense_V127F exm114004 1 159038378 [T/C] NM_001348247,NM_004833 AIM2,AIM2 EXON Missense_K21E,Missense_K126E indel.7744 1 159043022 [I/D] NM_001348247,NM_004833 AIM2,AIM2 exm114016 1 159043196 [T/C] NM_001348247,NM_004833 AIM2,AIM2 EXON Silent,Missense_E32K exm1721480 1 159043229 [T/C] NM_001348247,NM_004833 AIM2,AIM2 EXON Silent,Missense_E21K rs1894043 1 159069211 [T/C] rs16841691 1 159080243 [T/C] rs2852727 1 159086986 [A/G] rs12130875 1 159093732 [A/C] rs2814779 1 159098713 [A/G] rs863035 1 159116681 [T/C] rs3026935 1 159117690 [T/C] rs2814774 1 159135353 [T/C] exm-rs1474747 1 159148513 [T/C] NM_021189,NM_001127173,NM_001346510 CADM3,CADM3,CADM3 Silent,Silent,Silent rs2852714 1 159149515 [A/G] NM_021189,NM_001127173,NM_001346510 CADM3,CADM3,CADM3 Silent,Silent,Silent rs2852716 1 159153480 [A/G] NM_021189,NM_001127173,NM_001346510 CADM3,CADM3,CADM3 Silent,Silent,Silent rs2281300 1 159156285 [T/C] NM_021189,NM_001127173,NM_001346510 CADM3,CADM3,CADM3 Silent,Silent,Silent exm114027 1 159159620 [A/C] NM_021189,NM_001127173,NM_001346510 CADM3,CADM3,CADM3 EXON Missense_S50R,Silent,Silent exm1721512 1 159159647 [A/G] NM_021189,NM_001127173,NM_001346510 CADM3,CADM3,CADM3 EXON Missense_M59V,Silent,Silent exm2264908 1 159160880 [A/G] NM_021189,NM_001127173,NM_001346510 CADM3,CADM3,CADM3 Silent,Silent,Silent variant.7747 1 159162520 [A/G] NM_021189,NM_001127173,NM_001346510 CADM3,CADM3,CADM3 EXON Missense_G162R,Missense_G128R,Missense_G128R exm114044 1 159163314 [T/C] NM_021189,NM_001127173,NM_001346510 CADM3,CADM3,CADM3 EXON Missense_R196W,Missense_R162W,Missense_R162W exm114046 1 159163349 [T/C] NM_021189,NM_001127173,NM_001346510 CADM3,CADM3,CADM3 EXON Synonymous_H207H,Synonymous_H173H,Synonymous_H173H rs862991 1 159164364 [A/G] NM_021189,NM_001127173,NM_001346510 CADM3,CADM3,CADM3 Silent,Silent,Silent rs2814755 1 159165610 [T/C] NM_021189,NM_001127173,NM_001346510 CADM3,CADM3,CADM3 Silent,Silent,Silent exm114053 1 159166182 [A/C] NM_021189,NM_001127173,NM_001346510,NR_037870 CADM3,CADM3,CADM3,CADM3-AS1 EXON Missense_D274E,Missense_D240E,Missense_D194E,Silent exm114056 1 159166681 [A/C] NM_021189,NM_001127173,NM_001346510,NR_037870 CADM3,CADM3,CADM3,CADM3-AS1 EXON Synonymous_V295V,Synonymous_V261V,Synonymous_V215V,Silent rs3027009 1 159173887 [A/G] NM_002036 ACKR1 EXON Silent exm114085 1 159175354 [A/G] NM_002036,NM_001122951 ACKR1,ACKR1 EXON Missense_G42D,Missense_G44D exm114087 1 159175375 [T/C] NM_002036,NM_001122951 ACKR1,ACKR1 EXON Missense_A49V,Missense_A51V exm114089 1 159175428 [T/C] NM_002036,NM_001122951 ACKR1,ACKR1 EXON Missense_L67F,Missense_L69F exm114098 1 159175494 [T/C] NM_002036,NM_001122951 ACKR1,ACKR1 EXON Missense_R89C,Missense_R91C exm114101 1 159175527 [A/G] NM_002036,NM_001122951 ACKR1,ACKR1 EXON Missense_A100T,Missense_A102T exm114109 1 159175684 [T/C] NM_002036,NM_001122951 ACKR1,ACKR1 EXON Missense_S152F,Missense_S154F exm114114 1 159175884 [A/G] NM_002036,NM_001122951 ACKR1,ACKR1 EXON Missense_V219I,Missense_V221I exm114120 1 159176166 [T/C] NM_002036,NM_001122951 ACKR1,ACKR1 EXON Missense_R313C,Missense_R315C variant.7751 1 159176203 [A/G] NM_002036,NM_001122951 ACKR1,ACKR1 EXON Nonsense_W325X,Nonsense_W327X exm114129 1 159176206 [T/C] NM_002036,NM_001122951 ACKR1,ACKR1 EXON Missense_S326F,Missense_S328F rs3027051 1 159184306 [A/C] rs11265144 1 159184914 [T/C] rs3027056 1 159186231 [A/G] exm-rs10489849 1 159196765 [T/C] rs10489849 1 159196765 [T/C] rs863013 1 159200020 [T/G] rs12072644 1 159215287 [T/C] rs16841937 1 159217581 [T/C] rs3845624 1 159218266 [A/C] rs10908702 1 159228378 [T/C] rs2325927 1 159236439 [T/C] rs2511212 1 159244893 [T/C] rs10489853 1 159248815 [T/C] rs2247584 1 159259680 [T/G] NM_002001 FCER1A Silent rs7548864 1 159267255 [A/G] NM_002001 FCER1A Silent exm-rs2251746 1 159272060 [T/C] NM_002001 FCER1A Silent indel.7752 1 159272174 [D/I] NM_002001 FCER1A EXON exm114133 1 159272209 [A/G] NM_002001 FCER1A EXON Missense_A19T variant.7753 1 159272642 [A/G] NM_002001 FCER1A Silent rs12119226 1 159272764 [T/C] NM_002001 FCER1A Silent exm114143 1 159273892 [A/G] NM_002001 FCER1A EXON Missense_K84R exm114144 1 159273943 [A/G] NM_002001 FCER1A EXON Missense_S101N exm114148 1 159275786 [G/C] NM_002001 FCER1A EXON Missense_L114V exm114153 1 159275976 [T/C] NM_002001 FCER1A EXON Missense_T177M rs2252226 1 159276153 [T/C] NM_002001 FCER1A Silent exm114158 1 159277559 [T/C] NM_002001 FCER1A EXON Missense_L204P exm114164 1 159277672 [T/G] NM_002001 FCER1A EXON Missense_G242C exm114165 1 159277673 [C/G] NM_002001 FCER1A EXON Missense_G242A exm114166 1 159277682 [T/A] NM_002001 FCER1A EXON Missense_L245H exm114168 1 159277689 [A/C] NM_002001 FCER1A EXON Missense_N247K exm114171 1 159277709 [T/C] NM_002001 FCER1A EXON Missense_P254L rs7549785 1 159277868 [A/G] NM_002001 FCER1A EXON Silent exm-rs2494250 1 159278251 [C/G] rs16842016 1 159280924 [A/G] exm114172 1 159283467 [A/G] NM_001004467 OR10J3 EXON Missense_M328T exm114173 1 159283494 [T/C] NM_001004467 OR10J3 EXON Missense_E319G indel.7754 1 159283523 [I/D] NM_001004467 OR10J3 EXON exm114177 1 159283584 [G/C] NM_001004467 OR10J3 EXON Missense_C289S exm114180 1 159283642 [T/C] NM_001004467 OR10J3 EXON Missense_G270R exm114184 1 159283737 [A/G] NM_001004467 OR10J3 EXON Missense_A238V exm114185 1 159283746 [T/C] NM_001004467 OR10J3 EXON Missense_Q235R rs11265165 1 159283746 [T/C] NM_001004467 OR10J3 EXON Missense_Q235R exm1721649 1 159283784 [G/C] NM_001004467 OR10J3 EXON Missense_I222M exm114188 1 159283925 [G/C] NM_001004467 OR10J3 EXON Missense_I175M exm114196 1 159284083 [A/G] NM_001004467 OR10J3 EXON Missense_R123C exm114202 1 159284245 [T/C] NM_001004467 OR10J3 EXON Missense_I69V exm114204 1 159284295 [A/G] NM_001004467 OR10J3 EXON Missense_L52P exm114208 1 159284379 [T/C] NM_001004467 OR10J3 EXON Missense_H24R exm114211 1 159284385 [T/C] NM_001004467 OR10J3 EXON Missense_R22Q exm114212 1 159284386 [A/G] NM_001004467 OR10J3 EXON Missense_R22W rs4282816 1 159292850 [A/G] rs7552141 1 159311859 [A/G] rs11265177 1 159325834 [A/G] rs4656784 1 159326880 [A/G] rs11265178 1 159329046 [A/C] rs6687840 1 159342439 [T/C] exm-rs6687840 1 159342439 [T/C] exm-rs4446959 1 159357684 [T/C] rs10908720 1 159408803 [T/C] NM_001363557,NM_001363558 OR10J1,OR10J1 Silent,Silent rs6691297 1 159409196 [T/C] NM_001363557,NM_001363558 OR10J1,OR10J1 Silent,Silent exm114219 1 159409612 [A/G] NM_001363557,NM_001363558,NM_012351 OR10J1,OR10J1,OR10J1 EXON Missense_D11N,Missense_D11N,Missense_D22N exm114227 1 159409734 [T/G] NM_001363557,NM_001363558,NM_012351 OR10J1,OR10J1,OR10J1 EXON Missense_M51I,Missense_M51I,Missense_M62I exm114229 1 159409757 [T/C] NM_001363557,NM_001363558,NM_012351 OR10J1,OR10J1,OR10J1 EXON Missense_M59T,Missense_M59T,Missense_M70T exm2273709 1 159409798 [T/A] NM_001363557,NM_001363558,NM_012351 OR10J1,OR10J1,OR10J1 EXON Missense_Y73N,Missense_Y73N,Missense_Y84N exm114235 1 159409857 [A/G] NM_001363557,NM_001363558,NM_012351 OR10J1,OR10J1,OR10J1 EXON Missense_I92M,Missense_I92M,Missense_I103M rs12048482 1 159409857 [A/G] NM_001363557,NM_001363558,NM_012351 OR10J1,OR10J1,OR10J1 EXON Missense_I92M,Missense_I92M,Missense_I103M exm114238 1 159409884 [A/G] NM_001363557,NM_001363558,NM_012351 OR10J1,OR10J1,OR10J1 EXON Missense_M101I,Missense_M101I,Missense_M112I rs12118628 1 159409884 [A/G] NM_001363557,NM_001363558,NM_012351 OR10J1,OR10J1,OR10J1 EXON Missense_M101I,Missense_M101I,Missense_M112I exm114244 1 159409910 [T/C] NM_001363557,NM_001363558,NM_012351 OR10J1,OR10J1,OR10J1 EXON Missense_T110I,Missense_T110I,Missense_T121I exm114252 1 159409979 [T/G] NM_001363557,NM_001363558,NM_012351 OR10J1,OR10J1,OR10J1 EXON Missense_M133R,Missense_M133R,Missense_M144R exm1721705 1 159410002 [A/C] NM_001363557,NM_001363558,NM_012351 OR10J1,OR10J1,OR10J1 EXON Missense_R141S,Missense_R141S,Missense_R152S exm114259 1 159410122 [T/C] NM_001363557,NM_001363558,NM_012351 OR10J1,OR10J1,OR10J1 EXON Missense_R181C,Missense_R181C,Missense_R192C exm114262 1 159410162 [A/G] NM_001363557,NM_001363558,NM_012351 OR10J1,OR10J1,OR10J1 EXON Missense_N194S,Missense_N194S,Missense_N205S exm114276 1 159410354 [A/T] NM_001363557,NM_001363558,NM_012351 OR10J1,OR10J1,OR10J1 EXON Missense_Y258F,Missense_Y258F,Missense_Y269F exm114278 1 159410402 [T/C] NM_001363557,NM_001363558,NM_012351 OR10J1,OR10J1,OR10J1 EXON Missense_S274L,Missense_S274L,Missense_S285L rs11265204 1 159439913 [A/G] rs4233351 1 159446370 [A/G] exm-rs4133289 1 159453937 [T/C] rs10752629 1 159461877 [T/G] rs4325129 1 159462381 [A/G] rs12047230 1 159479005 [A/G] rs7532282 1 159479781 [T/C] exm1721758 1 159504942 [G/C] NM_001004469 OR10J5 EXON Missense_P286A exm114292 1 159504971 [A/G] NM_001004469 OR10J5 EXON Missense_T276M exm114297 1 159505101 [A/G] NM_001004469 OR10J5 EXON Missense_R233W indel.7758 1 159505158 [I/D] NM_001004469 OR10J5 EXON exm114298 1 159505202 [T/A] NM_001004469 OR10J5 EXON Missense_Y199F exm114299 1 159505212 [T/C] NM_001004469 OR10J5 EXON Missense_I196V exm114300 1 159505235 [T/C] NM_001004469 OR10J5 EXON Missense_C188Y rs4656837 1 159505297 [T/C] NM_001004469 OR10J5 EXON Synonymous_P167P exm114308 1 159505373 [A/G] NM_001004469 OR10J5 EXON Missense_A142V exm114309 1 159505397 [A/G] NM_001004469 OR10J5 EXON Missense_V134A exm114310 1 159505433 [T/C] NM_001004469 OR10J5 EXON Missense_R122H indel.7760 1 159505509 [I/D] NM_001004469 OR10J5 EXON exm114316 1 159505586 [A/G] NM_001004469 OR10J5 EXON Missense_T71M exm114322 1 159505762 [T/G] NM_001004469 OR10J5 EXON Missense_F12L rs10494325 1 159517379 [T/C] rs6702567 1 159517860 [T/C] rs6681315 1 159531750 [A/G] rs3753867 1 159557369 [A/G] exm114324 1 159557721 [T/C] NM_001639 APCS EXON Missense_P4S var_1_159557780 1 159557780 [A/G] NM_001639 APCS Silent exm114335 1 159558024 [C/G] NM_001639 APCS EXON Nonsense_Y66X exm114342 1 159558227 [T/C] NM_001639 APCS EXON Missense_V134A rs2808661 1 159558258 [A/G] NM_001639 APCS EXON Synonymous_V144V variant.7764 1 159558492 [A/G] NM_001639 APCS EXON Nonsense_W222X rs1037143 1 159567813 [T/C] rs2121479 1 159581387 [T/C] rs10494331 1 159582103 [T/C] rs2794510 1 159592915 [T/C] rs983789 1 159595682 [T/G] exm2268942 1 159598533 [T/C] rs984553 1 159599414 [A/G] rs2808658 1 159613798 [T/C] rs2592900 1 159616629 [A/G] rs1446975 1 159629342 [T/C] exm-rs12093699 1 159647988 [A/G] rs2592887 1 159652939 [T/C] rs726640 1 159655518 [A/G] rs2369146 1 159668195 [A/G] exm-rs876537 1 159674933 [T/C] rs2794520 1 159678816 [T/C] exm-rs2794520 1 159678816 [T/C] rs3093077 1 159679636 [A/C] exm-rs2808630 1 159680868 [T/C] variant.7766 1 159683394 [T/C] NM_001329058,NM_001329057,NM_000567 CRP,CRP,CRP EXON Silent,Missense_S199N,Missense_S199N variant.7768 1 159683637 [T/C] NM_001329058,NM_001329057,NM_000567 CRP,CRP,CRP EXON Silent,Nonsense_W118X,Nonsense_W118X exm114370 1 159683683 [T/C] NM_001329058,NM_001329057,NM_000567 CRP,CRP,CRP EXON Silent,Missense_E103K,Missense_E103K variant.7769 1 159683735 [T/C] NM_001329058,NM_001329057,NM_000567 CRP,CRP,CRP EXON Silent,Nonsense_W85X,Nonsense_W85X newrs34672691 1 159683791 [A/G] NM_001329058,NM_001329057,NM_000567 CRP,CRP,CRP EXON Silent,Missense_Y67H,Missense_Y67H newrs140571492 1 159683796 [T/C] NM_001329058,NM_001329057,NM_000567 CRP,CRP,CRP EXON Missense_R65H,Missense_R65H,Missense_R65H variant.7773 1 159683797 [A/G] NM_001329058,NM_001329057,NM_000567 CRP,CRP,CRP EXON Missense_R65C,Missense_R65C,Missense_R65C exm114381 1 159683814 [A/G] NM_001329058,NM_001329057,NM_000567 CRP,CRP,CRP EXON Missense_T59M,Missense_T59M,Missense_T59M exm114382 1 159683816 [G/C] NM_001329058,NM_001329057,NM_000567 CRP,CRP,CRP EXON Nonsense_Y58X,Nonsense_Y58X,Nonsense_Y58X exm114385 1 159683856 [A/G] NM_001329058,NM_001329057,NM_000567 CRP,CRP,CRP EXON Missense_T45M,Missense_T45M,Missense_T45M exm114393 1 159684245 [T/G] NM_001329058,NM_001329057,NM_000567 CRP,CRP,CRP EXON Missense_T11P,Missense_T11P,Missense_T11P rs3091244 1 159684665 [A/G] exm-rs3093059 1 159685136 [A/G] rs3122012 1 159689323 [T/C] rs12079772 1 159690466 [A/C] rs2808635 1 159694209 [T/G] exm-rs7553007 1 159698549 [A/G] exm-rs11265260 1 159700039 [A/G] exm-rs11265263 1 159710517 [A/C] rs4285692 1 159714149 [T/C] rs4656849 1 159723521 [A/G] rs12094103 1 159723619 [A/G] rs11265269 1 159728127 [T/C] rs4604689 1 159736139 [A/G] rs6427494 1 159738719 [T/G] rs7519478 1 159743845 [T/C] rs3806185 1 159748886 [T/C] exm114409 1 159751104 [A/G] NM_001319659,NM_017823,NM_001319658 DUSP23,DUSP23,DUSP23 EXON Missense_D72N,Missense_D72N,Missense_D72N exm114414 1 159751959 [C/G] NM_001319659,NM_017823,NM_001319658 DUSP23,DUSP23,DUSP23 EXON Missense_C95S,Missense_C95S,Missense_C95S exm114417 1 159752015 [T/C] NM_001319659,NM_017823,NM_001319658 DUSP23,DUSP23,DUSP23 EXON Missense_R114W,Missense_R114W,Missense_R114W exm114419 1 159752046 [T/A] NM_001319659,NM_017823,NM_001319658 DUSP23,DUSP23,DUSP23 EXON Missense_E124V,Missense_E124V,Missense_E124V exm114422 1 159752066 [A/G] NM_001319659,NM_017823,NM_001319658 DUSP23,DUSP23,DUSP23 EXON Missense_G131S,Missense_G131S,Missense_G131S indel.7778 1 159752088 [I/D] NM_001319659,NM_017823,NM_001319658 DUSP23,DUSP23,DUSP23 EXON exm-rs4233356 1 159753183 [A/G] rs4630124 1 159765249 [T/C] rs13375938 1 159771330 [T/C] NM_001284217 FCRL6 Silent rs11265281 1 159772751 [A/G] NM_001284217,NM_001004310 FCRL6,FCRL6 Silent,Silent exm114438 1 159778115 [T/C] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Missense_T74I,Missense_T67I exm114454 1 159778798 [T/C] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Nonsense_R130X,Nonsense_R123X exm114455 1 159778799 [A/G] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Missense_R130Q,Missense_R123Q exm114458 1 159778822 [A/G] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Missense_R138G,Missense_R131G exm114485 1 159779390 [A/G] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Missense_E275G,Missense_E268G exm114488 1 159779426 [A/G] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Missense_N287S,Missense_N280S exm114492 1 159779465 [T/C] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Missense_S300F,Missense_S293F exm114495 1 159779938 [T/C] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Missense_A321V,Missense_A314V newrs148078638 1 159779984 [T/G] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Nonsense_Y336X,Nonsense_Y329X exm114499 1 159779985 [T/G] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Missense_V337L,Missense_V330L variant.7784 1 159780007 [A/G] NM_001284217,NM_001004310 FCRL6,FCRL6 Silent,Silent rs6656979 1 159782181 [A/C] NM_001284217,NM_001004310 FCRL6,FCRL6 Silent,Silent exm114503 1 159783317 [A/G] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Missense_G357R,Missense_G350R exm114504 1 159783343 [T/C] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Synonymous_N365N,Synonymous_N358N exm114505 1 159783344 [A/G] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Missense_V366M,Missense_V359M exm114506 1 159784047 [A/G] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Missense_Y378C,Missense_Y371C exm114508 1 159784067 [T/G] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Missense_S385A,Missense_S378A exm114509 1 159784077 [A/G] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Missense_S388N,Missense_S381N var_1_159784082 1 159784082 [T/G] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Missense_A390S,Missense_A383S variant.7788 1 159784083 [A/G] NM_001284217,NM_001004310 FCRL6,FCRL6 Silent,Silent variant.7790 1 159785329 [A/C] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Silent,Missense_S395R exm114518 1 159785345 [T/C] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Synonymous_C405C,Missense_A400V exm114522 1 159785413 [T/C] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Silent,Nonsense_Q423X exm114525 1 159785425 [A/G] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Silent,Missense_S427G exm114527 1 159785428 [A/G] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Silent,Missense_D428N exm114530 1 159785447 [A/G] NM_001284217,NM_001004310 FCRL6,FCRL6 EXON Silent,Missense_C434Y exm114535 1 159796689 [T/A] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Missense_M1L,Missense_M1L exm114538 1 159796701 [A/C] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Missense_P5T,Missense_P5T exm114545 1 159799703 [A/G] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Missense_G30R,Silent exm114548 1 159799728 [T/C] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Missense_A38V,Silent exm114551 1 159799731 [A/G] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Missense_R39H,Silent exm114556 1 159799772 [T/C] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Missense_L53F,Silent exm114557 1 159799787 [T/G] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Nonsense_E58X,Silent exm114559 1 159799809 [A/G] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Missense_R65Q,Silent exm114562 1 159799886 [A/G] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Missense_G91R,Silent exm114567 1 159799910 [A/G] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Missense_G99S,Silent exm114568 1 159799917 [T/C] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Missense_F101S,Silent exm114569 1 159799922 [A/G] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Missense_V103M,Silent exm2231581 1 159799970 [A/C] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Missense_L119I,Silent exm114572 1 159799981 [T/C] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Synonymous_Y122Y,Silent exm114573 1 159799982 [A/G] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Missense_D123N,Silent rs10158752 1 159801074 [A/G] NM_020125,NM_001330741 SLAMF8,SLAMF8 Silent,Silent exm114575 1 159802683 [A/G] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Missense_V129M,Missense_V20M exm114582 1 159802845 [A/G] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Missense_G183R,Missense_G74R exm1721931 1 159802942 [T/C] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Missense_T215M,Missense_T106M exm114587 1 159802965 [A/G] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Missense_E223K,Missense_E114K exm114592 1 159803114 [A/G] NM_020125,NM_001330741 SLAMF8,SLAMF8 EXON Missense_M246V,Missense_M137V rs2501312 1 159808286 [A/G] NR_147125,NR_147122,NR_147124,NR_147123 SNHG28,SNHG28,SNHG28,SNHG28 Silent,Silent,Silent,Silent exm114602 1 159810633 [T/C] NR_147125,NR_147122,NR_147124,NR_147123 SNHG28,SNHG28,SNHG28,SNHG28 EXON Silent,Silent,Silent,Silent exm114603 1 159810939 [T/C] NR_147125,NR_147122,NR_147124,NR_147123 SNHG28,SNHG28,SNHG28,SNHG28 EXON Silent,Silent,Silent,Silent rs2501346 1 159818304 [T/C] NR_147125,NR_147122,NR_147124,NR_147123 SNHG28,SNHG28,SNHG28,SNHG28 Silent,Silent,Silent,Silent rs4133290 1 159819491 [T/C] NR_147125,NR_147122,NR_147124,NR_147123 SNHG28,SNHG28,SNHG28,SNHG28 Silent,Silent,Silent,Silent rs11807946 1 159824205 [T/C] NR_147125,NR_147122,NR_147124,NR_147123,NM_001013661 SNHG28,SNHG28,SNHG28,SNHG28,VSIG8 EXON Silent,Silent,Silent,Silent,Silent exm114614 1 159824787 [A/G] NR_147125,NR_147122,NR_147124,NR_147123,NM_001013661 SNHG28,SNHG28,SNHG28,SNHG28,VSIG8 EXON Silent,Silent,Silent,Silent,Missense_A334V exm114618 1 159824967 [C/G] NM_001013661 VSIG8 Silent exm114622 1 159825833 [T/C] NM_001013661 VSIG8 EXON Missense_G271S exm114623 1 159825853 [A/T] NM_001013661 VSIG8 EXON Missense_V264E exm114629 1 159826364 [A/G] NM_001013661 VSIG8 EXON Missense_V241A exm114634 1 159827606 [A/G] NM_001013661 VSIG8 EXON Missense_S194F exm114639 1 159827747 [A/G] NM_001013661 VSIG8 EXON Missense_A147V exm114641 1 159827903 [T/C] NM_001013661 VSIG8 EXON Missense_R136Q exm114650 1 159828534 [C/G] NM_001013661 VSIG8 EXON Missense_R73P rs2494506 1 159829535 [T/C] NM_001013661 VSIG8 Silent rs2501332 1 159835673 [T/G] rs2494515 1 159839971 [T/C] rs11265289 1 159842103 [T/C] exm1721997 1 159842304 [T/C] NM_012337 CFAP45 EXON Missense_N543D variant.7805 1 159842729 [T/C] NM_012337 CFAP45 Silent exm114676 1 159842773 [A/C] NM_012337 CFAP45 EXON Missense_R513L exm114678 1 159842779 [T/C] NM_012337 CFAP45 EXON Missense_R511H exm1722003 1 159842834 [A/G] NM_012337 CFAP45 EXON Missense_R493W exm114689 1 159842923 [T/C] NM_012337 CFAP45 EXON Missense_E463G exm114695 1 159846376 [T/C] NM_012337 CFAP45 EXON Missense_R441Q exm1722015 1 159847162 [T/C] NM_012337 CFAP45 EXON Missense_A379T exm1722020 1 159850436 [T/C] NM_012337 CFAP45 EXON Missense_I318V exm114719 1 159850438 [T/C] NM_012337 CFAP45 EXON Missense_R317H exm114722 1 159850481 [A/G] NM_012337 CFAP45 EXON Nonsense_R303X rs16842786 1 159852092 [T/G] NM_012337 CFAP45 Silent rs6671929 1 159853139 [A/G] NM_012337 CFAP45 Silent rs12566514 1 159853664 [T/C] NM_012337 CFAP45 Silent variant.7808 1 159854221 [A/G] NM_012337 CFAP45 Silent exm114724 1 159854251 [T/C] NM_012337 CFAP45 EXON Missense_E291G exm114735 1 159856388 [T/C] NM_012337 CFAP45 EXON Missense_R227Q exm114737 1 159856403 [T/C] NM_012337 CFAP45 EXON Missense_D222G exm114742 1 159856449 [A/G] NM_012337 CFAP45 EXON Missense_R207W exm2231584 1 159857645 [T/C] NM_012337 CFAP45 EXON Missense_K192E exm114745 1 159857654 [C/G] NM_012337 CFAP45 EXON Missense_E189Q exm114749 1 159857786 [A/G] NM_012337 CFAP45 EXON Nonsense_R145X exm1722036 1 159858193 [T/G] NM_012337 CFAP45 EXON Missense_E122D exm114755 1 159858278 [T/G] NM_012337 CFAP45 EXON Missense_T94K rs4656856 1 159859392 [T/C] NM_012337 CFAP45 Silent exm114760 1 159860322 [A/G] NM_012337 CFAP45 EXON Missense_R74C exm114763 1 159860369 [T/C] NM_012337 CFAP45 EXON Missense_R58Q rs10752631 1 159862153 [T/C] NM_012337 CFAP45 Silent exm114766 1 159863011 [T/C] NM_012337 CFAP45 EXON Missense_V30M exm114768 1 159863028 [T/C] NM_012337 CFAP45 EXON Missense_R24H rs2501319 1 159868546 [T/C] NM_012337 CFAP45 Silent rs7522000 1 159880660 [T/C] exm1722085 1 159888640 [T/C] NM_001277224,NM_003564,NM_001277223 TAGLN2,TAGLN2,TAGLN2 EXON Missense_A205T,Missense_A184T,Missense_A184T exm1722086 1 159888645 [T/C] NM_001277224,NM_003564,NM_001277223 TAGLN2,TAGLN2,TAGLN2 EXON Missense_R203H,Missense_R182H,Missense_R182H exm1722092 1 159890121 [A/G] NM_001277224,NM_003564,NM_001277223 TAGLN2,TAGLN2,TAGLN2 EXON Missense_T81M,Missense_T60M,Missense_T60M exm114806 1 159890155 [A/G] NM_001277224,NM_003564,NM_001277223 TAGLN2,TAGLN2,TAGLN2 EXON Missense_R70C,Missense_R49C,Missense_R49C exm114812 1 159890281 [T/C] NM_001277224,NM_003564,NM_001277223 TAGLN2,TAGLN2,TAGLN2 EXON Missense_A28T,Missense_A7T,Missense_A7T exm2250049 1 159896294 [A/G] exm114831 1 159897251 [A/G] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_C1142R,Missense_C1126R exm114837 1 159897559 [T/G] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_P1117T,Missense_P1101T exm114850 1 159898158 [T/C] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_R1007Q,Missense_R991Q exm114860 1 159898420 [A/G] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_P920S,Missense_P904S exm114861 1 159898422 [T/C] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_G919D,Missense_G903D exm114866 1 159898500 [T/C] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_G893E,Missense_G877E rs7543462 1 159898913 [A/G] NM_001135050,NM_020789 IGSF9,IGSF9 Silent,Silent exm114878 1 159899170 [G/C] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_I780M,Missense_I764M exm114883 1 159899462 [A/C] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_R764S,Missense_R748S exm114884 1 159899469 [G/C] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_R762P,Missense_R746P exm114886 1 159899485 [T/C] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_G757S,Missense_G741S exm114893 1 159899764 [A/T] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_D689V,Missense_D673V exm114902 1 159900552 [C/G] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_Q581H,Missense_Q565H exm114907 1 159900593 [A/G] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_H568Y,Missense_H552Y exm114911 1 159900655 [A/G] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_A547V,Missense_A531V exm114940 1 159902414 [G/C] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_G378A,Missense_G362A exm114942 1 159902427 [A/G] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Nonsense_Q374X,Nonsense_Q358X exm114944 1 159902438 [A/G] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_P370L,Missense_P354L exm2231588 1 159903996 [T/G] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_A363D,Missense_A347D exm114949 1 159904050 [A/G] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_P345L,Missense_P329L exm114954 1 159904340 [T/C] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_R279Q,Missense_R279Q exm114956 1 159904358 [T/C] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_R273H,Missense_R273H exm114961 1 159904555 [A/G] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_V244A,Missense_V244A rs10908750 1 159906156 [A/G] NM_001135050,NM_020789 IGSF9,IGSF9 Silent,Silent exm114985 1 159907617 [T/G] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_L87M,Missense_L87M exm114986 1 159907619 [T/C] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_R86Q,Missense_R86Q exm114995 1 159912858 [T/C] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_G48S,Missense_G48S exm114998 1 159912899 [T/C] NM_001135050,NM_020789 IGSF9,IGSF9 EXON Missense_G34E,Missense_G34E newrs182177421 1 159921549 [A/G] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON Silent,Nonsense_R258X,Nonsense_R167X exm115015 1 159921606 [T/C] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON Synonymous_P102P,Missense_K239E,Missense_K148E exm115026 1 159922175 [T/C] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON Silent,Missense_E181K,Silent exm115030 1 159922226 [C/G] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON Silent,Missense_D164H,Silent rs2249707 1 159922959 [T/C] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 Silent,Silent,Silent variant.7824 1 159923098 [T/C] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 Silent,Silent,Silent exm115035 1 159923111 [T/G] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON Silent,Missense_I127L,Missense_I127L indel.7825 1 159923127 [D/I] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON exm115036 1 159923141 [A/G] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON Silent,Missense_S117P,Missense_S117P exm115040 1 159923234 [T/C] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON Silent,Missense_V86M,Missense_V86M exm115045 1 159923350 [T/C] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON Missense_D47G,Missense_D47G,Missense_D47G exm115047 1 159923395 [A/G] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON Missense_A32V,Missense_A32V,Missense_A32V rs2840591 1 159940000 [A/G] NR_038849 LINC01133 Silent rs4378200 1 159941535 [A/G] NR_038849 LINC01133 Silent rs16831222 1 159958368 [A/G] rs2789428 1 159959505 [A/G] rs2185214 1 159976751 [A/G] rs2211107 1 159977542 [T/C] rs6669066 1 159986521 [A/C] rs11577096 1 159987008 [T/C] rs6659129 1 159995633 [A/G] indel.7827 1 160000273 [D/I] NM_145167 PIGM EXON exm115060 1 160000380 [T/C] NM_145167 PIGM EXON Missense_N384D exm115063 1 160000435 [A/T] NM_145167 PIGM EXON Missense_F365L exm115068 1 160000580 [T/C] NM_145167 PIGM EXON Missense_C317Y exm115071 1 160000667 [A/G] NM_145167 PIGM EXON Missense_F288S var_1_160000683 1 160000683 [A/C] NM_145167 PIGM EXON Nonsense_E283X indel.7829 1 160000840 [I/D] NM_145167 PIGM EXON exm115081 1 160001012 [T/C] NM_145167 PIGM EXON Missense_Y173C exm115093 1 160001300 [A/G] NM_145167 PIGM EXON Missense_T77I rs17367150 1 160006809 [A/G] exm115109 1 160011262 [T/C] NM_002241 KCNJ10 EXON Missense_K354R exm115111 1 160011280 [T/C] NM_002241 KCNJ10 EXON Missense_R348H newrs137853074 1 160011281 [A/G] NM_002241 KCNJ10 EXON Missense_R348C exm115113 1 160011511 [T/C] NM_002241 KCNJ10 EXON Missense_R271H exm115114 1 160011512 [A/G] NM_002241 KCNJ10 EXON Missense_R271C exm115116 1 160011588 [G/C] NM_002241 KCNJ10 EXON Missense_D245E exm115117 1 160011635 [A/G] NM_002241 KCNJ10 EXON Missense_R230W exm115120 1 160011793 [T/C] NM_002241 KCNJ10 EXON Missense_E177G exm115126 1 160012023 [T/G] NM_002241 KCNJ10 EXON Missense_D100E exm115128 1 160012073 [T/C] NM_002241 KCNJ10 EXON Missense_V84M exm115130 1 160012187 [T/C] NM_002241 KCNJ10 EXON Missense_D46N exm115136 1 160012270 [T/C] NM_002241 KCNJ10 EXON Missense_R18Q exm115137 1 160012271 [A/G] NM_002241 KCNJ10 EXON Missense_R18W exm115140 1 160012313 [T/C] NM_002241 KCNJ10 EXON Missense_V4I rs1186685 1 160029212 [A/G] NM_002241 KCNJ10 Silent rs11265313 1 160029456 [A/G] NM_002241 KCNJ10 Silent rs1321650 1 160045858 [A/G] rs12402888 1 160059748 [A/C] rs11265318 1 160060272 [A/G] rs12408242 1 160061934 [T/C] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 Silent,Silent,Silent exm115186 1 160062119 [A/G] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_A560V,Missense_A560V,Missense_A560V exm115187 1 160062126 [A/G] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_Y558H,Missense_Y558H,Missense_Y558H exm115189 1 160062177 [T/C] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_V541M,Missense_V541M,Missense_V541M exm115197 1 160062398 [T/C] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_R467Q,Missense_R467Q,Missense_R467Q exm115199 1 160062453 [T/C] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_G449R,Missense_G449R,Missense_G449R exm1722234 1 160062768 [A/G] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_R420C,Missense_R420C,Missense_R420C exm115215 1 160062927 [T/C] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_V367M,Missense_V367M,Missense_V367M exm115220 1 160062977 [A/G] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_A350V,Missense_A350V,Missense_A350V exm115222 1 160063065 [T/G] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_P321T,Missense_P321T,Missense_P321T exm115223 1 160063083 [A/G] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_R315W,Missense_R315W,Missense_R315W exm115227 1 160063518 [T/C] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_V296M,Missense_V296M,Missense_V296M exm115230 1 160063553 [C/G] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_A284G,Missense_A284G,Missense_A284G exm115234 1 160063586 [T/G] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_A273D,Missense_A273D,Missense_A273D exm2275508 1 160063587 [A/C] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_A273S,Missense_A273S,Missense_A273S exm115241 1 160063673 [T/C] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_R244H,Missense_R244H,Missense_R244H exm115251 1 160063880 [A/G] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_T175M,Missense_T175M,Missense_T175M exm2273710 1 160063926 [C/G] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_P160A,Missense_P160A,Missense_P160A rs2369406 1 160064418 [T/C] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 Silent,Silent,Silent exm115260 1 160064697 [T/C] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_R135H,Missense_R135H,Missense_R135H exm115274 1 160064833 [T/C] NM_001320247,NM_052868,NM_001206665 IGSF8,IGSF8,IGSF8 EXON Missense_V90I,Missense_V90I,Missense_V90I rs10908753 1 160075437 [T/G] rs11265323 1 160076224 [A/G] exm115295 1 160090708 [T/A] NM_000702 ATP1A2 EXON Missense_Y9N exm115300 1 160091016 [A/G] NM_000702 ATP1A2 EXON Missense_R51H rs2753267 1 160092121 [A/G] NM_000702 ATP1A2 Silent exm115311 1 160093206 [T/C] NM_000702 ATP1A2 EXON Synonymous_N127N newrs150907359 1 160093846 [A/G] NM_000702 ATP1A2 EXON Synonymous_Q165Q rs1023421 1 160094644 [A/G] NM_000702 ATP1A2 Silent rs6695366 1 160097666 [A/G] NM_000702 ATP1A2 Silent exm115347 1 160098815 [A/G] NM_000702 ATP1A2 EXON Missense_R421Q exm115351 1 160099904 [A/G] NM_000702 ATP1A2 EXON Missense_E492K exm115361 1 160100226 [T/A] NM_000702 ATP1A2 EXON Missense_N556Y exm2250053 1 160100321 [T/C] NM_000702 ATP1A2 EXON Synonymous_S587S exm115385 1 160105381 [G/C] NM_000702 ATP1A2 EXON Missense_G758A exm115402 1 160106787 [A/C] NM_000702 ATP1A2 EXON Missense_T936P rs1046995 1 160112741 [T/C] NM_000702 ATP1A2 EXON Silent rs12753283 1 160114070 [A/C] exm1722352 1 160121869 [A/T] NM_144699 ATP1A4 EXON Missense_H13Q exm115423 1 160121873 [T/C] NM_144699 ATP1A4 EXON Nonsense_Q15X exm115424 1 160121885 [A/C] NM_144699 ATP1A4 EXON Synonymous_R19R indel.7845 1 160121909 [I/D] NM_144699 ATP1A4 EXON exm2250054 1 160121971 [A/G] NM_144699 ATP1A4 EXON Synonymous_V47V exm115432 1 160123000 [A/G] NM_144699 ATP1A4 EXON Missense_V65M exm115433 1 160124866 [T/C] NM_144699 ATP1A4 EXON Missense_L80P exm115434 1 160124875 [A/G] NM_144699 ATP1A4 EXON Missense_G83D rs6427504 1 160124875 [A/G] NM_144699 ATP1A4 EXON Missense_G83D exm115444 1 160125859 [A/G] NM_144699 ATP1A4 EXON Missense_V146I exm115447 1 160125871 [A/G] NM_144699 ATP1A4 EXON Missense_V150I exm115462 1 160129232 [C/G] NM_144699 ATP1A4 EXON Missense_P232A exm115463 1 160129260 [A/G] NM_144699 ATP1A4 EXON Missense_H241R indel.7849 1 160129318 [I/D] NM_144699 ATP1A4 rs7551983 1 160129495 [A/G] NM_144699 ATP1A4 Silent rs7554223 1 160133177 [A/G] NM_144699 ATP1A4 Silent exm115467 1 160133954 [T/C] NM_144699 ATP1A4 EXON Missense_R263W exm115468 1 160133955 [A/G] NM_144699 ATP1A4 EXON Missense_R263Q exm2250055 1 160133956 [G/C] NM_144699 ATP1A4 EXON Synonymous_R263R exm115469 1 160133956 [G/C] NM_144699 ATP1A4 EXON Synonymous_R263R exm115475 1 160134012 [T/C] NM_144699 ATP1A4 EXON Missense_T282M exm115477 1 160134056 [A/G] NM_144699 ATP1A4 EXON Missense_E297K exm115478 1 160134114 [T/C] NM_144699 ATP1A4 EXON Missense_A316V exm115492 1 160136447 [T/C] NM_144699 ATP1A4 EXON Missense_R393C exm115496 1 160136459 [A/G] NM_144699 ATP1A4 EXON Missense_A397T variant.7850 1 160136802 [T/C] NM_144699 ATP1A4 EXON Nonsense_R431X variant.7851 1 160136867 [A/G] NM_144699 ATP1A4 EXON Synonymous_K452K exm115508 1 160137113 [A/G] NM_144699 ATP1A4 EXON Missense_I468V exm115517 1 160141123 [A/G] NM_144699 ATP1A4 EXON Missense_C525Y exm115519 1 160141161 [A/G] NM_144699 ATP1A4 EXON Missense_N538D exm115521 1 160141171 [T/G] NM_144699 ATP1A4 EXON Missense_M541R exm115523 1 160141195 [A/G] NM_144699 ATP1A4 EXON Missense_Y549C exm115528 1 160141451 [A/G] NM_144699 ATP1A4 EXON Missense_M586I exm115531 1 160141491 [T/C] NM_144699 ATP1A4 EXON Missense_P600S exm2231595 1 160141497 [T/C] NM_144699 ATP1A4 EXON Nonsense_R602X newrs190411003 1 160141497 [T/C] NM_144699 ATP1A4 EXON Nonsense_R602X exm115534 1 160141525 [A/G] NM_144699 ATP1A4 EXON Missense_K611R exm115537 1 160143422 [T/G] NM_144699 ATP1A4 EXON Missense_G636C exm115539 1 160143453 [T/C] NM_144699 ATP1A4 EXON Missense_T646M exm115547 1 160143962 [G/C] NM_144699 ATP1A4 EXON Missense_D685H exm115551 1 160144384 [A/G] NM_144699 ATP1A4 EXON Missense_V720M exm115552 1 160144396 [A/G] NM_144699 ATP1A4 EXON Missense_G724R exm1722393 1 160144538 [T/G] NM_144699 ATP1A4 Silent exm2268770 1 160144895 [T/C] NM_144699 ATP1A4 Silent rs911228 1 160145298 [A/G] NM_144699 ATP1A4 Silent rs881291 1 160146173 [T/C] NM_144699 ATP1A4 Silent exm115572 1 160146341 [A/T] NM_144699 ATP1A4 EXON Missense_T847S variant.7855 1 160146352 [A/G] NM_144699 ATP1A4 EXON Synonymous_L850L rs6693877 1 160146790 [T/G] NM_144699 ATP1A4 Silent exm115576 1 160147312 [T/C] NM_144699,NM_001001734 ATP1A4,ATP1A4 EXON Missense_M865T,Missense_M1T exm115578 1 160147345 [T/C] NM_144699,NM_001001734 ATP1A4,ATP1A4 EXON Missense_F876S,Missense_F12S exm115579 1 160147429 [A/T] NM_144699,NM_001001734 ATP1A4,ATP1A4 EXON Missense_L904Q,Missense_L40Q rs11265346 1 160148810 [T/C] NM_144699,NM_001001734 ATP1A4,ATP1A4 Silent,Silent newrs137966369 1 160151486 [T/C] NM_144699,NM_001001734 ATP1A4,ATP1A4 EXON Nonsense_R917X,Nonsense_R53X exm115593 1 160151799 [A/G] NM_144699,NM_001001734 ATP1A4,ATP1A4 EXON Missense_A983T,Missense_A119T rs1935306 1 160152057 [T/C] NM_144699,NM_001001734 ATP1A4,ATP1A4 Silent,Silent exm115598 1 160156133 [T/C] NM_144699,NM_001001734 ATP1A4,ATP1A4 EXON Missense_L1013F,Missense_L149F newrs139435184 1 160156460 [T/G] NM_144699,NM_001001734 ATP1A4,ATP1A4 Silent,Silent var_1_160156466 1 160156467 [I/D] NM_144699,NM_001001734 ATP1A4,ATP1A4 EXON rs659235 1 160159156 [A/G] exm115615 1 160160671 [A/G] NM_001231 CASQ1 EXON Missense_D44N exm115616 1 160160675 [T/G] NM_001231 CASQ1 EXON Missense_G45V exm115619 1 160160756 [A/G] NM_001231 CASQ1 EXON Missense_H72R exm115622 1 160160767 [A/G] NM_001231 CASQ1 EXON Missense_E76K exm115626 1 160160801 [T/C] NM_001231 CASQ1 EXON Missense_M87T exm115628 1 160162591 [G/C] NM_001231 CASQ1 Silent rs3747623 1 160163509 [T/C] NM_001231 CASQ1 Silent exm115634 1 160163591 [A/T] NM_001231 CASQ1 EXON Missense_Y140F exm115636 1 160163615 [T/C] NM_001231 CASQ1 EXON Missense_T148I variant.7865 1 160163637 [T/G] NM_001231 CASQ1 EXON Missense_D155E exm115642 1 160164827 [T/C] NM_001231 CASQ1 EXON Missense_I164T variant.7867 1 160164847 [T/C] NM_001231 CASQ1 EXON Nonsense_Q171X variant.7868 1 160164913 [T/C] NM_001231 CASQ1 EXON Missense_H193Y exm115652 1 160165695 [T/G] NM_001231 CASQ1 EXON Missense_K220N variant.7870 1 160168522 [A/G] NM_001231 CASQ1 Silent exm115664 1 160168800 [G/C] NM_001231 CASQ1 EXON Missense_P314R newrs150143470 1 160169695 [T/G] NM_001231 CASQ1 EXON Nonsense_G347X exm115668 1 160171036 [T/C] NM_001231 CASQ1 EXON Missense_A354V exm115673 1 160171108 [A/G] NM_001231 CASQ1 EXON Missense_E378G exm115680 1 160181360 [A/G] NM_001297576,NM_003768,NM_001297577,NR_123724,NM_001297578 PEA15,PEA15,PEA15,PEA15,PEA15 EXON Missense_Q30R,Missense_Q9R,Missense_Q9R,Silent,Missense_Q9R exm115681 1 160181369 [A/C] NM_001297576,NM_003768,NM_001297577,NR_123724,NM_001297578 PEA15,PEA15,PEA15,PEA15,PEA15 EXON Missense_T33N,Missense_T12N,Missense_T12N,Silent,Missense_T12N rs4656252 1 160185262 [A/G] exm115711 1 160192473 [T/C] NM_015726,NR_028103,NR_028104 DCAF8,DCAF8,DCAF8 EXON Missense_I470V,Silent,Silent exm1722483 1 160201129 [T/C] NM_015726,NR_028103,NR_028104 DCAF8,DCAF8,DCAF8 EXON Missense_N343S,Silent,Silent variant.7875 1 160208397 [T/C] NM_015726,NR_028103,NR_028104 DCAF8,DCAF8,DCAF8 EXON Synonymous_K288K,Silent,Silent exm115749 1 160209852 [A/G] NM_015726,NR_028103,NR_028104,NR_028105,NR_028106 DCAF8,DCAF8,DCAF8,DCAF8,DCAF8 EXON Missense_R120C,Silent,Silent,Silent,Silent exm115750 1 160209860 [T/C] NM_015726,NR_028103,NR_028104,NR_028105,NR_028106 DCAF8,DCAF8,DCAF8,DCAF8,DCAF8 EXON Missense_R117H,Silent,Silent,Silent,Silent exm115757 1 160210035 [A/G] NM_015726,NR_028103,NR_028104,NR_028105,NR_028106 DCAF8,DCAF8,DCAF8,DCAF8,DCAF8 EXON Missense_R59C,Silent,Silent,Silent,Silent rs6683177 1 160214213 [A/G] NM_015726,NR_028103,NR_028104,NR_028105,NR_028106 DCAF8,DCAF8,DCAF8,DCAF8,DCAF8 Silent,Silent,Silent,Silent,Silent exm115762 1 160249362 [A/G] NR_036493,NR_036492,NM_002857,NM_001193644 PEX19,PEX19,PEX19,PEX19 EXON Silent,Silent,Synonymous_G293G,Missense_V276A exm115763 1 160249363 [C/G] NR_036493,NR_036492,NM_002857,NM_001193644 PEX19,PEX19,PEX19,PEX19 EXON Silent,Silent,Missense_G293A,Missense_V276L exm115766 1 160249384 [G/C] NR_036493,NR_036492,NM_002857,NM_001193644 PEX19,PEX19,PEX19,PEX19 EXON Silent,Silent,Missense_S286W,Silent exm115789 1 160251925 [A/C] NR_036493,NR_036492,NM_002857,NM_001193644 PEX19,PEX19,PEX19,PEX19 EXON Silent,Silent,Missense_D166E,Missense_D166E exm115799 1 160252291 [A/G] NR_036493,NR_036492,NM_002857,NM_001193644 PEX19,PEX19,PEX19,PEX19 EXON Silent,Silent,Synonymous_G116G,Synonymous_G116G exm115805 1 160252826 [A/G] NR_036493,NR_036492,NM_002857,NM_001193644 PEX19,PEX19,PEX19,PEX19 EXON Silent,Silent,Missense_A85V,Missense_A85V exm115810 1 160253385 [A/G] NR_036493,NR_036492,NM_002857,NM_001193644 PEX19,PEX19,PEX19,PEX19 EXON Silent,Silent,Missense_P39S,Missense_P39S exm115812 1 160253424 [T/G] NR_036493,NR_036492,NM_002857,NM_001193644 PEX19,PEX19,PEX19,PEX19 EXON Silent,Silent,Missense_L26I,Missense_L26I exm115818 1 160254899 [T/C] NR_036493,NR_036492,NM_002857,NM_001193644 PEX19,PEX19,PEX19,PEX19 EXON Silent,Silent,Missense_E6K,Missense_E6K exm1722575 1 160261619 [A/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_R1083L,Missense_R1092L exm115836 1 160261683 [A/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_V1062L,Missense_V1071L exm115858 1 160264593 [T/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_G844D,Missense_G853D exm115861 1 160264641 [T/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_G828E,Missense_G837E exm115863 1 160265582 [T/G] NM_004371,NM_001098398 COPA,COPA EXON Missense_N807T,Missense_N816T variant.7879 1 160267128 [T/C] NM_004371,NM_001098398 COPA,COPA Silent,Silent exm115869 1 160267162 [T/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_R745H,Missense_R754H variant.7880 1 160275478 [T/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_A510T,Missense_E510K variant.7881 1 160276139 [T/G] NM_004371,NM_001098398 COPA,COPA Silent,Silent rs7522166 1 160276709 [T/C] NM_004371,NM_001098398 COPA,COPA Silent,Silent exm115896 1 160278905 [A/G] NM_004371,NM_001098398 COPA,COPA EXON Missense_S402F,Missense_S402F exm115906 1 160281740 [T/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_M332V,Missense_M332V exm115913 1 160283859 [T/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_A255T,Missense_A255T exm115926 1 160302298 [T/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_T146A,Missense_T146A rs1802778 1 160303416 [A/G] NM_004371,NM_001098398 COPA,COPA EXON Synonymous_N121N,Synonymous_N121N variant.7882 1 160309694 [T/C] NM_004371,NM_001098398 COPA,COPA Silent,Silent exm115943 1 160312927 [T/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_V12I,Missense_V12I exm115964 1 160318881 [A/G] NM_001349729,NM_001290186,NM_015331,NM_001290184 NCSTN,NCSTN,NCSTN,NCSTN EXON Missense_M95V,Missense_M95V,Missense_M95V,Missense_M75V exm115991 1 160322750 [A/G] NM_001349729,NM_001290186,NM_015331,NM_001290184 NCSTN,NCSTN,NCSTN,NCSTN EXON Missense_E357G,Missense_E219G,Missense_E357G,Missense_E337G exm115999 1 160323939 [A/G] NM_001349729,NM_001290186,NM_015331,NM_001290184 NCSTN,NCSTN,NCSTN,NCSTN EXON Missense_S404N,Missense_S266N,Missense_S404N,Missense_S384N exm116000 1 160323957 [T/C] NM_001349729,NM_001290186,NM_015331,NM_001290184 NCSTN,NCSTN,NCSTN,NCSTN EXON Missense_A410V,Missense_A272V,Missense_A410V,Missense_A390V exm116001 1 160323977 [T/A] NM_001349729,NM_001290186,NM_015331,NM_001290184 NCSTN,NCSTN,NCSTN,NCSTN EXON Missense_N417Y,Missense_N279Y,Missense_N417Y,Missense_N397Y exm2250058 1 160326112 [C/G] NM_001349729,NM_001290186,NM_015331,NM_001290184 NCSTN,NCSTN,NCSTN,NCSTN EXON Synonymous_L538L,Synonymous_L400L,Synonymous_L538L,Synonymous_L518L exm116012 1 160326112 [C/G] NM_001349729,NM_001290186,NM_015331,NM_001290184 NCSTN,NCSTN,NCSTN,NCSTN EXON Synonymous_L538L,Synonymous_L400L,Synonymous_L538L,Synonymous_L518L exm116014 1 160326395 [A/G] NM_001349729,NM_001290186,NM_015331,NM_001290184 NCSTN,NCSTN,NCSTN,NCSTN EXON Missense_G549R,Missense_G411R,Missense_G549R,Missense_G529R exm116018 1 160326489 [A/G] NM_001349729,NM_001290186,NM_015331,NM_001290184 NCSTN,NCSTN,NCSTN,NCSTN EXON Missense_N580S,Missense_N442S,Missense_N580S,Missense_N560S exm116026 1 160327027 [G/C] NM_001349729,NM_001290186,NM_015331,NM_001290184 NCSTN,NCSTN,NCSTN,NCSTN EXON Silent,Missense_A526G,Missense_A664G,Missense_A644G exm116028 1 160328035 [T/C] NM_001349729,NM_001290186,NM_015331,NM_001290184 NCSTN,NCSTN,NCSTN,NCSTN EXON Missense_R631W,Missense_R564W,Missense_R702W,Missense_R682W exm116037 1 160340673 [G/C] NM_005598 NHLH1 EXON Missense_G51A exm116045 1 160340906 [T/C] NM_005598 NHLH1 EXON Missense_H129Y rs7521304 1 160342015 [T/G] NM_005598 NHLH1 EXON Silent rs11265378 1 160342944 [A/G] rs11265381 1 160349098 [T/G] rs12739519 1 160364947 [A/G] exm116054 1 160385871 [T/C] NM_020335 VANGL2 EXON Missense_R31C exm2231602 1 160385970 [C/G] NM_020335 VANGL2 EXON Missense_R64G exm116064 1 160388867 [T/C] NM_020335 VANGL2 EXON Missense_R90C exm116082 1 160389108 [A/G] NM_020335 VANGL2 EXON Missense_R170Q exm116097 1 160389322 [T/G] NM_020335 VANGL2 EXON Missense_Q241H exm116098 1 160389323 [G/C] NM_020335 VANGL2 EXON Missense_L242V variant.7885 1 160390209 [A/G] NM_020335 VANGL2 EXON Missense_R270H exm116104 1 160390242 [A/G] NM_020335 VANGL2 EXON Missense_H281R exm116106 1 160390284 [A/G] NM_020335 VANGL2 EXON Missense_K295R rs6427518 1 160391398 [T/C] NM_020335 VANGL2 Silent rs12085898 1 160392393 [T/C] NM_020335 VANGL2 Silent exm116117 1 160393930 [T/C] NM_020335 VANGL2 EXON Missense_R388W exm2273711 1 160394930 [T/C] NM_020335 VANGL2 EXON Missense_A443V exm116127 1 160394963 [A/G] NM_020335 VANGL2 EXON Missense_R454H exm116128 1 160394996 [A/C] NM_020335 VANGL2 EXON Missense_E465A exm116133 1 160395047 [A/G] NM_020335 VANGL2 EXON Missense_R482H rs10494343 1 160402539 [T/C] rs11265399 1 160406125 [A/G] rs10908780 1 160407840 [T/C] rs4656258 1 160408563 [A/G] rs11585691 1 160420036 [T/C] exm-rs16832015 1 160421916 [T/C] rs4656264 1 160427955 [T/C] rs2369611 1 160452218 [A/G] variant.7887 1 160458878 [T/C] NM_052931,NM_001184715,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Synonymous_R292R,Synonymous_R243R,Synonymous_R182R,Synonymous_R293R exm116146 1 160458901 [T/C] NM_052931,NM_001184715,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Missense_A285T,Missense_A236T,Missense_A175T,Missense_A286T rs1249551 1 160459639 [A/G] NM_052931,NM_001184715,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 Silent,Silent,Silent,Silent rs12119876 1 160459909 [A/C] NM_052931,NM_001184715,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 Silent,Silent,Silent,Silent exm116149 1 160459989 [A/G] NM_052931,NM_001184715,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Synonymous_P265P,Synonymous_P216P,Synonymous_P154P,Synonymous_P265P exm116150 1 160460002 [T/C] NM_052931,NM_001184715,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Missense_R261Q,Missense_R212Q,Missense_R150Q,Missense_R261Q variant.7888 1 160460910 [A/G] NM_052931,NM_001184715,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 Silent,Silent,Silent,Silent exm2250059 1 160460919 [A/G] NM_052931,NM_001184715,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Synonymous_C214C,Synonymous_C165C,Synonymous_C103C,Synonymous_C214C exm116157 1 160460919 [A/G] NM_052931,NM_001184715,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Synonymous_C214C,Synonymous_C165C,Synonymous_C103C,Synonymous_C214C exm116167 1 160465934 [T/G] NM_052931,NM_001184715,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Missense_K100T,Missense_K51T,Silent,Missense_K100T exm116168 1 160466004 [T/C] NM_052931,NM_001184715,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Missense_V77M,Missense_V28M,Silent,Missense_V77M exm116171 1 160492966 [T/C] NM_052931,NM_001184715,NM_001184716,NM_001184714 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Missense_Q6R,Missense_Q6R,Missense_Q6R,Missense_Q6R rs7528976 1 160499961 [T/C] rs1503859 1 160513183 [A/G] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Silent,Silent,Silent,Silent,Silent rs6427528 1 160516308 [A/G] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Silent,Silent,Silent,Silent,Silent rs1055880 1 160517692 [T/C] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Silent,Silent,Silent,Silent,Silent exm116177 1 160518056 [A/G] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Missense_I337T,Missense_I343T,Missense_I326T,Silent,Missense_I212T exm116180 1 160518074 [T/C] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Missense_G331E,Missense_G337E,Missense_G320E,Silent,Missense_G206E indel.7889 1 160518080 [D/I] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON indel.7890 1 160518106 [D/I] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON variant.7891 1 160519728 [A/G] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Synonymous_S311S,Synonymous_S317S,Synonymous_S300S,Nonsense_R268X,Synonymous_S186S exm116187 1 160519728 [A/G] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Synonymous_S311S,Synonymous_S317S,Synonymous_S300S,Nonsense_R268X,Synonymous_S186S exm116191 1 160520771 [T/C] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Missense_Q283R,Missense_Q289R,Missense_Q272R,Silent,Missense_Q158R exm116192 1 160520774 [A/G] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Missense_T282I,Missense_T288I,Missense_T271I,Silent,Missense_T157I var_1_160523157 1 160523158 [I/D] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON exm116199 1 160523186 [A/C] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Missense_L248V,Missense_L248V,Missense_L248V,Missense_L248V,Missense_L134V exm116202 1 160523243 [T/C] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Missense_V229M,Missense_V229M,Missense_V229M,Missense_V229M,Missense_V115M exm116204 1 160523264 [A/G] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Missense_H222Y,Missense_H222Y,Missense_H222Y,Missense_H222Y,Missense_H108Y exm116206 1 160523270 [A/G] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Missense_R220C,Missense_R220C,Missense_R220C,Missense_R220C,Missense_R106C exm116214 1 160523750 [A/G] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Missense_T192M,Missense_T192M,Missense_T192M,Missense_T192M,Missense_T78M exm116219 1 160523860 [A/G] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Synonymous_C155C,Synonymous_C155C,Synonymous_C155C,Synonymous_C155C,Synonymous_C41C indel.7895 1 160523916 [I/D] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON variant.7896 1 160535193 [T/C] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 Silent,Silent,Silent,Silent,Silent variant.7897 1 160535194 [A/G] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Missense_R130C,Missense_R130C,Missense_R130C,Missense_R130C,Silent exm1722830 1 160535331 [T/C] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Missense_R84Q,Missense_R84Q,Missense_R84Q,Missense_R84Q,Silent exm116230 1 160535367 [A/G] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Missense_P72L,Missense_P72L,Missense_P72L,Missense_P72L,Silent exm116233 1 160535493 [T/A] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 EXON Missense_N30I,Missense_N30I,Missense_N30I,Missense_N30I,Silent rs7551113 1 160537038 [A/C] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 Silent,Silent,Silent,Silent,Silent rs10908787 1 160548247 [A/G] NM_001330742,NM_001184879,NM_003874,NM_001184881,NM_001184882 CD84,CD84,CD84,CD84,CD84 Silent,Silent,Silent,Silent,Silent rs977020 1 160549579 [A/G] rs6692382 1 160551592 [A/G] rs7543788 1 160559549 [A/G] rs1061217 1 160580015 [A/G] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 EXON Silent,Silent,Silent,Silent,Silent exm116241 1 160580549 [T/G] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 EXON Silent,Silent,Silent,Silent,Missense_P333T rs1394079 1 160581306 [T/C] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 Silent,Silent,Silent,Silent,Silent exm116244 1 160582292 [A/G] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 EXON Synonymous_S342S,Silent,Silent,Silent,Missense_P315S exm116245 1 160582319 [T/C] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 EXON Synonymous_P333P,Silent,Silent,Silent,Missense_I306V exm116248 1 160589609 [T/C] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 EXON Missense_K302E,Silent,Silent,Silent,Missense_E274G rs16832283 1 160591997 [T/C] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 Silent,Silent,Silent,Silent,Silent exm116253 1 160593966 [A/G] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 EXON Missense_P237L,Silent,Silent,Silent,Missense_P237L rs6704124 1 160602248 [T/C] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 Silent,Silent,Silent,Silent,Silent exm116262 1 160604544 [G/C] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 EXON Missense_P187A,Silent,Silent,Silent,Missense_P187A indel.7899 1 160604682 [D/I] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 EXON exm116266 1 160607037 [A/G] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 EXON Missense_M120T,Silent,Silent,Silent,Missense_M120T indel.7900 1 160607191 [I/D] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 EXON exm116279 1 160607307 [A/G] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 EXON Missense_M30T,Silent,Silent,Silent,Missense_M30T exm116281 1 160607318 [A/G] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 EXON Synonymous_G26G,Silent,Silent,Silent,Synonymous_G26G exm116285 1 160616689 [A/G] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 EXON Missense_S16F,Silent,Silent,Silent,Missense_S16F rs2295612 1 160616703 [T/G] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 EXON Missense_F11L,Silent,Silent,Silent,Missense_F11L exm116286 1 160616703 [T/G] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 EXON Missense_F11L,Silent,Silent,Silent,Missense_F11L exm116289 1 160616729 [T/G] NM_001330754,NR_104400,NR_104399,NR_104401,NM_003037 SLAMF1,SLAMF1,SLAMF1,SLAMF1,SLAMF1 EXON Missense_P3T,Silent,Silent,Silent,Missense_P3T rs11265461 1 160630143 [T/C] rs6427540 1 160634588 [T/C] rs1553456 1 160648396 [A/G] exm116293 1 160648852 [A/G] NM_001778 CD48 EXON Missense_L241S exm116296 1 160648899 [C/G] NM_001778 CD48 EXON Missense_W225C exm2259826 1 160650913 [A/G] NM_001778,NM_001256030 CD48,CD48 EXON Silent,Missense_I244T exm116297 1 160650997 [A/G] NM_001778,NM_001256030 CD48,CD48 EXON Missense_T216I,Missense_T216I exm116300 1 160651021 [A/G] NM_001778,NM_001256030 CD48,CD48 EXON Missense_T208M,Missense_T208M exm1723022 1 160651069 [A/C] NM_001778,NM_001256030 CD48,CD48 EXON Missense_R192M,Missense_R192M rs10489637 1 160652476 [A/G] NM_001778,NM_001256030 CD48,CD48 Silent,Silent exm116315 1 160654715 [T/C] NM_001778,NM_001256030 CD48,CD48 EXON Missense_G116E,Missense_G116E exm116316 1 160654738 [G/C] NM_001778,NM_001256030 CD48,CD48 EXON Missense_I108M,Missense_I108M exm116317 1 160654758 [G/C] NM_001778,NM_001256030 CD48,CD48 EXON Missense_E102Q,Missense_E102Q rs507260 1 160670454 [T/C] NM_001778,NM_001256030 CD48,CD48 Silent,Silent rs10489639 1 160679527 [A/G] NM_001778,NM_001256030 CD48,CD48 Silent,Silent exm116337 1 160681531 [A/G] NM_001778,NM_001256030 CD48,CD48 EXON Missense_S8L,Missense_S8L rs352694 1 160687799 [A/G] rs503832 1 160696304 [T/C] rs983494 1 160703965 [A/G] rs549471 1 160705619 [T/C] exm116342 1 160709111 [A/G] NM_021181,NM_001282589,NM_001282591,NM_001282593,NM_001282590,NM_001282592,NM_001282595,NM_001282588,NM_001282596,NM_001282594 SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7 EXON Missense_C7Y,Missense_C7Y,Missense_C7Y,Missense_C7Y,Missense_C7Y,Missense_C7Y,Silent,Missense_C7Y,Missense_C7Y,Missense_C7Y rs535622 1 160710745 [T/C] NM_021181,NM_001282589,NM_001282591,NM_001282593,NM_001282590,NM_001282592,NM_001282595,NM_001282588,NM_001282596,NM_001282594 SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm116346 1 160717985 [T/G] NM_021181,NM_001282589,NM_001282591,NM_001282593,NM_001282590,NM_001282592,NM_001282595,NM_001282588,NM_001282596,NM_001282594 SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7 EXON Synonymous_G19G,Synonymous_G19G,Silent,Silent,Silent,Synonymous_G19G,Silent,Synonymous_G19G,Silent,Silent exm1723187 1 160718155 [A/G] NM_021181,NM_001282589,NM_001282591,NM_001282593,NM_001282590,NM_001282592,NM_001282595,NM_001282588,NM_001282596,NM_001282594 SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7 EXON Missense_R76H,Missense_R76H,Silent,Silent,Silent,Missense_R76H,Silent,Missense_R76H,Silent,Silent indel.7902 1 160718218 [I/D] NM_021181,NM_001282589,NM_001282591,NM_001282593,NM_001282590,NM_001282592,NM_001282595,NM_001282588,NM_001282596,NM_001282594 SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7 EXON exm116364 1 160719757 [T/C] NM_021181,NM_001282589,NM_001282591,NM_001282593,NM_001282590,NM_001282592,NM_001282595,NM_001282588,NM_001282596,NM_001282594 SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7 EXON Missense_H175Y,Silent,Missense_H68Y,Missense_H68Y,Missense_H68Y,Missense_H175Y,Missense_H41Y,Silent,Missense_H68Y,Missense_H68Y exm116365 1 160719767 [C/G] NM_021181,NM_001282589,NM_001282591,NM_001282593,NM_001282590,NM_001282592,NM_001282595,NM_001282588,NM_001282596,NM_001282594 SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7 EXON Missense_S178C,Silent,Missense_S71C,Missense_S71C,Missense_S71C,Missense_S178C,Missense_S44C,Silent,Missense_S71C,Missense_S71C exm2231613 1 160719809 [C/G] NM_021181,NM_001282589,NM_001282591,NM_001282593,NM_001282590,NM_001282592,NM_001282595,NM_001282588,NM_001282596,NM_001282594 SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7 EXON Missense_T192S,Silent,Missense_T85S,Missense_T85S,Missense_T85S,Missense_T192S,Missense_T58S,Silent,Missense_T85S,Missense_T85S exm116369 1 160719843 [A/C] NM_021181,NM_001282589,NM_001282591,NM_001282593,NM_001282590,NM_001282592,NM_001282595,NM_001282588,NM_001282596,NM_001282594 SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7 EXON Missense_R203S,Silent,Missense_R96S,Missense_R96S,Missense_R96S,Missense_R203S,Missense_R69S,Silent,Missense_R96S,Missense_R96S exm116374 1 160720107 [A/C] NM_021181,NM_001282589,NM_001282591,NM_001282593,NM_001282590,NM_001282592,NM_001282595,NM_001282588,NM_001282596,NM_001282594 SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7 EXON Missense_D221E,Silent,Silent,Silent,Missense_D114E,Missense_D221E,Missense_D87E,Silent,Missense_D114E,Missense_D127E exm116378 1 160720143 [T/G] NM_021181,NM_001282589,NM_001282591,NM_001282593,NM_001282590,NM_001282592,NM_001282595,NM_001282588,NM_001282596,NM_001282594 SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7 EXON Missense_L233F,Silent,Silent,Silent,Missense_L126F,Missense_L233F,Missense_L99F,Silent,Missense_L126F,Missense_L139F variant.7905 1 160720187 [A/G] NM_021181,NM_001282589,NM_001282591,NM_001282593,NM_001282590,NM_001282592,NM_001282595,NM_001282588,NM_001282596,NM_001282594 SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7 EXON Nonsense_W248X,Silent,Silent,Silent,Nonsense_W141X,Nonsense_W248X,Nonsense_W114X,Silent,Nonsense_W141X,Nonsense_W154X exm116385 1 160721161 [A/G] NM_021181,NM_001282589,NM_001282591,NM_001282593,NM_001282590,NM_001282592,NM_001282595,NM_001282588,NM_001282596,NM_001282594 SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7 EXON Missense_D266N,Missense_D135N,Missense_D119N,Silent,Missense_D159N,Silent,Missense_D132N,Silent,Silent,Missense_D172N exm116386 1 160721162 [A/G] NM_021181,NM_001282589,NM_001282591,NM_001282593,NM_001282590,NM_001282592,NM_001282595,NM_001282588,NM_001282596,NM_001282594 SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7 EXON Missense_D266G,Missense_D135G,Missense_D119G,Silent,Missense_D159G,Silent,Missense_D132G,Silent,Silent,Missense_D172G exm116387 1 160721170 [T/C] NM_021181,NM_001282589,NM_001282591,NM_001282593,NM_001282590,NM_001282592,NM_001282595,NM_001282588,NM_001282596,NM_001282594 SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7 EXON Missense_R269W,Missense_R138W,Missense_R122W,Silent,Missense_R162W,Silent,Missense_R135W,Silent,Silent,Missense_R175W exm2231614 1 160722007 [T/C] NM_021181,NM_001282589,NM_001282591,NM_001282593,NM_001282590,NM_001282592,NM_001282595,NM_001282588,NM_001282596,NM_001282594 SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7 EXON Missense_T302M,Missense_T171M,Missense_T155M,Synonymous_Y120Y,Missense_T195M,Synonymous_Y267Y,Missense_T168M,Synonymous_Y136Y,Synonymous_Y160Y,Missense_T208M rs489286 1 160722550 [A/G] NM_021181,NM_001282589,NM_001282591,NM_001282593,NM_001282590,NM_001282592,NM_001282595,NM_001282588,NM_001282596,NM_001282594 SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm116394 1 160722900 [A/C] NM_021181,NM_001282589,NM_001282591,NM_001282593,NM_001282590,NM_001282592,NM_001282595,NM_001282588,NM_001282596,NM_001282594 SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7,SLAMF7 EXON Missense_E314A,Missense_E183A,Missense_E167A,Synonymous_G132G,Missense_E207A,Synonymous_G279G,Missense_E180A,Synonymous_G148G,Synonymous_G172G,Missense_E220A rs528095 1 160738146 [T/C] rs11265485 1 160764759 [T/C] indel.7908 1 160766064 [D/I] NM_001033667,NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9,LY9 EXON rs3904492 1 160766925 [T/C] NM_001033667,NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9,LY9 Silent,Silent,Silent,Silent exm116404 1 160769567 [A/C] NM_001033667,NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9,LY9 EXON Nonsense_S50X,Nonsense_S50X,Nonsense_S50X,Nonsense_S50X exm116412 1 160769636 [T/C] NM_001033667,NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9,LY9 EXON Missense_T73I,Missense_T73I,Missense_T73I,Missense_T73I exm1723226 1 160769650 [A/G] NM_001033667,NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9,LY9 EXON Missense_V78I,Missense_V78I,Missense_V78I,Missense_V78I exm116415 1 160769666 [T/C] NM_001033667,NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9,LY9 EXON Missense_P83L,Missense_P83L,Missense_P83L,Missense_P83L exm116416 1 160769670 [T/A] NM_001033667,NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9,LY9 EXON Missense_K84N,Missense_K84N,Missense_K84N,Missense_K84N exm116417 1 160769690 [A/G] NM_001033667,NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9,LY9 EXON Missense_R91H,Missense_R91H,Missense_R91H,Missense_R91H newrs12049314 1 160769734 [T/C] NM_001033667,NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9,LY9 EXON Nonsense_R106X,Nonsense_R106X,Nonsense_R106X,Nonsense_R106X exm116418 1 160769735 [A/G] NM_001033667,NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9,LY9 EXON Missense_R106Q,Missense_R106Q,Missense_R106Q,Missense_R106Q exm116422 1 160769866 [A/G] NM_001033667,NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9,LY9 EXON Missense_V150I,Missense_V150I,Missense_V150I,Missense_V150I rs4656932 1 160779495 [A/G] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 Silent,Silent,Silent indel.7911 1 160783529 [I/D] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON exm116437 1 160783557 [A/C] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON Missense_P196T,Missense_P196T,Missense_P196T exm116442 1 160783603 [A/G] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON Missense_R211Q,Missense_R211Q,Missense_R211Q exm116443 1 160783621 [A/C] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON Missense_D217A,Missense_D217A,Missense_D217A exm1723269 1 160783678 [T/C] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON Missense_V236A,Missense_V236A,Missense_V236A exm116452 1 160784287 [A/G] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON Missense_A270T,Missense_A270T,Missense_A270T exm116453 1 160784302 [T/C] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON Missense_R275W,Missense_R275W,Missense_R275W exm1723273 1 160784494 [A/G] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON Missense_V339M,Missense_V339M,Missense_V339M exm116461 1 160784549 [A/T] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON Missense_Y357F,Missense_Y357F,Missense_Y357F exm116462 1 160784551 [T/C] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON Missense_R358C,Nonsense_R358X,Missense_R358C exm116465 1 160786385 [T/C] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON Synonymous_R358R,Silent,Synonymous_R358R exm116471 1 160786464 [A/G] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON Missense_V385M,Silent,Missense_V385M exm1723279 1 160786549 [A/G] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON Missense_N413S,Silent,Missense_N413S rs560681 1 160786670 [A/G] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 Silent,Silent,Silent exm116483 1 160788067 [A/G] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON Missense_V468I,Missense_V378I,Missense_V468I exm116484 1 160788068 [T/C] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON Missense_V468A,Missense_V378A,Missense_V468A exm116486 1 160788097 [T/C] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON Nonsense_R478X,Nonsense_R388X,Nonsense_R478X indel.7915 1 160788099 [I/D] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON rs3817407 1 160788131 [T/C] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 Silent,Silent,Silent rs571841 1 160791411 [T/C] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 Silent,Silent,Silent rs2779800 1 160792659 [A/G] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 Silent,Silent,Silent exm116496 1 160793293 [T/C] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON Nonsense_Q513X,Nonsense_Q423X,Silent exm116509 1 160793560 [A/G] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON Missense_M602V,Missense_M512V,Missense_M588V exm116520 1 160797604 [T/G] NM_002348,NM_001261457,NM_001261456 LY9,LY9,LY9 EXON Missense_X656G,Missense_X566G,Missense_X642G exm116527 1 160801162 [A/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_L266R,Missense_L358R,Missense_L363R exm116528 1 160801172 [A/G] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_R263C,Missense_R355C,Missense_R360C newrs138354575 1 160801181 [A/G] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Nonsense_R260X,Nonsense_R352X,Nonsense_R357X variant.7919 1 160801214 [A/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Nonsense_G249X,Nonsense_G341X,Nonsense_G346X exm116531 1 160801214 [A/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Nonsense_G249X,Nonsense_G341X,Nonsense_G346X exm1723306 1 160802314 [T/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_E246K,Missense_E338K,Missense_E343K variant.7921 1 160803836 [T/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 Silent,Silent,Silent exm116537 1 160803848 [A/G] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_S226F,Missense_S318F,Missense_S323F exm1723312 1 160806025 [A/G] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_P193L,Missense_P285L,Missense_P290L exm2268771 1 160807715 [T/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 Silent,Silent,Silent rs3766379 1 160807715 [T/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 Silent,Silent,Silent exm116556 1 160808810 [T/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_I137V,Missense_I229V,Missense_I234V rs6671710 1 160809285 [A/G] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 Silent,Silent,Silent exm1723320 1 160811001 [A/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Silent,Missense_Q218H,Missense_Q223H exm116561 1 160811120 [A/G] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Silent,Missense_Y179H,Missense_Y184H exm116564 1 160811374 [G/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_E127Q,Missense_D127H,Missense_E127Q exm116565 1 160811488 [T/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_N89D,Missense_N89D,Missense_N89D exm116569 1 160811558 [C/G] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_H65Q,Missense_H65Q,Missense_H65Q exm116571 1 160811621 [T/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_I44M,Missense_I44M,Missense_I44M exm116574 1 160811647 [A/G] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_P36S,Missense_P36S,Missense_P36S rs549565 1 160816942 [A/G] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 Silent,Silent,Silent rs12038600 1 160828602 [T/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 Silent,Silent,Silent exm116583 1 160832463 [A/C] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Missense_L2R,Missense_L2R,Missense_L2R rs12036607 1 160832646 [A/G] NM_001166664,NM_016382,NM_001166663 CD244,CD244,CD244 EXON Silent,Silent,Silent rs4656945 1 160838107 [T/C] rs4656947 1 160840298 [T/C] rs1333062 1 160846284 [T/G] exm116587 1 160846458 [C/G] NM_017625 ITLN1 EXON Missense_R313P exm1723340 1 160846462 [A/G] NM_017625 ITLN1 EXON Missense_Y312H exm116594 1 160849101 [A/G] NM_017625 ITLN1 EXON Synonymous_H263H exm116599 1 160850377 [T/C] NM_017625 ITLN1 Silent exm116604 1 160850417 [T/C] NM_017625 ITLN1 EXON Missense_A216T exm116607 1 160850449 [A/G] NM_017625 ITLN1 EXON Missense_P205L exm116614 1 160850944 [A/C] NM_017625 ITLN1 EXON Missense_Q188H newrs148939374 1 160850944 [A/C] NM_017625 ITLN1 EXON Missense_Q188H exm116618 1 160850999 [T/C] NM_017625 ITLN1 EXON Missense_R170H exm1723352 1 160851047 [T/C] NM_017625 ITLN1 EXON Missense_N154S exm116627 1 160851763 [A/G] NM_017625 ITLN1 EXON Missense_T130M exm1723360 1 160851967 [T/C] NM_017625 ITLN1 EXON Missense_N62S exm116648 1 160851977 [A/G] NM_017625 ITLN1 EXON Missense_R59C exm-rs2274910 1 160852046 [T/C] NM_017625 ITLN1 Silent exm116654 1 160853247 [T/G] NM_017625 ITLN1 EXON Missense_E43A rs2039415 1 160854445 [T/C] NM_017625 ITLN1 Silent variant.7929 1 160854618 [T/C] NM_017625 ITLN1 EXON Nonsense_W17X indel.7930 1 160854663 [I/D] NM_017625 ITLN1 EXON rs10908810 1 160876923 [A/G] rs11265519 1 160878913 [A/C] rs4656279 1 160886294 [A/G] rs11265524 1 160892144 [A/C] rs10908813 1 160895847 [A/G] rs6701920 1 160914917 [A/G] NR_110695,NM_080878 LOC101928372,ITLN2 EXON Silent,Silent exm116662 1 160914970 [T/C] NR_110695,NM_080878 LOC101928372,ITLN2 EXON Silent,Missense_R313Q exm116665 1 160915019 [T/C] NR_110695,NM_080878 LOC101928372,ITLN2 EXON Silent,Missense_A297T exm116666 1 160915037 [A/G] NR_110695,NM_080878 LOC101928372,ITLN2 EXON Silent,Nonsense_Q291X exm116674 1 160917765 [T/C] NR_110695,NM_080878 LOC101928372,ITLN2 EXON Silent,Missense_N260S exm116676 1 160917792 [T/C] NR_110695,NM_080878 LOC101928372,ITLN2 EXON Silent,Missense_R251Q rs1556519 1 160917902 [T/C] NR_110695,NM_080878 LOC101928372,ITLN2 Silent,Silent variant.7932 1 160919835 [T/C] NM_080878 ITLN2 Silent variant.7933 1 160919836 [T/G] NM_080878 ITLN2 EXON Synonymous_R241R exm116678 1 160919847 [A/G] NM_080878 ITLN2 EXON Missense_P237L exm116682 1 160919952 [T/C] NM_080878 ITLN2 EXON Missense_Y202C exm116692 1 160920431 [T/C] NM_080878 ITLN2 EXON Missense_Q171R exm116693 1 160920441 [A/G] NM_080878 ITLN2 EXON Missense_S168P exm116701 1 160920846 [T/C] NM_080878 ITLN2 EXON Missense_S143N exm116704 1 160920856 [T/C] NM_080878 ITLN2 EXON Missense_A140T exm116719 1 160921062 [T/C] NM_080878 ITLN2 EXON Missense_R71H rs4656971 1 160921230 [T/G] NM_080878 ITLN2 Silent exm116727 1 160922421 [T/G] NM_080878 ITLN2 EXON Missense_H61P exm116737 1 160924178 [T/C] NM_080878 ITLN2 EXON Synonymous_A26A rs2255852 1 160927045 [T/C] rs1999248 1 160927727 [T/G] rs12403334 1 160937964 [A/G] rs2250174 1 160950966 [T/C] rs12140181 1 160959844 [T/C] exm2273340 1 160968609 [A/G] NM_001348091,NM_016946 F11R,F11R EXON Silent,Silent exm116750 1 160968873 [T/C] NM_001348091,NM_016946 F11R,F11R EXON Missense_S226N,Missense_S275N variant.7935 1 160969181 [A/C] NM_001348091,NM_016946 F11R,F11R Silent,Silent exm116756 1 160969444 [T/C] NM_001348091,NM_016946 F11R,F11R EXON Missense_R214Q,Missense_R263Q exm116763 1 160969677 [T/C] NM_001348091,NM_016946 F11R,F11R EXON Missense_R179H,Missense_R228H exm116765 1 160969752 [A/G] NM_001348091,NM_016946 F11R,F11R EXON Missense_S154L,Missense_S203L exm116776 1 160970085 [A/G] NM_001348091,NM_016946 F11R,F11R EXON Missense_R99W,Missense_R148W exm2250066 1 160970089 [T/C] NM_001348091,NM_016946 F11R,F11R EXON Synonymous_G97G,Synonymous_G146G exm116780 1 160970427 [T/C] NM_001348091,NM_016946 F11R,F11R EXON Silent,Missense_V128M exm116783 1 160970508 [A/G] NM_001348091,NM_016946 F11R,F11R EXON Silent,Missense_R101W exm116784 1 160970535 [T/C] NM_001348091,NM_016946 F11R,F11R EXON Silent,Missense_T92A variant.7940 1 160971074 [T/C] NM_001348091,NM_016946 F11R,F11R Silent,Silent variant.7941 1 160971075 [A/G] NM_001348091,NM_016946 F11R,F11R EXON Missense_P45S,Missense_P45S rs2481084 1 160989614 [T/C] NM_001348091,NM_016946 F11R,F11R Silent,Silent variant.7942 1 160990799 [T/C] NM_001348091,NM_016946 F11R,F11R Silent,Silent rs11265544 1 161006019 [A/C] exm2273341 1 161009523 [A/G] NM_001276373,NM_007122,NM_207005 USF1,USF1,USF1 EXON Silent,Silent,Silent rs3737787 1 161009523 [A/G] NM_001276373,NM_007122,NM_207005 USF1,USF1,USF1 EXON Silent,Silent,Silent variant.7943 1 161011114 [A/G] NM_001276373,NM_007122,NM_207005 USF1,USF1,USF1 EXON Missense_P187L,Missense_P187L,Missense_P128L exm116850 1 161011931 [T/G] NM_001276373,NM_007122,NM_207005 USF1,USF1,USF1 EXON Missense_Y84S,Missense_Y84S,Missense_Y25S exm116857 1 161012448 [T/G] NM_001276373,NM_007122,NM_207005 USF1,USF1,USF1 EXON Missense_T24N,Missense_T24N,Silent rs2073653 1 161012760 [T/C] NM_001276373,NM_007122,NM_207005 USF1,USF1,USF1 Silent,Silent,Silent rs2516837 1 161014727 [A/G] NM_001276373,NM_007122,NM_207005 USF1,USF1,USF1 EXON Silent,Silent,Silent exm116882 1 161017761 [T/C] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_R806Q,Missense_R840Q,Missense_R869Q,Missense_R1017Q exm116883 1 161017765 [A/G] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_R805W,Missense_R839W,Missense_R868W,Missense_R1016W exm116885 1 161017791 [T/C] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_R796H,Missense_R830H,Missense_R859H,Missense_R1007H exm116894 1 161018009 [T/G] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Synonymous_V723V,Synonymous_V757V,Synonymous_V786V,Synonymous_V934V exm2250068 1 161018009 [T/G] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Synonymous_V723V,Synonymous_V757V,Synonymous_V786V,Synonymous_V934V exm116902 1 161018214 [T/C] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Silent,Missense_G689D,Missense_G718D,Missense_G866D exm116903 1 161018224 [T/C] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Silent,Missense_E686K,Missense_E715K,Missense_E863K exm116906 1 161018268 [T/C] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Silent,Missense_D671G,Missense_D700G,Missense_D848G exm116909 1 161018392 [A/G] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Silent,Missense_Y630H,Missense_Y659H,Missense_Y807H exm116910 1 161018422 [C/G] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Silent,Missense_D620H,Missense_D649H,Missense_D797H indel.7947 1 161018566 [I/D] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON exm116916 1 161018590 [T/C] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Silent,Missense_E564K,Missense_E593K,Missense_E741K exm116917 1 161018598 [T/C] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Silent,Missense_G561E,Missense_G590E,Missense_G738E exm116924 1 161018880 [C/G] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_A644G,Missense_A467G,Missense_A496G,Missense_A644G exm116925 1 161018896 [T/C] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_G639R,Missense_G462R,Missense_G491R,Missense_G639R exm116933 1 161019040 [C/G] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_L591V,Missense_L414V,Missense_L443V,Missense_L591V exm116934 1 161019057 [A/G] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_A585V,Missense_A408V,Missense_A437V,Missense_A585V exm116935 1 161019102 [A/G] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_P570L,Missense_P393L,Missense_P422L,Missense_P570L exm116948 1 161021106 [A/G] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_P473L,Missense_P296L,Missense_P325L,Missense_P473L exm116965 1 161021430 [A/G] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_I365T,Missense_I188T,Missense_I217T,Missense_I365T exm116966 1 161021437 [T/C] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_D363N,Missense_D186N,Missense_D215N,Missense_D363N exm116970 1 161021479 [T/C] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_S349G,Missense_S172G,Missense_S201G,Missense_S349G exm116971 1 161021490 [A/C] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_V345G,Missense_V168G,Missense_V197G,Missense_V345G exm116972 1 161021491 [T/C] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_V345M,Missense_V168M,Missense_V197M,Missense_V345M exm116992 1 161022560 [A/G] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_S231L,Missense_S54L,Missense_S83L,Missense_S231L exm116998 1 161023074 [T/C] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_Q213R,Missense_Q36R,Missense_Q65R,Missense_Q213R exm117001 1 161023090 [A/G] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_L208F,Missense_L31F,Missense_L60F,Missense_L208F exm117002 1 161023102 [T/C] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_V204M,Missense_V27M,Missense_V56M,Missense_V204M exm117007 1 161024455 [T/C] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_K129R,Silent,Silent,Missense_K129R exm117011 1 161026285 [A/G] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 EXON Missense_R80W,Silent,Silent,Missense_R80W rs10797092 1 161037042 [A/C] NM_181720,NM_001287602,NM_001287600,NM_001025598 ARHGAP30,ARHGAP30,ARHGAP30,ARHGAP30 Silent,Silent,Silent,Silent exm117027 1 161042515 [A/C] NM_030916 NECTIN4 EXON Missense_G490V exm117029 1 161042519 [T/C] NM_030916 NECTIN4 EXON Missense_N489D exm117034 1 161042597 [G/C] NM_030916 NECTIN4 EXON Missense_P463A exm117036 1 161042644 [A/G] NM_030916 NECTIN4 EXON Missense_T447M exm117037 1 161042657 [A/G] NM_030916 NECTIN4 EXON Missense_R443C exm2250070 1 161043087 [T/C] NM_030916 NECTIN4 EXON Synonymous_P412P exm2250071 1 161043564 [C/G] NM_030916 NECTIN4 EXON Synonymous_T393T rs4656978 1 161043764 [A/G] NM_030916 NECTIN4 Silent exm117048 1 161044035 [A/G] NM_030916 NECTIN4 EXON Missense_R377C exm117056 1 161044125 [A/G] NM_030916 NECTIN4 EXON Missense_S347P variant.7957 1 161044422 [A/G] NM_030916 NECTIN4 EXON Nonsense_Q327X exm117068 1 161044549 [A/C] NM_030916 NECTIN4 EXON Synonymous_R284R exm117070 1 161046218 [A/G] NM_030916 NECTIN4 EXON Missense_H260Y exm117079 1 161049383 [T/G] NM_030916 NECTIN4 EXON Missense_L146M exm117084 1 161049499 [A/G] NM_030916 NECTIN4 EXON Missense_P107L exm117086 1 161049509 [T/G] NM_030916 NECTIN4 EXON Missense_P104T exm117092 1 161049643 [T/C] NM_030916 NECTIN4 EXON Missense_G59D exm117094 1 161049662 [A/G] NM_030916 NECTIN4 EXON Missense_F53L exm117101 1 161068365 [C/G] NR_033386,NR_033385,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_G14R,Missense_G14R exm117103 1 161068428 [A/G] NR_033386,NR_033385,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_E35K,Missense_E35K exm2273712 1 161068441 [A/G] NR_033386,NR_033385,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_R39Q,Missense_R39Q exm117112 1 161068749 [A/G] NR_033386,NR_033385,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_D142N,Missense_D142N exm117119 1 161068836 [A/C] NR_033386,NR_033385,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_S171R,Missense_S171R exm117127 1 161069277 [A/G] NR_033386,NR_033385,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Nonsense_W223X,Nonsense_W223X exm117130 1 161069446 [T/G] NR_033386,NR_033385,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_G249V,Missense_W255C variant.7964 1 161069526 [A/G] NR_033386,NR_033385,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_G276R,Nonsense_W282X variant.7965 1 161069529 [T/G] NR_033386,NR_033385,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Nonsense_E277X,Missense_R283I exm117135 1 161069544 [A/G] NR_033386,NR_033385,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_A282T,Missense_S288N exm117137 1 161069587 [G/C] NR_033386,NR_033385,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 Silent,Silent,Silent,Silent variant.7967 1 161069849 [A/G] NR_033386,NR_033385,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 Silent,Silent,Silent,Silent exm117138 1 161069881 [T/C] NR_033386,NR_033385,NM_152366,NM_001007255 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_P306L,Silent exm117143 1 161070525 [T/C] NM_012394 PFDN2 EXON Missense_N138S exm117154 1 161072149 [T/C] NM_012394 PFDN2 EXON Missense_N31S rs4233365 1 161074601 [A/G] NM_012394 PFDN2 Silent rs11265554 1 161084007 [T/C] NM_012394 PFDN2 Silent newrs76502631 1 161088000 [A/G] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Silent,Silent,Silent,Silent exm117171 1 161088668 [T/C] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Missense_P32L,Missense_P32L,Silent,Silent exm117175 1 161088936 [A/G] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Missense_M37I,Missense_M37I,Missense_M22I,Missense_M1I indel.7973 1 161089151 [I/D] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON exm117182 1 161089340 [A/G] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Missense_R132H,Missense_R132H,Missense_R117H,Missense_R96H exm117188 1 161089650 [A/G] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Missense_V167I,Missense_V167I,Missense_V152I,Missense_V131I variant.7974 1 161089665 [T/C] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Nonsense_Q172X,Nonsense_Q172X,Nonsense_Q157X,Nonsense_Q136X exm117190 1 161089669 [T/G] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Missense_G173V,Missense_G173V,Missense_G158V,Missense_G137V exm117197 1 161089996 [A/T] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Missense_S231T,Missense_S231T,Missense_S216T,Missense_S195T exm117198 1 161089997 [C/G] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Missense_S231C,Missense_S231C,Missense_S216C,Missense_S195C exm117206 1 161090422 [A/G] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Silent,Missense_R284H,Missense_R269H,Missense_R248H exm117209 1 161090467 [A/G] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Silent,Missense_N299S,Missense_N284S,Missense_N263S exm117225 1 161093651 [G/C] NM_001185092,NM_001039711,NM_032998,NM_001039712,NM_001330765 NIT1,DEDD,DEDD,DEDD,DEDD EXON Silent,Missense_R137S,Missense_R137S,Missense_R137S,Missense_R137S exm117231 1 161094170 [T/C] NM_001185092,NM_001039711,NM_032998,NM_001039712,NM_001330765 NIT1,DEDD,DEDD,DEDD,DEDD EXON Silent,Missense_R28H,Missense_R28H,Missense_R28H,Missense_R28H exm117236 1 161094248 [A/G] NM_001185092,NM_001039711,NM_032998,NM_001039712,NM_001330765 NIT1,DEDD,DEDD,DEDD,DEDD EXON Silent,Missense_A2V,Missense_A2V,Missense_A2V,Missense_A2V rs11589567 1 161116022 [T/G] exm117240 1 161123804 [T/C] NM_016406 UFC1 EXON Missense_T6M var_1_161126779 1 161126779 [T/C] NM_016406 UFC1 EXON Nonsense_R55X exm117249 1 161126806 [T/C] NM_016406 UFC1 EXON Missense_R64W exm117254 1 161127099 [A/G] NM_016406 UFC1 EXON Missense_E83K exm117255 1 161127107 [T/C] NM_016406 UFC1 EXON Synonymous_D85D exm117258 1 161127417 [T/C] NM_016406 UFC1 EXON Missense_T89I indel.7983 1 161127945 [D/I] NM_016406 UFC1 EXON exm117272 1 161130453 [A/G] NM_001319848,NM_001319847,NM_001014443,NM_012475 USP21,USP21,USP21,USP21 EXON Missense_R8H,Missense_R37H,Missense_R8H,Missense_R8H exm1723913 1 161130579 [A/G] NM_001319848,NM_001319847,NM_001014443,NM_012475 USP21,USP21,USP21,USP21 EXON Missense_R50Q,Missense_R79Q,Missense_R50Q,Missense_R50Q exm117280 1 161130638 [T/C] NM_001319848,NM_001319847,NM_001014443,NM_012475 USP21,USP21,USP21,USP21 EXON Missense_R70W,Missense_R99W,Missense_R70W,Missense_R70W exm117300 1 161131024 [T/C] NM_001319848,NM_001319847,NM_001014443,NM_012475 USP21,USP21,USP21,USP21 EXON Synonymous_D198D,Synonymous_D227D,Synonymous_D198D,Synonymous_D198D exm2250073 1 161131024 [T/C] NM_001319848,NM_001319847,NM_001014443,NM_012475 USP21,USP21,USP21,USP21 EXON Synonymous_D198D,Synonymous_D227D,Synonymous_D198D,Synonymous_D198D exm117306 1 161132779 [T/C] NM_001319848,NM_001319847,NM_001014443,NM_012475 USP21,USP21,USP21,USP21 EXON Missense_R322C,Missense_R351C,Missense_R322C,Missense_R322C exm117311 1 161132827 [T/C] NM_001319848,NM_001319847,NM_001014443,NM_012475 USP21,USP21,USP21,USP21 EXON Missense_R338C,Missense_R367C,Missense_R338C,Missense_R338C exm117312 1 161133373 [A/G] NM_001319848,NM_001319847,NM_001014443,NM_012475 USP21,USP21,USP21,USP21 EXON Missense_K360E,Missense_K389E,Missense_K360E,Missense_K360E variant.7985 1 161134333 [T/C] NM_001319848,NM_001319847,NM_001014443,NM_012475 USP21,USP21,USP21,USP21 EXON Nonsense_R439X,Nonsense_R468X,Nonsense_R439X,Nonsense_R439X variant.7986 1 161134375 [T/C] NM_001319848,NM_001319847,NM_001014443,NM_012475 USP21,USP21,USP21,USP21 EXON Nonsense_Q453X,Nonsense_Q482X,Nonsense_Q453X,Nonsense_Q453X exm1723952 1 161136705 [A/G] NM_000309,NM_001350130,NM_001350131,NM_001350128,NM_001350129,NM_001122764 PPOX,PPOX,PPOX,PPOX,PPOX,PPOX EXON Missense_R23Q,Silent,Silent,Missense_R23Q,Silent,Missense_R23Q exm117365 1 161138907 [T/G] NM_000309,NM_001350130,NM_001350131,NM_001350128,NM_001350129,NM_001122764 PPOX,PPOX,PPOX,PPOX,PPOX,PPOX EXON Missense_R247S,Missense_R85S,Missense_R85S,Missense_R214S,Missense_R111S,Missense_R247S exm117368 1 161138933 [G/C] NM_000309,NM_001350130,NM_001350131,NM_001350128,NM_001350129,NM_001122764 PPOX,PPOX,PPOX,PPOX,PPOX,PPOX EXON Missense_P256R,Missense_P94R,Missense_P94R,Missense_P223R,Missense_P120R,Missense_P256R exm117377 1 161139738 [A/G] NM_000309,NM_001350130,NM_001350131,NM_001350128,NM_001350129,NM_001122764 PPOX,PPOX,PPOX,PPOX,PPOX,PPOX EXON Missense_R304H,Missense_R142H,Missense_R142H,Missense_R271H,Missense_R168H,Missense_R304H variant.7993 1 161140754 [T/C] NM_000309,NM_001350130,NM_001350131,NM_001350128,NM_001350129,NM_001122764 PPOX,PPOX,PPOX,PPOX,PPOX,PPOX Silent,Silent,Silent,Silent,Silent,Silent variant.7994 1 161141620 [A/G] NM_001199873,NM_003779,NM_001199874 B4GALT3,B4GALT3,B4GALT3 EXON Nonsense_R390X,Nonsense_R390X,Nonsense_R390X 1KG_1_161141636 1 161141636 [D/I] NM_001199873,NM_003779,NM_001199874 B4GALT3,B4GALT3,B4GALT3 EXON exm117409 1 161141673 [T/C] NM_001199873,NM_003779,NM_001199874 B4GALT3,B4GALT3,B4GALT3 EXON Missense_R372H,Missense_R372H,Missense_R372H exm117411 1 161141691 [T/C] NM_001199873,NM_003779,NM_001199874 B4GALT3,B4GALT3,B4GALT3 EXON Missense_R366H,Missense_R366H,Missense_R366H exm117422 1 161143440 [T/C] NM_001199873,NM_003779,NM_001199874 B4GALT3,B4GALT3,B4GALT3 EXON Missense_N253S,Missense_N253S,Missense_N253S exm117424 1 161143685 [T/C] NM_001199873,NM_003779,NM_001199874 B4GALT3,B4GALT3,B4GALT3 EXON Missense_R215H,Missense_R215H,Missense_R215H exm117440 1 161144965 [T/C] NM_001199873,NM_003779,NM_001199874 B4GALT3,B4GALT3,B4GALT3 EXON Missense_E103K,Missense_E103K,Missense_E103K exm117444 1 161145627 [A/G] NM_001199873,NM_003779,NM_001199874 B4GALT3,B4GALT3,B4GALT3 EXON Missense_P75L,Missense_P75L,Missense_P75L exm2250074 1 161145653 [A/C] NM_001199873,NM_003779,NM_001199874 B4GALT3,B4GALT3,B4GALT3 EXON Synonymous_G66G,Synonymous_G66G,Synonymous_G66G exm117449 1 161145691 [T/C] NM_001199873,NM_003779,NM_001199874 B4GALT3,B4GALT3,B4GALT3 EXON Missense_V54I,Missense_V54I,Missense_V54I variant.7997 1 161145733 [A/G] NM_001199873,NM_003779,NM_001199874 B4GALT3,B4GALT3,B4GALT3 EXON Nonsense_R40X,Nonsense_R40X,Nonsense_R40X rs17392570 1 161147771 [A/G] rs4233366 1 161159147 [T/C] exm117465 1 161160956 [T/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_R829Q,Synonymous_S775S exm117467 1 161160983 [T/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_R820Q,Synonymous_P766P exm117469 1 161161016 [A/G] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_T809M,Synonymous_N755N exm2231645 1 161161058 [T/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_R795H,Synonymous_T741T exm117474 1 161161170 [T/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_S758G,Missense_Q704R exm117476 1 161161275 [G/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_R723G,Silent exm117478 1 161161284 [G/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_P720A,Silent exm2250075 1 161161351 [A/G] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Synonymous_Y697Y,Silent exm117489 1 161163004 [T/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_R637Q,Missense_R637Q exm117490 1 161163037 [T/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_Q626R,Missense_Q626R exm117491 1 161163038 [A/G] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Nonsense_Q626X,Nonsense_Q626X exm117495 1 161163088 [T/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_R609H,Missense_R609H exm117501 1 161163439 [T/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_T576A,Missense_T576A exm117504 1 161163466 [A/G] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_R567C,Missense_R567C exm117505 1 161163477 [T/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_R563H,Missense_R563H exm117512 1 161163754 [A/G] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_L507F,Missense_L507F exm117516 1 161163786 [G/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_G496A,Missense_G496A exm1724023 1 161163879 [A/G] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_P465L,Missense_P465L exm117524 1 161163933 [A/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_R447L,Missense_R447L exm117526 1 161165263 [T/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_N418S,Missense_N418S exm117530 1 161165318 [G/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_P400A,Missense_P400A exm117531 1 161165353 [T/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_R388H,Missense_R388H exm117535 1 161165424 [A/G] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Synonymous_G364G,Synonymous_G364G exm117537 1 161166029 [A/G] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_P341L,Missense_P341L variant.8004 1 161166325 [A/G] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 Silent,Silent exm117543 1 161166382 [C/G] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_D308H,Missense_D308H exm117551 1 161166610 [T/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_A232T,Missense_A232T exm117552 1 161166633 [A/G] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_V224A,Missense_V224A rs4589131 1 161167698 [T/G] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 Silent,Silent exm117559 1 161167981 [T/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_G146E,Missense_G146E exm1724040 1 161168074 [A/G] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_A115V,Missense_A115V exm117564 1 161168105 [T/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_E105K,Missense_E105K exm117565 1 161168120 [A/G] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_S100P,Missense_S100P exm117566 1 161168135 [T/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_E95K,Missense_E95K exm117567 1 161168147 [T/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_T91A,Missense_T91A exm117569 1 161168167 [T/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_R84H,Missense_R84H exm117571 1 161168188 [A/G] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_A77V,Missense_A77V exm117572 1 161168189 [T/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_A77T,Missense_A77T exm1724043 1 161168201 [G/C] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_P73A,Missense_P73A exm117577 1 161168270 [A/G] NM_005099,NM_001320336 ADAMTS4,ADAMTS4 EXON Missense_R50W,Missense_R50W exm117587 1 161172233 [A/C] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_P20T,Missense_P20T rs4656993 1 161176137 [A/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 Silent,Silent variant.8007 1 161179385 [A/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Synonymous_K209K,Synonymous_K209K variant.8008 1 161179665 [T/C] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Nonsense_R216X,Nonsense_R216X exm117628 1 161180389 [T/C] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_M292T,Missense_M292T exm117631 1 161180473 [T/C] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_V320A,Missense_V320A exm117633 1 161180482 [A/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_R323Q,Missense_R323Q newrs35086265 1 161180482 [A/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_R323Q,Missense_R323Q newrs150981760 1 161182152 [A/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_R333Q,Missense_R333Q exm117637 1 161182208 [C/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_P352A,Missense_P352A exm117639 1 161183191 [C/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_H380D,Missense_H380D exm117641 1 161183265 [A/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Synonymous_K404K,Synonymous_K404K newrs145959971 1 161183265 [A/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Synonymous_K404K,Synonymous_K404K variant.8014 1 161183487 [T/C] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Nonsense_R421X,Nonsense_R421X exm117646 1 161183502 [T/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_A426S,Missense_A426S exm1724078 1 161183681 [T/C] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_H442Y,Missense_H442Y newrs190184430 1 161183716 [A/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Silent,Synonymous_T453T kgp25229862 1 161185124 [A/G] NM_004106 FCER1G EXON Missense_V5M exm1724093 1 161187790 [A/C] NM_004106 FCER1G EXON Missense_P22T exm1724095 1 161187847 [T/C] NM_004106 FCER1G EXON Missense_L41F indel.8017 1 161188715 [D/I] NM_004106 FCER1G EXON kgp9127248 1 161188893 [T/G] NM_004106 FCER1G EXON Silent GA019608 1 161189036 [A/C] NM_004106 FCER1G EXON Silent kgp15660894 1 161192251 [A/G] NM_001643 APOA2 EXON Synonymous_L83L exm117689 1 161192772 [T/C] NM_001643 APOA2 EXON Missense_V41M rs5082 1 161193683 [A/G] kgp5676881 1 161196166 [A/C] NM_001286373,NM_032174,NM_001286374 TOMM40L,TOMM40L,TOMM40L EXON Silent,Silent,Silent exm117709 1 161197734 [A/C] NM_001286373,NM_032174,NM_001286374 TOMM40L,TOMM40L,TOMM40L EXON Missense_T113P,Missense_T147P,Missense_T82P exm117715 1 161198021 [T/G] NM_001286373,NM_032174,NM_001286374 TOMM40L,TOMM40L,TOMM40L EXON Missense_V143G,Missense_V177G,Missense_V112G kgp15359363 1 161198097 [C/G] NM_001286373,NM_032174,NM_001286374 TOMM40L,TOMM40L,TOMM40L EXON Synonymous_S168S,Synonymous_S202S,Synonymous_S137S exm117728 1 161198530 [T/C] NM_001286373,NM_032174,NM_001286374 TOMM40L,TOMM40L,TOMM40L EXON Missense_A203V,Missense_A237V,Missense_A172V exm117729 1 161198605 [C/G] NM_001286373,NM_032174,NM_001286374 TOMM40L,TOMM40L,TOMM40L EXON Missense_R228T,Missense_R262T,Missense_R197T kgp15633823 1 161199028 [T/C] NM_001286373,NM_032174,NM_001286374 TOMM40L,TOMM40L,TOMM40L EXON Silent,Silent,Silent kgp24850470 1 161199175 [A/G] NM_001286373,NM_032174,NM_001286374 TOMM40L,TOMM40L,TOMM40L EXON Silent,Silent,Silent indel.8021 1 161199494 [I/D] NM_001286373,NM_032174,NM_001286374,NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 TOMM40L,TOMM40L,TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON exm117735 1 161199503 [A/G] NM_001286373,NM_032174,NM_001286374,NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 TOMM40L,TOMM40L,TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Silent,Silent,Missense_P287L,Missense_P297L,Silent,Missense_P330L,Missense_P258L,Missense_P302L,Missense_P331L,Silent,Silent,Silent,Missense_P306L,Silent,Silent kgp3104024 1 161199579 [A/G] NM_001286373,NM_032174,NM_001286374,NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 TOMM40L,TOMM40L,TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp11406252 1 161199704 [T/C] NM_001286373,NM_032174,NM_001286374,NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 TOMM40L,TOMM40L,TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Synonymous_A314A,Synonymous_A310A,Silent,Silent,Synonymous_A319A,Silent,Silent,Silent,Silent,Synonymous_A242A,Synonymous_A276A,Synonymous_A281A,Silent,Synonymous_A286A,Synonymous_A271A kgp15844928 1 161199781 [T/C] NM_001286373,NM_032174,NM_001286374,NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 TOMM40L,TOMM40L,TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp15238380 1 161199805 [A/G] NM_001286373,NM_032174,NM_001286374,NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 TOMM40L,TOMM40L,TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp15486946 1 161199892 [T/G] NM_001286373,NM_032174,NM_001286374,NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 TOMM40L,TOMM40L,TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp25090928 1 161199957 [T/C] NM_001286373,NM_032174,NM_001286374,NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 TOMM40L,TOMM40L,TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp15701817 1 161200227 [T/C] NM_001286373,NM_032174,NM_001286374,NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 TOMM40L,TOMM40L,TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp24747589 1 161200276 [A/G] NM_001286373,NM_032174,NM_001286374,NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 TOMM40L,TOMM40L,TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp15869681 1 161200320 [A/G] NM_001286373,NM_032174,NM_001286374,NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 TOMM40L,TOMM40L,TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp15806888 1 161200603 [T/C] NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Missense_R310Q,Missense_R306Q,Missense_R267H,Missense_R277H,Missense_R315Q,Missense_R310H,Missense_R238H,Missense_R282H,Missense_R311H,Missense_R238Q,Missense_R272Q,Missense_R277Q,Missense_R286H,Missense_R282Q,Missense_R267Q exm117751 1 161200604 [A/G] NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Missense_R310W,Missense_R306W,Missense_R267C,Missense_R277C,Missense_R315W,Missense_R310C,Missense_R238C,Missense_R282C,Missense_R311C,Missense_R238W,Missense_R272W,Missense_R277W,Missense_R286C,Missense_R282W,Missense_R267W exm117754 1 161200618 [T/C] NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Missense_R305Q,Missense_R301Q,Missense_R262Q,Missense_R272Q,Missense_R310Q,Missense_R305Q,Missense_R233Q,Missense_R277Q,Missense_R306Q,Missense_R233Q,Missense_R267Q,Missense_R272Q,Missense_R281Q,Missense_R277Q,Missense_R262Q variant.8024 1 161200682 [A/C] NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Nonsense_E284X,Nonsense_E280X,Nonsense_E241X,Nonsense_E251X,Nonsense_E289X,Nonsense_E284X,Nonsense_E212X,Nonsense_E256X,Nonsense_E285X,Nonsense_E212X,Nonsense_E246X,Nonsense_E251X,Nonsense_E260X,Nonsense_E256X,Nonsense_E241X exm117757 1 161200707 [A/G] NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Synonymous_D275D,Synonymous_D271D,Synonymous_D232D,Synonymous_D242D,Synonymous_D280D,Synonymous_D275D,Synonymous_D203D,Synonymous_D247D,Synonymous_D276D,Synonymous_D203D,Synonymous_D237D,Synonymous_D242D,Synonymous_D251D,Synonymous_D247D,Synonymous_D232D exm1724136 1 161200970 [A/G] NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Nonsense_R254X,Nonsense_R250X,Silent,Nonsense_R221X,Nonsense_R254X,Nonsense_R254X,Silent,Nonsense_R221X,Nonsense_R250X,Silent,Silent,Nonsense_R221X,Nonsense_R225X,Nonsense_R221X,Silent rs2307424 1 161202605 [A/G] NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Synonymous_P180P,Synonymous_P180P,Synonymous_P180P,Synonymous_P151P,Synonymous_P180P,Synonymous_P180P,Synonymous_P151P,Synonymous_P151P,Synonymous_P180P,Synonymous_P151P,Synonymous_P180P,Synonymous_P151P,Synonymous_P151P,Synonymous_P151P,Synonymous_P180P variant.8026 1 161202958 [A/C] NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm117780 1 161203015 [C/G] NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Missense_L118V,Missense_L118V,Missense_L118V,Missense_L89V,Missense_L118V,Missense_L118V,Missense_L89V,Missense_L89V,Missense_L118V,Missense_L89V,Missense_L118V,Missense_L89V,Missense_L89V,Missense_L89V,Missense_L118V exm117783 1 161203078 [A/G] NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Missense_R97W,Missense_R97W,Missense_R97W,Missense_R68W,Missense_R97W,Missense_R97W,Missense_R68W,Missense_R68W,Missense_R97W,Missense_R68W,Missense_R97W,Missense_R68W,Missense_R68W,Missense_R68W,Missense_R97W rs2307425 1 161203118 [T/C] NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Synonymous_S83S,Synonymous_S83S,Synonymous_S83S,Synonymous_S54S,Synonymous_S83S,Synonymous_S83S,Synonymous_S54S,Synonymous_S54S,Synonymous_S83S,Synonymous_S54S,Synonymous_S83S,Synonymous_S54S,Synonymous_S54S,Synonymous_S54S,Synonymous_S83S rs2501873 1 161204538 [T/C] NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm117792 1 161205693 [T/C] NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Missense_R61H,Missense_R61H,Missense_R61H,Missense_R32H,Missense_R61H,Missense_R61H,Missense_R32H,Missense_R32H,Missense_R61H,Missense_R32H,Missense_R61H,Missense_R32H,Missense_R32H,Missense_R32H,Missense_R61H 1KG_1_161205730 1 161205730 [D/I] NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON indel.8029 1 161205739 [D/I] NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON exm117803 1 161207840 [T/C] NM_001077480,NM_005122,NM_001077474,NM_001077477,NM_001077482,NM_001077478,NM_001077475,NM_001077476,NM_001077469,NM_001077470,NM_001077481,NM_001077479,NM_001077473,NM_001077472,NM_001077471 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Missense_K4R,Silent,Silent,Missense_K4R,Missense_K4R,Silent,Missense_K4R,Silent,Missense_K4R,Missense_K4R,Missense_K4R,Silent rs2502805 1 161209841 [T/C] exm2268772 1 161210729 [T/C] rs7530560 1 161210729 [T/C] rs12562860 1 161211678 [T/C] rs12029543 1 161215212 [T/G] rs2501880 1 161234796 [A/G] NM_001102566 PCP4L1 Silent rs2501875 1 161239471 [T/C] NM_001102566 PCP4L1 Silent rs4255401 1 161253657 [T/C] NM_001102566 PCP4L1 Silent exm117813 1 161254246 [A/G] NM_001102566 PCP4L1 EXON Missense_K61R exm-rs11265582 1 161255333 [T/C] rs4332372 1 161257358 [T/C] rs4436408 1 161260215 [A/G] rs11265584 1 161261041 [T/C] rs4657015 1 161272441 [A/G] exm117820 1 161275906 [G/C] NM_001315491,NM_000530 MPZ,MPZ EXON Missense_G213R,Missense_G213R variant.8030 1 161276574 [T/C] NM_001315491,NM_000530 MPZ,MPZ EXON Synonymous_T124T,Synonymous_T124T exm117836 1 161277149 [A/G] NM_001315491,NM_000530 MPZ,MPZ EXON Missense_R45W,Missense_R45W rs11585941 1 161312656 [A/G] NR_103459,NM_001035511,NM_001035513,NM_003001,NM_001278172,NM_001035512 SDHC,SDHC,SDHC,SDHC,SDHC,SDHC Silent,Silent,Silent,Silent,Silent,Silent rs4600063 1 161333191 [A/G] NR_103459,NM_001035511,NM_001035513,NM_003001,NM_001278172,NM_001035512 SDHC,SDHC,SDHC,SDHC,SDHC,SDHC EXON Silent,Silent,Silent,Silent,Silent,Silent rs16832866 1 161334648 [A/G] NM_001013625 CFAP126 EXON Silent exm117883 1 161334880 [A/G] NM_001013625 CFAP126 EXON Nonsense_Q137X indel.8034 1 161334921 [I/D] NM_001013625 CFAP126 EXON exm1724255 1 161335344 [T/C] NM_001013625 CFAP126 EXON Missense_N107S exm117887 1 161335431 [T/C] NM_001013625 CFAP126 EXON Missense_R78Q exm117889 1 161335470 [T/A] NM_001013625 CFAP126 EXON Missense_M65K exm2250080 1 161336235 [T/C] NM_001013625 CFAP126 EXON Synonymous_T28T variant.8035 1 161336292 [T/C] NM_001013625 CFAP126 Silent exm117899 1 161337631 [A/C] NM_001013625 CFAP126 Silent rs4077631 1 161360435 [T/C] rs12744234 1 161361979 [T/C] rs12745664 1 161370985 [A/G] rs13375736 1 161380911 [A/G] rs3922744 1 161394500 [T/C] rs10157070 1 161398477 [A/C] kgp10115500 1 161398568 [T/C] rs6698806 1 161456186 [T/G] rs4657039 1 161462728 [A/G] rs6696854 1 161463814 [T/C] exm-rs10800309 1 161472158 [A/G] variant.8037 1 161475315 [T/C] NM_001136219,NM_021642 FCGR2A,FCGR2A EXON Nonsense_Q20X,Nonsense_Q20X newrs148134119 1 161475798 [T/G] NM_001136219,NM_021642 FCGR2A,FCGR2A Silent,Silent exm117915 1 161476205 [A/G] NM_001136219,NM_021642 FCGR2A,FCGR2A EXON Missense_Q63R,Missense_Q62R exm117930 1 161479708 [A/G] NM_001136219,NM_021642 FCGR2A,FCGR2A EXON Missense_T155A,Missense_T154A exm117932 1 161479732 [A/C] NM_001136219,NM_021642 FCGR2A,FCGR2A EXON Missense_Q163K,Missense_Q162K exm117933 1 161479745 [A/G] NM_001136219,NM_021642 FCGR2A,FCGR2A EXON Missense_H167R,Missense_H166R rs1801274 1 161479745 [A/G] NM_001136219,NM_021642 FCGR2A,FCGR2A EXON Missense_H167R,Missense_H166R rs511278 1 161490896 [T/C] rs12129787 1 161492587 [T/C] exm118023 1 161495463 [A/G] NM_002155 HSPA6 EXON Missense_V339M exm118026 1 161495470 [A/G] NM_002155 HSPA6 EXON Missense_G341D exm118028 1 161495497 [A/G] NM_002155 HSPA6 EXON Missense_K350R rs2099684 1 161500130 [A/G] exm118068 1 161512848 [T/C] NM_001329120,NM_000569,NM_001127592,NM_001329122,NM_001127595,NM_001127593,NM_001127596 FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A EXON Nonsense_W240X,Nonsense_W345X,Nonsense_W344X,Nonsense_W259X,Nonsense_W240X,Nonsense_W240X,Nonsense_W239X exm118082 1 161514566 [T/C] NM_001329120,NM_000569,NM_001127592,NM_001329122,NM_001127595,NM_001127593,NM_001127596 FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A EXON Missense_G168S,Missense_G273S,Missense_G272S,Silent,Missense_G168S,Missense_G168S,Missense_G167S exm118116 1 161518437 [G/C] NM_001329120,NM_000569,NM_001127592,NM_001329122,NM_001127595,NM_001127593,NM_001127596 FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A EXON Missense_E31D,Missense_E136D,Missense_E135D,Missense_E136D,Missense_E31D,Missense_E31D,Missense_E30D exm2250085 1 161519554 [T/C] NM_001329120,NM_000569,NM_001127592,NM_001329122,NM_001127595,NM_001127593,NM_001127596 FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A EXON Silent,Synonymous_L96L,Synonymous_L96L,Synonymous_L96L,Silent,Silent,Silent indel.8047 1 161569561 [D/I] NR_047648,NM_201563 FCGR2C,FCGR2C EXON exm2231671 1 161596027 [T/G] NM_001244753,NM_001271037,NM_001271036,NM_000570,NM_001271035 FCGR3B,FCGR3B,FCGR3B,FCGR3B,FCGR3B EXON Missense_A162D,Silent,Missense_A145D,Missense_A162D,Missense_A161D indel.8048 1 161596123 [D/I] NM_001244753,NM_001271037,NM_001271036,NM_000570,NM_001271035 FCGR3B,FCGR3B,FCGR3B,FCGR3B,FCGR3B EXON exm118209 1 161596168 [T/C] NM_001244753,NM_001271037,NM_001271036,NM_000570,NM_001271035 FCGR3B,FCGR3B,FCGR3B,FCGR3B,FCGR3B EXON Missense_R115Q,Silent,Missense_R98Q,Missense_R115Q,Missense_R114Q exm118256 1 161641187 [T/C] NM_001002275,NM_001002273,NM_001002274,NM_004001,NM_001190828 FCGR2B,FCGR2B,FCGR2B,FCGR2B,FCGR2B EXON Missense_P46S,Missense_P46S,Missense_P47S,Missense_P47S,Missense_P40S exm118303 1 161647148 [A/G] NM_001002275,NM_001002273,NM_001002274,NM_004001,NM_001190828 FCGR2B,FCGR2B,FCGR2B,FCGR2B,FCGR2B EXON Missense_K282R,Missense_K263R,Missense_K264R,Missense_K283R,Missense_K276R exm118304 1 161647270 [A/C] NM_001002275,NM_001002273,NM_001002274,NM_004001,NM_001190828 FCGR2B,FCGR2B,FCGR2B,FCGR2B,FCGR2B EXON Missense_E286A,Missense_E267A,Missense_E268A,Missense_E287A,Missense_E280A rs11801845 1 161653708 [T/G] NR_002595 RPL31P11 EXON Silent rs1340976 1 161661489 [A/C] rs4657090 1 161662484 [A/G] rs12078337 1 161669427 [A/C] rs1538971 1 161676394 [T/C] exm118314 1 161677004 [T/A] NM_001184867,NM_001184871,NM_001184866,NM_001184872,NM_001184873,NM_032738,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L exm118319 1 161677073 [T/C] NM_001184867,NM_001184871,NM_001184866,NM_001184872,NM_001184873,NM_032738,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_L24F,Missense_L24F,Missense_L24F,Missense_L24F,Missense_L24F,Missense_L24F,Missense_L24F rs12135523 1 161678254 [A/G] NM_001184867,NM_001184871,NM_001184866,NM_001184872,NM_001184873,NM_032738,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA Silent,Silent,Silent,Silent,Silent,Silent,Silent exm118327 1 161680583 [G/C] NM_001184867,NM_001184871,NM_001184866,NM_001184872,NM_001184873,NM_032738,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_P55R,Silent,Missense_P61R,Silent,Missense_P55R,Missense_P55R,Silent exm118332 1 161681040 [A/G] NM_001184867,NM_001184871,NM_001184866,NM_001184872,NM_001184873,NM_032738,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Silent,Silent,Missense_G115E,Silent,Silent,Missense_G109E,Silent exm118335 1 161681082 [T/C] NM_001184867,NM_001184871,NM_001184866,NM_001184872,NM_001184873,NM_032738,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Silent,Silent,Missense_P129L,Silent,Silent,Missense_P123L,Silent exm118336 1 161681087 [A/G] NM_001184867,NM_001184871,NM_001184866,NM_001184872,NM_001184873,NM_032738,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Silent,Silent,Missense_T131A,Silent,Silent,Missense_T125A,Silent exm118350 1 161681237 [A/G] NM_001184867,NM_001184871,NM_001184866,NM_001184872,NM_001184873,NM_032738,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Silent,Silent,Missense_A181T,Silent,Silent,Missense_A175T,Silent exm118351 1 161681238 [A/C] NM_001184867,NM_001184871,NM_001184866,NM_001184872,NM_001184873,NM_032738,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Silent,Silent,Missense_A181E,Silent,Silent,Missense_A175E,Silent exm118357 1 161681736 [T/C] NM_001184867,NM_001184871,NM_001184866,NM_001184872,NM_001184873,NM_032738,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_A99V,Silent,Missense_A194V,Missense_A48V,Silent,Missense_A188V,Missense_A54V exm118362 1 161681780 [A/G] NM_001184867,NM_001184871,NM_001184866,NM_001184872,NM_001184873,NM_032738,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_S114G,Silent,Missense_S209G,Missense_S63G,Silent,Missense_S203G,Missense_S69G rs4301614 1 161681848 [T/C] NM_001184867,NM_001184871,NM_001184866,NM_001184872,NM_001184873,NM_032738,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Synonymous_S136S,Silent,Synonymous_S231S,Synonymous_S85S,Silent,Synonymous_S225S,Synonymous_S91S exm118366 1 161681869 [A/G] NM_001184867,NM_001184871,NM_001184866,NM_001184872,NM_001184873,NM_032738,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_I143M,Silent,Missense_I238M,Missense_I92M,Silent,Missense_I232M,Missense_I98M exm118367 1 161681870 [A/G] NM_001184867,NM_001184871,NM_001184866,NM_001184872,NM_001184873,NM_032738,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_V144M,Silent,Missense_V239M,Missense_V93M,Silent,Missense_V233M,Missense_V99M exm118372 1 161681930 [A/G] NM_001184867,NM_001184871,NM_001184866,NM_001184872,NM_001184873,NM_032738,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_G164R,Silent,Missense_G259R,Missense_G113R,Silent,Missense_G253R,Missense_G119R exm118387 1 161683055 [A/G] NM_001184867,NM_001184871,NM_001184866,NM_001184872,NM_001184873,NM_032738,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_G250D,Missense_G104D,Missense_G345D,Missense_G199D,Missense_G155D,Missense_G339D,Missense_G205D exm118389 1 161683096 [A/G] NM_001184867,NM_001184871,NM_001184866,NM_001184872,NM_001184873,NM_032738,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_G264S,Missense_G118S,Missense_G359S,Missense_G213S,Missense_G169S,Missense_G353S,Missense_G219S rs12042893 1 161685725 [T/C] rs10494356 1 161687261 [A/G] rs1891019 1 161691433 [T/C] NM_001002901 FCRLB EXON Silent exm118394 1 161692468 [C/G] NM_001002901,NM_001320241,NM_001288831,NM_001288832,NM_001288830,NM_001288829 FCRLB,FCRLB,FCRLB,FCRLB,FCRLB,FCRLB EXON Missense_W2C,Missense_W2C,Missense_W2C,Missense_W2C,Missense_W2C,Missense_W2C variant.8054 1 161693156 [A/G] NM_001002901,NM_001320241,NM_001288831,NM_001288832,NM_001288830,NM_001288829 FCRLB,FCRLB,FCRLB,FCRLB,FCRLB,FCRLB Silent,Silent,Silent,Silent,Silent,Silent exm118403 1 161693199 [T/C] NM_001002901,NM_001320241,NM_001288831,NM_001288832,NM_001288830,NM_001288829 FCRLB,FCRLB,FCRLB,FCRLB,FCRLB,FCRLB EXON Missense_T32I,Missense_T32I,Missense_T32I,Missense_T25I,Missense_T25I,Missense_T32I exm118409 1 161693280 [T/C] NM_001002901,NM_001320241,NM_001288831,NM_001288832,NM_001288830,NM_001288829 FCRLB,FCRLB,FCRLB,FCRLB,FCRLB,FCRLB EXON Missense_T59I,Missense_T59I,Missense_T59I,Missense_T52I,Missense_T52I,Missense_T59I variant.8055 1 161693287 [A/G] NM_001002901,NM_001320241,NM_001288831,NM_001288832,NM_001288830,NM_001288829 FCRLB,FCRLB,FCRLB,FCRLB,FCRLB,FCRLB EXON Nonsense_W61X,Nonsense_W61X,Nonsense_W61X,Nonsense_W54X,Nonsense_W54X,Nonsense_W61X exm118416 1 161693340 [T/C] NM_001002901,NM_001320241,NM_001288831,NM_001288832,NM_001288830,NM_001288829 FCRLB,FCRLB,FCRLB,FCRLB,FCRLB,FCRLB EXON Missense_T79I,Missense_T79I,Missense_T79I,Missense_T72I,Missense_T72I,Missense_T79I exm118417 1 161693366 [T/C] NM_001002901,NM_001320241,NM_001288831,NM_001288832,NM_001288830,NM_001288829 FCRLB,FCRLB,FCRLB,FCRLB,FCRLB,FCRLB EXON Missense_R88W,Missense_R88W,Missense_R88W,Missense_R81W,Missense_R81W,Missense_R88W exm118419 1 161693378 [A/G] NM_001002901,NM_001320241,NM_001288831,NM_001288832,NM_001288830,NM_001288829 FCRLB,FCRLB,FCRLB,FCRLB,FCRLB,FCRLB EXON Missense_V92I,Missense_V92I,Missense_V92I,Missense_V85I,Missense_V85I,Missense_V92I rs12079477 1 161694857 [A/G] NM_001002901,NM_001320241,NM_001288831,NM_001288832,NM_001288830,NM_001288829 FCRLB,FCRLB,FCRLB,FCRLB,FCRLB,FCRLB Silent,Silent,Silent,Silent,Silent,Silent exm118431 1 161695779 [A/G] NM_001002901,NM_001320241,NM_001288831,NM_001288832,NM_001288830,NM_001288829 FCRLB,FCRLB,FCRLB,FCRLB,FCRLB,FCRLB EXON Missense_R159H,Missense_R159H,Missense_R159H,Missense_R152H,Missense_R152H,Missense_R159H exm118438 1 161696648 [T/C] NM_001002901,NM_001320241,NM_001288831,NM_001288832,NM_001288830,NM_001288829 FCRLB,FCRLB,FCRLB,FCRLB,FCRLB,FCRLB EXON Missense_R244C,Missense_R244C,Missense_A209V,Missense_A202V,Synonymous_C188C,Synonymous_C195C exm118439 1 161696663 [A/G] NM_001002901,NM_001320241,NM_001288831,NM_001288832,NM_001288830,NM_001288829 FCRLB,FCRLB,FCRLB,FCRLB,FCRLB,FCRLB EXON Missense_G249S,Missense_G249S,Missense_G214E,Missense_G207E,Synonymous_G193G,Synonymous_G200G exm118446 1 161697072 [C/G] NM_001002901,NM_001320241,NM_001288831,NM_001288832,NM_001288830,NM_001288829 FCRLB,FCRLB,FCRLB,FCRLB,FCRLB,FCRLB EXON Missense_A301P,Missense_A301P,Missense_S266T,Missense_S259T,Missense_Q245H,Missense_Q252H exm118456 1 161697319 [A/G] NM_001002901,NM_001320241,NM_001288831,NM_001288832,NM_001288830,NM_001288829 FCRLB,FCRLB,FCRLB,FCRLB,FCRLB,FCRLB EXON Missense_G383D,Missense_G383D,Silent,Silent,Silent,Silent exm118457 1 161697361 [A/C] NM_001002901,NM_001320241,NM_001288831,NM_001288832,NM_001288830,NM_001288829 FCRLB,FCRLB,FCRLB,FCRLB,FCRLB,FCRLB EXON Missense_A397D,Missense_A397D,Silent,Silent,Silent,Silent exm118458 1 161697382 [T/C] NM_001002901,NM_001320241,NM_001288831,NM_001288832,NM_001288830,NM_001288829 FCRLB,FCRLB,FCRLB,FCRLB,FCRLB,FCRLB EXON Missense_T404M,Missense_T404M,Silent,Silent,Silent,Silent exm118459 1 161697418 [G/C] NM_001002901,NM_001320241,NM_001288831,NM_001288832,NM_001288830,NM_001288829 FCRLB,FCRLB,FCRLB,FCRLB,FCRLB,FCRLB EXON Missense_P416R,Missense_P416R,Silent,Silent,Silent,Silent exm118460 1 161697451 [C/G] NM_001002901,NM_001320241,NM_001288831,NM_001288832,NM_001288830,NM_001288829 FCRLB,FCRLB,FCRLB,FCRLB,FCRLB,FCRLB EXON Missense_X427S,Missense_X427S,Silent,Silent,Silent,Silent rs12048671 1 161701641 [T/C] exm2259829 1 161701810 [A/G] rs11576107 1 161702792 [T/C] rs1027702 1 161712857 [T/C] exm118469 1 161719736 [A/T] NM_007240 DUSP12 EXON Missense_R49W exm118472 1 161719775 [A/G] NM_007240 DUSP12 EXON Missense_E62K exm118477 1 161719821 [A/G] NM_007240 DUSP12 EXON Missense_R77H exm118492 1 161721697 [T/C] NM_007240 DUSP12 EXON Missense_A167V rs1063178 1 161721707 [T/C] NM_007240 DUSP12 EXON Synonymous_Y170Y exm118496 1 161721771 [C/G] NM_007240 DUSP12 EXON Missense_P192A variant.8063 1 161722878 [T/C] NM_007240 DUSP12 EXON Nonsense_R230X exm118508 1 161723013 [A/T] NM_007240 DUSP12 EXON Missense_W275R exm118513 1 161726654 [A/G] NM_007240 DUSP12 EXON Missense_T314A exm2231674 1 161726951 [G/C] NM_007240 DUSP12 EXON Silent exm118517 1 161736167 [T/G] NM_007348 ATF6 EXON Missense_G6V exm118519 1 161736197 [T/G] NM_007348 ATF6 EXON Missense_S16I exm118521 1 161736209 [T/C] NM_007348 ATF6 EXON Missense_F20S rs4657101 1 161738238 [A/C] NM_007348 ATF6 Silent rs905594 1 161741274 [T/C] NM_007348 ATF6 Silent exm118528 1 161748100 [A/G] NM_007348 ATF6 EXON Missense_N50S variant.8064 1 161748115 [A/G] NM_007348 ATF6 Silent rs1058405 1 161751741 [A/G] NM_007348 ATF6 EXON Missense_M67V exm118532 1 161751741 [A/G] NM_007348 ATF6 EXON Missense_M67V exm118537 1 161753840 [T/C] NM_007348 ATF6 EXON Missense_S103L exm118550 1 161761276 [C/G] NM_007348 ATF6 EXON Missense_A145P exm118551 1 161761312 [T/C] NM_007348 ATF6 EXON Missense_P157S exm118559 1 161771868 [A/G] NM_007348 ATF6 EXON Missense_T239A exm118560 1 161771895 [A/G] NM_007348 ATF6 EXON Missense_V248I exm118563 1 161771986 [T/C] NM_007348 ATF6 EXON Missense_A278V exm118568 1 161772054 [A/G] NM_007348 ATF6 EXON Missense_G301S rs2134697 1 161780979 [A/G] NM_007348 ATF6 Silent rs10800032 1 161794336 [T/C] NM_007348 ATF6 Silent rs10918029 1 161795896 [A/G] NM_007348 ATF6 Silent exm-rs7530997 1 161810151 [A/G] NM_007348 ATF6 Silent rs17408556 1 161813765 [T/G] NM_007348 ATF6 Silent exm118585 1 161816280 [A/G] NM_007348 ATF6 EXON Missense_S410N exm118604 1 161830057 [A/G] NM_007348 ATF6 EXON Missense_S532G rs4657115 1 161831507 [A/G] NM_007348 ATF6 Silent rs6670606 1 161837762 [A/G] NM_007348 ATF6 Silent rs10918103 1 161842040 [A/G] NM_007348 ATF6 Silent rs10737517 1 161908338 [A/G] NM_007348 ATF6 Silent exm-rs10918270 1 161915501 [A/G] NM_007348 ATF6 Silent rs2341471 1 161924749 [A/G] NM_007348 ATF6 Silent rs9482 1 161928327 [A/G] NM_007348 ATF6 EXON Synonymous_S632S exm1724880 1 161928391 [A/G] NM_007348 ATF6 EXON Missense_A654T rs2340725 1 161943634 [T/C] exm2250089 1 161953624 [A/G] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Synonymous_Y700Y,Synonymous_Y698Y,Synonymous_Y699Y exm118631 1 161953665 [A/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_A687S,Missense_A685S,Missense_A686S exm118638 1 161953763 [T/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_N654S,Missense_N652S,Missense_N653S exm1724887 1 161953913 [T/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_H604R,Missense_H602R,Missense_H603R exm118651 1 161954040 [A/G] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_P562S,Missense_P560S,Missense_P561S indel.8067 1 161954680 [I/D] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON exm118658 1 161954710 [T/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_R514Q,Missense_R512Q,Missense_R513Q rs7523243 1 161955205 [T/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B Silent,Silent,Silent rs10494362 1 161957719 [A/G] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B Silent,Silent,Silent rs2490420 1 161964536 [T/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B Silent,Silent,Silent rs6691548 1 161967287 [T/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B Silent,Silent,Silent exm118671 1 161967722 [A/G] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_T458I,Missense_T456I,Missense_T457I exm118673 1 161967856 [A/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_Q413H,Missense_Q411H,Missense_Q412H exm118674 1 161967881 [A/T] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_D405V,Missense_D403V,Missense_D404V exm118678 1 161967937 [C/G] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_S386R,Missense_S384R,Missense_S385R exm118679 1 161967953 [A/G] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_S381L,Missense_S379L,Missense_S380L exm118680 1 161967974 [T/G] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_S374Y,Missense_S372Y,Missense_S373Y exm118682 1 161967990 [A/G] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_R369W,Missense_R367W,Missense_R368W exm118688 1 161968049 [T/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_R349Q,Missense_R347Q,Missense_R348Q exm118694 1 161969936 [A/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_V308F,Missense_V306F,Missense_V307F exm118696 1 161969986 [A/G] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_P291L,Missense_P289L,Missense_P290L exm118700 1 161970046 [A/G] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_L271P,Missense_L269P,Missense_L270P exm1724922 1 161976095 [A/G] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_H239Y,Missense_H239Y,Missense_H239Y exm118710 1 161976134 [A/G] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_R226C,Missense_R226C,Missense_R226C exm118711 1 161976172 [T/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_N213S,Missense_N213S,Missense_N213S exm118712 1 161976185 [A/G] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Nonsense_R209X,Nonsense_R209X,Nonsense_R209X exm2268943 1 161983089 [T/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B Silent,Silent,Silent rs6676438 1 161983089 [T/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B Silent,Silent,Silent exm118723 1 161987190 [G/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_E182D,Missense_E182D,Missense_E182D exm118726 1 161987215 [A/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_V174G,Missense_V174G,Missense_V174G exm118731 1 161987291 [T/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_T149A,Missense_T149A,Missense_T149A rs7532680 1 161988206 [T/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B Silent,Silent,Silent exm118738 1 161989809 [A/G] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_S113L,Missense_S113L,Missense_S113L exm118745 1 161989891 [A/G] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_R86W,Missense_R86W,Missense_R86W rs4657134 1 161990991 [A/G] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B Silent,Silent,Silent exm118753 1 161993187 [A/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_A12S,Missense_A12S,Missense_A12S exm118754 1 161993192 [T/C] NM_001347700,NM_015441,NM_001297713 OLFML2B,OLFML2B,OLFML2B EXON Missense_Y10C,Missense_Y10C,Missense_Y10C rs7551221 1 162000398 [T/C] rs7539281 1 162008034 [A/G] rs10158975 1 162010787 [A/G] rs2880058 1 162014632 [A/G] exm-rs2880058 1 162014632 [A/G] rs10918595 1 162031465 [A/G] exm-rs12143842 1 162033890 [T/C] rs12143842 1 162033890 [T/C] rs1337062 1 162063023 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs10918671 1 162067299 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs12074902 1 162067447 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm-rs1415259 1 162085309 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm-rs10494366 1 162085685 [T/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs10458392 1 162092110 [T/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs1572495 1 162099301 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs4657154 1 162108119 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs16857019 1 162112650 [T/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm-rs16857031 1 162112910 [C/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs945708 1 162118902 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs10918762 1 162118984 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs12029454 1 162133117 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm-rs12029454 1 162133117 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs7546353 1 162139692 [A/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs4526593 1 162148700 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs4657164 1 162160920 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm2264911 1 162168116 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs3897374 1 162168958 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs6676737 1 162175972 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs12116744 1 162180456 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs6683968 1 162191412 [T/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs4657175 1 162195738 [T/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs10918936 1 162202488 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs4657178 1 162210610 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm-rs4657178 1 162210610 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs6677052 1 162219739 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs12742393 1 162224586 [A/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs10157390 1 162247296 [T/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs7528328 1 162247779 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs6659953 1 162249697 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs12027674 1 162252414 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs4657182 1 162258147 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs10919096 1 162263270 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs6677529 1 162263754 [A/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs10919117 1 162267823 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm118761 1 162270463 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP EXON Missense_S99N,Missense_S104N rs2819316 1 162278552 [T/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs2819322 1 162281028 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs9661075 1 162299197 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs347300 1 162299823 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm2250095 1 162302846 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP EXON Synonymous_I123I,Synonymous_I128I rs10753789 1 162306207 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs6700867 1 162306295 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs10800465 1 162310313 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs347282 1 162312753 [T/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs449908 1 162324445 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm2231677 1 162326804 [T/G] NM_001164757,NM_014697 NOS1AP,NOS1AP EXON Missense_S268A,Missense_S273A exm118790 1 162326843 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP EXON Missense_P281S,Missense_P286S rs12122048 1 162331408 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs6681981 1 162331621 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm118810 1 162336953 [T/C] NM_001164757,NM_014697,NM_001126060 NOS1AP,NOS1AP,NOS1AP EXON Missense_A401V,Missense_A406V,Missense_A111V rs164148 1 162338485 [A/G] NM_001164757,NM_014697,NM_001126060 NOS1AP,NOS1AP,NOS1AP EXON Silent,Silent,Silent rs164158 1 162343388 [T/C] exm118825 1 162343861 [T/C] NM_182581 SPATA46 EXON Missense_G255S exm118835 1 162343974 [T/C] NM_182581 SPATA46 EXON Missense_R217H rs2282397 1 162344102 [T/C] NM_182581 SPATA46 EXON Synonymous_R174R exm118852 1 162344205 [A/G] NM_182581 SPATA46 EXON Missense_S140L exm118863 1 162344365 [A/G] NM_182581 SPATA46 EXON Missense_R87W exm118869 1 162345091 [A/G] NM_182581 SPATA46 EXON Missense_A69V exm118870 1 162345121 [A/G] NM_182581 SPATA46 EXON Missense_I59T exm118872 1 162345160 [G/C] NM_182581 SPATA46 EXON Missense_S46C exm118879 1 162346529 [T/C] NM_182581 SPATA46 EXON Missense_A18T exm118881 1 162346559 [T/C] NM_182581 SPATA46 EXON Missense_S8G exm118885 1 162351708 [A/G] NM_001135240,NM_001085375 C1orf226,C1orf226 EXON Missense_N49S,Missense_N6S exm118887 1 162351741 [A/G] NM_001135240,NM_001085375 C1orf226,C1orf226 EXON Missense_R60H,Missense_R17H exm118888 1 162351752 [A/C] NM_001135240,NM_001085375 C1orf226,C1orf226 EXON Missense_H64N,Missense_H21N exm118899 1 162353144 [C/G] NM_001135240,NM_001085375 C1orf226,C1orf226 EXON Missense_P207A,Missense_P164A exm118905 1 162353319 [C/G] NM_001135240,NM_001085375 C1orf226,C1orf226 EXON Missense_S265C,Missense_S222C rs1047802 1 162356487 [T/G] NM_001135240,NM_001085375 C1orf226,C1orf226 EXON Silent,Silent rs10919317 1 162360008 [T/C] rs164126 1 162365659 [A/G] NM_053282 SH2D1B EXON Silent exm118923 1 162367103 [T/G] NM_053282 SH2D1B EXON Missense_N122K exm118927 1 162368747 [T/C] NM_053282 SH2D1B EXON Nonsense_W110X newrs142310988 1 162368747 [T/C] NM_053282 SH2D1B EXON Nonsense_W110X indel.8081 1 162368762 [D/I] NM_053282 SH2D1B EXON rs12746024 1 162374853 [A/C] NM_053282 SH2D1B Silent rs351453 1 162375916 [T/C] NM_053282 SH2D1B Silent exm118937 1 162381672 [T/C] NM_053282 SH2D1B Silent exm118939 1 162381700 [A/G] NM_053282 SH2D1B EXON Missense_I36T rs164128 1 162385511 [T/G] rs164410 1 162387704 [T/C] rs905717 1 162390085 [A/G] rs469834 1 162416145 [A/G] rs469809 1 162416532 [T/C] rs164160 1 162433012 [T/C] rs164170 1 162439692 [T/G] rs357036 1 162451851 [A/G] rs6673387 1 162458412 [T/C] rs10919548 1 162466523 [A/C] exm118952 1 162467843 [T/C] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 EXON Silent,Missense_A18V,Missense_A18V exm118962 1 162468040 [G/C] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 EXON Silent,Missense_Q84E,Missense_Q84E exm118966 1 162469853 [A/G] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 EXON Missense_S52N,Missense_S126N,Missense_S126N exm118967 1 162469861 [G/C] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 EXON Missense_G55R,Missense_G129R,Missense_G129R variant.8084 1 162470701 [A/G] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 Silent,Silent,Silent exm118987 1 162482366 [C/G] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 EXON Missense_A235P,Missense_A309P,Missense_A309P exm118996 1 162487906 [T/G] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 EXON Missense_V273L,Missense_V347L,Silent indel.8088 1 162487912 [D/I] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 EXON rs6427680 1 162490218 [T/C] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 Silent,Silent,Silent exm119000 1 162492285 [A/C] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 EXON Missense_T328K,Missense_T402K,Silent rs1062174 1 162493009 [T/C] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 EXON Silent,Silent,Silent rs6704428 1 162528505 [A/G] exm119009 1 162535958 [T/C] NM_001324115,NM_001324116,NM_001324117,NM_003115,NM_001324113,NM_001324114 UAP1,UAP1,UAP1,UAP1,UAP1,UAP1 EXON Missense_Y34H,Missense_Y34H,Missense_Y34H,Missense_Y34H,Missense_Y34H,Missense_Y34H rs12130399 1 162543172 [A/G] NM_001324115,NM_001324116,NM_001324117,NM_003115,NM_001324113,NM_001324114 UAP1,UAP1,UAP1,UAP1,UAP1,UAP1 Silent,Silent,Silent,Silent,Silent,Silent exm1725823 1 162551137 [A/G] NM_001324115,NM_001324116,NM_001324117,NM_003115,NM_001324113,NM_001324114 UAP1,UAP1,UAP1,UAP1,UAP1,UAP1 EXON Missense_Q241R,Missense_Q241R,Missense_Q241R,Missense_Q241R,Missense_Q241R,Missense_Q241R exm119023 1 162557358 [G/C] NM_001324115,NM_001324116,NM_001324117,NM_003115,NM_001324113,NM_001324114 UAP1,UAP1,UAP1,UAP1,UAP1,UAP1 EXON Missense_A310P,Missense_A310P,Missense_A310P,Missense_A310P,Missense_A310P,Missense_A310P variant.8089 1 162557373 [T/C] NM_001324115,NM_001324116,NM_001324117,NM_003115,NM_001324113,NM_001324114 UAP1,UAP1,UAP1,UAP1,UAP1,UAP1 EXON Nonsense_R315X,Nonsense_R315X,Nonsense_R315X,Nonsense_R315X,Nonsense_R315X,Nonsense_R315X exm119030 1 162557457 [A/G] NM_001324115,NM_001324116,NM_001324117,NM_003115,NM_001324113,NM_001324114 UAP1,UAP1,UAP1,UAP1,UAP1,UAP1 EXON Missense_N343D,Missense_N343D,Missense_N343D,Missense_N343D,Missense_N343D,Missense_N343D indel.8090 1 162558530 [I/D] NM_001324115,NM_001324116,NM_001324117,NM_003115,NM_001324113,NM_001324114 UAP1,UAP1,UAP1,UAP1,UAP1,UAP1 EXON exm119035 1 162560114 [A/C] NM_001324115,NM_001324116,NM_001324117,NM_003115,NM_001324113,NM_001324114 UAP1,UAP1,UAP1,UAP1,UAP1,UAP1 EXON Missense_K391Q,Missense_K391Q,Missense_K391Q,Missense_K391Q,Missense_K391Q,Missense_K391Q exm119044 1 162560282 [T/C] NM_001324115,NM_001324116,NM_001324117,NM_003115,NM_001324113,NM_001324114 UAP1,UAP1,UAP1,UAP1,UAP1,UAP1 EXON Missense_R447C,Missense_R447C,Missense_R447C,Missense_R447C,Missense_R447C,Missense_R447C rs1510267 1 162562775 [A/G] NM_001324115,NM_001324116,NM_001324117,NM_003115,NM_001324113,NM_001324114 UAP1,UAP1,UAP1,UAP1,UAP1,UAP1 Silent,Silent,Silent,Silent,Silent,Silent rs16863833 1 162567225 [T/C] NM_001324115,NM_001324116,NM_001324117,NM_003115,NM_001324113,NM_001324114 UAP1,UAP1,UAP1,UAP1,UAP1,UAP1 Silent,Silent,Silent,Silent,Silent,Silent exm119050 1 162569077 [T/C] NM_001324115,NM_001324116,NM_001324117,NM_003115,NM_001324113,NM_001324114 UAP1,UAP1,UAP1,UAP1,UAP1,UAP1 EXON Missense_V481A,Missense_V498A,Missense_V497A,Missense_V481A,Missense_V481A,Missense_V481A exm2231683 1 162569107 [A/T] NM_001324115,NM_001324116,NM_001324117,NM_003115,NM_001324113,NM_001324114 UAP1,UAP1,UAP1,UAP1,UAP1,UAP1 EXON Missense_I491N,Missense_I508N,Missense_I507N,Missense_I491N,Missense_I491N,Missense_I491N rs12027707 1 162590088 [T/C] rs6702652 1 162597545 [T/G] rs7544972 1 162600119 [T/C] rs7524537 1 162613122 [T/C] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 Silent,Silent,Silent,Silent rs3795641 1 162625020 [A/G] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 EXON Silent,Silent,Silent,Silent rs10917583 1 162630894 [T/C] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 Silent,Silent,Silent,Silent rs4656376 1 162640649 [A/G] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 Silent,Silent,Silent,Silent rs4656379 1 162644167 [A/G] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 Silent,Silent,Silent,Silent rs4657226 1 162653274 [A/G] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 Silent,Silent,Silent,Silent rs7553831 1 162661011 [T/G] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 Silent,Silent,Silent,Silent rs17433710 1 162672011 [T/C] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 Silent,Silent,Silent,Silent rs6695961 1 162684359 [T/C] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 Silent,Silent,Silent,Silent variant.8092 1 162688825 [A/G] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 Silent,Silent,Silent,Silent rs1039871 1 162694593 [T/C] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 Silent,Silent,Silent,Silent rs2665496 1 162713074 [A/C] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 Silent,Silent,Silent,Silent rs1704740 1 162722216 [A/G] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 Silent,Silent,Silent,Silent exm119064 1 162724415 [G/C] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 EXON Missense_L63V,Missense_L63V,Missense_L63V,Missense_L63V exm119079 1 162725022 [A/G] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 EXON Missense_R165Q,Missense_R165Q,Missense_R165Q,Missense_R165Q exm119080 1 162725036 [A/T] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 EXON Missense_T170S,Missense_T170S,Missense_T170S,Missense_T170S exm119082 1 162725040 [A/G] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 EXON Missense_D171G,Missense_D171G,Missense_D171G,Missense_D171G exm119083 1 162725046 [C/G] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 EXON Missense_S173C,Missense_S173C,Missense_S173C,Missense_S173C exm1726161 1 162731077 [A/G] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 EXON Missense_S311N,Missense_S311N,Missense_S311N,Missense_S311N exm119096 1 162731124 [A/G] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 EXON Missense_V327I,Missense_V327I,Missense_V327I,Missense_V327I rs2805025 1 162732491 [A/G] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 Silent,Silent,Silent,Silent rs6676809 1 162739009 [A/G] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 Silent,Silent,Silent,Silent exm119114 1 162740121 [A/G] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 EXON Missense_M441I,Missense_M441I,Missense_M441I,Missense_M441I exm119117 1 162740180 [T/C] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 EXON Missense_S461L,Missense_S461L,Missense_S461L,Missense_S461L exm119120 1 162740230 [T/C] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 EXON Missense_R478C,Missense_R478C,Missense_R478C,Missense_R478C rs1780003 1 162740327 [T/C] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 Silent,Silent,Silent,Silent exm119130 1 162741822 [A/G] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 EXON Missense_G505S,Missense_G505S,Missense_G505S,Missense_G505S exm119146 1 162745952 [A/C] NM_001354983,NM_001354982,NM_006182,NM_001014796 DDR2,DDR2,DDR2,DDR2 EXON Missense_T692N,Missense_T692N,Missense_T692N,Missense_T692N exm119174 1 162760622 [C/G] NM_001304513,NM_001304512,NM_016371 HSD17B7,HSD17B7,HSD17B7 EXON Missense_S11T,Missense_S11T,Missense_S11T exm2231693 1 162766381 [T/G] NM_001304513,NM_001304512,NM_016371 HSD17B7,HSD17B7,HSD17B7 EXON Missense_Q82H,Missense_Q82H,Missense_Q82H indel.8094 1 162773271 [I/D] NM_016371 HSD17B7 EXON exm119202 1 162773300 [T/C] NM_016371 HSD17B7 EXON Missense_T241M exm2268773 1 162781787 [T/C] NM_016371 HSD17B7 Silent rs1510324 1 162793865 [A/G] rs6673329 1 162794500 [A/G] rs2684874 1 162797691 [T/C] rs12026860 1 162800207 [T/G] rs7354897 1 162800426 [T/C] rs6679069 1 162813651 [T/C] rs16845797 1 162819508 [T/C] rs2880639 1 162820067 [T/C] rs1912453 1 162821291 [A/G] exm119214 1 162824562 [A/G] NM_178550 CCDC190 EXON Missense_P301L exm119223 1 162824773 [A/T] NM_178550 CCDC190 EXON Missense_M231L exm119231 1 162824862 [A/C] NM_178550 CCDC190 EXON Missense_S201I exm119232 1 162824872 [T/C] NM_178550 CCDC190 EXON Missense_A198T exm119234 1 162824944 [G/C] NM_178550 CCDC190 EXON Missense_G174R var_1_162825004 1 162825004 [A/G] NM_178550 CCDC190 EXON Nonsense_Q154X exm119238 1 162825004 [A/G] NM_178550 CCDC190 EXON Nonsense_Q154X exm119247 1 162825457 [A/C] NM_178550 CCDC190 EXON Missense_R93S rs1355285 1 162827816 [T/C] NM_178550 CCDC190 Silent exm119253 1 162829327 [A/T] NM_178550 CCDC190 EXON Missense_V37D variant.8098 1 162829349 [A/G] NM_178550 CCDC190 EXON Nonsense_Q30X exm1726289 1 162829449 [A/C] NM_178550 CCDC190 Silent rs12024415 1 162832406 [T/C] NM_178550 CCDC190 Silent rs2032049 1 162833401 [A/G] NM_178550 CCDC190 Silent rs12047510 1 162842202 [T/C] rs2803881 1 162843606 [A/C] rs10917623 1 162846170 [T/C] rs12746889 1 162846591 [T/C] rs2343479 1 162854145 [T/C] rs4540634 1 162870633 [T/C] rs10917636 1 162878023 [T/G] rs10917640 1 162881307 [T/C] rs10799883 1 162883337 [A/G] rs10753596 1 162884258 [T/C] rs4403607 1 162887988 [T/C] rs2343504 1 162890325 [A/G] rs6657722 1 162893276 [T/C] rs2343508 1 162896697 [T/C] rs6664865 1 162910384 [T/C] rs4492592 1 162910683 [T/G] rs12091621 1 162915745 [A/G] rs10917649 1 162920524 [T/C] rs10917653 1 162927922 [A/G] rs10799891 1 162932150 [A/G] rs11585636 1 162932822 [T/C] rs2343278 1 162938703 [T/G] rs12126781 1 162940693 [A/G] rs16847292 1 162944464 [T/C] rs7339985 1 162945455 [A/G] rs2841979 1 162959836 [A/G] rs1507742 1 162961718 [A/C] rs1507744 1 162969472 [T/C] rs1507746 1 162995355 [A/G] rs2661339 1 163018934 [T/G] rs2842020 1 163027520 [A/G] rs951437 1 163033511 [T/C] exm2250111 1 163035531 [A/C] rs7515900 1 163038613 [A/C] NM_001102445 RGS4 EXON Silent variant.8100 1 163038784 [T/G] NM_001102445,NM_005613 RGS4,RGS4 EXON Silent,Silent variant.8101 1 163039117 [A/G] NM_001102445,NM_005613,NM_001113381 RGS4,RGS4,RGS4 EXON Nonsense_W45X,Silent,Silent variant.8102 1 163042222 [T/C] NM_001102445,NM_005613,NM_001113381,NM_001113380 RGS4,RGS4,RGS4,RGS4 EXON Nonsense_Q125X,Nonsense_Q28X,Nonsense_Q28X,Nonsense_Q10X variant.8103 1 163042622 [A/G] NM_001102445,NM_005613,NM_001113381,NM_001113380 RGS4,RGS4,RGS4,RGS4 EXON Nonsense_W156X,Nonsense_W59X,Nonsense_W59X,Nonsense_W41X var_1_163044110 1 163044110 [A/G] NM_001102445,NM_005613,NM_001113381,NM_001113380 RGS4,RGS4,RGS4,RGS4 Silent,Silent,Silent,Silent exm119284 1 163044301 [T/G] NM_001102445,NM_005613,NM_001113381,NM_001113380 RGS4,RGS4,RGS4,RGS4 EXON Missense_G287V,Missense_G190V,Silent,Missense_G172V rs2063142 1 163053289 [A/G] rs2841959 1 163058194 [T/C] rs2661303 1 163064483 [T/C] rs10799899 1 163073502 [A/C] rs2940249 1 163080200 [T/C] rs2841989 1 163093382 [T/G] rs1507735 1 163104848 [A/G] rs10494382 1 163107107 [T/G] rs1056515 1 163113260 [T/G] NM_003617,NM_001254748,NM_001254749,NM_001195303 RGS5,RGS5,RGS5,RGS5 EXON Silent,Silent,Silent,Silent rs2815274 1 163114605 [A/G] NM_003617,NM_001254748,NM_001254749,NM_001195303 RGS5,RGS5,RGS5,RGS5 EXON Silent,Silent,Silent,Silent exm2259832 1 163115321 [A/G] NM_003617,NM_001254748,NM_001254749,NM_001195303 RGS5,RGS5,RGS5,RGS5 EXON Silent,Silent,Silent,Silent rs15049 1 163116878 [T/G] NM_003617,NM_001254748,NM_001254749,NM_001195303 RGS5,RGS5,RGS5,RGS5 EXON Silent,Silent,Silent,Silent exm119288 1 163117163 [T/C] NM_003617,NM_001254748,NM_001254749,NM_001195303 RGS5,RGS5,RGS5,RGS5 EXON Missense_R172H,Missense_R64H,Missense_R176H,Missense_R64H indel.8106 1 163117168 [I/D] NM_003617,NM_001254748,NM_001254749,NM_001195303 RGS5,RGS5,RGS5,RGS5 EXON exm1726411 1 163117173 [A/G] NM_003617,NM_001254748,NM_001254749,NM_001195303 RGS5,RGS5,RGS5,RGS5 EXON Missense_R169C,Missense_R61C,Missense_R173C,Missense_R61C indel.8107 1 163122407 [D/I] NM_003617,NM_001254748,NM_001254749,NM_001195303 RGS5,RGS5,RGS5,RGS5 EXON exm119297 1 163122448 [C/G] NM_003617,NM_001254748,NM_001254749,NM_001195303 RGS5,RGS5,RGS5,RGS5 EXON Missense_E92D,Silent,Missense_E92D,Silent indel.8108 1 163122486 [I/D] NM_003617,NM_001254748,NM_001254749,NM_001195303 RGS5,RGS5,RGS5,RGS5 EXON rs2255642 1 163126417 [A/G] NM_003617,NM_001254748,NM_001254749,NM_001195303 RGS5,RGS5,RGS5,RGS5 Silent,Silent,Silent,Silent rs1876451 1 163132803 [T/C] NM_003617,NM_001254748,NM_001254749,NM_001195303,NR_110699 RGS5,RGS5,RGS5,RGS5,LOC101928404 Silent,Silent,Silent,Silent,Silent exm119308 1 163138082 [T/G] NM_003617,NM_001254748,NM_001254749,NM_001195303,NR_110699 RGS5,RGS5,RGS5,RGS5,LOC101928404 EXON Missense_N41H,Silent,Missense_N41H,Silent,Silent rs7534573 1 163145696 [T/C] NM_003617,NM_001254748,NM_001254749,NM_001195303,NR_110699 RGS5,RGS5,RGS5,RGS5,LOC101928404 Silent,Silent,Silent,Silent,Silent rs10917695 1 163148728 [T/C] NM_003617,NM_001254748,NM_001254749,NM_001195303,NR_110699 RGS5,RGS5,RGS5,RGS5,LOC101928404 Silent,Silent,Silent,Silent,Silent rs10917696 1 163149325 [T/C] NM_003617,NM_001254748,NM_001254749,NM_001195303,NR_110699 RGS5,RGS5,RGS5,RGS5,LOC101928404 Silent,Silent,Silent,Silent,Silent rs4657252 1 163157126 [A/C] NM_003617,NM_001254748,NM_001254749,NM_001195303,NR_110699 RGS5,RGS5,RGS5,RGS5,LOC101928404 Silent,Silent,Silent,Silent,Silent rs7539342 1 163157353 [A/C] NM_003617,NM_001254748,NM_001254749,NM_001195303,NR_110699 RGS5,RGS5,RGS5,RGS5,LOC101928404 Silent,Silent,Silent,Silent,Silent rs7355070 1 163159496 [A/G] NM_003617,NM_001254748,NM_001254749,NM_001195303,NR_110699 RGS5,RGS5,RGS5,RGS5,LOC101928404 Silent,Silent,Silent,Silent,Silent rs12138022 1 163162441 [T/C] NM_003617,NM_001254748,NM_001254749,NM_001195303,NR_110699 RGS5,RGS5,RGS5,RGS5,LOC101928404 Silent,Silent,Silent,Silent,Silent rs2815271 1 163174426 [T/C] NM_001254748,NR_110699 RGS5,LOC101928404 Silent,Silent rs2662770 1 163183944 [A/G] NM_001254748 RGS5 Silent rs1509019 1 163188476 [A/G] NM_001254748 RGS5 Silent rs10917703 1 163197840 [A/C] NM_001254748 RGS5 Silent rs2457185 1 163200062 [T/C] NM_001254748 RGS5 Silent rs2999963 1 163206986 [T/C] NM_001254748 RGS5 Silent rs6664060 1 163218439 [A/G] NM_001254748 RGS5 Silent rs10494390 1 163220797 [T/C] NM_001254748 RGS5 Silent rs7518042 1 163241407 [T/C] NM_001254748 RGS5 Silent rs6679239 1 163251311 [T/C] NM_001254748 RGS5 Silent rs11582919 1 163273585 [T/C] NM_001254748 RGS5 Silent rs2292276 1 163292362 [T/C] NM_145697,NM_031423 NUF2,NUF2 Silent,Silent variant.8109 1 163297276 [A/G] NM_145697,NM_031423 NUF2,NUF2 Silent,Silent rs12691496 1 163297381 [A/G] NM_145697,NM_031423 NUF2,NUF2 Silent,Silent exm119327 1 163298037 [T/C] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_V73A,Missense_V73A variant.8111 1 163298698 [T/G] NM_145697,NM_031423 NUF2,NUF2 Silent,Silent exm119334 1 163306550 [A/G] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_R116Q,Missense_R116Q indel.8112 1 163306624 [I/D] NM_145697,NM_031423 NUF2,NUF2 EXON exm119341 1 163306638 [T/C] NM_145697,NM_031423 NUF2,NUF2 EXON Synonymous_Y145Y,Synonymous_Y145Y variant.8114 1 163306639 [A/G] NM_145697,NM_031423 NUF2,NUF2 Silent,Silent exm119346 1 163307846 [A/G] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_A158T,Missense_A158T exm119356 1 163309266 [T/C] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_T202M,Missense_T202M rs1022058 1 163310510 [T/C] NM_145697,NM_031423 NUF2,NUF2 Silent,Silent rs10799912 1 163313262 [A/G] NM_145697,NM_031423 NUF2,NUF2 Silent,Silent exm119362 1 163313539 [T/C] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_S229L,Missense_S229L exm119365 1 163313568 [A/C] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_S239R,Missense_S239R exm119368 1 163313635 [A/C] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_T261K,Missense_T261K exm119375 1 163317715 [T/C] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_R371C,Missense_R371C variant.8118 1 163318778 [T/C] NM_145697,NM_031423 NUF2,NUF2 EXON Nonsense_R390X,Nonsense_R390X exm119377 1 163318779 [A/G] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_R390Q,Missense_R390Q exm119386 1 163325170 [A/G] NM_145697,NM_031423 NUF2,NUF2 EXON Missense_G436S,Missense_G436S rs1396544 1 163330805 [A/G] rs925219 1 163333429 [A/C] rs3013495 1 163351383 [T/C] rs3010344 1 163351718 [T/G] rs6685251 1 163353790 [A/G] rs3010348 1 163359017 [A/G] rs3010355 1 163369704 [T/C] rs12047638 1 163385492 [A/G] rs7546952 1 163391538 [A/G] NR_104294 LOC100422212 EXON Silent rs12735706 1 163399083 [T/C] rs4657277 1 163416975 [T/G] rs4304553 1 163420014 [A/C] rs12036398 1 163422204 [T/C] rs10917756 1 163422320 [T/G] rs4469696 1 163424565 [T/C] rs4657284 1 163440717 [A/G] rs2791150 1 163452016 [T/C] rs2820568 1 163453047 [A/G] rs2211183 1 163456961 [T/G] rs1890798 1 163457348 [T/C] rs4657294 1 163478287 [A/G] rs12128972 1 163479468 [T/G] rs10799925 1 163480019 [T/G] rs1934523 1 163480551 [A/G] rs1934520 1 163480785 [A/G] rs12035232 1 163487264 [A/G] rs6681222 1 163492132 [T/C] rs10917787 1 163492245 [A/G] rs10799928 1 163494784 [T/C] rs3001083 1 163502326 [A/C] rs2820871 1 163508344 [T/C] rs6674167 1 163511425 [A/G] rs10917799 1 163525477 [A/G] rs2486834 1 163535283 [T/C] exm2265052 1 163538248 [A/G] rs1934533 1 163543441 [A/G] rs12094654 1 163554209 [T/G] rs10917804 1 163558749 [T/C] rs7525601 1 163569354 [T/C] rs10753622 1 163582039 [T/C] rs2345965 1 163604000 [A/C] rs12239576 1 163674732 [T/C] rs1289002 1 163679501 [T/C] rs10799944 1 163697998 [A/G] rs1339453 1 163699103 [A/G] rs10753623 1 163714218 [T/C] rs10737495 1 163736925 [A/G] rs10799961 1 163744838 [A/G] rs13374982 1 163772455 [T/C] exm2268774 1 163781066 [T/C] rs915395 1 163783586 [T/G] rs7533878 1 163795105 [T/C] rs10917855 1 163802280 [T/G] rs12030349 1 163805912 [A/C] rs796694 1 163829349 [A/C] rs884518 1 163836720 [A/G] rs11582225 1 163842143 [T/C] rs16861503 1 163842961 [A/G] rs12120922 1 163850670 [A/C] rs7553359 1 163852034 [A/G] rs1816756 1 163866023 [T/C] rs12139078 1 163886496 [T/G] rs10436885 1 163894487 [T/C] rs7550282 1 163902358 [T/C] rs7511858 1 163907715 [T/C] rs12129997 1 163913755 [T/C] rs10494403 1 163916669 [T/C] rs1858534 1 163941245 [A/G] exm2250122 1 163948373 [A/C] rs1444439 1 163950439 [A/G] rs1122279 1 163953111 [A/G] rs17376111 1 163957638 [T/C] rs7536844 1 164001513 [A/G] rs1289586 1 164006598 [T/C] rs12760871 1 164021052 [A/G] rs10917897 1 164031874 [A/G] rs4085003 1 164046161 [A/C] rs6672232 1 164060002 [T/C] rs4657327 1 164071162 [T/C] rs7533006 1 164078275 [A/G] rs4657329 1 164082055 [A/C] rs10917931 1 164100378 [A/G] rs9787119 1 164119706 [A/G] rs6699905 1 164128348 [T/G] rs12037444 1 164144117 [A/G] rs1361065 1 164149433 [A/C] rs7524933 1 164151402 [A/G] rs11800877 1 164159810 [A/C] rs1415434 1 164173124 [T/G] rs6656557 1 164178654 [A/G] rs4258194 1 164180730 [A/G] rs2346884 1 164184997 [A/G] rs12076657 1 164195785 [T/C] rs7542616 1 164199038 [A/G] rs16826820 1 164207723 [A/G] rs2881506 1 164212456 [A/G] rs1556867 1 164213686 [T/C] rs12075258 1 164216152 [A/G] rs7520925 1 164216796 [T/G] rs7520430 1 164222308 [T/G] rs2881507 1 164226252 [A/G] rs10917967 1 164230383 [A/G] rs10800013 1 164274152 [A/C] rs535988 1 164280278 [A/G] rs531802 1 164284530 [A/C] rs6426865 1 164288668 [A/G] rs2130151 1 164293400 [A/G] rs555908 1 164301943 [T/C] rs1339001 1 164305329 [A/C] rs574944 1 164327833 [T/C] rs2077409 1 164332266 [A/G] rs2077405 1 164332649 [A/C] rs10917994 1 164336084 [T/C] rs7541743 1 164349646 [A/G] rs526421 1 164350468 [T/C] rs1416436 1 164360749 [T/C] rs12043375 1 164365846 [T/C] rs2494388 1 164372210 [T/G] rs10800018 1 164385690 [T/C] rs2821398 1 164392501 [A/G] rs2788526 1 164404171 [T/C] rs1873137 1 164409349 [A/G] rs1387353 1 164414741 [A/G] rs1289727 1 164419479 [T/C] rs11806933 1 164421385 [A/G] rs1416261 1 164447829 [T/C] rs10800024 1 164457615 [T/C] rs16831759 1 164461901 [T/C] rs10918018 1 164474258 [T/C] rs1338626 1 164488457 [T/G] rs946253 1 164496611 [T/C] rs1340519 1 164503366 [A/G] rs11590969 1 164506508 [A/G] rs10918034 1 164509706 [A/G] exm119393 1 164529120 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 EXON Missense_G21S,Missense_G21S,Missense_G21S,Missense_G21S,Silent exm119401 1 164532475 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 EXON Synonymous_R64R,Synonymous_R64R,Synonymous_R64R,Synonymous_R64R,Silent rs10800038 1 164564532 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs2792253 1 164568606 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs11581789 1 164573864 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs6672521 1 164583355 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs1620861 1 164601072 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs1618566 1 164607346 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs6426874 1 164619900 [T/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs12047043 1 164625696 [T/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs2635034 1 164635818 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs2800775 1 164636498 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs1552560 1 164656976 [T/C] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs10800043 1 164658057 [T/C] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs2800798 1 164666253 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs2171692 1 164666940 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs977330 1 164671255 [T/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs12089801 1 164672441 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent exm2268775 1 164684858 [T/C] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs2171691 1 164689328 [T/C] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs2130166 1 164689615 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs7518582 1 164702044 [T/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs11583670 1 164716168 [T/C] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs10918063 1 164720061 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs9660091 1 164732727 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent exm2259837 1 164733504 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs2789444 1 164734457 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs7521521 1 164737549 [T/C] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent exm-rs6670655 1 164739171 [T/C] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130,NR_038072 PBX1,PBX1,PBX1,PBX1,PBX1,LOC100505795 EXON Silent,Silent,Silent,Silent,Silent,Silent rs12737465 1 164743778 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130,NR_038072 PBX1,PBX1,PBX1,PBX1,PBX1,LOC100505795 EXON Silent,Silent,Silent,Silent,Silent,Silent rs10800048 1 164747408 [A/C] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs4657375 1 164764500 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs902038 1 164766209 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs3767371 1 164772640 [T/C] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs956409 1 164786799 [A/G] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs1107531 1 164807929 [T/C] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs10800055 1 164810580 [A/C] NM_001204963,NM_001204961,NM_002585,NM_001353131,NM_001353130 PBX1,PBX1,PBX1,PBX1,PBX1 Silent,Silent,Silent,Silent,Silent rs1361301 1 164825344 [T/C] NM_001353131 PBX1 Silent rs1890535 1 164829035 [A/G] NM_001353131 PBX1 Silent rs10918082 1 164836521 [T/C] NM_001353131 PBX1 Silent rs1934089 1 164844222 [A/C] NM_001353131 PBX1 Silent rs1213293 1 164862175 [A/G] rs10800056 1 164864196 [A/G] rs2488912 1 164864941 [A/G] rs1213285 1 164873859 [A/G] rs1541243 1 164875964 [T/C] rs1936076 1 164879437 [T/C] rs7538001 1 164883887 [T/C] exm2268776 1 164883887 [T/C] rs1936096 1 164899933 [A/G] rs1936090 1 164922082 [A/G] rs1419067 1 164922847 [A/G] rs1891737 1 164928753 [A/C] rs4259623 1 164932033 [A/G] rs4300198 1 164951242 [A/G] rs12726675 1 164951316 [A/G] rs2211479 1 164966447 [T/C] rs1936075 1 164992228 [A/G] exm2259838 1 164995713 [A/G] rs7542261 1 164999850 [T/C] rs7524769 1 165013535 [A/G] exm-rs723821 1 165016712 [A/C] rs1343316 1 165018803 [T/C] rs12048476 1 165037370 [A/G] rs730006 1 165038576 [A/G] rs2881832 1 165047786 [T/C] rs2348108 1 165071376 [T/C] rs10494431 1 165079632 [A/G] rs923937 1 165081033 [T/C] rs6686369 1 165081595 [A/G] rs2172712 1 165087492 [A/G] rs4657400 1 165103961 [A/C] rs4657404 1 165111242 [A/C] rs10494434 1 165117237 [A/G] rs10737505 1 165121286 [T/C] rs10918129 1 165124178 [T/C] rs2348247 1 165131295 [T/G] rs7532137 1 165132051 [A/G] rs2055596 1 165135937 [T/C] rs7548311 1 165137434 [A/G] rs1891927 1 165138246 [A/G] rs6426901 1 165158705 [A/G] rs12029375 1 165166002 [T/C] rs17402900 1 165171677 [T/C] NM_001174069,NM_177398 LMX1A,LMX1A EXON Silent,Silent exm119427 1 165173169 [T/C] NM_001174069,NM_177398 LMX1A,LMX1A EXON Missense_G366E,Missense_G366E exm119436 1 165173272 [T/C] NM_001174069,NM_177398 LMX1A,LMX1A EXON Missense_E332K,Missense_E332K exm119438 1 165175104 [A/G] NM_001174069,NM_177398 LMX1A,LMX1A EXON Missense_Y329H,Missense_Y329H exm119445 1 165175206 [T/G] NM_001174069,NM_177398 LMX1A,LMX1A EXON Missense_T295P,Missense_T295P newrs187240783 1 165179931 [A/G] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent exm-rs1532815 1 165180089 [T/A] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent newrs144209134 1 165182873 [T/C] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent exm119458 1 165182976 [T/C] NM_001174069,NM_177398 LMX1A,LMX1A EXON Missense_D191N,Missense_D191N rs10494438 1 165199023 [A/G] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent rs1394439 1 165213822 [A/G] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent rs1394438 1 165214162 [A/G] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent rs1506946 1 165217356 [A/G] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent rs10753668 1 165218792 [A/G] NM_001174069,NM_177398 LMX1A,LMX1A EXON Synonymous_L117L,Synonymous_L117L rs7519089 1 165244061 [T/C] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent rs1833030 1 165248182 [T/C] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent rs7540476 1 165256014 [T/C] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent rs16842100 1 165258646 [A/G] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent rs10800080 1 165263768 [A/C] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent rs6662349 1 165264856 [A/G] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent rs10732283 1 165267930 [A/G] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent rs16842354 1 165276634 [T/G] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent rs7554002 1 165287003 [A/G] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent rs11809911 1 165288357 [T/C] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent rs6688855 1 165291536 [T/G] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent rs2221246 1 165297637 [T/C] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent rs1948857 1 165297703 [A/C] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent rs1395548 1 165313427 [A/C] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent rs1974080 1 165317996 [A/G] NM_001174069,NM_177398 LMX1A,LMX1A Silent,Silent exm119471 1 165322317 [C/G] NM_001174069,NM_177398 LMX1A,LMX1A EXON Missense_E87Q,Missense_E87Q exm119474 1 165322457 [T/C] NM_001174069,NM_177398 LMX1A,LMX1A EXON Missense_R40Q,Missense_R40Q exm119479 1 165324786 [C/G] NM_001174069,NM_177398 LMX1A,LMX1A EXON Missense_G4A,Missense_G4A rs11590177 1 165340884 [T/C] rs12081765 1 165341849 [A/G] rs12057296 1 165342963 [T/C] rs965743 1 165349087 [A/C] rs10489743 1 165353548 [T/C] rs3767333 1 165372404 [A/G] NM_006917,NM_001256570,NM_001256571 RXRG,RXRG,RXRG Silent,Silent,Silent rs283698 1 165375835 [A/G] NM_006917,NM_001256570,NM_001256571 RXRG,RXRG,RXRG Silent,Silent,Silent rs2134095 1 165377552 [A/G] NM_006917,NM_001256570,NM_001256571 RXRG,RXRG,RXRG EXON Synonymous_V350V,Synonymous_V227V,Synonymous_V227V variant.8123 1 165377557 [T/C] NM_006917,NM_001256570,NM_001256571 RXRG,RXRG,RXRG Silent,Silent,Silent exm119508 1 165380233 [T/C] NM_006917,NM_001256570,NM_001256571 RXRG,RXRG,RXRG EXON Missense_V246I,Missense_V123I,Missense_V123I rs157863 1 165383403 [A/G] NM_006917,NM_001256570,NM_001256571 RXRG,RXRG,RXRG Silent,Silent,Silent rs2281985 1 165386158 [T/C] NM_006917,NM_001256570,NM_001256571 RXRG,RXRG,RXRG Silent,Silent,Silent rs7533324 1 165387533 [T/C] NM_006917,NM_001256570,NM_001256571 RXRG,RXRG,RXRG Silent,Silent,Silent rs157869 1 165388948 [A/G] NM_006917,NM_001256570,NM_001256571 RXRG,RXRG,RXRG Silent,Silent,Silent rs1128977 1 165389129 [A/G] NM_006917,NM_001256570,NM_001256571 RXRG,RXRG,RXRG EXON Synonymous_A140A,Synonymous_A17A,Synonymous_A17A exm119522 1 165389155 [T/C] NM_006917,NM_001256570,NM_001256571 RXRG,RXRG,RXRG EXON Missense_G132R,Missense_G9R,Missense_G9R rs466639 1 165394882 [T/C] NM_006917,NM_001256570 RXRG,RXRG Silent,Silent exm-rs466639 1 165394882 [T/C] NM_006917,NM_001256570 RXRG,RXRG Silent,Silent exm-rs285480 1 165403903 [A/G] NM_006917,NM_001256570 RXRG,RXRG Silent,Silent exm-rs10800098 1 165409095 [A/G] NM_006917,NM_001256570,NR_033824 RXRG,RXRG,RXRG Silent,Silent,Silent rs285481 1 165410468 [T/C] NM_006917,NM_001256570,NR_033824 RXRG,RXRG,RXRG Silent,Silent,Silent rs285482 1 165410723 [T/G] NM_006917,NM_001256570,NR_033824 RXRG,RXRG,RXRG Silent,Silent,Silent rs12088020 1 165421320 [T/C] rs16844995 1 165422305 [T/C] rs878180 1 165422460 [T/C] rs285428 1 165422559 [T/C] rs7519141 1 165425536 [A/G] rs10800102 1 165438912 [T/C] rs285419 1 165440194 [A/G] rs10918196 1 165448157 [T/C] NR_026744 LOC400794 Silent rs285492 1 165461566 [T/C] NR_026744 LOC400794 Silent exm-rs4657449 1 165465281 [A/G] NR_026744 LOC400794 Silent rs7549782 1 165473592 [T/G] NR_026744 LOC400794 Silent rs285473 1 165480347 [T/C] NR_026744 LOC400794 Silent exm2264912 1 165492327 [A/G] NR_026744 LOC400794 Silent rs10737514 1 165497144 [T/C] NR_026744 LOC400794 Silent indel.8124 1 165513621 [D/I] NR_026744,NM_001005214 LOC400794,LRRC52 EXON variant.8125 1 165513660 [T/C] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Nonsense_Q43X newrs114878977 1 165513801 [T/C] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Nonsense_R90X exm119569 1 165513849 [T/C] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Missense_L106F exm1729591 1 165513898 [T/C] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Missense_S122L exm119574 1 165513935 [C/G] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Missense_N134K variant.8127 1 165514156 [A/G] NR_026744,NM_001005214 LOC400794,LRRC52 Silent,Silent rs12750195 1 165525069 [T/C] NR_026744,NM_001005214 LOC400794,LRRC52 Silent,Silent rs454544 1 165531727 [T/C] NR_026744,NM_001005214 LOC400794,LRRC52 Silent,Silent variant.8128 1 165532816 [T/C] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Nonsense_R233X exm119589 1 165532817 [A/G] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Missense_R233Q exm119597 1 165532948 [T/C] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Missense_R277C exm119598 1 165532984 [A/G] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Missense_G289R rs453717 1 165533005 [A/C] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Synonymous_R296R exm1729601 1 165533009 [A/G] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Missense_R297Q exm119601 1 165533023 [A/C] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Missense_Q302K exm119603 1 165533033 [T/C] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Missense_S305L rs16847083 1 165534130 [T/C] NR_026744 LOC400794 Silent rs6679871 1 165563605 [T/C] rs11806754 1 165569064 [T/C] rs11801981 1 165569268 [A/G] rs1337444 1 165589535 [A/G] rs11809495 1 165592722 [A/G] rs6690679 1 165597321 [T/C] rs4147592 1 165600146 [A/G] NM_004528 MGST3 EXON Silent rs4147594 1 165600606 [T/C] NM_004528 MGST3 Silent rs4147595 1 165601215 [C/G] NM_004528 MGST3 Silent newrs9333378 1 165601466 [A/G] NM_004528 MGST3 Silent rs10800120 1 165605310 [A/G] NM_004528 MGST3 Silent rs9333413 1 165609300 [A/G] NM_004528 MGST3 Silent rs9333453 1 165614443 [A/C] NM_004528 MGST3 Silent rs957644 1 165616157 [T/C] NM_004528 MGST3 Silent exm119609 1 165619079 [T/C] NM_004528 MGST3 EXON Silent var_1_165620270 1 165620270 [T/C] NM_004528 MGST3 EXON Missense_T46M exm119611 1 165620270 [T/C] NM_004528 MGST3 EXON Missense_T46M rs2271657 1 165620602 [G/C] NM_004528 MGST3 Silent rs11799886 1 165620792 [A/G] NM_004528 MGST3 Silent exm119620 1 165621265 [A/C] NM_004528 MGST3 EXON Missense_Y81S exm119621 1 165621267 [T/C] NM_004528 MGST3 EXON Missense_H82Y exm119633 1 165624698 [C/G] NM_004528 MGST3 EXON Missense_W139S rs8133 1 165624799 [T/G] NM_004528 MGST3 EXON Silent rs4147611 1 165625023 [T/G] NM_004528 MGST3 EXON Silent rs10800125 1 165628921 [A/G] rs6668102 1 165631123 [A/G] kgp1039182 1 165631506 [A/G] NM_000696 ALDH9A1 EXON Silent rs12670 1 165631670 [T/G] NM_000696 ALDH9A1 EXON Silent kgp4651032 1 165631724 [T/C] NM_000696 ALDH9A1 EXON Silent kgp15783294 1 165632045 [T/G] NM_000696 ALDH9A1 EXON Silent exm119642 1 165632360 [T/C] NM_000696 ALDH9A1 EXON Missense_R495H newrs140134210 1 165634254 [T/C] NM_000696 ALDH9A1 Silent exm119648 1 165634302 [T/C] NM_000696 ALDH9A1 EXON Missense_Y472C exm119650 1 165634336 [T/C] NM_000696 ALDH9A1 EXON Missense_E461K kgp4565507 1 165634336 [T/C] NM_000696 ALDH9A1 EXON Missense_E461K exm119657 1 165638192 [T/C] NM_000696 ALDH9A1 EXON Missense_D393G exm2231725 1 165638229 [T/C] NM_000696 ALDH9A1 EXON Missense_G381R exm119661 1 165638548 [T/C] NM_000696 ALDH9A1 EXON Missense_R357Q rs12065621 1 165639264 [A/G] NM_000696 ALDH9A1 Silent rs10918239 1 165644865 [T/C] NM_000696 ALDH9A1 Silent variant.8137 1 165648678 [A/C] NM_000696 ALDH9A1 Silent kgp410055 1 165648709 [T/C] NM_000696 ALDH9A1 EXON Synonymous_A300A exm119668 1 165648710 [A/G] NM_000696 ALDH9A1 EXON Missense_A300V indel.8138 1 165648744 [D/I] NM_000696 ALDH9A1 EXON exm119677 1 165649771 [T/C] NM_000696 ALDH9A1 EXON Missense_D248N exm119681 1 165649851 [G/C] NM_000696 ALDH9A1 EXON Missense_S221T exm119683 1 165649860 [T/G] NM_000696 ALDH9A1 EXON Missense_E218A var_1_165652261 1 165652261 [T/C] NM_000696 ALDH9A1 EXON Nonsense_W138X exm1729853 1 165652272 [T/C] NM_000696 ALDH9A1 EXON Missense_D135N rs1143659 1 165652273 [A/G] NM_000696 ALDH9A1 EXON Synonymous_I134I exm119692 1 165652283 [T/C] NM_000696 ALDH9A1 EXON Missense_R131H kgp15821543 1 165652301 [T/G] NM_000696 ALDH9A1 EXON Missense_K125T exm119698 1 165652343 [T/C] NM_000696 ALDH9A1 EXON Missense_R111Q rs4646886 1 165658091 [A/C] NM_000696 ALDH9A1 Silent rs1538115 1 165658750 [A/G] NM_000696 ALDH9A1 Silent rs17482717 1 165663798 [A/G] NM_000696 ALDH9A1 Silent exm119705 1 165664552 [T/C] NM_000696 ALDH9A1 EXON Missense_I88M newrs146792904 1 165664632 [A/G] NM_000696 ALDH9A1 EXON Nonsense_R62X exm119711 1 165667614 [C/G] NM_000696 ALDH9A1 Silent exm119716 1 165667711 [T/C] NM_000696 ALDH9A1 EXON Missense_T29A exm119717 1 165667714 [T/C] NM_000696 ALDH9A1 EXON Missense_G28S exm119720 1 165667770 [C/G] NM_000696 ALDH9A1 EXON Missense_A9G exm119723 1 165667795 [T/G] NM_000696 ALDH9A1 EXON Missense_M1L rs12043815 1 165677216 [A/G] NR_036683 LOC440700 Silent rs12062372 1 165683487 [A/G] rs4656461 1 165687205 [A/G] exm-rs4656461 1 165687205 [A/G] exm119730 1 165697319 [T/C] NM_019026,NM_001256164,NM_001256165,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 EXON Missense_A221T,Missense_A187T,Missense_A158T,Silent exm1729920 1 165697325 [A/G] NM_019026,NM_001256164,NM_001256165,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 EXON Nonsense_R219X,Nonsense_R185X,Nonsense_R156X,Silent exm2268777 1 165702346 [T/C] NM_019026,NM_001256164,NM_001256165,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 Silent,Silent,Silent,Silent rs10918271 1 165704732 [T/C] NM_019026,NM_001256164,NM_001256165,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 Silent,Silent,Silent,Silent rs7555523 1 165718979 [A/C] NM_019026,NM_001256164,NM_001256165,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 Silent,Silent,Silent,Silent exm119736 1 165721403 [A/G] NM_019026,NM_001256164,NM_001256165,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 EXON Nonsense_R138X,Nonsense_R104X,Nonsense_R75X,Silent rs10918276 1 165726670 [A/C] NM_019026,NM_001256164,NM_001256165,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 Silent,Silent,Silent,Silent rs10918281 1 165734088 [A/G] NM_019026,NM_001256164,NM_001256165,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 Silent,Silent,Silent,Silent rs2153264 1 165787477 [A/G] rs10800160 1 165799022 [A/G] NM_012474,NM_001363568 UCK2,UCK2 Silent,Silent rs6702462 1 165812120 [A/C] NM_012474,NM_001363568 UCK2,UCK2 Silent,Silent rs4535982 1 165815939 [T/C] NM_012474,NM_001363568 UCK2,UCK2 Silent,Silent rs10494448 1 165831128 [A/C] NM_012474,NM_001363568 UCK2,UCK2 Silent,Silent exm-rs4657482 1 165831649 [A/G] NM_012474,NM_001363568 UCK2,UCK2 Silent,Silent rs12066877 1 165832085 [T/G] NM_012474,NM_001363568 UCK2,UCK2 Silent,Silent rs6703280 1 165840411 [T/C] NM_012474,NM_001363568 UCK2,UCK2 Silent,Silent exm1730167 1 165859549 [T/G] NM_012474,NM_001363568 UCK2,UCK2 EXON Missense_S70A,Missense_S49A exm119748 1 165859599 [A/G] NM_012474,NM_001363568 UCK2,UCK2 EXON Synonymous_P86P,Synonymous_P65P rs3762365 1 165860813 [A/C] NM_012474,NM_001363568 UCK2,UCK2 Silent,Silent rs6681761 1 165868887 [T/C] NM_012474,NM_001363568 UCK2,UCK2 Silent,Silent rs4656467 1 165871705 [A/G] NM_012474,NM_001363568 UCK2,UCK2 Silent,Silent variant.8146 1 165872435 [T/C] NM_012474,NM_001363568 UCK2,UCK2 EXON Synonymous_S172S,Synonymous_S151S exm119762 1 165872479 [T/C] NM_012474,NM_001363568 UCK2,UCK2 EXON Missense_T187M,Missense_T166M rs3790672 1 165873392 [T/C] NM_012474,NM_001363568 UCK2,UCK2 Silent,Silent exm2250165 1 165877003 [T/C] NM_012474,NM_001363568 UCK2,UCK2 EXON Synonymous_N243N,Synonymous_N222N rs12063037 1 165891978 [T/G] rs472888 1 165896757 [T/C] rs1934272 1 165897797 [T/C] rs1663839 1 165899981 [T/G] rs7525707 1 165904700 [A/G] rs11577887 1 165906819 [T/G] rs6658459 1 165917032 [T/G] rs4657493 1 165917109 [T/G] rs10800173 1 165928052 [A/G] rs9426841 1 165967961 [A/G] rs11585763 1 165992161 [T/C] rs6692476 1 165992212 [T/C] rs6426960 1 165994886 [T/G] rs6426962 1 165996331 [A/C] rs10753700 1 166011666 [A/G] rs4657510 1 166027277 [T/C] NM_001320302,NR_135199 FAM78B,FAM78B EXON Silent,Silent rs11581600 1 166028795 [T/C] NM_001320302,NR_135199 FAM78B,FAM78B EXON Silent,Silent rs7541280 1 166030786 [A/G] NM_001320302,NR_135199 FAM78B,FAM78B Silent,Silent rs4074017 1 166036621 [T/C] NM_001320302,NR_135199 FAM78B,FAM78B Silent,Silent rs3856211 1 166037909 [T/C] NM_001320302,NR_135199 FAM78B,FAM78B Silent,Silent exm119769 1 166039512 [T/C] NM_001320302,NR_135199,NM_001017961 FAM78B,FAM78B,FAM78B EXON Silent,Silent,Missense_R251Q exm119774 1 166039602 [T/C] NM_001320302,NR_135199,NM_001017961 FAM78B,FAM78B,FAM78B EXON Silent,Silent,Missense_R221Q exm119779 1 166039699 [T/C] NM_001320302,NR_135199,NM_001017961 FAM78B,FAM78B,FAM78B EXON Silent,Silent,Missense_I189V exm119781 1 166039715 [A/C] NM_001320302,NR_135199,NM_001017961 FAM78B,FAM78B,FAM78B EXON Silent,Silent,Missense_K183N exm119785 1 166039891 [T/C] NM_001320302,NR_135199,NM_001017961 FAM78B,FAM78B,FAM78B EXON Silent,Silent,Missense_V125I exm119788 1 166039954 [T/C] NM_001320302,NR_135199,NM_001017961 FAM78B,FAM78B,FAM78B EXON Silent,Silent,Missense_I104V rs6426964 1 166041169 [A/G] NM_001320302,NR_135199,NM_001017961 FAM78B,FAM78B,FAM78B Silent,Silent,Silent rs7524575 1 166045424 [A/G] NM_001320302,NR_135199,NM_001017961 FAM78B,FAM78B,FAM78B Silent,Silent,Silent rs10918345 1 166065145 [A/C] NM_001320302,NR_135199,NM_001017961 FAM78B,FAM78B,FAM78B Silent,Silent,Silent rs4074897 1 166086171 [A/G] NM_001320302,NR_135199,NM_001017961 FAM78B,FAM78B,FAM78B Silent,Silent,Silent rs12756802 1 166087578 [T/C] NM_001320302,NR_135199,NM_001017961 FAM78B,FAM78B,FAM78B Silent,Silent,Silent rs7551912 1 166119344 [T/G] NM_001320302,NR_135199,NM_001017961 FAM78B,FAM78B,FAM78B Silent,Silent,Silent rs1451599 1 166124599 [A/G] NM_001320302,NR_135199,NM_001017961 FAM78B,FAM78B,FAM78B Silent,Silent,Silent rs2116519 1 166130218 [A/G] NM_001320302,NR_135199,NM_001017961 FAM78B,FAM78B,FAM78B Silent,Silent,Silent rs987131 1 166136474 [A/G] exm2265055 1 166169203 [A/G] rs896404 1 166175936 [T/C] rs4391646 1 166177384 [T/C] rs6659816 1 166185037 [A/C] rs7543144 1 166191677 [A/G] rs10918416 1 166221811 [T/G] rs6658303 1 166226685 [A/G] rs1432120 1 166228386 [T/C] rs2871591 1 166241579 [T/G] rs1545007 1 166250778 [T/C] rs7524473 1 166251059 [A/G] exm2264913 1 166268048 [A/G] rs16856889 1 166269296 [A/G] rs4282794 1 166270695 [A/G] rs16856896 1 166272394 [A/G] rs6426991 1 166286486 [A/G] rs9943264 1 166299138 [A/G] rs12063590 1 166303632 [T/C] rs10494458 1 166304410 [A/G] rs9970244 1 166305834 [T/G] rs7543439 1 166308210 [T/C] rs12024710 1 166308592 [A/C] rs6426996 1 166331478 [A/G] rs7547839 1 166334060 [T/C] rs10800219 1 166336254 [A/G] rs3924947 1 166336660 [A/G] rs12095056 1 166337053 [T/C] rs4542197 1 166364063 [T/G] rs7545852 1 166388391 [A/G] rs1389779 1 166389338 [A/G] rs6427004 1 166399575 [A/G] rs10918467 1 166415259 [T/C] rs11589054 1 166418076 [A/G] rs7549089 1 166431020 [T/C] rs12566754 1 166444011 [T/C] rs10918477 1 166444655 [T/C] rs10918481 1 166451443 [T/C] NR_146890 LINC01675 Silent rs2172714 1 166452024 [A/G] NR_146890 LINC01675 Silent rs7552777 1 166456704 [T/C] NR_146890 LINC01675 Silent rs7544608 1 166458160 [A/C] NR_146890 LINC01675 Silent rs6658665 1 166460696 [A/G] rs7514715 1 166468429 [T/C] rs10753736 1 166479898 [A/G] rs16857234 1 166482753 [A/G] rs12097144 1 166483531 [T/C] rs11579746 1 166486813 [T/C] rs6695015 1 166489143 [A/G] rs12119773 1 166493556 [A/C] rs10918527 1 166532565 [A/G] rs7516525 1 166539001 [T/C] rs10918532 1 166545275 [T/C] rs17431003 1 166545748 [A/G] rs7539202 1 166552723 [T/C] rs509587 1 166556638 [T/C] rs528816 1 166565815 [A/G] rs510265 1 166568908 [T/G] rs6427019 1 166573473 [T/C] NR_002925 FMO9P Silent rs530690 1 166579080 [T/C] NR_002925 FMO9P Silent rs553928 1 166581706 [A/G] NR_002925 FMO9P EXON Silent rs17472444 1 166591271 [T/C] NR_002925 FMO9P Silent rs2065920 1 166603023 [A/G] rs481045 1 166603496 [T/C] rs3910715 1 166616786 [T/C] rs3845541 1 166618118 [T/G] rs530303 1 166623180 [T/G] rs558843 1 166634216 [T/C] rs563457 1 166634709 [A/G] rs539482 1 166640279 [A/G] rs472293 1 166640635 [T/C] exm2268778 1 166652275 [T/C] rs4657583 1 166652275 [T/C] rs11807188 1 166656798 [T/C] rs579100 1 166674289 [A/C] rs12048648 1 166674984 [A/G] rs4656506 1 166675316 [T/C] rs1855834 1 166693545 [T/C] rs487726 1 166707143 [T/C] rs10918573 1 166718884 [A/G] rs564138 1 166721207 [A/G] rs7549229 1 166729339 [T/C] rs563244 1 166730775 [A/C] rs562445 1 166730812 [T/C] rs577965 1 166746775 [T/G] rs858802 1 166767772 [A/G] rs12131167 1 166774303 [A/G] rs858818 1 166774997 [T/C] rs2205647 1 166778754 [A/C] rs2064067 1 166782438 [T/C] rs12040139 1 166798529 [T/G] exm119823 1 166810206 [T/G] NM_017542,NM_001314014 POGK,POGK EXON Missense_A5S,Silent exm119825 1 166810264 [A/G] NM_017542,NM_001314014 POGK,POGK EXON Missense_R24Q,Silent exm119830 1 166815934 [A/G] NM_017542,NM_001314014 POGK,POGK EXON Missense_R73Q,Silent exm119835 1 166816813 [A/C] NM_017542,NM_001314014 POGK,POGK EXON Missense_Q114H,Silent exm119837 1 166818192 [A/G] NM_017542,NM_001314014 POGK,POGK EXON Missense_V126I,Missense_V8I exm119839 1 166818273 [T/C] NM_017542,NM_001314014 POGK,POGK EXON Missense_R153C,Missense_R35C exm119844 1 166818363 [G/C] NM_017542,NM_001314014 POGK,POGK EXON Missense_A183P,Missense_A65P exm119872 1 166819103 [A/T] NM_017542,NM_001314014 POGK,POGK EXON Missense_S429R,Missense_S311R exm119878 1 166819349 [A/C] NM_017542,NM_001314014 POGK,POGK EXON Nonsense_Y511X,Nonsense_Y393X exm119884 1 166819585 [T/C] NM_017542,NM_001314014 POGK,POGK EXON Missense_L590S,Missense_L472S variant.8148 1 166819661 [A/G] NM_017542,NM_001314014 POGK,POGK Silent,Silent rs6675033 1 166826655 [T/C] NM_053053 TADA1 EXON Silent exm119889 1 166826838 [T/C] NM_053053 TADA1 EXON Missense_R325H exm119890 1 166826839 [A/G] NM_053053 TADA1 EXON Missense_R325C variant.8149 1 166827356 [T/C] NM_053053 TADA1 EXON Synonymous_Q285Q rs12562794 1 166828957 [A/G] NM_053053 TADA1 Silent exm119904 1 166829517 [A/G] NM_053053 TADA1 EXON Nonsense_R200X exm119905 1 166829522 [T/C] NM_053053 TADA1 EXON Missense_R198Q indel.8151 1 166831472 [D/I] NM_053053 TADA1 EXON rs4656517 1 166856059 [A/G] rs2223221 1 166860471 [T/C] rs1053407 1 166882737 [T/C] NM_199351 ILDR2 EXON Silent rs11108 1 166885604 [A/C] NM_199351 ILDR2 EXON Silent newrs150392323 1 166888532 [D/I] NM_199351 ILDR2 EXON exm119961 1 166890573 [G/C] NM_199351 ILDR2 EXON Missense_A419P exm1731417 1 166890616 [G/C] NM_199351 ILDR2 EXON Missense_S404R exm119965 1 166891884 [T/C] NM_199351 ILDR2 EXON Missense_R386H exm119967 1 166892001 [T/C] NM_199351 ILDR2 EXON Missense_S347N exm119974 1 166896415 [A/G] NM_199351 ILDR2 EXON Missense_R295C exm119979 1 166905927 [T/C] NM_199351 ILDR2 EXON Missense_V202I exm119985 1 166908766 [T/C] NM_199351 ILDR2 EXON Missense_V181M rs6427047 1 166914258 [A/G] NM_199351 ILDR2 Silent newrs141350747 1 166927084 [A/G] NM_199351 ILDR2 EXON Nonsense_R101X exm120004 1 166927278 [T/C] NM_199351 ILDR2 EXON Missense_Q36R rs2075982 1 166929527 [T/G] NM_199351 ILDR2 Silent rs7545911 1 166947681 [A/G] NM_001286378 MAEL Silent exm120016 1 166958710 [T/G] NM_001286378,NM_032858,NM_001286377 MAEL,MAEL,MAEL EXON Silent,Missense_S41A,Missense_S41A rs11578336 1 166958710 [T/G] NM_001286378,NM_032858,NM_001286377 MAEL,MAEL,MAEL EXON Silent,Missense_S41A,Missense_S41A exm120017 1 166958715 [C/G] NM_001286378,NM_032858,NM_001286377 MAEL,MAEL,MAEL EXON Silent,Missense_D42E,Missense_D42E 1KG_1_166960707 1 166960707 [D/I] NM_001286378,NM_032858,NM_001286377 MAEL,MAEL,MAEL EXON newrs139253424 1 166960715 [A/G] NM_001286378,NM_032858,NM_001286377 MAEL,MAEL,MAEL Silent,Silent,Silent exm120034 1 166961994 [A/C] NM_001286378,NM_032858,NM_001286377 MAEL,MAEL,MAEL EXON Missense_R77S,Missense_R133S,Missense_R102S exm120035 1 166961995 [A/G] NM_001286378,NM_032858,NM_001286377 MAEL,MAEL,MAEL EXON Missense_R77H,Missense_R133H,Missense_R102H exm120036 1 166962048 [A/G] NM_001286378,NM_032858,NM_001286377 MAEL,MAEL,MAEL EXON Missense_M95V,Missense_M151V,Missense_M120V exm120039 1 166963277 [A/G] NM_001286378,NM_032858,NM_001286377 MAEL,MAEL,MAEL EXON Missense_R109Q,Missense_R165Q,Missense_R134Q exm120046 1 166973528 [A/C] NM_001286378,NM_032858,NM_001286377 MAEL,MAEL,MAEL EXON Missense_P156H,Missense_P212H,Missense_P181H variant.8159 1 166974510 [T/C] NM_001286378,NM_032858,NM_001286377 MAEL,MAEL,MAEL EXON Nonsense_Q185X,Nonsense_Q241X,Nonsense_Q210X indel.8160 1 166974572 [D/I] NM_001286378,NM_032858,NM_001286377 MAEL,MAEL,MAEL EXON rs6693185 1 166978035 [A/G] NM_001286378,NM_032858,NM_001286377 MAEL,MAEL,MAEL Silent,Silent,Silent rs1952313 1 166980583 [A/G] NM_001286378,NM_032858,NM_001286377 MAEL,MAEL,MAEL Silent,Silent,Silent exm120060 1 166990359 [A/G] NM_001286378,NM_032858,NM_001286377 MAEL,MAEL,MAEL EXON Missense_N304S,Missense_N360S,Missense_N329S exm120065 1 166990950 [T/C] NM_001286378,NM_032858,NM_001286377 MAEL,MAEL,MAEL EXON Missense_V332A,Missense_V388A,Missense_V357A exm120069 1 166990992 [A/G] NM_001286378,NM_032858,NM_001286377 MAEL,MAEL,MAEL EXON Missense_N346S,Missense_N402S,Missense_N371S rs10918610 1 166997021 [T/C] rs17433906 1 167016898 [A/G] exm2250190 1 167021041 [T/C] rs11736 1 167022262 [T/G] NM_005814 GPA33 EXON Silent rs12461 1 167022381 [A/G] NM_005814 GPA33 EXON Silent exm120081 1 167023590 [A/G] NM_005814 GPA33 EXON Missense_P314L exm120086 1 167023680 [A/G] NM_005814 GPA33 EXON Missense_P284L exm120088 1 167024212 [A/C] NM_005814 GPA33 Silent rs6666045 1 167024631 [T/C] NM_005814 GPA33 Silent exm120099 1 167025050 [A/G] NM_005814 GPA33 EXON Missense_T203I exm1731529 1 167032848 [A/G] NM_005814 GPA33 EXON Missense_L181P exm120107 1 167032895 [A/C] NM_005814 GPA33 EXON Missense_K165N exm120109 1 167032908 [T/G] NM_005814 GPA33 EXON Missense_T161N rs4657629 1 167034382 [A/G] NM_005814 GPA33 Silent exm120117 1 167038173 [T/C] NM_005814 GPA33 EXON Missense_R134H exm120120 1 167038219 [A/C] NM_005814 GPA33 EXON Missense_V119F indel.8165 1 167038306 [I/D] NM_005814 GPA33 EXON exm2275515 1 167038356 [A/G] NM_005814 GPA33 EXON Missense_P73L rs2312489 1 167040788 [A/C] NM_005814 GPA33 Silent exm120134 1 167042622 [T/C] NM_005814 GPA33 EXON Synonymous_T66T newrs148369513 1 167042622 [T/C] NM_005814 GPA33 EXON Synonymous_T66T rs2274531 1 167042762 [T/C] NM_005814 GPA33 EXON Missense_D20N exm120141 1 167042762 [T/C] NM_005814 GPA33 EXON Missense_D20N exm120143 1 167042765 [T/C] NM_005814 GPA33 EXON Missense_V19I rs12131781 1 167050565 [A/G] NM_005814 GPA33 Silent rs1041236 1 167054980 [T/C] NM_005814 GPA33 Silent exm120147 1 167059511 [A/G] NM_005814 GPA33 EXON Missense_M5T rs2281962 1 167059760 [A/G] NM_005814 GPA33 EXON Silent rs2281960 1 167059833 [A/G] NM_005814 GPA33 EXON Silent exm1731624 1 167064097 [A/G] NM_001080426 DUSP27 EXON Missense_R4K rs11588401 1 167069155 [T/C] NM_001080426 DUSP27 Silent rs1590721 1 167070658 [T/C] NM_001080426 DUSP27 Silent rs12122365 1 167082869 [A/G] NM_001080426 DUSP27 Silent exm120168 1 167086594 [A/G] NM_001080426 DUSP27 EXON Missense_A79T exm120170 1 167086622 [G/C] NM_001080426 DUSP27 EXON Missense_A88G exm120181 1 167086718 [A/G] NM_001080426 DUSP27 EXON Missense_R120Q exm120182 1 167086721 [A/C] NM_001080426 DUSP27 EXON Missense_A121D rs1410244 1 167088473 [A/C] NM_001080426 DUSP27 Silent exm120196 1 167088659 [A/G] NM_001080426 DUSP27 EXON Missense_R204Q exm120203 1 167095137 [A/G] NM_001080426 DUSP27 EXON Missense_K257E exm120205 1 167095163 [C/G] NM_001080426 DUSP27 EXON Missense_E265D exm1731707 1 167095278 [A/G] NM_001080426 DUSP27 EXON Missense_M304V exm120212 1 167095323 [A/G] NM_001080426 DUSP27 EXON Missense_D319N exm120213 1 167095338 [A/C] NM_001080426 DUSP27 EXON Missense_L324M exm120218 1 167095468 [A/C] NM_001080426 DUSP27 EXON Missense_Q367P exm1731712 1 167095564 [A/G] NM_001080426 DUSP27 EXON Missense_R399Q exm1731713 1 167095588 [A/G] NM_001080426 DUSP27 EXON Missense_G407E exm2273714 1 167095691 [A/G] NM_001080426 DUSP27 EXON Synonymous_E441E exm120240 1 167095765 [A/G] NM_001080426 DUSP27 EXON Missense_R466H exm120241 1 167095777 [T/C] NM_001080426 DUSP27 EXON Missense_S470L exm120243 1 167095786 [T/C] NM_001080426 DUSP27 EXON Missense_S473L exm120244 1 167095812 [A/G] NM_001080426 DUSP27 EXON Missense_E482K exm120245 1 167095881 [A/G] NM_001080426 DUSP27 EXON Missense_A505T exm1731717 1 167096070 [A/G] NM_001080426 DUSP27 EXON Missense_G568S exm1731718 1 167096241 [T/C] NM_001080426 DUSP27 EXON Missense_R625W exm120265 1 167096275 [T/C] NM_001080426 DUSP27 EXON Missense_T636M exm120269 1 167096337 [A/G] NM_001080426 DUSP27 EXON Missense_I657V exm120275 1 167096379 [A/G] NM_001080426 DUSP27 EXON Missense_A671T exm120279 1 167096395 [T/C] NM_001080426 DUSP27 EXON Missense_T676M exm120282 1 167096484 [A/C] NM_001080426 DUSP27 EXON Missense_P706T exm120286 1 167096554 [A/G] NM_001080426 DUSP27 EXON Missense_N729S exm120287 1 167096607 [T/C] NM_001080426 DUSP27 EXON Missense_R747C exm120288 1 167096608 [A/G] NM_001080426 DUSP27 EXON Missense_R747H exm120296 1 167096698 [T/C] NM_001080426 DUSP27 EXON Missense_S777F exm120297 1 167096726 [C/G] NM_001080426 DUSP27 EXON Missense_Q786H var_1_167096898 1 167096898 [T/C] NM_001080426 DUSP27 EXON Nonsense_Q844X exm120311 1 167096931 [A/C] NM_001080426 DUSP27 EXON Missense_K855Q exm120313 1 167096961 [T/C] NM_001080426 DUSP27 EXON Missense_R865C exm120314 1 167096982 [A/G] NM_001080426 DUSP27 EXON Missense_K872E exm120315 1 167096997 [A/G] NM_001080426 DUSP27 EXON Missense_D877N exm120318 1 167097026 [A/T] NM_001080426 DUSP27 EXON Missense_D886E exm2231741 1 167097069 [T/C] NM_001080426 DUSP27 EXON Missense_R901C exm120321 1 167097070 [A/G] NM_001080426 DUSP27 EXON Missense_R901H exm120328 1 167097230 [A/G] NM_001080426 DUSP27 EXON Nonsense_W954X exm1731724 1 167097384 [T/C] NM_001080426 DUSP27 EXON Missense_R1006W exm120333 1 167097431 [A/C] NM_001080426 DUSP27 EXON Missense_F1021L 1KG_1_167097500 1 167097500 [I/D] NM_001080426 DUSP27 EXON exm120341 1 167097543 [T/C] NM_001080426 DUSP27 EXON Missense_R1059C exm120343 1 167097567 [A/G] NM_001080426 DUSP27 EXON Missense_D1067N exm120345 1 167097600 [G/C] NM_001080426 DUSP27 EXON Missense_D1078H indel.8183 1 167097664 [D/I] NM_001080426 DUSP27 EXON exm120351 1 167097739 [A/C] NM_001080426 DUSP27 EXON Missense_T1124N rs2281959 1 167097739 [A/C] NM_001080426 DUSP27 EXON Missense_T1124N exm120357 1 167097796 [A/G] NM_001080426 DUSP27 EXON Missense_R1143H exm120358 1 167097799 [A/G] NM_001080426 DUSP27 EXON Missense_R1144Q exm120360 1 167097826 [A/G] NM_001080426 DUSP27 EXON Missense_Q1153R rs7540969 1 167103023 [T/C] rs10918638 1 167111494 [A/G] rs11591049 1 167124187 [T/C] rs6427069 1 167124834 [T/C] rs869714 1 167126250 [T/C] rs904224 1 167126309 [T/G] rs1032608 1 167131321 [T/C] rs1027493 1 167132882 [T/C] rs748800 1 167136728 [A/G] rs7548201 1 167150538 [T/C] NR_110811 LINC01363 Silent rs9803659 1 167156500 [T/C] NR_110811 LINC01363 Silent exm-rs9803659 1 167156500 [T/C] NR_110811 LINC01363 Silent exm2259843 1 167160515 [T/C] NR_110811 LINC01363 Silent rs7529557 1 167168408 [T/G] rs2173296 1 167211104 [A/G] NM_002697,NM_001198786,NR_037163 POU2F1,POU2F1,POU2F1 Silent,Silent,Silent rs12068411 1 167218385 [T/C] NM_002697,NM_001198786,NR_037163 POU2F1,POU2F1,POU2F1 Silent,Silent,Silent rs10800299 1 167247473 [T/C] NM_002697,NM_001198786,NR_037163 POU2F1,POU2F1,POU2F1 Silent,Silent,Silent rs11584337 1 167248664 [T/G] NM_002697,NM_001198786,NR_037163 POU2F1,POU2F1,POU2F1 Silent,Silent,Silent rs266820 1 167256468 [T/C] NM_002697,NM_001198786,NR_037163 POU2F1,POU2F1,POU2F1 Silent,Silent,Silent rs4656538 1 167259755 [A/G] NM_002697,NM_001198786,NR_037163 POU2F1,POU2F1,POU2F1 Silent,Silent,Silent rs12755766 1 167267066 [T/G] NM_002697,NM_001198786,NR_037163 POU2F1,POU2F1,POU2F1 Silent,Silent,Silent rs6677499 1 167269209 [A/G] NM_002697,NM_001198786,NR_037163 POU2F1,POU2F1,POU2F1 Silent,Silent,Silent variant.8184 1 167339452 [T/G] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 Silent,Silent,Silent,Silent rs3736846 1 167339632 [A/C] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 Silent,Silent,Silent,Silent exm120384 1 167341211 [T/C] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 EXON Missense_P114S,Missense_P114S,Silent,Missense_P103S exm120391 1 167343454 [T/C] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 EXON Missense_A171V,Silent,Silent,Missense_A160V rs2093658 1 167355192 [T/C] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 Silent,Silent,Silent,Silent exm120407 1 167358837 [A/G] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 EXON Missense_T276A,Missense_T213A,Silent,Missense_T265A exm120408 1 167358840 [T/C] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 EXON Missense_R277C,Missense_R214C,Silent,Missense_R266C exm2250196 1 167381230 [T/C] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 EXON Synonymous_T530T,Synonymous_T467T,Silent,Synonymous_T519T exm120426 1 167381230 [T/C] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 EXON Synonymous_T530T,Synonymous_T467T,Silent,Synonymous_T519T exm120448 1 167384979 [T/C] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 EXON Missense_S745P,Missense_S682P,Silent,Missense_S734P rs870875 1 167399734 [A/C] exm120460 1 167402295 [T/C] NM_198053,NM_000734 CD247,CD247 EXON Missense_R132H,Missense_R131H newrs55729925 1 167404671 [A/G] NM_198053,NM_000734 CD247,CD247 EXON Nonsense_Q101X,Silent exm120476 1 167404671 [A/G] NM_198053,NM_000734 CD247,CD247 EXON Nonsense_Q101X,Silent exm120479 1 167407819 [A/C] NM_198053,NM_000734 CD247,CD247 EXON Missense_M96I,Missense_M96I exm1732263 1 167407856 [T/C] NM_198053,NM_000734 CD247,CD247 EXON Missense_D84G,Missense_D84G rs2258497 1 167408073 [A/C] NM_198053,NM_000734 CD247,CD247 Silent,Silent exm-rs840016 1 167408670 [T/C] NM_198053,NM_000734 CD247,CD247 Silent,Silent exm120494 1 167409915 [A/G] NM_198053,NM_000734 CD247,CD247 EXON Missense_F50L,Missense_F50L exm-rs864537 1 167411384 [A/G] NM_198053,NM_000734 CD247,CD247 Silent,Silent rs864537 1 167411384 [A/G] NM_198053,NM_000734 CD247,CD247 Silent,Silent exm-rs2056626 1 167420425 [T/G] NM_198053,NM_000734 CD247,CD247 Silent,Silent rs2988276 1 167431403 [T/C] NM_198053,NM_000734 CD247,CD247 Silent,Silent rs1723016 1 167433056 [T/C] NM_198053,NM_000734 CD247,CD247 Silent,Silent rs10918695 1 167437953 [T/C] NM_198053,NM_000734 CD247,CD247 Silent,Silent rs2995093 1 167445001 [A/G] NM_198053,NM_000734 CD247,CD247 Silent,Silent rs2949655 1 167451850 [A/G] NM_198053,NM_000734 CD247,CD247 Silent,Silent rs16859085 1 167453334 [A/G] NM_198053,NM_000734 CD247,CD247 Silent,Silent rs858553 1 167455145 [A/G] NM_198053,NM_000734 CD247,CD247 Silent,Silent rs10918706 1 167466121 [T/C] NM_198053,NM_000734 CD247,CD247 Silent,Silent rs2982484 1 167477937 [T/C] NM_198053,NM_000734 CD247,CD247 Silent,Silent rs858550 1 167479765 [A/C] NM_198053,NM_000734 CD247,CD247 Silent,Silent rs2982479 1 167484888 [T/G] NM_198053,NM_000734 CD247,CD247 Silent,Silent rs2794984 1 167494622 [T/G] rs6664958 1 167496303 [A/G] rs1737498 1 167499158 [A/G] rs7539688 1 167503548 [T/C] rs16859159 1 167507857 [A/G] exm120507 1 167515350 [T/A] NM_003851 CREG1 EXON Missense_N216I variant.8188 1 167515403 [T/C] NM_003851 CREG1 EXON Nonsense_W198X exm120512 1 167515425 [T/C] NM_003851 CREG1 EXON Missense_K191R rs1737487 1 167523387 [T/C] rs1737481 1 167527216 [A/G] rs1737476 1 167530546 [T/C] exm2250198 1 167531272 [A/G] rs16859247 1 167536744 [T/C] rs16859250 1 167537676 [T/G] rs12032767 1 167545780 [T/C] rs7513712 1 167546460 [A/G] rs767707 1 167560542 [A/G] rs6701488 1 167562816 [A/C] rs7514302 1 167569730 [T/G] rs12039995 1 167571496 [A/G] rs11809621 1 167585884 [T/G] rs1229403 1 167589943 [T/C] rs926521 1 167592532 [T/C] rs1890131 1 167597473 [T/C] rs3738226 1 167611826 [T/C] NR_136519,NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1,RCSD1 EXON Silent,Silent,Silent,Silent rs742471 1 167614752 [A/G] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 Silent,Silent,Silent rs761078 1 167615368 [T/C] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 Silent,Silent,Silent rs6659046 1 167621144 [T/C] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 Silent,Silent,Silent rs1229373 1 167632271 [A/G] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 Silent,Silent,Silent rs6695906 1 167638557 [A/G] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 Silent,Silent,Silent rs1229355 1 167641292 [A/G] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 Silent,Silent,Silent rs7511792 1 167652272 [A/C] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 Silent,Silent,Silent exm120545 1 167653143 [T/C] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 EXON Missense_P5S,Missense_P5S,Missense_P5S exm120555 1 167654670 [A/G] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 EXON Silent,Silent,Missense_K41E exm1732364 1 167654716 [A/C] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 EXON Silent,Silent,Missense_P56H exm120564 1 167659308 [T/A] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 EXON Silent,Missense_H44L,Missense_H74L variant.8190 1 167663335 [T/G] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 Silent,Silent,Silent exm120596 1 167666481 [T/G] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 EXON Missense_L153W,Missense_L177W,Missense_L207W exm120601 1 167666550 [A/C] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 EXON Missense_T176N,Missense_T200N,Missense_T230N exm120604 1 167666583 [A/G] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 EXON Missense_R187K,Missense_R211K,Missense_R241K exm120605 1 167666627 [A/G] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 EXON Missense_E202K,Missense_E226K,Missense_E256K exm120612 1 167666706 [T/C] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 EXON Missense_P228L,Missense_P252L,Missense_P282L exm120619 1 167666809 [C/G] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 EXON Missense_E262D,Missense_E286D,Missense_E316D exm120622 1 167666892 [T/C] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 EXON Missense_A290V,Missense_A314V,Missense_A344V exm120630 1 167666981 [C/G] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 EXON Missense_G320R,Missense_G344R,Missense_G374R exm120632 1 167667008 [T/C] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 EXON Missense_P329S,Missense_P353S,Missense_P383S exm120634 1 167667012 [A/G] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 EXON Missense_Q330R,Missense_Q354R,Missense_Q384R rs1890130 1 167672969 [A/G] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 Silent,Silent,Silent indel.8192 1 167673915 [D/I] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 EXON exm120638 1 167673917 [A/G] NM_001322924,NM_001322923,NM_052862 RCSD1,RCSD1,RCSD1 EXON Missense_Q358R,Missense_Q382R,Missense_Q412R rs1933075 1 167676364 [A/C] NM_001322924,NM_001322923 RCSD1,RCSD1 EXON Silent,Silent rs12079472 1 167695683 [T/C] NM_003953,NM_001146191,NM_024569 MPZL1,MPZL1,MPZL1 Silent,Silent,Silent rs12566176 1 167697059 [A/C] NM_003953,NM_001146191,NM_024569 MPZL1,MPZL1,MPZL1 Silent,Silent,Silent rs10918751 1 167702255 [A/C] NM_003953,NM_001146191,NM_024569 MPZL1,MPZL1,MPZL1 Silent,Silent,Silent rs16859520 1 167715940 [A/G] NM_003953,NM_001146191,NM_024569 MPZL1,MPZL1,MPZL1 Silent,Silent,Silent rs3753931 1 167722003 [T/C] NM_003953,NM_001146191,NM_024569 MPZL1,MPZL1,MPZL1 Silent,Silent,Silent rs12039424 1 167724850 [A/G] NM_003953,NM_001146191,NM_024569 MPZL1,MPZL1,MPZL1 Silent,Silent,Silent rs6671664 1 167749603 [A/G] NM_003953,NM_001146191,NM_024569 MPZL1,MPZL1,MPZL1 Silent,Silent,Silent rs929137 1 167751269 [A/G] NM_003953,NM_001146191,NM_024569 MPZL1,MPZL1,MPZL1 Silent,Silent,Silent rs3088322 1 167758901 [A/G] NM_003953,NM_001146191,NM_024569 MPZL1,MPZL1,MPZL1 EXON Silent,Silent,Silent rs7605 1 167759281 [T/C] NM_003953,NM_001146191,NM_024569 MPZL1,MPZL1,MPZL1 EXON Silent,Silent,Silent rs10753764 1 167760731 [T/C] NM_003953,NM_001146191,NM_024569 MPZL1,MPZL1,MPZL1 EXON Silent,Silent,Silent exm-rs10918767 1 167763804 [T/G] rs3213588 1 167778843 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Silent,Silent,Silent exm120664 1 167778926 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_N1516D,Missense_N1608D,Missense_N1455D exm120665 1 167778932 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_V1514M,Missense_V1606M,Missense_V1453M exm120667 1 167778979 [T/A] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_N1498I,Missense_N1590I,Missense_N1437I exm120669 1 167778994 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_V1493A,Missense_V1585A,Missense_V1432A exm120671 1 167779027 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_T1482M,Missense_T1574M,Missense_T1421M variant.8196 1 167779977 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Nonsense_W1460X,Nonsense_W1552X,Nonsense_W1399X exm120673 1 167779982 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_C1459R,Missense_C1551R,Missense_C1398R exm120676 1 167780071 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_C1429Y,Missense_C1521Y,Missense_C1368Y exm120677 1 167780075 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_V1428I,Missense_V1520I,Missense_V1367I exm120679 1 167780083 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_M1425T,Missense_M1517T,Missense_M1364T exm120680 1 167780086 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_L1424P,Missense_L1516P,Missense_L1363P exm120682 1 167780103 [G/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_C1418W,Missense_C1510W,Missense_C1357W indel.8197 1 167787315 [D/I] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON exm120694 1 167787475 [A/T] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_F1347L,Missense_F1439L,Missense_F1286L exm120695 1 167787479 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_N1346S,Missense_N1438S,Missense_N1285S exm120696 1 167791328 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_E1315G,Missense_E1407G,Missense_E1254G exm120700 1 167792333 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_R1269W,Missense_R1361W,Missense_R1208W exm120705 1 167792356 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_P1261L,Missense_P1353L,Missense_P1200L rs1476074 1 167793670 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent exm120709 1 167793766 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Nonsense_R1242X,Nonsense_R1334X,Nonsense_R1181X variant.8200 1 167793888 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent indel.8201 1 167793949 [D/I] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON rs1476075 1 167794406 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent exm120728 1 167798636 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_R1115W,Missense_R1207W,Missense_R1054W exm120730 1 167802226 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_G1106R,Missense_G1198R,Missense_G1045R exm120733 1 167802276 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_N1089S,Missense_N1181S,Missense_N1028S variant.8204 1 167803203 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent rs12409150 1 167804738 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent variant.8205 1 167805542 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent exm120744 1 167805621 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_G987R,Missense_G1079R,Missense_G926R exm120751 1 167805771 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_E937K,Missense_E1029K,Missense_E876K exm120752 1 167805777 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_P935S,Missense_P1027S,Missense_P874S indel.8207 1 167806500 [I/D] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON rs204267 1 167810373 [T/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent rs204264 1 167812359 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent exm1732534 1 167814812 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_H907R,Missense_H999R,Missense_H846R exm120756 1 167814913 [T/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_D873E,Missense_D965E,Missense_D812E variant.8209 1 167814933 [A/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Nonsense_E867X,Nonsense_E959X,Nonsense_E806X variant.8210 1 167814936 [A/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Nonsense_E866X,Nonsense_E958X,Nonsense_E805X exm120766 1 167815068 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_R822C,Missense_R914C,Missense_R761C indel.8211 1 167815274 [I/D] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON exm120772 1 167817632 [T/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_L710M,Missense_L802M,Missense_L649M rs3738235 1 167823505 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent exm120781 1 167823621 [T/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_K668Q,Missense_K760Q,Missense_K607Q exm120783 1 167823663 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_H654Y,Missense_H746Y,Missense_H593Y rs7512378 1 167825134 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent exm120788 1 167825449 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_I617V,Missense_I709V,Missense_I556V exm120792 1 167825485 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_I605V,Missense_I697V,Missense_I544V exm120795 1 167825532 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_A589V,Missense_A681V,Missense_A528V variant.8213 1 167830109 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Synonymous_Q511Q,Synonymous_Q603Q,Synonymous_Q450Q variant.8214 1 167830192 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Nonsense_R484X,Nonsense_R576X,Nonsense_R423X exm120815 1 167830227 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_V472A,Missense_V564A,Missense_V411A rs203812 1 167837285 [A/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent rs203817 1 167837791 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent newrs139591383 1 167839494 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent var_1_167839538 1 167839539 [D/I] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON exm120825 1 167844413 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_M381T,Missense_M473T,Missense_M320T rs6427113 1 167845787 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent rs203838 1 167847584 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent exm120828 1 167847696 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_R373H,Missense_R465H,Missense_R312H exm120836 1 167847808 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_D336N,Missense_D428N,Missense_D275N exm2264915 1 167849414 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Synonymous_G293G,Synonymous_G385G,Synonymous_G232G exm120843 1 167849416 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_G293S,Missense_G385S,Missense_G232S indel.8217 1 167852742 [I/D] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON rs1829684 1 167858881 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent exm120866 1 167863161 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_C161Y,Missense_C253Y,Missense_C100Y rs437846 1 167863706 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent exm120869 1 167865871 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_T142M,Missense_T234M,Missense_T81M exm2273715 1 167865921 [T/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Missense_F125L,Missense_F217L,Missense_F64L newrs141422393 1 167868722 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Nonsense_W102X,Nonsense_W194X,Nonsense_W41X variant.8220 1 167873124 [A/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent newrs142062218 1 167873231 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent exm120891 1 167874240 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Silent,Missense_D47N,Silent variant.8222 1 167874354 [A/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Silent,Nonsense_Q9X,Silent exm120897 1 167874359 [T/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 EXON Silent,Missense_E7A,Silent rs203777 1 167876616 [T/C] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent rs11578481 1 167879655 [T/G] NM_001297772,NM_018417,NM_001167749 ADCY10,ADCY10,ADCY10 Silent,Silent,Silent rs10489202 1 167903079 [T/G] NM_001143674,NM_015415,NR_026550 MPC2,MPC2,MPC2 Silent,Silent,Silent exm120911 1 167905012 [A/G] NM_001143674,NM_015415,NR_026550 MPC2,MPC2,MPC2 EXON Missense_M23T,Missense_M23T,Silent exm120912 1 167905024 [T/C] NM_001143674,NM_015415,NR_026550 MPC2,MPC2,MPC2 EXON Missense_K19R,Missense_K19R,Silent exm120913 1 167905028 [T/C] NM_001143674,NM_015415,NR_026550 MPC2,MPC2,MPC2 EXON Missense_D18N,Missense_D18N,Silent rs11578006 1 167929037 [T/C] NM_001349778,NM_001349774,NR_146230,NM_001349773,NM_001349775,NM_001349776,NR_146229,NM_001349777,NM_001198957,NM_001349779,NR_146228,NM_001349780,NM_018442,NM_001198956,NM_001017977 DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm120920 1 167935880 [A/G] NM_001349778,NM_001349774,NR_146230,NM_001349773,NM_001349775,NM_001349776,NR_146229,NM_001349777,NM_001198957,NM_001349779,NR_146228,NM_001349780,NM_018442,NM_001198956,NM_001017977 DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6 EXON Silent,Silent,Silent,Missense_C58Y,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_C58Y,Missense_C58Y,Missense_C58Y rs202248 1 167972023 [A/G] NM_001349778,NM_001349774,NR_146230,NM_001349773,NM_001349775,NM_001349776,NR_146229,NM_001349777,NM_001198957,NM_001349779,NR_146228,NM_001349780,NM_018442,NM_001198956,NM_001017977 DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm120950 1 167973797 [A/G] NM_001349778,NM_001349774,NR_146230,NM_001349773,NM_001349775,NM_001349776,NR_146229,NM_001349777,NM_001198957,NM_001349779,NR_146228,NM_001349780,NM_018442,NM_001198956,NM_001017977 DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_T235A,Missense_T235A,Silent,Missense_T382A,Missense_T235A,Missense_T235A,Silent,Missense_T235A,Missense_T351A,Missense_T235A,Silent,Missense_T235A,Missense_T382A,Missense_T382A,Missense_T382A exm120956 1 167992234 [T/C] NM_001349778,NM_001349774,NR_146230,NM_001349773,NM_001349775,NM_001349776,NR_146229,NM_001349777,NM_001198957,NM_001349779,NR_146228,NM_001349780,NM_018442,NM_001198956,NM_001017977 DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6 EXON Silent,Missense_S316P,Silent,Missense_S520P,Missense_S316P,Missense_S316P,Silent,Missense_S316P,Missense_S489P,Silent,Silent,Silent,Missense_S463P,Missense_S520P,Silent exm120957 1 167992265 [T/C] NM_001349778,NM_001349774,NR_146230,NM_001349773,NM_001349775,NM_001349776,NR_146229,NM_001349777,NM_001198957,NM_001349779,NR_146228,NM_001349780,NM_018442,NM_001198956,NM_001017977 DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6 EXON Silent,Missense_M326T,Silent,Missense_M530T,Missense_M326T,Missense_M326T,Silent,Missense_M326T,Missense_M499T,Silent,Silent,Silent,Missense_M473T,Missense_M530T,Silent exm120963 1 168012292 [T/C] NM_001349778,NM_001349774,NR_146230,NM_001349773,NM_001349775,NM_001349776,NR_146229,NM_001349777,NM_001198957,NM_001349779,NR_146228,NM_001349780,NM_018442,NM_001198956,NM_001017977 DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_I362T,Missense_I382T,Silent,Missense_I586T,Missense_I382T,Missense_I382T,Silent,Missense_I382T,Missense_I555T,Missense_I362T,Silent,Missense_I362T,Missense_I529T,Missense_I586T,Missense_I509T exm120970 1 168013847 [A/G] NM_001349778,NM_001349774,NR_146230,NM_001349773,NM_001349775,NM_001349776,NR_146229,NM_001349777,NM_001198957,NM_001349779,NR_146228,NM_001349780,NM_018442,NM_001198956,NM_001017977 DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_D399G,Missense_D419G,Silent,Missense_D623G,Missense_D419G,Missense_D419G,Silent,Missense_D419G,Missense_D592G,Missense_D399G,Silent,Missense_D399G,Missense_D566G,Missense_D623G,Missense_D546G exm120972 1 168013850 [T/C] NM_001349778,NM_001349774,NR_146230,NM_001349773,NM_001349775,NM_001349776,NR_146229,NM_001349777,NM_001198957,NM_001349779,NR_146228,NM_001349780,NM_018442,NM_001198956,NM_001017977 DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_V400A,Missense_V420A,Silent,Missense_V624A,Missense_V420A,Missense_V420A,Silent,Missense_V420A,Missense_V593A,Missense_V400A,Silent,Missense_V400A,Missense_V567A,Missense_V624A,Missense_V547A exm120973 1 168013865 [A/G] NM_001349778,NM_001349774,NR_146230,NM_001349773,NM_001349775,NM_001349776,NR_146229,NM_001349777,NM_001198957,NM_001349779,NR_146228,NM_001349780,NM_018442,NM_001198956,NM_001017977 DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_E405G,Missense_E425G,Silent,Missense_E629G,Missense_E425G,Missense_E425G,Silent,Missense_E425G,Missense_E598G,Missense_E405G,Silent,Missense_E405G,Missense_E572G,Missense_E629G,Missense_E552G exm120974 1 168013876 [A/G] NM_001349778,NM_001349774,NR_146230,NM_001349773,NM_001349775,NM_001349776,NR_146229,NM_001349777,NM_001198957,NM_001349779,NR_146228,NM_001349780,NM_018442,NM_001198956,NM_001017977 DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_A409T,Missense_A429T,Silent,Missense_A633T,Missense_A429T,Missense_A429T,Silent,Missense_A429T,Missense_A602T,Missense_A409T,Silent,Missense_A409T,Missense_A576T,Missense_A633T,Missense_A556T exm120978 1 168014138 [T/C] NM_001349778,NM_001349774,NR_146230,NM_001349773,NM_001349775,NM_001349776,NR_146229,NM_001349777,NM_001198957,NM_001349779,NR_146228,NM_001349780,NM_018442,NM_001198956,NM_001017977 DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_T420I,Missense_T440I,Silent,Missense_T644I,Missense_T440I,Missense_T440I,Silent,Missense_T440I,Missense_T613I,Missense_T420I,Silent,Missense_T420I,Missense_T587I,Missense_T644I,Missense_T567I exm120979 1 168014177 [A/G] NM_001349778,NM_001349774,NR_146230,NM_001349773,NM_001349775,NM_001349776,NR_146229,NM_001349777,NM_001198957,NM_001349779,NR_146228,NM_001349780,NM_018442,NM_001198956,NM_001017977 DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_N433S,Missense_N453S,Silent,Missense_N657S,Missense_N453S,Missense_N453S,Silent,Missense_N453S,Missense_N626S,Missense_N433S,Silent,Missense_N433S,Missense_N600S,Missense_N657S,Missense_N580S exm120987 1 168014344 [A/C] NM_001349778,NM_001349774,NR_146230,NM_001349773,NM_001349775,NM_001349776,NR_146229,NM_001349777,NM_001198957,NM_001349779,NR_146228,NM_001349780,NM_018442,NM_001198956,NM_001017977 DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_T489P,Missense_T509P,Silent,Missense_T713P,Missense_T509P,Missense_T509P,Silent,Missense_T509P,Missense_T682P,Missense_T489P,Silent,Missense_T489P,Missense_T656P,Missense_T713P,Missense_T636P exm120991 1 168014447 [A/G] NM_001349778,NM_001349774,NR_146230,NM_001349773,NM_001349775,NM_001349776,NR_146229,NM_001349777,NM_001198957,NM_001349779,NR_146228,NM_001349780,NM_018442,NM_001198956,NM_001017977 DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_R523Q,Missense_R543Q,Silent,Missense_R747Q,Missense_R543Q,Missense_R543Q,Silent,Missense_R543Q,Missense_R716Q,Missense_R523Q,Silent,Missense_R523Q,Missense_R690Q,Missense_R747Q,Missense_R670Q rs17485889 1 168018840 [T/G] NM_001349778,NM_001349774,NR_146230,NM_001349773,NM_001349775,NM_001349776,NR_146229,NM_001349777,NM_001198957,NM_001349779,NR_146228,NM_001349780,NM_018442,NM_001198956,NM_001017977 DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12069228 1 168026965 [A/G] NM_001349778,NM_001349774,NR_146230,NM_001349773,NM_001349775,NM_001349776,NR_146229,NM_001349777,NM_001198957,NM_001349779,NR_146228,NM_001349780,NM_018442,NM_001198956,NM_001017977 DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.8225 1 168037706 [T/G] NM_001349778,NM_001349774,NR_146230,NM_001349773,NM_001349775,NM_001349776,NR_146229,NM_001349777,NM_001198957,NM_001349779,NR_146228,NM_001349780,NM_018442,NM_001198956,NM_001017977 DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6,DCAF6 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs275149 1 168059866 [A/G] NM_001267609,NM_153832,NM_001349634,NM_001349633,NM_001267612,NM_001267610,NM_001267611,NM_001349632,NM_001267614,NM_001267613,NM_001349635 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Synonymous_G400G,Synonymous_G380G,Synonymous_G380G,Synonymous_G380G,Synonymous_G248G,Synonymous_G380G,Synonymous_G397G,Synonymous_G380G,Synonymous_G266G,Synonymous_G302G,Synonymous_G248G exm121064 1 168066072 [T/C] NM_001267609,NM_153832,NM_001349634,NM_001349633,NM_001267612,NM_001267610,NM_001267611,NM_001349632,NM_001267614,NM_001267613,NM_001349635 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_G278D,Missense_G258D,Missense_G258D,Missense_G258D,Missense_G126D,Missense_G258D,Missense_G275D,Missense_G258D,Missense_G144D,Missense_G180D,Missense_G126D exm121067 1 168066133 [T/C] NM_001267609,NM_153832,NM_001349634,NM_001349633,NM_001267612,NM_001267610,NM_001267611,NM_001349632,NM_001267614,NM_001267613,NM_001349635 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_G258R,Missense_G238R,Missense_G238R,Missense_G238R,Missense_G106R,Missense_G238R,Missense_G255R,Missense_G238R,Missense_G124R,Missense_G160R,Missense_G106R exm121069 1 168066163 [T/C] NM_001267609,NM_153832,NM_001349634,NM_001349633,NM_001267612,NM_001267610,NM_001267611,NM_001349632,NM_001267614,NM_001267613,NM_001349635 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_V248I,Missense_V228I,Missense_V228I,Missense_V228I,Missense_V96I,Missense_V228I,Missense_V245I,Missense_V228I,Missense_V114I,Missense_V150I,Missense_V96I exm121072 1 168066183 [T/C] NM_001267609,NM_153832,NM_001349634,NM_001349633,NM_001267612,NM_001267610,NM_001267611,NM_001349632,NM_001267614,NM_001267613,NM_001349635 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_K241R,Missense_K221R,Missense_K221R,Missense_K221R,Missense_K89R,Missense_K221R,Missense_K238R,Missense_K221R,Missense_K107R,Missense_K143R,Missense_K89R exm121073 1 168066205 [T/C] NM_001267609,NM_153832,NM_001349634,NM_001349633,NM_001267612,NM_001267610,NM_001267611,NM_001349632,NM_001267614,NM_001267613,NM_001349635 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_V234M,Missense_V214M,Missense_V214M,Missense_V214M,Missense_V82M,Missense_V214M,Missense_V231M,Missense_V214M,Missense_V100M,Missense_V136M,Missense_V82M exm121083 1 168066340 [T/C] NM_001267609,NM_153832,NM_001349634,NM_001349633,NM_001267612,NM_001267610,NM_001267611,NM_001349632,NM_001267614,NM_001267613,NM_001349635 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_V189M,Missense_V169M,Missense_V169M,Missense_V169M,Missense_V37M,Missense_V169M,Missense_V186M,Missense_V169M,Missense_V55M,Missense_V91M,Missense_V37M exm121085 1 168066400 [T/C] NM_001267609,NM_153832,NM_001349634,NM_001349633,NM_001267612,NM_001267610,NM_001267611,NM_001349632,NM_001267614,NM_001267613,NM_001349635 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_V169I,Missense_V149I,Missense_V149I,Missense_V149I,Missense_V17I,Missense_V149I,Missense_V166I,Missense_V149I,Missense_V35I,Missense_V71I,Missense_V17I variant.8228 1 168073715 [T/C] NM_001267609,NM_153832,NM_001349634,NM_001349633,NM_001267612,NM_001267610,NM_001267611,NM_001349632,NM_001267614,NM_001267613,NM_001349635 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_R145H,Missense_R125H,Missense_R125H,Missense_R125H,Silent,Missense_R125H,Missense_R142H,Missense_R125H,Silent,Silent,Silent rs11582396 1 168077636 [T/C] NM_001267609,NM_153832,NM_001349634,NM_001349633,NM_001267612,NM_001267610,NM_001267611,NM_001349632,NM_001267614,NM_001267613,NM_001349635 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16828104 1 168090899 [T/C] NM_001267609,NM_153832,NM_001349634,NM_001349633,NM_001267612,NM_001267610,NM_001267611,NM_001349632,NM_001267614,NM_001267613,NM_001349635 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11805261 1 168095261 [A/C] NM_001267609,NM_153832,NM_001349634,NM_001349633,NM_001267612,NM_001267610,NM_001267611,NM_001349632,NM_001267614,NM_001267613,NM_001349635 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2902570 1 168118292 [A/G] rs4657741 1 168149142 [A/G] NM_152902,NM_001031800 TIPRL,TIPRL Silent,Silent exm121112 1 168154019 [T/C] NM_152902,NM_001031800 TIPRL,TIPRL EXON Missense_T96M,Missense_T96M 1KG_1_168154033 1 168154033 [D/I] NM_152902,NM_001031800 TIPRL,TIPRL EXON rs2235207 1 168159262 [T/C] NM_152902,NM_001031800 TIPRL,TIPRL Silent,Silent rs4534357 1 168167139 [A/G] NM_152902 TIPRL Silent rs9659234 1 168182443 [T/C] rs12049577 1 168186174 [T/C] exm121135 1 168195335 [C/G] NM_199344 SFT2D2 EXON Missense_K6N exm121138 1 168195363 [T/C] NM_199344 SFT2D2 EXON Missense_R16W exm121154 1 168204394 [T/C] NM_199344 SFT2D2 EXON Missense_R98C exm121158 1 168205991 [T/G] NM_199344 SFT2D2 EXON Missense_Q132H rs2280991 1 168211256 [T/C] NM_199344 SFT2D2 Silent rs2280990 1 168211282 [T/C] NM_199344 SFT2D2 Silent rs10489209 1 168230181 [T/C] exm121172 1 168250410 [T/C] NM_005149 TBX19 EXON Nonsense_Q28X rs1003502 1 168255020 [A/G] NM_005149 TBX19 Silent rs3819818 1 168257331 [A/G] NM_005149 TBX19 Silent exm121181 1 168260481 [T/C] NM_005149 TBX19 EXON Missense_T96M exm121197 1 168262448 [T/C] NM_005149 TBX19 EXON Nonsense_R179X indel.8232 1 168266927 [D/I] NM_005149 TBX19 variant.8233 1 168267028 [A/G] NM_005149 TBX19 Silent exm121209 1 168269704 [A/G] NM_005149 TBX19 EXON Missense_H237R exm121210 1 168269718 [T/C] NM_005149 TBX19 EXON Missense_H242Y exm121216 1 168274279 [T/C] NM_005149 TBX19 EXON Missense_V254A variant.8234 1 168274305 [T/C] NM_005149 TBX19 EXON Nonsense_Q263X exm121222 1 168274374 [T/C] NM_005149 TBX19 EXON Nonsense_R286X exm2250205 1 168274385 [A/G] NM_005149 TBX19 EXON Synonymous_R289R rs6427122 1 168274691 [T/C] NM_005149 TBX19 Silent rs2284766 1 168275262 [T/C] NM_005149 TBX19 Silent rs1883148 1 168278264 [A/G] NM_005149 TBX19 Silent exm121239 1 168282040 [T/C] NM_005149 TBX19 EXON Missense_L383F rs1008680 1 168285045 [A/G] rs2300575 1 168288835 [A/G] rs2179184 1 168300075 [A/G] rs7512951 1 168309388 [T/C] rs10800356 1 168327555 [T/G] rs2268558 1 168336623 [A/C] rs2268547 1 168353246 [T/C] rs16860487 1 168359043 [A/G] rs2300568 1 168375973 [T/C] NR_037851 LOC100505918 Silent rs12406610 1 168378160 [T/C] NR_037851 LOC100505918 Silent rs4656587 1 168382000 [A/G] NR_037851 LOC100505918 Silent rs2268541 1 168397414 [A/G] rs1810467 1 168413221 [A/G] rs7535780 1 168418373 [T/C] rs12563551 1 168423843 [T/C] rs858099 1 168426153 [A/C] rs1737168 1 168443178 [A/G] NR_125956 LOC101928565 Silent rs10918901 1 168450775 [T/G] NR_125956 LOC101928565 Silent rs10918911 1 168460487 [T/C] NR_125956 LOC101928565 Silent rs12094807 1 168461703 [T/G] NR_125956 LOC101928565 Silent rs6667542 1 168487659 [A/G] rs10918914 1 168489176 [A/G] rs1323530 1 168489847 [T/C] rs7529824 1 168500458 [A/G] rs1933112 1 168521417 [A/G] rs12049040 1 168521615 [A/G] rs1933111 1 168521747 [T/C] rs1933107 1 168524895 [A/G] rs16860907 1 168535352 [A/C] rs2419114 1 168537645 [T/C] rs16860928 1 168542041 [A/G] exm121309 1 168549415 [T/C] NM_002995 XCL1 EXON Missense_I59T rs6687507 1 168549720 [T/C] NM_002995 XCL1 Silent rs982143 1 168551236 [T/C] NM_002995 XCL1 EXON Silent rs6662401 1 168553057 [T/C] rs1933095 1 168556945 [T/C] rs2419115 1 168557141 [A/G] rs6693141 1 168563895 [A/G] rs1933090 1 168568911 [A/G] rs988724 1 168573041 [T/C] exm2250208 1 168575163 [T/C] rs10800363 1 168575163 [T/C] rs11589732 1 168585289 [A/G] rs10918942 1 168589515 [T/C] rs7355223 1 168589988 [A/G] rs728354 1 168601255 [T/C] rs10800374 1 168606715 [A/G] rs742479 1 168607373 [A/G] rs16861196 1 168611846 [T/C] rs6427139 1 168612925 [A/G] exm-rs1412337 1 168618641 [A/G] rs2064300 1 168625843 [A/G] rs1015001 1 168626707 [A/G] rs1933115 1 168633890 [T/C] rs7416358 1 168653857 [T/C] rs17502304 1 168655627 [A/G] exm121327 1 168665792 [T/C] NM_001937 DPT EXON Missense_V201I exm1733231 1 168665811 [A/G] NM_001937 DPT EXON Synonymous_Y194Y rs524705 1 168665974 [T/C] NM_001937 DPT Silent rs10489360 1 168667989 [A/G] NM_001937 DPT Silent variant.8240 1 168670363 [T/C] NM_001937 DPT Silent rs12122756 1 168671797 [T/C] NM_001937 DPT Silent rs530022 1 168675971 [A/G] NM_001937 DPT Silent rs581753 1 168679692 [A/G] NM_001937 DPT Silent exm121341 1 168683471 [A/G] NM_001937 DPT EXON Missense_P140L exm121343 1 168683477 [T/C] NM_001937 DPT EXON Missense_R138K exm121349 1 168683529 [T/C] NM_001937 DPT EXON Missense_E121K rs545833 1 168689940 [T/C] NM_001937 DPT Silent rs11590043 1 168692615 [A/C] NM_001937 DPT Silent rs2207216 1 168694212 [A/C] NM_001937 DPT Silent exm121356 1 168698165 [A/C] NM_001937 DPT EXON Missense_S83I rs1052591 1 168698173 [T/C] NM_001937 DPT EXON Synonymous_T80T exm2273717 1 168698208 [A/G] NM_001937 DPT EXON Missense_S69P exm121361 1 168698238 [T/C] NM_001937 DPT EXON Missense_V59M exm121363 1 168698286 [A/G] NM_001937 DPT EXON Missense_R43W exm121365 1 168698298 [T/C] NM_001937 DPT EXON Missense_V39M exm121372 1 168698405 [A/G] NM_001937 DPT EXON Missense_L3P rs610403 1 168707974 [A/G] rs655128 1 168711459 [T/C] rs6427150 1 168725876 [A/G] rs12065661 1 168734457 [A/G] rs2744666 1 168737147 [A/G] rs2786765 1 168741270 [T/C] rs10800380 1 168741818 [T/C] rs2206300 1 168745136 [T/C] rs17570453 1 168748586 [A/G] rs3738241 1 168758306 [T/C] NR_024160 LINC00626 Silent rs10800383 1 168764740 [T/G] rs6695006 1 168813241 [A/C] rs2143091 1 168816245 [A/G] rs169266 1 168824111 [T/C] rs1322494 1 168837734 [T/C] rs1885555 1 168851940 [A/G] rs10919006 1 168856283 [A/G] rs10800393 1 168862571 [T/C] rs1407477 1 168863309 [T/C] exm2250211 1 168863309 [T/C] rs7551577 1 168866494 [T/G] rs4142003 1 168871028 [A/G] rs10919013 1 168882428 [T/C] NR_104091 LINC00970 Silent rs911892 1 168891624 [A/C] NR_104091 LINC00970 Silent rs10737544 1 168891735 [A/G] NR_104091 LINC00970 Silent rs6427160 1 168892181 [T/C] NR_104091 LINC00970 Silent rs882126 1 168907072 [T/C] NR_104091 LINC00970 Silent rs1575330 1 168913482 [A/G] NR_104091 LINC00970 Silent rs12048750 1 168922582 [A/G] NR_104091 LINC00970 Silent rs2984610 1 168929116 [A/G] NR_104091 LINC00970 Silent rs10489371 1 168932500 [A/G] NR_104091 LINC00970 Silent rs3007381 1 168950508 [T/G] NR_104091 LINC00970 Silent rs10800399 1 168956784 [A/C] NR_104091 LINC00970 Silent rs992325 1 168957076 [A/G] NR_104091 LINC00970 Silent rs1322487 1 168960286 [A/G] NR_104091 LINC00970 Silent rs2984600 1 168976442 [T/C] NR_104091 LINC00970 Silent rs7544086 1 168994513 [T/C] NR_104091 LINC00970 Silent rs4656640 1 168996958 [T/G] NR_104091 LINC00970 Silent rs10494476 1 169000494 [A/G] NR_104091 LINC00970 Silent rs10919037 1 169002599 [T/C] NR_104091 LINC00970 Silent rs11580269 1 169005304 [A/C] NR_104091 LINC00970 Silent rs12069869 1 169026930 [A/G] NR_104091 LINC00970 Silent rs1358713 1 169030878 [A/G] NR_104091 LINC00970 Silent rs10919051 1 169041144 [T/C] NR_104091 LINC00970 Silent rs2051145 1 169070332 [T/C] rs926516 1 169073050 [A/C] rs3766031 1 169085119 [T/C] NM_001677 ATP1B1 Silent rs3766034 1 169087665 [T/C] NM_001677 ATP1B1 Silent rs1040502 1 169088132 [T/C] NM_001677 ATP1B1 Silent rs12731646 1 169090660 [T/C] NM_001677 ATP1B1 Silent rs3753292 1 169091466 [T/C] NM_001677 ATP1B1 Silent exm121393 1 169094276 [T/C] NM_001677 ATP1B1 EXON Synonymous_G127G exm121394 1 169096477 [T/C] NM_001677 ATP1B1 EXON Missense_P133L exm-rs10919071 1 169099483 [A/G] NM_001677 ATP1B1 Silent exm121409 1 169100680 [A/T] NM_001677 ATP1B1 EXON Missense_T267S rs12724494 1 169112504 [T/C] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 Silent,Silent,Silent rs10919075 1 169115833 [A/G] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 Silent,Silent,Silent rs1320967 1 169121811 [T/C] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 Silent,Silent,Silent rs12023291 1 169134027 [T/C] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 Silent,Silent,Silent exm-rs16861990 1 169135127 [A/C] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 Silent,Silent,Silent rs4656656 1 169138307 [A/C] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 Silent,Silent,Silent exm121428 1 169138708 [T/G] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 EXON Silent,Missense_L359M,Missense_L323M exm121429 1 169138782 [T/C] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 EXON Silent,Missense_R334Q,Missense_R298Q rs1080266 1 169176590 [T/C] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 Silent,Silent,Silent rs3766077 1 169180302 [A/G] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 Silent,Silent,Silent variant.8244 1 169204377 [A/C] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 EXON Silent,Nonsense_E294X,Nonsense_E258X rs12741540 1 169204640 [A/G] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 Silent,Silent,Silent rs12733626 1 169255020 [T/G] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 Silent,Silent,Silent newrs146620013 1 169256540 [T/C] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 Silent,Silent,Silent rs1591733 1 169265836 [T/C] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 Silent,Silent,Silent exm121453 1 169267828 [A/G] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 EXON Silent,Missense_A205V,Missense_A169V variant.8246 1 169272382 [T/C] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 Silent,Silent,Silent exm121464 1 169272413 [T/C] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 EXON Silent,Missense_H137R,Missense_H101R exm121468 1 169279239 [T/C] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 EXON Silent,Missense_I120V,Missense_I84V indel.8247 1 169279267 [I/D] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 EXON rs10919132 1 169280253 [A/G] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 Silent,Silent,Silent rs10800431 1 169291205 [A/G] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 Silent,Silent,Silent exm121471 1 169292355 [T/A] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 EXON Silent,Missense_K93I,Missense_K57I variant.8249 1 169293703 [T/C] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 EXON Silent,Nonsense_W13X,Silent rs7538259 1 169293721 [A/G] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 EXON Silent,Synonymous_F7F,Silent kgp7941643 1 169294778 [A/G] NR_104229,NM_013330,NM_197972 NME7,NME7,NME7 Silent,Silent,Silent exm121496 1 169345868 [A/G] NM_001320973,NM_003666,NM_001320972 BLZF1,BLZF1,BLZF1 EXON Missense_Q40R,Missense_Q40R,Missense_Q40R exm121497 1 169345883 [A/G] NM_001320973,NM_003666,NM_001320972 BLZF1,BLZF1,BLZF1 EXON Missense_H45R,Missense_H45R,Missense_H45R exm121498 1 169345894 [A/C] NM_001320973,NM_003666,NM_001320972 BLZF1,BLZF1,BLZF1 EXON Missense_S49R,Missense_S49R,Missense_S49R exm1733616 1 169346051 [A/C] NM_001320973,NM_003666,NM_001320972 BLZF1,BLZF1,BLZF1 EXON Missense_S101Y,Missense_S101Y,Missense_S101Y exm121505 1 169346081 [G/C] NM_001320973,NM_003666,NM_001320972 BLZF1,BLZF1,BLZF1 EXON Missense_G111A,Missense_G111A,Missense_G111A variant.8251 1 169346173 [T/C] NM_001320973,NM_003666,NM_001320972 BLZF1,BLZF1,BLZF1 EXON Nonsense_Q142X,Nonsense_Q142X,Nonsense_Q142X indel.8253 1 169347588 [D/I] NM_001320973,NM_003666 BLZF1,BLZF1 EXON exm121512 1 169347635 [A/G] NM_001320973,NM_003666 BLZF1,BLZF1 EXON Missense_R179H,Missense_R179H exm2231773 1 169347680 [T/A] NM_001320973,NM_003666 BLZF1,BLZF1 EXON Missense_L194Q,Missense_L194Q exm121517 1 169347686 [A/G] NM_001320973,NM_003666 BLZF1,BLZF1 EXON Missense_R196Q,Missense_R196Q variant.8254 1 169347744 [A/G] NM_001320973,NM_003666 BLZF1,BLZF1 EXON Nonsense_W215X,Nonsense_W215X variant.8255 1 169347745 [T/C] NM_001320973,NM_003666 BLZF1,BLZF1 EXON Nonsense_R216X,Nonsense_R216X newrs138335460 1 169349759 [T/C] NM_001320973,NM_003666 BLZF1,BLZF1 EXON Nonsense_Q237X,Nonsense_Q237X exm121528 1 169349811 [A/G] NM_001320973,NM_003666 BLZF1,BLZF1 EXON Missense_R254Q,Missense_R254Q exm121541 1 169356298 [T/A] NM_001320973,NM_003666 BLZF1,BLZF1 EXON Missense_S361T,Missense_S361T exm121544 1 169356327 [G/C] NM_001320973,NM_003666 BLZF1,BLZF1 EXON Missense_K370N,Missense_K370N variant.8258 1 169356396 [A/C] NM_001320973,NM_003666 BLZF1,BLZF1 EXON Nonsense_C393X,Nonsense_C393X exm121560 1 169366494 [A/G] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Missense_R450W,Missense_R450W,Missense_R451W exm121563 1 169366558 [T/G] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Missense_E428D,Missense_E428D,Missense_E429D rs9783117 1 169368301 [T/C] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 Silent,Silent,Silent rs10919164 1 169384437 [T/C] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 Silent,Silent,Silent indel.8260 1 169388258 [I/D] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON exm121572 1 169388390 [T/C] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Missense_R359Q,Missense_R359Q,Missense_R359Q exm121573 1 169390656 [T/C] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Missense_R338Q,Missense_R338Q,Missense_R338Q exm121574 1 169390675 [T/C] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Missense_T332A,Missense_T332A,Missense_T332A variant.8264 1 169390741 [A/G] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Nonsense_R310X,Nonsense_R310X,Nonsense_R310X exm121579 1 169390761 [T/C] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Missense_S303N,Missense_S303N,Missense_S303N exm1733641 1 169390764 [A/G] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Missense_P302L,Missense_P302L,Missense_P302L exm121581 1 169390777 [A/G] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Missense_R298C,Missense_R298C,Missense_R298C exm121582 1 169390786 [A/G] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Missense_P295S,Missense_P295S,Missense_P295S exm121588 1 169390851 [A/G] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Missense_T273I,Missense_T273I,Missense_T273I indel.8266 1 169391059 [D/I] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON newrs182655659 1 169391103 [A/C] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Nonsense_L189X,Nonsense_L189X,Nonsense_L189X exm121599 1 169391103 [A/C] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Nonsense_L189X,Nonsense_L189X,Nonsense_L189X exm2273718 1 169391135 [A/G] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Synonymous_N178N,Synonymous_N178N,Synonymous_N178N exm121603 1 169391154 [A/G] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Missense_F172S,Missense_F172S,Missense_F172S rs3820059 1 169391154 [A/G] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Missense_F172S,Missense_F172S,Missense_F172S exm121604 1 169391169 [T/C] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Missense_E167G,Missense_E167G,Missense_E167G exm121615 1 169394057 [T/C] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Missense_I37V,Missense_I37V,Missense_I37V exm1733647 1 169394083 [T/G] NM_001300968,NM_021179,NM_001300969 CCDC181,CCDC181,CCDC181 EXON Missense_N28T,Missense_N28T,Missense_N28T rs10800447 1 169431363 [T/C] exm121620 1 169435182 [T/C] NM_006996,NM_001319667 SLC19A2,SLC19A2 EXON Missense_A467T,Missense_A266T exm121623 1 169435214 [A/T] NM_006996,NM_001319667 SLC19A2,SLC19A2 EXON Missense_F456Y,Missense_F255Y exm121625 1 169437392 [A/G] NM_006996,NM_001319667 SLC19A2,SLC19A2 EXON Missense_I441T,Missense_I240T exm121638 1 169438012 [A/T] NM_006996,NM_001319667 SLC19A2,SLC19A2 EXON Missense_T365S,Missense_T164S exm121640 1 169438042 [T/G] NM_006996,NM_001319667 SLC19A2,SLC19A2 EXON Missense_K355Q,Missense_K154Q variant.8271 1 169439202 [T/C] NM_006996,NM_001319667 SLC19A2,SLC19A2 EXON Missense_G344S,Missense_G143S exm121648 1 169439408 [A/C] NM_006996,NM_001319667 SLC19A2,SLC19A2 EXON Missense_R275L,Missense_R74L exm121652 1 169446404 [T/C] NM_006996,NM_001319667 SLC19A2,SLC19A2 EXON Missense_V266M,Silent exm121666 1 169446881 [T/C] NM_006996,NM_001319667 SLC19A2,SLC19A2 EXON Missense_S107G,Silent rs6427193 1 169448377 [T/C] NM_006996,NM_001319667 SLC19A2,SLC19A2 Silent,Silent rs2187952 1 169481950 [A/G] NM_000130 F5 EXON Silent rs9332678 1 169482115 [T/A] NM_000130 F5 EXON Silent rs2040444 1 169482436 [A/G] NM_000130 F5 EXON Silent exm121681 1 169483561 [T/C] NM_000130 F5 EXON Missense_D2222G variant.8275 1 169483573 [A/G] NM_000130 F5 EXON Missense_L2218P variant.8276 1 169483622 [A/G] NM_000130 F5 EXON Missense_R2202C exm121684 1 169483672 [T/C] NM_000130 F5 EXON Missense_K2185R exm121688 1 169484750 [T/G] NM_000130 F5 EXON Missense_T2154P exm121699 1 169487673 [A/G] NM_000130 F5 EXON Missense_R2108C exm121715 1 169494140 [T/C] NM_000130 F5 EXON Missense_R1908K variant.8279 1 169495162 [A/G] NM_000130 F5 EXON Missense_T1898M exm1733727 1 169497194 [A/C] NM_000130 F5 EXON Missense_G1853V newrs141977229 1 169497306 [A/G] NM_000130 F5 EXON Missense_P1816S exm121732 1 169497306 [A/G] NM_000130 F5 EXON Missense_P1816S exm121733 1 169497321 [A/T] NM_000130 F5 EXON Missense_M1811L variant.8282 1 169498919 [T/C] NM_000130 F5 EXON Nonsense_W1782X rs6030 1 169498975 [T/C] NM_000130 F5 EXON Missense_M1764V exm121743 1 169498975 [T/C] NM_000130 F5 EXON Missense_M1764V exm121745 1 169499000 [T/C] NM_000130 F5 EXON Missense_I1755M exm121746 1 169499020 [C/G] NM_000130 F5 EXON Missense_L1749V exm121750 1 169500056 [A/G] NM_000130 F5 EXON Missense_R1726W indel.8285 1 169500111 [D/I] NM_000130 F5 EXON exm121765 1 169505880 [A/T] NM_000130 F5 EXON Missense_D1612V exm121773 1 169509698 [A/C] NM_000130 F5 EXON Missense_V1544L exm121775 1 169509739 [T/G] NM_000130 F5 EXON Missense_E1530A exm121781 1 169509923 [A/G] NM_000130 F5 EXON Missense_S1469P exm121797 1 169510118 [A/G] NM_000130 F5 EXON Missense_P1404S exm121798 1 169510139 [A/G] NM_000130 F5 EXON Missense_L1397F exm121818 1 169510475 [T/G] NM_000130 F5 EXON Missense_L1285I newrs143333036 1 169510483 [T/C] NM_000130 F5 EXON Missense_H1282R exm121833 1 169510697 [T/C] NM_000130 F5 EXON Missense_T1211A exm121844 1 169510890 [C/G] NM_000130 F5 EXON Missense_H1146Q exm2231785 1 169510926 [T/G] NM_000130 F5 EXON Missense_D1134E exm121847 1 169510964 [A/G] NM_000130 F5 EXON Missense_P1122S exm121848 1 169511003 [T/C] NM_000130 F5 EXON Missense_G1109S exm121850 1 169511071 [A/G] NM_000130 F5 EXON Missense_L1086S exm121855 1 169511117 [A/G] NM_000130 F5 EXON Missense_H1071Y exm121857 1 169511166 [T/G] NM_000130 F5 EXON Missense_E1054D indel.8287 1 169511316 [I/D] NM_000130 F5 EXON exm121862 1 169511389 [A/C] NM_000130 F5 EXON Missense_R980L variant.8288 1 169511390 [A/G] NM_000130 F5 EXON Missense_R980C exm121867 1 169511422 [T/C] NM_000130 F5 EXON Missense_N969S exm121868 1 169511429 [T/C] NM_000130 F5 EXON Missense_A967T exm121873 1 169511464 [A/C] NM_000130 F5 EXON Missense_S955I exm121877 1 169511522 [G/C] NM_000130 F5 EXON Missense_Q936E exm121879 1 169511555 [T/C] NM_000130 F5 EXON Missense_K925E exm121881 1 169511576 [A/G] NM_000130 F5 EXON Missense_P918S exm121885 1 169511615 [T/C] NM_000130 F5 EXON Missense_R905G exm121894 1 169511734 [T/C] NM_000130 F5 EXON Missense_H865R exm121896 1 169511755 [T/C] NM_000130 F5 EXON Missense_K858R exm121903 1 169511878 [T/G] NM_000130 F5 EXON Missense_N817T exm121907 1 169511903 [A/G] NM_000130 F5 EXON Missense_P809S exm121912 1 169511989 [A/G] NM_000130 F5 EXON Missense_P780L 1KG_1_169512078 1 169512078 [I/D] NM_000130 F5 EXON exm121924 1 169512109 [T/C] NM_000130 F5 EXON Missense_R740Q rs6016 1 169512120 [A/G] NM_000130 F5 EXON Synonymous_I736I exm121929 1 169512199 [T/C] NM_000130 F5 EXON Missense_H710R variant.8290 1 169512249 [A/C] NM_000130 F5 EXON Nonsense_Y693X exm2231787 1 169512296 [T/C] NM_000130 F5 EXON Missense_K678E variant.8291 1 169512296 [T/C] NM_000130 F5 EXON Missense_K678E exm121936 1 169512319 [C/G] NM_000130 F5 EXON Missense_P670R exm121943 1 169513583 [T/G] NM_000130 F5 EXON Synonymous_T642T exm2250216 1 169513583 [T/G] NM_000130 F5 EXON Synonymous_T642T rs1018827 1 169514006 [A/G] NM_000130 F5 Silent rs3766110 1 169515183 [A/C] NM_000130 F5 Silent exm121962 1 169519086 [C/G] NM_000130 F5 EXON Missense_L522V rs6020 1 169519112 [T/C] NM_000130 F5 EXON Missense_R513K exm121964 1 169519112 [T/C] NM_000130 F5 EXON Missense_R513K exm121969 1 169519883 [A/G] NM_000130 F5 EXON Missense_T464I exm121977 1 169521853 [A/G] NM_000130 F5 EXON Missense_M413T exm121983 1 169524432 [A/G] NM_000130 F5 EXON Missense_A369V indel.8293 1 169524460 [I/D] NM_000130 F5 EXON exm121985 1 169524517 [A/G] NM_000130 F5 EXON Missense_R341C newrs118203905 1 169524538 [T/C] NM_000130 F5 EXON Missense_R334G exm121989 1 169524542 [T/G] NM_000130 F5 EXON Missense_K332N variant.8296 1 169525925 [T/C] NM_000130 F5 EXON Missense_G304E exm2259849 1 169527856 [T/C] NM_000130 F5 Silent rs3766117 1 169527856 [T/C] NM_000130 F5 Silent var_1_169528429 1 169528429 [A/C] NM_000130 F5 EXON Missense_M231R exm122008 1 169528493 [T/G] NM_000130 F5 EXON Missense_Q210K exm122012 1 169529812 [A/G] NM_000130 F5 EXON Missense_P189L exm122015 1 169529840 [T/C] NM_000130 F5 EXON Missense_E180K rs6029 1 169529973 [T/C] NM_000130 F5 EXON Synonymous_A135A exm122022 1 169529974 [A/G] NM_000130 F5 EXON Missense_A135V rs1894702 1 169530837 [T/G] NM_000130 F5 Silent exm122025 1 169541513 [C/G] NM_000130 F5 EXON Missense_D107H variant.8299 1 169541549 [T/C] NM_000130 F5 EXON Missense_G95R rs6691048 1 169542135 [T/C] NM_000130 F5 Silent rs6028 1 169551682 [T/C] NM_000130 F5 EXON Synonymous_Q79Q exm122035 1 169555519 [T/C] NM_000130 F5 EXON Missense_V36M exm122036 1 169555582 [T/C] NM_000130 F5 EXON Missense_G15S rs1018828 1 169557734 [T/G] exm122039 1 169559396 [A/G] NM_003005 SELP EXON Missense_P828L variant.8300 1 169559441 [A/C] NM_003005 SELP Silent exm122044 1 169562857 [T/C] NM_003005 SELP EXON Missense_R798H exm122045 1 169562881 [A/G] NM_003005 SELP EXON Missense_T790M exm122058 1 169563951 [T/G] NM_003005 SELP EXON Missense_T756P indel.8302 1 169564009 [I/D] NM_003005 SELP EXON exm122062 1 169564037 [T/C] NM_003005 SELP EXON Missense_G727E rs3917816 1 169565021 [A/G] NM_003005 SELP Silent exm122070 1 169565246 [T/C] NM_003005 SELP EXON Missense_N673S exm122071 1 169565282 [T/G] NM_003005 SELP EXON Missense_T661N exm122075 1 169565346 [A/C] NM_003005 SELP EXON Missense_V640L rs6133 1 169565346 [A/C] NM_003005 SELP EXON Missense_V640L exm122077 1 169565372 [A/C] NM_003005 SELP EXON Missense_G631V variant.8305 1 169566254 [T/C] NM_003005 SELP EXON Nonsense_W622X exm122081 1 169566265 [A/C] NM_003005 SELP EXON Missense_S619A exm122085 1 169566310 [A/T] NM_003005 SELP EXON Missense_N604Y exm122086 1 169566313 [T/C] NM_003005 SELP EXON Missense_D603N rs6127 1 169566313 [T/C] NM_003005 SELP EXON Missense_D603N rs760694 1 169568698 [T/G] NM_003005 SELP Silent rs3917775 1 169571076 [T/C] NM_003005 SELP Silent exm122094 1 169572289 [T/C] NM_003005 SELP EXON Nonsense_W560X exm122095 1 169572294 [A/G] NM_003005 SELP EXON Missense_R559C newrs144413164 1 169572303 [A/G] NM_003005 SELP EXON Nonsense_R556X exm122104 1 169572434 [T/G] NM_003005 SELP EXON Missense_P512H rs2205895 1 169572645 [T/C] NM_003005 SELP Silent exm122106 1 169576207 [A/G] NM_003005 SELP EXON Missense_S500F exm122110 1 169576333 [T/C] NM_003005 SELP EXON Missense_R458Q exm122111 1 169576372 [C/G] NM_003005 SELP EXON Missense_A445G variant.8311 1 169578741 [A/C] NM_003005 SELP Silent exm122117 1 169578789 [T/C] NM_003005 SELP EXON Missense_R429Q exm122118 1 169578799 [T/C] NM_003005 SELP EXON Missense_D426N exm122119 1 169578810 [A/T] NM_003005 SELP EXON Missense_L422Q exm122120 1 169578831 [T/C] NM_003005 SELP EXON Missense_R415H exm122121 1 169578832 [A/G] NM_003005 SELP EXON Missense_R415C exm122125 1 169578894 [T/C] NM_003005 SELP EXON Missense_H394R exm122128 1 169578921 [A/G] NM_003005 SELP EXON Missense_S385L exm-rs2235302 1 169580290 [T/C] NM_003005 SELP Silent exm122133 1 169580777 [T/C] NM_003005 SELP EXON Missense_R367H exm122135 1 169580782 [T/C] NM_003005 SELP EXON Missense_M365I exm122136 1 169580789 [A/G] NM_003005 SELP EXON Missense_L363S exm122137 1 169580808 [T/C] NM_003005 SELP EXON Missense_G357S exm122139 1 169580858 [A/G] NM_003005 SELP EXON Missense_P340L exm122142 1 169580885 [T/C] NM_003005 SELP EXON Missense_S331N exm1733839 1 169580892 [T/C] NM_003005 SELP EXON Missense_A329T variant.8312 1 169581498 [T/G] NM_003005 SELP EXON Nonsense_C306X exm122146 1 169581514 [A/G] NM_003005 SELP EXON Missense_P301L rs3917724 1 169581595 [A/G] NM_003005 SELP EXON Missense_T274I exm122147 1 169581595 [A/G] NM_003005 SELP EXON Missense_T274I exm122148 1 169581608 [A/G] NM_003005 SELP EXON Nonsense_R270X exm122158 1 169582317 [T/C] NM_003005 SELP EXON Missense_V209M exm122161 1 169582825 [A/G] NM_003005 SELP EXON Synonymous_Y196Y exm122162 1 169582878 [T/C] NM_003005 SELP EXON Missense_G179R exm122171 1 169586281 [T/C] NM_003005 SELP EXON Missense_A156T newrs143425360 1 169586464 [A/G] NM_003005 SELP EXON Nonsense_R95X exm122190 1 169586577 [T/C] NM_003005 SELP EXON Missense_R57H exm122195 1 169588415 [T/C] NM_003005 SELP EXON Missense_V16M exm2268782 1 169591080 [T/C] NM_003005 SELP Silent rs2236866 1 169596313 [A/T] NM_003005 SELP Silent rs1800805 1 169601281 [T/C] exm-rs1569476 1 169608917 [T/C] rs17589700 1 169614949 [A/G] rs10800463 1 169623104 [A/G] rs1569475 1 169623680 [T/C] rs6663862 1 169648469 [A/G] rs7531806 1 169651044 [A/G] rs4987389 1 169658509 [T/A] rs4987388 1 169658586 [A/G] rs12938 1 169660781 [A/G] NM_000655,NR_029467 SELL,SELL EXON Silent,Silent exm122202 1 169660939 [T/C] NM_000655,NR_029467 SELL,SELL EXON Missense_N382D,Silent rs2223286 1 169665632 [T/C] NM_000655,NR_029467 SELL,SELL Silent,Silent exm122207 1 169670700 [T/C] NM_000655,NR_029467 SELL,SELL Silent,Silent exm122209 1 169670822 [T/G] NM_000655,NR_029467 SELL,SELL EXON Missense_D333E,Silent rs964555 1 169671088 [A/C] NM_000655,NR_029467 SELL,SELL Silent,Silent exm122215 1 169673838 [A/G] NM_000655,NR_029467 SELL,SELL EXON Missense_P226S,Silent rs4987310 1 169673838 [A/G] NM_000655,NR_029467 SELL,SELL EXON Missense_P226S,Silent exm122219 1 169673874 [C/G] NM_000655,NR_029467 SELL,SELL EXON Missense_E214Q,Silent exm122222 1 169676486 [A/G] NM_000655,NR_029467 SELL,SELL EXON Missense_F206L,Silent rs1051091 1 169677709 [A/G] NM_000655,NR_029467 SELL,SELL EXON Synonymous_L120L,Silent indel.8319 1 169677847 [I/D] NM_000655,NR_029467 SELL,SELL EXON exm122237 1 169677923 [G/C] NM_000655,NR_029467 SELL,SELL EXON Missense_T49S,Silent exm122239 1 169679619 [A/G] NM_000655 SELL EXON Missense_W28R variant.8321 1 169680637 [T/C] NM_000655 SELL EXON Missense_M14I rs4786 1 169692132 [T/C] NM_000450 SELE EXON Silent exm122246 1 169694935 [C/G] NM_000450 SELE EXON Missense_Q595E exm122251 1 169695870 [A/G] NM_000450 SELE EXON Missense_L575F exm122254 1 169695945 [A/G] NM_000450 SELE EXON Missense_P550S exm1733894 1 169696581 [A/G] NM_000450 SELE EXON Synonymous_F518F exm122267 1 169696946 [A/G] NM_000450 SELE EXON Missense_H468Y exm122271 1 169697057 [T/C] NM_000450 SELE EXON Missense_D431N exm122275 1 169697217 [C/G] NM_000450 SELE EXON Missense_E421Q exm122282 1 169697312 [T/C] NM_000450 SELE EXON Missense_R389H exm122283 1 169697313 [A/G] NM_000450 SELE EXON Missense_R389C exm122288 1 169698442 [T/G] NM_000450 SELE EXON Missense_F325L exm122297 1 169698647 [T/C] NM_000450 SELE EXON Missense_E295K exm122300 1 169698760 [T/G] NM_000450 SELE EXON Missense_Q257P variant.8323 1 169699572 [T/C] NM_000450 SELE Silent rs3917419 1 169699819 [A/G] NM_000450 SELE Silent rs2179172 1 169700155 [A/C] NM_000450 SELE Silent exm122321 1 169701060 [T/G] NM_000450 SELE EXON Missense_S149R exm122323 1 169701771 [A/C] NM_000450 SELE EXON Missense_A136S exm1733905 1 169701809 [T/C] NM_000450 SELE EXON Missense_G123D exm122328 1 169701851 [T/C] NM_000450 SELE EXON Missense_E109G exm122329 1 169701892 [A/C] NM_000450 SELE EXON Missense_K95N rs1800015 1 169701904 [T/C] NM_000450 SELE EXON Synonymous_T91T exm122337 1 169702116 [A/C] NM_000450 SELE EXON Missense_A21S variant.8326 1 169702717 [A/C] NM_000450 SELE EXON Missense_V13L rs10489182 1 169710669 [A/G] rs16862670 1 169714473 [A/G] rs969310 1 169719338 [A/G] rs12027035 1 169738202 [T/G] rs2205851 1 169739650 [T/C] rs12035144 1 169749154 [A/G] rs10919242 1 169755988 [T/C] rs10157266 1 169756389 [A/G] rs12135656 1 169758843 [A/G] exm122363 1 169761758 [T/A] NM_001320199,NM_033418,NM_001320201 METTL18,METTL18,METTL18 EXON Missense_K360M,Missense_K360M,Missense_K360M exm122367 1 169761863 [A/G] NM_001320199,NM_033418,NM_001320201 METTL18,METTL18,METTL18 EXON Missense_A325V,Missense_A325V,Missense_A325V exm122370 1 169761897 [T/G] NM_001320199,NM_033418,NM_001320201 METTL18,METTL18,METTL18 EXON Missense_S314R,Missense_S314R,Missense_S314R exm122371 1 169761910 [G/C] NM_001320199,NM_033418,NM_001320201 METTL18,METTL18,METTL18 EXON Missense_F309L,Missense_F309L,Missense_F309L exm122379 1 169762047 [A/G] NM_001320199,NM_033418,NM_001320201 METTL18,METTL18,METTL18 EXON Nonsense_R264X,Nonsense_R264X,Nonsense_R264X indel.8328 1 169762232 [D/I] NM_001320199,NM_033418,NM_001320201 METTL18,METTL18,METTL18 EXON exm122391 1 169762473 [G/C] NM_001320199,NM_033418,NM_001320201 METTL18,METTL18,METTL18 EXON Missense_P122A,Missense_P122A,Missense_P122A exm122394 1 169762613 [A/G] NM_001320199,NM_033418,NM_001320201 METTL18,METTL18,METTL18 EXON Missense_T75I,Missense_T75I,Missense_T75I exm122395 1 169762661 [T/G] NM_001320199,NM_033418,NM_001320201 METTL18,METTL18,METTL18 EXON Missense_H59P,Missense_H59P,Missense_H59P exm122396 1 169762670 [C/G] NM_001320199,NM_033418,NM_001320201 METTL18,METTL18,METTL18 EXON Missense_P56R,Missense_P56R,Missense_P56R rs10489177 1 169762807 [T/G] NM_001320199,NM_033418,NM_001320201 METTL18,METTL18,METTL18 EXON Missense_E10D,Missense_E10D,Missense_E10D exm122404 1 169762807 [T/G] NM_001320199,NM_033418,NM_001320201 METTL18,METTL18,METTL18 EXON Missense_E10D,Missense_E10D,Missense_E10D exm1733910 1 169762826 [T/C] NM_001320199,NM_033418,NM_001320201 METTL18,METTL18,METTL18 EXON Missense_Q4R,Missense_Q4R,Missense_Q4R exm122421 1 169770059 [T/C] NM_001320051,NM_001320047,NM_001363739,NM_001320050,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112,C1orf112,C1orf112 EXON Missense_H5Y,Missense_H5Y,Silent,Missense_H63Y,Silent,Missense_H5Y exm122436 1 169772397 [A/G] NM_001320051,NM_001320047,NM_001363739,NM_001320050,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112,C1orf112,C1orf112 EXON Missense_S87G,Missense_S87G,Silent,Missense_S145G,Silent,Missense_S87G exm122443 1 169773226 [C/G] NM_001320051,NM_001320047,NM_001363739,NM_001320050,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112,C1orf112,C1orf112 EXON Missense_S108C,Missense_S108C,Silent,Silent,Silent,Missense_S108C variant.8332 1 169773244 [T/G] NM_001320051,NM_001320047,NM_001363739,NM_001320050,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112,C1orf112,C1orf112 EXON Nonsense_L114X,Nonsense_L114X,Silent,Silent,Silent,Nonsense_L114X exm2273719 1 169773337 [A/G] NM_001320051,NM_001320047,NM_001363739,NM_001320050,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112,C1orf112,C1orf112 EXON Missense_D145G,Missense_D145G,Silent,Silent,Missense_D10G,Missense_D145G exm122451 1 169773351 [T/G] NM_001320051,NM_001320047,NM_001363739,NM_001320050,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112,C1orf112,C1orf112 EXON Missense_D150Y,Missense_D150Y,Silent,Silent,Missense_D15Y,Missense_D150Y exm122456 1 169775208 [A/G] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 EXON Missense_N181S,Silent,Missense_N46S,Missense_N181S exm122475 1 169776993 [A/G] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 EXON Missense_S209G,Silent,Missense_S74G,Missense_S209G exm122476 1 169777033 [T/G] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 EXON Nonsense_L222X,Silent,Nonsense_L87X,Nonsense_L222X exm2231794 1 169792583 [T/C] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 EXON Missense_T273I,Silent,Missense_T138I,Missense_T273I rs9803860 1 169794359 [A/G] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 Silent,Silent,Silent,Silent exm122508 1 169796197 [T/C] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 EXON Missense_F285S,Silent,Missense_F150S,Missense_F285S exm122521 1 169798423 [A/G] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 EXON Missense_V383I,Missense_V60I,Missense_V248I,Missense_V383I exm122522 1 169798444 [T/C] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 EXON Missense_C390R,Missense_C67R,Missense_C255R,Missense_C390R exm122523 1 169798477 [T/C] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 EXON Nonsense_Q401X,Nonsense_Q78X,Nonsense_Q266X,Nonsense_Q401X indel.8336 1 169798483 [I/D] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 EXON var_1_169799487 1 169799487 [A/G] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 Silent,Silent,Silent,Silent exm122537 1 169799880 [T/G] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 EXON Missense_A481S,Missense_A158S,Missense_A346S,Missense_A481S variant.8338 1 169799889 [A/G] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 Silent,Silent,Silent,Silent rs7521700 1 169802760 [T/G] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 Silent,Silent,Silent,Silent exm122553 1 169806228 [A/G] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 EXON Missense_R567H,Missense_R244H,Missense_R432H,Missense_R567H exm122561 1 169811625 [A/C] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 EXON Missense_Q598P,Missense_Q275P,Missense_Q463P,Missense_Q598P exm122563 1 169812828 [T/C] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 EXON Missense_P621L,Missense_P298L,Missense_P486L,Missense_P621L indel.8340 1 169816871 [D/I] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 EXON exm122573 1 169816943 [A/G] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 EXON Missense_Q686R,Missense_Q363R,Missense_Q551R,Missense_Q686R rs2272918 1 169818880 [A/G] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 Silent,Silent,Silent,Silent rs3817859 1 169819065 [A/G] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 Silent,Silent,Silent,Silent exm122584 1 169820962 [A/G] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 EXON Missense_G750E,Missense_G427E,Missense_G615E,Missense_G750E variant.8341 1 169821006 [T/C] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 EXON Nonsense_Q765X,Nonsense_Q442X,Nonsense_Q630X,Nonsense_Q765X exm122590 1 169821055 [A/C] NM_001320047,NM_001363739,NM_001320048,NM_018186 C1orf112,C1orf112,C1orf112,C1orf112 EXON Missense_E781A,Missense_E458A,Missense_E646A,Missense_E781A indel.8342 1 169822860 [I/D] NM_181093,NM_020423 SCYL3,SCYL3 EXON exm122605 1 169823521 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_A687T,Missense_A633T exm122609 1 169823611 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_E657K,Missense_E603K rs1062976 1 169823660 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Synonymous_V640V,Synonymous_V586V exm122611 1 169823670 [A/G] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_P637L,Missense_P583L exm122614 1 169823718 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_Q621R,Missense_Q567R exm1733958 1 169823778 [A/G] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_P601L,Missense_P547L exm122617 1 169823790 [G/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_G597A,Missense_G543A exm122627 1 169824104 [A/G] NM_181093,NM_020423 SCYL3,SCYL3 EXON Synonymous_G492G,Synonymous_G438G exm122633 1 169824967 [A/G] NM_181093,NM_020423 SCYL3,SCYL3 EXON Nonsense_R482X,Silent exm122635 1 169824981 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_K477R,Silent exm122639 1 169825074 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_S446N,Silent exm122640 1 169825081 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_V444I,Silent exm122641 1 169825090 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_M441V,Silent exm122650 1 169831884 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_R337Q,Missense_R337Q exm122651 1 169831885 [A/G] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_R337W,Missense_R337W variant.8345 1 169833510 [A/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_D319Y,Missense_D319Y rs4508080 1 169834216 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 Silent,Silent exm122663 1 169839471 [A/G] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_C184R,Missense_C184R exm122668 1 169842839 [A/T] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_M174L,Missense_M174L exm122672 1 169845195 [A/G] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_V130A,Missense_V130A rs16862745 1 169860199 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 Silent,Silent rs6670818 1 169869344 [A/G] rs16862751 1 169884386 [A/G] rs2485462 1 169886210 [A/G] exm122689 1 169890903 [T/C] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_G765S,Missense_G721S,Missense_G687S,Missense_G725S rs10919271 1 169905053 [A/G] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent variant.8347 1 169930182 [A/G] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent variant.8348 1 169930186 [A/C] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent exm122698 1 169930214 [T/C] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_E716K,Missense_E672K,Missense_E638K,Missense_E676K variant.8350 1 169947225 [T/C] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent exm122706 1 169951967 [T/A] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_E516D,Missense_E472D,Missense_E438D,Missense_E476D exm2250222 1 169951997 [T/C] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Synonymous_G506G,Synonymous_G462G,Synonymous_G428G,Synonymous_G466G indel.8351 1 169952519 [I/D] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON exm122715 1 169953815 [A/C] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_F434C,Missense_F390C,Missense_F356C,Missense_F394C rs546894 1 169956450 [T/C] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent rs16862933 1 169985796 [A/G] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent exm-rs1541160 1 169995802 [T/C] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent variant.8353 1 170003512 [T/C] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent rs4656732 1 170004722 [A/G] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent exm1734074 1 170007557 [T/C] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_N131D,Missense_N87D,Missense_N53D,Missense_N91D variant.8354 1 170015901 [A/G] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Nonsense_Q91X,Nonsense_Q47X,Silent,Nonsense_Q51X exm122753 1 170015987 [T/C] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_N62S,Missense_N18S,Silent,Missense_N22S exm2231803 1 170016002 [A/C] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_R57L,Missense_R13L,Silent,Missense_R17L rs1330369 1 170017067 [A/C] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent exm122755 1 170024513 [G/C] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_V33L,Silent,Silent,Silent rs12146137 1 170037624 [T/C] NM_014970,NM_001204516,NM_001204514,NM_001204517 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Silent,Silent,Silent,Silent rs11588736 1 170048831 [A/G] rs10919299 1 170067296 [A/G] rs12042109 1 170085453 [A/C] rs10800498 1 170103732 [A/G] rs575119 1 170112399 [A/G] exm122762 1 170115300 [G/C] NM_001136107 METTL11B EXON Missense_D18H exm122764 1 170115331 [T/G] NM_001136107 METTL11B EXON Missense_F28C rs10919307 1 170118691 [A/G] NM_001136107 METTL11B Silent exm122766 1 170129701 [T/C] NM_001136107 METTL11B EXON Missense_M66T exm122769 1 170129827 [T/C] NM_001136107 METTL11B EXON Missense_F108S rs504944 1 170131293 [A/C] NM_001136107 METTL11B Silent exm122771 1 170135646 [T/C] NM_001136107 METTL11B EXON Missense_P112S exm122773 1 170135693 [A/G] NM_001136107 METTL11B EXON Missense_I127M exm122775 1 170135760 [T/C] NM_001136107 METTL11B EXON Missense_S150P variant.8355 1 170135864 [T/G] NM_001136107 METTL11B EXON Nonsense_Y184X variant.8356 1 170136671 [T/C] NM_001136107 METTL11B EXON Nonsense_R209X exm122781 1 170136672 [A/G] NM_001136107 METTL11B EXON Missense_R209Q exm122788 1 170136876 [T/C] NM_001136107 METTL11B EXON Missense_L277P rs11585754 1 170141722 [A/C] rs519459 1 170143426 [A/C] rs486427 1 170145099 [A/C] NR_146891 LINC01681 Silent rs533550 1 170147431 [A/G] NR_146891 LINC01681 Silent rs10919319 1 170152927 [A/C] NR_146891 LINC01681 Silent rs7518785 1 170168182 [T/C] NR_146891 LINC01681 Silent rs10919325 1 170171083 [T/G] NR_146891 LINC01681 Silent rs12043515 1 170171702 [T/C] NR_146891 LINC01681 Silent rs7535510 1 170180338 [T/C] NR_146891 LINC01681 Silent rs4411179 1 170182640 [T/G] NR_146891 LINC01681 Silent rs6657002 1 170187309 [T/C] NR_146891 LINC01681 Silent rs4437927 1 170196342 [A/G] NR_146891 LINC01681 Silent rs2225588 1 170202563 [A/C] NR_146891 LINC01681 Silent rs983118 1 170206902 [A/G] NR_146891 LINC01681 Silent rs1412788 1 170208425 [A/G] NR_146891 LINC01681 Silent rs12028052 1 170208435 [A/G] NR_146891 LINC01681 Silent rs1412787 1 170208724 [T/C] NR_146891 LINC01681 Silent rs10919336 1 170216805 [A/G] rs10919337 1 170217002 [A/G] rs2019438 1 170220252 [A/G] rs1547282 1 170223350 [A/C] rs1556498 1 170231780 [A/G] rs7517657 1 170237860 [A/G] rs2254605 1 170240085 [A/G] rs2095134 1 170254945 [A/G] rs2184042 1 170256887 [A/G] rs986032 1 170283044 [A/G] rs1332969 1 170297878 [A/G] rs16863267 1 170299594 [T/C] rs16863314 1 170326065 [T/G] rs1930537 1 170330500 [T/G] rs10919364 1 170336440 [T/C] rs10919369 1 170346164 [T/C] exm2268946 1 170346406 [T/C] rs864299 1 170346406 [T/C] rs1071521 1 170356917 [A/G] rs1112882 1 170363183 [A/G] rs10919388 1 170372503 [A/C] rs6427247 1 170380480 [A/G] rs16863343 1 170391041 [T/C] rs1333141 1 170407926 [T/G] rs6427252 1 170409400 [T/C] rs16863354 1 170416126 [T/G] rs4294468 1 170433781 [A/G] NR_125958 LOC101928650 Silent rs12044570 1 170443579 [T/C] NR_125958 LOC101928650 Silent rs12119012 1 170446678 [T/C] NR_125958 LOC101928650 Silent rs16863397 1 170501167 [T/C] NR_125958 LOC101928650 Silent rs11578119 1 170501456 [T/C] NR_125958,NM_001146039,NM_152281,NM_001320252,NR_027397 LOC101928650,GORAB,GORAB,GORAB,GORAB Silent,Silent,Silent,Silent,Silent exm122812 1 170508497 [A/G] NM_001146039,NM_152281,NM_001320252,NR_027397 GORAB,GORAB,GORAB,GORAB EXON Missense_K95E,Missense_K95E,Silent,Silent exm122833 1 170513949 [T/C] NM_001146039,NM_152281,NM_001320252,NR_027397 GORAB,GORAB,GORAB,GORAB EXON Missense_R234W,Missense_R234W,Missense_R54W,Silent exm122834 1 170513950 [A/G] NM_001146039,NM_152281,NM_001320252,NR_027397 GORAB,GORAB,GORAB,GORAB EXON Missense_R234Q,Missense_R234Q,Missense_R54Q,Silent variant.8359 1 170513986 [A/G] NM_001146039,NM_152281,NM_001320252,NR_027397 GORAB,GORAB,GORAB,GORAB EXON Missense_R246Q,Missense_R246Q,Missense_R66Q,Silent rs16863425 1 170519884 [T/C] NM_152281,NM_001320252,NR_027397 GORAB,GORAB,GORAB Silent,Silent,Silent exm122839 1 170521158 [A/G] NM_152281,NM_001320252,NR_027397 GORAB,GORAB,GORAB EXON Missense_K247R,Missense_K67R,Silent exm122841 1 170521163 [T/C] NM_152281,NM_001320252,NR_027397 GORAB,GORAB,GORAB EXON Missense_F249L,Missense_F69L,Silent exm1734327 1 170521212 [A/G] NM_152281,NM_001320252,NR_027397 GORAB,GORAB,GORAB EXON Missense_R265H,Missense_R85H,Silent rs913257 1 170521376 [A/G] NM_152281,NM_001320252,NR_027397 GORAB,GORAB,GORAB EXON Missense_E320K,Missense_E140K,Silent exm122851 1 170521376 [A/G] NM_152281,NM_001320252,NR_027397 GORAB,GORAB,GORAB EXON Missense_E320K,Missense_E140K,Silent exm122854 1 170521413 [T/G] NM_152281,NM_001320252,NR_027397 GORAB,GORAB,GORAB EXON Nonsense_L332X,Nonsense_L152X,Silent rs12564005 1 170528547 [A/G] rs7535322 1 170554924 [A/G] rs6697185 1 170564545 [A/G] rs7540157 1 170582464 [T/C] rs619456 1 170585832 [A/C] rs577676 1 170587340 [T/C] rs2022373 1 170588594 [T/C] rs517493 1 170595835 [T/C] rs639652 1 170612873 [A/G] rs12129225 1 170615833 [T/C] rs608930 1 170617306 [T/G] rs501680 1 170625867 [T/C] exm122864 1 170633397 [T/C] NM_006902,NM_022716 PRRX1,PRRX1 EXON Missense_P13L,Missense_P13L rs659580 1 170633896 [T/C] NM_006902,NM_022716 PRRX1,PRRX1 Silent,Silent rs593479 1 170642899 [T/C] NM_006902,NM_022716 PRRX1,PRRX1 Silent,Silent rs520131 1 170654118 [T/C] NM_006902,NM_022716 PRRX1,PRRX1 Silent,Silent rs17550940 1 170657335 [A/C] NM_006902,NM_022716 PRRX1,PRRX1 Silent,Silent rs513287 1 170664237 [A/G] NM_006902,NM_022716 PRRX1,PRRX1 Silent,Silent exm122874 1 170688935 [A/G] NM_006902,NM_022716 PRRX1,PRRX1 EXON Missense_S104G,Missense_S104G exm122883 1 170695466 [A/G] NM_006902,NM_022716 PRRX1,PRRX1 EXON Missense_V175M,Missense_V175M rs1476040 1 170700758 [A/G] NM_006902,NM_022716 PRRX1,PRRX1 Silent,Silent exm122892 1 170705189 [A/C] NM_006902,NM_022716 PRRX1,PRRX1 EXON Silent,Missense_S200R exm122896 1 170705229 [T/C] NM_006902,NM_022716 PRRX1,PRRX1 EXON Silent,Missense_P214S exm122898 1 170705313 [T/C] NM_006902,NM_022716 PRRX1,PRRX1 EXON Silent,Missense_P242S rs2421494 1 170715531 [A/G] rs6702078 1 170719666 [A/C] rs4644548 1 170725164 [T/C] exm2250228 1 170727442 [T/C] rs10919470 1 170762680 [A/G] rs6677593 1 170767276 [A/G] rs2143109 1 170773031 [A/G] rs6664881 1 170805627 [A/G] rs10800546 1 170807586 [A/G] rs7551763 1 170814360 [T/C] rs6664433 1 170818339 [T/C] rs3765377 1 170837041 [T/C] rs10489239 1 170856852 [T/C] rs6667186 1 170859317 [A/G] rs979070 1 170897273 [A/G] rs4656815 1 170901445 [A/G] rs6681553 1 170903771 [T/C] rs2143383 1 170907494 [T/G] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent rs6695615 1 170908174 [T/C] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent rs4656233 1 170915133 [T/C] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent exm122907 1 170927615 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_N29S,Missense_N29S exm122912 1 170928652 [T/A] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_S68T,Missense_S68T exm122913 1 170928671 [T/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_V74A,Missense_V74A exm122916 1 170928730 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_D94N,Missense_D94N variant.8363 1 170928736 [T/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Nonsense_E96X,Nonsense_E96X rs6695676 1 170929213 [T/C] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent indel.8364 1 170931113 [D/I] NM_001163629,NM_025063 MROH9,MROH9 EXON exm122921 1 170934292 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_E126K,Missense_E126K exm122922 1 170934301 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_V129M,Missense_V129M exm122923 1 170934311 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_S132N,Missense_S132N exm122925 1 170934394 [T/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_Y160H,Missense_Y160H variant.8365 1 170934397 [A/G] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent rs9427206 1 170937288 [T/G] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent exm122934 1 170941013 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_R202Q,Missense_R202Q exm122935 1 170941023 [T/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Synonymous_N205N,Synonymous_N205N exm122942 1 170952626 [T/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_V227A,Missense_V227A exm122943 1 170952628 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_E228K,Missense_E228K exm122944 1 170952652 [A/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_Q236K,Missense_Q236K variant.8367 1 170952676 [T/G] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent rs16863898 1 170954182 [A/G] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent rs2223610 1 170958136 [T/C] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent rs16863922 1 170959029 [T/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Synonymous_L305L,Synonymous_L305L exm122954 1 170959067 [T/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_Q317H,Missense_Q317H exm122957 1 170959137 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_A341T,Missense_A341T exm122959 1 170961328 [T/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_A351V,Missense_A351V exm122961 1 170961360 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_V362M,Missense_V362M exm122966 1 170961433 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_R386H,Missense_R386H exm122968 1 170964537 [A/T] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_Q401L,Missense_Q401L exm1734423 1 170964609 [T/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_T425M,Missense_T425M exm122973 1 170964656 [C/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_L441V,Missense_L441V exm122977 1 170965662 [T/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_A451V,Missense_A451V exm122981 1 170965700 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_V464M,Missense_V464M exm122984 1 170965751 [C/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_L481V,Missense_L481V rs9427214 1 170966813 [A/C] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent 1KG_1_170967308 1 170967308 [I/D] NM_001163629,NM_025063 MROH9,MROH9 EXON exm122993 1 170967395 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Missense_V526I,Missense_V526I exm122997 1 170967494 [A/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Silent,Missense_V559I variant.8370 1 170967524 [T/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Silent,Nonsense_Q569X exm123005 1 170985430 [T/G] NM_001163629 MROH9 EXON Missense_S621A exm123007 1 170985471 [T/G] NM_001163629 MROH9 EXON Missense_M634I exm123008 1 170993566 [C/G] NM_001163629 MROH9 EXON Missense_R647G exm123009 1 170993803 [T/C] NM_001163629 MROH9 EXON Missense_T692I exm123015 1 171033252 [T/C] NM_001163629 MROH9 EXON Missense_L786P rs16863955 1 171034797 [A/G] rs6608458 1 171040083 [A/G] rs2091657 1 171045317 [A/C] rs7474070 1 171050589 [T/C] rs12118296 1 171054550 [T/C] rs7880493 1 171061033 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 Silent,Silent,Silent,Silent rs12076145 1 171069959 [A/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 Silent,Silent,Silent,Silent variant.8371 1 171072924 [A/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 Silent,Silent,Silent,Silent newrs144935285 1 171072965 [A/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Silent,Missense_V58I,Missense_V58I,Missense_V38I exm1734444 1 171072965 [A/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Silent,Missense_V58I,Missense_V58I,Missense_V38I indel.8373 1 171073015 [D/I] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON newrs72549324 1 171073038 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Silent,Missense_M82T,Missense_M82T,Missense_M62T rs1080197 1 171075997 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 Silent,Silent,Silent,Silent exm1734449 1 171076835 [A/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_N51S,Missense_N114S,Missense_N114S,Missense_N94S rs28363546 1 171076887 [A/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Synonymous_R68R,Synonymous_R131R,Synonymous_R131R,Synonymous_R111R exm123035 1 171076888 [G/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_D69H,Missense_D132H,Missense_D132H,Missense_D112H rs1800822 1 171076935 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Synonymous_S84S,Synonymous_S147S,Synonymous_S147S,Synonymous_S127S exm123041 1 171076952 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_P90L,Missense_P153L,Missense_P153L,Missense_P133L newrs72549326 1 171076952 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_P90L,Missense_P153L,Missense_P153L,Missense_P133L rs2266782 1 171076966 [A/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_E95K,Missense_E158K,Missense_E158K,Missense_E138K exm123042 1 171076966 [A/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_E95K,Missense_E158K,Missense_E158K,Missense_E138K kgp12168787 1 171077274 [T/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_G117V,Missense_G180V,Missense_G180V,Missense_G160V exm123048 1 171077292 [A/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_R123H,Missense_R186H,Missense_R186H,Missense_R166H exm2231808 1 171077348 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_R142C,Missense_R205C,Missense_R205C,Missense_R185C variant.8382 1 171077363 [T/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 Silent,Silent,Silent,Silent rs10797894 1 171077782 [A/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 Silent,Silent,Silent,Silent rs2235192 1 171079549 [A/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 Silent,Silent,Silent,Silent 1KG_1_171079942 1 171079942 [I/D] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON variant.8383 1 171080024 [A/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_R175Q,Missense_R238Q,Missense_R238Q,Missense_R218Q rs1050902 1 171080028 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Synonymous_F176F,Synonymous_F239F,Synonymous_F239F,Synonymous_F219F exm123062 1 171080080 [A/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_V194M,Missense_V257M,Missense_V257M,Missense_V237M rs1736557 1 171080080 [A/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_V194M,Missense_V257M,Missense_V257M,Missense_V237M variant.8384 1 171080143 [T/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 Silent,Silent,Silent,Silent rs2075992 1 171080485 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 Silent,Silent,Silent,Silent rs909529 1 171082896 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 Silent,Silent,Silent,Silent exm123064 1 171083149 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_V214A,Missense_V277A,Missense_V277A,Missense_V257A rs909530 1 171083174 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Synonymous_N222N,Synonymous_N285N,Synonymous_N285N,Synonymous_N265N rs2066536 1 171083225 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Synonymous_N239N,Synonymous_N302N,Synonymous_N302N,Synonymous_N282N newrs61753344 1 171083232 [T/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Nonsense_E242X,Nonsense_E305X,Nonsense_E305X,Nonsense_E285X rs2266780 1 171083242 [A/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_E245G,Missense_E308G,Missense_E308G,Missense_E288G kgp15616966 1 171083288 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Synonymous_D260D,Synonymous_D323D,Synonymous_D323D,Synonymous_D303D indel.8386 1 171083327 [I/D] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON exm123079 1 171083398 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_L297P,Missense_L360P,Missense_L360P,Missense_L340P rs2066532 1 171083403 [C/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_E299Q,Missense_E362Q,Missense_E362Q,Missense_E342Q 1KG_1_171083456 1 171083457 [D/I] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON exm123084 1 171085368 [A/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_M339V,Missense_M402V,Missense_M402V,Missense_M382V kgp15838559 1 171085385 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Synonymous_N344N,Synonymous_N407N,Synonymous_N407N,Synonymous_N387N exm123086 1 171085386 [T/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_D345Y,Missense_D408Y,Missense_D408Y,Missense_D388Y exm123088 1 171085414 [A/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_R354H,Missense_R417H,Missense_R417H,Missense_R397H newrs72549332 1 171086285 [A/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_M371I,Missense_M434I,Missense_M434I,Missense_M414I exm123093 1 171086457 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_R429W,Missense_R492W,Missense_R492W,Missense_R472W kgp15922089 1 171086461 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_S430L,Missense_S493L,Missense_S493L,Missense_S473L exm123099 1 171086488 [T/G] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Missense_V439G,Missense_V502G,Missense_V502G,Missense_V482G indel.8393 1 171086504 [D/I] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON kgp15272661 1 171086513 [T/C] NM_001319174,NM_001002294,NM_006894,NM_001319173 FMO3,FMO3,FMO3,FMO3 EXON Synonymous_F447F,Synonymous_F510F,Synonymous_F510F,Synonymous_F490F rs12086786 1 171087660 [A/G] kgp5636706 1 171106931 [A/G] NR_002601 FMO6P EXON Silent kgp15484144 1 171107341 [A/T] NR_002601 FMO6P EXON Silent kgp2882776 1 171107688 [T/C] NR_002601 FMO6P EXON Silent kgp3492515 1 171107737 [T/G] NR_002601 FMO6P EXON Silent rs1920144 1 171110307 [T/C] NR_002601 FMO6P Silent 1KG_1_171115566 1 171115566 [D/I] NR_002601 FMO6P kgp24785030 1 171116865 [A/G] NR_002601 FMO6P EXON Silent kgp24887562 1 171116894 [A/G] NR_002601 FMO6P EXON Silent rs6608452 1 171117113 [T/C] NR_002601 FMO6P Silent rs2272797 1 171118840 [A/G] NR_002601 FMO6P EXON Silent rs1795244 1 171119021 [T/C] NR_002601 FMO6P Silent rs7889839 1 171121173 [A/G] NR_002601 FMO6P EXON Silent kgp6541618 1 171121206 [A/T] NR_002601 FMO6P EXON Silent rs7886938 1 171121268 [A/G] NR_002601 FMO6P EXON Silent kgp2938458 1 171123302 [T/C] NR_002601 FMO6P EXON Silent rs7885012 1 171127396 [A/G] NR_002601 FMO6P Silent kgp15654810 1 171130537 [C/G] NR_002601 FMO6P EXON Silent kgp1999495 1 171130539 [G/C] NR_002601 FMO6P EXON Silent kgp22794928 1 171130594 [A/C] NR_002601 FMO6P EXON Silent kgp15710030 1 171130667 [A/G] NR_002601 FMO6P EXON Silent rs11803918 1 171133716 [T/C] rs10912478 1 171136125 [A/G] rs7887295 1 171139823 [A/G] exm2264917 1 171139823 [A/G] rs7545752 1 171148521 [A/G] exm2268947 1 171151991 [T/G] rs3754495 1 171153448 [T/G] rs28369797 1 171154418 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Silent variant.8394 1 171154846 [A/G] NM_001301347,NM_001460 FMO2,FMO2 Silent,Silent rs2020870 1 171154959 [A/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Missense_D36G rs11806072 1 171156997 [A/G] NM_001301347,NM_001460 FMO2,FMO2 Silent,Silent rs12091865 1 171160698 [T/C] NM_001301347,NM_001460 FMO2,FMO2 Silent,Silent exm123130 1 171162516 [A/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Missense_V59I SNP42 1 171162516 [A/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Missense_V59I rs2020860 1 171162583 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Missense_F81S exm123134 1 171162583 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Missense_F81S variant.8395 1 171162660 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Nonsense_Q107X exm123146 1 171168497 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Missense_F166S exm123148 1 171168521 [A/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Missense_R174H rs2307492 1 171168545 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Missense_F182S exm123149 1 171168545 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Missense_F182S exm123152 1 171168584 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Missense_S195L kgp11839632 1 171168585 [A/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Synonymous_S195S indel.8396 1 171168608 [I/D] NM_001301347,NM_001460 FMO2,FMO2 EXON rs13376335 1 171169436 [T/C] NM_001301347,NM_001460 FMO2,FMO2 Silent,Silent rs7552423 1 171169703 [T/C] NM_001301347,NM_001460 FMO2,FMO2 Silent,Silent exm123156 1 171173044 [A/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Missense_R3H,Missense_R223H exm123157 1 171173058 [A/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Missense_G8S,Missense_G228S exm123159 1 171173089 [A/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Missense_R18Q,Missense_R238Q exm123162 1 171173121 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Nonsense_R29X,Nonsense_R249X exm123164 1 171173160 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Missense_R42W,Missense_R262W rs2075988 1 171173411 [T/C] NM_001301347,NM_001460 FMO2,FMO2 Silent,Silent indel.8398 1 171174438 [I/D] NM_001301347,NM_001460 FMO2,FMO2 EXON exm123168 1 171174462 [A/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Missense_R71H,Missense_R291H 1KG_1_171174481 1 171174481 [I/D] NM_001301347,NM_001460 FMO2,FMO2 EXON exm123172 1 171174531 [A/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Missense_E94G,Missense_E314G kgp25288372 1 171174613 [A/T] NM_001301347,NM_001460 FMO2,FMO2 EXON Synonymous_S121S,Synonymous_S341S variant.8400 1 171174774 [A/G] NM_001301347,NM_001460 FMO2,FMO2 Silent,Silent kgp15702103 1 171176879 [A/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Synonymous_E182E,Synonymous_E402E exm123191 1 171176912 [T/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Missense_N193K,Missense_N413K rs2075991 1 171177273 [A/G] NM_001301347,NM_001460 FMO2,FMO2 Silent,Silent rs28369912 1 171177939 [A/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Synonymous_G201G,Synonymous_G421G variant.8401 1 171177952 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Nonsense_Q206X,Nonsense_Q426X exm123195 1 171177968 [A/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Missense_N211T,Missense_N431T exm123200 1 171178002 [G/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Missense_E222D,Missense_E442D indel.8402 1 171178075 [D/I] NM_001301347,NM_001460 FMO2,FMO2 EXON exm123207 1 171178090 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Missense_X252Q,Missense_X472Q rs6661174 1 171178090 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Missense_X252Q,Missense_X472Q rs2020869 1 171178152 [A/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Synonymous_K272K,Synonymous_K492K kgp15846601 1 171178231 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Synonymous_L299L,Synonymous_L519L kgp22791288 1 171178265 [T/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Missense_C310F,Missense_C530F rs28369914 1 171178490 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Silent rs28369915 1 171178626 [D/I] NM_001301347,NM_001460 FMO2,FMO2 EXON kgp15870916 1 171178983 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Silent kgp15618109 1 171179238 [A/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Silent rs7512785 1 171179287 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Silent rs7515157 1 171179477 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Silent kgp15657542 1 171179645 [A/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Silent kgp7005320 1 171179670 [C/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Silent kgp11485019 1 171179779 [A/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Silent kgp15487142 1 171179814 [A/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Silent kgp3405821 1 171180071 [A/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Silent kgp8191001 1 171180201 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Silent kgp3634609 1 171180485 [T/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Silent kgp25260897 1 171181284 [G/C] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Silent kgp12267121 1 171181754 [A/G] NM_001301347,NM_001460 FMO2,FMO2 EXON Silent,Silent rs10798271 1 171187987 [T/C] rs12072321 1 171202164 [T/C] rs7551531 1 171214880 [A/G] rs17350523 1 171217445 [T/C] kgp6353310 1 171217691 [A/C] NM_001282693,NM_001282694,NM_002021 FMO1,FMO1,FMO1 EXON Silent,Silent,Silent rs4916191 1 171218287 [A/G] NM_001282693,NM_001282694,NM_002021 FMO1,FMO1,FMO1 Silent,Silent,Silent rs13353034 1 171220811 [T/C] NM_001282693,NM_001282694,NM_002021 FMO1,FMO1,FMO1 Silent,Silent,Silent rs4073692 1 171221917 [A/G] NM_001282693,NM_001282694,NM_002021 FMO1,FMO1,FMO1 Silent,Silent,Silent variant.8403 1 171227358 [T/C] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Synonymous_T44T,Synonymous_T44T,Synonymous_T44T,Synonymous_T48T exm123223 1 171236840 [G/C] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Missense_H97Q,Silent,Missense_H97Q,Missense_H101Q exm2231813 1 171244603 [C/G] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Missense_T147S,Missense_T84S,Missense_T147S,Missense_T151S rs2076320 1 171244759 [A/C] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 Silent,Silent,Silent,Silent rs10912709 1 171249166 [T/C] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 Silent,Silent,Silent,Silent exm2250233 1 171249957 [A/G] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Synonymous_V220V,Synonymous_V157V,Synonymous_V220V,Synonymous_V224V variant.8405 1 171249964 [T/C] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Nonsense_R223X,Nonsense_R160X,Nonsense_R223X,Nonsense_R227X rs16864310 1 171249965 [A/G] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Missense_R223Q,Missense_R160Q,Missense_R223Q,Missense_R227Q rs28360412 1 171249977 [T/C] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Missense_S227L,Missense_S164L,Missense_S227L,Missense_S231L exm123239 1 171250000 [T/C] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Missense_F235L,Missense_F172L,Missense_F235L,Missense_F239L kgp5976211 1 171250044 [T/C] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Synonymous_T249T,Synonymous_T186T,Synonymous_T249T,Synonymous_T253T exm123243 1 171250049 [T/C] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Missense_I251T,Missense_I188T,Missense_I251T,Missense_I255T kgp15528650 1 171250107 [A/C] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Synonymous_G270G,Synonymous_G207G,Synonymous_G270G,Synonymous_G274G kgp15125879 1 171251196 [A/G] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Missense_I303V,Missense_I240V,Missense_I303V,Missense_I307V exm123251 1 171251197 [T/C] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Missense_I303T,Missense_I240T,Missense_I303T,Missense_I307T var_1_171251202 1 171251202 [T/G] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Nonsense_E305X,Nonsense_E242X,Nonsense_E305X,Nonsense_E309X indel.8409 1 171251219 [I/D] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON rs28360419 1 171251253 [A/G] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Missense_I322V,Missense_I259V,Missense_I322V,Missense_I326V rs28360420 1 171251268 [T/C] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Missense_F327L,Missense_F264L,Missense_F327L,Missense_F331L exm123255 1 171251278 [A/G] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Missense_G330E,Missense_G267E,Missense_G330E,Missense_G334E exm123259 1 171251367 [T/C] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Missense_H360Y,Missense_H297Y,Missense_H360Y,Missense_H364Y exm123260 1 171251407 [A/G] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Missense_K373R,Missense_K310R,Missense_K373R,Missense_K377R exm123262 1 171251421 [T/A] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Missense_M378L,Missense_M315L,Missense_M378L,Missense_M382L variant.8411 1 171251460 [T/C] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Nonsense_R391X,Nonsense_R328X,Nonsense_R391X,Nonsense_R395X rs7517376 1 171252287 [A/G] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Synonymous_V396V,Synonymous_V333V,Synonymous_V396V,Synonymous_V400V indel.8412 1 171254405 [D/I] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON exm123271 1 171254471 [A/G] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Missense_V463I,Missense_V400I,Missense_V463I,Missense_V467I rs28360432 1 171254485 [A/G] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Synonymous_P467P,Synonymous_P404P,Synonymous_P467P,Synonymous_P471P exm123275 1 171254588 [T/C] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Nonsense_R502X,Nonsense_R439X,Nonsense_R502X,Nonsense_R506X newrs60639054 1 171254588 [T/C] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Nonsense_R502X,Nonsense_R439X,Nonsense_R502X,Nonsense_R506X kgp22768118 1 171254671 [T/G] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Synonymous_L529L,Synonymous_L466L,Synonymous_L529L,Synonymous_L533L kgp15417586 1 171254780 [T/G] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Silent,Silent,Silent,Silent rs12954 1 171254794 [T/C] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Silent,Silent,Silent,Silent rs28360434 1 171254804 [A/G] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Silent,Silent,Silent,Silent kgp15529279 1 171254816 [A/G] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Silent,Silent,Silent,Silent rs7877 1 171254890 [T/C] NM_001282693,NM_001282694,NM_002021,NM_001282692 FMO1,FMO1,FMO1,FMO1 EXON Silent,Silent,Silent,Silent rs10912723 1 171258131 [T/C] exm-rs6660565 1 171261193 [A/G] rs12747080 1 171275804 [A/C] rs6699241 1 171282759 [A/G] kgp15790355 1 171285356 [A/G] NM_002022 FMO4 EXON Silent kgp24961317 1 171285439 [T/C] NM_002022 FMO4 EXON Silent exm123284 1 171289074 [T/C] NM_002022 FMO4 EXON Missense_I37T indel.8415 1 171292176 [I/D] NM_002022 FMO4 EXON exm2231814 1 171293301 [T/C] NM_002022 FMO4 EXON Missense_R116C rs16864392 1 171294384 [T/A] NM_002022 FMO4 Silent rs16864395 1 171294681 [T/C] NM_002022 FMO4 Silent exm123303 1 171300853 [A/G] NM_002022 FMO4 EXON Missense_V187I variant.8417 1 171300907 [T/C] NM_002022 FMO4 EXON Nonsense_R205X exm123305 1 171300908 [A/G] NM_002022 FMO4 EXON Missense_R205Q rs12044691 1 171301303 [A/G] NM_002022 FMO4 Silent exm123310 1 171301882 [T/A] NM_002022 FMO4 EXON Missense_L221H exm123313 1 171301888 [A/G] NM_002022 FMO4 EXON Missense_R223H exm123314 1 171301954 [A/G] NM_002022 FMO4 EXON Missense_Q245R exm1734667 1 171301968 [T/C] NM_002022 FMO4 EXON Missense_R250C indel.8418 1 171301990 [I/D] NM_002022 FMO4 EXON rs3737926 1 171303565 [T/C] NM_002022 FMO4 EXON Synonymous_F281F rs3737925 1 171303644 [A/T] NM_002022 FMO4 EXON Missense_T308S kgp24774885 1 171303688 [T/C] NM_002022 FMO4 EXON Synonymous_D322D kgp15488814 1 171303690 [T/C] NM_002022 FMO4 EXON Missense_V323A exm123325 1 171303737 [C/G] NM_002022 FMO4 EXON Missense_E339Q exm123327 1 171303810 [T/C] NM_002022 FMO4 EXON Missense_A363V exm123328 1 171303818 [C/G] NM_002022 FMO4 EXON Missense_A366P kgp25306224 1 171303836 [A/G] NM_002022 FMO4 EXON Missense_G372S variant.8420 1 171303878 [T/C] NM_002022 FMO4 EXON Nonsense_R386X kgp25047116 1 171308077 [T/C] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp15514302 1 171308127 [A/C] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp25179608 1 171308234 [T/C] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp15532970 1 171308239 [T/C] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp25316732 1 171308388 [T/C] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp15444435 1 171308469 [A/G] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp24878150 1 171308666 [A/G] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent rs2223477 1 171308832 [A/G] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp15233334 1 171308881 [A/T] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp15163969 1 171308897 [A/T] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp15549120 1 171309050 [A/G] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp15870487 1 171309222 [T/C] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp15790715 1 171309310 [T/C] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent exm123337 1 171310562 [A/C] NM_002022 FMO4 EXON Missense_K421Q exm123348 1 171310775 [A/G] NM_002022 FMO4 EXON Missense_R492G var_1_171310791 1 171310792 [I/D] NM_002022 FMO4 EXON newrs145740321 1 171310799 [T/C] NM_002022 FMO4 EXON Nonsense_R500X exm123352 1 171310844 [T/G] NM_002022 FMO4 EXON Missense_L515V variant.8423 1 171310855 [A/G] NM_002022 FMO4 EXON Nonsense_W518X exm123354 1 171310901 [T/C] NM_002022 FMO4 EXON Missense_S534P variant.8424 1 171310970 [T/C] NM_002022 FMO4 EXON Nonsense_R557X kgp15360711 1 171311154 [T/C] NM_002022 FMO4 EXON Silent rs2235510 1 171314142 [T/C] rs1963273 1 171322446 [T/C] rs6670432 1 171324017 [A/G] rs1018392 1 171353864 [T/C] rs7515001 1 171356755 [A/G] rs4916375 1 171362841 [T/C] rs2421809 1 171371998 [A/G] rs2207188 1 171379002 [A/G] rs2207189 1 171388916 [T/C] rs7519763 1 171389475 [T/C] rs2143934 1 171393060 [A/G] rs7540116 1 171393787 [T/C] rs4579793 1 171394212 [T/C] rs6682065 1 171397553 [T/C] rs10912993 1 171404591 [T/C] rs2207190 1 171415856 [A/G] rs10913039 1 171417202 [T/C] rs6670505 1 171426448 [A/C] rs10798416 1 171429273 [A/G] rs10489247 1 171434331 [T/G] rs7544906 1 171435477 [A/G] rs4916388 1 171463300 [T/C] NM_015172 PRRC2C Silent rs12403390 1 171464420 [A/G] NM_015172 PRRC2C Silent rs4384265 1 171478523 [A/G] NM_015172 PRRC2C Silent variant.8425 1 171484998 [A/G] NM_015172 PRRC2C EXON Missense_N174D rs10913157 1 171486912 [A/G] NM_015172 PRRC2C EXON Missense_A235T exm123379 1 171486912 [A/G] NM_015172 PRRC2C EXON Missense_A235T exm123380 1 171486939 [A/G] NM_015172 PRRC2C EXON Missense_M244V exm123388 1 171492641 [C/G] NM_015172 PRRC2C EXON Missense_N343K exm123395 1 171496928 [A/G] NM_015172 PRRC2C Silent exm123405 1 171501752 [A/G] NM_015172 PRRC2C EXON Missense_R507G exm123411 1 171504600 [A/G] NM_015172 PRRC2C EXON Missense_N634S exm123421 1 171505321 [A/G] NM_015172 PRRC2C EXON Missense_M731V exm123426 1 171506404 [A/G] NM_015172 PRRC2C EXON Missense_M764V exm123430 1 171506506 [A/G] NM_015172 PRRC2C EXON Missense_I798V rs760644 1 171509327 [A/G] NM_015172 PRRC2C EXON Missense_A906T exm123440 1 171509327 [A/G] NM_015172 PRRC2C EXON Missense_A906T exm123443 1 171509373 [A/G] NM_015172 PRRC2C EXON Missense_R921Q exm123444 1 171509414 [C/G] NM_015172 PRRC2C EXON Missense_P935A exm123445 1 171509415 [T/C] NM_015172 PRRC2C EXON Missense_P935L exm123446 1 171509454 [A/G] NM_015172 PRRC2C EXON Missense_K948R exm123447 1 171509486 [T/C] NM_015172 PRRC2C EXON Missense_P959S exm123454 1 171509732 [A/G] NM_015172 PRRC2C EXON Missense_K1041E exm123467 1 171510055 [A/G] NM_015172 PRRC2C EXON Missense_I1148M exm123478 1 171510363 [A/T] NM_015172 PRRC2C EXON Missense_F1251Y exm123484 1 171510590 [A/G] NM_015172 PRRC2C EXON Missense_D1327N exm123485 1 171510660 [A/G] NM_015172 PRRC2C EXON Missense_R1350H exm123487 1 171510692 [T/C] NM_015172 PRRC2C EXON Missense_R1361C exm123488 1 171510693 [C/G] NM_015172 PRRC2C EXON Missense_R1361P exm123489 1 171510707 [C/G] NM_015172 PRRC2C EXON Missense_R1366G exm123498 1 171511025 [G/C] NM_015172 PRRC2C EXON Missense_L1472V exm123502 1 171511139 [G/C] NM_015172 PRRC2C EXON Missense_E1510Q rs2272810 1 171511442 [A/G] NM_015172 PRRC2C Silent exm123515 1 171514764 [T/G] NM_015172 PRRC2C EXON Missense_G1635V rs235470 1 171519487 [A/C] NM_015172 PRRC2C Silent exm123521 1 171526416 [A/G] NM_015172 PRRC2C EXON Missense_S1720N exm123546 1 171526910 [A/G] NM_015172 PRRC2C EXON Missense_A1885T exm123553 1 171527129 [A/G] NM_015172 PRRC2C EXON Missense_I1958V exm123555 1 171527237 [A/G] NM_015172 PRRC2C EXON Missense_N1994D exm123569 1 171535926 [A/G] NM_015172 PRRC2C EXON Missense_T2166A exm123572 1 171537387 [T/A] NM_015172 PRRC2C EXON Missense_E2185V exm123583 1 171544199 [A/G] NM_015172 PRRC2C EXON Missense_N2294S rs764206 1 171545051 [A/G] NM_015172 PRRC2C Silent exm123597 1 171553210 [A/G] NM_015172 PRRC2C EXON Missense_G2507S exm123602 1 171553625 [A/G] NM_015172 PRRC2C EXON Missense_N2568S exm123607 1 171556322 [T/G] NM_015172 PRRC2C EXON Missense_A2642S exm123611 1 171556829 [A/G] NM_015172 PRRC2C EXON Missense_I2669V exm123622 1 171557600 [A/G] NM_015172 PRRC2C EXON Missense_T2717A rs171005 1 171576573 [T/G] rs235864 1 171588583 [T/C] rs235852 1 171591818 [T/C] rs235853 1 171592553 [A/G] rs235854 1 171592869 [A/C] rs6425356 1 171597996 [T/C] rs235881 1 171603547 [T/C] exm123635 1 171605081 [T/C] NM_000261 MYOC EXON Missense_K500R indel.8434 1 171605118 [I/D] NM_000261 MYOC EXON variant.8435 1 171605168 [T/C] NM_000261 MYOC EXON Missense_Y471C indel.8436 1 171605223 [I/D] NM_000261 MYOC EXON exm123639 1 171605246 [A/G] NM_000261 MYOC EXON Missense_A445V exm1734781 1 171605522 [A/G] NM_000261 MYOC EXON Missense_T353I exm123650 1 171605526 [T/C] NM_000261 MYOC EXON Missense_E352K variant.8440 1 171605642 [A/G] NM_000261 MYOC EXON Missense_S313F exm123658 1 171605673 [T/G] NM_000261 MYOC EXON Missense_L303I variant.8441 1 171605682 [T/C] NM_000261 MYOC EXON Missense_E300K exm123662 1 171605702 [T/G] NM_000261 MYOC EXON Missense_T293K variant.8443 1 171605766 [A/G] NM_000261 MYOC EXON Nonsense_R272X variant.8444 1 171605770 [T/C] NM_000261 MYOC EXON Nonsense_W270X exm123667 1 171605813 [A/G] NM_000261 MYOC EXON Missense_T256M exm123671 1 171607833 [A/C] NM_000261 MYOC EXON Missense_F212V exm123672 1 171607843 [C/G] NM_000261 MYOC EXON Missense_D208E rs604864 1 171608466 [T/C] NM_000261 MYOC Silent rs2236875 1 171614683 [T/G] NM_000261 MYOC Silent rs235913 1 171618656 [T/G] NM_000261 MYOC Silent variant.8446 1 171621279 [T/C] NM_000261 MYOC EXON Missense_R158Q exm123679 1 171621297 [A/G] NM_000261 MYOC EXON Missense_L152P exm123680 1 171621312 [T/C] NM_000261 MYOC EXON Missense_R147Q variant.8447 1 171621313 [A/G] NM_000261 MYOC EXON Nonsense_R147X exm123682 1 171621375 [T/C] NM_000261 MYOC EXON Missense_R126Q exm123683 1 171621376 [A/G] NM_000261 MYOC EXON Missense_R126W exm123690 1 171621507 [T/C] NM_000261 MYOC EXON Missense_R82H exm1734797 1 171621616 [A/G] NM_000261 MYOC EXON Nonsense_R46X exm2231819 1 171621695 [A/C] NM_000261 MYOC EXON Missense_Q19H exm1734798 1 171621718 [G/C] NM_000261 MYOC EXON Missense_G12R rs11799938 1 171640888 [A/C] rs10913482 1 171652583 [T/C] rs9661596 1 171652664 [A/G] rs9943293 1 171654968 [T/C] rs236894 1 171669823 [A/G] NM_003762,NR_033704,NM_001185127 VAMP4,VAMP4,VAMP4 EXON Silent,Silent,Silent rs6685742 1 171674774 [A/G] NM_003762,NR_033704,NM_001185127 VAMP4,VAMP4,VAMP4 Silent,Silent,Silent exm123706 1 171678827 [T/C] NM_003762,NR_033704,NM_001185127 VAMP4,VAMP4,VAMP4 EXON Missense_Q108R,Silent,Missense_Q107R rs1001373 1 171684506 [A/G] NM_003762,NR_033704,NM_001185127 VAMP4,VAMP4,VAMP4 Silent,Silent,Silent exm1734815 1 171688351 [A/G] NM_003762,NR_033704,NM_001185127 VAMP4,VAMP4,VAMP4 EXON Missense_S42P,Silent,Missense_S41P exm123713 1 171707490 [G/C] NM_003762,NR_033704,NM_001185127 VAMP4,VAMP4,VAMP4 EXON Missense_R22T,Silent,Missense_R22T rs17649050 1 171713808 [C/G] rs6665581 1 171721146 [T/C] rs10157510 1 171722990 [T/C] rs7545663 1 171731932 [T/G] rs10913625 1 171732378 [T/G] rs12032340 1 171735198 [A/C] rs2232807 1 171750095 [T/C] rs2294719 1 171751051 [A/G] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Silent,Silent,Silent variant.8457 1 171751265 [A/G] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 Silent,Silent,Silent exm123727 1 171753039 [A/G] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Missense_M105V,Missense_M19V,Missense_M105V rs2232816 1 171753039 [A/G] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Missense_M105V,Missense_M19V,Missense_M105V exm123732 1 171753241 [A/G] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Silent,Missense_G86D,Missense_G172D newrs150322704 1 171753321 [T/C] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Silent,Nonsense_Q113X,Nonsense_Q199X exm1734943 1 171753456 [A/G] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Silent,Missense_E158K,Missense_E244K variant.8462 1 171753594 [T/C] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Silent,Missense_P204S,Missense_P290S exm123755 1 171753612 [T/C] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Silent,Missense_R210W,Missense_R296W variant.8463 1 171753639 [A/G] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Silent,Missense_I219V,Missense_I305V exm123761 1 171755071 [A/G] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Synonymous_K166K,Synonymous_K236K,Synonymous_K322K exm2250237 1 171755071 [A/G] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Synonymous_K166K,Synonymous_K236K,Synonymous_K322K rs2232818 1 171755170 [A/G] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Synonymous_S199S,Synonymous_S269S,Synonymous_S355S exm123765 1 171755180 [T/A] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Missense_M203L,Missense_M273L,Missense_M359L exm123766 1 171755182 [A/G] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Missense_M203I,Missense_M273I,Missense_M359I exm123767 1 171755199 [G/C] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Missense_G209A,Missense_G279A,Missense_G365A exm123773 1 171756954 [A/G] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Missense_Y242C,Missense_Y312C,Missense_Y398C exm123782 1 171759627 [T/C] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Missense_R293W,Missense_R363W,Missense_R449W exm123786 1 171761155 [A/G] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 Silent,Silent,Silent indel.8468 1 171763551 [I/D] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON exm123799 1 171763595 [A/C] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Missense_M429L,Missense_M499L,Missense_M585L exm123802 1 171763662 [A/C] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Missense_P451H,Missense_P521H,Missense_P607H exm123804 1 171765628 [T/C] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Missense_F455S,Missense_F525S,Missense_F611S rs1801898 1 171765964 [A/G] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Silent,Silent,Silent rs12140193 1 171766580 [T/G] NM_001007239,NM_014955,NM_015935 METTL13,METTL13,METTL13 EXON Silent,Silent,Silent rs6700184 1 171781952 [T/C] rs2206542 1 171788782 [A/G] rs6425438 1 171791211 [T/C] rs10753195 1 171797731 [T/G] exm2250238 1 171805322 [A/G] rs2294723 1 171808405 [A/C] rs6701033 1 171809976 [T/C] rs10798722 1 171829164 [T/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2901600 1 171835654 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2206544 1 171842607 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12025368 1 171847295 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4916239 1 171870596 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6425479 1 171881168 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2901603 1 171885747 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6673009 1 171901805 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12084926 1 171903833 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12028426 1 171927696 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12025243 1 171932737 [T/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10914127 1 171943948 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.8470 1 171956945 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 EXON Missense_V129M,Missense_V129M,Silent,Missense_V129M,Missense_V129M,Missense_V129M,Missense_V129M rs10910863 1 171960993 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1073940 1 171977284 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm123838 1 172002280 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 EXON Missense_I242V,Missense_I242V,Silent,Missense_I242V,Missense_I242V,Missense_I242V,Missense_I242V rs9286842 1 172004114 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10910945 1 172004280 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.8472 1 172007601 [A/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 EXON Missense_Q331P,Missense_Q331P,Silent,Missense_Q331P,Missense_Q331P,Missense_Q331P,Missense_Q331P var_1_172013549 1 172013549 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 EXON Nonsense_R385X,Nonsense_R385X,Silent,Nonsense_R385X,Nonsense_R385X,Nonsense_R385X,Nonsense_R385X var_1_172013597 1 172013597 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2057302 1 172018734 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12091015 1 172019718 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16843795 1 172040583 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs17346452 1 172053287 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.8475 1 172062870 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4075021 1 172063516 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17350579 1 172066592 [T/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs733190 1 172095226 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10489299 1 172101666 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204,NM_001278252,NM_001350205 DNM3,DNM3,DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12120556 1 172115154 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs10911112 1 172118780 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs1475230 1 172128536 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs17361886 1 172137019 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs672740 1 172137119 [T/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs551742 1 172137526 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs515060 1 172153224 [T/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs583578 1 172156886 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs598562 1 172164499 [T/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs633995 1 172186729 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs678962 1 172189889 [T/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent exm-rs678962 1 172189889 [T/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs479336 1 172199573 [T/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs481154 1 172199762 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent exm2265057 1 172206026 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs12082431 1 172234627 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs2421992 1 172241251 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs2586393 1 172256116 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs2757489 1 172264193 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs2757493 1 172267419 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs10752932 1 172267554 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs2757502 1 172281341 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs9425287 1 172296601 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent variant.8477 1 172308193 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs9425291 1 172312769 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs1894633 1 172331059 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent exm-rs1011731 1 172346548 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent newrs139523475 1 172348322 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 EXON Synonymous_N686N,Synonymous_N692N,Silent,Synonymous_N682N,Synonymous_N692N rs1023479 1 172355132 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent exm123895 1 172356367 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 EXON Missense_R718H,Missense_R724H,Silent,Missense_R714H,Missense_R724H rs6424894 1 172365330 [A/G] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs1029319 1 172371707 [T/C] NM_015569,NM_001350206,NR_146559,NM_001136127,NM_001350204 DNM3,DNM3,DNM3,DNM3,DNM3 Silent,Silent,Silent,Silent,Silent rs2422139 1 172390896 [A/G] NM_139240 C1orf105 Silent rs1063412 1 172410967 [A/G] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON Silent,Missense_P266S,Missense_P266S exm123917 1 172410967 [A/G] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON Silent,Missense_P266S,Missense_P266S exm123930 1 172411318 [T/C] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON Silent,Missense_I149V,Missense_I149V exm123933 1 172411374 [A/G] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON Silent,Missense_T130I,Missense_T130I exm123936 1 172411455 [A/G] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON Silent,Missense_I103T,Missense_I103T indel.8480 1 172411457 [D/I] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON 1KG_1_172411495 1 172411495 [I/D] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON exm123940 1 172411516 [A/G] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON Silent,Missense_H83Y,Missense_H83Y exm1735421 1 172411518 [A/G] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON Silent,Missense_P82L,Missense_P82L indel.8481 1 172411570 [D/I] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON exm123945 1 172411702 [A/G] NM_139240,NM_153747,NM_002642 C1orf105,PIGC,PIGC EXON Silent,Nonsense_R21X,Nonsense_R21X exm123948 1 172414269 [A/C] NM_139240 C1orf105 EXON Missense_N26K variant.8483 1 172414300 [T/G] NM_139240 C1orf105 Silent variant.8484 1 172414303 [T/C] NM_139240 C1orf105 Silent exm2231826 1 172417598 [T/C] NM_139240 C1orf105 EXON Missense_A42V rs2269613 1 172419651 [T/G] NM_139240 C1orf105 Silent rs6691993 1 172426998 [T/G] NM_139240,NM_001300760 C1orf105,C1orf105 Silent,Silent exm123964 1 172431337 [A/G] NM_139240,NM_001300760 C1orf105,C1orf105 EXON Missense_K98R,Missense_K88R exm123967 1 172431386 [A/G] NM_139240,NM_001300760 C1orf105,C1orf105 Silent,Silent exm123969 1 172434450 [A/C] NM_139240,NM_001300760 C1orf105,C1orf105 EXON Missense_H118P,Missense_H108P exm2268784 1 172434812 [T/C] NM_139240,NM_001300760 C1orf105,C1orf105 Silent,Silent rs4244193 1 172435451 [A/C] NM_139240,NM_001300760 C1orf105,C1orf105 Silent,Silent rs9425329 1 172435851 [T/C] NM_139240,NM_001300760 C1orf105,C1orf105 Silent,Silent exm123971 1 172437592 [A/G] NM_139240,NM_001300760 C1orf105,C1orf105 EXON Missense_S137N,Missense_S127N indel.8487 1 172437692 [D/I] NM_139240,NM_001300760 C1orf105,C1orf105 EXON rs7551242 1 172445883 [A/G] rs6695139 1 172447498 [T/C] rs4916263 1 172450689 [T/G] rs985320 1 172456372 [T/C] rs16844612 1 172459678 [T/C] rs6424956 1 172469707 [A/G] rs10489279 1 172498216 [A/G] rs4338394 1 172501000 [T/G] 1KG_1_172501716 1 172501716 [D/I] NM_016227 SUCO EXON indel.8488 1 172501717 [D/I] NM_016227 SUCO EXON indel.8489 1 172501824 [D/I] NM_016227 SUCO EXON rs12758548 1 172518896 [T/C] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO Silent,Silent,Silent,Silent exm124001 1 172520692 [A/G] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO EXON Missense_A230T,Missense_A35T,Silent,Missense_A35T variant.8494 1 172522399 [A/G] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO Silent,Silent,Silent,Silent exm124010 1 172525037 [T/C] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO EXON Missense_P264L,Missense_P106L,Silent,Missense_P69L exm124025 1 172526875 [A/G] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO EXON Missense_E383K,Missense_E225K,Silent,Missense_E188K exm124026 1 172526879 [A/G] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO EXON Missense_Q384R,Missense_Q226R,Silent,Missense_Q189R rs10911920 1 172530687 [T/C] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO Silent,Silent,Silent,Silent exm124043 1 172544716 [A/G] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO EXON Missense_V564I,Missense_V406I,Silent,Missense_V369I exm124053 1 172548342 [A/G] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO EXON Missense_D629G,Missense_D478G,Silent,Missense_D441G exm124054 1 172548377 [T/C] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO EXON Missense_S641P,Missense_S490P,Silent,Missense_S453P exm124064 1 172558060 [A/C] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO EXON Missense_P758T,Missense_P607T,Missense_P44T,Missense_P570T exm124068 1 172558187 [A/G] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO EXON Missense_R800Q,Missense_R649Q,Missense_R86Q,Silent exm124071 1 172558244 [T/C] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO EXON Missense_L819P,Missense_L668P,Missense_L105P,Silent indel.8496 1 172558329 [D/I] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO EXON exm124082 1 172558594 [A/G] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO EXON Missense_S936G,Missense_S785G,Missense_S222G,Silent rs3738736 1 172559323 [A/G] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO Silent,Silent,Silent,Silent indel.8497 1 172571235 [I/D] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO EXON exm124110 1 172571866 [C/G] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO EXON Missense_L1219F,Missense_L1068F,Missense_L505F,Missense_L697F var_1_172577943 1 172577943 [A/G] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO Silent,Silent,Silent,Silent exm124133 1 172579244 [T/C] NM_016227,NM_014283,NM_001282751,NM_001282750 SUCO,SUCO,SUCO,SUCO EXON Nonsense_R1355X,Nonsense_R1204X,Nonsense_R641X,Nonsense_R833X rs10912080 1 172603411 [A/C] rs730278 1 172603940 [T/C] rs2859228 1 172613241 [A/G] exm2250250 1 172615395 [T/C] rs2021838 1 172621538 [T/G] exm2250251 1 172628449 [A/G] NM_000639,NM_001302746 FASLG,FASLG EXON Synonymous_V36V,Synonymous_V36V exm124156 1 172628621 [T/G] NM_000639,NM_001302746 FASLG,FASLG EXON Missense_L94V,Missense_L94V exm124160 1 172629250 [A/C] NM_000639,NM_001302746 FASLG,FASLG EXON Missense_H122N,Silent newrs80358238 1 172634776 [A/G] NM_000639,NM_001302746 FASLG,FASLG EXON Missense_R156G,Silent rs12135884 1 172638500 [A/G] rs12085277 1 172638660 [A/G] rs859652 1 172654377 [A/G] rs16844897 1 172654762 [T/C] exm2268948 1 172668340 [T/C] rs7553067 1 172674541 [T/C] rs16844937 1 172692120 [T/C] rs859636 1 172711240 [A/G] rs2022168 1 172724394 [A/G] rs859627 1 172728946 [A/G] rs2077690 1 172743727 [A/G] rs859715 1 172760122 [T/A] rs11810332 1 172789765 [A/G] rs12066143 1 172814855 [T/C] exm-rs10218696 1 172823534 [A/G] rs12037781 1 172852118 [A/G] exm-rs7517810 1 172853460 [T/C] rs7517810 1 172853460 [T/C] rs9286879 1 172862234 [A/G] exm-rs9286879 1 172862234 [A/G] rs4916288 1 172884872 [T/G] exm-rs12035082 1 172898377 [T/C] rs12037606 1 172898402 [A/G] rs16845151 1 172903801 [T/C] rs10489272 1 172941713 [A/G] rs2901695 1 172961211 [T/G] rs6697964 1 172962496 [A/G] rs1883478 1 172985231 [T/C] rs12067458 1 173005314 [A/G] rs16845308 1 173009832 [T/G] exm124188 1 173010569 [A/C] NM_005092 TNFSF18 EXON Missense_V180F exm124198 1 173010811 [A/G] NM_005092 TNFSF18 EXON Missense_P99L indel.8505 1 173010813 [I/D] NM_005092 TNFSF18 EXON exm124210 1 173020073 [A/T] NM_005092 TNFSF18 EXON Nonsense_C10X rs12080433 1 173023946 [T/C] rs2422272 1 173049073 [A/G] rs2207061 1 173055352 [A/G] rs16845401 1 173062049 [T/C] rs17372135 1 173094569 [A/G] rs3861948 1 173103273 [T/C] rs6663669 1 173105511 [A/G] rs1234305 1 173117771 [A/G] rs10912551 1 173119967 [T/G] rs7553711 1 173131908 [T/C] rs16845543 1 173153468 [A/G] NM_003326,NM_001297562 TNFSF4,TNFSF4 EXON Silent,Silent exm124218 1 173155860 [T/C] NM_003326,NM_001297562 TNFSF4,TNFSF4 EXON Missense_S116N,Missense_S66N exm124219 1 173155960 [T/C] NM_003326,NM_001297562 TNFSF4,TNFSF4 EXON Missense_D83N,Missense_D33N variant.8507 1 173156006 [T/C] NM_003326,NM_001297562 TNFSF4,TNFSF4 Silent,Silent rs10912561 1 173164565 [T/C] NM_003326,NM_001297562 TNFSF4,TNFSF4 Silent,Silent exm-rs2205960 1 173191475 [T/G] rs844644 1 173209495 [A/C] NR_037845 LOC100506023 Silent rs844648 1 173223863 [A/G] NR_037845 LOC100506023 Silent rs704840 1 173226195 [T/G] NR_037845 LOC100506023 Silent rs10489265 1 173236065 [A/C] NR_037845 LOC100506023 Silent rs1342032 1 173270649 [A/C] NR_037845 LOC100506023 Silent rs6685520 1 173278169 [A/G] NR_037845 LOC100506023 Silent rs10912583 1 173280999 [T/C] NR_037845 LOC100506023 Silent rs7546568 1 173297704 [A/C] NR_037845 LOC100506023 Silent exm-rs1342038 1 173301516 [A/G] NR_037845 LOC100506023 Silent rs10798269 1 173309713 [A/G] NR_037845 LOC100506023 Silent exm-rs10798269 1 173309713 [A/G] NR_037845 LOC100506023 Silent rs17346550 1 173315625 [T/C] NR_037845 LOC100506023 Silent rs6671598 1 173325913 [T/C] NR_037845 LOC100506023 Silent rs4916334 1 173333829 [T/G] NR_037845 LOC100506023 Silent rs16845817 1 173362070 [A/G] NR_037845 LOC100506023 Silent rs16845819 1 173362284 [A/G] NR_037845 LOC100506023 Silent rs1418191 1 173362457 [T/C] NR_037845 LOC100506023 Silent rs4916219 1 173373183 [T/C] NR_037845 LOC100506023 Silent rs7526628 1 173376879 [T/C] NR_037845 LOC100506023 Silent rs10753077 1 173381535 [A/G] NR_037845 LOC100506023 Silent rs10798280 1 173381640 [A/G] NR_037845 LOC100506023 Silent rs6702339 1 173391208 [T/C] NR_037845,NR_125960 LOC100506023,LOC101928673 Silent,Silent exm2264920 1 173408212 [A/G] NR_037845,NR_125960 LOC100506023,LOC101928673 Silent,Silent rs4539167 1 173410444 [A/C] NR_037845,NR_125960 LOC100506023,LOC101928673 Silent,Silent rs10737302 1 173410936 [A/G] NR_037845,NR_125960 LOC100506023,LOC101928673 Silent,Silent rs6656413 1 173414416 [A/G] NR_037845,NR_125960 LOC100506023,LOC101928673 Silent,Silent rs10798282 1 173437024 [T/C] NR_037845 LOC100506023 Silent variant.8508 1 173450614 [A/G] NM_004905 PRDX6 EXON Nonsense_W82X indel.8511 1 173455457 [I/D] NM_004905 PRDX6 EXON exm124258 1 173455511 [T/A] NM_004905 PRDX6 EXON Nonsense_K173X exm124263 1 173456935 [T/C] NM_004905 PRDX6 EXON Missense_P203L rs7314 1 173457599 [A/G] NM_004905 PRDX6 EXON Silent rs7521536 1 173465265 [T/C] exm124274 1 173472465 [A/G] NM_178527 SLC9C2 EXON Missense_A1104V rs1359460 1 173474127 [T/C] NM_178527 SLC9C2 Silent rs10912627 1 173474482 [A/G] NM_178527 SLC9C2 Silent exm124279 1 173475997 [C/G] NM_178527 SLC9C2 EXON Missense_Q1075E indel.8514 1 173476041 [D/I] NM_178527 SLC9C2 EXON exm124289 1 173478829 [T/C] NM_178527 SLC9C2 EXON Missense_I973V rs16846052 1 173478877 [T/G] NM_178527 SLC9C2 Silent exm124294 1 173486716 [T/C] NM_178527 SLC9C2 EXON Missense_R956H exm124309 1 173494019 [T/G] NM_178527 SLC9C2 EXON Missense_K805Q exm124310 1 173494045 [T/C] NM_178527 SLC9C2 EXON Missense_R796H exm124311 1 173494059 [T/C] NM_178527 SLC9C2 EXON Missense_M791I exm124315 1 173495803 [T/A] NM_178527 SLC9C2 EXON Missense_L788F variant.8517 1 173499058 [A/C] NM_178527 SLC9C2 EXON Nonsense_E767X exm2250265 1 173502831 [A/G] NM_178527 SLC9C2 EXON Synonymous_L694L rs1886639 1 173504068 [T/C] NM_178527 SLC9C2 Silent rs1925340 1 173509365 [A/G] NM_178527 SLC9C2 Silent exm124335 1 173516871 [C/G] NM_178527 SLC9C2 EXON Missense_A505G rs10494490 1 173516903 [A/G] NM_178527 SLC9C2 EXON Synonymous_N494N var_1_173517527 1 173517527 [A/C] NM_178527 SLC9C2 Silent rs6425247 1 173517540 [A/G] NM_178527 SLC9C2 EXON Synonymous_I483I exm124343 1 173517547 [A/G] NM_178527 SLC9C2 EXON Missense_T481M exm124349 1 173526484 [T/G] NM_178527 SLC9C2 EXON Missense_Q404K exm124350 1 173526508 [T/C] NM_178527 SLC9C2 EXON Missense_A396T exm124351 1 173526520 [T/C] NM_178527 SLC9C2 EXON Missense_V392I rs12027862 1 173532805 [A/G] NM_178527 SLC9C2 Silent rs12040255 1 173538503 [T/C] NM_178527 SLC9C2 Silent rs10912650 1 173539032 [A/G] NM_178527 SLC9C2 Silent exm1736236 1 173551091 [A/G] NM_178527 SLC9C2 EXON Missense_Y233H exm124365 1 173551133 [T/C] NM_178527 SLC9C2 EXON Missense_I219V exm2250266 1 173552703 [A/G] NM_178527 SLC9C2 EXON Synonymous_I194I exm124375 1 173556912 [T/C] NM_178527 SLC9C2 EXON Missense_V139I rs12081220 1 173567376 [A/G] NM_178527 SLC9C2 Silent exm124387 1 173570818 [A/G] NM_178527 SLC9C2 EXON Missense_T33M variant.8523 1 173570858 [A/G] NM_178527 SLC9C2 EXON Nonsense_Q20X exm2259857 1 173579034 [T/C] NM_198493 ANKRD45 EXON Silent exm124395 1 173594022 [T/C] NM_198493 ANKRD45 EXON Missense_E212K exm124396 1 173594043 [A/G] NM_198493 ANKRD45 EXON Missense_R205C indel.8524 1 173596256 [I/D] NM_198493 ANKRD45 EXON exm124398 1 173596257 [A/T] NM_198493 ANKRD45 EXON Missense_L180I rs12059068 1 173596273 [A/G] NM_198493 ANKRD45 EXON Synonymous_Y174Y rs7539322 1 173615965 [T/C] NM_198493 ANKRD45 Silent exm124406 1 173616057 [A/G] NM_198493 ANKRD45 EXON Missense_R142W exm124407 1 173616096 [G/C] NM_198493 ANKRD45 EXON Missense_L129V rs12075071 1 173616525 [T/C] NM_198493 ANKRD45 Silent exm124417 1 173628509 [T/G] NM_198493 ANKRD45 EXON Missense_Q17K exm124419 1 173628528 [C/G] NM_198493 ANKRD45 EXON Missense_E10D exm124420 1 173628536 [C/G] NM_198493 ANKRD45 EXON Missense_E8Q exm124421 1 173628546 [T/A] NM_198493 ANKRD45 EXON Missense_E4D rs6681766 1 173672799 [A/G] rs10798295 1 173683954 [T/C] rs6413827 1 173686353 [A/G] NM_014458 KLHL20 Silent exm124426 1 173702857 [T/C] NM_014458 KLHL20 EXON Missense_T10I variant.8526 1 173702865 [T/C] NM_014458 KLHL20 EXON Nonsense_R13X variant.8527 1 173702982 [T/C] NM_014458 KLHL20 EXON Nonsense_R52X variant.8528 1 173703024 [T/G] NM_014458 KLHL20 EXON Nonsense_E66X variant.8530 1 173703108 [T/C] NM_014458 KLHL20 EXON Nonsense_R94X variant.8532 1 173720987 [T/G] NM_014458 KLHL20 EXON Nonsense_E228X exm124446 1 173721013 [T/G] NM_014458 KLHL20 EXON Missense_M236I indel.8533 1 173722386 [I/D] NM_014458 KLHL20 EXON exm2250269 1 173722399 [T/C] NM_014458 KLHL20 EXON Synonymous_V268V variant.8534 1 173725108 [T/C] NM_014458 KLHL20 EXON Nonsense_R300X rs1885679 1 173727133 [A/G] NM_014458 KLHL20 Silent variant.8535 1 173735308 [A/G] NM_014458 KLHL20 EXON Nonsense_W392X rs10489893 1 173756803 [A/G] exm124477 1 173772147 [T/C] NM_001171182,NM_001127181,NM_033319 CENPL,CENPL,CENPL EXON Missense_R306H,Missense_R352H,Missense_R306H exm124480 1 173772210 [T/C] NM_001171182,NM_001127181,NM_033319 CENPL,CENPL,CENPL EXON Missense_D285G,Missense_D331G,Missense_D285G exm124485 1 173772298 [T/C] NM_001171182,NM_001127181,NM_033319 CENPL,CENPL,CENPL EXON Missense_I256V,Missense_I302V,Missense_I256V exm124486 1 173772302 [A/G] NM_001171182,NM_001127181,NM_033319 CENPL,CENPL,CENPL EXON Synonymous_F254F,Synonymous_F300F,Synonymous_F254F exm124487 1 173772330 [C/G] NM_001171182,NM_001127181,NM_033319 CENPL,CENPL,CENPL EXON Missense_C245S,Missense_C291S,Missense_C245S exm124494 1 173772580 [A/C] NM_001171182,NM_001127181,NM_033319 CENPL,CENPL,CENPL EXON Missense_F162V,Missense_F208V,Missense_F162V exm124505 1 173776476 [A/T] NM_001171182,NM_001127181,NM_033319 CENPL,CENPL,CENPL EXON Missense_I117F,Missense_I117F,Missense_I117F exm124507 1 173776565 [T/C] NM_001171182,NM_001127181,NM_033319 CENPL,CENPL,CENPL EXON Missense_N87S,Missense_N87S,Missense_N87S exm124510 1 173776652 [T/C] NM_001171182,NM_001127181,NM_033319 CENPL,CENPL,CENPL EXON Missense_D58G,Missense_D58G,Missense_D58G exm124512 1 173780338 [T/C] NM_001171182,NM_001127181,NM_033319 CENPL,CENPL,CENPL EXON Missense_V34I,Missense_V34I,Missense_V34I exm124514 1 173780362 [A/G] NM_001171182,NM_001127181,NM_033319 CENPL,CENPL,CENPL EXON Missense_P26S,Missense_P26S,Missense_P26S exm124520 1 173780421 [A/G] NM_001171182,NM_001127181,NM_033319 CENPL,CENPL,CENPL EXON Missense_A6V,Missense_A6V,Missense_A6V rs12096832 1 173789507 [A/G] NM_001171182,NM_001127181,NM_033319 CENPL,CENPL,CENPL Silent,Silent,Silent exm124527 1 173794458 [A/G] NM_018122 DARS2 EXON Missense_R31G exm124533 1 173795885 [A/G] NM_018122 DARS2 EXON Missense_G63D rs2068871 1 173796169 [A/G] NM_018122 DARS2 Silent exm124536 1 173797503 [A/G] NM_018122 DARS2 EXON Missense_D87G variant.8538 1 173797542 [T/C] NM_018122 DARS2 Silent exm124541 1 173799877 [A/G] NM_018122 DARS2 EXON Missense_R125H variant.8539 1 173799901 [T/C] NM_018122 DARS2 Silent newrs121918208 1 173800731 [T/G] NM_018122 DARS2 EXON Missense_C152F exm124545 1 173800731 [T/G] NM_018122 DARS2 EXON Missense_C152F exm124550 1 173800770 [T/C] NM_018122 DARS2 Silent newrs121918210 1 173802557 [A/G] NM_018122 DARS2 EXON Missense_R179H exm1736460 1 173802601 [A/G] NM_018122 DARS2 EXON Missense_V194I exm124557 1 173802608 [A/G] NM_018122 DARS2 EXON Missense_K196R variant.8543 1 173803658 [T/G] NM_018122 DARS2 Silent variant.8544 1 173803662 [A/G] NM_018122 DARS2 Silent newrs113699624 1 173806189 [A/G] NM_018122 DARS2 Silent newrs149035108 1 173807353 [T/C] NM_018122 DARS2 EXON Nonsense_R266X exm124567 1 173808677 [A/G] NM_018122 DARS2 EXON Missense_G338E exm124568 1 173810011 [A/G] NM_018122 DARS2 EXON Missense_D343G variant.8552 1 173823043 [T/G] NM_018122 DARS2 EXON Missense_K558N variant.8553 1 173826791 [A/G] NM_018122 DARS2 EXON Missense_Y629C variant.8554 1 173826799 [T/C] NM_018122 DARS2 EXON Nonsense_R632X exm124612 1 173839374 [G/C] NM_001346115,NM_032522,NM_001122770 ZBTB37,ZBTB37,ZBTB37 EXON Missense_G4A,Missense_G4A,Missense_G4A exm124626 1 173839830 [C/G] NM_001346115,NM_032522,NM_001122770 ZBTB37,ZBTB37,ZBTB37 EXON Missense_T156R,Missense_T156R,Missense_T156R exm124629 1 173839884 [A/G] NM_001346115,NM_032522,NM_001122770 ZBTB37,ZBTB37,ZBTB37 EXON Missense_R174Q,Missense_R174Q,Missense_R174Q exm124645 1 173840253 [A/G] NM_001346115,NM_032522,NM_001122770 ZBTB37,ZBTB37,ZBTB37 EXON Missense_K297R,Missense_K297R,Missense_K297R exm124649 1 173842630 [A/C] NM_001346115,NM_032522,NM_001122770 ZBTB37,ZBTB37,ZBTB37 EXON Silent,Missense_P317T,Missense_P317T exm2250272 1 173842668 [T/C] NM_001346115,NM_032522,NM_001122770 ZBTB37,ZBTB37,ZBTB37 EXON Silent,Synonymous_P329P,Synonymous_P329P exm124651 1 173842735 [A/G] NM_001346115,NM_032522,NM_001122770 ZBTB37,ZBTB37,ZBTB37 EXON Silent,Missense_V352M,Silent rs4652328 1 173863499 [T/C] newrs121909568 1 173873166 [A/G] NM_000488 SERPINC1 EXON Missense_A419V exm124665 1 173873176 [A/C] NM_000488 SERPINC1 EXON Missense_A416S newrs121909559 1 173873176 [A/C] NM_000488 SERPINC1 EXON Missense_A416S variant.8561 1 173876588 [T/C] NM_000488 SERPINC1 EXON Synonymous_E406E exm124668 1 173876634 [T/C] NM_000488 SERPINC1 EXON Missense_R391Q exm124671 1 173878720 [T/G] NM_000488 SERPINC1 EXON Missense_L375M exm124696 1 173881122 [T/C] NM_000488 SERPINC1 EXON Missense_T147A exm124701 1 173881134 [T/C] NM_000488 SERPINC1 EXON Missense_I143V exm124709 1 173883788 [A/T] NM_000488 SERPINC1 EXON Missense_D104V exm124711 1 173883863 [T/C] NM_000488 SERPINC1 EXON Missense_R79H newrs121909553 1 173883864 [A/G] NM_000488 SERPINC1 EXON Missense_R79C exm124712 1 173883881 [A/G] NM_000488 SERPINC1 EXON Missense_P73L exm124717 1 173884010 [A/T] NM_000488 SERPINC1 EXON Missense_V30E rs2227592 1 173885712 [T/C] NM_000488 SERPINC1 Silent rs9425775 1 173893018 [A/G] rs767053 1 173903737 [A/G] NM_001300850,NM_001300851,NM_001300852,NM_172071 RC3H1,RC3H1,RC3H1,RC3H1 EXON Silent,Silent,Silent,Silent exm124736 1 173912593 [T/C] NM_001300850,NM_001300851,NM_001300852,NM_172071 RC3H1,RC3H1,RC3H1,RC3H1 EXON Missense_R1041Q,Missense_R1032Q,Missense_R1032Q,Missense_R1041Q exm124747 1 173915909 [G/C] NM_001300850,NM_001300851,NM_001300852,NM_172071 RC3H1,RC3H1,RC3H1,RC3H1 EXON Missense_P935A,Missense_P935A,Missense_P935A,Missense_P935A exm124748 1 173915951 [T/C] NM_001300850,NM_001300851,NM_001300852,NM_172071 RC3H1,RC3H1,RC3H1,RC3H1 EXON Missense_G921S,Missense_G921S,Missense_G921S,Missense_G921S exm2250275 1 173916589 [A/G] NM_001300850,NM_001300851,NM_001300852,NM_172071 RC3H1,RC3H1,RC3H1,RC3H1 EXON Synonymous_T885T,Synonymous_T885T,Synonymous_T885T,Synonymous_T885T exm124756 1 173916689 [T/C] NM_001300850,NM_001300851,NM_001300852,NM_172071 RC3H1,RC3H1,RC3H1,RC3H1 EXON Missense_R852Q,Missense_R852Q,Missense_R852Q,Missense_R852Q rs7413166 1 173929735 [A/G] NM_001300850,NM_001300851,NM_001300852,NM_172071 RC3H1,RC3H1,RC3H1,RC3H1 Silent,Silent,Silent,Silent exm124767 1 173930910 [A/G] NM_001300850,NM_001300851,NM_001300852,NM_172071 RC3H1,RC3H1,RC3H1,RC3H1 EXON Missense_Y719H,Missense_Y719H,Missense_Y719H,Missense_Y719H exm124769 1 173930928 [C/G] NM_001300850,NM_001300851,NM_001300852,NM_172071 RC3H1,RC3H1,RC3H1,RC3H1 EXON Missense_Q713E,Missense_Q713E,Missense_Q713E,Missense_Q713E exm124770 1 173930949 [A/G] NM_001300850,NM_001300851,NM_001300852,NM_172071 RC3H1,RC3H1,RC3H1,RC3H1 EXON Missense_P706S,Missense_P706S,Missense_P706S,Missense_P706S exm124818 1 173952711 [A/G] NM_001300850,NM_001300851,NM_001300852,NM_172071 RC3H1,RC3H1,RC3H1,RC3H1 EXON Missense_V146A,Missense_V146A,Missense_V146A,Missense_V146A rs6677446 1 173960082 [T/C] NM_001300850,NM_001300851,NM_001300852,NM_172071 RC3H1,RC3H1,RC3H1,RC3H1 Silent,Silent,Silent,Silent exm2265058 1 173987798 [A/G] kgp8044790 1 173989219 [T/C] rs16846667 1 174040594 [T/C] rs6695327 1 174061844 [A/C] exm2264921 1 174104743 [A/G] NR_121197 LOC102724601 Silent rs6681627 1 174126742 [A/C] NR_121197 LOC102724601 Silent exm124832 1 174188338 [G/C] NM_014857 RABGAP1L EXON Missense_D15H exm124837 1 174190170 [A/G] NM_014857 RABGAP1L EXON Missense_E67K rs10489254 1 174197801 [T/C] NM_014857 RABGAP1L Silent newrs144178040 1 174200324 [T/G] NM_014857 RABGAP1L EXON Nonsense_E125X rs7535987 1 174209978 [T/C] NM_014857 RABGAP1L Silent variant.8569 1 174210631 [T/C] NM_014857 RABGAP1L EXON Nonsense_Q185X exm2250277 1 174210684 [T/C] NM_014857 RABGAP1L EXON Synonymous_C202C exm124855 1 174210684 [T/C] NM_014857 RABGAP1L EXON Synonymous_C202C exm124867 1 174219724 [A/G] NM_014857 RABGAP1L EXON Missense_S277G exm124868 1 174219725 [T/G] NM_014857 RABGAP1L EXON Missense_S277I exm124871 1 174219748 [A/G] NM_014857 RABGAP1L EXON Missense_D285N rs12072050 1 174238786 [T/C] NM_014857 RABGAP1L Silent exm124876 1 174245032 [A/G] NM_014857 RABGAP1L EXON Missense_N372S rs6670617 1 174246712 [A/C] NM_014857 RABGAP1L Silent rs6697959 1 174254588 [T/C] NM_014857 RABGAP1L Silent exm1736806 1 174274224 [A/G] NM_014857 RABGAP1L EXON Missense_G475E kgp2139778 1 174274349 [T/G] NM_014857 RABGAP1L Silent kgp9267458 1 174275765 [T/C] NM_014857 RABGAP1L Silent rs6684688 1 174326318 [T/C] NM_014857 RABGAP1L Silent rs10912773 1 174343705 [A/G] NM_014857 RABGAP1L Silent exm124896 1 174363257 [A/G] NM_014857 RABGAP1L EXON Missense_D562N rs17373189 1 174369767 [A/G] NM_014857 RABGAP1L Silent rs12565430 1 174400537 [A/G] NM_014857 RABGAP1L Silent rs12722765 1 174402707 [A/G] NM_014857 RABGAP1L Silent exm124911 1 174417616 [T/G] NM_014857,NM_005684 RABGAP1L,GPR52 EXON Silent,Missense_V123F indel.8572 1 174417682 [I/D] NM_014857,NM_005684 RABGAP1L,GPR52 EXON exm124924 1 174418031 [A/G] NM_014857,NM_005684 RABGAP1L,GPR52 EXON Silent,Missense_R261H exm2231878 1 174418138 [A/G] NM_014857,NM_005684 RABGAP1L,GPR52 EXON Silent,Missense_T297A exm124935 1 174418312 [T/C] NM_014857,NM_005684 RABGAP1L,GPR52 EXON Silent,Missense_R355W rs10489259 1 174425627 [A/G] NM_014857 RABGAP1L Silent rs12059051 1 174438115 [A/G] NM_014857 RABGAP1L Silent rs10912792 1 174450715 [T/C] NM_014857 RABGAP1L Silent rs7547843 1 174507529 [A/G] NM_014857 RABGAP1L Silent rs17838246 1 174532746 [A/G] NM_014857 RABGAP1L Silent rs6691118 1 174546936 [A/G] NM_014857 RABGAP1L Silent rs6664864 1 174592050 [A/G] NM_014857 RABGAP1L Silent rs16847271 1 174605170 [T/G] NM_014857 RABGAP1L Silent rs3123641 1 174611708 [A/G] NM_014857 RABGAP1L Silent rs392368 1 174612899 [T/C] NM_014857 RABGAP1L Silent kgp3671868 1 174613295 [T/C] NM_014857 RABGAP1L Silent rs332790 1 174709679 [T/C] NM_014857 RABGAP1L Silent rs1793319 1 174764608 [A/G] NM_014857 RABGAP1L Silent exm124955 1 174781083 [C/G] NM_014857,NM_001243765,NM_001330989 RABGAP1L,RABGAP1L,RABGAP1L EXON Missense_Q775H,Missense_Q94H,Silent rs1793316 1 174794144 [A/G] NM_014857,NM_001243765,NM_001330989 RABGAP1L,RABGAP1L,RABGAP1L Silent,Silent,Silent rs3018410 1 174818547 [A/G] NM_014857,NM_001243765,NM_001330989 RABGAP1L,RABGAP1L,RABGAP1L Silent,Silent,Silent rs2987878 1 174829296 [A/G] NM_014857,NM_001243765,NM_001330989 RABGAP1L,RABGAP1L,RABGAP1L Silent,Silent,Silent exm124960 1 174846693 [A/G] NM_014857,NM_001243765,NM_001330989,NM_001243763,NM_001035230 RABGAP1L,RABGAP1L,RABGAP1L,RABGAP1L,RABGAP1L EXON Silent,Silent,Missense_D21N,Missense_D21N,Missense_D21N variant.8573 1 174846748 [A/G] NM_014857,NM_001243765,NM_001330989,NM_001243763,NM_001035230 RABGAP1L,RABGAP1L,RABGAP1L,RABGAP1L,RABGAP1L Silent,Silent,Silent,Silent,Silent rs6700434 1 174868328 [T/C] NM_014857,NM_001243765,NM_001330989,NM_001243763,NM_001035230 RABGAP1L,RABGAP1L,RABGAP1L,RABGAP1L,RABGAP1L Silent,Silent,Silent,Silent,Silent rs6684515 1 174903882 [A/C] NM_014857,NM_001243765,NM_001330989,NM_001243763,NM_001035230 RABGAP1L,RABGAP1L,RABGAP1L,RABGAP1L,RABGAP1L Silent,Silent,Silent,Silent,Silent exm124964 1 174926686 [A/G] NM_014857,NM_001243765,NM_001330989,NM_001243763,NM_001035230 RABGAP1L,RABGAP1L,RABGAP1L,RABGAP1L,RABGAP1L EXON Synonymous_K811K,Synonymous_K130K,Synonymous_K68K,Synonymous_K68K,Synonymous_K68K exm2268950 1 174951749 [T/C] NM_001243765,NM_001330989,NM_001243764 RABGAP1L,RABGAP1L,RABGAP1L Silent,Silent,Silent rs7537508 1 174970505 [T/G] NM_001007214,NM_014412 CACYBP,CACYBP Silent,Silent rs6425310 1 174971682 [A/G] NM_001007214,NM_014412 CACYBP,CACYBP Silent,Silent exm124977 1 174973777 [T/G] NM_001007214,NM_014412 CACYBP,CACYBP EXON Silent,Missense_V15L exm124993 1 174977826 [A/G] NM_001007214,NM_014412 CACYBP,CACYBP EXON Missense_E129K,Missense_E172K exm124999 1 174979171 [G/C] NM_001007214,NM_014412 CACYBP,CACYBP EXON Missense_V172L,Missense_V215L rs10912866 1 174979726 [A/C] NM_001007214,NM_014412 CACYBP,CACYBP EXON Silent,Silent rs16847706 1 174983207 [T/G] NM_022100,NR_037606 MRPS14,MRPS14 EXON Silent,Silent exm2250280 1 174983910 [T/C] NM_022100,NR_037606 MRPS14,MRPS14 EXON Synonymous_T94T,Silent var_1_174987637 1 174987637 [A/G] NM_022100,NR_037606 MRPS14,MRPS14 EXON Nonsense_R41X,Silent exm125018 1 174987637 [A/G] NM_022100,NR_037606 MRPS14,MRPS14 EXON Nonsense_R41X,Silent rs10465483 1 174988963 [A/G] NM_022100,NR_037606 MRPS14,MRPS14 Silent,Silent rs997985 1 175010010 [A/G] rs10489329 1 175022406 [T/G] rs6672099 1 175029932 [T/G] rs763253 1 175033798 [T/G] rs10798331 1 175034437 [A/G] rs6703740 1 175041977 [T/G] NM_022093 TNN Silent exm125033 1 175046557 [T/G] NM_022093 TNN EXON Missense_M1I exm125034 1 175046576 [T/C] NM_022093 TNN EXON Missense_R8C exm125043 1 175046652 [A/G] NM_022093 TNN EXON Missense_C33Y exm125051 1 175046756 [A/G] NM_022093 TNN EXON Missense_D68N exm125060 1 175046826 [A/G] NM_022093 TNN EXON Missense_R91H exm125063 1 175046886 [A/G] NM_022093 TNN EXON Missense_R111Q exm125064 1 175046920 [A/G] NM_022093 TNN EXON Missense_M122I rs2269647 1 175047382 [T/C] NM_022093 TNN Silent exm2231881 1 175048706 [T/A] NM_022093 TNN EXON Missense_V216E exm125094 1 175048831 [T/G] NM_022093 TNN EXON Missense_D258Y exm125097 1 175049379 [A/G] NM_022093 TNN EXON Missense_D289N rs16847812 1 175049379 [A/G] NM_022093 TNN EXON Missense_D289N exm1737136 1 175049503 [A/C] NM_022093 TNN EXON Missense_T330N exm125102 1 175049514 [A/G] NM_022093 TNN EXON Missense_V334I exm1737139 1 175052942 [A/G] NM_022093 TNN EXON Missense_V369M exm125112 1 175052999 [A/G] NM_022093 TNN EXON Missense_M388V variant.8579 1 175053056 [T/C] NM_022093 TNN EXON Nonsense_R407X exm125118 1 175054607 [T/C] NM_022093 TNN EXON Missense_P434L exm125119 1 175054626 [T/G] NM_022093 TNN EXON Missense_R440S rs6694071 1 175057782 [A/G] NM_022093 TNN Silent exm1737146 1 175063127 [A/C] NM_022093 TNN EXON Missense_E442D indel.8581 1 175063189 [D/I] NM_022093 TNN EXON exm125122 1 175063222 [T/C] NM_022093 TNN EXON Missense_V474A exm125131 1 175066551 [A/T] NM_022093 TNN Silent exm125135 1 175066585 [C/G] NM_022093 TNN EXON Missense_R541G exm125163 1 175067674 [T/G] NM_022093 TNN EXON Missense_V688L rs12083818 1 175083952 [T/C] NM_022093 TNN Silent exm125172 1 175086153 [A/C] NM_022093 TNN EXON Missense_A733D exm125177 1 175086216 [T/C] NM_022093 TNN EXON Missense_P754L rs6690229 1 175086461 [A/G] NM_022093 TNN Silent rs7546260 1 175086965 [T/G] NM_022093 TNN Silent rs6656284 1 175087677 [A/G] NM_022093 TNN Silent exm125183 1 175087729 [T/C] NM_022093 TNN EXON Missense_W807R exm125187 1 175087846 [A/G] NM_022093 TNN EXON Missense_E846K rs6703913 1 175090414 [A/G] NM_022093 TNN Silent rs7521981 1 175091151 [A/G] NM_022093 TNN Silent exm125203 1 175092637 [T/C] NM_022093 TNN EXON Missense_R918C exm125217 1 175092794 [A/G] NM_022093 TNN EXON Missense_Q970R rs2072041 1 175092840 [T/C] NM_022093 TNN Silent exm1737186 1 175096130 [T/C] NM_022093 TNN EXON Missense_T985M exm125222 1 175096157 [T/C] NM_022093 TNN EXON Missense_T994M exm2250282 1 175096158 [A/G] NM_022093 TNN EXON Synonymous_T994T exm125234 1 175097264 [T/C] NM_022093 TNN EXON Missense_R1048C exm125236 1 175097299 [A/G] NM_022093 TNN EXON Synonymous_T1059T exm125244 1 175097769 [A/G] NM_022093 TNN EXON Missense_V1073I exm125251 1 175097863 [T/C] NM_022093 TNN EXON Missense_T1104M rs12146041 1 175102161 [A/G] NM_022093 TNN Silent exm125257 1 175104994 [A/G] NM_022093 TNN EXON Missense_R1115Q exm125263 1 175105055 [A/C] NM_022093 TNN EXON Missense_D1135E exm125269 1 175105996 [T/C] NM_022093 TNN EXON Missense_A1156V exm125272 1 175106086 [A/G] NM_022093 TNN EXON Missense_R1186Q rs12563833 1 175109517 [A/G] NM_022093 TNN Silent rs1018829 1 175109722 [A/G] NM_022093 TNN Silent rs10489328 1 175113118 [T/G] NM_022093 TNN Silent exm125275 1 175113607 [T/C] NM_022093 TNN EXON Missense_T1227I exm2273721 1 175116170 [A/G] NM_022093 TNN EXON Missense_K1288R exm125284 1 175116207 [A/G] NM_022093 TNN EXON Missense_X1300W exm-rs6701037 1 175120079 [A/C] rs6425323 1 175125036 [T/C] rs2269650 1 175129691 [T/G] NM_001162894,NM_001162893,NM_001319230,NM_014656,NM_001319231,NM_001162895 KIAA0040,KIAA0040,KIAA0040,KIAA0040,KIAA0040,KIAA0040 EXON Silent,Silent,Silent,Silent,Silent,Silent exm125303 1 175129888 [A/G] NM_001162894,NM_001162893,NM_001319230,NM_014656,NM_001319231,NM_001162895 KIAA0040,KIAA0040,KIAA0040,KIAA0040,KIAA0040,KIAA0040 EXON Missense_L88F,Missense_L88F,Missense_L88F,Missense_L88F,Missense_L88F,Missense_L88F exm125308 1 175130119 [T/C] NM_001162894,NM_001162893,NM_001319230,NM_014656,NM_001319231,NM_001162895 KIAA0040,KIAA0040,KIAA0040,KIAA0040,KIAA0040,KIAA0040 EXON Missense_I11V,Missense_I11V,Missense_I11V,Missense_I11V,Missense_I11V,Missense_I11V rs1057239 1 175130204 [A/G] NM_001162894,NM_001162893,NM_001319230,NM_014656,NM_001319231,NM_001162895 KIAA0040,KIAA0040,KIAA0040,KIAA0040,KIAA0040,KIAA0040 EXON Silent,Silent,Silent,Silent,Silent,Silent rs2861158 1 175135829 [A/G] NM_001162894,NM_001162893,NM_001319230,NM_014656,NM_001319231,NM_001162895 KIAA0040,KIAA0040,KIAA0040,KIAA0040,KIAA0040,KIAA0040 EXON Silent,Silent,Silent,Silent,Silent,Silent rs16847872 1 175138289 [A/G] NM_001162894,NM_001162893,NM_001319230,NM_014656,NM_001319231,NM_001162895 KIAA0040,KIAA0040,KIAA0040,KIAA0040,KIAA0040,KIAA0040 Silent,Silent,Silent,Silent,Silent,Silent rs3766696 1 175142462 [A/G] NM_001162894,NM_001162893,NM_001319230,NM_014656,NM_001319231,NM_001162895 KIAA0040,KIAA0040,KIAA0040,KIAA0040,KIAA0040,KIAA0040 Silent,Silent,Silent,Silent,Silent,Silent rs1008459 1 175151183 [T/C] NM_001162894,NM_001162893,NM_001319230,NM_014656,NM_001319231,NM_001162895 KIAA0040,KIAA0040,KIAA0040,KIAA0040,KIAA0040,KIAA0040 Silent,Silent,Silent,Silent,Silent,Silent rs3753555 1 175162805 [T/G] rs1012876 1 175173206 [A/C] rs6659761 1 175183939 [T/C] rs10912915 1 175187551 [A/G] rs10798348 1 175194390 [T/C] rs909467 1 175198786 [A/G] rs2012862 1 175201727 [T/G] rs6663906 1 175233237 [T/G] rs12058559 1 175241835 [A/C] rs1546844 1 175257650 [A/G] rs10912954 1 175276007 [A/C] rs12732088 1 175283119 [A/G] rs10798380 1 175286396 [T/C] rs11802001 1 175290855 [A/C] exm125313 1 175292499 [A/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_Q1357H,Missense_Q1024H exm1737304 1 175292527 [A/G] NM_003285,NM_001328635 TNR,TNR EXON Missense_M1348T,Missense_M1015T exm125320 1 175293575 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_M1292V,Missense_M959V exm-rs3766680 1 175296448 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs6688599 1 175298552 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs10489321 1 175298757 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent exm125333 1 175299311 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_R1231Q,Missense_R898Q indel.8586 1 175304915 [D/I] NM_003285,NM_001328635 TNR,TNR EXON exm2250285 1 175304941 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Synonymous_V1179V,Synonymous_V846V exm125348 1 175306758 [A/G] NM_003285,NM_001328635 TNR,TNR EXON Missense_T1147I,Missense_T814I rs2027866 1 175312472 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs2040425 1 175321003 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent exm125351 1 175323562 [A/G] NM_003285,NM_001328635 TNR,TNR EXON Missense_T1116M,Missense_T783M newrs146606650 1 175325455 [A/G] NM_003285,NM_001328635 TNR,TNR EXON Missense_L1040F,Missense_L707F exm125368 1 175325553 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_R1007Q,Missense_R674Q exm125371 1 175325586 [A/G] NM_003285,NM_001328635 TNR,TNR EXON Missense_T996I,Missense_T663I rs10798390 1 175326303 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent exm125378 1 175331822 [C/G] NM_003285,NM_001328635 TNR,TNR EXON Missense_R944P,Missense_R611P exm125385 1 175331892 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_T921A,Missense_T588A exm125386 1 175331918 [A/G] NM_003285,NM_001328635 TNR,TNR EXON Missense_P912L,Missense_P579L exm125397 1 175334216 [C/G] NM_003285,NM_001328635 TNR,TNR EXON Missense_E839D,Missense_E506D exm125402 1 175334326 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_R803G,Missense_R470G exm125404 1 175334409 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_R775H,Missense_R442H exm125420 1 175336358 [A/G] NM_003285,NM_001328635 TNR,TNR EXON Missense_M680T,Missense_M347T exm125422 1 175336392 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_V669I,Missense_V336I rs2236883 1 175338419 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs2236881 1 175339021 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs1351963 1 175343297 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent exm125429 1 175348715 [G/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_G646R,Missense_G313R exm125430 1 175348723 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_R643K,Missense_R310K exm125436 1 175348819 [T/G] NM_003285,NM_001328635 TNR,TNR EXON Missense_D611A,Missense_D278A exm125438 1 175348849 [C/G] NM_003285,NM_001328635 TNR,TNR EXON Missense_R601P,Missense_R268P rs859433 1 175352218 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent exm125442 1 175355171 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_T592A,Missense_T259A exm125444 1 175355216 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_V577I,Missense_V244I exm125449 1 175355251 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_R565Q,Missense_R232Q exm125457 1 175355368 [A/G] NM_003285,NM_001328635 TNR,TNR EXON Missense_P526L,Missense_P193L exm125460 1 175355394 [T/G] NM_003285,NM_001328635 TNR,TNR EXON Missense_D517E,Missense_D184E exm125461 1 175355402 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_V515I,Missense_V182I rs859438 1 175355618 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs10912968 1 175362638 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs3752517 1 175362736 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs12023965 1 175363204 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs6691883 1 175364423 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent exm125475 1 175365772 [A/G] NM_003285,NM_001328635 TNR,TNR EXON Missense_T383M,Missense_T50M exm125476 1 175365805 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_R372Q,Missense_R39Q exm1737391 1 175372315 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_V313I,Synonymous_A14A exm125490 1 175372347 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_S302N,Missense_V4M exm125501 1 175372645 [A/G] NM_003285,NM_001328635 TNR,TNR EXON Missense_Y203H,Silent exm125502 1 175372651 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_E201K,Silent exm125504 1 175372714 [T/G] NM_003285,NM_001328635 TNR,TNR EXON Missense_N180H,Silent rs859401 1 175374390 [T/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent exm125507 1 175375355 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_T166A,Silent exm125511 1 175375469 [A/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_A128S,Silent exm1737397 1 175375525 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_E109G,Silent exm125517 1 175375540 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_Q104R,Silent exm125518 1 175375545 [A/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_M102I,Silent exm125527 1 175375802 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_I17V,Silent exm125532 1 175375826 [T/C] NM_003285,NM_001328635 TNR,TNR EXON Missense_V9I,Silent rs12119177 1 175378694 [A/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent exm2250287 1 175387018 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs6655978 1 175403509 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs12565878 1 175411978 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs12735331 1 175413886 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs859460 1 175416603 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs4652090 1 175417063 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs859455 1 175423905 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs863519 1 175425083 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs859374 1 175431064 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs10912985 1 175436833 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs859413 1 175444933 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs2861311 1 175469011 [T/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs10912994 1 175488409 [T/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs864163 1 175492359 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs859359 1 175494230 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs859363 1 175495225 [A/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs7515041 1 175505966 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs1003964 1 175521376 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs10489312 1 175526526 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs6676780 1 175526544 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs16848639 1 175532858 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs7354864 1 175542257 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs10913019 1 175552365 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs6688098 1 175561555 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs6690188 1 175564860 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs7541077 1 175567218 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs10913029 1 175578177 [T/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs7546740 1 175581072 [A/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs7515728 1 175581146 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs2179158 1 175585503 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs10798409 1 175590376 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs1323120 1 175600179 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs10913043 1 175612924 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs4652099 1 175629207 [A/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs10913052 1 175630097 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs4652101 1 175636696 [T/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs7544659 1 175647041 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs4233164 1 175651786 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs6676099 1 175661819 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs1155910 1 175664892 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs7539097 1 175669902 [A/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs12144778 1 175684583 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs6675876 1 175700507 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs4565663 1 175709171 [T/C] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs909741 1 175709327 [T/G] NM_003285,NM_001328635 TNR,TNR Silent,Silent rs671000 1 175731846 [T/C] rs675031 1 175734121 [A/G] rs6659350 1 175735380 [T/C] rs1325914 1 175744041 [A/C] rs6425361 1 175756706 [T/C] rs16828536 1 175766820 [T/C] rs7537684 1 175769259 [T/C] rs7520699 1 175783896 [A/G] rs562631 1 175791748 [T/C] rs571898 1 175824794 [A/C] rs11810084 1 175827683 [A/G] rs732292 1 175832217 [A/G] rs16849285 1 175846158 [T/C] rs578140 1 175848088 [A/G] NR_125964 LINC01657 EXON Silent rs4652137 1 175848239 [T/C] NR_125964 LINC01657 EXON Silent rs532799 1 175852209 [A/G] rs12759426 1 175859765 [A/G] rs10753110 1 175869554 [A/C] rs10494494 1 175874139 [T/C] rs7525623 1 175885411 [A/G] rs2030558 1 175889627 [A/C] rs7516327 1 175891622 [T/C] rs6695241 1 175894857 [A/G] rs10798432 1 175952542 [A/G] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 Silent,Silent,Silent rs6425374 1 176001496 [T/G] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 Silent,Silent,Silent newrs142130934 1 176012946 [A/C] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 EXON Missense_S477I,Missense_S237I,Missense_S453I exm125559 1 176012946 [A/C] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 EXON Missense_S477I,Missense_S237I,Missense_S453I rs12729524 1 176018764 [T/G] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 Silent,Silent,Silent exm125567 1 176050414 [T/C] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 EXON Missense_R384Q,Missense_R144Q,Missense_R360Q variant.8591 1 176054907 [T/C] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 Silent,Silent,Silent exm125570 1 176054921 [A/G] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 EXON Missense_R378C,Missense_R138C,Missense_R354C rs2481640 1 176060829 [T/C] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 Silent,Silent,Silent rs2502841 1 176088186 [A/C] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 Silent,Silent,Silent rs7517503 1 176092668 [T/C] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 Silent,Silent,Silent exm125573 1 176104219 [T/C] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 EXON Missense_M299V,Missense_M59V,Missense_M275V exm125576 1 176105631 [G/C] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 EXON Missense_R295T,Missense_R55T,Silent rs2039232 1 176111527 [T/C] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 Silent,Silent,Silent exm125577 1 176118179 [A/G] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 EXON Missense_M265T,Missense_M25T,Missense_M261T exm125578 1 176118187 [C/G] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 EXON Missense_Q262H,Missense_Q22H,Missense_Q258H rs3748618 1 176118219 [A/G] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 Silent,Silent,Silent rs12239888 1 176122170 [T/C] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 Silent,Silent,Silent newrs150041404 1 176132950 [T/C] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 Silent,Silent,Silent exm1737678 1 176145082 [T/C] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 EXON Missense_V177M,Synonymous_L2L,Missense_V177M exm125583 1 176145129 [T/C] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 EXON Missense_H161R,Silent,Missense_H161R exm125589 1 176175819 [A/C] NM_022457,NM_001286644,NM_001001740 COP1,COP1,COP1 EXON Missense_V99G,Silent,Missense_V99G exm2268787 1 176219438 [T/C] rs352314 1 176233932 [T/C] rs12144020 1 176273901 [T/C] rs2504473 1 176277052 [A/G] rs2455730 1 176295837 [A/G] rs2455729 1 176298497 [A/C] rs10913158 1 176311597 [A/G] rs4652171 1 176345256 [T/G] rs1503124 1 176354126 [A/G] rs2504494 1 176362201 [A/G] kgp1568295 1 176363059 [A/G] rs7552857 1 176429364 [A/G] exm2259865 1 176435410 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs6667264 1 176465969 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs7521130 1 176470980 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs11584882 1 176475180 [A/C] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs10489473 1 176487700 [A/C] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs992922 1 176508293 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs2206510 1 176513537 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent exm2268788 1 176521349 [T/G] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent exm125602 1 176525585 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_V43M,Missense_V43M exm125603 1 176525591 [T/A] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_L45M,Missense_L45M exm125608 1 176525784 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_P109L,Missense_P109L exm125609 1 176525828 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_E124K,Missense_E124K exm125614 1 176525970 [G/C] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_T171S,Missense_T171S exm125630 1 176526195 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_G246D,Missense_G246D exm125636 1 176526264 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_R269Q,Missense_R269Q rs240099 1 176547669 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs12094283 1 176548900 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs11587239 1 176551626 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent exm125646 1 176563683 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_T315A,Missense_T315A exm125651 1 176563779 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_V347M,Missense_V347M exm125653 1 176563812 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_R358C,Missense_R358C exm1737825 1 176564076 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_S446G,Missense_S446G exm125662 1 176564092 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_A451V,Missense_A451V exm125663 1 176564113 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_A458V,Missense_A458V exm2231899 1 176564156 [T/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_D472E,Missense_D472E exm125666 1 176564200 [A/T] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_E487V,Missense_E487V exm125667 1 176564215 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_S492L,Missense_S492L exm125671 1 176564323 [A/T] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_Q528L,Missense_Q528L exm1737828 1 176564490 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_V584M,Missense_V584M rs909941 1 176565307 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs10798463 1 176571578 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs12139318 1 176589732 [A/C] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs10913227 1 176611275 [T/G] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs1015901 1 176630817 [A/C] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs12071948 1 176632533 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent exm125685 1 176640107 [T/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_A665S,Missense_A665S variant.8595 1 176640226 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Nonsense_W704X,Nonsense_W704X rs7540152 1 176656255 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent exm125693 1 176659378 [T/A] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_V748D,Missense_V748D exm125700 1 176659510 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_T792I,Missense_T792I exm125701 1 176659527 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_F798L,Missense_F798L exm2231902 1 176661361 [T/C] NM_020318 PAPPA2 EXON Missense_T844I variant.8597 1 176661454 [A/G] NM_020318 PAPPA2 EXON Missense_R875K exm125720 1 176664947 [T/C] NM_020318 PAPPA2 EXON Missense_R900W rs791031 1 176667810 [T/G] NM_020318 PAPPA2 Silent exm125728 1 176668328 [T/C] NM_020318 PAPPA2 EXON Missense_P947S exm125738 1 176668542 [T/C] NM_020318 PAPPA2 EXON Missense_S1018L exm125750 1 176671843 [T/C] NM_020318 PAPPA2 EXON Missense_P1113S exm2231906 1 176679141 [A/G] NM_020318 PAPPA2 EXON Missense_M1160I exm125760 1 176679157 [A/G] NM_020318 PAPPA2 EXON Missense_I1166V exm125762 1 176679242 [A/G] NM_020318 PAPPA2 EXON Missense_R1194Q exm125763 1 176679311 [T/C] NM_020318 PAPPA2 EXON Missense_L1217P exm125772 1 176681116 [A/G] NM_020318 PAPPA2 EXON Missense_K1266R rs7526821 1 176690586 [T/C] NM_020318 PAPPA2 Silent rs12117539 1 176703822 [T/G] NM_020318 PAPPA2 Silent rs10913245 1 176705147 [T/C] NM_020318 PAPPA2 Silent exm125775 1 176708801 [A/G] NM_020318 PAPPA2 EXON Missense_I1280V exm125791 1 176709189 [C/G] NM_020318 PAPPA2 EXON Missense_H1336Q exm125794 1 176709232 [A/G] NM_020318 PAPPA2 EXON Missense_G1351S exm125798 1 176709309 [C/G] NM_020318 PAPPA2 EXON Missense_E1376D exm125807 1 176734961 [C/G] NM_020318 PAPPA2 EXON Missense_I1437M exm125808 1 176738779 [A/G] NM_020318 PAPPA2 EXON Missense_D1454N exm125819 1 176740180 [T/G] NM_020318 PAPPA2 EXON Missense_A1527S rs2076336 1 176759336 [A/G] NM_020318 PAPPA2 Silent exm125827 1 176760483 [T/C] NM_020318 PAPPA2 EXON Missense_L1629F exm1737975 1 176762710 [A/C] NM_020318 PAPPA2 EXON Missense_P1679T variant.8599 1 176762805 [A/G] NM_020318 PAPPA2 EXON Synonymous_Q1710Q rs10913256 1 176769358 [T/C] NM_020318 PAPPA2 Silent exm-rs1325598 1 176792249 [A/G] NM_020318 PAPPA2 Silent rs1040457 1 176802119 [T/C] NM_020318 PAPPA2 Silent rs2038114 1 176816410 [T/C] rs12094387 1 176819875 [T/C] rs6425398 1 176832613 [T/C] NM_001286164,NM_001364856,NM_004319 ASTN1,ASTN1,ASTN1 EXON Silent,Silent,Silent exm125846 1 176833427 [T/C] NM_001286164,NM_001364856,NM_004319 ASTN1,ASTN1,ASTN1 EXON Silent,Missense_E1301G,Missense_E1293G exm125847 1 176833455 [G/C] NM_001286164,NM_001364856,NM_004319 ASTN1,ASTN1,ASTN1 EXON Silent,Missense_P1292A,Missense_P1284A exm125849 1 176833481 [A/G] NM_001286164,NM_001364856,NM_004319 ASTN1,ASTN1,ASTN1 EXON Silent,Missense_T1283M,Missense_T1275M exm125850 1 176833486 [C/G] NM_001286164,NM_001364856,NM_004319 ASTN1,ASTN1,ASTN1 EXON Silent,Missense_R1281S,Missense_R1273S exm125851 1 176833497 [G/C] NM_001286164,NM_001364856,NM_004319 ASTN1,ASTN1,ASTN1 EXON Silent,Missense_R1278G,Missense_R1270G exm125855 1 176833571 [T/C] NM_001286164,NM_001364856,NM_004319 ASTN1,ASTN1,ASTN1 EXON Silent,Missense_R1253H,Missense_R1245H rs10913267 1 176842745 [T/G] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent rs2076339 1 176845386 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent exm1738047 1 176845738 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_R1133H,Missense_R1141H,Missense_R1133H,Missense_R1133H exm125871 1 176852023 [A/G] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Nonsense_R1112X,Nonsense_R1120X,Nonsense_R1112X,Nonsense_R1112X exm125878 1 176853522 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_R1060H,Missense_R1068H,Missense_R1060H,Missense_R1060H exm125883 1 176853612 [A/G] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_T1030M,Missense_T1038M,Missense_T1030M,Missense_T1030M exm125886 1 176857270 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_R1004Q,Missense_R1012Q,Missense_R1004Q,Missense_R1004Q exm2231911 1 176857291 [A/T] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_D997V,Missense_D1005V,Missense_D997V,Missense_D997V rs10913273 1 176862051 [A/G] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent exm125893 1 176863777 [A/G] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_T954I,Missense_T962I,Missense_T954I,Missense_T954I exm125899 1 176863867 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_H924R,Missense_H932R,Missense_H924R,Missense_H924R exm125900 1 176863877 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_G921S,Missense_G929S,Missense_G921S,Missense_G921S rs6670777 1 176891234 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent exm125907 1 176903378 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_I861V,Missense_I869V,Missense_I861V,Missense_I861V exm125911 1 176903467 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_N831S,Missense_N839S,Missense_N831S,Missense_N831S rs7521505 1 176904590 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent exm125923 1 176915074 [T/G] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_K746T,Missense_K754T,Missense_K746T,Missense_K746T exm125925 1 176915087 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_G742R,Missense_G750R,Missense_G742R,Missense_G742R exm125928 1 176915101 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_K737R,Missense_K745R,Missense_K737R,Missense_K737R exm125929 1 176915156 [G/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_P719A,Missense_P727A,Missense_P719A,Missense_P719A exm125931 1 176915162 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_E717K,Missense_E725K,Missense_E717K,Missense_E717K exm125933 1 176915207 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_I702V,Missense_I710V,Missense_I702V,Missense_I702V exm125936 1 176915233 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_G693D,Missense_G701D,Missense_G693D,Missense_G693D exm125941 1 176918480 [T/G] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_S632Y,Missense_S640Y,Missense_S632Y,Missense_S632Y rs2067038 1 176918675 [T/G] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent exm125944 1 176926816 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_V629M,Missense_V637M,Missense_V629M,Missense_V629M exm125950 1 176926872 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_G610D,Missense_G618D,Missense_G610D,Missense_G610D exm125956 1 176926903 [A/G] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_P600S,Missense_P608S,Missense_P600S,Missense_P600S rs10798491 1 176939999 [T/G] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent rs7554930 1 176940878 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent rs227992 1 176945623 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent rs2142756 1 176952890 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent rs228008 1 176963207 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent rs735607 1 176976782 [A/G] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent rs172917 1 176992553 [A/G] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Synonymous_C475C,Synonymous_C475C,Synonymous_C475C,Synonymous_C475C exm125981 1 176993779 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_V404I,Missense_V404I,Missense_V404I,Missense_V404I exm2250304 1 176993795 [A/G] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Synonymous_L398L,Synonymous_L398L,Synonymous_L398L,Synonymous_L398L variant.8607 1 176999937 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent exm126001 1 176999963 [G/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_R331G,Missense_R331G,Missense_R331G,Missense_R331G exm126010 1 177001793 [C/G] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_V222L,Missense_V222L,Missense_V222L,Missense_V222L rs16850689 1 177015606 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent rs2861885 1 177021726 [A/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent exm126026 1 177030223 [G/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_I154M,Missense_I154M,Missense_I154M,Missense_I154M exm126031 1 177030318 [A/G] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_H123Y,Missense_H123Y,Missense_H123Y,Missense_H123Y exm126033 1 177030344 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_E114G,Missense_E114G,Missense_E114G,Missense_E114G exm126036 1 177030375 [G/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_P104A,Missense_P104A,Missense_P104A,Missense_P104A rs6678480 1 177054771 [A/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent rs227530 1 177058201 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent rs7519595 1 177074669 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent exm2268952 1 177091092 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent rs227511 1 177093387 [A/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent rs10798499 1 177097442 [A/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent rs10047083 1 177104130 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent rs12021769 1 177132067 [T/C] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 Silent,Silent,Silent,Silent exm126051 1 177133639 [T/G] NM_001286164,NM_001364856,NM_004319,NM_207108 ASTN1,ASTN1,ASTN1,ASTN1 EXON Missense_S58R,Missense_S58R,Missense_S58R,Missense_S58R rs10913294 1 177142106 [T/C] NM_021165 BRINP2 Silent rs12128612 1 177158631 [T/C] NM_021165 BRINP2 Silent rs12031932 1 177162809 [T/C] NM_021165 BRINP2 Silent rs4652232 1 177173363 [A/G] NM_021165 BRINP2 Silent rs2294254 1 177178708 [T/C] NM_021165 BRINP2 Silent rs556287 1 177181347 [A/C] NM_021165 BRINP2 Silent exm2264924 1 177193408 [A/G] NM_021165 BRINP2 Silent rs932311 1 177193697 [T/G] NM_021165 BRINP2 Silent rs3176441 1 177198998 [T/C] NM_021165 BRINP2 EXON Silent exm126058 1 177199021 [T/G] NM_021165 BRINP2 EXON Missense_W3C exm126060 1 177199049 [T/C] NM_021165 BRINP2 EXON Missense_R13W exm126061 1 177199053 [T/C] NM_021165 BRINP2 EXON Missense_P14L exm126072 1 177199251 [A/G] NM_021165 BRINP2 EXON Missense_Q80R exm126073 1 177199272 [A/G] NM_021165 BRINP2 EXON Missense_R87K rs1879563 1 177204902 [A/G] NM_021165 BRINP2 Silent rs982875 1 177208980 [T/G] NM_021165 BRINP2 Silent exm126075 1 177225056 [G/C] NM_021165 BRINP2 EXON Missense_E91Q exm126087 1 177226503 [A/G] NM_021165 BRINP2 EXON Missense_A218T 1KG_1_177242685 1 177242685 [I/D] NM_021165 BRINP2 EXON exm126091 1 177242718 [T/C] NM_021165 BRINP2 EXON Missense_V255A exm126096 1 177245370 [A/G] NM_021165 BRINP2 EXON Missense_R271H exm126101 1 177245423 [A/G] NM_021165 BRINP2 EXON Missense_V289I exm126104 1 177245496 [T/C] NM_021165 BRINP2 EXON Missense_I313T exm126117 1 177247854 [G/C] NM_021165 BRINP2 EXON Missense_L390V exm126119 1 177247873 [T/A] NM_021165 BRINP2 EXON Missense_L396H exm126135 1 177249738 [T/C] NM_021165 BRINP2 EXON Missense_R476C exm126154 1 177250197 [A/G] NM_021165 BRINP2 EXON Missense_I629V exm126162 1 177250522 [A/G] NM_021165 BRINP2 EXON Missense_R737Q exm126164 1 177250549 [A/G] NM_021165 BRINP2 EXON Missense_R746Q rs16851031 1 177258204 [T/C] rs11587000 1 177261108 [A/G] rs766021 1 177269474 [T/C] rs16851037 1 177271313 [A/G] rs12569209 1 177279412 [A/G] rs12401643 1 177286000 [T/G] rs1123317 1 177300379 [T/C] rs4453002 1 177300809 [T/C] rs10798510 1 177303628 [T/C] rs4650963 1 177309490 [T/G] rs6664016 1 177320470 [A/G] rs4652247 1 177328296 [A/G] NR_126001 LINC01645 Silent rs2902103 1 177341802 [T/G] rs2142754 1 177381322 [T/C] rs9662701 1 177384036 [A/G] rs9943212 1 177387829 [T/C] rs7543021 1 177403769 [T/G] rs715359 1 177431168 [T/C] rs6425426 1 177436018 [A/G] rs10737324 1 177466529 [T/C] rs12047881 1 177480934 [T/C] rs841789 1 177493799 [T/C] rs1098777 1 177508044 [A/G] rs10737325 1 177512260 [T/C] rs2093203 1 177525531 [A/G] exm2268789 1 177539967 [T/G] rs1415339 1 177560435 [T/C] rs1252068 1 177602068 [T/C] rs12140710 1 177613863 [A/G] rs4652252 1 177625201 [A/G] rs1252066 1 177626285 [T/G] rs12035381 1 177648733 [A/G] rs1923630 1 177649849 [T/C] rs2104212 1 177651210 [A/G] rs12139234 1 177669302 [A/G] rs2181263 1 177670577 [T/C] NR_110722 LINC01741 Silent rs4509537 1 177671478 [T/C] NR_110722 LINC01741 Silent rs7542551 1 177680031 [A/G] rs3131308 1 177700306 [A/G] rs2065140 1 177710595 [A/G] rs3131323 1 177719196 [T/C] rs3131325 1 177723089 [T/C] rs3131333 1 177742007 [A/G] rs2093519 1 177752701 [A/G] rs10913419 1 177755464 [A/G] rs7411090 1 177762940 [T/C] rs4072161 1 177769687 [T/G] rs10913425 1 177770655 [T/C] rs4442331 1 177772815 [A/G] rs10913431 1 177778970 [T/C] rs4081367 1 177790062 [T/C] rs7537762 1 177808463 [A/G] rs10798574 1 177809627 [T/G] rs12737338 1 177811939 [T/C] rs3131310 1 177814914 [A/G] rs3131313 1 177821366 [T/C] rs2862278 1 177843620 [T/G] exm-rs633715 1 177852580 [T/C] rs10798578 1 177856925 [T/C] rs527065 1 177868882 [T/G] rs10157480 1 177873333 [A/G] rs630372 1 177885762 [A/G] rs480603 1 177887214 [T/C] rs16852100 1 177888809 [T/C] rs543874 1 177889480 [A/G] exm-rs543874 1 177889480 [A/G] rs623479 1 177898799 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Silent,Silent,Silent,Silent exm126176 1 177899030 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_R708H,Missense_R1049H,Missense_R1050H,Missense_R1050H exm126178 1 177899045 [A/G] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_L703P,Missense_L1044P,Missense_L1045P,Missense_L1045P exm1738695 1 177899688 [C/G] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_V694L,Missense_V1035L,Missense_V1036L,Missense_V1036L exm126181 1 177899689 [A/C] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_Q693H,Missense_Q1034H,Missense_Q1035H,Missense_Q1035H exm126182 1 177899699 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_N690S,Missense_N1031S,Missense_N1032S,Missense_N1032S rs522367 1 177901713 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B Silent,Silent,Silent,Silent exm126194 1 177902368 [A/G] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_S594L,Missense_S935L,Missense_S935L,Missense_S935L exm126197 1 177902387 [A/C] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_A588S,Missense_A929S,Missense_A929S,Missense_A929S exm126204 1 177902725 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_S532N,Missense_S873N,Missense_S873N,Missense_S873N rs3813649 1 177902725 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_S532N,Missense_S873N,Missense_S873N,Missense_S873N exm126207 1 177902753 [G/C] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_P523A,Missense_P864A,Missense_P864A,Missense_P864A rs10489882 1 177904495 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B Silent,Silent,Silent,Silent exm126208 1 177905454 [T/G] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_Q509H,Missense_Q850H,Missense_Q850H,Missense_Q850H exm126209 1 177905469 [A/C] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_Q504H,Missense_Q845H,Missense_Q845H,Missense_Q845H exm126210 1 177905488 [A/T] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_V498E,Missense_V839E,Missense_V839E,Missense_V839E exm126217 1 177906437 [A/C] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_H464Q,Missense_H805Q,Missense_H805Q,Missense_H805Q exm126225 1 177906507 [A/G] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_S441F,Missense_S782F,Missense_S782F,Missense_S782F exm126232 1 177906621 [C/G] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_G403A,Missense_G744A,Missense_G744A,Missense_G744A exm126233 1 177906633 [T/G] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_Q399P,Missense_Q740P,Missense_Q740P,Missense_Q740P exm126236 1 177908852 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_G389R,Missense_G730R,Missense_G730R,Missense_G730R exm126239 1 177908860 [A/G] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_S386L,Missense_S727L,Missense_S727L,Missense_S727L exm1738723 1 177908893 [A/G] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_I375T,Missense_I716T,Missense_I716T,Missense_I716T exm126242 1 177909767 [A/G] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_A361V,Missense_A702V,Missense_A702V,Missense_A702V exm126249 1 177911130 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_V302M,Missense_V643M,Missense_V643M,Missense_V643M exm126250 1 177911150 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_R295H,Missense_R636H,Missense_R636H,Missense_R636H exm126251 1 177911151 [A/G] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_R295C,Missense_R636C,Missense_R636C,Missense_R636C exm-rs10913469 1 177913519 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B Silent,Silent,Silent,Silent exm126254 1 177913757 [A/G] NM_001356500,NM_033127,NM_001356505,NM_001356506 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B EXON Missense_T266M,Missense_T607M,Missense_T607M,Missense_T607M exm126261 1 177917055 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Missense_G182E,Missense_G523E,Missense_G523E,Missense_G523E,Missense_G524E,Silent exm126268 1 177921119 [A/G] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Missense_T151M,Missense_T492M,Missense_T492M,Missense_T492M,Missense_T493M,Silent variant.8620 1 177927265 [A/G] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B Silent,Silent,Silent,Silent,Silent,Silent exm126277 1 177927334 [A/G] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Missense_P92L,Missense_P433L,Missense_P433L,Missense_P433L,Missense_P434L,Silent exm126280 1 177927479 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Missense_I44V,Missense_I385V,Missense_I385V,Missense_I385V,Missense_I386V,Silent exm126283 1 177928008 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Nonsense_W26X,Nonsense_W367X,Nonsense_W367X,Nonsense_W367X,Nonsense_W368X,Silent rs7413442 1 177929940 [A/G] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Silent,Synonymous_L308L,Synonymous_L308L,Synonymous_L308L,Synonymous_L309L,Silent exm126300 1 177930009 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Silent,Missense_G285R,Missense_G285R,Missense_G285R,Missense_G286R,Silent variant.8622 1 177930065 [T/G] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Silent,Nonsense_S266X,Nonsense_S266X,Nonsense_S266X,Nonsense_S267X,Silent exm126303 1 177930832 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Silent,Missense_R227H,Missense_R227H,Missense_R227H,Missense_R227H,Silent exm126304 1 177930833 [A/G] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Silent,Missense_R227C,Missense_R227C,Missense_R227C,Missense_R227C,Silent rs945641 1 177930894 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B Silent,Silent,Silent,Silent,Silent,Silent rs10798585 1 177931122 [A/G] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B Silent,Silent,Silent,Silent,Silent,Silent exm126316 1 177934291 [A/G] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Silent,Missense_R142W,Missense_R142W,Missense_R142W,Missense_R142W,Silent rs954503 1 177935443 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B Silent,Silent,Silent,Silent,Silent,Silent exm126324 1 177936870 [C/G] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Silent,Missense_V83L,Missense_V83L,Missense_V83L,Missense_V83L,Silent var_1_177936881 1 177936881 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Silent,Nonsense_W79X,Nonsense_W79X,Nonsense_W79X,Nonsense_W79X,Silent exm126326 1 177936959 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Silent,Missense_R53H,Missense_R53H,Missense_R53H,Missense_R53H,Silent exm126327 1 177936994 [T/G] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Silent,Missense_H41Q,Missense_H41Q,Missense_H41Q,Missense_H41Q,Silent exm126328 1 177936996 [C/G] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Silent,Missense_H41D,Missense_H41D,Missense_H41D,Missense_H41D,Silent exm126330 1 177937016 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Silent,Missense_R34Q,Missense_R34Q,Missense_R34Q,Missense_R34Q,Silent exm126333 1 177937038 [A/T] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Silent,Missense_F27I,Missense_F27I,Missense_F27I,Missense_F27I,Silent exm126335 1 177937065 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Silent,Missense_A18T,Missense_A18T,Missense_A18T,Missense_A18T,Silent exm126336 1 177937079 [T/C] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B EXON Silent,Missense_R13Q,Missense_R13Q,Missense_R13Q,Missense_R13Q,Silent rs6682862 1 177938437 [A/G] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B Silent,Silent,Silent,Silent,Silent,Silent rs10158522 1 177938712 [A/G] NM_001356500,NM_033127,NM_001356505,NM_001356506,NM_001356499,NR_151492 SEC16B,SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,SEC16B,CRYZL2P-SEC16B Silent,Silent,Silent,Silent,Silent,Silent rs869286 1 177943812 [T/C] NM_001356500,NM_001356505,NM_001356506,NR_151492 SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B Silent,Silent,Silent,Silent rs10913485 1 177965223 [T/C] NM_001356505,NM_001356506,NR_151492 CRYZL2P-SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B Silent,Silent,Silent rs12409286 1 177971147 [T/C] NM_001356505,NM_001356506,NR_151492 CRYZL2P-SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B Silent,Silent,Silent rs7340104 1 177971866 [T/C] NM_001356505,NM_001356506,NR_151492 CRYZL2P-SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B Silent,Silent,Silent exm2268790 1 177974569 [T/C] NM_001356505,NM_001356506,NR_151492 CRYZL2P-SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B Silent,Silent,Silent rs11588190 1 177976440 [T/C] NM_001356505,NM_001356506,NR_151492,NR_151488,NR_037167,NR_151486,NR_151483,NR_151484,NR_151487,NR_151489,NR_151485 CRYZL2P-SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4147158 1 177981232 [T/C] NM_001356505,NM_001356506,NR_151492,NR_151488,NR_037167,NR_151486,NR_151483,NR_151484,NR_151487,NR_151489,NR_151485 CRYZL2P-SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16852358 1 177991255 [T/C] NM_001356505,NM_001356506,NR_151492,NR_151488,NR_037167,NR_151486,NR_151483,NR_151484,NR_151487,NR_151489,NR_151485 CRYZL2P-SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs946817 1 177997709 [A/G] NM_001356505,NM_001356506,NR_151492,NR_151488,NR_037167,NR_151486,NR_151483,NR_151484,NR_151487,NR_151489,NR_151485 CRYZL2P-SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12410468 1 177999767 [T/C] NM_001356505,NM_001356506,NR_151492,NR_151488,NR_037167,NR_151486,NR_151483,NR_151484,NR_151487,NR_151489,NR_151485 CRYZL2P-SEC16B,CRYZL2P-SEC16B,CRYZL2P-SEC16B,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P,CRYZL2P Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7540551 1 178018617 [A/G] rs11803039 1 178021124 [T/G] exm2259869 1 178028711 [T/C] rs17360740 1 178029944 [A/G] rs11583320 1 178042145 [T/C] rs2862303 1 178045388 [T/G] exm2275524 1 178063812 [C/G] NM_170692 RASAL2 EXON Missense_S62T rs728569 1 178095048 [A/G] NM_170692 RASAL2 Silent rs389563 1 178163144 [T/G] NM_170692 RASAL2 Silent rs178397 1 178181554 [T/C] NM_170692 RASAL2 Silent rs1412784 1 178206664 [A/G] NM_170692 RASAL2 Silent rs623225 1 178211322 [A/C] NM_170692 RASAL2 Silent rs7531227 1 178232469 [T/C] NM_170692 RASAL2 Silent exm126348 1 178269146 [A/T] NM_170692 RASAL2 EXON Missense_Q117L exm126351 1 178269208 [A/G] NM_170692 RASAL2 EXON Missense_E138K exm126353 1 178269238 [A/G] NM_170692 RASAL2 EXON Missense_G148S exm126354 1 178269244 [A/G] NM_170692 RASAL2 EXON Missense_T150A rs10913534 1 178296326 [T/C] NM_170692 RASAL2 Silent exm126355 1 178310738 [A/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Silent,Missense_T3N variant.8627 1 178310745 [T/C] NM_170692,NM_004841 RASAL2,RASAL2 Silent,Silent rs2175254 1 178319105 [A/G] NM_170692,NM_004841 RASAL2,RASAL2 Silent,Silent rs977034 1 178353532 [A/C] NM_170692,NM_004841 RASAL2,RASAL2 Silent,Silent exm2231929 1 178359244 [T/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_A156V,Missense_A8V rs10913550 1 178408795 [A/G] NM_170692,NM_004841 RASAL2,RASAL2 Silent,Silent exm2250316 1 178410731 [A/T] NM_170692,NM_004841 RASAL2,RASAL2 EXON Synonymous_S292S,Synonymous_S144S exm1738952 1 178412093 [A/G] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_S404N,Missense_S256N exm126384 1 178412191 [T/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_R437C,Missense_R289C rs2017349 1 178419417 [A/G] NM_170692,NM_004841 RASAL2,RASAL2 Silent,Silent exm126396 1 178420787 [A/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_D570A,Missense_D422A variant.8628 1 178426039 [T/G] NM_170692,NM_004841 RASAL2,RASAL2 Silent,Silent newrs150992459 1 178426846 [T/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Nonsense_Q807X,Nonsense_Q666X exm2273722 1 178426850 [A/G] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_D808G,Missense_D667G exm1738990 1 178427099 [A/G] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_R891Q,Missense_R750Q exm126423 1 178427156 [T/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_A910V,Missense_A769V exm1738991 1 178427309 [T/A] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_D961V,Missense_D820V exm2250317 1 178427541 [T/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Synonymous_T1038T,Synonymous_T897T rs16852854 1 178429171 [T/C] NM_170692,NM_004841 RASAL2,RASAL2 Silent,Silent exm126445 1 178435086 [A/G] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_R1140H,Missense_R999H exm126450 1 178435209 [A/G] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_R1181Q,Missense_R1040Q exm126452 1 178436480 [T/G] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_V1201G,Missense_V1060G exm126454 1 178436488 [A/G] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_E1204K,Missense_E1063K exm126462 1 178442259 [T/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_A1243V,Missense_A1102V rs6693257 1 178450304 [A/C] rs4304537 1 178476554 [T/C] rs7514214 1 178480995 [A/G] var_1_178482347 1 178482348 [I/D] NM_032126,NM_001170724,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON exm126476 1 178483205 [T/C] NM_032126,NM_001170724,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_P28L,Missense_P28L,Missense_P36L,Missense_P28L exm126481 1 178483841 [A/G] NM_032126,NM_001170724,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_D33N,Missense_D33N,Missense_D41N,Missense_D33N exm126482 1 178483868 [T/C] NM_032126,NM_001170724,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_R42W,Missense_R42W,Missense_R50W,Missense_R42W exm126485 1 178484998 [A/G] NM_032126,NM_001170724,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_E55G,Missense_E55G,Missense_E63G,Missense_E55G exm126493 1 178485772 [T/A] NM_032126,NM_001170724,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_D80V,Missense_D80V,Missense_D88V,Missense_D80V exm126494 1 178485775 [T/G] NM_032126,NM_001170724,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_F81C,Missense_F81C,Missense_F89C,Missense_F81C exm126502 1 178489520 [A/G] NM_032126,NM_001170724,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_D97G,Missense_D97G,Missense_D105G,Missense_D97G exm126510 1 178489822 [A/C] NM_032126,NM_001170724,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_A119E,Missense_A119E,Missense_A127E,Missense_A119E exm126514 1 178489858 [A/G] NM_032126,NM_001170724,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_K131R,Missense_K131R,Missense_K139R,Missense_K131R exm126516 1 178489903 [G/C] NM_032126,NM_001170724,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_A146G,Missense_A146G,Missense_A154G,Missense_A146G exm126518 1 178489935 [C/G] NM_032126,NM_001170724,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_H157D,Missense_H157D,Missense_H165D,Missense_H157D indel.8636 1 178489969 [I/D] NM_032126,NM_001170724,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON rs3813636 1 178489978 [T/G] NM_032126,NM_001170724,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_L171R,Missense_L171R,Missense_L179R,Missense_L171R exm126521 1 178489978 [T/G] NM_032126,NM_001170724,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_L171R,Missense_L171R,Missense_L179R,Missense_L171R variant.8637 1 178489998 [A/G] NM_032126,NM_001170724,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_G178R,Missense_G178R,Missense_G186R,Missense_G178R exm126523 1 178490010 [A/G] NM_032126,NM_001170724,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 Silent,Silent,Silent,Silent exm126530 1 178490387 [A/G] NM_032126,NM_001170724,NM_001170722,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_N192D,Missense_N192D,Missense_N200D,Missense_N192D exm126536 1 178491513 [A/G] NM_032126,NM_001170724,NM_001170722 TEX35,TEX35,TEX35 EXON Missense_T214A,Silent,Silent exm126538 1 178491570 [A/G] NM_032126,NM_001170724,NM_001170722 TEX35,TEX35,TEX35 EXON Missense_R233G,Silent,Silent rs4075631 1 178506594 [A/C] rs12568310 1 178514622 [T/C] NR_033186 C1orf220 EXON Silent variant.8642 1 178514984 [T/C] NR_033186 C1orf220 EXON Silent var_1_178515039 1 178515039 [A/G] NR_033186 C1orf220 Silent exm-rs4650994 1 178515312 [A/G] NR_033186 C1orf220 Silent rs4650996 1 178517365 [A/G] NR_033186 C1orf220 EXON Silent rs4233175 1 178517591 [A/G] NR_033186 C1orf220 EXON Silent exm2265060 1 178518008 [A/G] NR_033186 C1orf220 EXON Silent rs12046110 1 178531117 [A/G] rs4650999 1 178532188 [T/G] rs4651000 1 178532223 [A/G] rs2492279 1 178553480 [T/G] rs2493856 1 178563987 [T/G] rs6425489 1 178569136 [A/G] rs2811301 1 178594196 [T/C] rs10913584 1 178605501 [T/C] rs7552657 1 178617359 [A/C] rs2811314 1 178619183 [A/G] exm2250322 1 178620601 [T/G] rs2761476 1 178625499 [A/G] rs10798625 1 178633373 [A/G] rs4652309 1 178641945 [T/G] rs2773091 1 178657616 [T/C] rs3922812 1 178659933 [A/G] rs6425496 1 178661629 [T/C] rs12045804 1 178668341 [A/G] rs16853281 1 178671750 [A/G] rs867556 1 178676113 [A/G] rs1018669 1 178687459 [A/C] rs4652319 1 178709966 [T/C] NM_001286247,NM_152663 RALGPS2,RALGPS2 Silent,Silent rs6425500 1 178718256 [T/C] NM_001286247,NM_152663 RALGPS2,RALGPS2 Silent,Silent rs6693283 1 178740427 [A/C] NM_001286247,NM_152663 RALGPS2,RALGPS2 Silent,Silent variant.8644 1 178753657 [A/G] NM_001286247,NM_152663 RALGPS2,RALGPS2 EXON Synonymous_A54A,Synonymous_A54A rs16853350 1 178765148 [T/G] NM_001286247,NM_152663 RALGPS2,RALGPS2 Silent,Silent exm1739095 1 178777231 [A/C] NM_001286247,NM_152663 RALGPS2,RALGPS2 EXON Missense_N89H,Missense_N89H rs3766642 1 178813531 [A/G] NM_001286247,NM_152663 RALGPS2,RALGPS2 Silent,Silent rs16853405 1 178817723 [T/G] NM_001286247,NM_152663 RALGPS2,RALGPS2 Silent,Silent exm126588 1 178820271 [A/G] NM_001286247,NM_152663,NM_004673 RALGPS2,RALGPS2,ANGPTL1 EXON Silent,Silent,Missense_I490T indel.8645 1 178821967 [I/D] NM_001286247,NM_152663,NM_004673 RALGPS2,RALGPS2,ANGPTL1 EXON exm126601 1 178822061 [A/G] NM_001286247,NM_152663,NM_004673 RALGPS2,RALGPS2,ANGPTL1 EXON Silent,Silent,Missense_Y349H variant.8647 1 178822089 [A/C] NM_001286247,NM_152663,NM_004673 RALGPS2,RALGPS2,ANGPTL1 Silent,Silent,Silent exm126609 1 178822919 [C/G] NM_001286247,NM_152663,NM_004673 RALGPS2,RALGPS2,ANGPTL1 EXON Silent,Silent,Missense_P276R rs10913634 1 178826282 [A/G] NM_001286247,NM_152663,NM_004673 RALGPS2,RALGPS2,ANGPTL1 Silent,Silent,Silent exm126611 1 178834112 [A/G] NM_001286247,NM_152663,NM_004673 RALGPS2,RALGPS2,ANGPTL1 EXON Silent,Silent,Missense_P267L exm126612 1 178834146 [T/C] NM_001286247,NM_152663,NM_004673 RALGPS2,RALGPS2,ANGPTL1 EXON Silent,Silent,Missense_A256T exm126615 1 178834155 [A/G] NM_001286247,NM_152663,NM_004673 RALGPS2,RALGPS2,ANGPTL1 EXON Silent,Silent,Missense_P253S indel.8649 1 178834223 [I/D] NM_001286247,NM_152663,NM_004673 RALGPS2,RALGPS2,ANGPTL1 EXON indel.8651 1 178834246 [D/I] NM_001286247,NM_152663,NM_004673 RALGPS2,RALGPS2,ANGPTL1 EXON exm1739119 1 178834248 [C/G] NM_001286247,NM_152663,NM_004673 RALGPS2,RALGPS2,ANGPTL1 EXON Silent,Silent,Missense_H222D newrs137965572 1 178834317 [A/G] NM_001286247,NM_152663,NM_004673 RALGPS2,RALGPS2,ANGPTL1 EXON Silent,Silent,Nonsense_Q199X indel.8653 1 178834706 [I/D] NM_001286247,NM_152663,NM_004673 RALGPS2,RALGPS2,ANGPTL1 EXON exm126648 1 178834853 [A/T] NM_001286247,NM_152663,NM_004673 RALGPS2,RALGPS2,ANGPTL1 EXON Silent,Silent,Missense_H20L exm126652 1 178834901 [A/G] NM_001286247,NM_152663,NM_004673 RALGPS2,RALGPS2,ANGPTL1 EXON Silent,Silent,Missense_F4S rs6696204 1 178841980 [A/G] NM_001286247,NM_152663 RALGPS2,RALGPS2 Silent,Silent exm126656 1 178846699 [A/G] NM_001286247,NM_152663 RALGPS2,RALGPS2 EXON Missense_N225S,Missense_N225S rs3766637 1 178848223 [A/G] NM_001286247,NM_152663 RALGPS2,RALGPS2 Silent,Silent exm126661 1 178852647 [A/G] NM_001286247,NM_152663 RALGPS2,RALGPS2 EXON Missense_A295T,Missense_A295T exm126666 1 178854226 [T/C] NM_001286247,NM_152663 RALGPS2,RALGPS2 EXON Missense_A307V,Missense_A307V exm126672 1 178854330 [T/C] NM_001286247,NM_152663 RALGPS2,RALGPS2 EXON Missense_H342Y,Missense_H342Y variant.8656 1 178861408 [T/C] NM_001286247,NM_152663 RALGPS2,RALGPS2 EXON Silent,Nonsense_R431X newrs140033977 1 178861420 [T/C] NM_001286247,NM_152663 RALGPS2,RALGPS2 EXON Silent,Nonsense_R435X variant.8659 1 178866891 [T/C] NM_001286247,NM_152663 RALGPS2,RALGPS2 EXON Synonymous_H482H,Synonymous_H508H rs871631 1 178903637 [A/G] rs6425507 1 178922451 [A/C] rs7522133 1 178927427 [T/C] rs10913665 1 178945967 [T/C] rs4652341 1 178956553 [T/C] rs1012066 1 178964604 [A/G] rs6697180 1 178967229 [T/C] rs997419 1 178967996 [A/G] rs12725164 1 178984086 [T/C] rs3813638 1 178994644 [T/C] rs6425513 1 179006462 [A/G] NM_001324310,NM_014864,NM_001324311 FAM20B,FAM20B,FAM20B Silent,Silent,Silent exm126701 1 179013058 [A/G] NM_001324310,NM_014864,NM_001324311 FAM20B,FAM20B,FAM20B EXON Missense_D26N,Missense_D26N,Missense_D26N exm126710 1 179013283 [A/G] NM_001324310,NM_014864,NM_001324311 FAM20B,FAM20B,FAM20B EXON Missense_V101M,Missense_V101M,Missense_V101M exm126711 1 179013321 [A/G] NM_001324310,NM_014864,NM_001324311 FAM20B,FAM20B,FAM20B EXON Missense_I113M,Missense_I113M,Missense_I113M rs3766636 1 179016398 [A/C] NM_001324310,NM_014864,NM_001324311 FAM20B,FAM20B,FAM20B Silent,Silent,Silent rs3766635 1 179016483 [T/C] NM_001324310,NM_014864,NM_001324311 FAM20B,FAM20B,FAM20B Silent,Silent,Silent variant.8661 1 179035994 [T/C] NM_001324310,NM_014864,NM_001324311 FAM20B,FAM20B,FAM20B EXON Missense_I333T,Missense_I333T,Missense_I333T exm126743 1 179041101 [A/T] NM_001324310,NM_014864,NM_001324311 FAM20B,FAM20B,FAM20B EXON Missense_K351M,Missense_K351M,Missense_K351M exm126746 1 179041137 [T/C] NM_001324310,NM_014864,NM_001324311 FAM20B,FAM20B,FAM20B EXON Missense_I363T,Missense_I363T,Missense_I363T rs16853619 1 179043939 [A/G] NM_001324310,NM_014864,NM_001324311 FAM20B,FAM20B,FAM20B EXON Silent,Silent,Silent exm126759 1 179051300 [T/C] NM_022371 TOR3A EXON Missense_F13L exm126770 1 179051508 [T/C] NM_022371 TOR3A EXON Missense_A82V exm126776 1 179052079 [C/G] NM_022371 TOR3A EXON Missense_W88C newrs149563285 1 179052127 [A/G] NM_022371 TOR3A EXON Nonsense_W104X exm126782 1 179052127 [A/G] NM_022371 TOR3A EXON Nonsense_W104X exm126790 1 179054810 [T/C] NM_022371 TOR3A EXON Nonsense_Q141X exm126793 1 179054888 [A/G] NM_022371 TOR3A EXON Missense_G167S exm126804 1 179055029 [A/G] NM_022371 TOR3A Silent rs16853647 1 179062497 [A/G] NM_022371 TOR3A Silent exm1739174 1 179063231 [A/T] NM_022371 TOR3A EXON Missense_N274K indel.8672 1 179063280 [D/I] NM_022371 TOR3A EXON var_1_179063352 1 179063353 [I/D] NM_022371 TOR3A variant.8674 1 179063357 [A/G] NM_022371 TOR3A Silent exm126823 1 179064123 [T/C] NM_022371 TOR3A EXON Missense_R322C exm126824 1 179064124 [A/G] NM_022371 TOR3A EXON Missense_R322H exm126826 1 179064142 [T/A] NM_022371 TOR3A EXON Missense_L328Q exm126827 1 179064145 [T/C] NM_022371 TOR3A EXON Missense_I329T exm126830 1 179064180 [T/C] NM_022371 TOR3A EXON Missense_R341C indel.8675 1 179064233 [D/I] NM_022371 TOR3A EXON indel.8676 1 179064250 [I/D] NM_022371 TOR3A EXON exm126839 1 179064279 [A/C] NM_022371 TOR3A EXON Missense_P374T rs1128952 1 179065125 [T/C] NM_022371 TOR3A EXON Silent rs3829794 1 179072728 [T/C] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm126857 1 179077109 [T/C] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_S995N,Missense_S959N,Missense_S1098N,Missense_S1077N,Missense_S1083N,Missense_S974N,Missense_S980N exm1739182 1 179077223 [T/C] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_N957S,Missense_N921S,Missense_N1060S,Missense_N1039S,Missense_N1045S,Missense_N936S,Missense_N942S exm2231943 1 179077337 [T/C] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_G919E,Missense_G883E,Missense_G1022E,Missense_G1001E,Missense_G1007E,Missense_G898E,Missense_G904E exm126869 1 179077415 [G/C] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_P893R,Missense_P857R,Missense_P996R,Missense_P975R,Missense_P981R,Missense_P872R,Missense_P878R exm126875 1 179077566 [T/C] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_V843M,Missense_V807M,Missense_V946M,Missense_V925M,Missense_V931M,Missense_V822M,Missense_V828M exm126876 1 179077613 [T/C] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_K827R,Missense_K791R,Missense_K930R,Missense_K909R,Missense_K915R,Missense_K806R,Missense_K812R exm126880 1 179077689 [T/G] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_P802T,Missense_P766T,Missense_P905T,Missense_P884T,Missense_P890T,Missense_P781T,Missense_P787T exm126895 1 179078052 [T/A] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Silent,Silent,Missense_T784S,Missense_T763S,Missense_T769S,Silent,Silent exm126908 1 179078344 [A/C] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Synonymous_T686T,Synonymous_T650T,Synonymous_T686T,Synonymous_T665T,Synonymous_T671T,Synonymous_T665T,Synonymous_T671T variant.8677 1 179078385 [A/G] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Nonsense_R673X,Nonsense_R637X,Nonsense_R673X,Nonsense_R652X,Nonsense_R658X,Nonsense_R652X,Nonsense_R658X exm126913 1 179078409 [T/G] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_P665T,Missense_P629T,Missense_P665T,Missense_P644T,Missense_P650T,Missense_P644T,Missense_P650T exm126916 1 179079416 [T/C] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm126917 1 179079420 [A/G] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_P608S,Missense_P572S,Missense_P608S,Missense_P587S,Missense_P593S,Missense_P587S,Missense_P593S variant.8679 1 179087825 [A/G] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Nonsense_R374X,Nonsense_R338X,Nonsense_R374X,Nonsense_R353X,Nonsense_R359X,Nonsense_R353X,Nonsense_R359X,Nonsense_R353X exm126946 1 179087875 [A/C] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_F357C,Missense_F321C,Missense_F357C,Missense_F336C,Missense_F342C,Missense_F336C,Missense_F342C,Missense_F336C rs9728480 1 179089491 [A/C] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.8681 1 179095757 [D/I] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON variant.8682 1 179100441 [T/C] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2250324 1 179100501 [A/G] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Synonymous_F112F,Synonymous_F76F,Synonymous_F112F,Synonymous_F91F,Synonymous_F97F,Synonymous_F91F,Synonymous_F97F,Synonymous_F91F exm126967 1 179100545 [T/C] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_K98E,Missense_K62E,Missense_K98E,Missense_K77E,Missense_K83E,Missense_K77E,Missense_K83E,Missense_K77E exm126969 1 179100604 [T/C] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_R78H,Missense_R42H,Missense_R78H,Missense_R57H,Missense_R63H,Missense_R57H,Missense_R63H,Missense_R57H rs2636287 1 179103701 [T/C] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm126979 1 179112145 [G/C] NM_001168237,NM_001168239,NM_007314,NM_001168236,NM_005158,NM_001168238,NM_001136000,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Silent,Missense_S12T,Silent,Silent,Missense_S12T,Silent,Missense_S12T,Silent rs6668200 1 179121280 [A/G] NM_001168237,NM_007314,NM_001168236,NM_001168238,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2 Silent,Silent,Silent,Silent,Silent rs6672395 1 179130359 [T/C] NM_001168237,NM_007314,NM_001168236,NM_001168238,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2 Silent,Silent,Silent,Silent,Silent rs2636293 1 179153697 [A/G] NM_001168237,NM_007314,NM_001168236,NM_001168238,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2 Silent,Silent,Silent,Silent,Silent exm2263840 1 179158614 [A/C] NM_001168237,NM_007314,NM_001168236,NM_001168238,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2 Silent,Silent,Silent,Silent,Silent rs2636266 1 179199652 [A/G] rs451088 1 179222840 [A/C] rs2783387 1 179236814 [A/G] rs2493117 1 179255957 [T/C] rs2265932 1 179267783 [T/G] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent exm126990 1 179271826 [A/G] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Silent,Silent,Missense_G3S variant.8683 1 179271913 [T/G] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Silent,Silent,Nonsense_E32X exm126993 1 179271916 [A/T] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Silent,Silent,Missense_S33T rs10913713 1 179275259 [A/G] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent rs12022539 1 179275579 [T/C] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent exm1739249 1 179292574 [T/C] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Silent,Silent,Nonsense_R41X rs7531307 1 179302003 [A/G] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent newrs148646476 1 179307032 [T/G] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent variant.8685 1 179308681 [A/G] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent exm127016 1 179310275 [C/G] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Missense_Q139E,Missense_Q146E,Missense_Q204E exm127019 1 179310332 [T/C] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Missense_H158Y,Missense_H165Y,Missense_H223Y exm127020 1 179310348 [T/C] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Missense_M163T,Missense_M170T,Missense_M228T exm127021 1 179310383 [A/G] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Missense_T175A,Missense_T182A,Missense_T240A exm127030 1 179312009 [T/C] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Missense_I226T,Missense_I233T,Missense_I291T rs4651024 1 179312102 [T/C] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent rs10913728 1 179312235 [A/G] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent rs10753191 1 179312752 [T/C] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Synonymous_V258V,Synonymous_V265V,Synonymous_V323V exm127049 1 179314143 [A/G] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Missense_R285Q,Missense_R292Q,Missense_R350Q variant.8689 1 179314216 [T/C] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent rs13306729 1 179316687 [A/G] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent exm127054 1 179316801 [T/C] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Missense_M330T,Missense_M337T,Missense_M395T variant.8690 1 179319566 [A/C] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Missense_M419L,Missense_M426L,Missense_M484L rs3753527 1 179319580 [T/C] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent exm127073 1 179320578 [A/G] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Missense_Q461R,Missense_Q468R,Missense_Q526R indel.8691 1 179320587 [I/D] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON variant.8692 1 179320597 [T/C] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Synonymous_N467N,Synonymous_N474N,Synonymous_N532N exm127077 1 179322763 [A/G] NR_045530,NM_001252512,NM_001252511,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Missense_R482H,Missense_R489H,Missense_R547H rs10913736 1 179335366 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent indel.8693 1 179335710 [I/D] NM_144696,NR_073544 AXDND1,AXDND1 EXON exm127088 1 179338046 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_A70V,Silent exm127089 1 179338048 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_A71T,Silent exm127091 1 179339113 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_T92A,Silent variant.8695 1 179339155 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Nonsense_R106X,Silent rs10798674 1 179347832 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Synonymous_V145V,Silent exm127101 1 179347845 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_L150V,Silent exm1739317 1 179352607 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_Q223H,Silent exm127111 1 179352631 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_M231I,Silent exm127112 1 179352648 [A/T] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_V237E,Silent newrs149782250 1 179354442 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Nonsense_R271X,Silent exm127118 1 179354495 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs12749461 1 179356378 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs4297245 1 179361178 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent exm127124 1 179363111 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Nonsense_R313X,Silent exm127125 1 179363114 [G/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_V314L,Silent newrs148772825 1 179363138 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Nonsense_E322X,Silent exm127127 1 179363143 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_L323F,Silent rs4606280 1 179363954 [A/C] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent exm127129 1 179364256 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_H343R,Silent variant.8701 1 179364337 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_K370R,Silent rs4651025 1 179371973 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs4652380 1 179396444 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent exm127136 1 179398684 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_R421K,Silent exm127137 1 179398726 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_K435R,Silent indel.8703 1 179398755 [I/D] NM_144696,NR_073544 AXDND1,AXDND1 rs7555722 1 179399253 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs6659294 1 179404013 [A/C] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent exm127154 1 179414105 [A/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_I522L,Silent exm127160 1 179414262 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_R574L,Silent exm127162 1 179414328 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_N596S,Silent rs4130266 1 179415532 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs12740455 1 179426390 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs12725126 1 179427632 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent variant.8707 1 179437596 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_P606L,Silent exm127168 1 179437659 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_T627M,Silent exm127170 1 179437777 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs10494519 1 179452381 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs962429 1 179452695 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs2225213 1 179458821 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent indel.8710 1 179460786 [I/D] NM_144696,NR_073544 AXDND1,AXDND1 EXON exm127185 1 179460806 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_A742V,Silent exm127194 1 179462017 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_M773I,Silent indel.8711 1 179462040 [D/I] NM_144696,NR_073544 AXDND1,AXDND1 EXON exm1739369 1 179462067 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_Y790C,Silent variant.8712 1 179462086 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Synonymous_K796K,Silent exm-rs12047808 1 179469314 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs10913801 1 179471750 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs1329276 1 179473513 [A/C] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs1928004 1 179474053 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent variant.8714 1 179478511 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Nonsense_Y823X,Silent exm127198 1 179478525 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_R828Q,Silent rs10913805 1 179479012 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs10913807 1 179479803 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs7551440 1 179492085 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent indel.8715 1 179494467 [I/D] NM_144696,NR_073544 AXDND1,AXDND1 exm127202 1 179494574 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_A868T,Silent rs11805319 1 179496779 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent 1KG_1_179503892 1 179503892 [D/I] NM_144696,NR_073544 AXDND1,AXDND1 EXON exm127210 1 179503909 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_D948G,Silent exm127211 1 179503911 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_A949T,Silent exm127219 1 179504040 [C/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_Q992E,Silent exm127220 1 179504043 [C/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_Q993E,Silent exm127222 1 179504070 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Nonsense_E1002X,Silent rs2296960 1 179514777 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs10913815 1 179516738 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs2274622 1 179520050 [T/C] NM_144696,NR_073544,NM_001297575,NM_014625 AXDND1,AXDND1,NPHS2,NPHS2 EXON Silent,Silent,Silent,Silent rs2274623 1 179520108 [T/C] NM_144696,NR_073544,NM_001297575,NM_014625 AXDND1,AXDND1,NPHS2,NPHS2 EXON Silent,Silent,Silent,Silent rs1410592 1 179520506 [A/G] NM_144696,NR_073544,NM_001297575,NM_014625 AXDND1,AXDND1,NPHS2,NPHS2 EXON Silent,Silent,Synonymous_A250A,Synonymous_A318A exm127242 1 179521794 [A/C] NM_144696,NR_073544,NM_001297575,NM_014625 AXDND1,AXDND1,NPHS2,NPHS2 EXON Silent,Silent,Missense_G205W,Missense_G273W newrs61747727 1 179526175 [A/G] NM_001297575,NM_014625 NPHS2,NPHS2 EXON Silent,Missense_A242V exm127251 1 179526214 [T/C] NM_001297575,NM_014625 NPHS2,NPHS2 EXON Silent,Missense_R229Q exm127254 1 179526278 [T/C] NM_001297575,NM_014625 NPHS2,NPHS2 EXON Silent,Missense_A208T newrs74315347 1 179526362 [T/C] NM_001297575,NM_014625 NPHS2,NPHS2 EXON Silent,Missense_V180M exm127263 1 179530462 [T/C] NM_001297575,NM_014625 NPHS2,NPHS2 EXON Missense_R138Q,Missense_R138Q exm127281 1 179544941 [A/G] NM_001297575,NM_014625 NPHS2,NPHS2 EXON Missense_P20L,Missense_P20L rs3930537 1 179553724 [A/G] rs6691184 1 179560154 [T/G] exm127291 1 179561901 [T/C] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_R51W,Missense_R51W,Missense_R51W,Missense_R51W,Missense_R51W exm127299 1 179562673 [T/C] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_M104T,Missense_M104T,Missense_M104T,Missense_M104T,Missense_M104T rs12070589 1 179562707 [A/G] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Synonymous_P115P,Synonymous_P115P,Synonymous_P115P,Synonymous_P115P,Synonymous_P115P exm127303 1 179562740 [C/G] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_R126S,Missense_R126S,Missense_R126S,Missense_R126S,Missense_R126S exm127305 1 179562792 [A/G] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_A144T,Missense_A144T,Missense_A144T,Missense_A144T,Missense_A144T exm127320 1 179564837 [T/G] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_F239V,Missense_F239V,Missense_F239V,Missense_F239V,Missense_F239V exm1739442 1 179564849 [A/G] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_T243A,Missense_T243A,Missense_T243A,Missense_T243A,Missense_T243A rs1410594 1 179583165 [A/G] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 Silent,Silent,Silent,Silent,Silent,Silent exm127326 1 179587765 [A/G] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_Q288R,Missense_Q288R,Missense_Q288R,Missense_Q288R,Missense_Q288R,Silent rs4610966 1 179598179 [A/G] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 Silent,Silent,Silent,Silent,Silent,Silent exm127334 1 179600001 [A/G] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_K358E,Missense_K358E,Missense_K358E,Missense_K358E,Missense_K358E,Silent exm127341 1 179603702 [A/C] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_Q413K,Missense_Q413K,Missense_Q413K,Missense_Q413K,Missense_Q413K,Silent exm127354 1 179604992 [T/A] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_E497V,Missense_E497V,Missense_E497V,Missense_E497V,Missense_E497V,Missense_E52V variant.8730 1 179605022 [A/G] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_R507Q,Missense_R507Q,Missense_R507Q,Missense_R507Q,Missense_R507Q,Missense_R62Q indel.8731 1 179609187 [D/I] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 exm127368 1 179609549 [T/C] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_P590L,Missense_P590L,Missense_P590L,Missense_P590L,Missense_P590L,Missense_P145L rs11806102 1 179611021 [T/C] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 Silent,Silent,Silent,Silent,Silent,Silent exm127375 1 179620047 [A/G] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_G616S,Missense_G616S,Missense_G616S,Missense_G616S,Missense_G616S,Missense_G171S exm127380 1 179621253 [T/G] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_G694V,Missense_G694V,Missense_G694V,Missense_G694V,Missense_G694V,Missense_G249V exm127384 1 179631242 [A/G] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_E722K,Missense_E722K,Missense_E776K,Missense_E722K,Missense_E776K,Missense_E277K exm127388 1 179631329 [T/A] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_M751L,Missense_M751L,Missense_M805L,Missense_M751L,Missense_M805L,Missense_M306L exm2231948 1 179632583 [T/C] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_L815P,Missense_L815P,Missense_L869P,Missense_L815P,Missense_L869P,Missense_L370P rs12035247 1 179633040 [A/G] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 Silent,Silent,Silent,Silent,Silent,Silent exm127405 1 179638476 [A/T] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_S879T,Missense_S879T,Missense_S933T,Missense_S879T,Missense_S933T,Missense_S434T exm127407 1 179638518 [A/G] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 EXON Missense_A893T,Missense_A893T,Missense_A947T,Missense_A893T,Missense_A947T,Missense_A448T rs4651045 1 179638838 [A/G] NM_173533,NM_001199091,NM_001199089,NM_001349923,NM_001199085,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 Silent,Silent,Silent,Silent,Silent,Silent exm2264925 1 179687259 [A/G] rs10913870 1 179687646 [T/C] rs2504033 1 179703019 [T/G] NM_001329713,NR_138088,NM_001329714,NR_138087,NM_001329715,NR_138090,NM_001329716 FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2454190 1 179705637 [T/C] NM_001329713,NR_138088,NM_001329714,NR_138087,NM_001329715,NR_138090,NM_001329716 FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1052447 1 179711649 [T/G] NM_001329713,NR_138088,NM_001329714,NR_138087,NM_001329715,NR_138090,NM_001329716,NR_138086 FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2245195 1 179716507 [T/C] NM_001329713,NR_138088,NM_001329714,NR_138087,NM_001329715,NM_001329716,NM_001329712,NR_138089,NM_173509,NM_001329717,NM_001329718,NM_001329719 FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2487742 1 179727752 [T/C] NM_001329713,NR_138088,NM_001329714,NR_138087,NM_001329715,NM_001329716,NM_001329712,NR_138089,NM_173509,NM_001329717,NM_001329718,NM_001329719 FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2454199 1 179729554 [A/G] NM_001329713,NR_138088,NM_001329714,NR_138087,NM_001329715,NM_001329716,NM_001329712,NR_138089,NM_173509,NM_001329717,NM_001329718,NM_001329719 FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2318393 1 179735387 [A/C] NM_001329713,NR_138088,NM_001329714,NR_138087,NM_001329715,NM_001329716,NM_001329712,NR_138089,NM_173509,NM_001329717,NM_001329718,NM_001329719 FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7514717 1 179745671 [T/C] NM_001329713,NR_138088,NM_001329714,NR_138087,NM_001329715,NM_001329716,NM_001329712,NR_138089,NM_173509,NM_001329717,NM_001329718,NM_001329719 FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6680679 1 179753147 [A/G] NM_001329713,NR_138088,NM_001329714,NR_138087,NM_001329715,NM_001329716,NM_001329712,NR_138089,NM_173509,NM_001329717,NM_001329718,NM_001329719 FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10913888 1 179757536 [A/G] NM_001329713,NR_138088,NM_001329714,NR_138087,NM_001329715,NM_001329716,NM_001329712,NR_138089,NM_173509,NM_001329717,NM_001329718,NM_001329719 FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12756748 1 179757855 [T/G] NM_001329713,NR_138088,NM_001329714,NR_138087,NM_001329715,NM_001329716,NM_001329712,NR_138089,NM_173509,NM_001329717,NM_001329718,NM_001329719 FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2647225 1 179770256 [T/C] NM_001329713,NR_138088,NM_001329714,NR_138087,NM_001329715,NM_001329716,NM_001329712,NR_138089,NM_173509,NM_001329717,NM_001329718,NM_001329719 FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2777920 1 179776841 [A/G] NM_001329713,NR_138088,NM_001329714,NR_138087,NM_001329715,NM_001329716,NM_001329712,NR_138089,NM_173509,NM_001329717,NM_001329718,NM_001329719 FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1739514 1 179783142 [C/G] NM_001329713,NM_001329714,NM_001329715,NM_001329716,NM_001329712,NM_173509,NM_001329717,NM_001329718,NM_001329719 FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A EXON Missense_R108G,Missense_R108G,Missense_R108G,Missense_R108G,Missense_R108G,Missense_R108G,Missense_R108G,Missense_R108G,Missense_R108G exm127440 1 179783167 [T/G] NM_001329713,NM_001329714,NM_001329715,NM_001329716,NM_001329712,NM_173509,NM_001329717,NM_001329718,NM_001329719 FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A EXON Missense_G116V,Missense_G116V,Missense_G116V,Missense_G116V,Missense_G116V,Missense_G116V,Missense_G116V,Missense_G116V,Missense_G116V exm1739515 1 179783220 [C/G] NM_001329713,NM_001329714,NM_001329715,NM_001329716,NM_001329712,NM_173509,NM_001329717,NM_001329718,NM_001329719 FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A,FAM163A EXON Missense_P134A,Missense_P134A,Missense_P134A,Missense_P134A,Missense_P134A,Missense_P134A,Missense_P134A,Missense_P134A,Missense_P134A rs12118565 1 179788333 [T/C] rs1148821 1 179795505 [T/C] rs1281411 1 179814457 [A/C] NM_001349937,NM_001349934,NM_001349936,NM_001349935,NM_001199260,NM_145034 TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2 EXON Silent,Silent,Silent,Silent,Silent,Silent variant.8734 1 179815226 [A/C] NM_001349937,NM_001349934,NM_001349936,NM_001349935,NM_001199260,NM_145034 TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2 EXON Nonsense_E465X,Nonsense_E465X,Nonsense_E465X,Nonsense_E465X,Nonsense_E465X,Nonsense_E465X exm1739523 1 179815307 [A/T] NM_001349937,NM_001349934,NM_001349936,NM_001349935,NM_001199260,NM_145034 TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2 EXON Missense_M438L,Missense_M438L,Missense_M438L,Missense_M438L,Missense_M438L,Missense_M438L indel.8736 1 179815331 [I/D] NM_001349937,NM_001349934,NM_001349936,NM_001349935,NM_001199260,NM_145034 TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2 EXON exm127487 1 179820031 [T/C] NM_001349937,NM_001349934,NM_001349936,NM_001349935,NM_001199260,NM_145034 TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2 EXON Missense_S168G,Missense_S168G,Missense_S168G,Missense_S168G,Missense_S168G,Missense_S168G exm127496 1 179820243 [T/C] NM_001349937,NM_001349934,NM_001349936,NM_001349935,NM_001199260,NM_145034 TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2 EXON Missense_G97D,Missense_G97D,Missense_G97D,Missense_G97D,Missense_G97D,Missense_G97D exm127499 1 179820343 [A/C] NM_001349937,NM_001349934,NM_001349936,NM_001349935,NM_001199260,NM_145034 TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2 EXON Missense_A64S,Missense_A64S,Missense_A64S,Missense_A64S,Missense_A64S,Missense_A64S exm127502 1 179820394 [A/G] NM_001349937,NM_001349934,NM_001349936,NM_001349935,NM_001199260,NM_145034 TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2 EXON Missense_C47R,Missense_C47R,Missense_C47R,Missense_C47R,Missense_C47R,Missense_C47R exm127511 1 179833929 [T/C] NM_001349937,NM_001349934,NM_001349936,NM_001349935,NM_001199260,NM_145034,NM_001349931,NM_001349933,NM_022347 TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G128D,Missense_G128D,Missense_G128D rs7411457 1 179841753 [T/C] NM_001349937,NM_001349934,NM_001349936,NM_001349935,NM_001199260,NM_145034,NM_001349931,NM_022347 TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2,TOR1AIP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm127522 1 179851642 [T/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_A2V,Missense_A2V exm127533 1 179851792 [A/T] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_Q52L,Missense_Q52L exm127544 1 179851998 [A/G] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_E121K,Missense_E121K exm127546 1 179852010 [G/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_R125G,Missense_R125G exm127550 1 179852065 [T/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_S143F,Missense_S143F rs1281378 1 179852074 [T/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_M146T,Missense_M146T exm127551 1 179852074 [T/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_M146T,Missense_M146T exm1739572 1 179853844 [G/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_Q165E,Missense_Q165E newrs2245425 1 179858444 [A/G] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 Silent,Silent rs7530362 1 179861042 [T/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 Silent,Silent variant.8741 1 179869296 [T/G] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Nonsense_E217X,Nonsense_E216X exm127577 1 179876957 [T/G] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 Silent,Silent rs609521 1 179876988 [G/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_P277R,Missense_P276R exm127579 1 179876988 [G/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_P277R,Missense_P276R exm127581 1 179877780 [A/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_Q294H,Missense_Q293H exm127584 1 179883134 [T/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Synonymous_N304N,Synonymous_N303N newrs11581962 1 179883186 [T/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Nonsense_R322X,Nonsense_R321X var_1_179883189 1 179883189 [T/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Nonsense_Q323X,Nonsense_Q322X exm127588 1 179883190 [A/G] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 Silent,Silent exm127595 1 179886769 [A/G] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_D384N,Missense_D383N exm127608 1 179887049 [T/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_A477V,Missense_A476V newrs138345857 1 179887078 [A/G] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_A487T,Missense_A486T rs539181 1 179900199 [A/C] rs561233 1 179906900 [A/G] rs12124175 1 179929388 [A/C] NM_014810 CEP350 Silent rs10913918 1 179942388 [T/C] NM_014810 CEP350 Silent indel.8747 1 179956393 [D/I] NM_014810 CEP350 EXON exm127625 1 179959724 [G/C] NM_014810 CEP350 EXON Missense_S68C exm127626 1 179959750 [A/G] NM_014810 CEP350 EXON Missense_R77G exm127630 1 179961257 [A/G] NM_014810 CEP350 EXON Missense_R99Q rs2501615 1 179964879 [A/G] NM_014810 CEP350 Silent variant.8748 1 179965686 [A/C] NM_014810 CEP350 Silent exm127641 1 179965828 [A/G] NM_014810 CEP350 EXON Missense_C179Y exm127642 1 179965861 [A/G] NM_014810 CEP350 EXON Missense_N190S exm1739607 1 179965908 [T/A] NM_014810 CEP350 EXON Missense_L206M exm127646 1 179965962 [A/G] NM_014810 CEP350 EXON Missense_E224K exm127650 1 179966044 [T/C] NM_014810 CEP350 EXON Missense_A251V exm127656 1 179966115 [T/C] NM_014810 CEP350 EXON Missense_R275W newrs138545141 1 179972335 [T/C] NM_014810 CEP350 EXON Nonsense_R349X exm127675 1 179981087 [A/T] NM_014810 CEP350 EXON Missense_S424T 1KG_1_179983136 1 179983136 [I/D] NM_014810 CEP350 EXON exm127684 1 179983153 [A/G] NM_014810 CEP350 EXON Missense_D522G exm127685 1 179983164 [A/G] NM_014810 CEP350 EXON Missense_I526V exm1739626 1 179983195 [A/T] NM_014810 CEP350 EXON Missense_Q536L exm127707 1 179989230 [A/G] NM_014810 CEP350 EXON Missense_D774G exm127711 1 179989296 [G/C] NM_014810 CEP350 EXON Missense_P796R exm127715 1 179989362 [A/G] NM_014810 CEP350 EXON Missense_Y818C exm127720 1 179989560 [T/A] NM_014810 CEP350 EXON Missense_D884V exm127721 1 179989584 [G/C] NM_014810 CEP350 EXON Missense_R892T exm127737 1 179990027 [A/C] NM_014810 CEP350 EXON Missense_P1040T exm127746 1 179991860 [T/C] NM_014810 CEP350 EXON Missense_T1088I exm127753 1 179993559 [T/C] NM_014810 CEP350 EXON Missense_T1131I rs7521948 1 179995975 [A/G] NM_014810 CEP350 Silent exm127759 1 180000542 [T/G] NM_014810 CEP350 EXON Missense_G1213V exm127760 1 180000562 [A/G] NM_014810 CEP350 EXON Missense_V1220I exm127761 1 180000578 [A/G] NM_014810 CEP350 EXON Missense_Q1225R exm127766 1 180003055 [A/T] NM_014810 CEP350 EXON Missense_S1262T exm127769 1 180003120 [A/G] NM_014810 CEP350 EXON Missense_M1283I exm127779 1 180006126 [A/G] NM_014810 CEP350 EXON Missense_A1338T exm127786 1 180010349 [A/G] NM_014810 CEP350 EXON Missense_R1396K exm127790 1 180010837 [A/G] NM_014810 CEP350 EXON Missense_R1421Q exm127796 1 180010903 [A/G] NM_014810 CEP350 EXON Missense_R1443H exm127797 1 180010911 [A/G] NM_014810 CEP350 EXON Missense_T1446A rs16855164 1 180010911 [A/G] NM_014810 CEP350 EXON Missense_T1446A exm127798 1 180010912 [T/C] NM_014810 CEP350 EXON Missense_T1446I exm127799 1 180012213 [A/G] NM_014810 CEP350 EXON Missense_H1462R exm127801 1 180012272 [T/C] NM_014810 CEP350 EXON Missense_R1482W exm127808 1 180013235 [T/G] NM_014810 CEP350 EXON Missense_S1517A exm127809 1 180013308 [A/G] NM_014810 CEP350 EXON Missense_R1541K exm127832 1 180031368 [T/G] NM_014810 CEP350 EXON Missense_R1759L exm127835 1 180031395 [A/G] NM_014810 CEP350 EXON Missense_R1768Q exm127839 1 180034271 [A/G] NM_014810 CEP350 EXON Missense_T1811A exm127841 1 180034280 [A/C] NM_014810 CEP350 EXON Missense_N1814H rs6692394 1 180037987 [A/G] NM_014810 CEP350 Silent exm127848 1 180044254 [A/G] NM_014810 CEP350 EXON Missense_I1889V exm127849 1 180044257 [T/C] NM_014810 CEP350 EXON Missense_R1890C exm127850 1 180044304 [A/G] NM_014810 CEP350 EXON Missense_I1905M exm127857 1 180047713 [A/G] NM_014810 CEP350 EXON Missense_I1961M exm127862 1 180049723 [T/A] NM_014810 CEP350 EXON Missense_Q2017H exm127866 1 180053158 [A/C] NM_014810 CEP350 EXON Missense_T2044P exm127888 1 180061976 [G/C] NM_014810 CEP350 EXON Missense_D2246H exm1739701 1 180062079 [T/A] NM_014810 CEP350 EXON Missense_K2280I exm127901 1 180062369 [A/G] NM_014810 CEP350 EXON Missense_E2377K exm127906 1 180062586 [A/G] NM_014810 CEP350 EXON Missense_N2449S exm127907 1 180062624 [A/C] NM_014810 CEP350 EXON Missense_T2462P exm127915 1 180062747 [A/G] NM_014810 CEP350 EXON Missense_V2503M exm127918 1 180062814 [T/G] NM_014810 CEP350 EXON Missense_F2525C exm127919 1 180062822 [A/G] NM_014810 CEP350 EXON Missense_G2528R exm127928 1 180063075 [T/C] NM_014810 CEP350 EXON Missense_F2612S exm1739704 1 180063248 [A/G] NM_014810 CEP350 EXON Missense_I2670V exm127940 1 180063445 [C/G] NM_014810 CEP350 EXON Missense_K2735N variant.8753 1 180063751 [A/G] NM_014810 CEP350 EXON Synonymous_P2837P exm2273724 1 180064742 [A/G] NM_014810 CEP350 EXON Missense_A2866T exm2231962 1 180064805 [G/C] NM_014810 CEP350 EXON Missense_Q2887E exm127956 1 180065048 [A/G] NM_014810 CEP350 EXON Missense_K2968E rs12121845 1 180067988 [A/G] NM_014810 CEP350 Silent rs6425607 1 180075388 [A/G] NM_014810 CEP350 Silent rs6425609 1 180095348 [A/C] rs7551181 1 180099463 [T/C] rs6691435 1 180107859 [T/C] rs6685965 1 180110092 [T/C] rs3845391 1 180119544 [T/G] exm127974 1 180124061 [C/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_G7R,Missense_G7R rs3767196 1 180124872 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 Silent,Silent exm127982 1 180135652 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_A98T,Missense_A98T exm127987 1 180135701 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_N114S,Missense_N114S rs6703180 1 180138800 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 Silent,Silent rs3767184 1 180141367 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 Silent,Silent rs2298206 1 180145088 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Synonymous_T145T,Synonymous_T145T exm128004 1 180145132 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_T160M,Missense_T160M variant.8756 1 180147932 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Synonymous_L173L,Synonymous_L173L exm128011 1 180148012 [G/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_G200A,Missense_G200A exm128015 1 180151343 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_A214V,Missense_A214V exm128018 1 180151349 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_R216H,Missense_R216H exm128021 1 180151426 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_R242W,Missense_R242W rs3842890 1 180154776 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 Silent,Silent variant.8757 1 180155243 [T/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Nonsense_E315X,Nonsense_E315X exm128032 1 180155259 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_P320L,Missense_P320L exm128033 1 180155276 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_R326C,Missense_R326C rs3767169 1 180157593 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 Silent,Silent exm128041 1 180158729 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_V354M,Missense_V354M exm128042 1 180158740 [T/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_W357C,Missense_W357C exm128049 1 180159620 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_P398L,Missense_P398L exm128051 1 180159622 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_H399Y,Missense_H399Y exm128055 1 180159679 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_A418T,Missense_A418T rs12741050 1 180160993 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 Silent,Silent exm128059 1 180163390 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_H444R,Missense_H444R exm128062 1 180163416 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_A453T,Missense_A453T exm128065 1 180163458 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_V467M,Missense_V467M exm128070 1 180163519 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_R487H,Missense_R487H exm128080 1 180165582 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_R552W,Missense_R552W exm128086 1 180165675 [A/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_P583T,Missense_P583T rs3738115 1 180165699 [A/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_N591H,Missense_N591H exm128087 1 180165699 [A/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_N591H,Missense_N591H exm128093 1 180165742 [G/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Silent,Missense_R605P exm128101 1 180165885 [G/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Silent,Missense_A653P exm128109 1 180166002 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Silent,Missense_R692W exm128111 1 180166008 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Silent,Nonsense_R694X rs10913945 1 180169108 [T/C] NR_026900 FLJ23867 EXON Silent rs6704314 1 180171254 [T/C] rs7521602 1 180177266 [T/G] rs6697992 1 180186713 [T/G] exm128123 1 180199701 [A/G] NM_033343 LHX4 EXON Missense_V13I rs6425616 1 180201184 [A/G] NM_033343 LHX4 Silent rs7525475 1 180206814 [A/G] NM_033343 LHX4 Silent rs4652490 1 180217250 [T/C] NM_033343 LHX4 Silent rs7539244 1 180219900 [A/G] NM_033343 LHX4 Silent rs99174 1 180225664 [T/C] NM_033343 LHX4 Silent exm2264926 1 180226930 [A/G] NM_033343 LHX4 Silent exm128139 1 180235663 [A/G] NM_033343 LHX4 EXON Missense_E129K exm128146 1 180235728 [T/C] NM_033343 LHX4 EXON Synonymous_N150N rs357044 1 180239473 [T/C] NM_033343,NR_037642 LHX4,LHX4-AS1 EXON Silent,Silent exm128149 1 180240971 [T/G] NM_033343,NR_037642 LHX4,LHX4-AS1 EXON Missense_V203G,Silent exm128165 1 180243464 [A/G] NM_033343,NR_037642 LHX4,LHX4-AS1 EXON Missense_Y308C,Silent exm128173 1 180243524 [A/G] NM_033343,NR_037642 LHX4,LHX4-AS1 EXON Missense_N328S,Silent exm128179 1 180243602 [T/C] NM_033343,NR_037642 LHX4,LHX4-AS1 EXON Missense_A354V,Silent indel.8770 1 180243679 [D/I] NM_033343,NR_037642 LHX4,LHX4-AS1 EXON exm128188 1 180243702 [T/G] NM_033343,NR_037642 LHX4,LHX4-AS1 EXON Missense_H387Q,Silent exm1739832 1 180243706 [A/C] NM_033343,NR_037642 LHX4,LHX4-AS1 EXON Missense_P389T,Silent rs2764461 1 180256689 [T/G] rs16855749 1 180283265 [T/C] NM_032360 ACBD6 Silent rs6684596 1 180313672 [T/C] NM_032360 ACBD6 Silent rs17372362 1 180323689 [T/C] NM_032360 ACBD6 Silent rs6425625 1 180332045 [T/C] NM_032360 ACBD6 Silent rs4333819 1 180335264 [T/C] NM_032360 ACBD6 Silent rs4642852 1 180356025 [A/C] NM_032360 ACBD6 Silent exm128201 1 180366709 [T/C] NM_032360 ACBD6 EXON Missense_R202Q variant.8772 1 180366710 [A/G] NM_032360 ACBD6 EXON Nonsense_R202X rs7532806 1 180381923 [T/C] NM_032360 ACBD6 Silent rs6425635 1 180393514 [A/G] NM_032360 ACBD6 Silent rs16856007 1 180394157 [A/C] NM_032360 ACBD6 Silent rs7542223 1 180420271 [T/G] NM_032360 ACBD6 Silent rs10914007 1 180448546 [T/C] NM_032360 ACBD6 Silent exm128215 1 180471311 [A/G] NM_032360 ACBD6 EXON Missense_P31S rs3806301 1 180472298 [T/C] rs16856086 1 180493944 [A/G] rs4651067 1 180494062 [A/G] rs2331739 1 180495670 [T/C] rs11806607 1 180496261 [A/G] rs12039331 1 180501196 [A/G] exm2265061 1 180506038 [A/G] rs6425646 1 180510172 [T/C] rs7513944 1 180523777 [T/G] rs12562357 1 180534407 [T/C] NR_125716 OVAAL EXON Silent rs2331545 1 180535972 [A/G] rs10733006 1 180540896 [A/G] rs4652519 1 180549164 [A/G] rs7519155 1 180560692 [T/G] rs10737348 1 180561644 [A/G] rs3843276 1 180570408 [A/G] rs9970363 1 180575168 [A/G] rs16856306 1 180587744 [A/G] rs3908502 1 180591237 [T/C] rs12079057 1 180633231 [T/C] NR_137330,NM_001135669,NM_004736,NM_001328662 XPR1,XPR1,XPR1,XPR1 Silent,Silent,Silent,Silent rs12043745 1 180656059 [T/G] NR_137330,NM_001135669,NM_004736,NM_001328662 XPR1,XPR1,XPR1,XPR1 Silent,Silent,Silent,Silent rs7556184 1 180657965 [T/G] NR_137330,NM_001135669,NM_004736,NM_001328662 XPR1,XPR1,XPR1,XPR1 Silent,Silent,Silent,Silent rs10914077 1 180685921 [A/G] NR_137330,NM_001135669,NM_004736,NM_001328662 XPR1,XPR1,XPR1,XPR1 Silent,Silent,Silent,Silent rs12408176 1 180692815 [T/C] NR_137330,NM_001135669,NM_004736,NM_001328662 XPR1,XPR1,XPR1,XPR1 Silent,Silent,Silent,Silent rs10914083 1 180700133 [A/G] NR_137330,NM_001135669,NM_004736,NM_001328662 XPR1,XPR1,XPR1,XPR1 Silent,Silent,Silent,Silent rs6700926 1 180722353 [A/G] NR_137330,NM_001135669,NM_004736,NM_001328662 XPR1,XPR1,XPR1,XPR1 Silent,Silent,Silent,Silent rs1339768 1 180742308 [T/G] NR_137330,NM_001135669,NM_004736,NM_001328662 XPR1,XPR1,XPR1,XPR1 Silent,Silent,Silent,Silent variant.8775 1 180780624 [A/G] NR_137330,NM_001135669,NM_004736,NM_001328662 XPR1,XPR1,XPR1,XPR1 EXON Silent,Missense_A255T,Missense_A255T,Missense_A255T rs12075235 1 180800347 [T/C] NR_137330,NM_001135669,NM_004736,NM_001328662 XPR1,XPR1,XPR1,XPR1 Silent,Silent,Silent,Silent rs7536258 1 180820794 [A/G] NR_137330,NM_001135669,NM_004736 XPR1,XPR1,XPR1 Silent,Silent,Silent exm128327 1 180842993 [A/G] NR_137330,NM_001135669,NM_004736 XPR1,XPR1,XPR1 EXON Silent,Missense_I510V,Missense_I575V variant.8776 1 180843078 [A/G] NR_137330,NM_001135669,NM_004736 XPR1,XPR1,XPR1 EXON Silent,Missense_R538Q,Missense_R603Q newrs145195917 1 180849433 [A/G] NR_137330,NM_001135669,NM_004736 XPR1,XPR1,XPR1 EXON Silent,Missense_Q612R,Missense_Q677R rs12088182 1 180853055 [T/G] NR_137330,NM_001135669,NM_004736 XPR1,XPR1,XPR1 Silent,Silent,Silent rs12118635 1 180875730 [A/C] exm1739910 1 180885290 [A/G] NM_020950 KIAA1614 EXON Synonymous_Q17Q exm128352 1 180885334 [T/C] NM_020950 KIAA1614 EXON Missense_T32I exm128354 1 180885430 [T/C] NM_020950 KIAA1614 EXON Missense_L64P exm128370 1 180885699 [A/G] NM_020950 KIAA1614 EXON Missense_G154S exm128376 1 180885754 [T/C] NM_020950 KIAA1614 EXON Missense_P172L exm128378 1 180885768 [T/C] NM_020950 KIAA1614 EXON Missense_R177C exm128381 1 180885841 [T/C] NM_020950 KIAA1614 EXON Missense_P201L exm128387 1 180885874 [T/C] NM_020950 KIAA1614 EXON Missense_P212L exm128389 1 180885879 [T/C] NM_020950 KIAA1614 EXON Missense_H214Y exm128398 1 180886063 [A/G] NM_020950 KIAA1614 EXON Missense_R275H exm128403 1 180886126 [A/G] NM_020950 KIAA1614 EXON Missense_R296Q exm128404 1 180886140 [T/C] NM_020950 KIAA1614 EXON Missense_R301C exm128406 1 180886186 [A/G] NM_020950 KIAA1614 EXON Missense_R316H exm128408 1 180886216 [T/C] NM_020950 KIAA1614 EXON Missense_S326F exm128410 1 180886990 [A/G] NM_020950 KIAA1614 EXON Missense_R334Q exm128413 1 180887034 [A/G] NM_020950 KIAA1614 EXON Missense_D349N rs7515553 1 180890173 [A/G] NM_020950 KIAA1614 Silent rs12735084 1 180893135 [T/C] NM_020950 KIAA1614 Silent rs2331901 1 180894304 [A/G] NM_020950 KIAA1614 Silent exm128423 1 180897634 [A/G] NM_020950 KIAA1614 EXON Missense_R377H exm128431 1 180897684 [A/G] NM_020950 KIAA1614 EXON Missense_V394M exm128432 1 180897709 [A/G] NM_020950 KIAA1614 EXON Missense_R402Q exm128434 1 180904367 [T/C] NM_020950 KIAA1614 EXON Missense_P441L exm128447 1 180904714 [T/C] NM_020950 KIAA1614 EXON Missense_P557S exm128456 1 180904951 [A/G] NM_020950 KIAA1614 EXON Missense_A636T exm128457 1 180904952 [T/C] NM_020950 KIAA1614 EXON Missense_A636V exm128467 1 180905263 [T/C] NM_020950 KIAA1614 EXON Missense_R740W exm128469 1 180905294 [T/C] NM_020950 KIAA1614 EXON Missense_T750I exm2250335 1 180905307 [T/G] NM_020950 KIAA1614 EXON Synonymous_T754T exm128473 1 180905344 [A/G] NM_020950 KIAA1614 EXON Missense_T767A exm128478 1 180905423 [A/C] NM_020950 KIAA1614 EXON Missense_Q793P rs3795504 1 180905448 [T/G] NM_020950 KIAA1614 EXON Missense_L801F exm128479 1 180905448 [T/G] NM_020950 KIAA1614 EXON Missense_L801F exm128485 1 180905618 [T/C] NM_020950 KIAA1614 EXON Missense_P858L exm128486 1 180905641 [T/C] NM_020950 KIAA1614 EXON Missense_R866C exm128499 1 180907831 [A/G] NM_020950 KIAA1614 EXON Missense_G968R exm128504 1 180910262 [A/G] NM_020950 KIAA1614 EXON Missense_I1000M exm128511 1 180910369 [T/C] NM_020950 KIAA1614 EXON Missense_P1036L exm128514 1 180910421 [A/G] NM_020950 KIAA1614 EXON Synonymous_P1053P exm128515 1 180913544 [A/G] NM_020950 KIAA1614 EXON Missense_R1060H exm128517 1 180913597 [A/G] NM_020950 KIAA1614 EXON Missense_N1078D exm128523 1 180914453 [T/C] NM_020950 KIAA1614 EXON Missense_S1101L exm128524 1 180914480 [A/G] NM_020950 KIAA1614 EXON Missense_D1110G exm128528 1 180914534 [T/C] NM_020950 KIAA1614 EXON Missense_P1128L exm2250336 1 180917275 [A/G] rs870046 1 180922807 [A/G] NR_145481 KIAA1614-AS1 Silent rs3737062 1 180931508 [T/G] rs12022368 1 180934047 [T/C] rs4651080 1 180934163 [A/G] rs2002041 1 180938117 [A/G] rs3747957 1 180953853 [A/G] NM_005819,NM_001286210 STX6,STX6 EXON Synonymous_N217N,Synonymous_N116N exm128544 1 180953873 [T/C] NM_005819,NM_001286210 STX6,STX6 EXON Missense_T211A,Missense_T110A rs7556005 1 180956195 [T/C] NM_005819,NM_001286210 STX6,STX6 Silent,Silent exm128548 1 180957405 [T/C] NM_005819,NM_001286210 STX6,STX6 EXON Missense_R189H,Missense_R88H exm128551 1 180957427 [T/C] NM_005819,NM_001286210 STX6,STX6 EXON Missense_V182M,Missense_V81M exm128552 1 180957461 [T/A] NM_005819,NM_001286210 STX6,STX6 EXON Missense_D170E,Missense_D69E exm128565 1 180959239 [T/G] NM_005819,NM_001286210 STX6,STX6 EXON Missense_L124M,Missense_L23M exm-rs1411478 1 180962282 [A/G] NM_005819,NM_001286210 STX6,STX6 Silent,Silent exm128566 1 180962499 [T/C] NM_005819,NM_001286210 STX6,STX6 EXON Synonymous_Q121Q,Synonymous_Q20Q rs10494536 1 180975865 [T/C] NM_005819,NM_001286210 STX6,STX6 Silent,Silent rs10159067 1 180999351 [T/C] rs3806284 1 181002479 [T/C] exm128590 1 181003160 [T/C] NM_001531,NM_001195035,NM_001195000,NM_001310213,NM_001194999 MR1,MR1,MR1,MR1,MR1 EXON Missense_A6V,Missense_A6V,Missense_A6V,Silent,Missense_A6V variant.8794 1 181003210 [T/C] NM_001531,NM_001195035,NM_001195000,NM_001310213,NM_001194999 MR1,MR1,MR1,MR1,MR1 EXON Missense_R23W,Missense_R23W,Missense_R23W,Silent,Missense_R23W rs6692913 1 181005644 [A/G] NM_001531,NM_001195035,NM_001195000,NM_001310213,NM_001194999 MR1,MR1,MR1,MR1,MR1 Silent,Silent,Silent,Silent,Silent exm128609 1 181018422 [A/G] NM_001531,NM_001195035,NM_001195000,NM_001310213,NM_001194999 MR1,MR1,MR1,MR1,MR1 EXON Missense_R101H,Missense_R101H,Missense_R101H,Missense_R30H,Missense_R101H indel.8796 1 181019199 [I/D] NM_001531,NM_001195035,NM_001195000,NM_001310213,NM_001194999 MR1,MR1,MR1,MR1,MR1 EXON variant.8797 1 181019313 [A/G] NM_001531,NM_001195035,NM_001195000,NM_001310213,NM_001194999 MR1,MR1,MR1,MR1,MR1 EXON Nonsense_W165X,Nonsense_W165X,Nonsense_W165X,Nonsense_W94X,Nonsense_W120X var_1_181019427 1 181019427 [A/C] NM_001531,NM_001195035,NM_001195000,NM_001310213,NM_001194999 MR1,MR1,MR1,MR1,MR1 Silent,Silent,Silent,Silent,Silent exm128621 1 181021373 [T/C] NM_001531,NM_001195035,NM_001195000,NM_001310213,NM_001194999 MR1,MR1,MR1,MR1,MR1 EXON Missense_P203S,Silent,Silent,Silent,Missense_P158S exm128627 1 181021487 [A/G] NM_001531,NM_001195035,NM_001195000,NM_001310213,NM_001194999 MR1,MR1,MR1,MR1,MR1 EXON Missense_E241K,Silent,Silent,Silent,Missense_E196K rs3747956 1 181024404 [A/G] NM_001531,NM_001195035,NM_001195000,NM_001310213,NM_001194999 MR1,MR1,MR1,MR1,MR1 EXON Silent,Silent,Silent,Silent,Silent rs4652553 1 181026704 [T/C] NM_001531,NM_001195035,NM_001195000,NM_001310213,NM_001194999 MR1,MR1,MR1,MR1,MR1 EXON Silent,Silent,Silent,Silent,Silent rs10797668 1 181035754 [A/G] rs12144382 1 181039039 [A/G] rs17302632 1 181039528 [T/C] rs3856067 1 181045443 [T/G] rs4651082 1 181050713 [T/C] exm128645 1 181058084 [A/G] NM_016545 IER5 EXON Missense_G16S exm128676 1 181058796 [A/G] NM_016545 IER5 EXON Missense_G253E rs6658698 1 181060791 [A/G] rs7541438 1 181086687 [T/C] rs12025764 1 181095779 [T/C] rs6692991 1 181098795 [T/C] rs10910875 1 181108029 [A/G] rs881964 1 181109478 [T/C] rs12238995 1 181113441 [T/C] exm2250338 1 181116023 [T/C] rs11582767 1 181126503 [A/G] rs10910888 1 181147045 [A/G] NR_125966 LINC01732 Silent rs16856832 1 181154036 [A/G] rs946646 1 181154835 [A/G] rs3827706 1 181160271 [T/C] rs7550430 1 181161153 [A/G] rs6679388 1 181174959 [T/G] rs4652591 1 181177854 [T/C] rs10797688 1 181181995 [T/C] rs6425678 1 181185861 [A/G] rs10797698 1 181199735 [T/C] rs10797699 1 181204194 [A/G] rs3911582 1 181210746 [T/C] rs11582429 1 181214224 [T/G] rs4652630 1 181227982 [A/G] rs4652633 1 181229553 [T/C] rs2168951 1 181233497 [T/G] rs12027236 1 181240106 [A/G] rs2501540 1 181243896 [T/C] rs7548701 1 181259796 [A/G] rs2804682 1 181263259 [T/C] rs2332203 1 181266420 [A/G] rs2609500 1 181270232 [A/G] rs7523745 1 181274415 [T/C] rs7548242 1 181296409 [A/G] rs12139587 1 181300447 [A/G] rs9803794 1 181309400 [A/G] rs12756919 1 181310522 [T/G] rs2609475 1 181336389 [T/C] rs6658713 1 181336528 [T/C] rs617322 1 181358407 [A/G] rs634225 1 181359880 [A/G] rs667586 1 181372624 [A/G] exm2259880 1 181384078 [T/G] rs10752856 1 181389092 [T/C] rs6696547 1 181393238 [T/C] rs601354 1 181397134 [A/G] rs681590 1 181408925 [A/G] rs3845431 1 181412487 [A/G] rs588789 1 181419678 [A/G] rs6424813 1 181433468 [A/G] rs553042 1 181456700 [T/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs4652661 1 181476430 [T/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs681271 1 181483786 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs683927 1 181489802 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs12402123 1 181490018 [T/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs625226 1 181500324 [T/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs6424814 1 181506017 [T/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs10910955 1 181519521 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs2332429 1 181525755 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs1953690 1 181534435 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs10797730 1 181541159 [T/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs7511748 1 181545037 [T/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs12135959 1 181545124 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs199950 1 181590858 [T/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs199937 1 181594465 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs6691980 1 181596223 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs3845439 1 181609567 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs6675785 1 181614143 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs3820260 1 181638511 [T/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs10910979 1 181653111 [T/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs7513540 1 181672682 [T/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent exm128763 1 181701810 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Missense_R844Q,Missense_R863Q,Missense_R863Q exm128767 1 181701903 [T/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Missense_P875L,Missense_P894L,Missense_P894L exm128770 1 181701978 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Missense_R900Q,Missense_R919Q,Missense_R919Q exm128772 1 181701987 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Missense_R903Q,Missense_R922Q,Missense_R922Q exm128789 1 181702689 [T/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Missense_T1003M,Missense_T1022M,Missense_T1022M rs7418539 1 181704788 [A/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs3767000 1 181712290 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs3767001 1 181712376 [T/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs3767003 1 181716658 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs697259 1 181736189 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs199930 1 181741301 [T/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Synonymous_N1672N,Synonymous_N1691N,Synonymous_N1691N rs473200 1 181754803 [T/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent exm1740150 1 181754870 [T/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Missense_R1882C,Missense_R1901C,Missense_R1901C exm128871 1 181754879 [A/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Missense_P1885T,Missense_P1904T,Missense_P1904T exm128872 1 181754880 [T/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Missense_P1885L,Missense_P1904L,Missense_P1904L exm128877 1 181759599 [A/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Nonsense_Y1916X,Nonsense_Y1935X,Nonsense_Y1935X rs704326 1 181759657 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Missense_A1936T,Missense_A1955T,Missense_A1955T exm128885 1 181759657 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Missense_A1936T,Missense_A1955T,Missense_A1955T exm128904 1 181765920 [G/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Missense_A2047P,Missense_A2066P,Missense_A2109P exm128913 1 181767498 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Missense_R2095Q,Missense_R2114Q,Missense_R2157Q exm128919 1 181767543 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Missense_Y2110C,Missense_Y2129C,Missense_Y2172C exm128923 1 181767564 [T/C] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Missense_A2117V,Missense_A2136V,Missense_A2179V exm128929 1 181767653 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Missense_E2147K,Missense_E2166K,Missense_E2209K exm128932 1 181767749 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Missense_A2179T,Missense_A2198T,Missense_A2241T exm128935 1 181767860 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Missense_M2216V,Missense_M2235V,Missense_M2278V rs3681 1 181773948 [A/G] NM_001205294,NM_000721,NM_001205293 CACNA1E,CACNA1E,CACNA1E EXON Silent,Silent,Silent exm2250341 1 181778329 [A/C] rs509391 1 181782017 [A/C] rs511136 1 181804790 [A/G] rs659234 1 181808610 [A/G] rs12071191 1 181813549 [A/G] rs486003 1 181813769 [A/G] rs695072 1 181816509 [T/C] rs16858296 1 181827287 [A/G] rs12410953 1 181843583 [T/C] rs6701187 1 181850780 [A/G] rs498212 1 181870217 [T/C] rs4651117 1 181888775 [A/C] rs2262513 1 181914287 [A/C] rs12039940 1 181952711 [T/C] rs10911006 1 181954718 [T/G] rs3904616 1 181972879 [A/G] rs6700658 1 182005722 [T/C] rs11802562 1 182024515 [T/C] NM_001009992 ZNF648 EXON Silent exm128941 1 182025483 [T/C] NM_001009992 ZNF648 EXON Missense_G555S exm128945 1 182025567 [T/C] NM_001009992 ZNF648 EXON Missense_N527D exm128950 1 182025710 [A/G] NM_001009992 ZNF648 EXON Missense_T479M exm128963 1 182026013 [T/G] NM_001009992 ZNF648 EXON Nonsense_S378X exm128965 1 182026052 [C/G] NM_001009992 ZNF648 EXON Missense_P365R exm128967 1 182026104 [A/C] NM_001009992 ZNF648 EXON Missense_S348A exm128972 1 182026303 [T/G] NM_001009992 ZNF648 EXON Nonsense_C281X exm1740181 1 182026586 [C/G] NM_001009992 ZNF648 EXON Missense_S187C exm128985 1 182026596 [T/C] NM_001009992 ZNF648 EXON Missense_A184T exm128992 1 182026813 [G/C] NM_001009992 ZNF648 EXON Missense_N111K rs12568050 1 182026813 [G/C] NM_001009992 ZNF648 EXON Missense_N111K exm1740183 1 182026840 [A/C] NM_001009992 ZNF648 EXON Missense_S102R exm128995 1 182026875 [G/C] NM_001009992 ZNF648 EXON Missense_G91R exm128999 1 182026914 [T/C] NM_001009992 ZNF648 EXON Missense_E78K exm129002 1 182027022 [T/C] NM_001009992 ZNF648 EXON Missense_E42K exm129006 1 182027144 [T/A] NM_001009992 ZNF648 EXON Missense_M1K rs10797752 1 182053214 [T/C] rs7540941 1 182054142 [A/G] rs3856106 1 182054977 [T/C] rs3856109 1 182069992 [T/C] rs10911021 1 182081960 [T/C] rs1281331 1 182094598 [A/G] rs16858559 1 182098096 [A/G] rs1281322 1 182101577 [A/G] rs3908797 1 182102857 [T/C] rs3795489 1 182107068 [A/G] rs6674234 1 182108102 [A/G] rs1689804 1 182121598 [A/G] rs16858588 1 182130704 [A/G] rs10911029 1 182131294 [A/G] rs1689791 1 182151909 [A/G] exm-rs1689800 1 182168885 [A/G] rs10911031 1 182173711 [A/G] NR_104175 LINC01344 Silent rs1779819 1 182178482 [A/G] NR_104175 LINC01344 Silent rs10911032 1 182185360 [T/C] NR_104175 LINC01344 Silent rs10494545 1 182200659 [T/C] NR_104175 LINC01344 Silent rs2251093 1 182226964 [A/G] NR_104175 LINC01344 Silent rs7524031 1 182244786 [A/G] NR_104175 LINC01344 Silent rs6659875 1 182259826 [A/C] NR_104175 LINC01344 Silent rs4600010 1 182262763 [A/C] NR_104175 LINC01344 Silent rs2494466 1 182264659 [A/G] NR_104175 LINC01344 Silent rs3118146 1 182267259 [T/G] NR_104175 LINC01344 Silent rs2494467 1 182283352 [A/G] rs6703548 1 182291435 [T/G] rs4075837 1 182301508 [T/C] rs10797768 1 182312476 [A/G] rs2246119 1 182315534 [T/G] rs10911063 1 182318783 [A/C] rs11587233 1 182319534 [A/C] rs2256956 1 182319935 [A/G] rs2494461 1 182327842 [A/C] rs2252633 1 182331836 [A/C] rs2252483 1 182333131 [A/G] exm2264928 1 182333131 [A/G] rs16858921 1 182351519 [A/C] NM_001033044,NM_001033056,NM_002065 GLUL,GLUL,GLUL EXON Silent,Silent,Silent rs7734 1 182352621 [T/C] NM_001033044,NM_001033056,NM_002065 GLUL,GLUL,GLUL EXON Silent,Silent,Silent exm129021 1 182353781 [A/C] NM_001033044,NM_001033056,NM_002065 GLUL,GLUL,GLUL EXON Missense_L294R,Missense_L294R,Missense_L294R newrs140378060 1 182354890 [T/C] NM_001033044,NM_001033056,NM_002065 GLUL,GLUL,GLUL Silent,Silent,Silent exm129048 1 182355519 [A/G] NM_001033044,NM_001033056,NM_002065 GLUL,GLUL,GLUL EXON Missense_T116I,Missense_T116I,Missense_T116I rs12136955 1 182358944 [A/G] NM_001033044,NM_001033056,NM_002065 GLUL,GLUL,GLUL Silent,Silent,Silent rs12403634 1 182360315 [T/C] NM_001033044,NM_001033056,NM_002065 GLUL,GLUL,GLUL EXON Silent,Silent,Silent indel.8812 1 182368945 [I/D] NM_172000 TEDDM1 EXON exm129069 1 182369039 [T/G] NM_172000 TEDDM1 EXON Missense_D194E exm129073 1 182369105 [T/C] NM_172000 TEDDM1 EXON Missense_M172I exm129077 1 182369233 [A/G] NM_172000 TEDDM1 EXON Missense_Y130H exm129079 1 182369272 [A/G] NM_172000 TEDDM1 EXON Missense_S117P indel.8814 1 182369416 [I/D] NM_172000 TEDDM1 EXON exm129090 1 182369460 [A/G] NM_172000 TEDDM1 EXON Missense_L54P rs2148026 1 182372452 [A/G] rs3818458 1 182376260 [T/C] rs6692352 1 182397765 [T/C] rs6659412 1 182398201 [T/C] rs497915 1 182406654 [A/G] rs6677117 1 182410409 [A/G] rs267866 1 182420448 [A/G] NM_001137669 RGSL1 Silent exm129100 1 182423094 [T/G] NM_001137669 RGSL1 EXON Missense_E5D exm129102 1 182423146 [A/G] NM_001137669 RGSL1 EXON Missense_D23N exm129103 1 182429146 [A/G] NM_001137669 RGSL1 EXON Missense_K60R rs2477875 1 182433987 [T/C] NM_001137669 RGSL1 Silent indel.8816 1 182441538 [D/I] NM_001137669 RGSL1 EXON exm129110 1 182442758 [A/G] NM_001137669 RGSL1 EXON Missense_R171K exm129114 1 182442910 [A/G] NM_001137669 RGSL1 EXON Missense_V222I exm129117 1 182443014 [G/C] NM_001137669 RGSL1 EXON Missense_W256C exm2231986 1 182443393 [A/C] NM_001137669 RGSL1 EXON Missense_P383T exm129130 1 182443489 [T/A] NM_001137669 RGSL1 EXON Missense_N415Y rs4271175 1 182446188 [T/G] NM_001137669 RGSL1 Silent rs12024567 1 182457029 [T/G] NM_001137669 RGSL1 Silent exm129137 1 182458122 [A/G] NM_001137669 RGSL1 EXON Missense_N501S rs563988 1 182474160 [T/C] NM_001137669 RGSL1 Silent rs513553 1 182494063 [A/G] NM_001137669 RGSL1 Silent exm129147 1 182496829 [A/G] NM_001137669 RGSL1 EXON Missense_I683V rs266511 1 182497021 [A/C] NM_001137669 RGSL1 Silent exm129155 1 182499457 [T/C] NM_001137669 RGSL1 EXON Missense_T735M exm129157 1 182499943 [C/G] NM_001137669 RGSL1 EXON Missense_D754E exm129158 1 182499956 [T/C] NM_001137669 RGSL1 EXON Missense_H759Y exm2231988 1 182509484 [A/G] NM_001137669 RGSL1 EXON Missense_R866H rs4119585 1 182511398 [T/G] NM_001137669 RGSL1 Silent exm129185 1 182520258 [A/G] NM_001137669 RGSL1 EXON Missense_R986H rs10494533 1 182526585 [A/G] NM_001137669 RGSL1 Silent rs501085 1 182526839 [A/C] NM_001137669 RGSL1 Silent rs10911097 1 182527409 [A/G] NM_001137669 RGSL1 Silent rs10911098 1 182536498 [A/G] rs11072 1 182543331 [A/G] NM_021133 RNASEL EXON Silent exm129199 1 182544687 [A/G] NM_021133 RNASEL EXON Missense_S689F newrs139877811 1 182544705 [A/C] NM_021133 RNASEL EXON Nonsense_L683X exm1740259 1 182545436 [A/C] NM_021133 RNASEL EXON Missense_F665C indel.8822 1 182545438 [I/D] NM_021133 RNASEL EXON exm1740268 1 182550360 [T/C] NM_021133 RNASEL EXON Synonymous_K635K exm129204 1 182550385 [T/C] NM_021133 RNASEL EXON Missense_K627R exm2231990 1 182550393 [T/G] NM_021133 RNASEL EXON Missense_E624D exm129205 1 182550418 [C/G] NM_021133 RNASEL EXON Missense_R616T exm129212 1 182550481 [A/G] NM_021133 RNASEL EXON Missense_T595M exm129215 1 182551266 [T/C] NM_021133 RNASEL EXON Missense_R565H exm129221 1 182551329 [T/G] NM_021133 RNASEL EXON Missense_A544D exm129222 1 182551337 [A/C] NM_021133 RNASEL EXON Missense_D541E exm129232 1 182554557 [T/C] NM_021133 RNASEL EXON Missense_R462Q exm129239 1 182554708 [C/G] NM_021133 RNASEL EXON Missense_R412G exm129240 1 182554725 [A/G] NM_021133 RNASEL EXON Missense_S406F exm129242 1 182554743 [C/G] NM_021133 RNASEL EXON Missense_R400P exm129252 1 182555062 [T/C] NM_021133 RNASEL EXON Missense_K294E exm129256 1 182555149 [A/C] NM_021133 RNASEL EXON Nonsense_E265X exm129257 1 182555169 [A/T] NM_021133 RNASEL EXON Missense_L258H indel.8825 1 182555468 [I/D] NM_021133 RNASEL EXON variant.8826 1 182555479 [A/G] NM_021133 RNASEL EXON Nonsense_R155X exm129276 1 182555640 [A/G] NM_021133 RNASEL EXON Missense_I101T exm129278 1 182555653 [T/G] NM_021133 RNASEL EXON Missense_I97L exm2273725 1 182555709 [A/G] NM_021133 RNASEL EXON Missense_L78P exm1740290 1 182555747 [A/G] NM_021133 RNASEL EXON Synonymous_N65N exm129286 1 182555767 [T/C] NM_021133 RNASEL EXON Missense_G59S newrs74315365 1 182555939 [T/C] NM_021133 RNASEL EXON Missense_M1I rs3738579 1 182556036 [A/G] NM_021133 RNASEL EXON Silent rs682585 1 182559510 [T/C] exm129305 1 182569501 [A/C] NM_002928 RGS16 EXON Missense_D179Y exm129309 1 182569558 [A/G] NM_002928 RGS16 EXON Missense_R160C exm129312 1 182569626 [T/C] NM_002928 RGS16 EXON Missense_H137R exm129313 1 182569627 [A/G] NM_002928 RGS16 EXON Missense_H137Y exm129317 1 182571142 [C/G] NM_002928 RGS16 EXON Missense_Q116E exm129318 1 182571193 [T/C] NM_002928 RGS16 EXON Missense_E99K exm1740321 1 182571591 [A/C] NM_002928 RGS16 EXON Missense_W62G variant.8832 1 182572359 [T/C] NM_002928 RGS16 Silent rs516567 1 182579035 [T/C] exm2265062 1 182584206 [A/G] rs1287816 1 182589991 [A/G] rs672684 1 182596728 [T/G] rs4652738 1 182613666 [A/G] NM_001102450,NM_033345 RGS8,RGS8 EXON Silent,Silent rs1758779 1 182616136 [T/G] NM_001102450,NM_033345 RGS8,RGS8 Silent,Silent exm129341 1 182617348 [A/G] NM_001102450,NM_033345 RGS8,RGS8 EXON Missense_T95I,Missense_T113I exm129342 1 182617370 [T/C] NM_001102450,NM_033345 RGS8,RGS8 EXON Missense_A88T,Missense_A106T rs10797788 1 182623509 [A/G] NM_001102450,NM_033345 RGS8,RGS8 Silent,Silent rs4652741 1 182626738 [A/C] NM_001102450,NM_033345 RGS8,RGS8 Silent,Silent rs587306 1 182632455 [A/G] NM_001102450,NM_033345 RGS8,RGS8 Silent,Silent exm129362 1 182640864 [T/C] NM_001102450,NM_033345 RGS8,RGS8 EXON Silent,Missense_N3S rs524269 1 182646148 [A/G] rs6672020 1 182664258 [A/C] rs508607 1 182679351 [A/G] rs621071 1 182682811 [T/C] NR_146548 LINC01688 Silent rs2482806 1 182684087 [A/C] rs490285 1 182705001 [A/C] rs11805728 1 182727061 [A/C] rs6660584 1 182731008 [A/G] rs12118059 1 182740586 [A/C] rs10797793 1 182746231 [A/G] variant.8836 1 182763490 [T/G] NM_001200050,NM_001200052,NM_001200056,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL Silent,Silent,Silent,Silent,Silent exm129372 1 182763556 [T/C] NM_001200050,NM_001200052,NM_001200056,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Silent,Missense_T17M,Missense_T17M,Missense_T17M,Missense_T17M var_1_182763575 1 182763576 [I/D] NM_001200050,NM_001200052,NM_001200056,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL rs7554927 1 182766498 [T/G] NM_001200050,NM_001200052,NM_001200056,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL Silent,Silent,Silent,Silent,Silent exm1740386 1 182772897 [A/G] NM_001200050,NM_001200052,NM_001200056,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Silent,Missense_N45D,Missense_N45D,Missense_N45D,Missense_N45D exm129388 1 182781313 [A/G] NM_001200050,NM_001200052,NM_001200056,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Missense_V66I,Missense_V85I,Missense_V85I,Missense_V85I,Missense_V85I variant.8842 1 182783994 [A/G] NM_001200050,NM_001200052,NM_001200056,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL Silent,Silent,Silent,Silent,Silent rs2275171 1 182784022 [T/C] NM_001200050,NM_001200052,NM_001200056,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL Silent,Silent,Silent,Silent,Silent exm129396 1 182785882 [G/C] NM_001200050,NM_001200052,NM_001200056,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Missense_A114G,Missense_A133G,Missense_A133G,Missense_A133G,Missense_A133G exm129398 1 182785893 [C/G] NM_001200050,NM_001200052,NM_001200056,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Missense_A118P,Missense_A137P,Missense_A137P,Missense_A137P,Missense_A137P exm129400 1 182785920 [A/C] NM_001200050,NM_001200052,NM_001200056,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Missense_P127T,Missense_P146T,Missense_P146T,Missense_P146T,Missense_P146T indel.8843 1 182785931 [I/D] NM_001200050,NM_001200052,NM_001200056,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON rs12080837 1 182786953 [T/C] NM_001200050,NM_001200052,NM_001200056,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL Silent,Silent,Silent,Silent,Silent exm129402 1 182787685 [A/C] NM_001200050,NM_001200052,NM_001200056,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Missense_E137A,Missense_E156A,Missense_E156A,Missense_E156A,Missense_E156A variant.8844 1 182787726 [T/C] NM_001200050,NM_001200052,NM_001200056,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Nonsense_Q151X,Nonsense_Q170X,Nonsense_Q170X,Nonsense_Q170X,Nonsense_Q170X exm129410 1 182787816 [A/G] NM_001200050,NM_001200052,NM_001200056,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Missense_V181M,Missense_V200M,Missense_V200M,Missense_V200M,Missense_V200M exm129418 1 182787975 [C/G] NM_001200050,NM_001200052,NM_001200056,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Missense_A193P,Missense_A212P,Missense_A212P,Silent,Missense_A212P exm129434 1 182797946 [T/C] NM_001200050,NM_001200052,NM_001200056,NM_001200051,NM_030769 NPL,NPL,NPL,NPL,NPL EXON Missense_S270F,Silent,Silent,Silent,Missense_S289F var_1_182822497 1 182822497 [T/C] NR_033302,NM_001357 DHX9,DHX9 EXON Silent,Nonsense_R141X indel.8846 1 182827376 [I/D] NR_033302,NM_001357 DHX9,DHX9 rs13373977 1 182834817 [A/G] NR_033302,NM_001357 DHX9,DHX9 Silent,Silent exm129496 1 182850399 [T/C] NR_033302,NM_001357 DHX9,DHX9 EXON Silent,Synonymous_Y875Y exm2265063 1 182854200 [A/G] NR_033302,NM_001357 DHX9,DHX9 Silent,Silent exm129526 1 182869122 [T/C] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON Missense_S653N,Missense_S534N exm129529 1 182869224 [T/G] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON Missense_K619T,Missense_K500T indel.8847 1 182869273 [I/D] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON exm129531 1 182869312 [A/G] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON Missense_Y590H,Missense_Y471H variant.8849 1 182872174 [T/C] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON Synonymous_K570K,Synonymous_K451K exm129539 1 182873340 [T/G] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON Missense_T521K,Missense_T402K exm129541 1 182873431 [T/C] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON Missense_V491M,Missense_V372M exm129545 1 182873562 [A/G] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON Missense_V447A,Missense_V328A exm129547 1 182874667 [T/G] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON Missense_N434H,Missense_N315H rs6681606 1 182878158 [A/G] NM_030933,NM_001345928 SHCBP1L,SHCBP1L Silent,Silent exm129554 1 182898813 [T/G] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON Missense_H384P,Missense_H265P exm129555 1 182898852 [T/C] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON Missense_R371H,Missense_R252H exm2231994 1 182898874 [A/G] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON Missense_F364L,Missense_F245L exm129568 1 182908446 [T/C] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON Missense_R314H,Missense_R195H exm129571 1 182908486 [A/G] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON Nonsense_Q301X,Nonsense_Q182X exm129574 1 182908512 [T/G] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON Missense_D292A,Missense_D173A variant.8854 1 182908690 [T/C] NM_030933,NM_001345928 SHCBP1L,SHCBP1L Silent,Silent exm129577 1 182909488 [A/G] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON Missense_I249T,Missense_I130T exm129585 1 182920569 [C/G] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON Missense_L147V,Missense_L28V exm129586 1 182920575 [T/C] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON Missense_K145E,Missense_K26E exm129599 1 182922215 [T/G] NM_030933,NM_001345928 SHCBP1L,SHCBP1L EXON Missense_S18R,Silent rs3814325 1 182922975 [A/C] rs10797795 1 182931205 [T/C] rs13375863 1 182931946 [T/C] rs6697240 1 182935574 [A/G] rs9943111 1 182937401 [A/G] rs6664353 1 182938102 [A/G] rs10737235 1 182971816 [T/C] exm2264929 1 182973491 [A/G] exm129612 1 182993159 [T/C] NM_002293 LAMC1 EXON Missense_A103V kgp22539 1 182996234 [T/C] NM_002293 LAMC1 Silent rs4651138 1 183001312 [A/C] NM_002293 LAMC1 Silent rs10752897 1 183071024 [T/C] NM_002293 LAMC1 Silent rs2296289 1 183072701 [T/C] NM_002293 LAMC1 EXON Synonymous_N219N exm129634 1 183072751 [A/G] NM_002293 LAMC1 EXON Missense_N236S exm129645 1 183079691 [A/G] NM_002293 LAMC1 EXON Missense_K308R exm129649 1 183079729 [T/C] NM_002293 LAMC1 EXON Missense_P321S exm2273726 1 183083801 [A/T] NM_002293 LAMC1 EXON Missense_F386Y exm129660 1 183084676 [A/G] NM_002293 LAMC1 EXON Missense_D411G exm129667 1 183085755 [A/G] NM_002293 LAMC1 EXON Missense_I458V exm129669 1 183085922 [A/T] NM_002293 LAMC1 EXON Missense_N483I exm129673 1 183085942 [T/C] NM_002293 LAMC1 EXON Missense_R490W exm129675 1 183086017 [A/G] NM_002293 LAMC1 EXON Missense_I515V exm129676 1 183086026 [A/G] NM_002293 LAMC1 EXON Missense_T518A exm129679 1 183086470 [T/G] NM_002293 LAMC1 EXON Missense_R527L exm129682 1 183086486 [T/G] NM_002293 LAMC1 EXON Missense_D532E exm129684 1 183086509 [T/G] NM_002293 LAMC1 EXON Missense_W540L exm1740621 1 183086559 [T/C] NM_002293 LAMC1 EXON Missense_R557W rs2296292 1 183086757 [A/C] NM_002293 LAMC1 EXON Synonymous_A592A 1KG_1_183087268 1 183087268 [D/I] NM_002293 LAMC1 EXON rs3768622 1 183090011 [A/G] NM_002293 LAMC1 Silent exm129704 1 183090920 [A/G] NM_002293 LAMC1 EXON Missense_T685A exm129706 1 183091040 [A/G] NM_002293 LAMC1 EXON Missense_A725T exm129707 1 183091058 [A/G] NM_002293 LAMC1 EXON Missense_E731K exm129724 1 183093841 [A/G] NM_002293 LAMC1 EXON Missense_R826H exm129731 1 183094547 [T/C] NM_002293 LAMC1 EXON Missense_L888P exm129735 1 183094585 [A/G] NM_002293 LAMC1 EXON Missense_V901M exm129739 1 183094645 [C/G] NM_002293 LAMC1 EXON Missense_P921A exm2250353 1 183095375 [T/G] NM_002293 LAMC1 EXON Synonymous_G974G exm129746 1 183095375 [T/G] NM_002293 LAMC1 EXON Synonymous_G974G exm129755 1 183096448 [A/G] NM_002293 LAMC1 EXON Missense_R1011H exm129757 1 183096481 [A/G] NM_002293 LAMC1 EXON Missense_N1022S exm129758 1 183096499 [A/G] NM_002293 LAMC1 EXON Missense_C1028Y exm129759 1 183096522 [T/C] NM_002293 LAMC1 EXON Missense_R1036W exm129776 1 183099542 [C/G] NM_002293 LAMC1 EXON Missense_S1115T exm129778 1 183099560 [A/G] NM_002293 LAMC1 EXON Missense_R1121Q exm129782 1 183099605 [T/C] NM_002293 LAMC1 EXON Missense_A1136V exm2250354 1 183099657 [A/G] NM_002293 LAMC1 EXON Synonymous_E1153E exm1740657 1 183099670 [A/G] NM_002293 LAMC1 EXON Missense_A1158T variant.8858 1 183099689 [A/G] NM_002293 LAMC1 Silent exm129788 1 183100512 [T/C] NM_002293 LAMC1 EXON Missense_R1189C variant.8859 1 183100518 [T/C] NM_002293 LAMC1 Silent exm129792 1 183101582 [A/G] NM_002293 LAMC1 EXON Missense_N1205S exm129793 1 183101599 [A/G] NM_002293 LAMC1 EXON Missense_A1211T exm129803 1 183102632 [A/G] NM_002293 LAMC1 EXON Missense_E1266K exm1740666 1 183102663 [G/C] NM_002293 LAMC1 EXON Missense_P1276R exm129826 1 183105709 [A/G] NM_002293 LAMC1 EXON Missense_A1435T exm2264930 1 183106739 [A/G] NM_002293 LAMC1 Silent exm2232001 1 183106849 [A/G] NM_002293 LAMC1 EXON Missense_V1454I exm129839 1 183111759 [A/C] NM_002293 LAMC1 EXON Missense_D1555A rs1547715 1 183113952 [A/G] NM_002293 LAMC1 EXON Silent rs6690340 1 183116686 [A/G] rs10911269 1 183134719 [A/G] rs16860429 1 183148228 [A/G] rs2276543 1 183155305 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Silent,Silent rs547905 1 183157924 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 Silent,Silent rs1005716 1 183159377 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 Silent,Silent rs661451 1 183169690 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 Silent,Silent exm-rs1028771 1 183170948 [A/C] NM_005562,NM_018891 LAMC2,LAMC2 Silent,Silent rs10494560 1 183172548 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 Silent,Silent exm-rs525410 1 183176430 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 Silent,Silent exm129858 1 183177132 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_E66K,Missense_E66K rs2274980 1 183184616 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Synonymous_S99S,Synonymous_S99S exm129867 1 183184621 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R101Q,Missense_R101Q exm129869 1 183184650 [C/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_A111P,Missense_A111P exm129872 1 183184662 [G/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R115G,Missense_R115G exm129875 1 183184690 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_T124M,Missense_T124M exm2232003 1 183187575 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_A152V,Missense_A152V exm129886 1 183187613 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R165C,Missense_R165C exm129887 1 183189965 [T/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R170L,Missense_R170L exm129889 1 183190045 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R197C,Missense_R197C exm129890 1 183190055 [A/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_A200E,Missense_A200E exm129893 1 183191262 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_P227S,Missense_P227S exm2232004 1 183192273 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_K256R,Missense_K256R rs1047980 1 183192304 [T/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Synonymous_G266G,Synonymous_G266G exm129903 1 183192389 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R295W,Missense_R295W exm129904 1 183192390 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R295Q,Missense_R295Q exm129905 1 183192395 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_T297A,Missense_T297A rs3738824 1 183192496 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 Silent,Silent newrs149195906 1 183194742 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 Silent,Silent exm129912 1 183194744 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Synonymous_L319L,Synonymous_L319L exm129920 1 183195913 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_I383V,Missense_I383V exm1740727 1 183195980 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_A405V,Missense_A405V exm129927 1 183196682 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_I440V,Missense_I440V exm129940 1 183196831 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Synonymous_T489T,Synonymous_T489T exm129942 1 183197595 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_C519R,Missense_C519R exm129946 1 183197677 [A/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_A546D,Missense_A546D exm129951 1 183200177 [T/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_G599V,Missense_G599V exm129954 1 183200188 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_E603K,Missense_E603K exm1740740 1 183201336 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_M624I,Missense_M624I indel.8861 1 183201455 [I/D] NM_005562,NM_018891 LAMC2,LAMC2 EXON exm129970 1 183201853 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R694H,Missense_R694H exm129971 1 183201877 [T/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_V702G,Missense_V702G exm129973 1 183201922 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R717Q,Missense_R717Q exm129979 1 183204796 [T/C] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_A796V,Missense_A796V exm129984 1 183204831 [C/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_P808A,Missense_P808A exm129990 1 183205654 [T/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_I839S,Missense_I839S exm130002 1 183206566 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_R894H,Missense_R894H exm130008 1 183207460 [A/T] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_S925T,Missense_S925T variant.8864 1 183209436 [A/G] NM_005562,NM_018891 LAMC2,LAMC2 EXON Missense_E1080K,Missense_E1080K exm130041 1 183212369 [A/G] NM_005562 LAMC2 EXON Missense_R1139Q exm2273342 1 183212548 [T/G] NM_005562 LAMC2 EXON Silent rs3768592 1 183214426 [A/G] rs16860673 1 183215909 [T/C] rs549191 1 183220937 [A/G] NM_170706,NM_015039 NMNAT2,NMNAT2 EXON Silent,Silent exm130051 1 183221878 [T/C] NM_170706,NM_015039 NMNAT2,NMNAT2 EXON Synonymous_R269R,Synonymous_R274R rs10494561 1 183247090 [T/C] NM_170706,NM_015039 NMNAT2,NMNAT2 Silent,Silent exm130063 1 183253173 [A/G] NM_170706,NM_015039 NMNAT2,NMNAT2 EXON Synonymous_D172D,Synonymous_D177D newrs144536172 1 183255792 [T/C] NM_170706,NM_015039 NMNAT2,NMNAT2 Silent,Silent exm130075 1 183255908 [T/C] NM_170706,NM_015039 NMNAT2,NMNAT2 EXON Missense_I108V,Missense_I113V rs2480767 1 183257218 [T/C] NM_170706,NM_015039 NMNAT2,NMNAT2 Silent,Silent rs2301877 1 183259125 [A/G] NM_170706,NM_015039 NMNAT2,NMNAT2 Silent,Silent rs10752907 1 183263356 [T/G] NM_170706,NM_015039 NMNAT2,NMNAT2 Silent,Silent rs4652795 1 183266182 [T/C] NM_170706,NM_015039 NMNAT2,NMNAT2 Silent,Silent rs2276879 1 183273751 [T/C] NM_170706,NM_015039 NMNAT2,NMNAT2 Silent,Silent rs602182 1 183279029 [T/G] NM_015039 NMNAT2 Silent rs616545 1 183298150 [A/G] NM_015039 NMNAT2 Silent rs10797875 1 183298502 [T/C] NM_015039 NMNAT2 Silent rs675220 1 183302111 [T/C] NM_015039 NMNAT2 Silent rs595684 1 183310300 [T/C] NM_015039 NMNAT2 Silent rs664422 1 183325722 [T/C] NM_015039 NMNAT2 Silent rs2811558 1 183330413 [T/G] NM_015039 NMNAT2 Silent rs2022013 1 183353853 [T/C] NM_015039 NMNAT2 Silent rs2078087 1 183358405 [T/C] NM_015039 NMNAT2 Silent rs1819628 1 183358440 [T/C] NM_015039 NMNAT2 Silent rs3120798 1 183373665 [T/C] NM_015039 NMNAT2 Silent variant.8867 1 183387361 [T/G] NM_015039 NMNAT2 EXON Nonsense_C14X rs12144629 1 183397899 [T/C] rs2788056 1 183400890 [T/C] rs4047801 1 183415318 [A/G] rs4652802 1 183426758 [A/G] rs2275675 1 183439483 [T/C] NR_040063 SMG7-AS1 Silent rs2226099 1 183449357 [T/C] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm130093 1 183485010 [T/C] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 EXON Silent,Synonymous_D21D,Synonymous_D50D,Synonymous_D50D,Synonymous_D50D,Silent,Synonymous_D21D,Synonymous_D50D,Synonymous_D21D exm130107 1 183495812 [A/G] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 EXON Silent,Missense_K132E,Missense_K161E,Missense_K161E,Missense_K161E,Missense_K90E,Missense_K132E,Missense_K161E,Missense_K132E exm130110 1 183495830 [A/G] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 EXON Silent,Missense_A138T,Missense_A167T,Missense_A167T,Missense_A167T,Missense_A96T,Missense_A138T,Missense_A167T,Missense_A138T rs12144253 1 183497627 [A/G] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm130117 1 183498535 [A/G] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 EXON Silent,Missense_R237Q,Missense_R266Q,Missense_R266Q,Missense_R266Q,Missense_R195Q,Missense_R237Q,Missense_R266Q,Missense_R237Q exm1740818 1 183498580 [T/C] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 EXON Silent,Missense_A252V,Missense_A281V,Missense_A281V,Missense_A281V,Missense_A210V,Missense_A252V,Missense_A281V,Missense_A252V exm130128 1 183502880 [A/G] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 EXON Missense_Y78C,Missense_Y359C,Missense_Y388C,Missense_Y388C,Missense_Y388C,Missense_Y317C,Missense_Y359C,Missense_Y388C,Missense_Y359C exm2232008 1 183502945 [T/G] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 EXON Missense_A100S,Missense_A381S,Missense_A410S,Missense_A410S,Missense_A410S,Missense_A339S,Missense_A381S,Missense_A410S,Missense_A381S newrs138210138 1 183510239 [T/G] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.8869 1 183510243 [A/G] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm130144 1 183511350 [C/G] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 EXON Missense_G238R,Missense_G519R,Missense_G548R,Missense_G548R,Missense_G548R,Missense_G477R,Missense_G519R,Missense_G548R,Missense_G519R exm130150 1 183513543 [T/C] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 EXON Missense_P306L,Missense_P587L,Missense_P616L,Missense_P616L,Missense_P616L,Missense_P591L,Missense_P633L,Missense_P662L,Missense_P587L exm130158 1 183514112 [A/G] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 EXON Missense_M352V,Missense_M633V,Missense_M662V,Missense_M662V,Missense_M662V,Missense_M637V,Missense_M679V,Missense_M708V,Missense_M633V exm1740835 1 183514262 [A/G] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 EXON Missense_M402V,Missense_M683V,Missense_M712V,Missense_M712V,Missense_M712V,Missense_M687V,Missense_M729V,Missense_M758V,Missense_M683V exm1740836 1 183514391 [A/C] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 EXON Missense_T445P,Missense_T726P,Missense_T755P,Missense_T755P,Missense_T755P,Missense_T730P,Missense_T772P,Missense_T801P,Missense_T726P exm130185 1 183515428 [A/G] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 EXON Missense_V573I,Missense_V854I,Missense_V883I,Missense_V883I,Missense_V883I,Missense_V858I,Missense_V900I,Missense_V929I,Missense_V854I exm130190 1 183516241 [T/C] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 EXON Missense_P589S,Silent,Missense_P899S,Silent,Missense_P899S,Missense_P874S,Silent,Missense_P945S,Missense_P870S exm130206 1 183520043 [A/C] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 EXON Missense_K770N,Missense_K1001N,Missense_K1080N,Missense_K1030N,Missense_K1080N,Missense_K1055N,Missense_K1047N,Missense_K1126N,Missense_K1051N exm130207 1 183520048 [T/A] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 EXON Missense_D772V,Missense_D1003V,Missense_D1082V,Missense_D1032V,Missense_D1082V,Missense_D1057V,Missense_D1049V,Missense_D1128V,Missense_D1053V exm130211 1 183520215 [A/G] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 EXON Missense_T787A,Missense_T1018A,Missense_T1097A,Missense_T1047A,Missense_T1097A,Missense_T1072A,Missense_T1064A,Missense_T1143A,Missense_T1068A exm130212 1 183520216 [T/C] NM_001350222,NM_201568,NM_001350221,NM_001350219,NM_001331007,NM_001174061,NM_173156,NM_001350220,NM_201569 SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7,SMG7 EXON Missense_T787M,Missense_T1018M,Missense_T1097M,Missense_T1047M,Missense_T1097M,Missense_T1072M,Missense_T1064M,Missense_T1143M,Missense_T1068M exm130222 1 183525282 [C/G] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_D518H,Missense_D437H,Missense_D473H,Missense_D518H exm130227 1 183529339 [A/G] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_P454S,Missense_P373S,Missense_P409S,Missense_P454S exm130230 1 183532364 [T/A] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_N419I,Missense_N338I,Missense_N374I,Missense_N419I exm130236 1 183532436 [T/C] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_R395Q,Missense_R314Q,Missense_R350Q,Missense_R395Q exm130237 1 183532437 [A/G] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_R395W,Missense_R314W,Missense_R350W,Missense_R395W exm130239 1 183532580 [T/G] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_H389Q,Missense_H308Q,Missense_H344Q,Missense_H389Q exm130240 1 183532590 [T/C] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_R386Q,Missense_R305Q,Missense_R341Q,Missense_R386Q exm130243 1 183532666 [T/A] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_T361S,Missense_T280S,Missense_T316S,Missense_T361S exm130253 1 183534901 [A/G] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_P313L,Missense_P232L,Missense_P268L,Missense_P313L exm130257 1 183536089 [A/G] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_V297A,Missense_V216A,Missense_V252A,Missense_V297A exm130259 1 183536358 [A/G] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_T279M,Missense_T198M,Missense_T234M,Missense_T279M exm130264 1 183538298 [A/G] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_P231L,Missense_P150L,Missense_P186L,Missense_P231L exm2250359 1 183542323 [T/C] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Synonymous_A202A,Silent,Synonymous_A157A,Synonymous_A202A exm130272 1 183542366 [T/C] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_R188K,Silent,Missense_R143K,Missense_R188K exm130273 1 183542387 [T/C] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_K181R,Silent,Missense_K136R,Missense_K181R rs2274064 1 183542387 [T/C] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_K181R,Silent,Missense_K136R,Missense_K181R rs12753665 1 183546061 [A/G] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 Silent,Silent,Silent,Silent variant.8877 1 183546796 [A/G] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Nonsense_R102X,Nonsense_R102X,Nonsense_R102X,Nonsense_R102X rs10911362 1 183548992 [A/G] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 Silent,Silent,Silent,Silent exm130289 1 183559352 [T/C] NM_001127651,NM_001190789,NM_001190794,NM_000433 NCF2,NCF2,NCF2,NCF2 EXON Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q rs3754515 1 183562782 [A/C] rs11755 1 183596136 [A/G] NM_005717,NM_001270439 ARPC5,ARPC5 EXON Silent,Silent rs10911382 1 183597537 [T/C] NM_005717,NM_001270439 ARPC5,ARPC5 Silent,Silent exm130314 1 183602251 [T/C] NM_005717,NM_001270439 ARPC5,ARPC5 EXON Missense_N61S,Missense_N64S rs1174656 1 183616687 [A/G] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Silent rs10911389 1 183616805 [T/C] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Silent indel.8878 1 183616824 [I/D] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON exm130326 1 183616866 [A/G] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Missense_F351L exm130327 1 183616884 [T/C] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Missense_V345M exm130329 1 183616926 [T/C] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Missense_K331E rs1174657 1 183616926 [T/C] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Missense_K331E exm130330 1 183616956 [T/C] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Missense_N321D exm130333 1 183617018 [T/C] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Missense_D300G exm130337 1 183617094 [A/G] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Missense_P275S exm130338 1 183617105 [A/G] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Missense_F271S exm130344 1 183617288 [A/G] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Missense_V210A newrs143188677 1 183617298 [A/C] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Nonsense_G207X exm2250360 1 183617311 [T/A] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Synonymous_I202I exm130348 1 183617330 [G/C] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Missense_S196C exm2232013 1 183617475 [A/T] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Missense_I148F exm130362 1 183617643 [T/C] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Missense_I92V exm130363 1 183617654 [G/C] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Missense_T88S exm130365 1 183617693 [A/G] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Missense_S75F variant.8881 1 183617913 [A/C] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Nonsense_E2X rs6661715 1 183622314 [A/G] NM_001297669,NM_015149,NM_001297670,NM_203454 RGL1,RGL1,RGL1,APOBEC4 EXON Silent,Silent,Silent,Silent rs11802633 1 183647877 [A/G] NM_001297669,NM_015149,NM_001297670 RGL1,RGL1,RGL1 Silent,Silent,Silent rs10911417 1 183667375 [A/C] NM_001297669,NM_015149,NM_001297670 RGL1,RGL1,RGL1 Silent,Silent,Silent rs17559937 1 183684569 [A/G] NM_001297669,NM_015149,NM_001297670 RGL1,RGL1,RGL1 Silent,Silent,Silent rs1952234 1 183754706 [T/C] NM_001297669,NM_015149,NM_001297670 RGL1,RGL1,RGL1 Silent,Silent,Silent rs2500097 1 183765059 [T/C] NM_001297669,NM_015149,NM_001297670 RGL1,RGL1,RGL1 Silent,Silent,Silent rs16861532 1 183769285 [T/C] NM_001297669,NM_015149,NM_001297670 RGL1,RGL1,RGL1 Silent,Silent,Silent rs10082229 1 183772418 [A/G] NM_001297669,NM_015149,NM_001297670 RGL1,RGL1,RGL1 Silent,Silent,Silent rs11580938 1 183781391 [T/C] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent rs10911443 1 183792288 [T/C] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent rs7531289 1 183792795 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent rs4652825 1 183793323 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent rs6424913 1 183798877 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent rs2500116 1 183801920 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent exm2268793 1 183808474 [T/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent rs2500103 1 183811777 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent rs2500102 1 183811931 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent rs3010055 1 183817289 [T/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent rs3002652 1 183830469 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent rs9425322 1 183834061 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent exm130389 1 183835130 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 EXON Synonymous_R114R,Synonymous_R151R,Synonymous_R114R,Synonymous_R116R,Synonymous_R116R exm-rs4651156 1 183837032 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent rs4651156 1 183837032 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent rs10911457 1 183843104 [T/C] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent rs12563514 1 183844367 [T/C] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent exm130400 1 183849869 [G/C] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 EXON Missense_S180C,Missense_S217C,Missense_S180C,Missense_S182C,Missense_S182C exm130403 1 183849907 [T/C] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 EXON Missense_F193L,Missense_F230L,Missense_F193L,Missense_F195L,Missense_F195L rs11585126 1 183850901 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent exm-rs10797919 1 183852914 [G/C] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent exm130415 1 183854023 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 EXON Missense_K299R,Missense_K336R,Missense_K299R,Missense_K301R,Missense_K301R exm2273727 1 183854067 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 EXON Missense_A314T,Missense_A351T,Missense_A314T,Missense_A316T,Missense_A316T rs12031722 1 183866849 [T/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent exm130447 1 183881368 [T/C] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 EXON Missense_T570I,Missense_T607I,Missense_T570I,Missense_T572I,Missense_T543I exm130452 1 183885687 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 EXON Missense_N617S,Missense_N654S,Missense_N617S,Missense_N619S,Missense_N590S rs10797921 1 183886016 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent rs11808177 1 183886768 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent rs6658545 1 183887602 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 Silent,Silent,Silent,Silent,Silent exm130471 1 183895347 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 EXON Missense_R741H,Missense_R778H,Missense_R741H,Missense_R743H,Missense_R714H exm2232016 1 183895383 [A/G] NM_001297669,NM_015149,NM_001297670,NM_001297671,NM_001297672 RGL1,RGL1,RGL1,RGL1,RGL1 EXON Missense_K753R,Missense_K790R,Missense_K753R,Missense_K755R,Missense_K726R rs7522001 1 183898790 [T/C] 1KG_1_183899380 1 183899380 [D/I] NM_001303420 COLGALT2 EXON rs3814332 1 183907291 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Silent,Silent,Silent exm130477 1 183907968 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Silent,Missense_S603N,Missense_S483N exm130478 1 183907978 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Silent,Missense_R600C,Missense_R480C exm130479 1 183907989 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Silent,Missense_R596Q,Missense_R476Q exm1740992 1 183907990 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Silent,Missense_R596W,Missense_R476W exm2232017 1 183908020 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Silent,Missense_D586N,Missense_D466N exm130480 1 183908026 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Silent,Missense_A584T,Missense_A464T rs2296713 1 183909717 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Synonymous_P534P,Synonymous_P534P,Synonymous_P414P exm130487 1 183909728 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_N531D,Missense_N531D,Missense_N411D indel.8882 1 183909752 [D/I] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON exm130490 1 183909818 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_V501I,Missense_V501I,Missense_V381I exm130502 1 183913447 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_R427Q,Missense_R427Q,Missense_R307Q variant.8883 1 183913459 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 Silent,Silent,Silent exm1741004 1 183914577 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_V420I,Missense_V420I,Missense_V300I exm130507 1 183914627 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_S403F,Missense_S403F,Missense_S283F var_1_183914643 1 183914643 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Nonsense_R398X,Nonsense_R398X,Nonsense_R278X exm130511 1 183914681 [A/T] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_Q385L,Missense_Q385L,Missense_Q265L exm2250362 1 183918820 [T/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 Silent,Silent,Silent variant.8885 1 183920141 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_K379R,Missense_K379R,Missense_K259R exm1741008 1 183920187 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_Y364H,Missense_Y364H,Missense_Y244H exm1741009 1 183920208 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_D357N,Missense_D357N,Missense_D237N rs2986550 1 183922435 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 Silent,Silent,Silent exm130521 1 183923972 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_I318T,Missense_I318T,Missense_I198T rs12096645 1 183929771 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 Silent,Silent,Silent rs17504880 1 183932632 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 Silent,Silent,Silent exm130527 1 183933115 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_Y291C,Missense_Y291C,Missense_Y171C rs12725649 1 183933498 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 Silent,Silent,Silent rs4651158 1 183938304 [A/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 Silent,Silent,Silent exm130531 1 183938447 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_T263I,Missense_T263I,Missense_T143I exm130537 1 183938537 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_P233L,Missense_P233L,Missense_P113L exm130540 1 183938555 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_T227I,Missense_T227I,Missense_T107I exm130541 1 183938565 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_W224R,Missense_W224R,Missense_W104R variant.8888 1 183938609 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 Silent,Silent,Silent exm130550 1 183942838 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_L180P,Missense_L180P,Missense_L60P exm130553 1 183942850 [T/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_Q176P,Missense_Q176P,Missense_Q56P rs2296714 1 183942950 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 Silent,Silent,Silent exm130554 1 183944245 [A/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_S160A,Missense_S160A,Missense_S40A rs2182626 1 183945447 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 Silent,Silent,Silent rs3930248 1 183954003 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 Silent,Silent,Silent rs7519097 1 183966166 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 Silent,Silent,Silent exm2259885 1 183979248 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 Silent,Silent,Silent rs7529873 1 183979966 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 Silent,Silent,Silent rs10911492 1 183985203 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 Silent,Silent,Silent rs10494573 1 183997429 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 Silent,Silent,Silent rs10911498 1 184001499 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 Silent,Silent,Silent rs756199 1 184002874 [A/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 Silent,Silent,Silent exm1741031 1 184006362 [C/G] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_V44L,Missense_V44L,Silent exm130568 1 184006377 [T/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_G39R,Missense_G39R,Silent exm130570 1 184006427 [A/C] NM_001303420,NM_015101,NM_001303421 COLGALT2,COLGALT2,COLGALT2 EXON Missense_R22L,Missense_R22L,Silent rs10494574 1 184010727 [A/C] exm-rs2274432 1 184020945 [A/G] NM_001300764,NM_001363643,NR_023349,NM_001300766,NR_125335,NM_001127394,NM_052965 TSEN15,TSEN15,TSEN15,TSEN15,TSEN15,TSEN15,TSEN15 EXON Missense_G19D,Missense_G19D,Silent,Missense_G19D,Silent,Missense_G19D,Missense_G19D exm130582 1 184023529 [A/C] NM_001300764,NM_001363643,NR_023349,NM_001300766,NR_125335,NM_001127394,NM_052965 TSEN15,TSEN15,TSEN15,TSEN15,TSEN15,TSEN15,TSEN15 EXON Missense_Q59H,Missense_Q59H,Silent,Missense_Q59H,Silent,Missense_Q59H,Missense_Q59H rs16822379 1 184027676 [T/C] NM_001300764,NM_001363643,NR_023349,NM_001300766,NR_125335,NM_001127394,NM_052965 TSEN15,TSEN15,TSEN15,TSEN15,TSEN15,TSEN15,TSEN15 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6700096 1 184038151 [T/C] NM_001300764,NM_001363643,NR_023349,NM_001300766,NR_125335,NM_001127394,NM_052965 TSEN15,TSEN15,TSEN15,TSEN15,TSEN15,TSEN15,TSEN15 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10911506 1 184053769 [A/G] NM_001363643 TSEN15 Silent rs16822450 1 184069215 [A/G] rs10911518 1 184111365 [A/G] rs6424925 1 184128264 [A/G] rs12119930 1 184145642 [A/G] rs4650656 1 184148645 [T/C] rs6424930 1 184158796 [T/C] rs2025808 1 184161757 [A/C] rs10911524 1 184169492 [A/G] rs12136030 1 184174866 [T/C] rs1863155 1 184177245 [T/C] rs6696916 1 184192465 [A/G] rs1854085 1 184192838 [T/C] rs714625 1 184208586 [A/G] rs2840274 1 184210805 [A/G] rs12754974 1 184215054 [T/C] rs1930285 1 184217979 [T/C] rs10911551 1 184241399 [T/C] rs16822764 1 184261108 [A/C] rs1930290 1 184272584 [T/C] rs10911555 1 184282979 [A/G] rs12128914 1 184287575 [T/C] rs2151171 1 184298164 [A/G] rs12119892 1 184304073 [A/G] rs4568789 1 184314411 [A/G] rs10797957 1 184318553 [A/G] rs12407200 1 184319293 [T/G] rs4288563 1 184324486 [T/C] rs6683308 1 184336331 [T/C] rs6683726 1 184336748 [T/C] rs10911592 1 184352288 [A/C] rs2207524 1 184369713 [T/G] NM_030806 C1orf21 Silent rs732959 1 184374910 [T/C] NM_030806 C1orf21 Silent rs6696161 1 184375503 [A/G] NM_030806 C1orf21 Silent rs6666696 1 184386071 [T/C] NM_030806 C1orf21 Silent rs10158710 1 184398346 [A/C] NM_030806 C1orf21 Silent rs6695258 1 184408478 [A/C] NM_030806 C1orf21 Silent exm2268957 1 184410702 [T/C] NM_030806 C1orf21 Silent rs2207526 1 184432880 [A/G] NM_030806 C1orf21 Silent rs10489726 1 184440620 [T/C] NM_030806 C1orf21 Silent rs12043012 1 184443829 [T/C] NM_030806 C1orf21 Silent exm130606 1 184446698 [G/C] NM_030806 C1orf21 EXON Missense_Q19E exm130610 1 184476805 [A/C] NM_030806 C1orf21 EXON Missense_Q60K rs7513091 1 184488963 [T/C] NM_030806 C1orf21 Silent rs1416751 1 184498780 [T/C] NM_030806 C1orf21 Silent rs1339563 1 184503803 [A/G] NM_030806 C1orf21 Silent rs749214 1 184536171 [T/C] NM_030806 C1orf21 Silent rs10911612 1 184539342 [A/G] NM_030806 C1orf21 Silent exm130613 1 184567536 [A/G] NM_030806 C1orf21 EXON Missense_M90V rs6695173 1 184577317 [T/G] NM_030806 C1orf21 Silent rs4651223 1 184580250 [T/C] NM_030806 C1orf21 Silent rs1572766 1 184602236 [A/G] rs7540093 1 184603098 [A/G] rs10797982 1 184622136 [A/C] rs9286853 1 184639886 [A/G] exm2264931 1 184653521 [A/G] rs6677073 1 184656801 [T/C] rs1061508 1 184662181 [T/C] NM_025191,NR_135118,NM_001319960 EDEM3,EDEM3,EDEM3 EXON Silent,Silent,Silent exm130626 1 184663288 [A/C] NM_025191,NR_135118,NM_001319960 EDEM3,EDEM3,EDEM3 EXON Missense_W903L,Silent,Missense_W919L rs9425343 1 184663537 [A/C] NM_025191,NR_135118,NM_001319960 EDEM3,EDEM3,EDEM3 EXON Missense_I820S,Silent,Missense_I836S exm130634 1 184663537 [A/C] NM_025191,NR_135118,NM_001319960 EDEM3,EDEM3,EDEM3 EXON Missense_I820S,Silent,Missense_I836S exm130646 1 184672098 [A/G] NM_025191,NR_135118,NM_001319960 EDEM3,EDEM3,EDEM3 EXON Missense_P746S,Silent,Missense_P746S variant.8890 1 184675810 [A/G] NM_025191,NR_135118,NM_001319960 EDEM3,EDEM3,EDEM3 EXON Nonsense_Q724X,Silent,Nonsense_Q724X rs3736757 1 184677464 [A/G] NM_025191,NR_135118,NM_001319960 EDEM3,EDEM3,EDEM3 EXON Synonymous_I620I,Silent,Synonymous_I620I exm2273728 1 184680887 [A/T] NM_025191,NR_135118,NM_001319960 EDEM3,EDEM3,EDEM3 EXON Missense_D554V,Silent,Missense_D554V exm1741102 1 184681571 [T/C] NM_025191,NR_135118,NM_001319960 EDEM3,EDEM3,EDEM3 EXON Missense_N511S,Silent,Missense_N511S indel.8891 1 184681608 [I/D] NM_025191,NR_135118,NM_001319960 EDEM3,EDEM3,EDEM3 EXON exm130697 1 184690424 [A/G] NM_025191,NR_135118,NM_001319960 EDEM3,EDEM3,EDEM3 EXON Missense_T317I,Silent,Missense_T317I var_1_184692891 1 184692891 [A/G] NM_025191,NR_135118,NM_001319960 EDEM3,EDEM3,EDEM3 EXON Nonsense_R283X,Silent,Nonsense_R283X exm130707 1 184695486 [T/C] NM_025191,NR_135118,NM_001319960 EDEM3,EDEM3,EDEM3 EXON Missense_R217Q,Silent,Missense_R217Q exm1741120 1 184703729 [T/C] NM_025191,NR_135118,NM_001319960 EDEM3,EDEM3,EDEM3 EXON Missense_R132G,Silent,Missense_R132G rs861575 1 184725099 [T/C] rs35779894 1 184727100 [A/G] rs3895196 1 184728874 [T/G] rs861588 1 184738494 [A/G] rs861601 1 184745264 [A/G] rs861620 1 184757199 [T/C] rs570441 1 184760001 [T/C] exm130739 1 184764167 [T/C] NM_052966 FAM129A EXON Missense_V911M exm130740 1 184764181 [C/G] NM_052966 FAM129A EXON Nonsense_S906X exm130742 1 184764197 [A/G] NM_052966 FAM129A EXON Missense_P901S exm130743 1 184764219 [T/C] NM_052966 FAM129A EXON Nonsense_W893X exm130745 1 184764238 [T/C] NM_052966 FAM129A EXON Missense_R887H exm1741135 1 184764287 [A/C] NM_052966 FAM129A EXON Missense_A871S exm130751 1 184764331 [T/C] NM_052966 FAM129A EXON Missense_S856N rs35543943 1 184764351 [A/G] NM_052966 FAM129A EXON Synonymous_D849D exm130759 1 184764457 [T/C] NM_052966 FAM129A EXON Missense_E814G exm130768 1 184764601 [T/C] NM_052966 FAM129A EXON Missense_S766N exm130772 1 184764680 [T/C] NM_052966 FAM129A EXON Missense_V740I exm130776 1 184764740 [T/C] NM_052966 FAM129A EXON Missense_V720M exm130779 1 184764824 [T/C] NM_052966 FAM129A EXON Missense_D692N exm130780 1 184764832 [T/G] NM_052966 FAM129A EXON Missense_T689N exm130785 1 184764908 [A/C] NM_052966 FAM129A EXON Missense_V664L exm130790 1 184765000 [A/G] NM_052966 FAM129A EXON Missense_S633L indel.8903 1 184765077 [I/D] NM_052966 FAM129A EXON newrs145159598 1 184765118 [A/G] NM_052966 FAM129A EXON Nonsense_Q594X exm130811 1 184772736 [T/C] NM_052966 FAM129A EXON Missense_A513T exm130815 1 184775133 [T/C] NM_052966 FAM129A EXON Missense_E465K rs338564 1 184777079 [A/G] NM_052966 FAM129A Silent exm130820 1 184777287 [T/C] NM_052966 FAM129A EXON Missense_R419H rs10797988 1 184783699 [T/C] NM_052966 FAM129A Silent indel.8907 1 184787785 [D/I] NM_052966 FAM129A EXON exm130825 1 184787810 [T/G] NM_052966 FAM129A EXON Missense_N379H exm130827 1 184787831 [A/C] NM_052966 FAM129A EXON Nonsense_E372X exm130834 1 184792315 [A/G] NM_052966 FAM129A EXON Missense_I324T exm130840 1 184792432 [A/T] NM_052966 FAM129A EXON Missense_H285L rs567498 1 184793404 [A/G] NM_052966 FAM129A Silent rs520605 1 184795779 [T/C] NM_052966 FAM129A Silent exm130858 1 184801049 [T/C] NM_052966 FAM129A EXON Missense_V217M rs626576 1 184809353 [A/G] NM_052966 FAM129A Silent rs491291 1 184810895 [T/G] NM_052966 FAM129A Silent rs2840217 1 184825355 [T/C] NM_052966 FAM129A Silent rs234644 1 184833344 [A/G] NM_052966 FAM129A Silent rs234660 1 184852414 [A/G] NM_052966 FAM129A Silent exm130860 1 184853765 [A/G] NM_052966 FAM129A Silent exm130866 1 184853857 [A/G] NM_052966 FAM129A EXON Missense_F171L exm130868 1 184853890 [T/C] NM_052966 FAM129A EXON Missense_K160E exm130874 1 184863215 [A/T] NM_052966 FAM129A EXON Missense_N104K exm130875 1 184863250 [C/G] NM_052966 FAM129A EXON Missense_V93L exm130879 1 184863330 [A/G] NM_052966 FAM129A EXON Missense_A66V exm130882 1 184868383 [T/C] NM_052966 FAM129A EXON Missense_A39T rs234670 1 184878307 [A/G] NM_052966 FAM129A Silent rs234683 1 184890756 [A/G] NM_052966 FAM129A Silent rs10911659 1 184905261 [T/C] NM_052966 FAM129A Silent rs7512071 1 184921581 [T/C] NM_052966 FAM129A Silent rs4651243 1 184922863 [A/G] NM_052966 FAM129A Silent rs234123 1 184928165 [T/C] NM_052966 FAM129A Silent rs234098 1 184937385 [T/C] NM_052966 FAM129A Silent rs170885 1 184941749 [A/G] NM_052966 FAM129A Silent exm130890 1 184943476 [G/C] NM_052966 FAM129A EXON Missense_A5P rs10911661 1 184962749 [A/G] rs12033761 1 184966133 [A/G] rs10797997 1 185009090 [T/C] rs2378957 1 185040065 [A/G] NM_007212 RNF2 Silent rs12038919 1 185041630 [A/G] NM_007212 RNF2 Silent indel.8913 1 185067286 [I/D] NM_007212 RNF2 EXON exm130906 1 185069416 [A/G] NM_007212 RNF2 EXON Missense_T332A exm2273343 1 185069561 [A/G] NM_007212 RNF2 EXON Silent rs10911676 1 185071831 [T/C] variant.8915 1 185089177 [A/C] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON Nonsense_E570X,Nonsense_E726X exm130908 1 185089203 [A/G] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON Missense_V561A,Missense_V717A exm130919 1 185094084 [T/C] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON Missense_N428S,Missense_N584S indel.8917 1 185106781 [D/I] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON exm130935 1 185109202 [T/C] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON Missense_D182N,Missense_D338N exm130940 1 185109327 [A/T] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON Missense_H140L,Missense_H296L exm130947 1 185113120 [C/G] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON Missense_D77H,Missense_D233H exm130948 1 185113152 [A/G] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON Missense_A66V,Missense_A222V rs6684586 1 185114837 [A/G] NM_001202423,NM_030934 TRMT1L,TRMT1L Silent,Silent exm130960 1 185119609 [A/C] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON Silent,Missense_C121F rs10737256 1 185123630 [T/C] NM_001202423,NM_030934 TRMT1L,TRMT1L Silent,Silent exm130966 1 185125619 [A/C] NM_001202423,NM_030934 TRMT1L,TRMT1L EXON Silent,Missense_A76S exm1741285 1 185130019 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_K16E,Missense_K16E exm130985 1 185135747 [A/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_S43Y,Missense_S43Y exm131015 1 185143701 [T/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_G141V,Missense_G141V exm131016 1 185143721 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_I148V,Missense_I148V rs10489579 1 185143721 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_I148V,Missense_I148V exm131017 1 185143745 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_I156V,Missense_I156V exm131021 1 185143824 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_K182R,Missense_K182R exm131022 1 185143825 [T/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_K182N,Missense_K182N exm131027 1 185144000 [T/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_R241C,Missense_R241C exm131032 1 185144058 [T/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_S260L,Missense_S260L exm131034 1 185144099 [G/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_Q274E,Missense_Q274E exm131037 1 185144157 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_Y293C,Missense_Y293C exm131038 1 185144162 [T/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_R295W,Missense_R295W exm131039 1 185144165 [T/A] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_T296S,Missense_T296S exm131043 1 185149547 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_V331M,Missense_V331M variant.8919 1 185149565 [T/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Nonsense_Q337X,Nonsense_Q337X exm131045 1 185151109 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_R353H,Missense_R353H exm131051 1 185153461 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_T409A,Missense_T409A exm131057 1 185153985 [A/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_H451N,Missense_H451N rs10798000 1 185157131 [A/C] NM_001105518,NM_017673 SWT1,SWT1 Silent,Silent exm131066 1 185171869 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_H536R,Missense_H536R exm131068 1 185173834 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_T558A,Missense_T558A exm131072 1 185175837 [A/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_L638F,Missense_L638F exm1741309 1 185175856 [A/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_L645I,Missense_L645I exm131074 1 185175889 [T/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_R656C,Missense_R656C rs7543962 1 185176395 [A/G] NM_001105518,NM_017673 SWT1,SWT1 Silent,Silent rs7533198 1 185178151 [A/G] NM_001105518,NM_017673 SWT1,SWT1 Silent,Silent rs6666742 1 185227886 [A/G] NM_001105518,NM_017673 SWT1,SWT1 Silent,Silent exm131091 1 185240474 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_N821D,Missense_N821D indel.8921 1 185259897 [I/D] NM_001105518,NM_017673 SWT1,SWT1 EXON rs10798004 1 185265149 [A/G] rs10174 1 185267114 [A/G] NM_006469 IVNS1ABP EXON Silent exm131105 1 185267193 [T/G] NM_006469 IVNS1ABP EXON Missense_P635T exm131107 1 185267208 [A/G] NM_006469 IVNS1ABP EXON Missense_S630P variant.8922 1 185268869 [A/G] NM_006469 IVNS1ABP EXON Nonsense_R550X exm131116 1 185268875 [A/C] NM_006469 IVNS1ABP EXON Missense_A548S exm131118 1 185268989 [A/G] NM_006469 IVNS1ABP EXON Missense_L510F exm131119 1 185269142 [A/G] NM_006469 IVNS1ABP EXON Missense_P497L exm131121 1 185269230 [T/C] NM_006469 IVNS1ABP EXON Missense_V468I exm131128 1 185269639 [T/C] NM_006469 IVNS1ABP EXON Missense_H391R newrs138853956 1 185276740 [A/G] NM_006469 IVNS1ABP EXON Nonsense_R138X exm131156 1 185278287 [T/C] NM_006469 IVNS1ABP EXON Missense_M43I rs726567 1 185295754 [A/G] NR_038424 GS1-279B7.1 Silent rs11803823 1 185298185 [T/G] NR_038424 GS1-279B7.1 Silent rs6424976 1 185317357 [T/C] rs6689206 1 185325547 [T/G] rs2224027 1 185328658 [T/C] rs1074229 1 185331197 [A/G] rs10489486 1 185338550 [A/C] rs10911713 1 185347488 [T/C] exm2268795 1 185364104 [T/C] rs2144291 1 185371940 [A/G] rs10737261 1 185394176 [A/G] rs10798014 1 185394834 [A/G] rs10911725 1 185395182 [A/G] rs4651260 1 185416257 [A/G] rs7519702 1 185422346 [A/C] rs10911734 1 185422424 [T/C] rs7416136 1 185439258 [A/C] rs10911739 1 185444202 [T/C] rs12128031 1 185453884 [A/G] rs232298 1 185455790 [T/C] rs6696736 1 185472032 [A/G] rs12063048 1 185484309 [A/C] exm2263865 1 185484309 [A/C] rs6670762 1 185489752 [T/C] rs1407277 1 185500084 [A/G] rs2174296 1 185511423 [A/G] rs1321996 1 185515461 [A/G] rs10798019 1 185522687 [A/C] rs1321999 1 185524918 [A/G] rs11605 1 185527738 [T/C] NR_110793 LINC01350 EXON Silent rs556035 1 185533785 [T/C] NR_110793 LINC01350 Silent rs333724 1 185545130 [T/G] NR_110793 LINC01350 Silent rs567021 1 185554904 [T/C] NR_110793 LINC01350 Silent rs971224 1 185571933 [A/G] NR_110793 LINC01350 Silent rs1073470 1 185588484 [T/G] NR_110793 LINC01350 Silent rs12089482 1 185597494 [T/G] NR_110793 LINC01350 Silent rs1321991 1 185625971 [A/G] rs10489711 1 185644663 [T/C] rs1961519 1 185646286 [A/G] rs4651286 1 185675592 [T/C] rs900775 1 185689139 [T/C] exm131164 1 185703987 [T/C] NM_031935 HMCN1 EXON Missense_P26S rs4651287 1 185716964 [A/C] NM_031935 HMCN1 Silent rs10489713 1 185724616 [T/C] NM_031935 HMCN1 Silent rs6696804 1 185742967 [T/C] NM_031935 HMCN1 Silent rs1407428 1 185755609 [A/C] NM_031935 HMCN1 Silent rs6676629 1 185774781 [A/C] NM_031935 HMCN1 Silent rs4651288 1 185794315 [T/G] NM_031935 HMCN1 Silent rs7556537 1 185833565 [A/C] NM_031935 HMCN1 Silent exm131177 1 185833699 [A/G] NM_031935 HMCN1 EXON Missense_R146Q newrs149911074 1 185833761 [A/G] NM_031935 HMCN1 Silent exm131182 1 185834976 [A/G] NM_031935 HMCN1 EXON Missense_D201G rs6698721 1 185849364 [A/G] NM_031935 HMCN1 Silent rs12078444 1 185855289 [T/C] NM_031935 HMCN1 Silent rs16824658 1 185864512 [A/G] NM_031935 HMCN1 Silent exm131185 1 185878545 [T/C] NM_031935 HMCN1 EXON Missense_V233A exm131189 1 185878632 [A/G] NM_031935 HMCN1 EXON Missense_N262S variant.8927 1 185880917 [A/G] NM_031935 HMCN1 Silent exm2259892 1 185886151 [A/G] NM_031935 HMCN1 Silent exm131200 1 185891569 [A/G] NM_031935 HMCN1 EXON Missense_R320Q variant.8928 1 185891583 [T/C] NM_031935 HMCN1 EXON Nonsense_R325X exm131201 1 185891584 [A/G] NM_031935 HMCN1 EXON Missense_R325Q indel.8929 1 185891611 [I/D] NM_031935 HMCN1 EXON exm131219 1 185894295 [A/G] NM_031935 HMCN1 EXON Missense_V468I exm131223 1 185897727 [A/G] NM_031935 HMCN1 EXON Missense_E494K exm131226 1 185897782 [T/C] NM_031935 HMCN1 EXON Missense_T512I exm131228 1 185902710 [A/G] NM_031935 HMCN1 EXON Missense_N528D exm1741619 1 185902717 [T/C] NM_031935 HMCN1 EXON Missense_T530I exm131241 1 185931760 [A/G] NM_031935 HMCN1 EXON Missense_V647I exm131248 1 185934954 [T/G] NM_031935 HMCN1 EXON Missense_V707F exm131252 1 185934999 [A/G] NM_031935 HMCN1 EXON Missense_E722K exm131277 1 185951496 [A/G] NM_031935 HMCN1 EXON Missense_R922H exm131288 1 185956606 [T/C] NM_031935 HMCN1 EXON Missense_I993T exm131290 1 185956648 [A/T] NM_031935 HMCN1 EXON Missense_N1007I exm131295 1 185958737 [A/G] NM_031935 HMCN1 EXON Missense_T1056A exm131302 1 185959552 [T/G] NM_031935 HMCN1 EXON Missense_Q1118H exm131308 1 185962370 [A/G] NM_031935 HMCN1 EXON Missense_S1145N exm131311 1 185963964 [C/G] NM_031935 HMCN1 EXON Missense_R1175G exm131313 1 185963992 [T/C] NM_031935 HMCN1 EXON Missense_V1184A exm131321 1 185964136 [T/C] NM_031935 HMCN1 EXON Missense_T1232M exm131323 1 185964181 [T/C] NM_031935 HMCN1 EXON Missense_A1247V exm131325 1 185964205 [T/C] NM_031935 HMCN1 EXON Missense_T1255M exm1741671 1 185969311 [T/A] NM_031935 HMCN1 EXON Missense_I1337F indel.8936 1 185970497 [I/D] NM_031935 HMCN1 EXON exm131339 1 185970748 [A/C] NM_031935 HMCN1 EXON Missense_Q1408P exm131343 1 185972861 [A/G] NM_031935 HMCN1 EXON Missense_I1454V exm131345 1 185972906 [T/C] NM_031935 HMCN1 EXON Missense_R1469C exm131347 1 185972940 [T/C] NM_031935 HMCN1 EXON Missense_T1480I variant.8937 1 185972976 [A/G] NM_031935 HMCN1 EXON Missense_K1492R exm131356 1 185976370 [A/G] NM_031935 HMCN1 EXON Missense_N1529S exm131362 1 185984375 [A/G] NM_031935 HMCN1 EXON Missense_R1572Q exm131363 1 185984393 [A/C] NM_031935 HMCN1 EXON Missense_A1578D exm1741690 1 185984488 [A/G] NM_031935 HMCN1 EXON Missense_V1610I exm1741692 1 185985173 [C/G] NM_031935 HMCN1 EXON Missense_A1665P exm131374 1 185985176 [T/G] NM_031935 HMCN1 EXON Missense_A1666S exm131384 1 185985317 [A/G] NM_031935 HMCN1 EXON Missense_V1713M rs10911798 1 185987152 [A/G] NM_031935 HMCN1 Silent exm131393 1 185987370 [A/G] NM_031935 HMCN1 EXON Missense_N1786D exm131394 1 185988684 [A/G] NM_031935 HMCN1 EXON Missense_I1828V exm131398 1 185992187 [T/A] NM_031935 HMCN1 EXON Missense_Q1884L rs4141459 1 185995616 [T/C] NM_031935 HMCN1 Silent exm131407 1 186007990 [T/C] NM_031935 HMCN1 EXON Missense_L1961F exm131409 1 186007997 [T/G] NM_031935 HMCN1 EXON Missense_G1963V exm1741717 1 186008031 [G/C] NM_031935 HMCN1 EXON Missense_Q1974H exm131410 1 186008032 [A/G] NM_031935 HMCN1 EXON Missense_I1975V exm131422 1 186010203 [C/G] NM_031935 HMCN1 EXON Missense_R2080T exm131424 1 186010251 [T/A] NM_031935 HMCN1 EXON Missense_I2096N variant.8940 1 186014837 [T/G] NM_031935 HMCN1 EXON Nonsense_G2108X exm131430 1 186014876 [A/G] NM_031935 HMCN1 EXON Missense_V2121M exm131435 1 186017905 [T/C] NM_031935 HMCN1 EXON Missense_R2171C variant.8941 1 186022986 [T/C] NM_031935 HMCN1 EXON Nonsense_R2244X exm131451 1 186024570 [T/C] NM_031935 HMCN1 EXON Missense_I2303T exm1741742 1 186024579 [A/G] NM_031935 HMCN1 EXON Missense_R2306Q exm131458 1 186024643 [A/G] NM_031935 HMCN1 EXON Missense_M2327I exm131461 1 186024710 [A/C] NM_031935 HMCN1 EXON Missense_L2350M exm131462 1 186026366 [T/C] NM_031935 HMCN1 EXON Missense_A2382V exm131467 1 186026474 [T/C] NM_031935 HMCN1 EXON Missense_I2418T exm131470 1 186031015 [A/G] NM_031935 HMCN1 EXON Missense_M2449V exm131486 1 186031730 [A/C] NM_031935 HMCN1 EXON Missense_T2504K exm131488 1 186034371 [T/G] NM_031935 HMCN1 EXON Synonymous_G2505G exm131493 1 186034508 [T/C] NM_031935 HMCN1 EXON Missense_L2551S exm131494 1 186034533 [C/G] NM_031935 HMCN1 EXON Missense_K2559N exm131495 1 186036974 [A/G] NM_031935 HMCN1 EXON Missense_T2572A variant.8944 1 186038794 [A/G] NM_031935 HMCN1 Silent exm2232044 1 186038861 [T/C] NM_031935 HMCN1 EXON Missense_T2649M exm2273729 1 186038870 [T/C] NM_031935 HMCN1 EXON Missense_A2652V exm131530 1 186047262 [T/C] NM_031935 HMCN1 EXON Missense_R2837W variant.8945 1 186047352 [A/G] NM_031935 HMCN1 EXON Missense_V2867M rs10798035 1 186050417 [A/G] NM_031935 HMCN1 EXON Missense_E2893G exm131535 1 186050417 [A/G] NM_031935 HMCN1 EXON Missense_E2893G exm131537 1 186050503 [A/C] NM_031935 HMCN1 EXON Missense_L2922I exm131538 1 186050515 [T/C] NM_031935 HMCN1 EXON Nonsense_R2926X exm131540 1 186051998 [T/C] NM_031935 HMCN1 EXON Missense_I2930T exm131542 1 186052030 [T/G] NM_031935 HMCN1 EXON Missense_Y2941D exm131549 1 186055432 [A/C] NM_031935 HMCN1 EXON Missense_N2980T variant.8947 1 186055544 [A/G] NM_031935 HMCN1 Silent exm131566 1 186057092 [A/G] NM_031935 HMCN1 EXON Missense_R3131K exm131567 1 186057097 [A/G] NM_031935 HMCN1 EXON Missense_I3133V exm131573 1 186057353 [A/T] NM_031935 HMCN1 EXON Missense_D3174E variant.8949 1 186057408 [A/G] NM_031935 HMCN1 EXON Missense_E3193K exm131579 1 186057762 [A/G] NM_031935 HMCN1 EXON Missense_R3201H exm131582 1 186057846 [T/C] NM_031935 HMCN1 EXON Missense_M3229T exm131584 1 186057881 [A/G] NM_031935 HMCN1 EXON Missense_I3241V exm131588 1 186059966 [A/C] NM_031935 HMCN1 EXON Nonsense_C3268X exm131590 1 186059970 [C/G] NM_031935 HMCN1 EXON Missense_A3270P variant.8951 1 186060001 [A/G] NM_031935 HMCN1 EXON Nonsense_W3280X variant.8952 1 186060050 [A/G] NM_031935 HMCN1 Silent exm131598 1 186062307 [T/C] NM_031935 HMCN1 EXON Missense_L3310P exm131601 1 186062669 [T/C] NM_031935 HMCN1 EXON Missense_L3355S exm131602 1 186062678 [A/C] NM_031935 HMCN1 EXON Missense_T3358N exm2232047 1 186064438 [A/C] NM_031935 HMCN1 EXON Missense_T3453N exm131615 1 186064460 [T/G] NM_031935 HMCN1 EXON Missense_D3460E exm131621 1 186064554 [A/C] NM_031935 HMCN1 EXON Missense_Q3492K exm131623 1 186064612 [A/G] NM_031935 HMCN1 EXON Missense_E3511G exm131631 1 186072691 [T/G] NM_031935 HMCN1 EXON Missense_G3554V exm131633 1 186072727 [A/G] NM_031935 HMCN1 EXON Missense_G3566D newrs142687515 1 186072756 [T/C] NM_031935 HMCN1 EXON Nonsense_Q3576X exm131642 1 186077643 [T/C] NM_031935 HMCN1 EXON Missense_R3635W exm131648 1 186077722 [G/C] NM_031935 HMCN1 EXON Missense_R3661P var_1_186077734 1 186077734 [A/G] NM_031935 HMCN1 Silent exm131655 1 186081996 [A/G] NM_031935 HMCN1 EXON Missense_N3681S exm131656 1 186082008 [G/C] NM_031935 HMCN1 EXON Missense_G3685A exm131658 1 186083113 [T/C] NM_031935 HMCN1 EXON Missense_P3712S exm131661 1 186083185 [A/G] NM_031935 HMCN1 EXON Missense_A3736T exm131662 1 186083210 [T/A] NM_031935 HMCN1 EXON Missense_I3744K exm131667 1 186084007 [T/C] NM_031935 HMCN1 EXON Missense_T3778I exm131670 1 186084051 [T/C] NM_031935 HMCN1 EXON Missense_R3793C newrs150673369 1 186084057 [T/C] NM_031935 HMCN1 EXON Nonsense_R3795X exm131674 1 186084408 [T/C] NM_031935 HMCN1 EXON Missense_P3808L exm2250374 1 186086204 [T/C] NM_031935 HMCN1 EXON Synonymous_N3880N exm131684 1 186086229 [A/G] NM_031935 HMCN1 EXON Missense_V3889M exm131688 1 186086629 [G/C] NM_031935 HMCN1 EXON Missense_V3908L exm131690 1 186086710 [A/G] NM_031935 HMCN1 EXON Missense_I3935V exm131700 1 186088379 [A/G] NM_031935 HMCN1 EXON Missense_A3969T exm131701 1 186088412 [A/G] NM_031935 HMCN1 EXON Missense_V3980M exm131703 1 186088994 [A/G] NM_031935 HMCN1 EXON Missense_G4025D exm131704 1 186089000 [A/G] NM_031935 HMCN1 EXON Missense_N4027S exm131714 1 186092103 [T/C] NM_031935 HMCN1 EXON Missense_H4084Y exm131724 1 186094772 [T/C] NM_031935 HMCN1 EXON Missense_T4179M exm131727 1 186094807 [A/G] NM_031935 HMCN1 EXON Missense_V4191I exm131731 1 186094885 [A/G] NM_031935 HMCN1 EXON Missense_T4217A exm131737 1 186097265 [T/C] NM_031935 HMCN1 EXON Missense_T4249I rs6673390 1 186097908 [A/G] NM_031935 HMCN1 Silent exm2250375 1 186097908 [A/G] NM_031935 HMCN1 Silent exm131743 1 186099099 [T/C] NM_031935 HMCN1 EXON Synonymous_A4302A exm131745 1 186099134 [T/C] NM_031935 HMCN1 EXON Missense_V4314A exm131746 1 186099158 [T/A] NM_031935 HMCN1 EXON Missense_D4322V variant.8959 1 186099234 [T/G] NM_031935 HMCN1 Silent variant.8960 1 186099237 [A/G] NM_031935 HMCN1 Silent exm131754 1 186099654 [A/G] NM_031935 HMCN1 EXON Missense_K4352R exm131767 1 186101539 [A/G] NM_031935 HMCN1 EXON Missense_Q4437R rs10911825 1 186101539 [A/G] NM_031935 HMCN1 EXON Missense_Q4437R exm131770 1 186105800 [A/G] NM_031935 HMCN1 EXON Missense_S4438N exm131776 1 186105949 [A/G] NM_031935 HMCN1 EXON Missense_V4488M exm131792 1 186107048 [A/G] NM_031935 HMCN1 EXON Missense_R4623Q exm131797 1 186113330 [C/G] NM_031935 HMCN1 EXON Missense_Q4650H exm131802 1 186113475 [A/G] NM_031935 HMCN1 EXON Missense_I4699V exm131804 1 186113680 [T/C] NM_031935 HMCN1 EXON Missense_A4704V exm131807 1 186113727 [A/G] NM_031935 HMCN1 EXON Missense_A4720T rs6693069 1 186113727 [A/G] NM_031935 HMCN1 EXON Missense_A4720T exm131816 1 186114591 [A/G] NM_031935 HMCN1 EXON Missense_G4775R exm131818 1 186114604 [A/G] NM_031935 HMCN1 EXON Missense_R4779Q exm2273730 1 186114969 [A/G] NM_031935 HMCN1 EXON Missense_C4841Y rs1322376 1 186120139 [T/G] NM_031935 HMCN1 Silent exm131828 1 186120449 [A/G] NM_031935 HMCN1 EXON Missense_R4909H exm131829 1 186120461 [A/C] NM_031935 HMCN1 EXON Missense_T4913N exm131845 1 186121996 [T/C] NM_031935 HMCN1 EXON Missense_T5004I exm131848 1 186122972 [T/C] NM_031935 HMCN1 EXON Missense_Y5037H exm131850 1 186123075 [T/G] NM_031935 HMCN1 EXON Missense_I5071R rs7545010 1 186126099 [A/G] NM_031935 HMCN1 Silent rs2208692 1 186133290 [A/C] NM_031935 HMCN1 Silent exm131854 1 186134246 [T/A] NM_031935 HMCN1 EXON Missense_D5087V exm2250376 1 186135389 [T/C] NM_031935 HMCN1 EXON Synonymous_S5131S exm131856 1 186135389 [T/C] NM_031935 HMCN1 EXON Synonymous_S5131S exm131857 1 186135415 [T/C] NM_031935 HMCN1 EXON Missense_A5140V exm131863 1 186136015 [A/G] NM_031935 HMCN1 EXON Missense_R5172H rs2383457 1 186136572 [T/C] NM_031935 HMCN1 Silent exm131872 1 186140507 [T/C] NM_031935 HMCN1 EXON Missense_R5205C exm131873 1 186140508 [A/G] NM_031935 HMCN1 EXON Missense_R5205H variant.8963 1 186140587 [T/G] NM_031935 HMCN1 Silent exm131876 1 186141181 [G/C] NM_031935 HMCN1 EXON Missense_H5244Q exm131878 1 186141213 [T/C] NM_031935 HMCN1 EXON Missense_I5255T exm131890 1 186147638 [A/G] NM_031935 HMCN1 EXON Missense_Q5345R rs10911836 1 186149235 [T/C] NM_031935 HMCN1 Silent exm131897 1 186151323 [A/G] NM_031935 HMCN1 EXON Missense_D5440N exm131899 1 186151390 [A/G] NM_031935 HMCN1 EXON Missense_Q5462R exm131904 1 186157060 [A/G] NM_031935 HMCN1 EXON Missense_R5487H exm131911 1 186158717 [A/G] NM_031935 HMCN1 EXON Missense_V5539I exm131914 1 186158759 [T/C] NM_031935 HMCN1 EXON Missense_R5553W exm131926 1 186158925 [A/G] NM_031935 HMCN1 EXON Missense_R5608Q variant.8967 1 186158957 [T/G] NM_031935 HMCN1 EXON Nonsense_E5619X rs857753 1 186168281 [T/C] rs6666859 1 186182156 [T/C] rs6676055 1 186190163 [T/C] rs585738 1 186199641 [A/G] rs639524 1 186225257 [A/G] rs1285115 1 186237510 [T/C] rs1795022 1 186247924 [A/G] exm2250377 1 186257518 [T/G] rs1293970 1 186258229 [A/G] exm131936 1 186266014 [T/C] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_W3R,Missense_W3R,Missense_W3R,Missense_W3R,Missense_W3R exm131945 1 186269331 [A/G] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_R62K,Missense_R62K,Missense_R62K,Silent,Silent exm131946 1 186269343 [T/C] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_A66V,Missense_A66V,Missense_A66V,Silent,Silent exm131947 1 186269344 [A/G] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Synonymous_A66A,Synonymous_A66A,Synonymous_A66A,Silent,Silent rs2273779 1 186273994 [T/C] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_R180W,Silent,Silent,Silent,Missense_R139W exm131964 1 186273994 [T/C] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_R180W,Silent,Silent,Silent,Missense_R139W exm131965 1 186273995 [A/G] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_R180Q,Silent,Silent,Silent,Missense_R139Q exm131973 1 186275510 [A/C] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_D220A,Missense_D177A,Missense_D127A,Missense_D86A,Missense_D179A exm131976 1 186275564 [T/C] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_T238M,Missense_T195M,Missense_T145M,Missense_T104M,Missense_T197M exm131983 1 186275744 [A/C] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_T298N,Missense_T255N,Missense_T205N,Missense_T164N,Missense_T257N indel.8973 1 186275833 [I/D] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON exm131987 1 186275857 [A/G] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_E336K,Missense_E293K,Missense_E243K,Missense_E202K,Missense_E295K exm132080 1 186276895 [T/C] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_P682S,Missense_P639S,Missense_P589S,Missense_P548S,Missense_P641S exm132091 1 186277088 [G/C] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_C746S,Missense_C703S,Missense_C653S,Missense_C612S,Missense_C705S exm132104 1 186277313 [T/C] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_T821I,Missense_T778I,Missense_T728I,Missense_T687I,Missense_T780I exm132114 1 186277568 [T/C] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_A906V,Missense_A863V,Missense_A813V,Missense_A772V,Missense_A865V exm132118 1 186277625 [A/G] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_R925H,Missense_R882H,Missense_R832H,Missense_R791H,Missense_R884H indel.8977 1 186277656 [I/D] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON exm1742059 1 186277811 [T/C] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_T987I,Missense_T944I,Missense_T894I,Missense_T853I,Missense_T946I indel.8978 1 186277879 [I/D] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON exm132130 1 186278008 [T/C] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_R1053C,Missense_R1010C,Missense_R960C,Missense_R919C,Missense_R1012C exm132141 1 186278212 [A/G] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_D1121N,Missense_D1078N,Missense_D1028N,Missense_D987N,Missense_D1080N exm132142 1 186278219 [A/C] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_D1123A,Missense_D1080A,Missense_D1030A,Missense_D989A,Missense_D1082A exm132146 1 186278240 [A/G] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_N1130S,Missense_N1087S,Missense_N1037S,Missense_N996S,Missense_N1089S 1KG_1_186278960 1 186278960 [D/I] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON exm132155 1 186280235 [A/G] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708 PRG4,PRG4,PRG4,PRG4,PRG4 EXON Missense_G1190D,Missense_G1147D,Missense_G1097D,Missense_G1056D,Missense_G1149D exm132160 1 186281328 [T/C] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708,NM_003292 PRG4,PRG4,PRG4,PRG4,PRG4,TPR EXON Missense_I1272T,Missense_I1229T,Missense_I1179T,Missense_I1138T,Missense_I1231T,Silent exm132163 1 186281400 [T/C] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708,NM_003292 PRG4,PRG4,PRG4,PRG4,PRG4,TPR EXON Missense_T1296M,Missense_T1253M,Missense_T1203M,Missense_T1162M,Missense_T1255M,Silent exm132164 1 186281429 [T/C] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708,NM_003292 PRG4,PRG4,PRG4,PRG4,PRG4,TPR EXON Missense_R1306C,Missense_R1263C,Missense_R1213C,Missense_R1172C,Missense_R1265C,Silent exm132167 1 186281477 [T/C] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708,NM_003292 PRG4,PRG4,PRG4,PRG4,PRG4,TPR EXON Missense_P1322S,Missense_P1279S,Missense_P1229S,Missense_P1188S,Missense_P1281S,Silent newrs150684195 1 186281504 [A/G] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708,NM_003292 PRG4,PRG4,PRG4,PRG4,PRG4,TPR EXON Missense_G1331S,Missense_G1288S,Missense_G1238S,Missense_G1197S,Missense_G1290S,Silent rs7756 1 186281696 [T/G] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708,NM_003292 PRG4,PRG4,PRG4,PRG4,PRG4,TPR EXON Silent,Silent,Silent,Silent,Silent,Silent exm132178 1 186282840 [A/G] NM_005807,NM_001303232,NM_001127709,NM_001127710,NM_001127708,NM_003292 PRG4,PRG4,PRG4,PRG4,PRG4,TPR EXON Missense_S1382N,Missense_S1339N,Missense_S1289N,Missense_S1248N,Missense_S1341N,Silent exm132198 1 186289510 [A/G] NM_003292 TPR EXON Missense_P2168S rs10494584 1 186290521 [T/C] NM_003292 TPR Silent variant.8983 1 186301322 [T/C] NM_003292 TPR Silent exm132249 1 186305720 [T/C] NM_003292 TPR EXON Missense_Q1538R exm132258 1 186307204 [A/G] NM_003292 TPR EXON Synonymous_Y1441Y exm2250379 1 186307204 [A/G] NM_003292 TPR EXON Synonymous_Y1441Y exm132263 1 186308832 [T/A] NM_003292 TPR EXON Missense_T1365S exm132287 1 186313108 [T/C] NM_003292 TPR EXON Missense_V1178I exm132289 1 186313129 [T/C] NM_003292 TPR EXON Missense_V1171I exm132291 1 186313197 [T/C] NM_003292 TPR EXON Missense_R1148H exm132303 1 186314809 [A/G] NM_003292 TPR EXON Missense_T1039I exm132305 1 186315315 [T/G] NM_003292 TPR EXON Missense_Q1016H exm1742138 1 186316436 [A/G] NM_003292 TPR EXON Synonymous_N977N exm132308 1 186316488 [T/C] NM_003292 TPR EXON Missense_S960N exm132310 1 186316510 [T/C] NM_003292 TPR EXON Missense_E953K exm132313 1 186316561 [T/C] NM_003292 TPR EXON Missense_D936N exm132317 1 186319387 [A/G] NM_003292 TPR EXON Missense_V915A exm132322 1 186320462 [A/G] NM_003292 TPR EXON Synonymous_D870D exm132323 1 186320479 [A/G] NM_003292 TPR EXON Missense_L865F exm132334 1 186321242 [T/C] NM_003292 TPR EXON Missense_V779I exm132336 1 186322869 [A/G] NM_003292 TPR EXON Missense_T762M exm132341 1 186324810 [A/G] NM_003292 TPR EXON Missense_I660T exm132344 1 186324861 [T/C] NM_003292 TPR EXON Missense_K643R exm132347 1 186324888 [T/C] NM_003292 TPR EXON Missense_D634G variant.8986 1 186326529 [T/C] NM_003292 TPR EXON Missense_K575R exm132372 1 186329959 [A/G] NM_003292 TPR EXON Missense_I346T rs10494586 1 186330643 [T/C] NM_003292 TPR Silent exm132375 1 186330768 [T/C] NM_003292 TPR EXON Missense_K315R exm1742168 1 186330810 [T/C] NM_003292 TPR EXON Missense_N301S exm132386 1 186332066 [T/G] NM_003292 TPR EXON Missense_E200A exm132391 1 186337028 [A/T] NM_003292 TPR EXON Missense_E139D variant.8989 1 186340102 [T/C] NM_003292 TPR EXON Synonymous_Q110Q exm132394 1 186340119 [A/G] NM_003292 TPR EXON Missense_R105C var_1_186342491 1 186342491 [T/C] NM_003292 TPR EXON Missense_N86D exm2232075 1 186342527 [T/C] NM_003292 TPR EXON Missense_E74K rs2297226 1 186343759 [A/G] NM_003292 TPR Silent exm1742184 1 186344126 [A/G] NM_003292 TPR EXON Missense_T12M exm132413 1 186352203 [A/G] NM_017847,NM_001164246,NM_001164245 ODR4,ODR4,ODR4 EXON Missense_K50R,Missense_K50R,Missense_K50R exm132416 1 186355168 [A/G] NM_017847,NM_001164246,NM_001164245 ODR4,ODR4,ODR4 EXON Missense_I95V,Silent,Missense_I95V exm132421 1 186359924 [A/G] NM_017847,NM_001164246,NM_001164245 ODR4,ODR4,ODR4 EXON Missense_N186D,Missense_N154D,Missense_N186D exm132431 1 186363119 [G/C] NM_017847,NM_001164246,NM_001164245 ODR4,ODR4,ODR4 EXON Missense_S251C,Missense_S219C,Silent variant.8992 1 186363152 [A/G] NM_017847,NM_001164246,NM_001164245 ODR4,ODR4,ODR4 Silent,Silent,Silent exm132443 1 186368092 [A/C] NM_017847,NM_001164246,NM_001164245 ODR4,ODR4,ODR4 EXON Missense_K306Q,Missense_K274Q,Missense_K283Q variant.8993 1 186370197 [T/G] NM_017847,NM_001164246,NM_001164245,NM_022375 ODR4,ODR4,ODR4,OCLM EXON Silent,Silent,Silent,Nonsense_L7X exm132448 1 186370281 [C/G] NM_017847,NM_001164246,NM_001164245,NM_022375 ODR4,ODR4,ODR4,OCLM EXON Silent,Silent,Silent,Missense_S35C rs11806304 1 186372865 [A/G] NM_017847,NM_001164246,NM_001164245 ODR4,ODR4,ODR4 Silent,Silent,Silent exm132450 1 186375235 [A/G] NM_017847,NM_001164246,NM_001164245 ODR4,ODR4,ODR4 EXON Missense_V341I,Missense_V309I,Missense_V318I exm132455 1 186375305 [A/G] NM_017847,NM_001164246,NM_001164245 ODR4,ODR4,ODR4 EXON Missense_D364G,Missense_D332G,Missense_D341G exm132457 1 186375340 [A/G] NM_017847,NM_001164246,NM_001164245 ODR4,ODR4,ODR4 EXON Missense_E376K,Missense_E344K,Missense_E353K rs6665157 1 186379265 [A/G] NM_017847,NM_001164246,NM_001164245 ODR4,ODR4,ODR4 Silent,Silent,Silent rs7547924 1 186380442 [A/G] NM_017847,NM_001164246,NM_001164245 ODR4,ODR4,ODR4 Silent,Silent,Silent variant.8995 1 186413185 [A/C] NR_126002,NM_022576,NM_002597 LOC102724919,PDC,PDC EXON Silent,Nonsense_E171X,Nonsense_E223X variant.8996 1 186413221 [A/C] NR_126002,NM_022576,NM_002597 LOC102724919,PDC,PDC EXON Silent,Nonsense_E159X,Nonsense_E211X indel.8997 1 186413270 [I/D] NR_126002,NM_022576,NM_002597 LOC102724919,PDC,PDC EXON exm132491 1 186415571 [T/C] NR_126002,NM_022576,NM_002597 LOC102724919,PDC,PDC EXON Silent,Missense_R15Q,Missense_R67Q rs12407957 1 186418600 [T/C] NR_126002,NM_002597 LOC102724919,PDC EXON Silent,Silent rs11801527 1 186418798 [A/G] NR_126002,NM_002597 LOC102724919,PDC Silent,Silent rs3131557 1 186441585 [T/G] rs12062743 1 186447591 [T/C] rs3901950 1 186467274 [T/C] rs12072014 1 186474889 [T/C] rs3863719 1 186483596 [T/G] rs7550953 1 186509790 [A/G] rs7542810 1 186532231 [A/G] rs6677346 1 186540762 [A/G] rs4651315 1 186557453 [A/G] rs6658482 1 186598526 [T/C] rs7514491 1 186599018 [T/C] rs2383513 1 186599524 [T/C] rs10489398 1 186599542 [A/G] rs10911898 1 186612593 [T/G] exm-rs10911902 1 186632317 [T/C] rs689470 1 186641058 [A/G] NM_000963 PTGS2 EXON Silent rs689468 1 186641265 [T/C] NM_000963 PTGS2 EXON Silent rs5275 1 186643058 [A/G] NM_000963 PTGS2 EXON Silent exm132497 1 186643541 [T/C] NM_000963 PTGS2 EXON Missense_G587R exm132505 1 186643768 [A/G] NM_000963 PTGS2 EXON Missense_V511A exm132507 1 186643853 [T/C] NM_000963 PTGS2 EXON Missense_D483N exm132522 1 186645304 [T/C] NM_000963 PTGS2 EXON Missense_K328R exm132531 1 186645828 [T/C] NM_000963 PTGS2 EXON Missense_M247I exm2232078 1 186646005 [T/C] NM_000963 PTGS2 EXON Missense_R228H exm2232079 1 186646887 [T/C] NM_000963 PTGS2 EXON Missense_Q178R variant.9000 1 186648454 [A/G] NM_000963 PTGS2 EXON Missense_P57S rs12064238 1 186659125 [T/C] rs964570 1 186684977 [T/C] rs6685280 1 186685818 [A/C] rs4650701 1 186704555 [A/G] exm-rs4140564 1 186725003 [A/G] rs10752974 1 186744874 [T/C] rs16825875 1 186745922 [A/G] rs10489402 1 186746556 [A/C] rs7554410 1 186767992 [T/G] rs926324 1 186784505 [A/G] rs6685652 1 186831728 [A/C] NM_001311193,NM_024420 PLA2G4A,PLA2G4A Silent,Silent variant.9001 1 186839648 [A/C] NM_001311193,NM_024420 PLA2G4A,PLA2G4A EXON Missense_L39I,Missense_L39I rs2223307 1 186844926 [T/C] NM_001311193,NM_024420 PLA2G4A,PLA2G4A Silent,Silent rs1980444 1 186850960 [T/C] NM_001311193,NM_024420 PLA2G4A,PLA2G4A Silent,Silent rs2049963 1 186851216 [A/G] NM_001311193,NM_024420 PLA2G4A,PLA2G4A Silent,Silent rs16826060 1 186855555 [T/C] NM_001311193,NM_024420 PLA2G4A,PLA2G4A Silent,Silent rs12042344 1 186858135 [T/C] NM_001311193,NM_024420 PLA2G4A,PLA2G4A Silent,Silent exm132573 1 186863287 [A/T] NM_001311193,NM_024420 PLA2G4A,PLA2G4A EXON Missense_T108S,Missense_T108S exm132574 1 186863320 [A/G] NM_001311193,NM_024420 PLA2G4A,PLA2G4A EXON Missense_E119K,Missense_E119K rs10911952 1 186868740 [T/C] NM_001311193,NM_024420 PLA2G4A,PLA2G4A Silent,Silent rs10798069 1 186875459 [T/G] NM_001311193,NM_024420 PLA2G4A,PLA2G4A Silent,Silent rs6686848 1 186887107 [A/C] NM_001311193,NM_024420 PLA2G4A,PLA2G4A Silent,Silent rs12726519 1 186898065 [T/C] NM_001311193,NM_024420 PLA2G4A,PLA2G4A Silent,Silent rs6697145 1 186910591 [T/C] NM_001311193,NM_024420 PLA2G4A,PLA2G4A Silent,Silent rs11587539 1 186915177 [T/A] NM_001311193,NM_024420 PLA2G4A,PLA2G4A Silent,Silent variant.9003 1 186916098 [T/C] NM_001311193,NM_024420 PLA2G4A,PLA2G4A Silent,Silent rs10489409 1 186920114 [T/C] NM_001311193,NM_024420 PLA2G4A,PLA2G4A Silent,Silent exm132609 1 186925334 [C/G] NM_001311193,NM_024420 PLA2G4A,PLA2G4A EXON Missense_F419L,Missense_F479L exm132614 1 186934559 [A/G] NM_001311193,NM_024420 PLA2G4A,PLA2G4A EXON Missense_R473Q,Missense_R533Q rs12353944 1 186941897 [T/C] NM_001311193,NM_024420 PLA2G4A,PLA2G4A Silent,Silent exm2259894 1 186946386 [T/G] NM_001311193,NM_024420 PLA2G4A,PLA2G4A Silent,Silent exm132621 1 186946869 [A/G] NM_001311193,NM_024420 PLA2G4A,PLA2G4A EXON Missense_I577V,Missense_I637V exm132622 1 186946912 [A/G] NM_001311193,NM_024420 PLA2G4A,PLA2G4A EXON Missense_R591K,Missense_R651K exm132623 1 186948448 [T/G] NM_001311193,NM_024420 PLA2G4A,PLA2G4A EXON Synonymous_G594G,Synonymous_G654G rs10489410 1 186954195 [T/G] NM_001311193,NM_024420 PLA2G4A,PLA2G4A Silent,Silent rs761517 1 186961387 [A/G] rs2144000 1 186967242 [A/G] rs10798078 1 186967702 [A/G] rs10752993 1 186981339 [T/C] rs12735309 1 186984283 [T/C] exm2268797 1 186985141 [T/C] rs6665890 1 186996815 [T/C] rs1884022 1 187002419 [A/C] rs7540422 1 187005310 [A/G] rs12566615 1 187007181 [T/C] rs1160832 1 187013915 [A/C] rs12569046 1 187032137 [T/C] rs1297671 1 187033639 [T/C] rs10911992 1 187039464 [T/C] rs1297676 1 187041011 [T/C] rs17545182 1 187055323 [T/G] rs7511950 1 187055561 [A/G] rs10911997 1 187057636 [A/C] rs230629 1 187073950 [T/G] NR_126347 LINC01036 Silent rs2383574 1 187081199 [A/G] NR_126347 LINC01036 Silent rs230619 1 187082330 [T/G] NR_126347 LINC01036 Silent rs1924736 1 187092482 [A/G] NR_126347 LINC01036 Silent rs12047450 1 187095959 [A/C] NR_126347 LINC01036 Silent rs391391 1 187097401 [A/G] NR_126347 LINC01036 Silent rs12065268 1 187114753 [T/C] NR_126347 LINC01036 Silent rs7545246 1 187131218 [T/G] NR_126347 LINC01036 Silent rs4650720 1 187133540 [T/C] NR_126347 LINC01036 Silent rs12133085 1 187135612 [A/C] NR_126347 LINC01036 Silent rs1924724 1 187154470 [T/C] NR_126347 LINC01036 Silent rs10494592 1 187158604 [T/G] NR_126347 LINC01036 Silent rs2209363 1 187163851 [T/C] NR_126347 LINC01036 Silent rs2025513 1 187173215 [A/C] NR_126347 LINC01036 Silent rs330708 1 187183135 [A/G] NR_126347 LINC01036 Silent rs330725 1 187208014 [T/C] NR_126347 LINC01036 Silent rs330723 1 187223137 [T/C] NR_126347 LINC01036 Silent rs7547443 1 187229039 [T/C] NR_126347 LINC01036 Silent rs170708 1 187239805 [A/G] NR_126347 LINC01036 Silent rs16826609 1 187245487 [A/G] NR_126347 LINC01036 Silent rs2453727 1 187247150 [T/C] NR_126347 LINC01036 Silent rs6658044 1 187258353 [T/G] NR_126347 LINC01036 Silent rs4144116 1 187267411 [A/G] NR_126347 LINC01036 Silent rs12027998 1 187268646 [A/G] NR_126347 LINC01036 Silent exm2265065 1 187278646 [A/G] NR_126347 LINC01036 Silent rs1874414 1 187279324 [T/C] NR_126347 LINC01036 Silent rs10798106 1 187309604 [A/C] NR_126347 LINC01036 Silent rs16826764 1 187310570 [A/G] NR_126347 LINC01036 Silent rs1148759 1 187312447 [A/C] NR_126347 LINC01036 Silent rs2800913 1 187326714 [A/C] NR_126347 LINC01036 Silent rs2802475 1 187327396 [A/G] NR_126347 LINC01036 Silent rs2802474 1 187328545 [A/G] NR_126347 LINC01036 Silent rs10912054 1 187329185 [T/C] NR_126347 LINC01036 EXON Silent rs1285513 1 187333447 [T/C] rs12033946 1 187348438 [T/G] rs12027637 1 187352093 [T/G] rs10912059 1 187354887 [A/G] rs10798107 1 187362785 [T/C] rs4651374 1 187363621 [A/G] rs4650729 1 187379326 [A/G] rs4651378 1 187384477 [T/C] rs12145400 1 187386201 [A/G] rs12121531 1 187397003 [A/G] rs6696686 1 187397277 [A/G] rs1938515 1 187402854 [A/G] rs2490407 1 187406532 [T/C] rs2490327 1 187416536 [A/G] NR_132374 LINC01037 Silent rs4651384 1 187418404 [A/G] NR_132374 LINC01037 Silent rs1938512 1 187422872 [A/C] NR_132374 LINC01037 Silent rs12137534 1 187428231 [A/G] NR_132374 LINC01037 Silent rs2249521 1 187435132 [T/C] NR_132374 LINC01037 Silent rs10753005 1 187443751 [A/G] NR_132374 LINC01037 Silent rs7554573 1 187461719 [T/C] exm2268798 1 187483206 [T/C] rs4593773 1 187483206 [T/C] rs7535036 1 187492543 [A/G] rs1361298 1 187498538 [T/C] rs1416476 1 187500338 [T/C] rs10798116 1 187501925 [T/C] rs2891285 1 187522674 [T/C] rs17544558 1 187530283 [A/C] rs2802752 1 187531473 [A/G] rs2789391 1 187533898 [T/C] rs1572725 1 187537208 [A/G] rs7539308 1 187552208 [A/G] rs12127474 1 187557096 [T/C] rs1578097 1 187565339 [T/C] rs2383658 1 187581303 [A/G] rs11809135 1 187584447 [T/C] rs1106962 1 187595914 [A/C] rs10798126 1 187601186 [A/G] rs12058310 1 187602253 [T/G] rs6686651 1 187607223 [A/G] rs955835 1 187609850 [T/C] rs2066081 1 187615141 [A/G] rs10912115 1 187623942 [A/G] rs12749748 1 187623971 [T/C] rs10494603 1 187630186 [T/G] rs10912140 1 187647751 [A/G] rs2891292 1 187652296 [T/C] rs2050741 1 187669092 [T/G] exm-rs3120970 1 187675285 [A/G] rs1538478 1 187676040 [A/C] rs6685655 1 187677162 [A/G] rs11800915 1 187684427 [T/G] rs10912148 1 187687844 [T/C] rs4233131 1 187693731 [A/C] rs10798137 1 187699152 [T/C] rs4622024 1 187703817 [T/C] rs10912155 1 187704353 [T/C] rs10912160 1 187711717 [A/G] rs4418543 1 187715194 [T/C] rs7546941 1 187725317 [A/G] rs2495445 1 187732601 [A/C] rs1158512 1 187744623 [T/C] rs967778 1 187748399 [T/C] rs967776 1 187748759 [T/C] rs10912174 1 187749447 [T/C] rs6664686 1 187757027 [T/C] rs2430096 1 187763860 [T/G] rs10798148 1 187779509 [T/C] rs2495474 1 187813938 [T/G] rs2495469 1 187817247 [A/G] rs2430144 1 187823537 [A/G] rs10489379 1 187832346 [T/C] rs2430132 1 187834475 [A/G] rs2430130 1 187840501 [T/C] rs10798153 1 187852822 [A/G] rs800805 1 187859825 [T/C] rs800801 1 187862656 [T/C] rs2311063 1 187870452 [A/G] rs11591211 1 187872751 [T/G] rs776798 1 187888876 [A/G] rs776797 1 187888914 [A/G] rs655167 1 187902981 [A/G] rs1572508 1 187912763 [A/G] rs4650748 1 187920237 [A/G] rs12733186 1 187934869 [T/C] rs10912216 1 187946548 [A/G] rs12564137 1 187950418 [T/G] rs7543364 1 187967161 [A/C] rs10912219 1 187976838 [T/C] rs613118 1 187988077 [A/G] rs11801907 1 187992993 [A/G] rs12137769 1 188018355 [A/C] kgp3831162 1 188019061 [A/G] rs1432427 1 188023515 [T/C] exm2264933 1 188071966 [A/G] rs10489764 1 188085833 [T/C] rs7546596 1 188086156 [T/C] rs12137000 1 188099917 [T/G] rs12042467 1 188103345 [T/C] rs12048287 1 188114531 [T/C] rs354246 1 188124227 [T/G] rs1032215 1 188124446 [A/C] rs7542386 1 188124666 [A/G] rs12140392 1 188154257 [A/C] rs1487492 1 188162030 [A/G] rs1906255 1 188172047 [A/G] rs12044617 1 188172757 [A/G] rs1825798 1 188190768 [T/C] rs1994423 1 188215107 [T/C] rs3010654 1 188248649 [T/C] rs1386560 1 188250062 [T/C] rs1487489 1 188250810 [T/C] rs12030453 1 188267144 [A/C] rs2067988 1 188273214 [T/C] exm2268959 1 188275062 [T/C] rs4463623 1 188300868 [T/C] rs1489256 1 188324516 [A/G] rs1387343 1 188328650 [T/C] rs12036328 1 188338756 [A/G] rs12125250 1 188379428 [A/C] rs10798210 1 188384464 [T/C] rs10912385 1 188413159 [T/G] rs9988491 1 188423382 [A/G] rs12091277 1 188440351 [A/G] rs10912414 1 188455409 [T/C] rs1489267 1 188456430 [A/G] rs6680448 1 188458893 [A/G] rs6656158 1 188458988 [T/C] rs284077 1 188465943 [T/C] rs2220034 1 188467273 [A/G] rs12038869 1 188469106 [T/C] rs284113 1 188477749 [T/G] rs284131 1 188484287 [A/C] rs12732082 1 188485563 [A/G] rs1489241 1 188486435 [T/C] rs10494614 1 188532630 [T/C] rs1609772 1 188553599 [A/C] rs2312286 1 188561149 [T/C] rs10798231 1 188562024 [A/G] rs12082345 1 188620700 [T/C] rs12033740 1 188624613 [A/G] rs2312283 1 188629757 [A/G] rs7539920 1 188650160 [T/C] rs1902895 1 188664093 [A/G] rs7546736 1 188665662 [T/C] rs6665576 1 188694491 [A/C] rs12758150 1 188700069 [T/C] rs12134565 1 188705079 [A/G] rs10754227 1 188735336 [T/G] rs6670462 1 188736617 [A/G] rs4439360 1 188751380 [T/G] exm2268799 1 188755011 [T/C] rs4417067 1 188761359 [A/G] rs4551597 1 188764543 [T/C] rs7519600 1 188793472 [A/G] rs1445660 1 188825570 [T/C] rs16829440 1 188826462 [T/C] exm2268960 1 188835473 [T/G] rs1031191 1 188835473 [T/G] rs16829456 1 188836200 [A/G] rs7548521 1 188844768 [T/C] rs6660722 1 188862962 [A/G] rs16829527 1 188870483 [A/G] rs6428035 1 188884571 [A/G] rs7355001 1 188887177 [A/G] kgp6532737 1 188888226 [A/G] kgp15655593 1 188888360 [A/G] rs10920995 1 188946679 [T/C] rs7550535 1 188983626 [T/C] rs2861427 1 188984321 [T/G] rs12738395 1 188993946 [T/C] rs1912920 1 189012899 [A/C] exm2268800 1 189022599 [T/G] rs4388707 1 189034234 [A/G] rs10921204 1 189036365 [T/C] rs1912915 1 189045079 [T/C] rs7518946 1 189069537 [A/G] rs1912937 1 189100707 [A/C] rs10921341 1 189112184 [A/G] rs1912933 1 189123194 [A/G] rs7515205 1 189128124 [A/G] rs1891457 1 189159261 [A/G] rs7527682 1 189172684 [A/G] rs11801708 1 189187918 [T/G] rs10458404 1 189188538 [T/C] rs6694860 1 189189282 [A/C] rs10921627 1 189238665 [A/G] rs12135892 1 189276962 [T/C] rs1361011 1 189282802 [A/G] rs10921762 1 189284520 [A/G] rs6678596 1 189286113 [A/C] rs12747712 1 189301911 [T/C] rs10921875 1 189337997 [A/C] rs16830499 1 189350700 [T/C] rs1148606 1 189389416 [T/C] rs10754190 1 189428501 [T/C] rs816812 1 189435354 [T/C] rs3860306 1 189437182 [T/C] rs7537185 1 189496667 [A/G] rs269743 1 189503853 [A/G] rs12071479 1 189512884 [T/C] rs1393495 1 189523135 [A/G] rs367510 1 189527897 [A/C] rs269747 1 189542729 [A/G] rs421604 1 189548411 [T/C] rs445857 1 189552579 [A/G] exm2264934 1 189552579 [A/G] exm2265066 1 189574444 [A/G] rs7532675 1 189587034 [T/C] rs10489759 1 189589339 [T/C] rs6672054 1 189602917 [T/C] rs532905 1 189620278 [T/C] exm-rs532905 1 189620278 [T/C] rs473773 1 189627183 [T/C] rs480025 1 189630723 [T/C] rs479137 1 189653244 [A/G] rs485028 1 189667459 [T/C] rs2902583 1 189678231 [T/G] rs10800627 1 189721806 [A/G] exm-rs10737562 1 189723623 [A/G] rs11586173 1 189755774 [A/G] rs4845149 1 189772005 [T/G] rs10919787 1 189775505 [A/G] rs2418511 1 189779629 [T/G] rs9427700 1 189781569 [A/G] rs2039776 1 189785489 [A/G] rs10737568 1 189790108 [A/G] rs12138327 1 189791316 [T/C] rs2176360 1 189816957 [T/C] rs12062955 1 189836689 [T/G] rs6693137 1 189846139 [T/C] rs12402777 1 189855850 [A/G] rs7539739 1 189865412 [A/G] rs10920093 1 189878303 [A/C] rs6413913 1 189878594 [A/G] rs1852906 1 189883637 [T/C] rs11810898 1 189890002 [A/G] rs2699385 1 189916279 [T/C] rs815742 1 189918985 [A/C] rs860107 1 189922408 [T/C] exm2264935 1 189924896 [A/G] rs1341976 1 189931733 [T/C] rs16829304 1 189958783 [A/G] rs1730734 1 189958874 [T/C] rs1320748 1 189960204 [A/G] rs845629 1 189962502 [A/G] rs1529315 1 189973857 [A/G] rs10737578 1 189983720 [T/C] rs10800809 1 189984428 [A/C] rs1534745 1 190005340 [T/C] rs6427944 1 190010100 [T/C] rs17374565 1 190010245 [T/C] rs2037871 1 190020770 [T/C] rs10920424 1 190036140 [T/C] rs10920441 1 190042706 [T/C] rs4585977 1 190050376 [T/C] rs7536465 1 190056706 [A/G] rs1418811 1 190064165 [T/G] exm-rs1935881 1 190066386 [T/C] exm132653 1 190067458 [T/C] NM_001317188,NM_199051 BRINP3,BRINP3 EXON Missense_N562S,Missense_N664S rs6427982 1 190073382 [A/G] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs10920547 1 190080733 [A/G] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs2226167 1 190086179 [A/G] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent exm2265067 1 190088325 [A/G] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs2211430 1 190099810 [A/G] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs10753936 1 190102031 [T/C] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs1418808 1 190104227 [T/C] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs1557188 1 190117274 [T/C] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent exm132685 1 190129925 [A/G] NM_001317188,NM_199051 BRINP3,BRINP3 EXON Missense_R251C,Missense_R353C rs10920654 1 190131750 [T/C] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs12041138 1 190149198 [A/G] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs2253618 1 190150037 [T/C] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs815343 1 190155633 [T/C] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent exm132690 1 190195413 [A/G] NM_001317188,NM_199051 BRINP3,BRINP3 EXON Missense_R152C,Missense_R254C rs4399162 1 190201724 [A/G] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent exm132696 1 190234086 [A/G] NM_001317188,NM_199051 BRINP3,BRINP3 EXON Missense_T74M,Missense_T176M rs10920679 1 190239919 [A/G] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent variant.9005 1 190250685 [T/C] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent exm132702 1 190250788 [T/C] NM_001317188,NM_199051 BRINP3,BRINP3 EXON Silent,Missense_N110S rs1093040 1 190263214 [A/G] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs655598 1 190287713 [A/G] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs652953 1 190288297 [T/C] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs1148612 1 190337198 [T/C] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs1031076 1 190362935 [A/C] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs12065497 1 190385136 [A/G] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs17377527 1 190394746 [A/G] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs12091129 1 190406331 [T/C] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs12087474 1 190416298 [A/G] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs1171024 1 190418961 [T/C] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent exm132716 1 190424003 [T/G] NM_001317188,NM_199051 BRINP3,BRINP3 EXON Silent,Missense_R6S variant.9006 1 190424012 [T/C] NM_001317188,NM_199051 BRINP3,BRINP3 EXON Silent,Nonsense_W3X rs12058205 1 190424966 [A/G] NM_001317188,NM_199051 BRINP3,BRINP3 Silent,Silent rs12034237 1 190455544 [T/C] rs814941 1 190466822 [A/G] rs703931 1 190467826 [T/C] rs10920731 1 190472727 [A/G] rs12405769 1 190476831 [A/C] rs814923 1 190485500 [T/C] rs814914 1 190492280 [A/G] rs814913 1 190492543 [T/G] rs17378706 1 190494536 [A/C] rs6428021 1 190497340 [A/C] rs7541423 1 190501742 [T/C] rs814968 1 190506603 [A/C] rs814958 1 190514183 [T/C] rs12036325 1 190533202 [A/G] rs1327872 1 190533700 [A/G] rs11582878 1 190546931 [A/G] exm2264936 1 190551418 [A/G] rs49314 1 190558106 [T/C] rs749390 1 190560021 [T/C] rs694168 1 190566014 [A/G] rs2149028 1 190570848 [A/C] rs7531899 1 190581372 [A/G] rs694698 1 190583153 [T/C] rs604813 1 190596095 [T/C] NR_033922 LINC01720 Silent rs12079787 1 190604337 [A/G] NR_033922 LINC01720 Silent rs2149025 1 190608808 [A/G] NR_033922 LINC01720 Silent rs10800956 1 190632794 [T/C] NR_033922 LINC01720 Silent rs16832590 1 190634131 [T/C] NR_033922 LINC01720 Silent rs1325222 1 190645553 [A/C] NR_033922 LINC01720 Silent rs6678095 1 190647315 [T/C] NR_033922 LINC01720 Silent rs10753952 1 190651533 [T/C] NR_033922 LINC01720 Silent rs6675319 1 190671240 [T/C] NR_033922 LINC01720 Silent rs1325227 1 190673080 [T/C] NR_033922 LINC01720 Silent rs1537387 1 190677421 [A/G] NR_033922 LINC01720 Silent rs10800961 1 190687205 [T/C] NR_033922 LINC01720 Silent rs7547422 1 190687853 [T/C] NR_033922 LINC01720 Silent rs12024738 1 190694813 [A/G] NR_033922 LINC01720 Silent rs6703525 1 190695477 [T/C] NR_033922 LINC01720 Silent rs472345 1 190730591 [A/G] NR_033922 LINC01720 Silent rs16832764 1 190750491 [T/C] NR_033922 LINC01720 Silent rs16832771 1 190760788 [T/C] NR_033922 LINC01720 Silent exm2264937 1 190764733 [A/G] NR_033922 LINC01720 Silent rs7550667 1 190768945 [A/C] NR_033922 LINC01720 EXON Silent rs12029687 1 190785818 [A/G] rs12564225 1 190786827 [A/G] rs2489676 1 190804630 [T/G] rs10494649 1 190813289 [T/C] rs12143564 1 190818192 [T/G] rs1438532 1 190834267 [T/G] exm-rs2053302 1 190841673 [T/C] rs10800988 1 190849399 [T/C] exm2265068 1 190860691 [A/G] rs2419932 1 190872645 [T/G] rs12411096 1 190875644 [T/C] rs1936980 1 190876141 [T/C] rs1936988 1 190885399 [T/C] rs4372256 1 190894392 [A/G] rs11811680 1 190895591 [T/C] rs12071814 1 190896859 [A/C] rs12567544 1 190913478 [A/C] rs1431139 1 190923837 [T/C] rs1431142 1 190934383 [A/G] rs7546929 1 190940126 [A/G] rs2025509 1 190953471 [A/G] rs12145021 1 190965934 [T/C] rs6683411 1 190977609 [A/G] rs10801004 1 190990146 [T/C] rs1886414 1 191016101 [T/C] rs12047686 1 191025899 [A/G] rs6685319 1 191040861 [T/G] rs7521746 1 191062388 [A/G] rs1080901 1 191076486 [T/C] rs1454353 1 191093816 [T/C] rs6428044 1 191106183 [T/G] rs12067987 1 191109973 [T/C] rs1580087 1 191145367 [A/G] rs10920908 1 191150709 [T/C] rs11801275 1 191151059 [T/C] rs12143616 1 191154092 [T/C] rs16833288 1 191161284 [A/G] rs7554791 1 191167624 [A/G] rs7418163 1 191195800 [T/C] NR_146892 LINC01680 Silent rs7515438 1 191199033 [A/G] rs12120479 1 191223734 [A/G] rs1629378 1 191231120 [T/C] kgp3103389 1 191233878 [A/G] rs1246837 1 191238137 [A/G] rs1246726 1 191349614 [T/C] rs1923812 1 191358099 [T/G] rs10920932 1 191362050 [T/C] rs10920936 1 191377664 [T/G] exm2250411 1 191391663 [T/C] rs9651063 1 191391663 [T/C] rs2135943 1 191403411 [A/G] rs650957 1 191429227 [T/C] rs623950 1 191446589 [T/C] rs669885 1 191449983 [T/G] rs12071696 1 191453259 [T/C] rs10920959 1 191467283 [T/C] rs639721 1 191472500 [A/G] rs591536 1 191491491 [T/C] rs1892294 1 191502099 [T/C] rs661322 1 191511510 [T/G] exm-rs10801047 1 191559356 [T/A] rs10801047 1 191559356 [T/A] rs12403168 1 191571287 [A/G] rs2050664 1 191577392 [T/C] rs7547370 1 191590362 [T/C] exm2268802 1 191590362 [T/C] rs1856294 1 191599645 [T/G] rs1336855 1 191604694 [A/G] rs2814580 1 191610760 [T/C] rs945672 1 191615655 [A/G] rs12047092 1 191618129 [A/G] rs7551667 1 191619165 [A/G] rs10753990 1 191619550 [A/C] rs1338034 1 191627282 [A/G] rs12080045 1 191658150 [T/C] rs1509703 1 191673544 [T/C] rs4575057 1 191677851 [A/C] rs10494658 1 191689375 [T/G] rs833959 1 191693460 [T/C] rs833976 1 191703596 [T/G] rs2785761 1 191719427 [T/G] rs2814584 1 191729205 [T/C] rs833986 1 191755912 [T/C] rs10494663 1 191776078 [T/C] rs7528316 1 191792216 [T/C] rs12023209 1 191798964 [T/C] rs6696942 1 191804265 [T/C] rs9427541 1 191853988 [A/G] rs9427802 1 191855740 [T/C] rs9427545 1 191859736 [A/C] rs12081603 1 191865100 [T/G] rs1340202 1 191868116 [A/G] rs9427808 1 191868313 [A/G] rs2369527 1 191872334 [A/G] rs9427811 1 191875752 [A/G] rs10921043 1 191887735 [T/C] rs10801082 1 191913535 [T/C] rs7530235 1 191923076 [T/C] rs946962 1 191934144 [A/G] rs9427554 1 191941669 [A/G] rs12134799 1 191983048 [A/G] rs7553698 1 192011987 [T/C] rs10218711 1 192017221 [T/C] rs3012194 1 192047263 [T/G] rs17520994 1 192074894 [A/G] rs12569272 1 192085298 [T/G] exm2268961 1 192088044 [T/C] rs12119436 1 192088638 [T/G] rs17521643 1 192089215 [A/G] rs11581394 1 192108478 [T/C] rs4454527 1 192128183 [A/G] NM_130782 RGS18 Silent exm132733 1 192128363 [A/G] NM_130782 RGS18 EXON Missense_R45G exm132736 1 192128423 [A/G] NM_130782 RGS18 EXON Missense_R65G exm1743147 1 192128438 [A/G] NM_130782 RGS18 EXON Missense_A70T exm132737 1 192129537 [A/G] NM_130782 RGS18 EXON Missense_G84D rs1856492 1 192170402 [A/G] rs2801415 1 192182559 [T/G] rs946421 1 192211842 [T/C] rs7517414 1 192225979 [T/C] rs1175154 1 192230089 [A/G] rs1175119 1 192249116 [A/C] rs6704532 1 192253353 [T/G] rs6663865 1 192296038 [T/C] NM_001039152 RGS21 Silent rs7514892 1 192314681 [T/C] NM_001039152 RGS21 Silent exm132757 1 192316469 [T/C] NM_001039152 RGS21 EXON Missense_A13V exm132760 1 192316514 [A/G] NM_001039152 RGS21 EXON Missense_N28S exm132762 1 192321189 [T/C] NM_001039152 RGS21 EXON Missense_A34V exm132764 1 192321236 [T/C] NM_001039152 RGS21 EXON Missense_F50L exm132767 1 192321266 [A/G] NM_001039152 RGS21 EXON Missense_T60A rs1936671 1 192323753 [A/G] NM_001039152 RGS21 Silent rs10494671 1 192324175 [A/G] NM_001039152 RGS21 Silent indel.9011 1 192335111 [I/D] NM_001039152 RGS21 EXON variant.9012 1 192335171 [T/C] NM_001039152 RGS21 EXON Nonsense_R126X exm132774 1 192335180 [A/G] NM_001039152 RGS21 EXON Missense_K129E rs7528947 1 192335792 [A/G] NM_001039152 RGS21 EXON Silent rs1936712 1 192352776 [T/C] rs1936709 1 192356989 [A/G] rs7545533 1 192372674 [A/G] rs12079013 1 192387427 [A/G] rs10754006 1 192390633 [A/G] rs6676076 1 192405661 [T/C] rs2887558 1 192417416 [A/G] rs12568724 1 192417494 [A/G] rs16834300 1 192417680 [T/C] exm2250417 1 192430085 [A/C] rs12067906 1 192431998 [T/C] rs7552778 1 192443256 [A/G] rs7515864 1 192461456 [A/G] rs6681144 1 192469607 [T/G] rs2476312 1 192476716 [A/G] rs4657830 1 192481285 [T/C] rs10754013 1 192502783 [A/G] rs1323299 1 192510030 [T/G] rs10489868 1 192511183 [T/C] rs10921191 1 192514029 [A/C] rs1323298 1 192519865 [T/C] exm-rs2816316 1 192536813 [A/C] rs2760530 1 192538496 [T/G] exm132781 1 192544929 [A/G] NM_002922 RGS1 EXON Missense_A3T rs7535818 1 192545099 [A/G] NM_002922 RGS1 Silent exm1743215 1 192545450 [A/T] NM_002922 RGS1 EXON Missense_I58N exm132797 1 192547410 [G/C] NM_002922 RGS1 EXON Missense_E113D exm2259909 1 192547710 [A/G] NM_002922 RGS1 Silent exm132805 1 192548289 [A/G] NM_002922 RGS1 EXON Missense_R156Q exm132812 1 192548439 [A/G] NM_002922 RGS1 EXON Missense_N206S rs2760535 1 192549912 [A/G] rs6701700 1 192556309 [A/G] rs10489873 1 192559646 [A/G] rs2760511 1 192561472 [A/C] rs10921206 1 192567674 [T/C] rs10489877 1 192570150 [A/G] rs7553821 1 192598635 [T/C] rs6658382 1 192605325 [T/C] NM_144766,NM_002927 RGS13,RGS13 EXON Silent,Silent rs12044559 1 192609268 [T/C] NM_144766,NM_002927 RGS13,RGS13 Silent,Silent rs4658062 1 192616195 [A/G] NM_144766,NM_002927 RGS13,RGS13 Silent,Silent exm1743259 1 192617063 [T/C] NM_144766,NM_002927 RGS13,RGS13 EXON Synonymous_L25L,Synonymous_L25L rs9287126 1 192625530 [A/C] NM_144766,NM_002927 RGS13,RGS13 Silent,Silent exm132826 1 192627337 [T/C] NM_144766,NM_002927 RGS13,RGS13 EXON Missense_P45L,Missense_P45L exm2250419 1 192627431 [A/G] NM_144766,NM_002927 RGS13,RGS13 EXON Synonymous_R76R,Synonymous_R76R exm132839 1 192628623 [C/G] NM_144766,NM_002927 RGS13,RGS13 EXON Missense_L150F,Missense_L150F rs1933709 1 192638215 [T/C] rs1933705 1 192660401 [A/C] rs16834698 1 192696582 [T/G] rs10921257 1 192739041 [T/C] rs17646713 1 192755994 [T/C] rs6703040 1 192757432 [A/C] rs10801153 1 192763948 [A/G] rs7531013 1 192765943 [A/G] variant.9016 1 192778205 [T/C] NM_002923 RGS2 EXON Nonsense_Q2X exm132845 1 192778206 [A/G] NM_002923 RGS2 EXON Missense_Q2R exm132846 1 192778208 [A/G] NM_002923 RGS2 EXON Missense_S3G exm132849 1 192778214 [A/G] NM_002923 RGS2 EXON Missense_M5V exm132854 1 192778255 [C/G] NM_002923 RGS2 EXON Missense_K18N exm132855 1 192778269 [A/G] NM_002923 RGS2 EXON Missense_G23D exm132857 1 192779303 [T/G] NM_002923 RGS2 EXON Missense_D40Y exm132859 1 192779333 [A/C] NM_002923 RGS2 EXON Missense_Q50K exm132860 1 192779349 [T/C] NM_002923 RGS2 EXON Missense_P55L indel.9021 1 192779368 [I/D] NM_002923 RGS2 EXON exm132867 1 192780164 [A/G] NM_002923 RGS2 EXON Missense_I110V variant.9022 1 192780185 [T/G] NM_002923 RGS2 EXON Nonsense_E117X variant.9024 1 192780676 [T/C] NM_002923 RGS2 EXON Nonsense_Q196X rs2153084 1 192802381 [A/G] rs1231728 1 192818018 [A/C] rs4140450 1 192845807 [T/C] rs7527185 1 192883411 [T/C] rs10801161 1 192886814 [T/C] rs842796 1 192902415 [T/C] rs710140 1 192912108 [A/G] NR_126003 LINC01032 Silent rs7512241 1 192946832 [A/G] rs9427831 1 192958145 [A/C] exm132878 1 192985507 [T/C] NM_001350849,NM_001350850,NM_001350851,NM_001350843,NM_015984,NR_146930,NM_001350848,NM_001350847,NM_001350844,NM_001350846,NM_001350842,NM_001350841,NM_001350840,NM_001199261 UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5 EXON Missense_A198T,Missense_A197T,Missense_A197T,Silent,Missense_A322T,Silent,Missense_A198T,Missense_A312T,Missense_A341T,Missense_A313T,Missense_A348T,Missense_A349T,Missense_A368T,Missense_A321T exm-rs9427573 1 192995213 [T/C] NM_001350849,NM_001350850,NM_001350851,NM_001350843,NM_015984,NR_146930,NM_001350848,NM_001350847,NM_001350844,NM_001350846,NM_001350842,NM_001350841,NM_001350840,NM_001199261,NM_001199262,NM_001350845,NR_146931,NM_001199263,NM_001350852,NR_037607 UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm132886 1 192997237 [T/C] NM_001350849,NM_001350850,NM_001350851,NM_001350843,NM_015984,NR_146930,NM_001350848,NM_001350847,NM_001350844,NM_001350846,NM_001350842,NM_001350841,NM_001350840,NM_001199261,NM_001199262,NM_001350845,NR_146931,NM_001199263,NM_001350852,NR_037607 UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5 EXON Missense_V79I,Missense_V79I,Missense_V79I,Missense_V203I,Missense_V203I,Silent,Missense_V79I,Missense_V194I,Missense_V223I,Missense_V194I,Missense_V203I,Missense_V203I,Missense_V223I,Missense_V203I,Missense_V203I,Missense_V203I,Silent,Missense_V203I,Missense_V79I,Silent exm132892 1 192998369 [G/C] NM_001350849,NM_001350850,NM_001350851,NM_001350843,NM_015984,NR_146930,NM_001350848,NM_001350847,NM_001350844,NM_001350846,NM_001350842,NM_001350841,NM_001350840,NM_001199261,NM_001199262,NM_001350845,NR_146931,NM_001199263,NM_001350852,NR_037607 UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5 EXON Missense_V45L,Missense_V45L,Missense_V45L,Missense_V169L,Missense_V169L,Silent,Missense_V45L,Missense_V160L,Missense_V189L,Missense_V160L,Missense_V169L,Missense_V169L,Missense_V189L,Missense_V169L,Missense_V169L,Missense_V169L,Silent,Missense_V169L,Missense_V45L,Silent newrs192961842 1 192998513 [T/C] NM_001350849,NM_001350850,NM_001350851,NM_001350843,NM_015984,NR_146930,NM_001350848,NM_001350847,NM_001350844,NM_001350846,NM_001350842,NM_001350841,NM_001350840,NM_001199261,NM_001199262,NM_001350845,NR_146931,NM_001199263,NM_001350852,NR_037607 UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2887640 1 193027834 [A/C] NM_001350849,NM_001350850,NM_001350851,NM_001350843,NM_015984,NR_146930,NM_001350848,NM_001350847,NM_001350844,NM_001350846,NM_001350842,NM_001350841,NM_001350840,NM_001199261,NM_001199262,NM_001350845,NR_146931,NM_001199263,NM_001350852,NR_037607 UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5,UCHL5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm132932 1 193038254 [A/G] NM_001331020,NM_001173524,NM_004600,NM_001042369,NM_001173525,NM_001042370 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 EXON Silent,Missense_V24I,Missense_V24I,Missense_V24I,Missense_V24I,Missense_V24I exm132938 1 193038360 [A/G] NM_001331020,NM_001173524,NM_004600,NM_001042369,NM_001173525,NM_001042370 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 EXON Silent,Missense_E59G,Missense_E59G,Missense_E59G,Missense_E59G,Missense_E59G exm132942 1 193038494 [A/G] NM_001331020,NM_001173524,NM_004600,NM_001042369,NM_001173525,NM_001042370 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 EXON Silent,Missense_D104N,Missense_D104N,Missense_D104N,Missense_D104N,Missense_D104N exm132950 1 193044958 [A/G] NM_001331020,NM_001173524,NM_004600,NM_001042369,NM_001173525,NM_001042370 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 EXON Silent,Missense_I197V,Missense_I197V,Missense_I197V,Missense_I197V,Missense_I197V exm132959 1 193045734 [A/C] NM_001331020,NM_001173524,NM_004600,NM_001042369,NM_001173525,NM_001042370 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 EXON Missense_S27Y,Missense_S302Y,Missense_S302Y,Missense_S302Y,Missense_S302Y,Missense_S302Y exm132964 1 193046073 [A/G] NM_001331020,NM_001173524,NM_004600,NM_001042369,NM_001173525,NM_001042370 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 EXON Missense_A52T,Missense_A327T,Missense_A327T,Missense_A327T,Missense_A327T,Missense_A327T rs2275444 1 193051685 [A/G] NM_001331020,NM_001173524,NM_004600,NM_001042369,NM_001173525,NM_001042370 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 Silent,Silent,Silent,Silent,Silent,Silent rs10921308 1 193052205 [T/G] NM_001331020,NM_001173524,NM_004600,NM_001042369,NM_001173525,NM_001042370 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 Silent,Silent,Silent,Silent,Silent,Silent exm132980 1 193053716 [A/G] NM_001331020,NM_001173524,NM_004600,NM_001042369,NM_001173525,NM_001042370 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 EXON Missense_D216G,Missense_D491G,Missense_D491G,Missense_D491G,Missense_D491G,Missense_D491G rs10921309 1 193054154 [A/G] NM_001331020,NM_001173524,NM_004600,NM_001042369,NM_001173525,NM_001042370 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 EXON Silent,Silent,Silent,Silent,Silent,Silent exm132996 1 193065799 [A/G] NM_197962,NM_001243399,NM_016066,NM_001319291 GLRX2,GLRX2,GLRX2,GLRX2 EXON Missense_H151Y,Missense_H111Y,Missense_H152Y,Missense_H111Y variant.9032 1 193065856 [A/C] NM_197962,NM_001243399,NM_016066,NM_001319291 GLRX2,GLRX2,GLRX2,GLRX2 EXON Nonsense_G132X,Nonsense_G92X,Nonsense_G133X,Nonsense_G92X variant.9033 1 193070279 [A/G] NM_197962,NM_001243399,NM_016066,NM_001319291 GLRX2,GLRX2,GLRX2,GLRX2 EXON Nonsense_Q59X,Nonsense_Q19X,Nonsense_Q60X,Nonsense_Q19X exm1743381 1 193070320 [A/G] NM_197962,NM_001243399,NM_016066,NM_001319291 GLRX2,GLRX2,GLRX2,GLRX2 EXON Missense_T45I,Missense_T5I,Missense_T46I,Missense_T5I exm133014 1 193074511 [A/G] NM_197962,NM_001243399,NM_016066 GLRX2,GLRX2,GLRX2 EXON Missense_M1T,Silent,Silent exm133020 1 193074717 [A/G] NM_001243399,NM_016066 GLRX2,GLRX2 EXON Silent,Missense_Y18H exm133023 1 193074759 [G/C] NM_001243399,NM_016066 GLRX2,GLRX2 EXON Silent,Missense_R4G rs10921312 1 193077301 [T/C] rs10458401 1 193077970 [T/C] rs12123511 1 193083501 [T/G] exm2250421 1 193104827 [A/G] NM_024529 CDC73 Silent variant.9036 1 193121574 [A/G] NM_024529 CDC73 EXON Synonymous_T324T rs6689102 1 193135598 [A/G] NM_024529 CDC73 Silent exm133074 1 193149972 [A/G] NM_024529,NM_003783 CDC73,B3GALT2 EXON Silent,Missense_Y241H exm133083 1 193150326 [A/C] NM_024529,NM_003783 CDC73,B3GALT2 EXON Silent,Missense_Y123D exm2232104 1 193150535 [A/G] NM_024529,NM_003783 CDC73,B3GALT2 EXON Silent,Missense_A53V exm133093 1 193150646 [T/C] NM_024529,NM_003783 CDC73,B3GALT2 EXON Silent,Nonsense_W16X rs6676878 1 193161959 [A/G] NM_024529 CDC73 Silent rs12085373 1 193164147 [T/C] NM_024529 CDC73 Silent exm133103 1 193181196 [T/G] NM_024529 CDC73 EXON Synonymous_V344V rs10921327 1 193190460 [A/G] NM_024529 CDC73 Silent rs12410213 1 193193597 [T/G] NM_024529 CDC73 Silent rs1578242 1 193236656 [T/C] rs560900 1 193282883 [T/C] NR_125789 LINC01031 Silent rs1770000 1 193288856 [T/G] NR_125789 LINC01031 Silent rs1769999 1 193291213 [T/C] NR_125789 LINC01031 Silent rs16835319 1 193334309 [T/C] NR_125789 LINC01031 Silent rs6667545 1 193383564 [T/C] rs16829482 1 193391298 [T/G] rs7528241 1 193421360 [A/G] rs2038750 1 193424164 [T/C] rs7518647 1 193442375 [T/G] rs752276 1 193443157 [A/G] rs10494682 1 193450009 [A/G] rs10921353 1 193451373 [A/G] rs12406893 1 193457511 [T/C] rs12729450 1 193461282 [T/C] rs7538476 1 193469347 [T/G] rs6660273 1 193482494 [A/G] rs7517985 1 193488778 [A/G] rs10218732 1 193493591 [A/G] rs6692705 1 193502609 [A/G] rs16835504 1 193503684 [A/G] rs10921383 1 193506120 [A/G] exm2268803 1 193521335 [T/C] rs9660530 1 193521335 [T/C] rs4657871 1 193523636 [A/G] rs7544296 1 193536949 [T/G] rs16835564 1 193547909 [T/C] rs731361 1 193559230 [T/C] rs979497 1 193569748 [A/G] rs6428182 1 193592394 [A/G] rs10801214 1 193609764 [A/G] rs10921400 1 193625278 [T/C] rs6695669 1 193630577 [A/G] rs7550917 1 193634651 [A/G] rs10921412 1 193661626 [T/C] rs7551855 1 193667535 [T/C] rs10801229 1 193678599 [A/G] rs12075525 1 193684171 [A/G] rs2031832 1 193695077 [A/C] rs12139308 1 193709696 [A/G] rs10921423 1 193709733 [T/C] rs4344313 1 193711172 [A/C] rs1887628 1 193720321 [T/C] rs6697603 1 193722542 [A/G] rs2025934 1 193734900 [A/G] rs6661798 1 193740390 [T/C] rs1328177 1 193741207 [T/G] rs6687160 1 193756440 [A/G] rs1328180 1 193757853 [T/C] rs990812 1 193763292 [A/G] rs1410394 1 193772404 [T/C] rs10921443 1 193783317 [T/G] rs6693857 1 193788485 [A/G] exm2268962 1 193792484 [T/C] rs1575938 1 193792484 [T/C] rs10801260 1 193808170 [T/G] rs17692475 1 193808319 [T/C] rs10737633 1 193808664 [A/C] rs12036144 1 193824708 [T/C] rs600023 1 193836086 [A/G] rs517206 1 193849656 [T/C] rs643477 1 193850958 [A/G] rs670747 1 193859025 [T/G] rs12057376 1 193864579 [T/G] rs544511 1 193871478 [T/C] rs4326606 1 193878858 [A/G] rs7541852 1 193890360 [A/G] rs11805075 1 193890660 [A/G] rs4330903 1 193895333 [T/C] rs574986 1 193901506 [A/G] rs4657892 1 193901655 [A/G] rs6680840 1 193917413 [T/C] exm-rs606149 1 193921548 [T/C] rs1570442 1 193923694 [T/C] rs642668 1 193929977 [T/C] rs669015 1 193956727 [T/C] rs654447 1 193957678 [A/C] rs1590324 1 193960753 [A/G] rs16836062 1 193969210 [T/C] rs10737634 1 193994024 [T/C] rs12731751 1 194011835 [A/G] rs12073039 1 194013928 [A/G] rs2584257 1 194033705 [A/C] rs16836197 1 194051568 [A/G] rs685089 1 194064837 [A/C] rs520472 1 194065895 [T/C] exm2264939 1 194066989 [A/G] rs719813 1 194080827 [T/G] rs490363 1 194084026 [A/G] rs6428206 1 194089365 [T/C] rs693833 1 194089817 [A/C] rs2506068 1 194110960 [A/C] rs2485041 1 194118455 [A/C] rs1487528 1 194130204 [T/G] rs6670222 1 194147683 [A/G] rs6678341 1 194158003 [T/C] kgp7891592 1 194158025 [A/G] rs16836509 1 194166255 [T/C] rs12066981 1 194212515 [T/G] rs2031493 1 194253176 [T/C] rs2506048 1 194258816 [T/C] rs1972217 1 194263168 [T/G] rs1325426 1 194278945 [A/G] rs6700148 1 194309053 [A/C] rs4390154 1 194322167 [A/C] rs7515996 1 194324826 [A/G] rs7548680 1 194348173 [T/C] rs10801305 1 194374315 [T/C] rs4460614 1 194377156 [A/G] rs12401747 1 194403061 [A/G] rs6428233 1 194405611 [A/G] rs4291483 1 194407083 [T/G] rs4381164 1 194416810 [A/C] rs16836978 1 194423891 [T/C] rs16836992 1 194429176 [A/G] rs7514959 1 194448945 [A/C] rs2494316 1 194492493 [A/C] rs3001167 1 194530914 [A/G] rs3009382 1 194537085 [T/C] rs12406807 1 194558050 [A/C] rs6691362 1 194572285 [T/C] rs3009322 1 194580669 [T/G] rs10494709 1 194584977 [T/C] rs13376197 1 194591753 [T/C] rs3009358 1 194617533 [A/C] rs10801343 1 194639330 [T/G] rs10157433 1 194639414 [T/C] rs7555373 1 194660227 [A/G] rs10801344 1 194682062 [A/C] rs6428262 1 194683889 [T/C] rs12140285 1 194683991 [A/C] rs12138052 1 194702869 [A/G] rs10801345 1 194703530 [A/G] rs995805 1 194707591 [A/G] rs914273 1 194709891 [T/C] rs2131384 1 194736589 [T/G] exm2268804 1 194736589 [T/G] rs6669812 1 194749075 [T/C] rs6702232 1 194760481 [A/C] rs764552 1 194765326 [A/G] rs10754115 1 194772457 [A/G] rs6656153 1 194775338 [T/C] rs10494714 1 194802115 [T/C] rs6686114 1 194810589 [A/G] rs1410470 1 194811972 [A/G] rs339620 1 194839289 [A/G] rs339567 1 194842734 [T/C] rs1927707 1 194863270 [T/G] rs4657944 1 194868558 [T/C] rs339557 1 194869500 [T/C] rs339653 1 194888936 [T/C] rs7515328 1 194889402 [A/G] rs560517 1 194902278 [T/C] rs4292939 1 194909372 [A/C] rs6695766 1 194910364 [A/G] rs339591 1 194910383 [A/G] rs339597 1 194914012 [T/C] rs339601 1 194919249 [A/G] rs10921706 1 194929606 [A/G] rs9659629 1 194938031 [A/C] rs339571 1 194941213 [A/C] rs572607 1 194945275 [T/C] rs6693848 1 194955350 [T/G] rs2210331 1 194980508 [A/G] rs10754124 1 194993511 [T/C] rs1934206 1 195032861 [A/C] rs16837755 1 195044251 [T/C] rs4657796 1 195052937 [T/C] exm2264940 1 195053488 [A/G] rs6684597 1 195085692 [T/G] rs822456 1 195095179 [T/C] rs12067771 1 195113428 [T/C] rs10921803 1 195116480 [T/C] rs598224 1 195132593 [T/C] rs643532 1 195134340 [A/G] rs603495 1 195139365 [T/C] rs613938 1 195164476 [A/G] rs6688980 1 195191693 [T/C] rs2183227 1 195219984 [T/C] rs16838214 1 195241106 [T/C] rs17609129 1 195241681 [T/C] rs2026082 1 195247438 [T/G] rs6428282 1 195267072 [A/C] rs1324707 1 195277736 [A/G] exm2268964 1 195280424 [T/C] rs11587011 1 195288287 [T/C] rs12022395 1 195302846 [T/C] rs12731553 1 195316969 [T/G] rs12125032 1 195341727 [A/C] rs10754139 1 195346285 [A/G] rs1987929 1 195367222 [T/C] rs6702266 1 195376972 [T/C] rs6692973 1 195384254 [A/G] rs7538519 1 195386897 [T/C] rs16838352 1 195390646 [T/C] rs7515446 1 195393642 [T/C] rs12128390 1 195420070 [A/G] rs7515652 1 195424142 [A/G] rs10921854 1 195448403 [T/C] rs10754140 1 195448770 [A/G] rs11586254 1 195448951 [A/G] rs7541185 1 195467306 [A/C] rs10754143 1 195477551 [T/C] rs12038043 1 195506117 [A/C] rs2773454 1 195515431 [A/G] rs1890645 1 195531423 [T/C] exm-rs1890645 1 195531423 [T/C] rs2790075 1 195548638 [A/C] rs10494727 1 195569614 [T/C] rs10921881 1 195606741 [T/C] rs1556455 1 195629083 [A/G] rs2183858 1 195632577 [T/C] rs10921887 1 195646909 [T/C] rs7526474 1 195658978 [A/G] rs17672688 1 195686601 [A/G] rs12035852 1 195687201 [A/G] rs2895786 1 195702820 [T/C] rs12048401 1 195707490 [A/G] rs9943101 1 195724306 [A/C] rs10494730 1 195736070 [T/C] exm2268805 1 195738953 [T/G] rs16838884 1 195742263 [T/G] rs2400664 1 195745830 [A/G] rs2989965 1 195745968 [A/G] rs9803735 1 195760439 [A/G] rs3010167 1 195773441 [A/G] rs10218650 1 195791944 [T/G] rs4604678 1 195797849 [A/C] rs10754156 1 195804144 [T/C] rs16838961 1 195823994 [A/G] rs7530086 1 195825304 [A/G] rs6679891 1 195826738 [A/G] rs12064485 1 195831358 [T/C] rs7542834 1 195832997 [A/G] rs7546529 1 195849028 [A/G] rs2923889 1 195853219 [T/G] rs12121336 1 195859022 [A/G] rs10494737 1 195862859 [T/C] rs1869042 1 195864347 [A/G] rs1376803 1 195866450 [T/G] rs3008576 1 195869123 [T/C] rs3008552 1 195881459 [A/G] rs10921984 1 195891127 [T/C] rs2923875 1 195892617 [A/G] rs16839132 1 195909700 [T/C] exm-rs7517337 1 195914273 [A/G] rs7517337 1 195914273 [A/G] rs1376811 1 195915580 [T/G] exm2264941 1 195916112 [A/G] rs984557 1 195916500 [T/C] rs4295871 1 195916887 [A/G] rs2878283 1 195919285 [T/C] exm2263866 1 195923203 [A/C] rs10921993 1 195927611 [A/G] rs4658011 1 195932083 [A/G] rs10801499 1 195934150 [A/G] rs2923907 1 195938859 [T/G] rs4657818 1 195941818 [A/G] rs1597732 1 195954813 [T/C] rs10922008 1 195977640 [T/C] rs12029379 1 195985616 [A/C] rs3008588 1 195987908 [T/C] rs6428320 1 195989351 [T/C] rs12136731 1 196007974 [T/C] rs17688176 1 196014544 [T/C] NR_146895 LINC01724 EXON Silent rs10922013 1 196027872 [T/G] NR_146895 LINC01724 Silent rs12740444 1 196030268 [T/C] NR_146895 LINC01724 EXON Silent rs2923901 1 196030356 [T/C] NR_146895 LINC01724 Silent exm-rs7512769 1 196042662 [A/T] NR_146895 LINC01724 Silent rs12145838 1 196057313 [T/G] NR_146895 LINC01724 Silent rs7519081 1 196057888 [A/G] rs11579497 1 196061711 [A/G] rs6671997 1 196062126 [T/C] rs4453019 1 196070782 [T/C] rs12405380 1 196080988 [A/G] rs4498784 1 196081615 [A/C] rs12036795 1 196089818 [A/C] rs6676015 1 196099926 [A/G] rs7543048 1 196103959 [A/G] rs16839556 1 196120613 [A/G] rs12122832 1 196125008 [A/C] rs10801520 1 196144843 [T/C] rs10754182 1 196170439 [T/C] rs927724 1 196174790 [A/G] rs10801528 1 196186750 [A/G] rs1998712 1 196187665 [A/G] variant.9040 1 196197435 [T/G] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 EXON Silent,Nonsense_Y1109X,Silent,Nonsense_Y1042X,Nonsense_Y1085X newrs148932019 1 196227323 [T/C] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 Silent,Silent,Silent,Silent,Silent exm133238 1 196227521 [A/G] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 EXON Silent,Missense_S1005L,Silent,Missense_S938L,Missense_S981L rs12409953 1 196234932 [A/G] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 Silent,Silent,Silent,Silent,Silent rs2025599 1 196243012 [A/G] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 Silent,Silent,Silent,Silent,Silent rs2181948 1 196281802 [T/C] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 Silent,Silent,Silent,Silent,Silent indel.9043 1 196285151 [D/I] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 EXON variant.9044 1 196295846 [T/C] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 Silent,Silent,Silent,Silent,Silent exm133267 1 196295914 [G/C] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 EXON Silent,Missense_V737L,Silent,Missense_V687L,Missense_V737L exm133272 1 196303055 [A/G] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 EXON Silent,Missense_S640L,Silent,Missense_S590L,Missense_S640L exm133284 1 196309693 [T/C] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 EXON Silent,Missense_V521I,Silent,Missense_V471I,Missense_V521I exm133285 1 196309700 [T/C] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 EXON Silent,Synonymous_K518K,Silent,Synonymous_Q468Q,Synonymous_K518K exm133290 1 196311284 [A/G] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 EXON Silent,Missense_V493A,Silent,Silent,Missense_V493A rs946750 1 196359665 [T/C] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 Silent,Silent,Silent,Silent,Silent rs12729649 1 196387632 [A/G] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 Silent,Silent,Silent,Silent,Silent variant.9046 1 196395044 [T/C] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 EXON Silent,Nonsense_W353X,Silent,Nonsense_W353X,Nonsense_W353X rs1538686 1 196397819 [A/G] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 Silent,Silent,Silent,Silent,Silent rs6682225 1 196432158 [A/G] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 Silent,Silent,Silent,Silent,Silent rs10922071 1 196433870 [A/G] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 Silent,Silent,Silent,Silent,Silent exm133321 1 196448324 [A/G] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 EXON Silent,Synonymous_G123G,Silent,Synonymous_G123G,Synonymous_G123G exm2250445 1 196448324 [A/G] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 EXON Silent,Synonymous_G123G,Silent,Synonymous_G123G,Synonymous_G123G kgp11785730 1 196448636 [A/G] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 Silent,Silent,Silent,Silent,Silent rs10754192 1 196519023 [T/C] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 Silent,Silent,Silent,Silent,Silent rs10922084 1 196525314 [A/C] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 Silent,Silent,Silent,Silent,Silent exm2263867 1 196557329 [A/C] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 Silent,Silent,Silent,Silent,Silent rs12128544 1 196557329 [A/C] NR_146057,NM_198503,NR_146058,NM_001287820,NM_001287819 KCNT2,KCNT2,KCNT2,KCNT2,KCNT2 Silent,Silent,Silent,Silent,Silent rs542830 1 196594399 [A/G] rs10489457 1 196602514 [A/C] rs6695338 1 196603917 [A/G] rs34941217 1 196619336 [A/G] exm133337 1 196621252 [C/G] NM_000186,NM_001014975 CFH,CFH EXON Missense_R2T,Missense_R2T rs7524776 1 196623337 [T/C] NM_000186,NM_001014975 CFH,CFH Silent,Silent rs34388368 1 196635470 [T/G] NM_000186,NM_001014975 CFH,CFH Silent,Silent exm133341 1 196642221 [T/G] NM_000186,NM_001014975 CFH,CFH EXON Missense_S58A,Missense_S58A exm133342 1 196642233 [A/G] NM_000186,NM_001014975 CFH,CFH EXON Missense_V62I,Missense_V62I rs800292 1 196642233 [A/G] NM_000186,NM_001014975 CFH,CFH EXON Missense_V62I,Missense_V62I exm-rs1329424 1 196646176 [T/G] NM_000186,NM_001014975 CFH,CFH Silent,Silent rs572515 1 196646261 [A/G] NM_000186,NM_001014975 CFH,CFH Silent,Silent exm133360 1 196646650 [A/G] NM_000186,NM_001014975 CFH,CFH EXON Missense_V158I,Missense_V158I exm133371 1 196646779 [A/G] NM_000186,NM_001014975 CFH,CFH EXON Missense_E201K,Missense_E201K exm133377 1 196648903 [A/G] NM_000186,NM_001014975 CFH,CFH EXON Missense_R257H,Missense_R257H var_1_196648906 1 196648906 [T/C] NM_000186,NM_001014975 CFH,CFH EXON Missense_P258L,Missense_P258L variant.9049 1 196654311 [A/G] NM_000186,NM_001014975 CFH,CFH EXON Missense_R303Q,Missense_R303Q variant.9051 1 196658744 [A/G] NM_000186,NM_001014975 CFH,CFH EXON Missense_R387G,Missense_R387G exm133394 1 196659231 [A/C] NM_000186,NM_001014975 CFH,CFH EXON Missense_Q400K,Missense_Q400K rs10801555 1 196660261 [A/G] NM_000186,NM_001014975 CFH,CFH Silent,Silent exm133400 1 196670459 [T/C] NM_000186,NM_001014975 CFH,CFH EXON Silent,Missense_X450R rs10754199 1 196670839 [A/G] NM_000186 CFH Silent exm-rs10737680 1 196679455 [A/C] NM_000186 CFH Silent exm133411 1 196684751 [A/T] NM_000186 CFH EXON Missense_N516K exm133415 1 196684855 [T/C] NM_000186 CFH EXON Missense_I551T rs6677604 1 196686918 [A/G] NM_000186 CFH Silent exm-rs6677604 1 196686918 [A/G] NM_000186 CFH Silent exm1744750 1 196694290 [T/C] NM_000186 CFH EXON Missense_V579A exm133424 1 196694379 [A/G] NM_000186 CFH EXON Missense_V609I newrs148165372 1 196694379 [A/G] NM_000186 CFH EXON Missense_V609I exm133426 1 196694427 [T/G] NM_000186 CFH EXON Nonsense_E625X exm133428 1 196695675 [T/G] NM_000186 CFH EXON Missense_G650V newrs143237092 1 196695675 [T/G] NM_000186 CFH EXON Missense_G650V exm133432 1 196695911 [A/G] NM_000186 CFH EXON Missense_D693N exm133437 1 196696005 [A/C] NM_000186 CFH EXON Missense_T724K exm133438 1 196696029 [T/C] NM_000186 CFH EXON Missense_T732M exm-rs1410996 1 196696933 [A/G] NM_000186 CFH Silent rs1410996 1 196696933 [A/G] NM_000186 CFH Silent rs395544 1 196698272 [A/G] NM_000186 CFH Silent exm-rs380390 1 196701051 [C/G] NM_000186 CFH Silent rs7540032 1 196701284 [T/C] NM_000186 CFH Silent rs2284664 1 196702525 [T/C] NM_000186 CFH Silent exm-rs1329428 1 196702810 [T/C] NM_000186 CFH Silent exm133451 1 196706028 [T/C] NM_000186 CFH EXON Missense_R830W exm2232137 1 196706049 [A/G] NM_000186 CFH EXON Missense_V837I exm133458 1 196706659 [A/C] NM_000186 CFH EXON Missense_S884Y exm133460 1 196706677 [T/G] NM_000186 CFH EXON Missense_S890I rs515299 1 196706677 [T/G] NM_000186 CFH EXON Missense_S890I exm133461 1 196706683 [T/C] NM_000186 CFH EXON Missense_A892V rs1065489 1 196709774 [T/G] NM_000186 CFH EXON Missense_E936D exm133467 1 196709774 [T/G] NM_000186 CFH EXON Missense_E936D exm133469 1 196709816 [T/G] NM_000186 CFH EXON Missense_Q950H exm133470 1 196709833 [T/C] NM_000186 CFH EXON Missense_T956M exm133478 1 196711052 [C/G] NM_000186 CFH EXON Missense_G1002R rs534399 1 196711067 [T/G] NM_000186 CFH EXON Missense_V1007L exm133479 1 196711067 [T/G] NM_000186 CFH EXON Missense_V1007L exm133483 1 196711098 [T/C] NM_000186 CFH EXON Missense_T1017I exm2232140 1 196712594 [T/C] NM_000186 CFH EXON Missense_V1049A exm133490 1 196712596 [T/A] NM_000186 CFH EXON Missense_N1050Y exm133495 1 196712624 [T/C] NM_000186 CFH EXON Missense_I1059T exm2277016 1 196712659 [T/G] NM_000186 CFH EXON Nonsense_E1071X indel.9059 1 196748331 [I/D] NM_001166624,NM_021023 CFHR3,CFHR3 EXON indel.9061 1 196759317 [I/D] NM_001166624,NM_021023 CFHR3,CFHR3 EXON exm2232142 1 196762599 [T/G] NM_001166624,NM_021023 CFHR3,CFHR3 EXON Missense_A256S,Missense_A317S indel.9064 1 196788993 [D/I] NM_002113 CFHR1 EXON indel.9065 1 196794652 [I/D] NM_002113 CFHR1 EXON exm133619 1 196801025 [A/G] NM_002113 CFHR1 EXON Missense_E297K rs10922144 1 196823300 [T/C] rs16840639 1 196824773 [T/C] rs16840645 1 196825077 [A/G] rs7519501 1 196840173 [T/C] rs6428363 1 196843711 [A/G] exm-rs6428370 1 196844593 [A/G] rs12404243 1 196862569 [A/C] NM_001201551,NM_006684,NM_001201550 CFHR4,CFHR4,CFHR4 Silent,Silent,Silent exm133633 1 196871551 [T/C] NM_001201551,NM_006684,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Missense_V20A,Missense_V21A,Missense_V21A exm133636 1 196871592 [T/C] NM_001201551,NM_006684,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Missense_Y34H,Missense_Y35H,Missense_Y35H exm133637 1 196871607 [T/C] NM_001201551,NM_006684,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Missense_R39C,Missense_R40C,Missense_R40C exm133638 1 196871608 [A/G] NM_001201551,NM_006684,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Missense_R39H,Missense_R40H,Missense_R40H exm133639 1 196871610 [A/T] NM_001201551,NM_006684,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Nonsense_R40X,Nonsense_R41X,Nonsense_R41X exm133644 1 196871674 [T/C] NM_001201551,NM_006684,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Missense_T61I,Missense_T62I,Missense_T62I exm133646 1 196871693 [A/G] NM_001201551,NM_006684,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Nonsense_W67X,Nonsense_W68X,Nonsense_W68X variant.9069 1 196871745 [A/G] NM_001201551,NM_006684,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Missense_R85G,Missense_R86G,Missense_R86G exm133651 1 196876458 [A/G] NM_001201551,NM_006684,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Missense_N209S,Silent,Missense_N210S exm133666 1 196882038 [T/A] NM_001201551,NM_006684,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Missense_Q388L,Missense_Q142L,Missense_Q389L exm133690 1 196887411 [T/C] NM_001201551,NM_006684,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Missense_Y537H,Missense_Y291H,Missense_Y538H exm133697 1 196887480 [A/C] NM_001201551,NM_006684,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Missense_L560I,Missense_L314I,Missense_L561I variant.9073 1 196887530 [A/C] NM_001201551,NM_006684,NM_001201550 CFHR4,CFHR4,CFHR4 EXON Nonsense_C576X,Nonsense_C330X,Nonsense_C577X exm133701 1 196918605 [A/G] NM_005666,NM_001312672 CFHR2,CFHR2 EXON Missense_K27E,Silent exm133702 1 196918615 [A/G] NM_005666,NM_001312672 CFHR2,CFHR2 EXON Missense_H30R,Silent exm133713 1 196919982 [T/G] NM_005666,NM_001312672 CFHR2,CFHR2 EXON Missense_R85I,Silent exm1744848 1 196919987 [T/G] NM_005666,NM_001312672 CFHR2,CFHR2 EXON Missense_C87G,Silent exm133715 1 196920123 [A/G] NM_005666,NM_001312672 CFHR2,CFHR2 EXON Missense_R132Q,Silent rs9427934 1 196922860 [A/G] NM_005666,NM_001312672 CFHR2,CFHR2 Silent,Silent indel.9074 1 196927041 [D/I] NM_005666,NM_001312672 CFHR2,CFHR2 EXON newrs41257904 1 196927185 [T/G] NM_005666,NM_001312672 CFHR2,CFHR2 EXON Nonsense_E199X,Nonsense_E75X exm133727 1 196927185 [T/G] NM_005666,NM_001312672 CFHR2,CFHR2 EXON Nonsense_E199X,Nonsense_E75X exm133734 1 196928188 [A/G] NM_005666,NM_001312672 CFHR2,CFHR2 EXON Missense_Y264C,Missense_Y140C rs7531555 1 196929310 [T/C] rs9427938 1 196933245 [T/C] rs6428379 1 196937536 [T/C] rs9427661 1 196946546 [T/C] variant.9079 1 196946849 [T/G] NM_030787 CFHR5 EXON Nonsense_E19X exm133745 1 196952046 [A/T] NM_030787 CFHR5 EXON Missense_H30Q exm133766 1 196953264 [A/C] NM_030787 CFHR5 EXON Missense_T143P rs1750311 1 196954225 [A/C] NM_030787 CFHR5 Silent variant.9081 1 196963209 [A/G] NM_030787 CFHR5 Silent exm133768 1 196963210 [A/G] NM_030787 CFHR5 EXON Missense_K144R exm133769 1 196963211 [A/T] NM_030787 CFHR5 EXON Missense_K144N exm133770 1 196963213 [A/G] NM_030787 CFHR5 EXON Missense_G145E exm2232149 1 196963254 [C/G] NM_030787 CFHR5 EXON Missense_Q159E exm1744861 1 196963287 [A/G] NM_030787 CFHR5 EXON Missense_V170M exm1744862 1 196963312 [A/G] NM_030787 CFHR5 EXON Missense_N178S exm133777 1 196963355 [T/G] NM_030787 CFHR5 EXON Missense_F192L variant.9083 1 196963361 [A/G] NM_030787 CFHR5 EXON Nonsense_W194X variant.9084 1 196964855 [T/C] NM_030787 CFHR5 EXON Nonsense_R206X exm133780 1 196964861 [T/C] NM_030787 CFHR5 EXON Missense_C208R exm133790 1 196965193 [A/G] NM_030787 CFHR5 EXON Missense_G278S exm133791 1 196965196 [T/A] NM_030787 CFHR5 EXON Missense_Y279N variant.9086 1 196965333 [T/G] NM_030787 CFHR5 Silent exm133798 1 196967318 [T/G] NM_030787 CFHR5 EXON Missense_L344R exm133801 1 196967354 [A/G] NM_030787 CFHR5 EXON Missense_R356H variant.9089 1 196971659 [T/C] NM_030787 CFHR5 EXON Nonsense_Q399X variant.9092 1 196971794 [T/G] NM_030787 CFHR5 EXON Nonsense_E444X exm133814 1 196973789 [A/G] NM_030787 CFHR5 Silent exm1744874 1 196973817 [T/C] NM_030787 CFHR5 EXON Missense_P453S indel.9094 1 196973859 [I/D] NM_030787 CFHR5 EXON exm133821 1 196973872 [A/G] NM_030787 CFHR5 EXON Missense_G471E exm133827 1 196977644 [T/G] NM_030787 CFHR5 EXON Missense_M514R exm133828 1 196977664 [T/A] NM_030787 CFHR5 EXON Missense_L521I exm133830 1 196977689 [T/G] NM_030787 CFHR5 EXON Missense_L529R exm133833 1 196977748 [T/A] NM_030787 CFHR5 EXON Missense_I549L exm133835 1 196977767 [G/C] NM_030787 CFHR5 EXON Missense_R555P rs10922153 1 196978615 [T/G] NM_030787 CFHR5 EXON Silent rs1360558 1 196993973 [A/G] rs1332667 1 196995848 [T/G] rs13375369 1 197007229 [A/G] exm133842 1 197009688 [T/C] NM_001994 F13B EXON Missense_G639E exm133843 1 197009702 [T/C] NM_001994 F13B EXON Missense_M634I rs5998 1 197009798 [A/G] NM_001994 F13B EXON Synonymous_N602N rs10754210 1 197012111 [A/G] NM_001994 F13B Silent exm133850 1 197019858 [A/C] NM_001994 F13B EXON Missense_D569E rs2990510 1 197020658 [T/G] NM_001994 F13B Silent exm133860 1 197021940 [T/C] NM_001994 F13B EXON Missense_Y460C indel.9096 1 197024876 [I/D] NM_001994 F13B EXON exm133865 1 197024914 [A/G] NM_001994 F13B EXON Missense_Y429H exm133867 1 197024971 [T/C] NM_001994 F13B EXON Missense_G410R exm133871 1 197026151 [A/T] NM_001994 F13B EXON Missense_E388V indel.9097 1 197026158 [I/D] NM_001994 F13B EXON exm133876 1 197026265 [T/C] NM_001994 F13B EXON Missense_H350R exm133877 1 197026289 [A/G] NM_001994 F13B EXON Missense_I342T var_1_197026307 1 197026307 [A/C] NM_001994 F13B EXON Missense_C336F rs1759007 1 197027606 [A/G] NM_001994 F13B Silent exm133895 1 197029592 [T/C] NM_001994 F13B EXON Missense_V237I exm133911 1 197031021 [T/C] NM_001994 F13B EXON Missense_R115H rs6003 1 197031021 [T/C] NM_001994 F13B EXON Missense_R115H variant.9102 1 197036288 [A/G] NM_001994 F13B Silent rs10754213 1 197055925 [T/C] NM_001206846,NM_018136 ASPM,ASPM Silent,Silent variant.9103 1 197055928 [T/C] NM_001206846,NM_018136 ASPM,ASPM Silent,Silent exm2273731 1 197056003 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_Q1836K,Missense_Q3421K exm1744917 1 197057451 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_G1781R,Missense_G3366R indel.9105 1 197057491 [D/I] NM_001206846,NM_018136 ASPM,ASPM EXON indel.9106 1 197059097 [I/D] NM_001206846,NM_018136 ASPM,ASPM EXON exm133938 1 197059133 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_R1719Q,Missense_R3304Q exm133940 1 197059154 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_S1712Y,Missense_S3297Y exm1744920 1 197059211 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_V1693A,Missense_V3278A exm133945 1 197059382 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_H1673R,Missense_H3258R exm133947 1 197059479 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_C1641G,Missense_C3226G newrs193251130 1 197060077 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_Q1595P,Missense_Q3180P exm133966 1 197061042 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_I1562V,Missense_I3147V exm133968 1 197061086 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_L1547R,Missense_L3132R exm133978 1 197062222 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_I1500T,Missense_I3085T exm133982 1 197062298 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Nonsense_Q1475X,Nonsense_Q3060X exm133989 1 197063292 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Synonymous_A1417A,Synonymous_A3002A exm2250451 1 197063292 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Synonymous_A1417A,Synonymous_A3002A exm133995 1 197065186 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_I1392V,Missense_I2977V exm134003 1 197069640 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_I2914T exm134006 1 197069766 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_T2872M exm134011 1 197069857 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R2842W indel.9111 1 197069874 [D/I] NM_001206846,NM_018136 ASPM,ASPM EXON exm1744949 1 197069929 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_A2818S indel.9112 1 197069968 [I/D] NM_001206846,NM_018136 ASPM,ASPM EXON exm134018 1 197070126 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_M2752R exm1744951 1 197070153 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R2743Q indel.9114 1 197070249 [I/D] NM_001206846,NM_018136 ASPM,ASPM EXON var_1_197070283 1 197070283 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Nonsense_R2700X exm134024 1 197070313 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R2690W exm134028 1 197070372 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_I2670T exm134032 1 197070442 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_L2647I exm134043 1 197070697 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_S2562G rs10922162 1 197070776 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Synonymous_V2535V rs1412640 1 197070815 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Synonymous_L2522L exm134052 1 197070816 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Nonsense_L2522X exm134056 1 197070901 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_Y2494H exm1744961 1 197070906 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R2492K exm134058 1 197070953 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_K2476N exm134067 1 197071224 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_H2386R exm1744965 1 197071267 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R2372G exm134074 1 197071585 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_A2266T exm134077 1 197071654 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_V2243L variant.9118 1 197071813 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Nonsense_Q2190X exm134085 1 197071813 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Nonsense_Q2190X exm134086 1 197071830 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R2184Q indel.9119 1 197071833 [I/D] NM_001206846,NM_018136 ASPM,ASPM EXON exm134094 1 197072106 [T/A] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_N2092I exm134097 1 197072250 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_N2044S exm134098 1 197072256 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_D2042G exm134107 1 197072434 [T/A] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_M1983L exm2250452 1 197072441 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Synonymous_Y1980Y exm1744976 1 197072484 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_Q1966R exm134112 1 197072560 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_C1941R exm134113 1 197072563 [C/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_Q1940E exm134115 1 197072640 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_Q1914R exm134123 1 197072776 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_T1869A exm134126 1 197072802 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_A1860V exm134129 1 197072830 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_I1851V exm1744979 1 197072871 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_G1837D exm134136 1 197072929 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R1818C exm134141 1 197073154 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_L1743F exm1744982 1 197073157 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_Y1742H exm134143 1 197073196 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R1729W 1KG_1_197073231 1 197073231 [I/D] NM_001206846,NM_018136 ASPM,ASPM EXON newrs148294838 1 197073245 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Nonsense_Y1712X exm134151 1 197073298 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R1695C exm134152 1 197073318 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_T1688I exm134156 1 197073396 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_I1662S exm134161 1 197073484 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R1633C variant.9124 1 197073532 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Nonsense_R1617X exm134170 1 197073648 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R1578Q indel.9126 1 197073654 [D/I] NM_001206846,NM_018136 ASPM,ASPM EXON exm134174 1 197073885 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R1499L exm134180 1 197073945 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_K1479R exm134183 1 197073979 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_A1468T exm134189 1 197074168 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Silent,Missense_R1405C newrs140602858 1 197091104 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Nonsense_R1271X,Nonsense_R1271X exm134209 1 197091124 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_R1264H,Missense_R1264H exm134229 1 197093319 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_G1104D,Missense_G1104D exm134231 1 197093361 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_S1090F,Missense_S1090F exm134233 1 197093401 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_K1077Q,Missense_K1077Q indel.9132 1 197094290 [D/I] NM_001206846,NM_018136 ASPM,ASPM EXON exm134245 1 197094290 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_D990N,Missense_D990N exm2232154 1 197097642 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_L972V,Missense_L972V indel.9133 1 197097685 [D/I] NM_001206846,NM_018136 ASPM,ASPM EXON var_1_197097693 1 197097693 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Nonsense_Q955X,Nonsense_Q955X variant.9135 1 197099045 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_G877S,Missense_G877S variant.9136 1 197101429 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Nonsense_R825X,Nonsense_R825X exm1745027 1 197102571 [A/T] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_E776D,Missense_E776D exm134274 1 197102632 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_Y756C,Missense_Y756C exm134275 1 197102636 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_A755T,Missense_A755T indel.9137 1 197102659 [D/I] NM_001206846,NM_018136 ASPM,ASPM EXON exm134277 1 197102681 [T/A] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_I740L,Missense_I740L exm134287 1 197108936 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_A663S,Missense_A663S exm134295 1 197111515 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_P623T,Missense_P623T exm134299 1 197111642 [C/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_S580R,Missense_S580R exm134300 1 197111650 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_D578N,Missense_D578N exm134302 1 197111665 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_R573W,Missense_R573W indel.9138 1 197111710 [I/D] NM_001206846,NM_018136 ASPM,ASPM EXON exm134308 1 197111877 [C/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_A502G,Missense_A502G exm134312 1 197111931 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_N484S,Missense_N484S exm134314 1 197111997 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_Y462C,Missense_Y462C exm134316 1 197112078 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_S435L,Missense_S435L exm134322 1 197112198 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_Q395R,Missense_Q395R exm134324 1 197112241 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_D381Y,Missense_D381Y exm134326 1 197112375 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_T336K,Missense_T336K exm2232157 1 197112445 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_I313V,Missense_I313V exm134329 1 197112477 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_C302Y,Missense_C302Y exm134334 1 197112538 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_N282H,Missense_N282H exm134339 1 197112706 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_P226S,Missense_P226S exm134341 1 197112736 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_E216K,Missense_E216K exm134342 1 197112738 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_E215A,Missense_E215A exm134345 1 197112756 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_N209S,Missense_N209S exm1745046 1 197112801 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_A194D,Missense_A194D exm134347 1 197112805 [T/G] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_Q193K,Missense_Q193K exm134349 1 197112807 [A/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_L192R,Missense_L192R exm134350 1 197112823 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_R187G,Missense_R187G exm134351 1 197112859 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_V175I,Missense_V175I newrs137852996 1 197113179 [A/G] NM_001206846,NM_018136 ASPM,ASPM EXON Nonsense_R117X,Nonsense_R117X exm134358 1 197115345 [T/C] NM_001206846,NM_018136 ASPM,ASPM EXON Missense_A75T,Missense_A75T exm-rs4639796 1 197126649 [A/G] NR_135153,NM_194314 ZBTB41,ZBTB41 EXON Silent,Silent exm2273344 1 197128470 [A/G] NR_135153,NM_194314 ZBTB41,ZBTB41 EXON Silent,Silent exm134377 1 197128592 [A/T] NR_135153,NM_194314 ZBTB41,ZBTB41 EXON Silent,Missense_E876V variant.9145 1 197128671 [A/G] NR_135153,NM_194314 ZBTB41,ZBTB41 EXON Silent,Nonsense_R850X exm134382 1 197128680 [T/C] NR_135153,NM_194314 ZBTB41,ZBTB41 EXON Silent,Missense_D847N rs10429911 1 197146144 [A/C] NR_135153,NM_194314 ZBTB41,ZBTB41 Silent,Silent variant.9147 1 197147542 [T/C] NR_135153,NM_194314 ZBTB41,ZBTB41 Silent,Silent exm134425 1 197168579 [T/C] NR_135153,NM_194314 ZBTB41,ZBTB41 EXON Silent,Missense_G342E exm134426 1 197168625 [A/C] NR_135153,NM_194314 ZBTB41,ZBTB41 EXON Silent,Missense_D327Y rs10494751 1 197168625 [A/C] NR_135153,NM_194314 ZBTB41,ZBTB41 EXON Silent,Missense_D327Y exm134429 1 197168747 [T/C] NR_135153,NM_194314 ZBTB41,ZBTB41 EXON Silent,Missense_D286G exm134438 1 197168987 [T/C] NR_135153,NM_194314 ZBTB41,ZBTB41 EXON Silent,Missense_N206S exm134440 1 197169011 [T/C] NR_135153,NM_194314 ZBTB41,ZBTB41 EXON Silent,Missense_E198G exm134447 1 197169445 [T/A] NR_135153,NM_194314 ZBTB41,ZBTB41 EXON Silent,Missense_E53D exm2275528 1 197169576 [T/C] NR_135153,NM_194314 ZBTB41,ZBTB41 EXON Silent,Missense_N10D rs10922187 1 197187605 [T/C] NM_001257965 CRB1 Silent rs517222 1 197227033 [A/G] NM_001257965 CRB1 Silent exm134457 1 197237571 [T/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Silent,Silent,Missense_L10P,Silent,Missense_L10P,Missense_L10P rs1009188 1 197257090 [T/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent rs10801601 1 197266535 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent rs11809356 1 197293463 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent exm134459 1 197297580 [T/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Silent,Silent,Missense_R33S,Silent,Missense_R33S,Missense_R33S exm134460 1 197297616 [G/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Silent,Silent,Missense_C45W,Silent,Missense_C45W,Missense_C45W exm2250453 1 197297637 [T/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Silent,Silent,Synonymous_N52N,Silent,Synonymous_N52N,Synonymous_N52N exm134462 1 197297642 [T/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Silent,Silent,Missense_C54F,Silent,Missense_C54F,Missense_C54F exm134469 1 197297965 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_V93M,Silent,Missense_V162M,Silent,Missense_V162M,Missense_V162M 1KG_1_197297973 1 197297973 [I/D] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON exm134474 1 197298095 [T/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_I136T,Silent,Missense_I205T,Silent,Missense_I205T,Missense_I205T rs2786111 1 197306099 [T/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent rs949571 1 197313189 [T/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent exm134476 1 197313422 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_E153K,Silent,Missense_E222K,Silent,Missense_E222K,Silent exm134477 1 197313437 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_E158K,Silent,Missense_E227K,Silent,Missense_E227K,Silent exm-rs2786098 1 197325908 [T/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent rs2786119 1 197329535 [A/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent exm2265070 1 197359999 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent rs2476020 1 197368281 [T/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent rs11802794 1 197372250 [A/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent 1KG_1_197383063 1 197383063 [I/D] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 newrs114342808 1 197390534 [T/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Nonsense_R457X,Silent,Nonsense_R526X,Silent,Nonsense_R526X,Nonsense_R414X newrs62636266 1 197391000 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_C612Y,Silent,Missense_C681Y,Silent,Missense_C681Y,Missense_C569Y variant.9157 1 197391009 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R615K,Silent,Missense_R684K,Silent,Missense_R684K,Missense_R572K exm134548 1 197396584 [T/A] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_E641V,Silent,Missense_E710V,Silent,Silent,Missense_E598V exm134551 1 197396680 [T/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_F673S,Silent,Missense_F742S,Silent,Silent,Missense_F630S exm134552 1 197396685 [A/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Synonymous_R675R,Silent,Synonymous_R744R,Silent,Silent,Synonymous_R632R newrs28939720 1 197396689 [T/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_T676M,Silent,Missense_T745M,Silent,Silent,Missense_T633M exm134554 1 197396745 [T/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R695C,Silent,Missense_R764C,Silent,Silent,Missense_R652C exm134557 1 197396761 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R700H,Silent,Missense_R769H,Silent,Silent,Missense_R657H exm134563 1 197396853 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_I731V,Silent,Missense_I800V,Silent,Silent,Missense_I688V exm134567 1 197396917 [T/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_T752M,Silent,Missense_T821M,Silent,Silent,Missense_T709M newrs116471343 1 197396961 [A/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_P767T,Silent,Missense_P836T,Silent,Silent,Missense_P724T exm134571 1 197396961 [A/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_P767T,Silent,Missense_P836T,Silent,Silent,Missense_P724T newrs62636290 1 197398583 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_N870S,Silent,Missense_N894S,Silent,Silent,Missense_N782S exm134580 1 197398616 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R881Q,Silent,Missense_R905Q,Silent,Silent,Missense_R793Q exm134581 1 197398648 [T/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_L892F,Silent,Missense_L916F,Silent,Silent,Missense_L804F exm134587 1 197403836 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_C924Y,Silent,Missense_C948Y,Silent,Silent,Missense_C836Y newrs143511261 1 197404030 [T/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Nonsense_Q989X,Silent,Nonsense_Q1013X,Silent,Silent,Nonsense_Q901X exm134608 1 197404390 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_V1109M,Silent,Missense_V1133M,Silent,Silent,Missense_V1021M exm134616 1 197404618 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_V1185M,Silent,Missense_V1209M,Silent,Silent,Missense_V1097M variant.9167 1 197404669 [T/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Nonsense_G1202X,Silent,Nonsense_G1226X,Silent,Silent,Nonsense_G1114X exm134618 1 197404688 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_H1208R,Silent,Missense_H1232R,Silent,Silent,Missense_H1120R exm134620 1 197407736 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_N1246S,Silent,Missense_N1270S,Silent,Missense_N734S,Missense_N1158S exm2273732 1 197407751 [G/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_T1251R,Silent,Missense_T1275R,Silent,Missense_T739R,Missense_T1163R indel.9168 1 197411301 [I/D] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON exm134631 1 197411409 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R1307H,Silent,Missense_R1331H,Silent,Missense_R795H,Missense_R1219H newrs62636285 1 197411409 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R1307H,Silent,Missense_R1331H,Silent,Missense_R795H,Missense_R1219H variant.9170 1 197411412 [T/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_C1308F,Silent,Missense_C1332F,Silent,Missense_C796F,Missense_C1220F rs7514167 1 197425806 [T/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent variant.9171 1 197446848 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_A1330T,Silent,Missense_A1354T,Silent,Missense_A818T,Missense_A1242T exm134636 1 197446848 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_A1330T,Silent,Missense_A1354T,Silent,Missense_A818T,Missense_A1242T exm134641 1 197446936 [A/G] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R1359H,Silent,Missense_R1383H,Silent,Missense_R847H,Missense_R1271H variant.9172 1 197446956 [T/C] NM_001257965,NR_047563,NM_201253,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Nonsense_R1366X,Silent,Nonsense_R1390X,Silent,Nonsense_R854X,Nonsense_R1278X rs2160967 1 197456295 [T/C] rs10494754 1 197463936 [T/C] exm2273733 1 197479654 [T/A] NM_001195215,NR_125340 DENND1B,DENND1B EXON Missense_M755K,Silent exm134647 1 197479723 [T/G] NM_001195215,NR_125340 DENND1B,DENND1B EXON Missense_E732A,Silent exm134648 1 197479756 [T/C] NM_001195215,NR_125340 DENND1B,DENND1B EXON Missense_R721Q,Silent exm1745153 1 197480884 [T/C] NM_001195215,NR_125340 DENND1B,DENND1B EXON Missense_M597V,Silent exm134663 1 197480986 [T/C] NM_001195215,NR_125340 DENND1B,DENND1B EXON Missense_G563S,Silent exm134664 1 197480994 [A/G] NM_001195215,NR_125340 DENND1B,DENND1B EXON Missense_P560L,Silent exm134671 1 197482080 [A/G] NM_001195215,NR_125340 DENND1B,DENND1B EXON Missense_R507C,Silent exm2264942 1 197482265 [A/G] NM_001195215,NR_125340 DENND1B,DENND1B Silent,Silent rs2287537 1 197482265 [A/G] NM_001195215,NR_125340 DENND1B,DENND1B Silent,Silent exm134673 1 197509107 [T/C] NM_001195215,NR_125340 DENND1B,DENND1B EXON Missense_R501H,Silent variant.9173 1 197509203 [T/C] NM_001195215,NR_125340 DENND1B,DENND1B Silent,Silent rs10801614 1 197520273 [T/C] NM_001195215,NR_125340 DENND1B,DENND1B Silent,Silent rs6677361 1 197521877 [T/C] NM_001195215,NR_125340,NM_144977,NM_001300858 DENND1B,DENND1B,DENND1B,DENND1B EXON Silent,Silent,Silent,Silent rs6428410 1 197546891 [A/G] NM_001195215,NR_125340,NM_144977,NM_001300858 DENND1B,DENND1B,DENND1B,DENND1B Silent,Silent,Silent,Silent exm134691 1 197552310 [A/G] NM_001195215,NR_125340,NM_144977,NM_001300858 DENND1B,DENND1B,DENND1B,DENND1B EXON Missense_T374I,Silent,Missense_T374I,Missense_T344I rs6702421 1 197559324 [T/C] NM_001195215,NR_125340,NM_144977,NM_001300858 DENND1B,DENND1B,DENND1B,DENND1B Silent,Silent,Silent,Silent exm134700 1 197564423 [A/G] NM_001195215,NR_125340,NM_144977,NM_001300858 DENND1B,DENND1B,DENND1B,DENND1B EXON Missense_A321V,Silent,Missense_A321V,Missense_A291V rs11799915 1 197582780 [A/G] NM_001195215,NR_125340,NM_144977,NM_001300858 DENND1B,DENND1B,DENND1B,DENND1B Silent,Silent,Silent,Silent rs2111930 1 197586232 [T/C] NM_001195215,NR_125340,NM_144977,NM_001300858 DENND1B,DENND1B,DENND1B,DENND1B Silent,Silent,Silent,Silent rs4282851 1 197590190 [A/G] NM_001195215,NR_125340,NM_144977,NM_001300858 DENND1B,DENND1B,DENND1B,DENND1B Silent,Silent,Silent,Silent rs10442656 1 197606708 [T/C] NM_001195215,NR_125340,NM_144977,NM_001300858 DENND1B,DENND1B,DENND1B,DENND1B Silent,Silent,Silent,Silent variant.9174 1 197616185 [T/C] NM_001195215,NR_125340,NM_144977,NM_001300858 DENND1B,DENND1B,DENND1B,DENND1B EXON Synonymous_P169P,Silent,Synonymous_P169P,Silent exm134721 1 197621365 [T/C] NM_001195215,NR_125340,NM_144977,NM_001300858 DENND1B,DENND1B,DENND1B,DENND1B EXON Synonymous_V149V,Silent,Synonymous_V149V,Synonymous_V139V exm1745193 1 197643277 [T/A] NM_001195215,NR_125340,NM_144977,NM_001300858 DENND1B,DENND1B,DENND1B,DENND1B EXON Missense_K50M,Silent,Missense_K50M,Missense_K40M rs10801621 1 197649941 [A/G] NM_001195215,NR_125340,NM_144977,NM_001300858 DENND1B,DENND1B,DENND1B,DENND1B Silent,Silent,Silent,Silent exm134732 1 197684161 [T/C] NM_001195215,NR_125340,NM_144977,NM_001300858 DENND1B,DENND1B,DENND1B,DENND1B EXON Synonymous_Q42Q,Silent,Synonymous_Q42Q,Synonymous_Q32Q rs2488401 1 197702401 [T/C] NM_001195215,NR_125340,NM_144977,NM_001300858 DENND1B,DENND1B,DENND1B,DENND1B Silent,Silent,Silent,Silent exm-rs1998598 1 197727642 [A/G] NM_001195215,NR_125340,NM_144977,NM_001300858,NM_001195216 DENND1B,DENND1B,DENND1B,DENND1B,DENND1B Silent,Silent,Silent,Silent,Silent rs2488394 1 197735497 [A/C] NM_001195215,NR_125340,NM_144977,NM_001300858,NM_001195216 DENND1B,DENND1B,DENND1B,DENND1B,DENND1B Silent,Silent,Silent,Silent,Silent exm-rs12134279 1 197781198 [T/C] rs11803984 1 197784572 [T/C] rs6667560 1 197794699 [A/G] rs6678151 1 197811282 [A/C] rs10922298 1 197811566 [T/C] rs12026183 1 197813032 [T/C] rs10922306 1 197823360 [A/G] rs10922313 1 197836347 [T/C] rs10801629 1 197844367 [T/C] rs12138550 1 197866357 [T/C] rs10922325 1 197867588 [T/C] exm134750 1 197871863 [A/G] NM_001024594 C1orf53 EXON Nonsense_W28X indel.9180 1 197874941 [I/D] NM_001024594 C1orf53 EXON exm134764 1 197876319 [A/G] NM_001024594 C1orf53 EXON Missense_K136R exm134769 1 197881691 [T/G] NM_001014434 LHX9 Silent exm134779 1 197887095 [A/G] NM_001014434,NM_020204 LHX9,LHX9 EXON Missense_A39T,Missense_A48T exm134780 1 197887105 [T/C] NM_001014434,NM_020204 LHX9,LHX9 EXON Missense_A42V,Missense_A51V exm134794 1 197890684 [A/G] NM_001014434,NM_020204 LHX9,LHX9 EXON Missense_G201S,Missense_G210S exm134803 1 197890754 [T/C] NM_001014434,NM_020204 LHX9,LHX9 EXON Missense_P224L,Missense_P233L exm1745234 1 197890772 [T/G] NM_001014434,NM_020204 LHX9,LHX9 EXON Missense_I230S,Missense_I239S rs12568860 1 197897332 [T/C] NM_001014434,NM_020204 LHX9,LHX9 Silent,Silent exm134811 1 197898187 [A/T] NM_001014434,NM_020204 LHX9,LHX9 EXON Missense_N322I,Missense_N331I rs17644383 1 197912389 [A/G] rs6671069 1 197913101 [T/C] rs1909507 1 197919693 [A/G] rs1475145 1 197959936 [T/C] rs17304978 1 197960889 [A/C] rs1543511 1 197968019 [T/C] rs1125953 1 197968386 [T/C] rs12561995 1 197976444 [A/G] rs2065150 1 197977954 [A/G] rs1114740 1 197982554 [T/C] rs7551861 1 197995961 [A/G] rs6667378 1 198000253 [A/G] rs2093531 1 198011397 [A/G] rs12063190 1 198013103 [T/C] rs2146334 1 198026675 [T/G] rs1233833 1 198036134 [A/G] rs1233827 1 198043697 [A/G] rs12125644 1 198044170 [A/C] rs7529161 1 198051161 [A/G] rs1233817 1 198055493 [T/C] exm2268808 1 198055493 [T/C] rs1233811 1 198068767 [A/G] rs12136149 1 198077025 [T/G] rs10158950 1 198083440 [A/G] rs12735014 1 198087021 [A/G] rs16842431 1 198104472 [A/C] rs6690826 1 198105828 [T/C] rs3762382 1 198128859 [A/G] NM_133494 NEK7 Silent rs6671879 1 198140938 [A/G] NM_133494 NEK7 Silent rs6670073 1 198155858 [A/G] NM_133494 NEK7 Silent rs6428437 1 198165379 [T/G] NM_133494 NEK7 Silent exm134822 1 198201732 [A/C] NM_133494 NEK7 EXON Missense_M8L rs12060034 1 198224252 [A/G] NM_133494 NEK7 Silent newrs72731918 1 198225478 [A/G] NM_133494 NEK7 Silent rs1927252 1 198233907 [A/C] NM_133494 NEK7 Silent variant.9184 1 198248196 [A/G] NM_133494 NEK7 Silent rs6668469 1 198249195 [T/C] NM_133494 NEK7 Silent variant.9185 1 198266370 [A/G] NM_133494 NEK7 EXON Synonymous_E266E rs16842754 1 198277135 [A/C] NM_133494 NEK7 Silent rs1061258 1 198287269 [A/G] NM_133494 NEK7 Silent rs11588882 1 198291707 [A/G] rs6428452 1 198300755 [A/G] rs1556017 1 198315934 [A/G] rs4515818 1 198325719 [T/C] rs6702048 1 198327168 [A/G] rs1008987 1 198333063 [T/C] rs12091692 1 198358658 [A/G] exm-rs4420115 1 198365219 [T/C] rs7545645 1 198389958 [A/G] rs12078566 1 198393815 [A/G] rs4357560 1 198393988 [T/C] rs12039987 1 198410706 [T/C] rs10922421 1 198417152 [T/G] rs2640175 1 198421267 [T/G] rs4477310 1 198436809 [A/C] rs6675274 1 198442748 [A/C] rs4915287 1 198453920 [A/G] rs4915149 1 198454280 [T/C] rs12048578 1 198474448 [T/C] rs2249320 1 198484427 [A/G] rs16843226 1 198484784 [A/G] exm134867 1 198492562 [T/C] NM_133262,NM_001320218,NM_133326 ATP6V1G3,ATP6V1G3,ATP6V1G3 EXON Missense_M106V,Missense_M112V,Silent exm134873 1 198498234 [G/C] NM_133262,NM_001320218,NM_133326 ATP6V1G3,ATP6V1G3,ATP6V1G3 EXON Missense_E54Q,Missense_E60Q,Silent exm134874 1 198498263 [A/G] NM_133262,NM_001320218,NM_133326 ATP6V1G3,ATP6V1G3,ATP6V1G3 EXON Missense_I44T,Missense_I50T,Synonymous_N59N exm134875 1 198498299 [T/C] NM_133262,NM_001320218,NM_133326 ATP6V1G3,ATP6V1G3,ATP6V1G3 EXON Missense_R32Q,Missense_R38Q,Synonymous_A47A rs3736929 1 198505546 [T/G] NM_133262,NM_001320218,NM_133326 ATP6V1G3,ATP6V1G3,ATP6V1G3 Silent,Silent,Silent exm134878 1 198505830 [T/C] NM_133262,NM_001320218,NM_133326 ATP6V1G3,ATP6V1G3,ATP6V1G3 EXON Silent,Silent,Missense_R36Q exm134879 1 198505831 [A/G] NM_133262,NM_001320218,NM_133326 ATP6V1G3,ATP6V1G3,ATP6V1G3 EXON Silent,Silent,Nonsense_R36X newrs76330087 1 198505831 [A/G] NM_133262,NM_001320218,NM_133326 ATP6V1G3,ATP6V1G3,ATP6V1G3 EXON Silent,Silent,Nonsense_R36X exm134881 1 198509731 [T/C] NM_133262,NM_001320218,NM_133326 ATP6V1G3,ATP6V1G3,ATP6V1G3 EXON Missense_R17Q,Missense_R17Q,Missense_R17Q exm134882 1 198509732 [A/G] NM_133262,NM_001320218,NM_133326 ATP6V1G3,ATP6V1G3,ATP6V1G3 EXON Missense_R17W,Missense_R17W,Missense_R17W rs16843286 1 198513826 [T/C] rs2359848 1 198520125 [T/G] rs4915303 1 198540028 [T/C] rs16843430 1 198574902 [T/C] exm-rs12127588 1 198595506 [A/G] rs6673408 1 198609305 [A/G] NM_080921,NM_001267798,NM_002838,NR_052021 PTPRC,PTPRC,PTPRC,PTPRC Silent,Silent,Silent,Silent rs6686725 1 198618707 [T/G] NM_080921,NM_001267798,NM_002838,NR_052021 PTPRC,PTPRC,PTPRC,PTPRC Silent,Silent,Silent,Silent rs1326271 1 198619759 [A/G] NM_080921,NM_001267798,NM_002838,NR_052021 PTPRC,PTPRC,PTPRC,PTPRC Silent,Silent,Silent,Silent rs10801677 1 198628483 [A/G] NM_080921,NM_001267798,NM_002838,NR_052021 PTPRC,PTPRC,PTPRC,PTPRC Silent,Silent,Silent,Silent exm2268809 1 198634625 [T/C] NM_080921,NM_001267798,NM_002838,NR_052021 PTPRC,PTPRC,PTPRC,PTPRC Silent,Silent,Silent,Silent rs3767742 1 198634997 [T/C] NM_080921,NM_001267798,NM_002838,NR_052021 PTPRC,PTPRC,PTPRC,PTPRC Silent,Silent,Silent,Silent rs9803750 1 198644124 [T/C] NM_080921,NM_001267798,NM_002838,NR_052021 PTPRC,PTPRC,PTPRC,PTPRC Silent,Silent,Silent,Silent rs2359952 1 198656407 [A/G] NM_080921,NM_001267798,NM_002838,NR_052021 PTPRC,PTPRC,PTPRC,PTPRC Silent,Silent,Silent,Silent variant.9187 1 198665840 [A/G] NM_080921,NM_002838 PTPRC,PTPRC Silent,Silent exm134890 1 198665894 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Silent,Missense_T52A exm134894 1 198666000 [T/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Silent,Missense_P87L exm134898 1 198668731 [T/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Silent,Missense_A113S exm134900 1 198668741 [A/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Silent,Missense_Q116P exm134903 1 198668761 [C/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Silent,Missense_D123H exm134914 1 198671653 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Silent,Missense_T193A rs16843742 1 198672299 [T/C] NM_080921,NM_002838 PTPRC,PTPRC Silent,Silent exm134921 1 198672489 [A/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_T55P,Missense_T216P exm134926 1 198675959 [T/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_G100V,Missense_G261V exm2250459 1 198676014 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Synonymous_A118A,Synonymous_A279A exm134933 1 198676063 [A/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_I135L,Missense_I296L exm134938 1 198677339 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_I167V,Missense_I328V exm134939 1 198677342 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_E168K,Missense_E329K exm134940 1 198677352 [T/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_T171I,Missense_T332I exm134948 1 198678834 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_N190S,Missense_N351S exm134953 1 198682103 [T/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_I237T,Missense_I398T exm134954 1 198682178 [T/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_T262I,Missense_T423I exm134955 1 198682180 [T/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_L263F,Missense_L424F exm134957 1 198685816 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_D272N,Missense_D433N exm134960 1 198685898 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_H299R,Missense_H460R exm134962 1 198685960 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_K320E,Missense_K481E exm134965 1 198687340 [T/A] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_E362V,Missense_E523V exm134968 1 198687384 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_D377N,Missense_D538N exm134976 1 198691595 [A/T] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_H409Q,Missense_H570Q rs12120762 1 198699793 [T/C] NM_080921,NM_002838 PTPRC,PTPRC Silent,Silent rs7540378 1 198704294 [T/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Synonymous_G611G,Synonymous_G772G exm134996 1 198704313 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_V618I,Missense_V779I rs11589894 1 198705081 [A/G] NM_080921,NM_002838 PTPRC,PTPRC Silent,Silent exm134999 1 198711084 [C/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_L669F,Missense_L830F exm135018 1 198717311 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_N813S,Missense_N974S exm135021 1 198718604 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_D839N,Missense_D1000N exm135032 1 198721822 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_V983I,Missense_V1144I variant.9188 1 198721906 [A/G] NM_080921,NM_002838 PTPRC,PTPRC Silent,Silent exm135035 1 198723400 [A/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_D1010A,Missense_D1171A exm135036 1 198723433 [T/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_L1021S,Missense_L1182S exm135040 1 198723466 [A/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_E1032A,Missense_E1193A exm135042 1 198723502 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_R1044H,Missense_R1205H exm135044 1 198725059 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_V1063I,Missense_V1224I exm135052 1 198725233 [G/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_E1121Q,Missense_E1282Q exm135055 1 198725303 [G/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_G1144A,Missense_G1305A rs7538393 1 198745866 [T/C] rs2784115 1 198751401 [A/G] rs2784103 1 198760554 [T/C] rs10919581 1 198769899 [A/G] rs2784110 1 198780386 [A/G] NR_040073 MIR181A1HG Silent rs1575394 1 198785494 [A/G] NR_040073 MIR181A1HG Silent rs12144017 1 198788077 [A/G] NR_040073 MIR181A1HG Silent rs1359020 1 198790120 [A/G] NR_040073 MIR181A1HG Silent rs4141743 1 198807259 [T/C] NR_040073 MIR181A1HG Silent rs12042054 1 198807862 [T/C] NR_040073 MIR181A1HG Silent rs6701884 1 198837151 [A/G] NR_040073 MIR181A1HG Silent rs1007939 1 198844315 [A/C] NR_040073 MIR181A1HG Silent rs10800596 1 198845784 [A/G] NR_040073 MIR181A1HG Silent rs1322916 1 198876258 [T/C] NR_040073 MIR181A1HG Silent rs7540461 1 198876858 [T/C] NR_040073 MIR181A1HG Silent rs10919605 1 198898427 [T/C] NR_040073 MIR181A1HG Silent rs12047947 1 198915057 [T/C] rs6703089 1 198920036 [A/C] rs7550308 1 198934601 [T/C] rs1892433 1 198961568 [A/G] rs2186188 1 198991093 [A/G] NR_126351 LINC01221 Silent rs12125200 1 198992043 [A/G] NR_126351 LINC01221 Silent rs12756679 1 198995597 [T/G] NR_126351 LINC01221 Silent rs12239523 1 199019492 [T/G] NR_126351 LINC01221 Silent rs322931 1 199019855 [A/G] NR_126351 LINC01221 Silent rs962793 1 199034906 [A/G] NR_126351 LINC01221 Silent rs16844162 1 199054666 [T/C] rs322904 1 199086009 [T/C] rs322875 1 199102610 [T/C] rs10753846 1 199114986 [A/C] rs3861923 1 199116609 [T/C] rs1471646 1 199134239 [T/C] NR_147896 LOC400800 Silent rs12068990 1 199134987 [T/G] NR_147896 LOC400800 Silent rs975222 1 199136768 [T/C] NR_147896 LOC400800 Silent rs6667273 1 199145557 [A/C] NR_147896 LOC400800 Silent rs6684332 1 199150453 [T/C] NR_147896 LOC400800 Silent rs12088621 1 199174106 [A/G] NR_147896 LOC400800 Silent rs6427760 1 199181905 [T/C] NR_147896 LOC400800 Silent rs12727107 1 199185297 [A/G] NR_147896 LOC400800 Silent rs10800619 1 199193889 [A/G] NR_147896 LOC400800 Silent rs1482658 1 199204879 [T/G] NR_147896 LOC400800 Silent rs1325187 1 199217307 [A/C] NR_147896 LOC400800 Silent rs7538098 1 199231736 [T/G] NR_147896 LOC400800 Silent exm2265071 1 199238445 [A/G] NR_147896 LOC400800 Silent rs9662783 1 199238445 [A/G] NR_147896 LOC400800 Silent rs10919655 1 199248661 [A/G] NR_147896 LOC400800 Silent rs6697569 1 199254953 [A/G] NR_147896 LOC400800 Silent rs881576 1 199257785 [A/C] NR_147896 LOC400800 Silent rs12075138 1 199265270 [T/C] NR_147896 LOC400800 Silent rs11579522 1 199266874 [A/G] NR_147896 LOC400800 Silent rs723692 1 199270943 [A/G] NR_147896 LOC400800 Silent exm2268810 1 199274467 [T/C] NR_147896 LOC400800 Silent rs7546413 1 199274467 [T/C] NR_147896 LOC400800 Silent rs1013937 1 199282009 [A/C] NR_147896 LOC400800 Silent rs10800624 1 199291722 [T/C] NR_147896 LOC400800 Silent rs1561144 1 199298683 [T/C] NR_147896 LOC400800 Silent rs645943 1 199316461 [T/C] NR_147896 LOC400800 Silent rs6669877 1 199328001 [T/C] NR_147896 LOC400800 Silent rs576141 1 199329274 [A/G] NR_147896 LOC400800 Silent rs670197 1 199346031 [A/C] NR_147896 LOC400800 Silent rs1898240 1 199347080 [A/G] NR_147896 LOC400800 Silent rs12065723 1 199348842 [A/G] NR_147896 LOC400800 Silent exm-rs16844716 1 199356516 [A/C] NR_147896 LOC400800 Silent rs1819293 1 199357512 [T/C] NR_147896 LOC400800 Silent rs611739 1 199360836 [A/G] NR_147896 LOC400800 EXON Silent rs571609 1 199362216 [T/C] NR_147896 LOC400800 EXON Silent rs585476 1 199377000 [A/C] rs528227 1 199386880 [T/C] rs16844836 1 199419004 [T/G] rs2184965 1 199424523 [T/C] rs10800628 1 199427140 [A/G] rs6658450 1 199428249 [T/C] rs1590636 1 199433291 [T/C] rs6427769 1 199437760 [T/G] rs12144397 1 199438213 [A/G] exm2268811 1 199441521 [T/C] rs10494793 1 199442312 [A/G] rs12124166 1 199471616 [T/C] rs6683501 1 199486414 [A/G] rs10494797 1 199496362 [T/C] rs2786723 1 199521371 [T/G] rs6691743 1 199531025 [A/G] rs1415661 1 199539063 [T/G] rs12077577 1 199543548 [T/C] rs2812261 1 199544559 [T/G] rs16845170 1 199557306 [A/G] rs2786738 1 199557772 [T/C] rs4612653 1 199588458 [T/C] rs12725952 1 199593842 [T/C] rs4290087 1 199598783 [A/G] rs4301659 1 199608286 [A/G] rs4369252 1 199610237 [T/G] rs4431873 1 199611059 [A/G] rs4915182 1 199623013 [A/G] rs4623735 1 199629438 [T/G] rs16845384 1 199634402 [T/C] rs16845393 1 199636944 [T/G] rs2435240 1 199690702 [T/C] rs16845432 1 199691414 [T/C] rs2435242 1 199691458 [T/C] rs17655162 1 199707262 [T/C] rs1549712 1 199709386 [A/G] rs35976751 1 199744142 [A/G] rs1366978 1 199778956 [T/C] rs265450 1 199779779 [T/C] rs12027362 1 199792844 [A/G] rs7528943 1 199797615 [T/C] rs6700960 1 199801373 [T/C] rs12096427 1 199822974 [A/G] rs1425791 1 199832023 [A/G] rs10919757 1 199844057 [T/C] rs6656594 1 199864160 [A/G] rs12759783 1 199881715 [A/G] rs6677214 1 199889671 [T/G] rs755556 1 199902929 [A/G] rs1991245 1 199925306 [A/G] rs4915398 1 199926184 [A/G] rs4465241 1 199963622 [T/C] rs4147452 1 199964344 [A/G] rs4244145 1 199971261 [A/G] rs2816939 1 199985700 [T/C] rs9427440 1 199995418 [A/G] exm135099 1 199997003 [T/A] NM_205860,NM_003822 NR5A2,NR5A2 EXON Missense_L10I,Missense_L10I rs2816949 1 199997778 [A/G] NM_205860,NM_003822 NR5A2,NR5A2 Silent,Silent exm2259928 1 199997778 [A/G] NM_205860,NM_003822 NR5A2,NR5A2 Silent,Silent rs3790854 1 200000125 [A/G] NM_205860,NM_003822 NR5A2,NR5A2 Silent,Silent exm-rs3790844 1 200007432 [A/G] NM_205860,NM_003822 NR5A2,NR5A2 Silent,Silent exm2273734 1 200017566 [T/C] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 EXON Missense_P244S,Missense_P198S,Missense_P172S exm135143 1 200017720 [T/C] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 EXON Missense_T295M,Missense_T249M,Missense_T223M rs2821372 1 200021261 [A/G] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2737641 1 200022667 [A/G] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2816913 1 200031107 [T/C] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs10919806 1 200037727 [T/C] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs3828112 1 200042031 [T/C] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2737654 1 200046444 [T/G] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2737665 1 200062389 [A/G] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2816999 1 200066752 [T/C] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2249150 1 200083654 [A/G] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs3762398 1 200090120 [A/G] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2816959 1 200101481 [A/G] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent exm2268812 1 200107578 [T/C] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2737619 1 200107578 [T/C] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs16846145 1 200126772 [A/G] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs3790791 1 200129258 [A/G] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs10494809 1 200132084 [T/C] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs10494810 1 200136582 [A/G] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2246923 1 200139350 [T/C] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs1524163 1 200139792 [A/G] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2246209 1 200145533 [A/G] NM_205860,NM_003822,NM_001276464 NR5A2,NR5A2,NR5A2 EXON Silent,Silent,Silent rs4915195 1 200150738 [A/G] exm-rs4551624 1 200151824 [T/C] rs10919830 1 200154474 [A/G] rs12088130 1 200161148 [T/C] rs12562944 1 200162670 [T/C] rs6694617 1 200167658 [A/G] rs10919843 1 200176068 [A/G] rs10919845 1 200178964 [A/C] exm135186 1 200182788 [T/C] exm135192 1 200182970 [A/G] exm135207 1 200183278 [T/C] exm135214 1 200183398 [A/C] rs7521914 1 200187645 [T/C] rs7547703 1 200192024 [A/G] rs7526221 1 200192838 [T/G] rs3861927 1 200199414 [T/C] rs10919858 1 200204364 [A/C] rs10919862 1 200221769 [A/G] rs12047019 1 200222777 [A/G] rs10919870 1 200234381 [A/C] rs10919876 1 200247025 [T/C] rs6427814 1 200255788 [A/C] rs34959467 1 200259938 [T/C] rs10429903 1 200261547 [A/G] rs9787012 1 200261628 [T/C] rs2153279 1 200263697 [A/C] rs2790125 1 200285880 [T/C] rs10494812 1 200299440 [A/G] rs7553682 1 200308381 [T/G] rs2790129 1 200324744 [A/G] NR_040064 LINC00862 Silent rs12074726 1 200347489 [T/C] rs12141206 1 200366091 [A/G] rs2790108 1 200369696 [T/C] exm135226 1 200376527 [T/C] NM_012482,NM_001281294,NM_001281293 ZNF281,ZNF281,ZNF281 EXON Missense_I769M,Missense_I733M,Missense_I769M exm135239 1 200376786 [T/C] NM_012482,NM_001281294,NM_001281293 ZNF281,ZNF281,ZNF281 EXON Missense_S683N,Missense_S647N,Missense_S683N exm135247 1 200377105 [T/C] NM_012482,NM_001281294,NM_001281293 ZNF281,ZNF281,ZNF281 EXON Missense_N577D,Missense_N541D,Missense_N577D exm135262 1 200377552 [T/C] NM_012482,NM_001281294,NM_001281293 ZNF281,ZNF281,ZNF281 EXON Missense_I428V,Missense_I392V,Missense_I428V exm135272 1 200378080 [T/C] NM_012482,NM_001281294,NM_001281293 ZNF281,ZNF281,ZNF281 EXON Missense_A252T,Missense_A216T,Missense_A252T exm1745569 1 200378161 [T/G] NM_012482,NM_001281294,NM_001281293 ZNF281,ZNF281,ZNF281 EXON Missense_K225Q,Missense_K189Q,Missense_K225Q exm135285 1 200378442 [T/C] NM_012482,NM_001281294,NM_001281293 ZNF281,ZNF281,ZNF281 EXON Missense_K131R,Missense_K95R,Missense_K131R rs10494814 1 200403095 [T/C] rs7544904 1 200404343 [T/C] rs10919930 1 200417272 [A/C] rs12095036 1 200423841 [A/C] rs12058730 1 200437506 [A/G] rs7546093 1 200450197 [A/C] rs4506486 1 200453320 [T/C] rs7549548 1 200481555 [T/C] rs4418638 1 200481934 [A/G] rs12567052 1 200494416 [A/G] rs10919967 1 200502671 [A/G] rs7516247 1 200511466 [T/C] exm135301 1 200522566 [C/G] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_P1633A,Missense_P1142A exm135307 1 200522620 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_G1615S,Missense_G1124S exm135309 1 200522628 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_G1612E,Missense_G1121E exm135321 1 200528471 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_C1447Y,Missense_C956Y exm135326 1 200528567 [A/T] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_D1415V,Missense_D924V rs10919976 1 200529259 [T/C] NM_014875,NM_001305792 KIF14,KIF14 Silent,Silent exm135328 1 200529954 [C/G] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_Q1376E,Missense_Q885E rs7543730 1 200534248 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Synonymous_E1340E,Synonymous_E849E exm135332 1 200534255 [T/A] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_E1338V,Missense_E847V exm135335 1 200534651 [T/G] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_S1270R,Missense_S779R exm135340 1 200534726 [T/A] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_L1245M,Missense_L754M exm135342 1 200539038 [A/C] NM_014875,NM_001305792 KIF14,KIF14 Silent,Silent newrs151249558 1 200539038 [A/C] NM_014875,NM_001305792 KIF14,KIF14 Silent,Silent exm1745590 1 200539040 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Synonymous_S1220S,Synonymous_S729S exm135344 1 200539080 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_Q1207R,Missense_Q716R exm135345 1 200539089 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_H1204R,Missense_H713R exm135347 1 200539111 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_R1197G,Missense_R706G exm135362 1 200550369 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_A1099T,Missense_A608T exm135365 1 200550390 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_M1092V,Missense_M601V exm135366 1 200550417 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_T1083A,Missense_T592A exm135370 1 200555289 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_I1061V,Missense_I570V rs4504918 1 200557767 [T/C] NM_014875,NM_001305792 KIF14,KIF14 Silent,Silent exm135373 1 200558376 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_R1028Q,Missense_R537Q variant.9201 1 200559375 [A/G] NM_014875,NM_001305792 KIF14,KIF14 EXON Nonsense_Q947X,Nonsense_Q456X exm135380 1 200561238 [T/G] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_K928T,Missense_K437T indel.9202 1 200561249 [I/D] NM_014875,NM_001305792 KIF14,KIF14 EXON exm135383 1 200561290 [A/G] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_S911P,Missense_S420P rs16846948 1 200561456 [T/C] NM_014875,NM_001305792 KIF14,KIF14 Silent,Silent rs10494824 1 200563971 [A/G] NM_014875,NM_001305792 KIF14,KIF14 Silent,Silent exm135390 1 200567387 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_V843M,Missense_V352M exm1745613 1 200567392 [A/G] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_S841F,Missense_S350F exm135400 1 200569234 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_K770E,Missense_K279E rs2809357 1 200569392 [A/C] NM_014875,NM_001305792 KIF14,KIF14 Silent,Silent exm135407 1 200569583 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_R734Q,Missense_R243Q exm135413 1 200571080 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_R699H,Missense_R208H exm135414 1 200571081 [A/G] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_R699C,Missense_R208C exm135432 1 200574499 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_N553S,Missense_N62S rs2794410 1 200575794 [A/G] NM_014875,NM_001305792 KIF14,KIF14 Silent,Silent exm135446 1 200583529 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_M458V,Silent exm135451 1 200584666 [A/G] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_T395M,Silent exm1745635 1 200586759 [A/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_V365L,Silent exm135456 1 200586765 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_V363I,Silent exm135457 1 200586835 [T/A] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_E339D,Silent exm135462 1 200586911 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_K314R,Silent var_1_200587093 1 200587094 [I/D] NM_014875,NM_001305792 KIF14,KIF14 EXON indel.9209 1 200587330 [I/D] NM_014875,NM_001305792 KIF14,KIF14 EXON exm135481 1 200587506 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_E116K,Silent exm135483 1 200587587 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_A89T,Silent exm135486 1 200587632 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_K74E,Silent exm135487 1 200587680 [G/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_G58R,Silent exm135488 1 200587701 [T/C] NM_014875,NM_001305792 KIF14,KIF14 EXON Missense_D51N,Silent rs2808248 1 200592275 [T/C] rs12744809 1 200593325 [T/C] var_1_200594086 1 200594086 [T/C] newrs139595468 1 200594133 [A/G] rs6695836 1 200611710 [T/C] NM_001320181,NM_001349802 DDX59,DDX59 Silent,Silent variant.9212 1 200613522 [A/G] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Silent,Silent,Nonsense_Q490X,Nonsense_Q460X,Nonsense_Q531X,Nonsense_Q396X,Nonsense_Q574X,Nonsense_Q574X,Nonsense_Q574X exm135512 1 200613555 [A/G] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Silent,Silent,Nonsense_R479X,Nonsense_R449X,Nonsense_R520X,Nonsense_R385X,Nonsense_R563X,Nonsense_R563X,Nonsense_R563X indel.9214 1 200617616 [I/D] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON exm135520 1 200617625 [T/C] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Missense_S513N,Missense_S513N,Missense_S429N,Missense_S399N,Silent,Silent,Missense_S513N,Missense_S513N,Missense_S513N exm135521 1 200617644 [A/G] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Nonsense_R507X,Nonsense_R507X,Nonsense_R423X,Nonsense_R393X,Silent,Silent,Nonsense_R507X,Nonsense_R507X,Nonsense_R507X newrs139985556 1 200617644 [A/G] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Nonsense_R507X,Nonsense_R507X,Nonsense_R423X,Nonsense_R393X,Silent,Silent,Nonsense_R507X,Nonsense_R507X,Nonsense_R507X variant.9216 1 200617647 [A/C] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Nonsense_G506X,Nonsense_G506X,Nonsense_G422X,Nonsense_G392X,Silent,Silent,Nonsense_G506X,Nonsense_G506X,Nonsense_G506X exm135523 1 200617655 [T/C] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Missense_G503E,Missense_G503E,Missense_G419E,Missense_G389E,Silent,Silent,Missense_G503E,Missense_G503E,Missense_G503E exm135529 1 200618246 [T/C] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Missense_I475V,Missense_I475V,Missense_I391V,Missense_I361V,Missense_I475V,Silent,Missense_I475V,Missense_I475V,Missense_I475V exm135531 1 200618278 [A/G] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Missense_V464A,Missense_V464A,Missense_V380A,Missense_V350A,Missense_V464A,Silent,Missense_V464A,Missense_V464A,Missense_V464A exm135534 1 200618311 [T/C] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Missense_C453Y,Missense_C453Y,Missense_C369Y,Missense_C339Y,Missense_C453Y,Silent,Missense_C453Y,Missense_C453Y,Missense_C453Y exm135535 1 200618332 [A/G] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Missense_P446L,Missense_P446L,Missense_P362L,Missense_P332L,Missense_P446L,Silent,Missense_P446L,Missense_P446L,Missense_P446L exm135548 1 200619614 [T/C] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Missense_R418H,Missense_R418H,Silent,Silent,Missense_R418H,Silent,Missense_R418H,Missense_R418H,Missense_R418H exm135551 1 200619654 [T/C] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Missense_I405V,Missense_I405V,Silent,Silent,Missense_I405V,Silent,Missense_I405V,Missense_I405V,Missense_I405V rs16847099 1 200631885 [T/G] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm135563 1 200633073 [T/G] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Missense_L316I,Missense_L316I,Missense_L316I,Missense_L316I,Missense_L316I,Missense_L316I,Missense_L316I,Missense_L316I,Missense_L316I exm135567 1 200635067 [T/C] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Missense_E268K,Missense_E268K,Missense_E268K,Missense_E268K,Missense_E268K,Missense_E268K,Missense_E268K,Missense_E268K,Missense_E268K exm135577 1 200635358 [A/G] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Missense_H171Y,Missense_H171Y,Missense_H171Y,Missense_H171Y,Missense_H171Y,Missense_H171Y,Missense_H171Y,Missense_H171Y,Missense_H171Y exm135580 1 200635372 [T/C] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Missense_Y166C,Missense_Y166C,Missense_Y166C,Missense_Y166C,Missense_Y166C,Missense_Y166C,Missense_Y166C,Missense_Y166C,Missense_Y166C exm1745654 1 200635460 [C/G] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Missense_L137V,Missense_L137V,Missense_L137V,Missense_L137V,Missense_L137V,Missense_L137V,Missense_L137V,Missense_L137V,Missense_L137V exm135584 1 200635483 [A/C] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Missense_L129W,Missense_L129W,Missense_L129W,Missense_L129W,Missense_L129W,Missense_L129W,Missense_L129W,Missense_L129W,Missense_L129W exm1745656 1 200635541 [A/C] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Missense_V110F,Missense_V110F,Missense_V110F,Missense_V110F,Missense_V110F,Missense_V110F,Missense_V110F,Missense_V110F,Missense_V110F exm135589 1 200635550 [T/C] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Missense_I107V,Missense_I107V,Missense_I107V,Missense_I107V,Missense_I107V,Missense_I107V,Missense_I107V,Missense_I107V,Missense_I107V exm135596 1 200635721 [G/C] NM_001320181,NM_001349802,NM_001349803,NM_001320182,NM_001349801,NM_001349804,NM_001349800,NM_001349799,NM_001031725 DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59,DDX59 EXON Missense_A50P,Missense_A50P,Missense_A50P,Missense_A50P,Missense_A50P,Missense_A50P,Missense_A50P,Missense_A50P,Missense_A50P rs3806358 1 200639683 [T/G] NR_110787 LOC101929224 Silent rs4437908 1 200648439 [A/G] NR_110787 LOC101929224 Silent rs6665979 1 200650063 [A/G] NR_110787 LOC101929224 Silent rs4378238 1 200652600 [T/C] NR_110787 LOC101929224 Silent rs4915451 1 200659854 [T/G] NR_110787 LOC101929224 Silent rs7542210 1 200662215 [T/C] NR_110787 LOC101929224 Silent exm2268813 1 200672410 [T/G] rs7535122 1 200672699 [A/G] exm-rs7512898 1 200672906 [T/G] rs1389644 1 200682721 [A/G] rs7519896 1 200692665 [A/G] rs6660197 1 200703541 [T/C] rs10494819 1 200704754 [T/C] rs10920017 1 200707090 [A/G] exm1745665 1 200709059 [A/G] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_N35S,Missense_N35S,Missense_N35S exm135602 1 200709061 [C/G] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_L36V,Missense_L36V,Missense_L36V rs7529518 1 200718422 [T/C] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 Silent,Silent,Silent rs7520287 1 200750576 [A/G] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 Silent,Silent,Silent rs6427859 1 200780153 [A/C] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 Silent,Silent,Silent exm135630 1 200801406 [A/G] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_T253A,Missense_T242A,Missense_T242A exm135632 1 200801451 [A/G] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_D268N,Missense_D257N,Missense_D257N exm135635 1 200801935 [A/G] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_T308A,Missense_T297A,Missense_T297A variant.9218 1 200816336 [A/C] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 Silent,Silent,Silent exm135639 1 200816348 [T/G] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_A385S,Silent,Missense_A374S exm135640 1 200816372 [T/C] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_H393Y,Silent,Missense_H382Y exm135648 1 200817258 [A/G] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_N465S,Missense_N438S,Missense_N454S exm135650 1 200817285 [A/G] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_H474R,Missense_H447R,Missense_H463R exm135652 1 200817319 [A/C] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_F485L,Missense_F458L,Missense_F474L exm135656 1 200817399 [A/G] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_C512Y,Missense_C485Y,Missense_C501Y exm135664 1 200817765 [T/C] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_M634T,Missense_M607T,Missense_M623T exm135670 1 200817836 [A/C] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_L658I,Missense_L631I,Missense_L647I exm135676 1 200817998 [A/G] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_D712N,Missense_D685N,Missense_D701N exm135690 1 200818407 [T/G] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_I848R,Missense_I821R,Missense_I837R exm135692 1 200818463 [A/G] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_I867V,Missense_I840V,Missense_I856V exm2232193 1 200818770 [T/C] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_P969L,Missense_P942L,Missense_P958L exm135699 1 200818827 [T/C] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_T988I,Missense_T961I,Missense_T977I exm1745718 1 200818979 [T/C] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_P1039S,Missense_P1012S,Missense_P1028S exm135702 1 200818980 [G/C] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_P1039R,Missense_P1012R,Missense_P1028R exm135706 1 200819229 [A/G] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_N1122S,Missense_N1095S,Missense_N1111S exm135716 1 200822482 [T/C] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_R1239W,Missense_R1212W,Missense_R1228W 1KG_1_200823982 1 200823982 [I/D] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON var_1_200825258 1 200825258 [A/G] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 Silent,Silent,Silent rs2292096 1 200826769 [A/G] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 Silent,Silent,Silent exm135738 1 200827126 [A/G] NM_001297707,NM_001297708,NM_203459 CAMSAP2,CAMSAP2,CAMSAP2 EXON Missense_S1470N,Missense_S1443N,Missense_S1459N rs7514015 1 200829992 [T/C] exm135743 1 200842245 [T/C] NM_005298 GPR25 EXON Missense_L27P exm135770 1 200843127 [C/G] NM_005298 GPR25 EXON Missense_G321A exm135773 1 200843212 [A/C] NM_005298 GPR25 EXON Nonsense_C349X rs2292099 1 200844340 [T/G] rs10800745 1 200849676 [A/G] rs12564878 1 200852820 [A/G] rs6427864 1 200859413 [T/C] rs296533 1 200865768 [T/G] NM_018265,NM_001142569 INAVA,INAVA Silent,Silent exm1745752 1 200867482 [A/G] NM_018265,NM_001142569 INAVA,INAVA EXON Missense_R84Q,Silent exm135786 1 200867503 [A/G] NM_018265,NM_001142569 INAVA,INAVA EXON Missense_C91Y,Silent exm135789 1 200867572 [A/T] NM_018265,NM_001142569 INAVA,INAVA EXON Missense_I114N,Missense_I15N exm135799 1 200869239 [T/C] NM_018265,NM_001142569 INAVA,INAVA EXON Missense_T162M,Missense_T63M exm1745762 1 200870222 [A/G] NM_018265,NM_001142569 INAVA,INAVA EXON Missense_R251H,Missense_R152H rs7554511 1 200877562 [A/C] NM_018265,NM_001142569 INAVA,INAVA Silent,Silent exm-rs7554511 1 200877562 [A/C] NM_018265,NM_001142569 INAVA,INAVA Silent,Silent exm135824 1 200877909 [A/G] NM_018265,NM_001142569 INAVA,INAVA EXON Missense_R308Q,Missense_R209Q exm135830 1 200877974 [T/C] NM_018265,NM_001142569 INAVA,INAVA EXON Missense_R330W,Missense_R231W exm135832 1 200878026 [T/A] NM_018265,NM_001142569 INAVA,INAVA EXON Missense_Y347F,Missense_Y248F exm135835 1 200878061 [A/G] NM_018265,NM_001142569 INAVA,INAVA EXON Missense_E359K,Missense_E260K exm1745767 1 200878437 [T/C] NM_018265,NM_001142569 INAVA,INAVA EXON Missense_R390C,Missense_R291C exm135852 1 200880682 [A/C] NM_018265,NM_001142569 INAVA,INAVA EXON Missense_P453H,Missense_P354H exm135854 1 200880702 [T/C] NM_018265,NM_001142569 INAVA,INAVA EXON Missense_P460S,Missense_P361S exm135860 1 200880817 [C/G] NM_018265,NM_001142569 INAVA,INAVA EXON Missense_S498C,Missense_S399C rs296522 1 200881940 [T/C] NM_018265,NM_001142569 INAVA,INAVA Silent,Silent exm135875 1 200882687 [A/G] NM_018265,NM_001142569 INAVA,INAVA EXON Missense_R655Q,Missense_R556Q rs296543 1 200889833 [T/C] exm-rs296547 1 200892137 [T/C] rs296547 1 200892137 [T/C] rs13374187 1 200905049 [A/G] NR_147176 MROH3P Silent rs396029 1 200921385 [A/G] NR_147176 MROH3P Silent rs4915471 1 200934432 [T/C] NR_147176 MROH3P Silent exm-rs11584383 1 200935866 [T/C] rs10494829 1 200938029 [A/G] exm135882 1 200943291 [A/G] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Silent,Missense_P1616S,Silent,Missense_P1603S exm135883 1 200943861 [A/G] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_H1586Y,Missense_H1599Y,Missense_H1599Y,Missense_H1586Y exm2232198 1 200944710 [T/C] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_A1498T,Missense_A1511T,Missense_A1511T,Missense_A1498T exm135908 1 200945956 [A/G] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_T1451M,Missense_T1464M,Missense_T1464M,Missense_T1451M exm1745805 1 200956152 [T/C] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_V1196I,Missense_V1196I,Missense_V1196I,Missense_V1196I exm2275362 1 200957662 [A/G] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Synonymous_Y1103Y,Synonymous_Y1103Y,Synonymous_Y1103Y,Synonymous_Y1103Y exm135989 1 200959266 [T/C] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Synonymous_K1010K,Synonymous_K1010K,Synonymous_K1010K,Synonymous_K1010K exm2250472 1 200959302 [A/G] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Synonymous_D998D,Synonymous_D998D,Synonymous_D998D,Synonymous_D998D exm1745813 1 200959760 [T/C] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_V927I,Missense_V927I,Missense_V927I,Missense_V927I exm136011 1 200960091 [A/T] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_L881M,Missense_L881M,Missense_L881M,Missense_L881M exm136015 1 200960180 [A/G] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_S851L,Missense_S851L,Missense_S851L,Missense_S851L exm136016 1 200960204 [A/G] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_M843T,Missense_M843T,Missense_M843T,Missense_M843T exm136020 1 200960225 [T/C] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_R836H,Missense_R836H,Missense_R836H,Missense_R836H exm-rs2297909 1 200960307 [A/G] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B Silent,Silent,Silent,Silent exm136028 1 200961441 [A/G] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_A785V,Missense_A785V,Missense_A785V,Missense_A785V rs10800750 1 200964578 [A/G] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B Silent,Silent,Silent,Silent exm136055 1 200967638 [T/C] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_D651N,Missense_D651N,Missense_D651N,Missense_D651N exm136090 1 200971329 [G/C] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_Q454H,Missense_Q454H,Missense_Q454H,Missense_Q454H rs10920090 1 200972454 [T/C] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B Silent,Silent,Silent,Silent exm136134 1 200974729 [T/C] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_N181D,Missense_N181D,Missense_N181D,Missense_N181D rs10920091 1 200975064 [A/G] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B Silent,Silent,Silent,Silent exm136143 1 200977949 [T/C] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_Q132R,Missense_Q132R,Missense_Q132R,Missense_Q132R exm2250473 1 200977990 [T/G] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Synonymous_A118A,Synonymous_A118A,Synonymous_A118A,Synonymous_A118A exm136153 1 200978030 [A/G] NM_001252103,NM_001252100,NM_001252102,NM_017596 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_T105M,Missense_T105M,Missense_T105M,Missense_T105M rs12081096 1 200998358 [A/G] rs10920099 1 201003606 [A/G] exm136174 1 201009011 [T/C] NM_000069 CACNA1S EXON Missense_S1857N exm136179 1 201009066 [A/G] NM_000069 CACNA1S EXON Missense_P1839S exm136180 1 201009071 [T/G] NM_000069 CACNA1S EXON Missense_E1837A rs12139527 1 201009182 [A/G] NM_000069 CACNA1S EXON Missense_L1800S exm136182 1 201009182 [A/G] NM_000069 CACNA1S EXON Missense_L1800S rs1546416 1 201009556 [A/G] NM_000069 CACNA1S Silent exm136193 1 201010719 [T/C] NM_000069 CACNA1S Silent exm136194 1 201012449 [A/T] NM_000069 CACNA1S EXON Missense_Y1670N exm136201 1 201012484 [T/C] NM_000069 CACNA1S EXON Missense_R1658H exm136202 1 201012485 [A/G] NM_000069 CACNA1S EXON Missense_R1658C exm136203 1 201012503 [A/G] NM_000069 CACNA1S EXON Missense_R1652C exm136205 1 201012541 [A/T] NM_000069 CACNA1S EXON Missense_E1639V exm136215 1 201013506 [T/C] NM_000069 CACNA1S EXON Missense_E1583K exm136216 1 201013535 [A/G] NM_000069 CACNA1S EXON Missense_T1573M exm136219 1 201013548 [T/C] NM_000069 CACNA1S EXON Missense_E1569K exm136224 1 201016296 [A/G] NM_000069 CACNA1S EXON Missense_R1539C exm136255 1 201020164 [A/G] NM_000069 CACNA1S EXON Missense_T1354I exm136256 1 201020165 [A/T] NM_000069 CACNA1S EXON Missense_T1354S rs3767498 1 201020727 [A/G] NM_000069 CACNA1S Silent exm136270 1 201021733 [T/C] NM_000069 CACNA1S EXON Missense_R1302Q exm136275 1 201022387 [T/C] NM_000069 CACNA1S EXON Missense_A1271T exm136279 1 201022587 [A/C] NM_000069 CACNA1S EXON Missense_Q1265H exm136285 1 201023671 [T/C] NM_000069 CACNA1S EXON Missense_G1210R rs3767503 1 201025682 [A/C] NM_000069 CACNA1S Silent variant.9244 1 201027536 [A/G] NM_000069 CACNA1S EXON Synonymous_D1203D exm136292 1 201028388 [T/C] NM_000069 CACNA1S EXON Missense_I1152V exm136293 1 201028417 [T/G] NM_000069 CACNA1S EXON Missense_Q1142P exm136297 1 201029794 [T/C] NM_000069 CACNA1S EXON Missense_G1136S exm136299 1 201029866 [A/C] NM_000069 CACNA1S EXON Missense_W1112G exm136321 1 201031133 [T/C] NM_000069 CACNA1S EXON Missense_D998N exm136324 1 201031168 [T/C] NM_000069 CACNA1S EXON Missense_R986H exm136348 1 201036117 [A/G] NM_000069 CACNA1S EXON Missense_T852M exm136350 1 201038610 [A/G] NM_000069 CACNA1S EXON Missense_M827T exm136354 1 201038650 [T/C] NM_000069 CACNA1S EXON Missense_A814T exm2232205 1 201038709 [T/C] NM_000069 CACNA1S EXON Missense_R794H rs9427712 1 201041198 [A/G] NM_000069 CACNA1S Silent exm136370 1 201042735 [A/G] NM_000069 CACNA1S EXON Missense_T700M rs2296386 1 201042983 [A/G] NM_000069 CACNA1S Silent exm136374 1 201043649 [T/C] NM_000069 CACNA1S EXON Missense_R683H exm136375 1 201043650 [A/G] NM_000069 CACNA1S EXON Missense_R683C rs3767508 1 201044097 [T/C] NM_000069 CACNA1S Silent var_1_201044622 1 201044622 [T/C] NM_000069 CACNA1S Silent exm136390 1 201044682 [A/G] NM_000069 CACNA1S EXON Missense_P630L exm136400 1 201046058 [T/C] NM_000069 CACNA1S EXON Missense_S606N exm136403 1 201046098 [A/G] NM_000069 CACNA1S EXON Missense_R593W exm136404 1 201046164 [T/C] NM_000069 CACNA1S EXON Missense_V571I exm136407 1 201046205 [T/C] NM_000069 CACNA1S EXON Missense_R557H exm136416 1 201047079 [A/G] NM_000069 CACNA1S EXON Missense_S516L exm2275531 1 201047133 [A/C] NM_000069 CACNA1S EXON Missense_R498L exm1746012 1 201047231 [A/G] NM_000069 CACNA1S EXON Synonymous_D465D rs942705 1 201050046 [T/C] NM_000069 CACNA1S Silent rs942704 1 201050233 [A/C] NM_000069 CACNA1S Silent rs3767511 1 201052199 [T/C] NM_000069 CACNA1S Silent exm136436 1 201052310 [A/T] NM_000069 CACNA1S EXON Missense_L458H exm136441 1 201052358 [A/G] NM_000069 CACNA1S EXON Missense_V442A exm136445 1 201052382 [A/G] NM_000069 CACNA1S EXON Missense_F434S exm136451 1 201054144 [A/T] NM_000069 CACNA1S EXON Missense_D389V exm136453 1 201054159 [T/C] NM_000069 CACNA1S EXON Missense_G384E exm136457 1 201054602 [A/G] NM_000069 CACNA1S EXON Missense_T371M exm136465 1 201058386 [T/C] NM_000069 CACNA1S EXON Nonsense_W300X exm136467 1 201058391 [A/G] NM_000069 CACNA1S EXON Missense_Y299H exm136477 1 201058513 [T/C] NM_000069 CACNA1S EXON Missense_G258D exm136494 1 201061111 [A/G] NM_000069 CACNA1S EXON Missense_S177L exm136497 1 201061160 [T/C] NM_000069 CACNA1S EXON Missense_V161I exm136501 1 201063025 [G/C] NM_000069 CACNA1S EXON Missense_T128S exm136509 1 201063146 [T/C] NM_000069 CACNA1S EXON Missense_K88E rs6699862 1 201068298 [T/C] NM_000069 CACNA1S Silent rs1325311 1 201079088 [A/G] NM_000069 CACNA1S Silent exm136514 1 201079344 [C/G] NM_000069 CACNA1S EXON Missense_A69G variant.9255 1 201081449 [A/G] NM_000069 CACNA1S EXON Nonsense_Q7X rs2281845 1 201081943 [T/C] rs3738262 1 201083343 [A/G] NM_001270601 ASCL5 EXON Silent rs12079819 1 201085420 [A/G] rs10753889 1 201092550 [A/G] exm2264943 1 201100482 [A/G] rs6693143 1 201105488 [A/G] NM_001288568,NM_001288565,NM_016456,NM_001288566,NR_109920,NM_001288569,NR_109921,NM_001288564,NM_001288570,NM_001288571,NM_001288567 TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10920129 1 201109903 [T/C] NM_001288568,NM_001288565,NM_016456,NM_001288566,NR_109920,NM_001288569,NR_109921,NM_001288564,NM_001288570,NM_001288571,NM_001288567 TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7545363 1 201112204 [A/G] NM_001288568,NM_001288565,NM_016456,NM_001288566,NR_109920,NM_001288569,NR_109921,NM_001288564,NM_001288570,NM_001288571,NM_001288567 TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3752978 1 201115822 [A/G] NM_001288568,NM_001288565,NM_016456,NM_001288566,NR_109920,NM_001288569,NR_109921,NM_001288564,NM_001288570,NM_001288571,NM_001288567 TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3767514 1 201117133 [T/C] NM_001288568,NM_001288565,NM_016456,NM_001288566,NR_109920,NM_001288569,NR_109921,NM_001288564,NM_001288570,NM_001288571,NM_001288567 TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9,TMEM9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7542768 1 201125326 [T/C] NM_001288564 TMEM9 Silent rs831748 1 201133955 [T/C] NM_001288564 TMEM9 Silent rs6699983 1 201137527 [A/G] NM_001288564 TMEM9 Silent rs1122396 1 201138428 [A/G] NM_001288564 TMEM9 Silent rs2066284 1 201143774 [T/C] rs16847947 1 201150096 [T/C] rs10920139 1 201155654 [T/C] rs831750 1 201159461 [T/C] exm136557 1 201163290 [T/C] NM_001164586 IGFN1 EXON Missense_R6W exm136560 1 201163305 [A/C] NM_001164586 IGFN1 EXON Missense_P11T exm136561 1 201163306 [G/C] NM_001164586 IGFN1 EXON Missense_P11R rs17508253 1 201164764 [T/C] NM_001164586 IGFN1 Silent rs7533096 1 201166281 [T/C] NM_001164586 IGFN1 Silent exm136571 1 201166383 [A/G] NM_001164586 IGFN1 EXON Missense_R102H rs2365299 1 201169554 [T/G] NM_001164586 IGFN1 Silent exm136595 1 201172932 [T/C] NM_001164586 IGFN1 EXON Missense_R272C exm136598 1 201174215 [A/C] NM_001164586 IGFN1 EXON Missense_P308T exm136604 1 201174312 [C/G] NM_001164586 IGFN1 EXON Missense_A340G exm136614 1 201175227 [A/C] NM_001164586 IGFN1 EXON Missense_D402E rs832156 1 201175227 [A/C] NM_001164586 IGFN1 EXON Missense_D402E exm136617 1 201175274 [A/G] NM_001164586 IGFN1 EXON Missense_Q418R exm136625 1 201175648 [C/G] NM_001164586 IGFN1 EXON Missense_R543G exm136627 1 201175658 [A/G] NM_001164586 IGFN1 EXON Missense_D546G exm136628 1 201175715 [T/G] NM_001164586 IGFN1 EXON Missense_R565L exm136629 1 201175768 [G/C] NM_001164586 IGFN1 EXON Missense_D583H exm136638 1 201176018 [A/G] NM_001164586 IGFN1 EXON Missense_D666G exm136639 1 201176108 [A/G] NM_001164586 IGFN1 EXON Missense_G696D indel.9261 1 201176267 [I/D] NM_001164586 IGFN1 EXON exm136641 1 201176303 [A/G] NM_001164586 IGFN1 EXON Missense_R761Q exm136645 1 201176558 [A/G] NM_001164586 IGFN1 EXON Missense_S846N exm136649 1 201176651 [T/C] NM_001164586 IGFN1 EXON Missense_T877M exm136651 1 201176711 [T/G] NM_001164586 IGFN1 EXON Missense_G897V exm136654 1 201176887 [A/G] NM_001164586 IGFN1 EXON Missense_E956K exm2232215 1 201176942 [T/G] NM_001164586 IGFN1 EXON Missense_S974I exm136655 1 201176968 [A/G] NM_001164586 IGFN1 EXON Missense_M983V exm2250475 1 201177210 [A/G] NM_001164586 IGFN1 EXON Synonymous_A1063A rs7551098 1 201177278 [T/C] NM_001164586 IGFN1 EXON Missense_A1086V exm136659 1 201177278 [T/C] NM_001164586 IGFN1 EXON Missense_A1086V exm136661 1 201177415 [A/G] NM_001164586 IGFN1 EXON Missense_A1132T exm136665 1 201177475 [A/G] NM_001164586 IGFN1 EXON Missense_G1152R exm136666 1 201177538 [T/G] NM_001164586 IGFN1 EXON Missense_A1173S exm136669 1 201177611 [C/G] NM_001164586 IGFN1 EXON Missense_G1197A exm136673 1 201177703 [A/G] NM_001164586 IGFN1 EXON Missense_V1228I indel.9266 1 201178454 [D/I] NM_001164586 IGFN1 EXON exm2232220 1 201178658 [A/C] NM_001164586 IGFN1 EXON Missense_A1546E exm136762 1 201180001 [A/G] NM_001164586 IGFN1 EXON Missense_D1994N exm136765 1 201180032 [T/C] NM_001164586 IGFN1 EXON Missense_A2004V exm136768 1 201180064 [A/G] NM_001164586 IGFN1 EXON Missense_G2015S exm136798 1 201180820 [A/G] NM_001164586 IGFN1 EXON Missense_D2267N exm136804 1 201181070 [T/C] NM_001164586 IGFN1 EXON Missense_T2350M exm136808 1 201181217 [A/G] NM_001164586 IGFN1 EXON Missense_D2399G exm136809 1 201181223 [A/G] NM_001164586 IGFN1 EXON Missense_N2401S exm136815 1 201181447 [T/C] NM_001164586 IGFN1 EXON Missense_P2476S exm136823 1 201181957 [A/G] NM_001164586 IGFN1 EXON Missense_A2646T exm136824 1 201181973 [T/C] NM_001164586 IGFN1 EXON Missense_S2651F exm136826 1 201181994 [A/G] NM_001164586 IGFN1 EXON Missense_D2658G variant.9267 1 201182235 [A/G] NM_001164586 IGFN1 EXON Nonsense_W2738X exm136840 1 201182386 [T/C] NM_001164586 IGFN1 EXON Nonsense_Q2789X exm1746077 1 201182440 [A/G] NM_001164586 IGFN1 EXON Missense_R2807G exm136846 1 201182609 [A/G] NM_001164586 IGFN1 EXON Missense_R2863Q exm136850 1 201182693 [A/G] NM_001164586 IGFN1 EXON Missense_R2891Q exm136859 1 201183364 [A/G] NM_001164586 IGFN1 EXON Missense_A2930T exm136863 1 201183424 [A/G] NM_001164586 IGFN1 EXON Missense_V2950I exm136868 1 201184166 [T/G] NM_001164586 IGFN1 EXON Missense_F2960C exm136869 1 201184195 [T/G] NM_001164586 IGFN1 EXON Missense_F2970V exm136875 1 201184670 [T/C] NM_001164586 IGFN1 EXON Missense_S3000F exm136890 1 201184878 [A/C] NM_001164586 IGFN1 EXON Missense_S3069R exm136893 1 201184906 [A/C] NM_001164586 IGFN1 EXON Missense_S3079R exm136903 1 201185647 [T/C] NM_001164586 IGFN1 EXON Missense_R3121C exm136911 1 201185743 [A/G] NM_001164586 IGFN1 EXON Missense_E3153K exm136914 1 201185752 [A/G] NM_001164586 IGFN1 EXON Missense_A3156T exm136920 1 201185842 [A/G] NM_001164586 IGFN1 EXON Missense_E3186K exm2232235 1 201185862 [G/C] NM_001164586 IGFN1 EXON Missense_E3192D exm136921 1 201185881 [A/G] NM_001164586 IGFN1 EXON Missense_A3199T exm136927 1 201186493 [A/G] NM_001164586 IGFN1 EXON Missense_R3225Q exm136928 1 201186501 [A/G] NM_001164586 IGFN1 EXON Missense_G3228S exm136939 1 201187681 [G/C] NM_001164586 IGFN1 EXON Missense_V3265L exm2265073 1 201188328 [A/G] NM_001164586 IGFN1 Silent rs12076181 1 201190207 [A/G] NM_001164586 IGFN1 Silent exm136950 1 201190614 [T/C] NM_001164586 IGFN1 EXON Missense_S3314L exm136960 1 201190797 [A/G] NM_001164586 IGFN1 EXON Missense_R3375Q exm136962 1 201190827 [A/G] NM_001164586 IGFN1 EXON Missense_S3385N exm136969 1 201191929 [A/G] NM_001164586 IGFN1 EXON Missense_T3422A exm136970 1 201191944 [A/G] NM_001164586 IGFN1 EXON Missense_V3427I rs6687494 1 201193668 [T/G] NM_001164586 IGFN1 Silent exm136974 1 201193849 [T/C] NM_001164586 IGFN1 EXON Missense_P3445S exm136976 1 201193885 [A/G] NM_001164586 IGFN1 EXON Missense_G3457S exm136984 1 201195003 [T/C] NM_001164586 IGFN1 EXON Missense_T3513M exm136988 1 201195014 [A/G] NM_001164586 IGFN1 EXON Missense_E3517K rs3738270 1 201195119 [T/C] NM_001164586 IGFN1 EXON Missense_H3552Y exm137005 1 201195146 [A/G] NM_001164586 IGFN1 EXON Missense_I3561V exm137020 1 201196066 [T/C] NM_001164586 IGFN1 EXON Missense_R3615W exm137035 1 201196177 [T/C] NM_001164586 IGFN1 EXON Missense_R3652C exm137038 1 201196198 [A/G] NM_001164586 IGFN1 EXON Missense_A3659T exm137044 1 201196322 [A/C] NM_001164586 IGFN1 EXON Missense_T3700N rs3738274 1 201197676 [A/G] NM_001164586 IGFN1 EXON Silent rs14061 1 201197781 [T/C] NM_001164586 IGFN1 EXON Silent rs1917348 1 201202490 [T/C] rs10920155 1 201217148 [T/C] rs6427893 1 201218342 [A/G] rs2078570 1 201233751 [T/C] rs4244148 1 201235047 [T/C] rs1857489 1 201237807 [A/G] rs4915501 1 201239651 [T/C] rs16848196 1 201244429 [T/C] exm137054 1 201252984 [A/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_Q52K,Missense_Q52K rs832170 1 201257016 [A/G] NM_001005337,NM_000299 PKP1,PKP1 Silent,Silent rs832174 1 201258519 [A/T] NM_001005337,NM_000299 PKP1,PKP1 Silent,Silent exm-rs860554 1 201262432 [T/C] NM_001005337,NM_000299 PKP1,PKP1 Silent,Silent exm137058 1 201263108 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_G81R,Missense_G81R exm137060 1 201263130 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_Y88C,Missense_Y88C exm137064 1 201263173 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Synonymous_P102P,Synonymous_P102P rs2300293 1 201264902 [T/C] NM_001005337,NM_000299 PKP1,PKP1 Silent,Silent rs713292 1 201265770 [T/C] NM_001005337,NM_000299 PKP1,PKP1 Silent,Silent rs1772847 1 201278862 [T/G] NM_001005337,NM_000299 PKP1,PKP1 Silent,Silent rs832151 1 201280956 [T/C] NM_001005337,NM_000299 PKP1,PKP1 Silent,Silent exm137069 1 201282334 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_R116H,Missense_R116H exm137073 1 201282405 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_A140T,Missense_A140T exm137076 1 201282447 [T/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_R154C,Missense_R154C exm137077 1 201282469 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_C161Y,Missense_C161Y exm137078 1 201282478 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_R164Q,Missense_R164Q exm137081 1 201282531 [A/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_N182H,Missense_N182H exm137082 1 201282573 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_I196V,Missense_I196V exm137085 1 201282592 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_R202H,Missense_R202H rs7514146 1 201285712 [T/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Synonymous_L245L,Synonymous_L245L exm137112 1 201287793 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_I368V,Missense_I368V exm137115 1 201287820 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_D377N,Missense_D377N exm137118 1 201287853 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_D388N,Missense_D388N exm137123 1 201288955 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Silent,Missense_G415D exm137125 1 201288982 [A/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Silent,Missense_P424Q exm137131 1 201289411 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_D417N,Missense_D438N exm137136 1 201289495 [T/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_R445C,Missense_R466C exm137138 1 201289498 [T/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_C446R,Missense_C467R exm137149 1 201291196 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_A480T,Missense_A501T exm2232237 1 201291197 [T/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_A480V,Missense_A501V exm137151 1 201291209 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_Y484C,Missense_Y505C rs1772833 1 201291551 [A/G] NM_001005337,NM_000299 PKP1,PKP1 Silent,Silent exm137159 1 201292195 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_G520S,Missense_G541S exm137160 1 201292223 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_R529H,Missense_R550H rs10920173 1 201292473 [T/G] NM_001005337,NM_000299 PKP1,PKP1 Silent,Silent rs1543805 1 201292794 [A/G] NM_001005337,NM_000299 PKP1,PKP1 Silent,Silent exm137164 1 201293617 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_R581H,Missense_R602H exm137177 1 201294129 [A/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_N632T,Missense_N653T exm137183 1 201294893 [A/T] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_K678M,Missense_K699M exm137184 1 201294910 [T/C] NM_001005337,NM_000299 PKP1,PKP1 EXON Missense_R684W,Missense_R705W exm2273345 1 201299263 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Silent,Silent rs1105331 1 201299852 [A/G] NM_001005337,NM_000299 PKP1,PKP1 EXON Silent,Silent rs12126907 1 201312033 [A/G] rs7540834 1 201325462 [T/C] rs2275864 1 201328095 [A/G] exm137198 1 201328373 [A/G] NM_001276347,NM_001276346,NM_001276345,NM_001001431,NM_000364,NM_001001430,NM_001001432 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_R278C,Missense_R245C,Missense_R288C,Missense_R275C,Missense_R285C,Missense_R278C,Missense_R272C exm137208 1 201330429 [T/C] NM_001276347,NM_001276346,NM_001276345,NM_001001431,NM_000364,NM_001001430,NM_001001432 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_K253R,Missense_K220R,Missense_K263R,Missense_K250R,Missense_K260R,Missense_K253R,Missense_K247R exm137211 1 201330455 [A/C] NM_001276347,NM_001276346,NM_001276345,NM_001001431,NM_000364,NM_001001430,NM_001001432 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_E244D,Missense_E211D,Missense_E254D,Missense_E241D,Missense_E251D,Missense_E244D,Missense_E238D exm137215 1 201331068 [A/G] NM_001276347,NM_001276346,NM_001276345,NM_001001431,NM_000364,NM_001001430,NM_001001432 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_I221T,Missense_I188T,Missense_I231T,Missense_I218T,Missense_I228T,Missense_I221T,Missense_I215T exm137216 1 201331147 [T/C] NM_001276347,NM_001276346,NM_001276345,NM_001001431,NM_000364,NM_001001430,NM_001001432 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_E195K,Missense_E162K,Missense_E205K,Missense_E192K,Missense_E202K,Missense_E195K,Missense_E189K variant.9302 1 201331523 [T/C] NM_001276347,NM_001276346,NM_001276345,NM_001001431,NM_000364,NM_001001430,NM_001001432 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.9303 1 201332519 [A/G] NM_001276347,NM_001276346,NM_001276345,NM_001001431,NM_000364,NM_001001430,NM_001001432 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Nonsense_R159X,Nonsense_R129X,Nonsense_R169X,Nonsense_R159X,Nonsense_R169X,Nonsense_R159X,Nonsense_R154X rs3729547 1 201334382 [A/G] NM_001276347,NM_001276346,NM_001276345,NM_001001431,NM_000364,NM_001001430,NM_001001432 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Synonymous_I106I,Silent,Synonymous_I116I,Synonymous_I106I,Synonymous_I116I,Synonymous_I106I,Synonymous_I101I exm137240 1 201335991 [T/C] NM_001276347,NM_001276346,NM_001276345,NM_001001431,NM_000364,NM_001001430,NM_001001432 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_M60V,Missense_M69V,Missense_M70V,Missense_M60V,Missense_M70V,Missense_M60V,Missense_M55V exm137246 1 201337340 [A/G] NM_001276347,NM_001276346,NM_001276345,NM_001001431,NM_000364,NM_001001430,NM_001001432 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_A28V,Missense_A38V,Missense_A38V,Missense_A28V,Missense_A38V,Missense_A28V,Missense_A23V rs6427901 1 201340813 [A/G] NM_001276347,NM_001276346,NM_001276345,NM_001001431,NM_000364,NM_001001430,NM_001001432 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2996494 1 201343638 [A/G] NM_001276347,NM_001276346,NM_001276345,NM_001001431,NM_000364,NM_001001430,NM_001001432 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs947485 1 201345352 [A/G] NM_001276347,NM_001276346,NM_001276345,NM_001001431,NM_000364,NM_001001430,NM_001001432 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12564445 1 201345487 [A/G] NM_001276347,NM_001276346,NM_001276345,NM_001001431,NM_000364,NM_001001430,NM_001001432 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2799691 1 201348343 [T/C] exm137286 1 201351385 [T/C] NM_005558 LAD1 EXON Missense_A515T exm137287 1 201351421 [A/T] NM_005558 LAD1 EXON Missense_T503S exm137288 1 201351423 [A/C] NM_005558 LAD1 EXON Missense_R502M exm137289 1 201351433 [T/C] NM_005558 LAD1 EXON Missense_A499T exm1746205 1 201351787 [T/G] NM_005558 LAD1 EXON Missense_D489E exm137291 1 201352206 [T/C] NM_005558 LAD1 EXON Missense_R461Q exm1746209 1 201352291 [T/C] NM_005558 LAD1 EXON Missense_V433M exm137305 1 201353941 [A/G] NM_005558 LAD1 EXON Missense_S385L indel.9310 1 201353944 [I/D] NM_005558 LAD1 EXON exm137311 1 201354891 [A/G] NM_005558 LAD1 EXON Missense_P357S exm137317 1 201355522 [T/C] NM_005558 LAD1 EXON Missense_K323E rs4128458 1 201355522 [T/C] NM_005558 LAD1 EXON Missense_K323E exm137318 1 201355556 [A/C] NM_005558 LAD1 EXON Missense_R311S exm137323 1 201355636 [T/C] NM_005558 LAD1 EXON Missense_T285A exm137325 1 201355653 [T/G] NM_005558 LAD1 EXON Missense_P279Q exm137326 1 201355669 [T/C] NM_005558 LAD1 EXON Missense_T274A exm137330 1 201355761 [A/G] NM_005558 LAD1 EXON Missense_L243P rs2799677 1 201355943 [T/C] NM_005558 LAD1 EXON Synonymous_K182K exm137346 1 201355995 [T/C] NM_005558 LAD1 EXON Missense_E165G exm137355 1 201356006 [A/C] NM_005558 LAD1 EXON Missense_L161F exm137376 1 201356059 [A/G] NM_005558 LAD1 EXON Missense_R144W exm137387 1 201356298 [T/C] NM_005558 LAD1 EXON Missense_S64N exm137388 1 201356301 [A/G] NM_005558 LAD1 EXON Missense_P63L exm137390 1 201358304 [A/C] NM_005558 LAD1 EXON Missense_A56S exm2232238 1 201358367 [A/G] NM_005558 LAD1 EXON Missense_R35C rs2799680 1 201374677 [A/C] NM_003281 TNNI1 EXON Silent variant.9315 1 201380485 [T/C] NM_003281 TNNI1 EXON Synonymous_K152K exm137423 1 201382228 [T/C] NM_003281 TNNI1 EXON Missense_A71T rs2026594 1 201383643 [A/C] NM_003281 TNNI1 Silent exm137435 1 201383725 [T/C] NM_003281 TNNI1 EXON Missense_R37H rs1819291 1 201385061 [T/C] NM_003281 TNNI1 Silent exm2250477 1 201386916 [T/C] NM_003281 TNNI1 EXON Synonymous_P2P rs10800777 1 201400088 [T/G] rs6697016 1 201407782 [T/G] rs10494830 1 201415592 [A/G] rs7525711 1 201419375 [A/G] rs10920205 1 201422201 [A/G] rs12090950 1 201429381 [A/G] exm137458 1 201437557 [A/G] NM_012396,NR_073080 PHLDA3,PHLDA3 EXON Missense_L120F,Silent exm1746274 1 201437568 [A/G] NM_012396,NR_073080 PHLDA3,PHLDA3 EXON Missense_A116V,Silent exm137465 1 201437730 [T/C] NM_012396,NR_073080 PHLDA3,PHLDA3 EXON Missense_E62G,Silent exm137466 1 201437737 [A/C] NM_012396,NR_073080 PHLDA3,PHLDA3 EXON Missense_A60S,Silent exm137470 1 201437832 [T/C] NM_012396,NR_073080 PHLDA3,PHLDA3 EXON Missense_R28Q,Silent rs654072 1 201439473 [A/G] rs3753993 1 201440012 [T/C] rs1256929 1 201441734 [A/G] exm137476 1 201453861 [A/C] NM_004078,NM_001193570,NM_001193571,NM_001193572 CSRP1,CSRP1,CSRP1,CSRP1 EXON Missense_A188S,Missense_A182S,Missense_A188S,Missense_A188S exm137490 1 201458062 [A/T] NM_004078,NM_001193570,NM_001193571,NM_001193572 CSRP1,CSRP1,CSRP1,CSRP1 EXON Missense_Q111L,Missense_Q111L,Missense_Q111L,Missense_Q111L exm137491 1 201458071 [A/T] NM_004078,NM_001193570,NM_001193571,NM_001193572 CSRP1,CSRP1,CSRP1,CSRP1 EXON Missense_K108I,Missense_K108I,Missense_K108I,Missense_K108I rs12134525 1 201458214 [T/C] NM_004078,NM_001193570,NM_001193571,NM_001193572 CSRP1,CSRP1,CSRP1,CSRP1 Silent,Silent,Silent,Silent rs495886 1 201461809 [A/G] NM_004078,NM_001193570,NM_001193571,NM_001193572 CSRP1,CSRP1,CSRP1,CSRP1 Silent,Silent,Silent,Silent variant.9323 1 201465320 [T/C] NM_004078,NM_001193570,NM_001193571,NM_001193572 CSRP1,CSRP1,CSRP1,CSRP1 EXON Missense_M38V,Missense_M38V,Missense_M38V,Missense_M38V exm137512 1 201465350 [T/C] NM_004078,NM_001193570,NM_001193571,NM_001193572 CSRP1,CSRP1,CSRP1,CSRP1 EXON Missense_N28D,Missense_N28D,Missense_N28D,Missense_N28D newrs142986141 1 201465361 [T/G] NM_004078,NM_001193570,NM_001193571,NM_001193572 CSRP1,CSRP1,CSRP1,CSRP1 EXON Missense_Q24P,Missense_Q24P,Missense_Q24P,Missense_Q24P rs2210733 1 201474400 [A/G] NM_004078,NM_001193570,NM_001193571 CSRP1,CSRP1,CSRP1 Silent,Silent,Silent rs2038972 1 201475727 [A/C] NM_004078,NM_001193570,NM_001193571 CSRP1,CSRP1,CSRP1 Silent,Silent,Silent exm-rs10800786 1 201480660 [A/G] rs12728629 1 201486564 [T/C] rs4915537 1 201500825 [T/C] rs11577209 1 201517349 [A/G] rs654897 1 201530119 [T/C] rs2205595 1 201540509 [T/C] rs11583215 1 201545999 [T/G] rs544127 1 201550615 [T/G] rs608356 1 201560163 [A/G] rs545372 1 201561620 [T/C] rs609391 1 201564909 [T/C] rs621662 1 201571927 [T/C] rs1555936 1 201586129 [T/C] rs679352 1 201603081 [T/G] rs10920222 1 201605716 [A/C] rs631225 1 201607272 [T/C] rs7364578 1 201616627 [A/G] rs1736450 1 201616835 [T/C] exm137528 1 201618040 [A/G] NM_020443 NAV1 EXON Missense_A82T exm137545 1 201618395 [A/G] NM_020443 NAV1 EXON Missense_D200G exm137552 1 201618546 [G/C] NM_020443 NAV1 EXON Missense_Q250H rs967392 1 201623215 [A/C] NM_020443 NAV1 Silent rs664896 1 201628990 [T/C] NM_020443 NAV1 Silent rs12045814 1 201636724 [A/G] NM_020443 NAV1 Silent rs525492 1 201638858 [A/G] NM_020443 NAV1 Silent rs10800790 1 201644752 [A/G] NM_020443 NAV1 Silent rs3000763 1 201651484 [T/C] NM_020443 NAV1 Silent rs602668 1 201657709 [T/C] NM_020443,NR_046696 NAV1,IPO9-AS1 Silent,Silent rs1317704 1 201661705 [A/G] NM_020443,NR_046696 NAV1,IPO9-AS1 Silent,Silent rs606114 1 201664101 [T/C] NM_020443,NR_046696 NAV1,IPO9-AS1 Silent,Silent rs675141 1 201680451 [A/G] NM_020443,NR_046696 NAV1,IPO9-AS1 Silent,Silent rs10920236 1 201684221 [A/G] NM_020443,NR_046696 NAV1,IPO9-AS1 Silent,Silent rs239967 1 201692871 [A/G] NM_020443,NR_046696 NAV1,IPO9-AS1 Silent,Silent rs239995 1 201699395 [T/C] NM_020443,NR_046696 NAV1,IPO9-AS1 Silent,Silent rs4950838 1 201705650 [T/C] NM_020443,NR_046696 NAV1,IPO9-AS1 Silent,Silent rs12026046 1 201708422 [A/G] NM_020443,NR_046696 NAV1,IPO9-AS1 Silent,Silent rs4950846 1 201711704 [A/G] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 Silent,Silent,Silent rs650720 1 201749156 [T/G] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 Silent,Silent,Silent exm137583 1 201750162 [A/G] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_R463H,Silent,Missense_R72H exm137585 1 201750233 [A/G] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_D487N,Silent,Missense_D96N exm137586 1 201750237 [A/G] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_S488N,Silent,Missense_S97N exm2250479 1 201751518 [G/C] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Synonymous_A626A,Silent,Synonymous_A235A exm137612 1 201751772 [T/C] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_T711M,Silent,Missense_T320M exm137632 1 201752932 [T/C] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_T919M,Silent,Missense_T528M exm137639 1 201754444 [C/G] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_Q937H,Silent,Missense_Q546H exm137645 1 201755636 [A/C] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_Q976K,Silent,Missense_Q585K exm137647 1 201755657 [A/C] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_P983T,Silent,Missense_P592T exm137654 1 201757758 [T/C] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_T1053M,Silent,Missense_T662M exm137658 1 201759701 [A/C] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_S1080Y,Silent,Missense_S689Y rs481530 1 201763912 [T/C] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 Silent,Silent,Silent rs2678209 1 201770929 [A/G] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 Silent,Silent,Silent exm2264944 1 201775746 [A/G] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 Silent,Silent,Silent rs4379719 1 201775746 [A/G] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 Silent,Silent,Silent exm137678 1 201777136 [T/C] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_S1235F,Silent,Missense_S841F exm137682 1 201777250 [T/C] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_S1273L,Silent,Missense_S879L exm137684 1 201777553 [A/G] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_A1285T,Silent,Missense_A891T exm1746322 1 201777556 [A/C] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_H1286N,Silent,Missense_H892N exm137685 1 201777568 [G/C] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_H1290D,Silent,Missense_H896D exm137709 1 201778370 [T/C] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_P1429L,Silent,Missense_P1035L exm137710 1 201778384 [A/C] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_K1434Q,Silent,Missense_K1040Q exm137718 1 201779131 [T/C] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_H1487Y,Silent,Missense_H1093Y exm137726 1 201779668 [A/G] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_V1527I,Silent,Missense_V1133I exm137740 1 201780786 [T/C] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_I1618T,Silent,Missense_I1224T exm137750 1 201786220 [A/G] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_H1782R,Silent,Missense_H1388R exm137754 1 201786330 [A/G] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Missense_V1819M,Silent,Missense_V1425M exm137756 1 201786413 [C/G] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Synonymous_L1846L,Silent,Synonymous_L1452L rs1022361 1 201790270 [A/G] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Silent,Silent,Silent rs1032524 1 201790826 [T/C] NM_020443,NR_046696,NM_001167738 NAV1,IPO9-AS1,NAV1 EXON Silent,Silent,Silent rs10920260 1 201800582 [T/G] NM_018085 IPO9 Silent rs2820295 1 201800868 [A/G] NM_018085 IPO9 Silent rs12562614 1 201814994 [A/G] NM_018085 IPO9 Silent exm137791 1 201824937 [A/G] NM_018085 IPO9 EXON Missense_V333I exm137798 1 201827623 [C/G] NM_018085 IPO9 EXON Missense_A424P exm1746379 1 201839932 [T/G] NM_018085 IPO9 EXON Missense_I785M rs950114 1 201840210 [T/C] NM_018085 IPO9 Silent exm137844 1 201843378 [A/G] NM_018085 IPO9 EXON Missense_N904S exm137851 1 201843969 [A/G] NM_018085 IPO9 EXON Missense_N948S exm137868 1 201858713 [A/G] NR_030775,NM_198149 SHISA4,SHISA4 EXON Silent,Missense_E72K exm137881 1 201860626 [A/G] NR_030775,NM_198149 SHISA4,SHISA4 EXON Silent,Missense_I159M exm137883 1 201860679 [T/C] NR_030775,NM_198149 SHISA4,SHISA4 EXON Silent,Missense_P177L exm137886 1 201860930 [T/C] NR_030775,NM_198149 SHISA4,SHISA4 EXON Silent,Missense_P184S exm2273346 1 201861016 [G/C] NR_030775,NM_198149 SHISA4,SHISA4 EXON Silent,Silent rs8028 1 201865763 [A/G] NM_012134 LMOD1 EXON Silent exm137892 1 201868510 [T/G] NM_012134 LMOD1 EXON Missense_P544H exm2232248 1 201868555 [T/C] NM_012134 LMOD1 EXON Missense_G529D exm137899 1 201868637 [T/C] NM_012134 LMOD1 EXON Missense_G502R exm2250480 1 201868842 [C/G] NM_012134 LMOD1 EXON Synonymous_T433T exm137905 1 201869027 [T/C] NM_012134 LMOD1 EXON Missense_D372N exm137916 1 201869257 [A/G] NM_012134 LMOD1 EXON Missense_T295M exm137923 1 201869461 [T/C] NM_012134 LMOD1 EXON Missense_R227H exm137924 1 201869484 [A/C] NM_012134 LMOD1 EXON Missense_D219E exm137925 1 201869489 [T/C] NM_012134 LMOD1 EXON Missense_E218K exm137934 1 201869716 [T/C] NM_012134 LMOD1 EXON Missense_G142D rs2819348 1 201884952 [T/C] NM_012134 LMOD1 Silent rs2047264 1 201886402 [A/G] NM_012134 LMOD1 Silent rs1390398 1 201891254 [A/C] NM_012134 LMOD1 Silent rs16849442 1 201892257 [A/G] NM_012134 LMOD1 Silent rs2820327 1 201904589 [T/C] NM_012134 LMOD1 Silent exm137942 1 201915259 [C/G] NM_012134 LMOD1 EXON Missense_N70K exm137945 1 201915294 [A/G] NM_012134 LMOD1 EXON Missense_S59P exm137947 1 201915330 [A/C] NM_012134 LMOD1 EXON Missense_V47L exm137949 1 201915336 [T/C] NM_012134 LMOD1 EXON Missense_V45I rs2820304 1 201918527 [T/G] exm137966 1 201926422 [A/G] NM_006335 TIMM17A EXON Missense_V14M rs2819376 1 201931219 [A/C] NM_006335 TIMM17A Silent exm137983 1 201934578 [A/G] NM_006335 TIMM17A EXON Missense_V113I exm137985 1 201934590 [A/G] NM_006335 TIMM17A EXON Missense_A117T rs12090635 1 201936324 [A/G] NM_006335 TIMM17A Silent exm137989 1 201938669 [A/G] NM_006335 TIMM17A EXON Missense_R168Q rs7513 1 201938995 [T/C] NM_006335 TIMM17A EXON Silent rs4950806 1 201952574 [T/C] NM_020216,NM_001319184,NM_001319183,NM_001319182 RNPEP,RNPEP,RNPEP,RNPEP EXON Silent,Silent,Silent,Silent rs6689324 1 201954697 [T/C] NM_020216,NM_001319184,NM_001319183,NM_001319182 RNPEP,RNPEP,RNPEP,RNPEP Silent,Silent,Silent,Silent rs6689634 1 201954987 [T/C] NM_020216,NM_001319184,NM_001319183,NM_001319182 RNPEP,RNPEP,RNPEP,RNPEP Silent,Silent,Silent,Silent exm138002 1 201958031 [C/G] NM_020216,NM_001319184,NM_001319183,NM_001319182 RNPEP,RNPEP,RNPEP,RNPEP Silent,Silent,Silent,Silent indel.9335 1 201958121 [D/I] NM_020216,NM_001319184,NM_001319183,NM_001319182 RNPEP,RNPEP,RNPEP,RNPEP EXON exm138012 1 201958607 [T/C] NM_020216,NM_001319184,NM_001319183,NM_001319182 RNPEP,RNPEP,RNPEP,RNPEP EXON Missense_Y229H,Silent,Silent,Missense_Y98H rs16849483 1 201959455 [T/G] NM_020216,NM_001319184,NM_001319183,NM_001319182 RNPEP,RNPEP,RNPEP,RNPEP Silent,Silent,Silent,Silent rs12734984 1 201959490 [T/C] NM_020216,NM_001319184,NM_001319183,NM_001319182 RNPEP,RNPEP,RNPEP,RNPEP Silent,Silent,Silent,Silent exm138018 1 201965317 [T/G] NM_020216,NM_001319184,NM_001319183,NM_001319182 RNPEP,RNPEP,RNPEP,RNPEP EXON Missense_K260N,Silent,Silent,Missense_K129N newrs142043234 1 201965321 [T/G] NM_020216,NM_001319184,NM_001319183,NM_001319182 RNPEP,RNPEP,RNPEP,RNPEP EXON Nonsense_E262X,Silent,Silent,Nonsense_E131X exm138022 1 201965336 [A/G] NM_020216,NM_001319184,NM_001319183,NM_001319182 RNPEP,RNPEP,RNPEP,RNPEP EXON Missense_I267V,Silent,Silent,Missense_I136V variant.9338 1 201965342 [T/G] NM_020216,NM_001319184,NM_001319183,NM_001319182 RNPEP,RNPEP,RNPEP,RNPEP EXON Nonsense_E269X,Silent,Silent,Nonsense_E138X exm138024 1 201965367 [T/C] NM_020216,NM_001319184,NM_001319183,NM_001319182 RNPEP,RNPEP,RNPEP,RNPEP EXON Missense_L277P,Silent,Silent,Missense_L146P exm138030 1 201966541 [T/C] NM_020216,NM_001319184,NM_001319183,NM_001319182 RNPEP,RNPEP,RNPEP,RNPEP EXON Missense_R317C,Missense_R27C,Missense_R27C,Missense_R186C exm138031 1 201966542 [A/G] NM_020216,NM_001319184,NM_001319183,NM_001319182 RNPEP,RNPEP,RNPEP,RNPEP EXON Missense_R317H,Missense_R27H,Missense_R27H,Missense_R186H exm138033 1 201966638 [T/G] NM_020216,NM_001319184,NM_001319183,NM_001319182 RNPEP,RNPEP,RNPEP,RNPEP EXON Missense_G349V,Missense_G59V,Missense_G59V,Missense_G218V exm138035 1 201966652 [A/G] NM_020216,NM_001319184,NM_001319183,NM_001319182 RNPEP,RNPEP,RNPEP,RNPEP EXON Missense_A354T,Missense_A64T,Missense_A64T,Missense_A223T exm138048 1 201970505 [T/C] NM_020216,NM_001319184,NM_001319183,NM_001319182,NR_146472 RNPEP,RNPEP,RNPEP,RNPEP,ELF3-AS1 EXON Synonymous_G402G,Synonymous_G112G,Synonymous_G112G,Synonymous_G271G,Silent exm138051 1 201970542 [A/G] NM_020216,NM_001319184,NM_001319183,NM_001319182,NR_146472 RNPEP,RNPEP,RNPEP,RNPEP,ELF3-AS1 EXON Missense_E415K,Missense_E125K,Missense_E125K,Missense_E284K,Silent rs4131469 1 201970748 [A/G] NM_020216,NM_001319184,NM_001319183,NM_001319182,NR_146472 RNPEP,RNPEP,RNPEP,RNPEP,ELF3-AS1 Silent,Silent,Silent,Silent,Silent exm138055 1 201970787 [C/G] NM_020216,NM_001319184,NM_001319183,NM_001319182,NR_146472 RNPEP,RNPEP,RNPEP,RNPEP,ELF3-AS1 EXON Missense_A440P,Missense_A150P,Missense_A150P,Missense_A309P,Silent variant.9339 1 201970811 [T/C] NM_020216,NM_001319184,NM_001319183,NM_001319182,NR_146472 RNPEP,RNPEP,RNPEP,RNPEP,ELF3-AS1 EXON Nonsense_R448X,Nonsense_R158X,Nonsense_R158X,Nonsense_R317X,Silent exm138057 1 201970817 [A/G] NM_020216,NM_001319184,NM_001319183,NM_001319182,NR_146472 RNPEP,RNPEP,RNPEP,RNPEP,ELF3-AS1 EXON Missense_I450V,Missense_I160V,Missense_I160V,Missense_I319V,Silent indel.9340 1 201970875 [D/I] NM_020216,NM_001319184,NM_001319183,NM_001319182,NR_146472 RNPEP,RNPEP,RNPEP,RNPEP,ELF3-AS1 EXON newrs149489527 1 201972364 [T/G] NM_020216,NM_001319184,NM_001319183,NM_001319182,NR_146472,NR_106798 RNPEP,RNPEP,RNPEP,RNPEP,ELF3-AS1,MIR6740 EXON Silent,Silent,Silent,Silent,Silent,Silent exm138066 1 201972448 [C/G] NM_020216,NM_001319184,NM_001319183,NM_001319182,NR_146472 RNPEP,RNPEP,RNPEP,RNPEP,ELF3-AS1 EXON Missense_P504A,Missense_P214A,Missense_P214A,Missense_P373A,Silent exm138067 1 201972494 [T/C] NM_020216,NM_001319184,NM_001319183,NM_001319182,NR_146472 RNPEP,RNPEP,RNPEP,RNPEP,ELF3-AS1 EXON Missense_M519T,Missense_M229T,Missense_M229T,Missense_M388T,Silent rs3820439 1 201973565 [A/G] NM_020216,NM_001319184,NM_001319183,NM_001319182,NR_146472 RNPEP,RNPEP,RNPEP,RNPEP,ELF3-AS1 EXON Missense_V579I,Missense_V289I,Missense_V289I,Missense_V448I,Silent exm138075 1 201973565 [A/G] NM_020216,NM_001319184,NM_001319183,NM_001319182,NR_146472 RNPEP,RNPEP,RNPEP,RNPEP,ELF3-AS1 EXON Missense_V579I,Missense_V289I,Missense_V289I,Missense_V448I,Silent exm138088 1 201980277 [T/C] NM_004433,NM_001114309 ELF3,ELF3 EXON Missense_C5R,Missense_C5R exm138099 1 201981129 [A/G] NM_004433,NM_001114309 ELF3,ELF3 EXON Missense_T70A,Missense_T70A exm138100 1 201981130 [T/C] NM_004433,NM_001114309 ELF3,ELF3 EXON Missense_T70M,Missense_T70M exm138103 1 201981189 [A/G] NM_004433,NM_001114309 ELF3,ELF3 EXON Missense_I90V,Missense_I90V exm138110 1 201981298 [A/G] NM_004433,NM_001114309 ELF3,ELF3 EXON Missense_R126Q,Missense_R126Q exm138115 1 201981472 [T/C] NM_004433,NM_001114309 ELF3,ELF3 EXON Missense_T129I,Missense_T129I exm138120 1 201981774 [A/G] NM_004433,NM_001114309 ELF3,ELF3 EXON Missense_G162D,Missense_G162D exm138128 1 201981848 [A/G] NM_004433,NM_001114309 ELF3,ELF3 EXON Missense_G187R,Missense_G187R rs2819362 1 201981862 [T/C] NM_004433,NM_001114309 ELF3,ELF3 EXON Synonymous_P191P,Synonymous_P191P exm138137 1 201982163 [T/C] NM_004433,NM_001114309 ELF3,ELF3 EXON Synonymous_S229S,Synonymous_S229S exm138149 1 201982958 [A/G] NM_004433,NM_001114309 ELF3,ELF3 EXON Synonymous_A269A,Synonymous_A269A exm138151 1 201983055 [A/G] NM_004433,NM_001114309 ELF3,ELF3 EXON Missense_V302I,Missense_V302I rs12756809 1 201986418 [A/C] rs4950760 1 201995426 [T/C] rs10920308 1 201996215 [A/C] rs12731187 1 202013757 [T/C] rs10920315 1 202027170 [T/C] rs9427477 1 202032235 [T/G] exm2268814 1 202034271 [T/C] rs9427727 1 202038945 [T/C] rs12724599 1 202045541 [T/C] rs9427478 1 202045985 [T/G] rs7535074 1 202052416 [T/C] rs10800813 1 202055955 [T/C] rs4576706 1 202066564 [A/G] rs4950826 1 202077927 [A/C] rs4245703 1 202078075 [T/C] rs12745308 1 202079202 [A/G] exm2263868 1 202081212 [A/C] rs4436441 1 202087936 [A/C] exm138176 1 202092293 [T/C] NM_004767 GPR37L1 EXON Missense_P68S exm138181 1 202092360 [A/G] NM_004767 GPR37L1 EXON Missense_G90D exm138195 1 202092674 [G/C] NM_004767 GPR37L1 EXON Missense_Q195E rs6701064 1 202093735 [T/G] NM_004767 GPR37L1 Silent rs4950769 1 202094593 [A/G] NM_004767 GPR37L1 Silent rs4376792 1 202095590 [T/C] NM_004767 GPR37L1 Silent exm138214 1 202097239 [A/G] NM_004767 GPR37L1 EXON Missense_R334Q exm138242 1 202097559 [A/G] NM_004767 GPR37L1 EXON Missense_G441R exm138243 1 202097580 [A/G] NM_004767 GPR37L1 EXON Missense_A448T exm2250482 1 202104282 [A/G] NM_138795,NM_001256129 ARL8A,ARL8A EXON Synonymous_N169N,Missense_H147Y rs16849710 1 202106797 [A/G] NM_138795,NM_001256129 ARL8A,ARL8A Silent,Silent rs4950830 1 202107627 [A/G] NM_138795,NM_001256129 ARL8A,ARL8A Silent,Silent rs9077 1 202116238 [A/G] NM_001364877,NM_001364878,NM_002832,NM_080588,NR_037663,NM_001199797,NR_037664 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1746520 1 202119482 [T/C] NM_001364877,NM_001364878,NM_002832,NM_080588,NR_037663,NM_001199797,NR_037664 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Missense_E315K,Missense_E316K,Missense_E421K,Missense_E355K,Silent,Missense_E390K,Silent exm138278 1 202119514 [T/C] NM_001364877,NM_001364878,NM_002832,NM_080588,NR_037663,NM_001199797,NR_037664 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Missense_R304Q,Missense_R305Q,Missense_R410Q,Missense_R344Q,Silent,Missense_R379Q,Silent exm138279 1 202119515 [A/G] NM_001364877,NM_001364878,NM_002832,NM_080588,NR_037663,NM_001199797,NR_037664 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Nonsense_R304X,Nonsense_R305X,Nonsense_R410X,Nonsense_R344X,Silent,Nonsense_R379X,Silent rs10920337 1 202121643 [A/G] NM_001364877,NM_001364878,NM_002832,NM_080588,NR_037663,NM_001199797,NR_037664 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm138286 1 202121683 [T/C] NM_001364877,NM_001364878,NM_002832,NM_080588,NR_037663,NM_001199797,NR_037664 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Missense_V287I,Missense_V288I,Missense_V393I,Missense_V327I,Silent,Missense_V362I,Silent exm138293 1 202121815 [A/G] NM_001364877,NM_001364878,NM_002832,NM_080588,NR_037663,NM_001199797,NR_037664 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Missense_R243C,Missense_R244C,Missense_R349C,Missense_R283C,Silent,Missense_R318C,Silent exm138299 1 202122865 [G/C] NM_001364877,NM_001364878,NM_002832,NM_080588,NR_037663,NM_001199797,NR_037664 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Missense_Q234H,Missense_Q235H,Missense_Q340H,Missense_Q274H,Silent,Missense_Q309H,Silent exm138302 1 202122956 [A/C] NM_001364877,NM_001364878,NM_002832,NM_080588,NR_037663,NM_001199797,NR_037664 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Missense_V204G,Missense_V205G,Missense_V310G,Missense_V244G,Silent,Missense_V279G,Silent exm138309 1 202124711 [A/G] NM_001364877,NM_001364878,NM_002832,NM_080588,NR_037663,NM_001199797,NR_037664 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Missense_R139W,Missense_R140W,Missense_R245W,Missense_R179W,Silent,Missense_R214W,Silent exm138317 1 202127295 [A/G] NM_001364877,NM_001364878,NM_002832,NM_080588,NR_037663,NM_001199797,NR_037664 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Missense_A86V,Missense_A86V,Missense_A191V,Missense_A125V,Silent,Missense_A160V,Silent variant.9356 1 202127432 [A/G] NM_001364877,NM_001364878,NM_002832,NM_080588,NR_037663,NM_001199797,NR_037664 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm138325 1 202128421 [T/C] NM_001364877,NM_001364878,NM_002832,NM_080588,NR_037663,NM_001199797,NR_037664 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Missense_R37Q,Missense_R37Q,Missense_R142Q,Missense_R76Q,Silent,Missense_R111Q,Silent exm2276852 1 202128422 [A/G] NM_001364877,NM_001364878,NM_002832,NM_080588,NR_037663,NM_001199797,NR_037664 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Nonsense_R37X,Nonsense_R37X,Nonsense_R142X,Nonsense_R76X,Silent,Nonsense_R111X,Silent exm2273735 1 202128454 [A/G] NM_001364877,NM_001364878,NM_002832,NM_080588,NR_037663,NM_001199797,NR_037664 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Missense_P26L,Missense_P26L,Missense_P131L,Missense_P65L,Silent,Missense_P100L,Silent exm138333 1 202128508 [T/C] NM_001364877,NM_001364878,NM_002832,NM_080588,NR_037663,NM_001199797,NR_037664 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Missense_R8H,Missense_R8H,Missense_R113H,Missense_R47H,Silent,Missense_R82H,Silent exm138344 1 202128601 [T/C] NM_001364877,NM_002832,NM_080588,NR_037663,NM_001199797,NR_037664 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Missense_R16Q,Silent,Silent,Silent exm138358 1 202129895 [A/G] NM_001364877,NM_002832,NR_037663,NM_001199797,NR_037664 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Missense_T14M,Silent,Silent,Silent rs3934648 1 202130754 [T/C] rs6660999 1 202131108 [A/G] rs12737056 1 202132777 [T/G] rs3935008 1 202138239 [T/C] NR_002930 PTPRVP Silent rs10800821 1 202146014 [T/C] NR_002930 PTPRVP Silent rs10920357 1 202151566 [A/G] NR_002930 PTPRVP Silent rs10920358 1 202152129 [T/C] NR_002930 PTPRVP Silent rs2993446 1 202161644 [T/C] rs10920360 1 202172594 [T/C] NM_001017403 LGR6 Silent exm138386 1 202172988 [T/A] NM_001017403,NM_021636 LGR6,LGR6 EXON Silent,Missense_I14K exm-IND1-200449980 1 202183358 [D/I] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON rs10920364 1 202186178 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent rs10920365 1 202189711 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent rs2993433 1 202190742 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent rs2993437 1 202193981 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent exm2250483 1 202197082 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Synonymous_H101H,Synonymous_H49H,Synonymous_H58H rs10920369 1 202203337 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent exm138409 1 202205084 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_A131T,Missense_A79T,Missense_A88T rs3010077 1 202228042 [A/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent rs2993444 1 202239771 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent exm138420 1 202245498 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_R165C,Missense_R113C,Silent exm138425 1 202245595 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_R197H,Missense_R145H,Silent exm138426 1 202245609 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_P202S,Missense_P150S,Silent rs788827 1 202266547 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent rs788826 1 202266607 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent exm1746588 1 202270005 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_I272V,Missense_I220V,Missense_I133V variant.9362 1 202270290 [A/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent exm138444 1 202272454 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_G326D,Missense_G274D,Missense_G187D exm138448 1 202273698 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_R337H,Missense_R285H,Missense_R198H exm138450 1 202273729 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_M347I,Missense_M295I,Missense_M208I exm138455 1 202276012 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_R385C,Missense_R333C,Missense_R246C exm138457 1 202276045 [A/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_Q396K,Missense_Q344K,Missense_Q257K exm138478 1 202279464 [T/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_A516S,Missense_A464S,Missense_A377S exm138480 1 202279484 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Synonymous_H522H,Synonymous_H470H,Synonymous_H383H rs705766 1 202279709 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent exm138484 1 202287118 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_G563S,Missense_G511S,Missense_G424S exm138487 1 202287139 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_A570T,Missense_A518T,Missense_A431T exm1746619 1 202287250 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_A607T,Missense_A555T,Missense_A468T exm138504 1 202287358 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_R643W,Missense_R591W,Missense_R504W exm2232259 1 202287634 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_A735T,Missense_A683T,Missense_A596T exm138528 1 202287707 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_P759L,Missense_P707L,Missense_P620L exm138533 1 202287739 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_A770T,Missense_A718T,Missense_A631T exm138535 1 202287754 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_V775M,Missense_V723M,Missense_V636M exm138539 1 202287818 [C/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_S796C,Missense_S744C,Missense_S657C exm138547 1 202287964 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_A845T,Missense_A793T,Missense_A706T exm138553 1 202288000 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_G857R,Missense_G805R,Missense_G718R exm138559 1 202288063 [C/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_L878V,Missense_L826V,Missense_L739V exm138560 1 202288090 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_R887W,Missense_R835W,Missense_R748W exm138561 1 202288091 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_R887Q,Missense_R835Q,Missense_R748Q exm138568 1 202288189 [A/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_P920T,Missense_P868T,Missense_P781T exm138574 1 202288294 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_G955S,Missense_G903S,Missense_G816S rs705731 1 202298894 [T/C] rs4079028 1 202299085 [T/C] rs35873832 1 202300127 [T/G] variant.9368 1 202301004 [A/G] NM_014176,NM_001310326 UBE2T,UBE2T EXON Nonsense_Q185X,Nonsense_Q155X newrs149154798 1 202302658 [A/G] NM_014176,NM_001310326 UBE2T,UBE2T EXON Nonsense_R69X,Nonsense_R39X exm138597 1 202304124 [G/C] NM_014176,NM_001310326 UBE2T,UBE2T EXON Missense_P58A,Missense_P28A variant.9371 1 202304769 [T/C] NM_014176,NM_001310326 UBE2T,UBE2T Silent,Silent exm138601 1 202304777 [T/C] NM_014176,NM_001310326 UBE2T,UBE2T EXON Missense_A36T,Synonymous_E4E exm138602 1 202304812 [T/C] NM_014176,NM_001310326 UBE2T,UBE2T EXON Missense_C24Y,Silent exm138613 1 202318143 [A/G] NM_001167858,NM_002481,NM_001331029,NM_001167857 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_R55H,Missense_R55H,Missense_R55H,Missense_R55H kgp642972 1 202318316 [A/C] NM_001167858,NM_002481,NM_001331029,NM_001167857 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B Silent,Silent,Silent,Silent kgp10274587 1 202318750 [T/C] NM_001167858,NM_002481,NM_001331029,NM_001167857 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B Silent,Silent,Silent,Silent exm2232265 1 202385947 [T/G] NM_001167858,NM_002481,NM_001331029,NM_001167857 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_K108N,Missense_K108N,Missense_K108N,Missense_K108N exm138625 1 202391786 [A/G] NM_001167858,NM_002481,NM_001331029,NM_001167857 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_N154S,Missense_N154S,Missense_N154S,Missense_N154S exm138642 1 202398019 [A/G] NM_001167858,NM_002481,NM_001331029,NM_001167857 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_V295M,Missense_V295M,Missense_V295M,Missense_V295M exm2277017 1 202399880 [T/C] NM_001167858,NM_002481,NM_001331029,NM_001167857 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_R315W,Missense_R315W,Missense_R315W,Missense_R315W exm2250484 1 202403794 [A/G] NM_001167858,NM_002481,NM_001331029,NM_001167857 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Silent,Synonymous_P384P,Synonymous_P384P,Synonymous_P384P exm138651 1 202403808 [A/G] NM_001167858,NM_002481,NM_001331029,NM_001167857 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Silent,Missense_N389S,Missense_N389S,Missense_N389S exm138658 1 202403889 [T/C] NM_001167858,NM_002481,NM_001331029,NM_001167857 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Silent,Missense_A416V,Missense_A416V,Missense_A416V newrs145788822 1 202403897 [T/G] NM_001167858,NM_002481,NM_001331029,NM_001167857 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B Silent,Silent,Silent,Silent rs2741853 1 202405671 [A/G] NM_001167858,NM_002481,NM_001331029,NM_001167857 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B Silent,Silent,Silent,Silent exm138661 1 202406951 [A/C] NM_001167858,NM_002481,NM_001331029,NM_001167857 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_L382I,Missense_F419L,Missense_F419L,Missense_F419L exm138662 1 202406961 [G/C] NM_001167858,NM_002481,NM_001331029,NM_001167857 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_P385R,Missense_L423V,Missense_L423V,Missense_L423V exm138666 1 202407076 [A/T] NM_001167858,NM_002481,NM_001331029,NM_001167857 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Silent,Missense_I461K,Missense_I461K,Missense_I461K indel.9374 1 202407172 [D/I] NM_001167858,NM_002481,NM_001331029,NM_001167857 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON newrs112006906 1 202409841 [I/D] NM_002481,NM_001331029 PPP1R12B,PPP1R12B EXON exm138672 1 202409874 [A/G] NM_002481,NM_001331029 PPP1R12B,PPP1R12B EXON Missense_R500Q,Missense_R500Q exm138673 1 202409904 [A/G] NM_002481,NM_001331029 PPP1R12B,PPP1R12B EXON Missense_E510G,Missense_E510G variant.9376 1 202409921 [T/C] NM_002481,NM_001331029 PPP1R12B,PPP1R12B Silent,Silent exm138680 1 202411679 [A/G] NM_002481,NM_001331029 PPP1R12B,PPP1R12B EXON Missense_Y549C,Missense_Y549C rs2741855 1 202411738 [T/C] NM_002481,NM_001331029 PPP1R12B,PPP1R12B Silent,Silent exm1746688 1 202418139 [A/G] NM_002481,NM_001331029 PPP1R12B,PPP1R12B EXON Missense_D564N,Missense_D625N exm2232268 1 202418173 [A/C] NM_002481,NM_001331029 PPP1R12B,PPP1R12B EXON Missense_S575Y,Missense_S636Y exm138687 1 202457666 [A/G] NM_002481,NM_001331029,NM_032104,NM_032103 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_Y619C,Missense_Y680C,Silent,Silent rs705742 1 202461982 [A/G] NM_002481,NM_001331029,NM_032104,NM_032103 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B Silent,Silent,Silent,Silent exm138703 1 202464451 [T/C] NM_002481,NM_001331029,NM_032104,NM_032103 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Nonsense_Q726X,Nonsense_Q787X,Silent,Silent exm138714 1 202464773 [A/G] NM_002481,NM_001331029,NM_032104,NM_032103 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_R804Q,Missense_R865Q,Missense_R30Q,Missense_R30Q exm138725 1 202509362 [T/C] NM_002481,NM_001331029,NM_032104,NM_032103,NM_001197131 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Silent,Silent,Silent,Silent,Missense_T32M variant.9378 1 202531902 [A/G] NM_002481,NM_001331029,NM_032104,NM_032103,NM_001197131 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B Silent,Silent,Silent,Silent,Silent exm138734 1 202531968 [A/G] NM_002481,NM_001331029,NM_032104,NM_032103,NM_001197131 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_R857K,Missense_R918K,Missense_R83K,Missense_R83K,Missense_R61K variant.9379 1 202536906 [T/C] NM_002481,NM_001331029,NM_032104,NM_032103,NM_001197131 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Nonsense_Q920X,Nonsense_Q981X,Nonsense_Q146X,Nonsense_Q146X,Nonsense_Q124X exm138753 1 202538291 [A/T] NM_002481,NM_001331029,NM_032104,NM_032103,NM_001197131 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_E943V,Missense_E1004V,Missense_E169V,Missense_E169V,Missense_E147V exm138759 1 202544208 [T/C] NM_002481,NM_001331029,NM_032104,NM_032103,NM_001197131 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Silent,Silent,Nonsense_R207X,Silent,Silent exm138760 1 202544227 [T/C] NM_002481,NM_001331029,NM_032104,NM_032103,NM_001197131 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Silent,Silent,Missense_S213L,Silent,Silent rs1040010 1 202560412 [T/C] NM_001136504,NM_177402 SYT2,SYT2 EXON Silent,Silent rs12033827 1 202564040 [A/C] NM_001136504,NM_177402 SYT2,SYT2 EXON Silent,Silent rs9633344 1 202566200 [T/C] NM_001136504,NM_177402 SYT2,SYT2 Silent,Silent exm138772 1 202568417 [T/C] NM_001136504,NM_177402 SYT2,SYT2 EXON Missense_V328M,Missense_V328M rs585658 1 202573179 [T/C] NM_001136504,NM_177402 SYT2,SYT2 Silent,Silent exm138802 1 202573729 [T/C] NM_001136504,NM_177402 SYT2,SYT2 EXON Missense_A67T,Missense_A67T rs12409084 1 202602566 [A/C] NM_001136504,NM_177402 SYT2,SYT2 Silent,Silent rs12354333 1 202604386 [A/G] NM_001136504,NM_177402 SYT2,SYT2 Silent,Silent rs867316 1 202618202 [T/C] NM_177402 SYT2 Silent rs10737582 1 202623455 [A/G] NM_177402 SYT2 Silent rs4950866 1 202643007 [A/G] NM_177402 SYT2 Silent rs6698441 1 202652939 [T/C] NM_177402 SYT2 Silent rs4362037 1 202662356 [A/C] NM_177402 SYT2 Silent rs4364933 1 202675543 [A/G] NM_177402 SYT2 Silent rs7529811 1 202688077 [A/G] rs4950740 1 202695165 [A/G] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Silent,Silent,Silent exm138816 1 202698838 [T/A] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_D1498E,Missense_D1534E,Missense_D1453E exm138820 1 202698950 [T/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_R1461H,Missense_R1497H,Missense_R1416H exm138823 1 202698968 [T/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_R1455H,Missense_R1491H,Missense_R1410H variant.9382 1 202699056 [A/G] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Nonsense_R1426X,Nonsense_R1462X,Nonsense_R1381X exm138830 1 202700057 [T/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_V1386M,Missense_V1422M,Missense_V1341M exm138834 1 202700105 [A/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_L1370V,Missense_L1406V,Missense_L1325V exm138854 1 202702918 [T/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_V1174M,Missense_V1210M,Missense_V1129M exm138862 1 202704613 [G/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_E1123Q,Missense_E1159Q,Missense_E1078Q exm2250485 1 202705419 [T/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Synonymous_L1062L,Synonymous_L1098L,Synonymous_L1017L exm138872 1 202709846 [G/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_V1014L,Missense_V1050L,Missense_V969L exm1746799 1 202709895 [A/G] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Synonymous_I997I,Synonymous_I1033I,Synonymous_I952I variant.9383 1 202710495 [T/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_R982K,Missense_R1018K,Missense_R937K variant.9385 1 202710621 [T/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_R940H,Missense_R976H,Missense_R895H exm138892 1 202710706 [T/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_I912V,Missense_I948V,Missense_I867V exm138893 1 202710733 [G/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_E903Q,Missense_E939Q,Missense_E858Q variant.9388 1 202711514 [A/G] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B Silent,Silent,Silent exm138900 1 202711593 [T/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_V839M,Missense_V875M,Missense_V794M exm138901 1 202711625 [T/G] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_S828Y,Missense_S864Y,Missense_S783Y newrs56042155 1 202711778 [A/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B Silent,Silent,Silent variant.9391 1 202711781 [A/G] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B Silent,Silent,Silent variant.9392 1 202711782 [T/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B Silent,Silent,Silent exm138912 1 202714989 [T/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_K774E,Missense_K810E,Missense_K729E exm138919 1 202715270 [T/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_R733Q,Missense_R769Q,Missense_R688Q exm138920 1 202715271 [A/G] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_R733W,Missense_R769W,Missense_R688W rs1141108 1 202715284 [A/G] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Synonymous_Y728Y,Synonymous_Y764Y,Synonymous_Y683Y exm138922 1 202715288 [A/G] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_P727L,Missense_P763L,Missense_P682L exm138935 1 202719886 [T/A] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Nonsense_C574X,Nonsense_C610X,Nonsense_C529X variant.9395 1 202719900 [A/G] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Nonsense_R570X,Nonsense_R606X,Nonsense_R525X exm138942 1 202724559 [T/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_N460D,Missense_N496D,Missense_N415D exm138944 1 202725509 [T/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Missense_I445V,Missense_I481V,Missense_I400V rs3196669 1 202733238 [T/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B EXON Synonymous_T249T,Synonymous_T285T,Synonymous_T204T rs4351714 1 202760658 [T/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B Silent,Silent,Silent rs6427967 1 202765279 [T/C] NM_006618,NM_001314042,NM_001347591 KDM5B,KDM5B,KDM5B Silent,Silent,Silent rs2275895 1 202780530 [T/C] NR_046326,NR_046325 PCAT6,PCAT6 Silent,Silent rs2246083 1 202781164 [A/G] rs12139944 1 202794787 [T/C] NR_038135 MGAT4EP EXON Silent rs10753921 1 202795831 [A/G] NR_038135 MGAT4EP EXON Silent rs4950949 1 202810562 [T/C] rs2298261 1 202826538 [T/C] rs6663182 1 202827191 [A/G] rs11590469 1 202843127 [T/C] NR_002929 LOC148709 EXON Silent rs6703138 1 202847719 [A/G] NM_002871 RABIF EXON Silent rs1131906 1 202849723 [A/G] NM_002871 RABIF EXON Silent newrs146254234 1 202850123 [A/G] NM_002871 RABIF EXON Nonsense_R119X rs4950887 1 202870330 [T/C] NM_001303051,NM_021633,NM_001303109 KLHL12,KLHL12,KLHL12 Silent,Silent,Silent rs6686801 1 202874730 [T/C] NM_001303051,NM_021633,NM_001303109 KLHL12,KLHL12,KLHL12 Silent,Silent,Silent rs9919219 1 202877397 [T/C] NM_001303051,NM_021633,NM_001303109 KLHL12,KLHL12,KLHL12 Silent,Silent,Silent exm139058 1 202887337 [T/C] NM_001303051,NM_021633,NM_001303109 KLHL12,KLHL12,KLHL12 EXON Missense_G215R,Missense_G177R,Missense_G177R variant.9400 1 202889037 [A/C] NM_001303051,NM_021633,NM_001303109 KLHL12,KLHL12,KLHL12 Silent,Silent,Silent rs10800880 1 202892917 [T/C] NM_001303051,NM_021633,NM_001303109 KLHL12,KLHL12,KLHL12 Silent,Silent,Silent exm139068 1 202894165 [T/G] NM_001303051,NM_021633,NM_001303109 KLHL12,KLHL12,KLHL12 EXON Missense_K80N,Missense_K42N,Missense_K42N rs2363772 1 202899361 [A/C] exm2250487 1 202911267 [C/G] NM_001290557,NM_015999,NM_001290629,NM_001290553 ADIPOR1,ADIPOR1,ADIPOR1,ADIPOR1 EXON Synonymous_T295T,Synonymous_T295T,Synonymous_T295T,Synonymous_T295T rs16850799 1 202919851 [A/G] NM_001290557,NM_015999,NM_001290629,NM_001290553 ADIPOR1,ADIPOR1,ADIPOR1,ADIPOR1 Silent,Silent,Silent,Silent rs10494839 1 202922194 [T/C] NM_001290557,NM_015999,NM_001290629,NM_001290553 ADIPOR1,ADIPOR1,ADIPOR1,ADIPOR1 Silent,Silent,Silent,Silent rs10920532 1 202925256 [A/G] NM_001290557,NM_015999,NM_001290629,NM_001290553 ADIPOR1,ADIPOR1,ADIPOR1,ADIPOR1 Silent,Silent,Silent,Silent rs7514221 1 202926513 [T/C] NM_001290557,NM_015999,NM_001290629,NM_001290553 ADIPOR1,ADIPOR1,ADIPOR1,ADIPOR1 Silent,Silent,Silent,Silent rs2232851 1 202932154 [A/G] NM_016243 CYB5R1 Silent exm139122 1 202932203 [A/G] NM_016243 CYB5R1 EXON Missense_P246S exm139125 1 202932269 [C/G] NM_016243 CYB5R1 EXON Missense_E224Q exm139129 1 202932838 [A/G] NM_016243 CYB5R1 EXON Nonsense_Q193X exm139135 1 202933768 [C/G] NM_016243 CYB5R1 EXON Missense_K177N exm1746907 1 202935878 [A/G] NM_016243 CYB5R1 EXON Missense_T55M exm139158 1 202935911 [T/C] NM_016243 CYB5R1 EXON Missense_N44S exm139162 1 202936023 [A/G] NM_016243 CYB5R1 EXON Missense_P7S rs2363769 1 202940810 [A/C] rs12123211 1 202944639 [A/G] rs16850840 1 202948507 [A/G] rs2363770 1 202948992 [A/G] rs782810 1 202957351 [A/G] NR_036557 LOC100506747 Silent rs10800895 1 202969332 [A/G] NR_036557 LOC100506747 Silent rs6684819 1 202970774 [T/C] NR_036557 LOC100506747 Silent rs1361734 1 202974481 [A/G] NR_036557 LOC100506747 Silent rs11582753 1 202983294 [A/G] NR_136531,NR_136533,NR_146287,NR_136530,NR_136532,NR_146285,NR_146286,NM_138391,NR_146288,NR_136534,NM_001322956,NM_001322959,NM_001322958,NM_001322957,NM_001322955,NM_001079809,NM_001349859,NR_146289,NM_001349862 TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183B,TMEM183A,TMEM183A,TMEM183A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm139184 1 202984028 [A/G] NR_136531,NR_136533,NR_146287,NR_136530,NR_136532,NR_146285,NR_146286,NM_138391,NR_146288,NR_136534,NM_001322956,NM_001322959,NM_001322958,NM_001322957,NM_001322955,NM_001079809,NM_001349859,NR_146289,NM_001349862 TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183A,TMEM183B,TMEM183A,TMEM183A,TMEM183A EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G127R,Silent,Silent,Missense_G126R,Missense_G96R,Missense_G97R,Missense_G127R,Missense_G126R,Missense_G127R,Missense_G28R,Silent,Missense_G27R rs1774847 1 202994268 [T/C] rs782791 1 202998819 [A/G] NM_001304332,NM_001304331 PPFIA4,PPFIA4 Silent,Silent rs782802 1 203005821 [T/C] NM_001304332,NM_001304331 PPFIA4,PPFIA4 Silent,Silent rs754894 1 203017087 [T/C] NM_001304332,NM_001304331 PPFIA4,PPFIA4 Silent,Silent exm139266 1 203020973 [T/C] NM_001304332,NM_001304331 PPFIA4,PPFIA4 EXON Missense_R530C,Missense_R530C rs4950876 1 203021807 [A/G] NM_001304332,NM_001304331 PPFIA4,PPFIA4 Silent,Silent exm139294 1 203024756 [T/C] NM_001304332,NM_001304331 PPFIA4,PPFIA4 EXON Missense_R676C,Missense_R676C rs12097602 1 203025428 [A/G] NM_001304332,NM_001304331 PPFIA4,PPFIA4 Silent,Silent exm1746969 1 203025635 [A/G] NM_001304332,NM_001304331 PPFIA4,PPFIA4 EXON Missense_S747G,Missense_S747G variant.9413 1 203025910 [A/G] NM_001304332,NM_001304331 PPFIA4,PPFIA4 Silent,Silent exm139311 1 203029418 [T/C] NM_001304332,NM_001304331 PPFIA4,PPFIA4 EXON Missense_A886V,Missense_A886V exm139330 1 203033131 [A/G] NM_001304332,NM_001304331 PPFIA4,PPFIA4 EXON Missense_R1008Q,Missense_R1017Q rs3737883 1 203034906 [A/G] NM_001304332,NM_001304331 PPFIA4,PPFIA4 Silent,Silent rs6670637 1 203035551 [A/G] NM_001304332,NM_001304331 PPFIA4,PPFIA4 Silent,Silent variant.9416 1 203036893 [T/C] NM_001304332,NM_001304331 PPFIA4,PPFIA4 EXON Nonsense_R1032X,Nonsense_R1041X exm139337 1 203037646 [A/G] NM_001304332,NM_001304331 PPFIA4,PPFIA4 EXON Missense_A1063T,Missense_A1072T exm139341 1 203040874 [T/C] NM_001304332,NM_001304331 PPFIA4,PPFIA4 EXON Missense_R1118W,Missense_R1127W rs6682652 1 203045583 [T/C] NM_001304332,NM_001304331 PPFIA4,PPFIA4 EXON Silent,Silent rs10920562 1 203052360 [A/G] NM_002479 MYOG EXON Silent exm139365 1 203053787 [T/C] NM_002479 MYOG EXON Missense_A181T exm139374 1 203054651 [A/G] NM_002479 MYOG EXON Missense_R147C exm1747010 1 203054659 [T/C] NM_002479 MYOG EXON Missense_R144H exm139382 1 203054852 [T/C] NM_002479 MYOG EXON Missense_V80M exm139386 1 203054942 [C/G] NM_002479 MYOG EXON Missense_L50V exm139392 1 203054980 [T/C] NM_002479 MYOG EXON Missense_R37Q exm139393 1 203054984 [C/G] NM_002479 MYOG EXON Missense_E36Q rs11590405 1 203080264 [T/C] exm139401 1 203098000 [T/G] NM_001048230,NM_000674 ADORA1,ADORA1 EXON Missense_A11S,Missense_A11S exm139405 1 203098085 [T/C] NM_001048230,NM_000674 ADORA1,ADORA1 EXON Missense_A39V,Missense_A39V exm139408 1 203098126 [A/G] NM_001048230,NM_000674 ADORA1,ADORA1 EXON Missense_V53M,Missense_V53M rs6701725 1 203102728 [A/G] NM_001048230,NM_000674 ADORA1,ADORA1 Silent,Silent rs3766563 1 203111695 [T/C] NM_001048230,NM_000674 ADORA1,ADORA1 Silent,Silent rs6686206 1 203115832 [A/G] NM_001048230,NM_000674 ADORA1,ADORA1 Silent,Silent rs6677137 1 203123258 [T/C] NM_001048230,NM_000674 ADORA1,ADORA1 Silent,Silent rs10920576 1 203129179 [T/C] NM_001048230,NM_000674 ADORA1,ADORA1 Silent,Silent rs17465037 1 203130671 [A/G] NM_001048230,NM_000674 ADORA1,ADORA1 Silent,Silent rs3766554 1 203132990 [A/G] NM_001048230,NM_000674 ADORA1,ADORA1 Silent,Silent exm139429 1 203134669 [T/C] NM_001048230,NM_000674 ADORA1,ADORA1 EXON Missense_R208C,Missense_R208C exm139430 1 203134670 [A/G] NM_001048230,NM_000674 ADORA1,ADORA1 EXON Missense_R208H,Missense_R208H exm139431 1 203134682 [A/G] NM_001048230,NM_000674 ADORA1,ADORA1 EXON Missense_N212S,Missense_N212S exm139441 1 203135013 [C/G] NM_001048230,NM_000674 ADORA1,ADORA1 EXON Missense_E322D,Missense_E322D rs16851030 1 203135452 [T/C] NM_001048230,NM_000674 ADORA1,ADORA1 EXON Silent,Silent exm139450 1 203137795 [T/C] NM_004997 MYBPH EXON Missense_A476T exm139452 1 203138048 [T/C] NM_004997 MYBPH EXON Missense_R468Q exm139453 1 203138049 [A/G] NM_004997 MYBPH EXON Missense_R468W newrs142613512 1 203138485 [A/G] NM_004997 MYBPH EXON Nonsense_R376X exm139484 1 203140219 [C/G] NM_004997 MYBPH EXON Nonsense_Y301X exm2250488 1 203140228 [T/G] NM_004997 MYBPH EXON Synonymous_L298L exm139492 1 203140558 [T/C] NM_004997 MYBPH EXON Missense_R249H exm139494 1 203140586 [T/C] NM_004997 MYBPH EXON Missense_D240N exm139495 1 203140637 [A/G] NM_004997 MYBPH EXON Missense_R223C exm139496 1 203140648 [T/C] NM_004997 MYBPH EXON Missense_R219Q exm2250489 1 203140671 [A/G] NM_004997 MYBPH EXON Synonymous_N211N exm1747046 1 203141120 [A/C] NM_004997 MYBPH EXON Missense_R186L exm139512 1 203143668 [T/C] NM_004997 MYBPH EXON Missense_R133Q exm139513 1 203143698 [T/C] NM_004997 MYBPH EXON Missense_R123Q exm2250490 1 203143721 [T/C] NM_004997 MYBPH EXON Synonymous_S115S exm139517 1 203143725 [G/C] NM_004997 MYBPH EXON Missense_A114G exm139521 1 203144500 [T/C] NM_004997 MYBPH EXON Missense_R99G exm139525 1 203144712 [A/G] NM_004997 MYBPH EXON Missense_S58P exm139530 1 203144793 [T/C] NM_004997 MYBPH EXON Missense_G31R exm139535 1 203144874 [T/C] NM_004997 MYBPH EXON Missense_K4E rs903358 1 203147139 [A/C] exm139538 1 203148620 [G/C] NM_001276 CHI3L1 EXON Missense_R369G exm139542 1 203148674 [T/C] NM_001276 CHI3L1 EXON Missense_V351I exm139543 1 203148680 [T/C] NM_001276 CHI3L1 EXON Missense_A349T exm139546 1 203148698 [T/C] NM_001276 CHI3L1 EXON Missense_D343N exm139553 1 203148902 [A/C] NM_001276 CHI3L1 EXON Missense_S333I exm139559 1 203148963 [T/C] NM_001276 CHI3L1 EXON Missense_G313S exm139563 1 203149627 [A/T] NM_001276 CHI3L1 EXON Nonsense_K289X exm139572 1 203150330 [T/C] NM_001276 CHI3L1 EXON Missense_R224Q exm139574 1 203150364 [A/G] NM_001276 CHI3L1 EXON Missense_R213C exm139577 1 203150385 [A/G] NM_001276 CHI3L1 EXON Missense_Y206H rs7542294 1 203151176 [A/G] NM_001276 CHI3L1 Silent exm139583 1 203151920 [T/C] NM_001276 CHI3L1 EXON Missense_A176T rs880633 1 203152801 [T/C] NM_001276 CHI3L1 EXON Missense_R145G exm139587 1 203152801 [T/C] NM_001276 CHI3L1 EXON Missense_R145G exm139590 1 203152851 [T/C] NM_001276 CHI3L1 EXON Missense_R128H exm139593 1 203152860 [A/G] NM_001276 CHI3L1 EXON Missense_P125L exm139595 1 203152864 [G/C] NM_001276 CHI3L1 EXON Missense_P124A exm139599 1 203152911 [T/G] NM_001276 CHI3L1 EXON Missense_K108T indel.9438 1 203153752 [I/D] NM_001276 CHI3L1 EXON exm139603 1 203154337 [T/C] NM_001276 CHI3L1 EXON Missense_G78S exm139604 1 203154356 [T/C] NM_001276 CHI3L1 EXON Nonsense_W71X exm139606 1 203154370 [T/C] NM_001276 CHI3L1 EXON Missense_D67N exm139607 1 203154379 [T/C] NM_001276 CHI3L1 EXON Missense_D64N exm139609 1 203154427 [A/G] NM_001276 CHI3L1 EXON Missense_R48C exm1747085 1 203154512 [A/G] NM_001276 CHI3L1 EXON Synonymous_C19C exm139621 1 203155729 [A/G] NM_001276 CHI3L1 EXON Missense_T8I rs10399931 1 203156080 [T/C] rs946261 1 203157873 [T/C] rs12141375 1 203181362 [A/C] exm139636 1 203186067 [A/G] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_P451S,Missense_P432S,Silent exm139638 1 203186076 [A/G] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Nonsense_Q448X,Nonsense_Q429X,Silent exm139639 1 203186093 [G/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_A442G,Missense_A423G,Silent exm1747094 1 203186123 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_R432Q,Missense_R413Q,Silent exm139642 1 203186153 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_G422D,Missense_G403D,Silent variant.9442 1 203186262 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 Silent,Silent,Silent,Silent exm-IND1-201453487 1 203186865 [D/I] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 exm139648 1 203186878 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_R382Q,Missense_R363Q,Silent exm139653 1 203186950 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Nonsense_W358X,Nonsense_W339X,Silent exm139655 1 203186963 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_G354R,Missense_G335R,Silent exm2250491 1 203186964 [A/G] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Synonymous_G353G,Synonymous_G334G,Silent exm139656 1 203186964 [A/G] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Synonymous_G353G,Synonymous_G334G,Silent exm139659 1 203186979 [A/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_K348N,Missense_K329N,Silent exm1747099 1 203186990 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_S345G,Missense_S326G,Silent exm139670 1 203188792 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Synonymous_E305E,Synonymous_E286E,Silent variant.9445 1 203188798 [T/G] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Nonsense_Y303X,Nonsense_Y284X,Silent exm139675 1 203188905 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_G268R,Missense_G249R,Silent exm2250492 1 203188948 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Synonymous_K253K,Synonymous_K234K,Silent rs946258 1 203190240 [A/G] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 Silent,Silent,Silent,Silent exm139686 1 203192267 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_A201T,Missense_A182T,Silent exm139689 1 203192355 [A/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_Q171H,Missense_Q152H,Silent exm1747115 1 203192360 [A/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_A170S,Missense_A151S,Silent exm1747120 1 203192658 [A/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_A149S,Missense_A130S,Silent exm139698 1 203192681 [T/G] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_Y141S,Missense_Y122S,Silent rs2486069 1 203193736 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 Silent,Silent,Silent,Silent exm139707 1 203194175 [A/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 Silent,Silent,Silent,Silent exm139708 1 203194186 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_G102S,Silent,Silent exm139709 1 203194201 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_G97R,Silent,Silent exm139710 1 203194206 [A/G] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_A95V,Silent,Silent exm139715 1 203194834 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_E74K,Missense_E74K,Silent exm139716 1 203194848 [A/G] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_T69I,Missense_T69I,Silent exm139720 1 203194899 [T/G] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_T52N,Missense_T52N,Silent exm139723 1 203194935 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_R40H,Missense_R40H,Silent exm139726 1 203194965 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_N30S,Missense_N30S,Silent rs3766537 1 203195877 [T/G] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 Silent,Silent,Silent,Silent variant.9453 1 203197656 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 Silent,Silent,Silent,Silent newrs149866748 1 203197663 [T/C] NR_045784,NM_003465,NM_001256125,NR_045785 CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Nonsense_W18X,Nonsense_W18X,Silent exm-rs2494287 1 203207520 [T/C] rs7547716 1 203209481 [T/G] rs2494295 1 203218176 [A/G] rs2486948 1 203222108 [A/G] rs7530789 1 203232771 [A/G] rs2486928 1 203238568 [A/G] rs6427997 1 203238707 [A/C] rs7551146 1 203244113 [T/C] rs2494302 1 203245214 [A/G] rs1934657 1 203250860 [T/C] rs871850 1 203253226 [T/C] rs4971226 1 203256800 [T/G] NR_117097 LINC01353 Silent exm2259932 1 203260756 [A/G] rs12136280 1 203271930 [T/G] NR_034150,NR_034151 LINC01136,LINC01136 Silent,Silent exm139763 1 203276546 [A/G] NM_006763 BTG2 EXON Missense_V153M rs7513835 1 203288743 [T/C] rs12757745 1 203308968 [A/G] exm2232286 1 203309752 [T/C] NM_002023,NR_103757 FMOD,FMOD EXON Silent,Silent exm139777 1 203316428 [G/C] NM_002023,NR_103757 FMOD,FMOD EXON Missense_R324T,Silent exm1747151 1 203316600 [C/G] NM_002023,NR_103757 FMOD,FMOD EXON Missense_A267P,Silent exm139784 1 203316606 [A/G] NM_002023,NR_103757 FMOD,FMOD EXON Missense_R265W,Silent exm1747152 1 203316723 [T/C] NM_002023,NR_103757 FMOD,FMOD EXON Missense_I226V,Silent exm1747156 1 203316935 [G/C] NM_002023,NR_103757 FMOD,FMOD EXON Missense_R155T,Silent exm139801 1 203316959 [T/C] NM_002023,NR_103757 FMOD,FMOD EXON Missense_G147D,Silent exm139806 1 203317031 [A/C] NM_002023,NR_103757 FMOD,FMOD EXON Missense_G123V,Silent exm139808 1 203317082 [T/C] NM_002023,NR_103757 FMOD,FMOD EXON Missense_R106H,Silent newrs138277496 1 203317099 [A/C] NM_002023,NR_103757 FMOD,FMOD EXON Synonymous_L100L,Silent rs7543148 1 203317162 [T/C] NM_002023,NR_103757 FMOD,FMOD EXON Synonymous_E79E,Silent exm139820 1 203317208 [A/G] NM_002023,NR_103757 FMOD,FMOD EXON Missense_T64I,Silent exm139825 1 203317274 [T/G] NM_002023,NR_103757 FMOD,FMOD EXON Missense_Y42S,Silent exm139833 1 203317394 [T/C] NM_002023,NR_103757 FMOD,FMOD EXON Missense_Q2R,Silent rs10128007 1 203319739 [A/C] NM_002023,NR_103757 FMOD,FMOD Silent,Silent rs10494841 1 203328740 [T/C] rs12090788 1 203337500 [T/C] rs12139058 1 203339985 [A/G] rs6428005 1 203349524 [A/G] rs7540920 1 203351887 [T/G] rs10920623 1 203352061 [A/G] rs10800925 1 203365232 [A/G] rs7521975 1 203370193 [A/G] rs1539144 1 203372186 [A/G] rs1539143 1 203372485 [A/G] rs1891181 1 203378754 [A/G] rs4971222 1 203379696 [T/C] rs12127756 1 203388521 [A/G] rs10920650 1 203393566 [T/C] rs4971229 1 203402716 [A/G] rs12757606 1 203403981 [A/G] rs6681328 1 203404635 [A/G] rs999051 1 203411859 [T/C] rs2802791 1 203430997 [T/G] rs880878 1 203435718 [A/G] exm2263844 1 203440733 [A/C] rs2802796 1 203440733 [A/C] exm1747168 1 203452341 [T/C] NM_002725,NM_201348 PRELP,PRELP EXON Missense_P10L,Missense_P10L exm1747169 1 203452346 [T/C] NM_002725,NM_201348 PRELP,PRELP EXON Missense_L12F,Missense_L12F exm2273738 1 203452596 [A/G] NM_002725,NM_201348 PRELP,PRELP EXON Missense_R95Q,Missense_R95Q newrs139739246 1 203452697 [T/C] NM_002725,NM_201348 PRELP,PRELP EXON Nonsense_R129X,Nonsense_R129X exm139854 1 203452753 [T/G] NM_002725,NM_201348 PRELP,PRELP EXON Missense_E147D,Missense_E147D exm139856 1 203452763 [A/G] NM_002725,NM_201348 PRELP,PRELP EXON Missense_G151S,Missense_G151S exm139858 1 203452781 [A/G] NM_002725,NM_201348 PRELP,PRELP EXON Missense_M157V,Missense_M157V exm139859 1 203452793 [A/C] NM_002725,NM_201348 PRELP,PRELP EXON Missense_Q161K,Missense_Q161K exm139866 1 203452929 [A/G] NM_002725,NM_201348 PRELP,PRELP EXON Missense_R206K,Missense_R206K exm2232290 1 203452955 [A/G] NM_002725,NM_201348 PRELP,PRELP EXON Missense_D215N,Missense_D215N exm139884 1 203453268 [A/C] NM_002725,NM_201348 PRELP,PRELP EXON Missense_N319T,Missense_N319T exm139888 1 203455861 [A/G] NM_002725,NM_201348 PRELP,PRELP EXON Missense_N334S,Missense_N334S exm139891 1 203455902 [A/C] NM_002725,NM_201348 PRELP,PRELP EXON Missense_N348H,Missense_N348H rs1166 1 203456221 [A/C] NM_002725,NM_201348 PRELP,PRELP EXON Silent,Silent rs16851710 1 203459718 [A/G] NM_002725,NM_201348 PRELP,PRELP EXON Silent,Silent rs947367 1 203461778 [T/C] exm139904 1 203465174 [T/C] NM_014359 OPTC EXON Missense_L14P exm139907 1 203465273 [A/G] NM_014359 OPTC EXON Missense_R47Q exm139908 1 203465312 [T/C] NM_014359 OPTC EXON Missense_I60T variant.9464 1 203465330 [A/G] NM_014359 OPTC EXON Missense_E66G variant.9465 1 203465353 [T/C] NM_014359 OPTC EXON Nonsense_Q74X exm139917 1 203466190 [T/C] NM_014359 OPTC EXON Missense_T106M newrs143593924 1 203466244 [A/G] NM_014359 OPTC Silent exm139924 1 203467929 [T/G] NM_014359 OPTC EXON Missense_R164L exm139927 1 203467938 [A/G] NM_014359 OPTC EXON Missense_R167H exm139929 1 203467949 [A/G] NM_014359 OPTC EXON Missense_E171K exm2232291 1 203467965 [T/C] NM_014359 OPTC EXON Missense_L176P exm139932 1 203468792 [T/C] NM_014359 OPTC EXON Missense_I182T exm139933 1 203468797 [G/C] NM_014359 OPTC EXON Missense_L184V exm139941 1 203468932 [T/C] NM_014359 OPTC EXON Missense_R229C exm139949 1 203472112 [T/C] NM_014359 OPTC EXON Missense_L268P exm139954 1 203472696 [A/C] NM_014359 OPTC EXON Missense_M283L exm139956 1 203472708 [A/G] NM_014359 OPTC EXON Missense_V287I exm139957 1 203472742 [A/G] NM_014359 OPTC EXON Missense_R298H exm139962 1 203472822 [T/C] NM_014359 OPTC EXON Missense_R325W exm139964 1 203472838 [A/G] NM_014359 OPTC EXON Missense_R330H rs4971243 1 203474617 [A/G] NM_014359 OPTC Silent rs4971240 1 203488951 [T/G] rs6670438 1 203508174 [T/C] rs2802774 1 203527812 [A/C] rs2821218 1 203538470 [T/C] rs2798625 1 203554848 [T/G] rs4951272 1 203575667 [A/G] rs3900967 1 203583705 [A/G] rs12120868 1 203587538 [T/G] rs4245719 1 203595146 [A/G] rs4600103 1 203596318 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Silent,Silent rs10793746 1 203605690 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent rs16852017 1 203636479 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent rs12568960 1 203636551 [T/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent rs11580986 1 203644549 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent rs4951357 1 203644628 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent exm139968 1 203652338 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_T2M,Missense_T2M exm2275533 1 203652352 [A/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_R7S,Missense_R7S exm139971 1 203652469 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_V46I,Missense_V46I rs10900588 1 203656814 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent rs4951073 1 203658486 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent rs7529482 1 203659355 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent exm139979 1 203667459 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_R123H,Missense_R123H exm139984 1 203668744 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_R183H,Missense_R183H exm139997 1 203670013 [T/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_G288V,Missense_G288V rs3766752 1 203670179 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent exm140007 1 203672867 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_V342A,Missense_V342A rs16852191 1 203675105 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent exm140021 1 203677138 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_R488H,Missense_R488H variant.9473 1 203680012 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Nonsense_R603X,Nonsense_R603X exm140045 1 203680024 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_R607W,Missense_R607W exm140049 1 203680051 [A/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_N616H,Missense_N616H exm140050 1 203680052 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_N616S,Missense_N616S exm140057 1 203680186 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_E661K,Missense_E661K exm140060 1 203680201 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_A666T,Missense_A666T rs2236552 1 203680420 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent rs6655965 1 203680492 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent exm140068 1 203681172 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_I706V,Missense_I706V rs11808688 1 203689314 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent exm1747247 1 203690406 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_P894S,Missense_P894S exm140092 1 203690537 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Synonymous_A937A,Synonymous_A937A exm140093 1 203691612 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_K940R,Missense_K940R exm1747254 1 203691770 [C/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_R993G,Missense_R993G exm140102 1 203691771 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_R993H,Missense_R993H rs10494845 1 203692179 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent exm140107 1 203693084 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_F1034L,Missense_F1034L rs4951130 1 203695836 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent exm140112 1 203696548 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_S1053F,Missense_S1053F indel.9475 1 203702533 [D/I] NM_001684,NM_001001396 ATP2B4,ATP2B4 newrs41264257 1 203708772 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Synonymous_F1136F,Silent variant.9477 1 203708774 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_A1137V,Silent exm140128 1 203708783 [A/T] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_E1140V,Silent exm140134 1 203708945 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_S1194L,Silent rs955865 1 203709034 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Silent,Silent rs568 1 203713133 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Silent,Silent newrs185791194 1 203734493 [A/G] NM_017773,NM_001136190 LAX1,LAX1 EXON Silent,Nonsense_W8X exm140146 1 203734770 [A/G] NM_017773,NM_001136190 LAX1,LAX1 EXON Missense_R26H,Silent exm140149 1 203739987 [A/G] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Missense_G41R,Missense_G25R,Silent exm2275535 1 203740005 [A/G] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Missense_A47T,Missense_A31T,Silent exm140151 1 203740024 [T/C] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Missense_A53V,Missense_A37V,Silent exm140153 1 203740057 [A/G] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Missense_R64Q,Missense_R48Q,Silent variant.9480 1 203740065 [T/C] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Nonsense_R67X,Nonsense_R51X,Silent variant.9481 1 203740066 [A/G] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 Silent,Silent,Silent exm140164 1 203741217 [T/C] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Missense_M111T,Missense_M95T,Missense_M35T exm140166 1 203743003 [A/C] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Missense_P131T,Missense_P115T,Missense_P55T exm140172 1 203743063 [A/G] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Missense_A151T,Missense_A135T,Missense_A75T exm140179 1 203743128 [A/C] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Missense_H172Q,Missense_H156Q,Missense_H96Q exm140180 1 203743145 [T/C] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Missense_A178V,Missense_A162V,Missense_A102V exm140183 1 203743286 [T/C] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Missense_L225P,Missense_L209P,Missense_L149P exm140188 1 203743360 [G/C] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Missense_E250Q,Missense_E234Q,Missense_E174Q exm2232298 1 203743490 [A/G] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Missense_D293G,Missense_D277G,Missense_D217G exm140191 1 203743520 [G/C] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Missense_S303T,Missense_S287T,Missense_S227T exm140192 1 203743546 [A/G] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Missense_D312N,Missense_D296N,Missense_D236N exm1747284 1 203743576 [A/G] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Missense_E322K,Missense_E306K,Missense_E246K exm140195 1 203743597 [A/G] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Missense_G329R,Missense_G313R,Missense_G253R exm140197 1 203743706 [T/C] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Missense_M365T,Missense_M349T,Missense_M289T exm140201 1 203743798 [T/C] NM_017773,NM_001136190,NM_001282878 LAX1,LAX1,LAX1 EXON Missense_P396S,Missense_P380S,Missense_P320S rs2185080 1 203747752 [A/G] rs9787160 1 203749270 [A/G] rs6593939 1 203753454 [A/C] rs6593945 1 203762306 [T/C] exm140205 1 203766895 [T/C] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827,NM_001174108 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZBED6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A82V exm140206 1 203766964 [A/G] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827,NM_001174108 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZBED6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N105S rs3737972 1 203766964 [A/G] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827,NM_001174108 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZBED6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N105S exm140207 1 203767030 [A/G] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827,NM_001174108 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZBED6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S127N exm140212 1 203767822 [T/G] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827,NM_001174108 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZBED6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L391R exm140215 1 203768328 [T/C] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827,NM_001174108 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZBED6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_F560L rs7540041 1 203769532 [A/G] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827,NM_001174108 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZBED6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S961N exm140218 1 203769532 [A/G] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827,NM_001174108 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZBED6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S961N rs12145049 1 203777741 [T/C] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12562014 1 203779905 [T/C] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4951022 1 203784993 [T/C] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm140223 1 203787727 [A/C] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A EXON Missense_E28D,Missense_E28D,Missense_E28D,Missense_E28D,Missense_E28D,Missense_E28D,Missense_E28D,Missense_E28D,Missense_E28D exm140243 1 203798949 [G/C] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A EXON Missense_L182V,Missense_L182V,Missense_L182V,Missense_L182V,Missense_L182V,Missense_L182V,Missense_L182V,Missense_L182V,Missense_L182V exm140247 1 203798997 [T/C] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A EXON Missense_R198W,Missense_R198W,Missense_R198W,Missense_R198W,Missense_R198W,Missense_R198W,Missense_R198W,Missense_R198W,Missense_R198W exm140251 1 203799328 [A/G] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A EXON Missense_G233S,Missense_G233S,Missense_G233S,Missense_G233S,Missense_G233S,Missense_G233S,Missense_G233S,Missense_G233S,Missense_G233S exm140281 1 203816665 [A/G] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A EXON Missense_M466V,Missense_M466V,Missense_M466V,Missense_M466V,Missense_M466V,Missense_M466V,Missense_M466V,Missense_M466V,Missense_M466V exm140284 1 203816767 [A/G] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A EXON Missense_E500K,Missense_E500K,Missense_E500K,Missense_E500K,Missense_E500K,Missense_E500K,Missense_E500K,Missense_E500K,Missense_E500K exm140285 1 203816788 [T/C] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A EXON Missense_R507W,Missense_R507W,Missense_R507W,Missense_R507W,Missense_R507W,Missense_R507W,Missense_R507W,Missense_R507W,Missense_R507W exm140292 1 203817527 [A/G] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A EXON Missense_A539T,Missense_A539T,Missense_A539T,Missense_A539T,Missense_A539T,Missense_A539T,Missense_A539T,Missense_A539T,Missense_A539T exm140302 1 203819122 [C/G] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A EXON Missense_C636S,Missense_C636S,Missense_C636S,Missense_C636S,Missense_C636S,Missense_C636S,Missense_C636S,Missense_C636S,Missense_C636S exm140306 1 203819654 [A/G] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A EXON Missense_V651M,Missense_V649M,Missense_V651M,Missense_V651M,Missense_V649M,Missense_V651M,Missense_V651M,Missense_V651M,Missense_V651M exm2232306 1 203823256 [A/G] NM_001319239,NM_001350266,NM_001350261,NM_001350262,NM_001350265,NM_001350264,NM_001350263,NM_001319238,NM_014827 ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A,ZC3H11A EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4951031 1 203829556 [A/G] rs6696091 1 203837577 [T/G] NM_001304464,NR_130746,NM_003094,NM_001328638,NM_001328637 SNRPE,SNRPE,SNRPE,SNRPE,SNRPE Silent,Silent,Silent,Silent,Silent rs6702219 1 203850090 [A/G] rs1891432 1 203877662 [T/C] exm2250494 1 203898362 [T/G] rs7545327 1 203907135 [T/C] rs1935588 1 203910220 [A/G] rs11240629 1 203915958 [A/G] rs9438454 1 203918185 [A/G] rs6593984 1 203922784 [A/G] rs11588335 1 203963678 [T/C] rs6674546 1 203967091 [A/G] rs2796424 1 203972021 [T/C] rs12120627 1 203972175 [A/G] rs2796433 1 203982333 [A/G] rs2810618 1 203996314 [T/C] rs2366009 1 204011313 [T/C] rs6660981 1 204028177 [T/G] rs3911890 1 204030721 [A/G] rs12023823 1 204045948 [A/G] NM_005686 SOX13 Silent rs4951302 1 204049354 [A/G] NM_005686 SOX13 Silent rs7550796 1 204054323 [A/G] NM_005686 SOX13 Silent rs6593993 1 204062992 [A/G] NM_005686 SOX13 Silent rs16852826 1 204068110 [A/G] NM_005686 SOX13 Silent rs3795579 1 204069838 [T/G] NM_005686 SOX13 Silent rs7549807 1 204079268 [T/C] NM_005686 SOX13 Silent rs2250538 1 204081892 [T/C] NM_005686 SOX13 Silent exm140368 1 204082173 [A/G] NM_005686 SOX13 EXON Missense_A44T exm140381 1 204086760 [G/C] NM_005686 SOX13 EXON Missense_P234A exm140396 1 204091410 [A/G] NM_005686 SOX13 EXON Missense_E303K exm140397 1 204091447 [T/G] NM_005686 SOX13 EXON Missense_M315R exm140398 1 204091459 [T/C] NM_005686 SOX13 EXON Missense_V319A exm140406 1 204092030 [A/G] NM_005686 SOX13 EXON Missense_R358Q exm140408 1 204092087 [A/G] NM_005686 SOX13 EXON Missense_R377H exm140411 1 204092283 [A/G] NM_005686 SOX13 EXON Missense_E393G exm140413 1 204092288 [A/G] NM_005686 SOX13 EXON Missense_G395S exm140414 1 204092317 [A/G] NM_005686 SOX13 EXON Missense_M404I exm140420 1 204093880 [A/G] NM_005686 SOX13 EXON Missense_R496Q exm140422 1 204093967 [A/G] NM_005686 SOX13 EXON Missense_R525H exm140424 1 204094987 [T/C] NM_005686 SOX13 EXON Missense_P532S exm140434 1 204095192 [A/G] NM_005686 SOX13 EXON Missense_R600Q exm140438 1 204095221 [A/G] NM_005686 SOX13 EXON Missense_E610K rs2293335 1 204103618 [A/G] NM_001297762,NM_001297761,NM_018208,NM_001297760 ETNK2,ETNK2,ETNK2,ETNK2 Silent,Silent,Silent,Silent exm140453 1 204106316 [C/G] NM_001297762,NM_001297761,NM_018208,NM_001297760 ETNK2,ETNK2,ETNK2,ETNK2 EXON Missense_H269Q,Missense_H132Q,Missense_H310Q,Missense_H310Q exm140456 1 204106337 [C/G] NM_001297762,NM_001297761,NM_018208,NM_001297760 ETNK2,ETNK2,ETNK2,ETNK2 EXON Missense_E262D,Missense_E125D,Missense_E303D,Missense_E303D exm140457 1 204106341 [T/C] NM_001297762,NM_001297761,NM_018208,NM_001297760 ETNK2,ETNK2,ETNK2,ETNK2 EXON Missense_R261Q,Missense_R124Q,Missense_R302Q,Missense_R302Q rs10900553 1 204108163 [T/C] NM_001297762,NM_001297761,NM_018208,NM_001297760 ETNK2,ETNK2,ETNK2,ETNK2 Silent,Silent,Silent,Silent rs4951307 1 204108493 [A/G] NM_001297762,NM_001297761,NM_018208,NM_001297760 ETNK2,ETNK2,ETNK2,ETNK2 Silent,Silent,Silent,Silent exm140469 1 204110547 [T/C] NM_001297762,NM_001297761,NM_018208,NM_001297760,NR_123739 ETNK2,ETNK2,ETNK2,ETNK2,ERLNC1 EXON Missense_R186Q,Missense_R49Q,Missense_R227Q,Missense_R227Q,Silent exm-rs3795578 1 204112984 [A/G] NM_001297762,NM_001297761,NM_018208,NM_001297760 ETNK2,ETNK2,ETNK2,ETNK2 Silent,Silent,Silent,Silent rs1917542 1 204114846 [A/G] NM_001297762,NM_001297761,NM_018208,NM_001297760 ETNK2,ETNK2,ETNK2,ETNK2 Silent,Silent,Silent,Silent exm140492 1 204118850 [A/G] NM_001297762,NM_001297761,NM_018208,NM_001297760 ETNK2,ETNK2,ETNK2,ETNK2 EXON Missense_R167C,Silent,Missense_R167C,Missense_R167C exm140504 1 204120952 [T/G] NM_001297762,NM_001297761,NM_018208,NM_001297760 ETNK2,ETNK2,ETNK2,ETNK2 EXON Missense_P10Q,Silent,Missense_P10Q,Missense_P10Q exm1747418 1 204125029 [A/G] NM_000537 REN EXON Synonymous_N326N exm140535 1 204128567 [T/C] NM_000537 REN EXON Missense_G217R exm140542 1 204128683 [A/G] NM_000537 REN EXON Missense_T178M exm140567 1 204131245 [A/G] NM_000537 REN EXON Nonsense_R49X rs6693954 1 204132638 [T/A] NM_000537 REN Silent rs6676670 1 204132816 [T/G] NM_000537 REN Silent exm140569 1 204135325 [A/G] NM_000537 REN EXON Missense_R33W rs6681776 1 204136628 [T/C] rs6702587 1 204143007 [T/C] rs11240695 1 204158132 [A/C] exm140581 1 204159701 [T/G] NM_002256 KISS1 EXON Missense_P110T exm140589 1 204159922 [T/C] NM_002256 KISS1 EXON Missense_Q36R rs4951316 1 204161490 [T/C] NM_002256 KISS1 Silent var_1_204161945 1 204161945 [I/D] NM_002256 KISS1 EXON rs3924586 1 204166043 [T/C] indel.9499 1 204170759 [D/I] NM_198447 GOLT1A exm2232309 1 204170776 [A/C] NM_198447 GOLT1A EXON Missense_F94C exm140604 1 204170801 [T/C] NM_198447 GOLT1A EXON Missense_G86S exm140608 1 204170825 [T/C] NM_198447 GOLT1A EXON Missense_V78M exm140612 1 204170926 [A/G] NM_198447 GOLT1A EXON Missense_T44M variant.9500 1 204172024 [A/G] NM_198447 GOLT1A EXON Synonymous_N39N rs4373805 1 204175579 [A/G] NM_198447 GOLT1A Silent exm140633 1 204197220 [T/G] NM_014935 PLEKHA6 EXON Missense_M1008L exm140642 1 204197356 [A/G] NM_014935 PLEKHA6 EXON Synonymous_S962S exm140652 1 204198120 [T/C] NM_014935 PLEKHA6 EXON Missense_R899Q exm140657 1 204198175 [A/G] NM_014935 PLEKHA6 EXON Missense_R881W rs3795571 1 204198209 [A/G] NM_014935 PLEKHA6 EXON Synonymous_H869H exm1747483 1 204198210 [T/G] NM_014935 PLEKHA6 EXON Missense_H869P exm2263845 1 204198882 [A/C] NM_014935 PLEKHA6 Silent exm140669 1 204199614 [T/C] NM_014935 PLEKHA6 EXON Missense_R837K rs4412655 1 204210750 [A/C] NM_014935 PLEKHA6 Silent rs12744138 1 204211925 [T/C] NM_014935 PLEKHA6 Silent exm140687 1 204214011 [A/G] NM_014935 PLEKHA6 EXON Missense_T718I exm140691 1 204214075 [A/G] NM_014935 PLEKHA6 EXON Missense_S697P rs4951329 1 204216410 [T/C] NM_014935 PLEKHA6 Silent exm140709 1 204217950 [A/G] NM_014935 PLEKHA6 EXON Missense_T608M exm2250495 1 204217973 [A/G] NM_014935 PLEKHA6 EXON Synonymous_R600R exm140714 1 204217977 [A/C] NM_014935 PLEKHA6 EXON Missense_I599S exm140719 1 204218334 [A/C] NM_014935 PLEKHA6 EXON Missense_V551G exm140722 1 204218355 [A/G] NM_014935 PLEKHA6 EXON Missense_V544A exm140726 1 204219718 [A/G] NM_014935 PLEKHA6 EXON Missense_R517W exm140739 1 204226708 [A/G] NM_014935 PLEKHA6 EXON Missense_Y433H exm140744 1 204226775 [A/C] NM_014935 PLEKHA6 EXON Missense_K410N exm140748 1 204226851 [A/G] NM_014935 PLEKHA6 EXON Missense_P385L exm140759 1 204228419 [T/C] NM_014935 PLEKHA6 EXON Missense_R325H exm1747518 1 204228488 [T/C] NM_014935 PLEKHA6 EXON Missense_R302H exm1747519 1 204228503 [T/C] NM_014935 PLEKHA6 EXON Missense_R297Q exm140766 1 204228558 [A/G] NM_014935 PLEKHA6 EXON Missense_R279W exm140775 1 204228665 [A/G] NM_014935 PLEKHA6 EXON Missense_P243L rs4951338 1 204230052 [A/G] NM_014935 PLEKHA6 Silent exm2250496 1 204230565 [A/G] NM_014935 PLEKHA6 EXON Synonymous_A131A exm140790 1 204230576 [T/C] NM_014935 PLEKHA6 EXON Missense_A128T rs4951056 1 204232972 [T/C] NM_014935 PLEKHA6 Silent exm140803 1 204236636 [T/C] NM_014935 PLEKHA6 EXON Missense_V83I exm1747532 1 204237368 [A/G] NM_014935 PLEKHA6 EXON Missense_P59S rs10900571 1 204237416 [T/C] NM_014935 PLEKHA6 EXON Missense_V43I exm140814 1 204242756 [A/G] NM_014935 PLEKHA6 EXON Missense_R34W exm140818 1 204242827 [A/G] NM_014935 PLEKHA6 EXON Missense_P10L rs12145347 1 204244473 [T/C] NM_014935 PLEKHA6 Silent rs4245726 1 204254288 [T/C] NM_014935 PLEKHA6 Silent rs7525113 1 204263864 [T/C] NM_014935 PLEKHA6 Silent rs6594001 1 204266980 [A/G] NM_014935 PLEKHA6 Silent rs6660437 1 204274256 [T/G] NM_014935 PLEKHA6 Silent rs17333794 1 204282936 [T/C] NM_014935 PLEKHA6 Silent rs10900579 1 204289051 [A/G] NM_014935 PLEKHA6 Silent rs17333933 1 204289780 [T/G] NM_014935 PLEKHA6 Silent rs4951359 1 204290800 [A/G] NM_014935 PLEKHA6 Silent rs4951365 1 204317155 [A/C] NM_014935 PLEKHA6 Silent rs10494854 1 204323874 [A/G] NM_014935 PLEKHA6 Silent rs10736846 1 204353050 [A/G] rs2942133 1 204369875 [T/G] exm140830 1 204378654 [G/C] NM_032833 PPP1R15B EXON Missense_S629C exm140834 1 204378775 [T/C] NM_032833 PPP1R15B EXON Missense_K589E exm140836 1 204378846 [A/G] NM_032833 PPP1R15B EXON Missense_P565L exm140847 1 204379024 [T/C] NM_032833 PPP1R15B EXON Missense_E506K exm140851 1 204379089 [A/G] NM_032833 PPP1R15B EXON Missense_V484A exm140857 1 204379133 [T/A] NM_032833 PPP1R15B EXON Missense_E469D exm140865 1 204379297 [T/C] NM_032833 PPP1R15B EXON Missense_I415V exm140871 1 204379452 [T/C] NM_032833 PPP1R15B EXON Missense_E363G exm140879 1 204379752 [T/G] NM_032833 PPP1R15B EXON Missense_D263A exm140880 1 204379758 [T/C] NM_032833 PPP1R15B EXON Missense_R261K exm140892 1 204380022 [A/G] NM_032833 PPP1R15B EXON Missense_A173V exm140896 1 204380085 [A/G] NM_032833 PPP1R15B EXON Missense_S152L exm140897 1 204380110 [T/C] NM_032833 PPP1R15B EXON Missense_E144K exm140898 1 204380127 [A/C] NM_032833 PPP1R15B EXON Missense_S138I exm140906 1 204380232 [T/C] NM_032833 PPP1R15B EXON Missense_Y103C exm140920 1 204380375 [G/C] NM_032833 PPP1R15B EXON Missense_Q55H exm140922 1 204380404 [T/C] NM_032833 PPP1R15B EXON Missense_G46R exm140925 1 204380464 [A/G] NM_032833 PPP1R15B EXON Missense_P26S rs4951373 1 204392257 [A/G] NM_002646 PIK3C2B EXON Silent exm140936 1 204394023 [G/C] NM_002646 PIK3C2B EXON Missense_T1621S exm140939 1 204394056 [T/C] NM_002646 PIK3C2B EXON Missense_R1610H exm140942 1 204394081 [T/C] NM_002646 PIK3C2B EXON Missense_V1602I exm140946 1 204394119 [A/T] NM_002646 PIK3C2B EXON Missense_Q1589L rs17406271 1 204396728 [A/C] NM_002646 PIK3C2B Silent exm140953 1 204396787 [T/C] NM_002646 PIK3C2B EXON Missense_I1526V exm140959 1 204396867 [T/C] NM_002646 PIK3C2B EXON Missense_R1499Q variant.9507 1 204397349 [T/C] NM_002646 PIK3C2B Silent exm140974 1 204399135 [A/G] NM_002646 PIK3C2B EXON Missense_R1438W exm2275536 1 204399144 [G/C] NM_002646 PIK3C2B EXON Missense_G1435R exm1747569 1 204400886 [A/G] NM_002646 PIK3C2B EXON Synonymous_H1397H exm140985 1 204401338 [T/A] NM_002646 PIK3C2B EXON Missense_N1382I exm140988 1 204401392 [G/C] NM_002646 PIK3C2B EXON Missense_S1364C rs3747636 1 204403659 [A/G] NM_002646 PIK3C2B EXON Synonymous_N1198N exm141026 1 204409403 [T/C] NM_002646 PIK3C2B EXON Missense_R1099H exm141032 1 204411688 [G/C] NM_002646 PIK3C2B EXON Missense_S1041T exm141035 1 204411723 [T/G] NM_002646 PIK3C2B EXON Missense_F1029L exm141036 1 204411734 [T/C] NM_002646 PIK3C2B EXON Missense_V1026M exm141038 1 204412558 [T/G] NM_002646 PIK3C2B EXON Missense_P1012Q exm1747595 1 204412570 [T/C] NM_002646 PIK3C2B EXON Missense_R1008Q exm141040 1 204412582 [G/C] NM_002646 PIK3C2B EXON Missense_A1004G exm141041 1 204412588 [T/C] NM_002646 PIK3C2B EXON Missense_K1002R exm1747599 1 204413251 [A/G] NM_002646 PIK3C2B EXON Missense_R938C exm141049 1 204413259 [A/G] NM_002646 PIK3C2B EXON Missense_P935L exm141054 1 204413505 [A/G] NM_002646 PIK3C2B EXON Missense_S909L exm141061 1 204415207 [A/G] NM_002646 PIK3C2B EXON Missense_S852L rs3827534 1 204416501 [T/C] NM_002646 PIK3C2B Silent exm141066 1 204416604 [A/G] NM_002646 PIK3C2B EXON Missense_R817C exm141067 1 204416625 [T/C] NM_002646 PIK3C2B EXON Missense_S810G rs3106366 1 204417972 [A/G] NM_002646 PIK3C2B Silent exm141078 1 204418411 [T/C] NM_002646 PIK3C2B EXON Missense_G750S exm141083 1 204419062 [A/G] NM_002646 PIK3C2B EXON Missense_P717L exm2232315 1 204419139 [C/G] NM_002646 PIK3C2B EXON Missense_C691W exm141087 1 204419142 [G/C] NM_002646 PIK3C2B EXON Missense_I690M rs3014638 1 204420629 [A/G] NM_002646 PIK3C2B Silent exm141088 1 204423810 [T/C] NM_002646 PIK3C2B EXON Missense_V685I exm141103 1 204426183 [A/C] NM_002646 PIK3C2B EXON Missense_A577S rs1008833 1 204426295 [A/G] NM_002646 PIK3C2B Silent exm141114 1 204429679 [A/G] NM_002646 PIK3C2B EXON Missense_T474M exm141115 1 204429697 [T/C] NM_002646 PIK3C2B EXON Missense_R468H exm141116 1 204429698 [A/G] NM_002646 PIK3C2B EXON Missense_R468C exm141119 1 204429727 [T/C] NM_002646 PIK3C2B EXON Missense_R458Q exm2250498 1 204429756 [T/C] NM_002646 PIK3C2B EXON Synonymous_Q448Q rs2271415 1 204433093 [A/C] NM_002646 PIK3C2B Silent exm141128 1 204433727 [T/C] NM_002646 PIK3C2B EXON Missense_R347Q exm141131 1 204434438 [A/G] NM_002646 PIK3C2B EXON Missense_R315W var_1_204435899 1 204435899 [A/G] NM_002646 PIK3C2B Silent variant.9512 1 204437998 [A/C] NM_002646 PIK3C2B EXON Synonymous_P311P exm141147 1 204438032 [A/G] NM_002646 PIK3C2B EXON Missense_T300M exm141153 1 204438113 [T/G] NM_002646 PIK3C2B EXON Missense_P273H exm141161 1 204438186 [A/C] NM_002646 PIK3C2B EXON Missense_L249V exm141164 1 204438236 [T/C] NM_002646 PIK3C2B EXON Missense_N232S exm141170 1 204438326 [A/C] NM_002646 PIK3C2B EXON Missense_L202R exm2259933 1 204438334 [T/C] NM_002646 PIK3C2B EXON Synonymous_P199P exm141173 1 204438340 [A/T] NM_002646 PIK3C2B EXON Missense_Q197H exm2250499 1 204438643 [T/G] NM_002646 PIK3C2B EXON Synonymous_L96L exm141190 1 204438708 [A/G] NM_002646 PIK3C2B EXON Missense_R75W exm141198 1 204438908 [T/C] NM_002646 PIK3C2B EXON Missense_G8E rs12402641 1 204452779 [A/G] NM_002646 PIK3C2B Silent rs11240748 1 204453320 [T/C] NM_002646 PIK3C2B Silent rs7556371 1 204457336 [A/G] NM_002646 PIK3C2B Silent indel.9513 1 204494607 [D/I] NM_002393,NM_001204171,NM_001278518,NM_001278517,NM_001204172,NM_001278516,NM_001278519 MDM4,MDM4,MDM4,MDM4,MDM4,MDM4,MDM4 exm141203 1 204494668 [A/G] NM_002393,NM_001204171,NM_001278518,NM_001278517,NM_001204172,NM_001278516,NM_001278519 MDM4,MDM4,MDM4,MDM4,MDM4,MDM4,MDM4 EXON Missense_A8T,Missense_A8T,Missense_A8T,Missense_A8T,Missense_A8T,Missense_A8T,Missense_A8T exm141205 1 204494703 [C/G] NM_002393,NM_001204171,NM_001278518,NM_001278517,NM_001204172,NM_001278516,NM_001278519 MDM4,MDM4,MDM4,MDM4,MDM4,MDM4,MDM4 EXON Missense_I19M,Missense_I19M,Missense_I19M,Missense_I19M,Missense_I19M,Missense_I19M,Missense_I19M variant.9515 1 204501948 [A/G] NM_002393,NM_001204171,NM_001278518,NM_001278517,NM_001204172,NM_001278516,NM_001278519 MDM4,MDM4,MDM4,MDM4,MDM4,MDM4,MDM4 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm141228 1 204507383 [A/G] NM_002393,NM_001204171,NM_001278518,NM_001278517,NM_001204172,NM_001278516,NM_001278519 MDM4,MDM4,MDM4,MDM4,MDM4,MDM4,MDM4 EXON Missense_D153G,Missense_D153G,Silent,Missense_D55G,Silent,Synonymous_R130R,Silent newrs77617818 1 204507441 [A/G] NM_002393,NM_001204171,NM_001278518,NM_001278517,NM_001204172,NM_001278516,NM_001278519 MDM4,MDM4,MDM4,MDM4,MDM4,MDM4,MDM4 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2290853 1 204511704 [T/C] NM_002393,NM_001204171,NM_001278518,NM_001278517,NM_001204172,NM_001278516,NM_001278519 MDM4,MDM4,MDM4,MDM4,MDM4,MDM4,MDM4 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm141235 1 204511924 [T/C] NM_002393,NM_001204171,NM_001278518,NM_001278517,NM_001204172,NM_001278516,NM_001278519 MDM4,MDM4,MDM4,MDM4,MDM4,MDM4,MDM4 EXON Missense_I175T,Missense_I175T,Silent,Missense_I77T,Silent,Silent,Silent exm141236 1 204511936 [C/G] NM_002393,NM_001204171,NM_001278518,NM_001278517,NM_001204172,NM_001278516,NM_001278519 MDM4,MDM4,MDM4,MDM4,MDM4,MDM4,MDM4 EXON Missense_A179G,Missense_A179G,Silent,Missense_A81G,Silent,Silent,Silent exm141249 1 204515925 [T/G] NM_002393,NM_001204171,NM_001278518,NM_001278517,NM_001204172,NM_001278516,NM_001278519 MDM4,MDM4,MDM4,MDM4,MDM4,MDM4,MDM4 EXON Missense_V275L,Missense_V225L,Missense_G115V,Missense_V177L,Silent,Silent,Missense_V52L exm141250 1 204515942 [A/C] NM_002393,NM_001204171,NM_001278518,NM_001278517,NM_001204172,NM_001278516,NM_001278519 MDM4,MDM4,MDM4,MDM4,MDM4,MDM4,MDM4 EXON Missense_K280N,Missense_K230N,Silent,Missense_K182N,Silent,Silent,Missense_K57N rs2290854 1 204516025 [A/G] NM_002393,NM_001204171,NM_001278518,NM_001278517,NM_001204172,NM_001278516,NM_001278519 MDM4,MDM4,MDM4,MDM4,MDM4,MDM4,MDM4 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm141256 1 204518437 [T/C] NM_002393,NM_001204171,NM_001278518,NM_001278517,NM_001204172,NM_001278516,NM_001278519 MDM4,MDM4,MDM4,MDM4,MDM4,MDM4,MDM4 EXON Missense_S367L,Missense_S317L,Silent,Missense_S269L,Missense_S41L,Silent,Missense_S144L exm141258 1 204518457 [A/C] NM_002393,NM_001204171,NM_001278518,NM_001278517,NM_001204172,NM_001278516,NM_001278519 MDM4,MDM4,MDM4,MDM4,MDM4,MDM4,MDM4 EXON Missense_K374Q,Missense_K324Q,Silent,Missense_K276Q,Missense_K48Q,Silent,Missense_K151Q exm141261 1 204518499 [C/G] NM_002393,NM_001204171,NM_001278518,NM_001278517,NM_001204172,NM_001278516,NM_001278519 MDM4,MDM4,MDM4,MDM4,MDM4,MDM4,MDM4 EXON Missense_P388A,Missense_P338A,Silent,Missense_P290A,Missense_P62A,Silent,Missense_P165A exm141262 1 204518502 [T/C] NM_002393,NM_001204171,NM_001278518,NM_001278517,NM_001204172,NM_001278516,NM_001278519 MDM4,MDM4,MDM4,MDM4,MDM4,MDM4,MDM4 EXON Missense_C389R,Missense_C339R,Silent,Missense_C291R,Missense_C63R,Silent,Missense_C166R exm141263 1 204518530 [T/C] NM_002393,NM_001204171,NM_001278518,NM_001278517,NM_001204172,NM_001278516,NM_001278519 MDM4,MDM4,MDM4,MDM4,MDM4,MDM4,MDM4 EXON Missense_A398V,Missense_A348V,Silent,Missense_A300V,Missense_A72V,Silent,Missense_A175V rs4245739 1 204518842 [A/C] NM_002393,NM_001204171,NM_001278518,NM_001278517,NM_001204172,NM_001278516,NM_001278519 MDM4,MDM4,MDM4,MDM4,MDM4,MDM4,MDM4 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16854023 1 204551830 [T/C] rs6682208 1 204566183 [T/C] rs10900601 1 204572050 [A/G] exm-rs12143943 1 204572071 [A/G] exm141273 1 204587044 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_G693R,Missense_G693R exm141274 1 204587047 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_P692S,Missense_P692S rs11588857 1 204587047 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_P692S,Missense_P692S exm141278 1 204587145 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_V659A,Missense_V659A exm141279 1 204587173 [C/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_L650V,Missense_L650V exm141283 1 204587226 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_I632T,Missense_I632T rs3747632 1 204587240 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Synonymous_D627D,Synonymous_D627D exm141289 1 204587364 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_R586H,Missense_R586H exm141292 1 204587394 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_P576L,Missense_P576L exm141294 1 204587427 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_R565Q,Missense_R565Q exm141295 1 204587440 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_A561T,Missense_A561T exm141298 1 204587548 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_E525K,Missense_E525K exm1747703 1 204587589 [A/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_S511I,Missense_S511I exm141347 1 204588444 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_R226Q,Missense_R226Q exm141351 1 204588493 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_R210W,Missense_R210W exm141356 1 204588529 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_G198S,Missense_G198S exm141357 1 204588574 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_R183C,Missense_R183C exm141361 1 204588642 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_A160V,Missense_A160V exm141369 1 204588729 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_R131Q,Missense_R131Q exm1747716 1 204588793 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_D110N,Missense_D110N exm141372 1 204588799 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_A108T,Missense_A108T exm141376 1 204588859 [G/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_E88Q,Missense_E88Q exm141383 1 204588988 [A/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_S45A,Missense_S45A exm141385 1 204589057 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_V22M,Missense_V22M exm141386 1 204589066 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_A19T,Missense_A19T exm141388 1 204589101 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 EXON Missense_P7L,Missense_P7L rs4951087 1 204609194 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 Silent,Silent rs4951090 1 204618533 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 Silent,Silent rs4951092 1 204618573 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 Silent,Silent rs6667578 1 204626549 [T/C] NM_201630,NM_006338 LRRN2,LRRN2 Silent,Silent rs10900421 1 204646295 [A/G] NM_201630,NM_006338 LRRN2,LRRN2 Silent,Silent rs2782524 1 204656803 [A/C] rs10751426 1 204668280 [T/C] rs868506 1 204682411 [T/G] rs11240252 1 204691325 [A/G] rs6689270 1 204699500 [A/G] rs6680376 1 204700526 [T/C] rs12239515 1 204703480 [A/G] rs2012130 1 204717211 [T/C] rs2093537 1 204729758 [A/G] rs16854367 1 204739515 [T/C] rs11240265 1 204740078 [T/C] rs11240271 1 204747491 [A/G] rs12047135 1 204777269 [T/C] rs2025236 1 204783205 [A/G] exm-rs2025236 1 204783205 [A/G] rs7413575 1 204788772 [T/C] rs11801589 1 204807500 [A/G] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs4951136 1 204815729 [T/G] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs1548272 1 204829234 [A/G] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs16854617 1 204853338 [A/G] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs12405378 1 204861371 [T/C] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent exm2259934 1 204866365 [T/C] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs12025272 1 204869559 [A/G] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent exm2250500 1 204871146 [T/C] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs17336419 1 204876966 [T/G] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs2369423 1 204877670 [T/G] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs11240309 1 204878704 [A/G] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs11240310 1 204889532 [T/C] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs2625221 1 204904835 [A/G] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs2595955 1 204905920 [A/G] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs2802814 1 204906922 [T/C] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs12737855 1 204912843 [A/G] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent variant.9518 1 204913534 [T/C] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_P31S,Synonymous_L31L,Synonymous_L31L,Missense_P31S,Synonymous_L31L,Synonymous_L31L rs2595961 1 204913652 [A/G] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent,Silent variant.9519 1 204919702 [T/C] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Synonymous_L37L,Silent,Silent,Synonymous_L37L,Silent,Silent exm141412 1 204923406 [A/C] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_D102E,Missense_D96E,Missense_D96E,Missense_D102E,Missense_D96E,Missense_D96E exm2250502 1 204923418 [T/C] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Synonymous_G106G,Synonymous_G100G,Synonymous_G100G,Synonymous_G106G,Synonymous_G100G,Synonymous_G100G exm141416 1 204923418 [T/C] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Synonymous_G106G,Synonymous_G100G,Synonymous_G100G,Synonymous_G106G,Synonymous_G100G,Synonymous_G100G exm141421 1 204923497 [T/C] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_R133C,Missense_R127C,Missense_R127C,Missense_R133C,Missense_R127C,Missense_R127C exm141428 1 204924020 [T/C] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_T159M,Missense_T153M,Missense_T153M,Missense_T159M,Missense_T153M,Missense_T153M rs2275696 1 204927136 [A/G] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent,Silent rs12064077 1 204940961 [A/G] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent,Silent rs2595948 1 204942928 [T/C] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent,Silent exm141468 1 204943333 [T/C] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_R436W,Missense_R447W,Missense_R430W,Missense_R436W,Missense_R447W,Missense_R447W exm1747767 1 204943844 [A/G] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_G484D,Missense_G495D,Missense_G478D,Missense_G484D,Missense_G495D,Missense_G495D exm141485 1 204943936 [T/C] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_R515C,Missense_R526C,Missense_R509C,Missense_R515C,Missense_R526C,Missense_R526C exm141489 1 204944417 [A/G] NM_001005388,NM_001160332,NM_001160333,NM_001005389,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_R526Q,Missense_R537Q,Missense_R520Q,Missense_R526Q,Missense_R537Q,Missense_R537Q rs6663324 1 204946764 [T/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent rs3892248 1 204947702 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent exm141518 1 204948583 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_R691Q,Missense_R687Q,Missense_R687Q,Missense_R702Q exm141529 1 204950996 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_R773Q,Missense_R769Q,Missense_R769Q,Missense_R784Q exm141530 1 204951013 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_V779I,Missense_V775I,Missense_V775I,Missense_V790I exm141531 1 204951037 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_V787M,Missense_V783M,Missense_V783M,Missense_V798M exm141534 1 204951061 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_V795M,Missense_V791M,Missense_V791M,Missense_V806M exm1747784 1 204953167 [T/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Silent,Missense_A824V,Missense_A824V,Missense_A839V exm141539 1 204953188 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Silent,Missense_R831Q,Missense_R831Q,Missense_R846Q rs2278795 1 204954993 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent exm141550 1 204955073 [A/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Silent,Missense_N870K,Missense_N870K,Missense_N885K exm141553 1 204955131 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Silent,Missense_V890M,Missense_V890M,Missense_V905M exm141556 1 204955234 [T/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Silent,Missense_P924L,Missense_P924L,Missense_P939L rs11240325 1 204955329 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent exm141558 1 204956575 [T/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_R834W,Missense_R937W,Missense_R937W,Missense_R952W exm141566 1 204957826 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_V887M,Missense_V990M,Missense_V990M,Missense_V1005M exm141571 1 204957926 [T/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_P920L,Missense_P1023L,Missense_P1023L,Missense_P1038L exm141572 1 204957932 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_E922G,Missense_E1025G,Missense_E1025G,Missense_E1040G exm141579 1 204966300 [T/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_P929S,Silent,Silent,Silent exm141587 1 204966334 [T/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_T940M,Silent,Silent,Silent exm141591 1 204966402 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_I963V,Silent,Silent,Silent exm141594 1 204966428 [C/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_I971M,Silent,Silent,Silent rs2802809 1 204969586 [T/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent rs6697344 1 204971485 [A/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent exm141611 1 204971736 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_K1050R,Silent,Silent,Silent rs16854930 1 204974508 [T/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent rs2802841 1 204975735 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent rs2595968 1 204977799 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent exm141619 1 204978703 [T/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_A1103V,Missense_A1037V,Missense_A1032V,Missense_A1052V exm141625 1 204978777 [A/G] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_V1128I,Missense_V1062I,Missense_V1057I,Missense_V1077I rs2794866 1 204988535 [T/C] NM_001005388,NM_001160332,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Silent,Silent,Silent,Silent rs11240341 1 205015284 [T/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 Silent,Silent,Silent rs10900438 1 205019488 [A/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 Silent,Silent,Silent rs9787334 1 205023316 [T/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 Silent,Silent,Silent exm141651 1 205027156 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_A60T,Silent,Missense_A60T exm1747813 1 205027169 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_R64Q,Silent,Missense_R64Q exm141654 1 205027192 [T/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_R72W,Silent,Missense_R72W exm141655 1 205027193 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_R72Q,Silent,Missense_R72Q exm141657 1 205027316 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_M75V,Silent,Missense_M75V rs2275697 1 205027737 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_A145T,Silent,Missense_A145T exm141674 1 205027737 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_A145T,Silent,Missense_A145T exm141675 1 205027790 [A/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Synonymous_P162P,Silent,Synonymous_P162P exm141676 1 205028229 [T/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_L169F,Silent,Missense_L169F rs10793725 1 205028915 [T/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 Silent,Silent,Silent exm141693 1 205030396 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_R274H,Silent,Missense_R274H exm141698 1 205030498 [T/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_A308V,Silent,Missense_A308V exm141700 1 205030522 [T/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_T316I,Silent,Missense_T316I exm141708 1 205031116 [T/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_P366L,Silent,Missense_P366L exm141720 1 205033518 [G/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_L437V,Silent,Missense_L437V exm141726 1 205033764 [A/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_P469T,Silent,Missense_P469T exm141727 1 205033784 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_I475M,Silent,Missense_I475M exm141729 1 205033819 [T/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_T487I,Silent,Missense_T487I exm141733 1 205034267 [A/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_D524E,Silent,Missense_D524E exm141740 1 205034390 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Synonymous_V565V,Silent,Synonymous_V565V exm141743 1 205034959 [T/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_R580C,Silent,Missense_R580C exm141744 1 205034960 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_R580H,Silent,Missense_R580H exm141749 1 205035572 [T/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_P607L,Silent,Missense_P607L exm2273740 1 205035721 [T/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_R657W,Silent,Missense_R657W exm141753 1 205035727 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_N659D,Silent,Missense_N659D exm141754 1 205036239 [A/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_N662K,Silent,Missense_N662K exm141757 1 205036357 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_K702E,Silent,Missense_K702E exm141760 1 205038625 [T/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_S711L,Silent,Missense_S711L exm141763 1 205038648 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_G719R,Silent,Missense_G719R exm141765 1 205038965 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_R736Q,Silent,Missense_R736Q exm141769 1 205039031 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Nonsense_W758X,Silent,Nonsense_W758X exm141770 1 205039032 [T/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_W758C,Silent,Missense_W758C exm141774 1 205039586 [A/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_K822Q,Silent,Missense_K822Q exm141781 1 205041138 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_D870N,Silent,Missense_D870N rs2229868 1 205041158 [T/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Synonymous_S876S,Silent,Synonymous_S876S exm141783 1 205041159 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_G877S,Silent,Missense_G877S exm141788 1 205041241 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_N904S,Silent,Missense_N904S exm141799 1 205042840 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_V1024I,Silent,Missense_V1024I exm141800 1 205042855 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Missense_V1029M,Silent,Missense_V1029M rs16855040 1 205044757 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Silent,Silent,Silent rs1572993 1 205045087 [A/G] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Silent,Silent,Silent rs16855045 1 205046894 [T/C] NM_001346083,NR_144350,NM_005076 CNTN2,CNTN2,CNTN2 EXON Silent,Silent,Silent exm141808 1 205052685 [T/C] NM_203376 TMEM81 EXON Missense_Q255R exm141815 1 205052775 [A/G] NM_203376 TMEM81 EXON Missense_A225V indel.9531 1 205053024 [I/D] NM_203376 TMEM81 EXON exm141830 1 205053070 [T/C] NM_203376 TMEM81 EXON Missense_V127I newrs148879722 1 205053076 [A/G] NM_203376 TMEM81 EXON Nonsense_R125X variant.9533 1 205053087 [T/C] NM_203376 TMEM81 EXON Nonsense_W121X exm141836 1 205053097 [A/G] NM_203376 TMEM81 EXON Missense_R118W exm141838 1 205053130 [T/A] NM_203376 TMEM81 EXON Missense_S107T exm141839 1 205053150 [A/G] NM_203376 TMEM81 EXON Missense_F100S rs16855059 1 205053150 [A/G] NM_203376 TMEM81 EXON Missense_F100S exm141840 1 205053219 [T/C] NM_203376 TMEM81 EXON Missense_R77Q rs4951168 1 205053219 [T/C] NM_203376 TMEM81 EXON Missense_R77Q exm141843 1 205053265 [T/C] NM_203376 TMEM81 EXON Missense_V62I exm141844 1 205053315 [T/C] NM_203376 TMEM81 EXON Missense_N45S rs7520752 1 205054114 [A/G] rs2369526 1 205054406 [T/C] exm141855 1 205064024 [A/G] NM_005057,NM_001193273,NM_001193272 RBBP5,RBBP5,RBBP5 EXON Missense_A522V,Missense_A395V,Silent exm141860 1 205064160 [T/C] NM_005057,NM_001193273,NM_001193272 RBBP5,RBBP5,RBBP5 EXON Missense_G477S,Missense_G350S,Missense_G477S rs11240368 1 205110929 [T/C] rs12089690 1 205111850 [A/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Silent,Silent rs3795556 1 205112911 [T/C] NM_199462,NM_015375 DSTYK,DSTYK EXON Silent,Silent exm141909 1 205116700 [A/C] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_D881Y,Missense_D926Y exm141911 1 205116729 [A/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_S871F,Missense_S916F exm141913 1 205116750 [A/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_I864T,Missense_I909T exm141932 1 205128698 [A/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_R739W,Missense_R739W exm141933 1 205128707 [A/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_R736W,Missense_R736W exm141942 1 205129388 [T/A] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_K653N,Missense_K653N newrs142986970 1 205130386 [A/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_R650C,Missense_R650C exm141944 1 205130413 [A/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_C641R,Missense_C641R exm141951 1 205131207 [T/C] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_R592Q,Missense_R592Q exm141952 1 205131208 [A/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_R592W,Missense_R592W exm141969 1 205138632 [T/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_K328T,Missense_K328T indel.9537 1 205138715 [D/I] NM_199462,NM_015375 DSTYK,DSTYK EXON rs10900461 1 205153208 [T/C] NM_199462,NM_015375 DSTYK,DSTYK Silent,Silent exm141979 1 205156545 [T/C] NM_199462,NM_015375 DSTYK,DSTYK Silent,Silent exm141982 1 205156631 [T/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_E190A,Missense_E190A exm141987 1 205156739 [T/C] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_R154H,Missense_R154H exm141989 1 205156743 [C/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_L153V,Missense_L153V exm142002 1 205180407 [A/T] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_L86Q,Missense_L86Q exm142003 1 205180453 [T/C] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_G71S,Missense_G71S exm142004 1 205180474 [A/G] NM_199462,NM_015375 DSTYK,DSTYK EXON Missense_L64F,Missense_L64F rs7513642 1 205195831 [T/C] exm142026 1 205210709 [A/G] NM_014858,NM_001242925 TMCC2,TMCC2 EXON Missense_R95Q,Missense_R17Q exm2250503 1 205210806 [A/G] NM_014858,NM_001242925 TMCC2,TMCC2 EXON Synonymous_P127P,Synonymous_P49P exm142053 1 205211053 [A/G] NM_014858,NM_001242925 TMCC2,TMCC2 EXON Missense_I210V,Missense_I132V exm142058 1 205211131 [A/G] NM_014858,NM_001242925 TMCC2,TMCC2 EXON Missense_V236M,Missense_V158M exm142062 1 205211155 [A/G] NM_014858,NM_001242925 TMCC2,TMCC2 EXON Missense_E244K,Missense_E166K rs10900473 1 205213883 [T/G] NM_014858,NM_001242925 TMCC2,TMCC2 Silent,Silent rs17417252 1 205216110 [A/G] NM_014858,NM_001242925,NM_001297611 TMCC2,TMCC2,TMCC2 Silent,Silent,Silent rs1172149 1 205224758 [A/G] NM_014858,NM_001242925,NM_001297611 TMCC2,TMCC2,TMCC2 Silent,Silent,Silent rs1172147 1 205225457 [A/G] NM_014858,NM_001242925,NM_001297611,NM_001297613 TMCC2,TMCC2,TMCC2,TMCC2 EXON Silent,Silent,Silent,Silent exm-rs1668873 1 205235990 [A/G] NM_014858,NM_001242925,NM_001297611,NM_001297613,NM_001331034 TMCC2,TMCC2,TMCC2,TMCC2,TMCC2 Silent,Silent,Silent,Silent,Silent rs1668871 1 205237137 [T/C] NM_014858,NM_001242925,NM_001297611,NM_001297613,NM_001331034 TMCC2,TMCC2,TMCC2,TMCC2,TMCC2 Silent,Silent,Silent,Silent,Silent exm142113 1 205240262 [A/G] NM_014858,NM_001242925,NM_001297611,NM_001297613,NM_001331034 TMCC2,TMCC2,TMCC2,TMCC2,TMCC2 EXON Missense_E566G,Missense_E488G,Missense_E341G,Missense_E326G,Missense_E371G rs9660992 1 205249450 [A/G] rs1172127 1 205257447 [A/G] exm142146 1 205272732 [A/G] NM_030952 NUAK2 EXON Missense_T622M exm142153 1 205272862 [A/G] NM_030952 NUAK2 EXON Missense_R579W exm142158 1 205272918 [A/G] NM_030952 NUAK2 EXON Missense_A560V rs1106201 1 205272926 [T/C] NM_030952 NUAK2 EXON Synonymous_L557L exm142160 1 205272949 [T/C] NM_030952 NUAK2 EXON Missense_G550S exm142162 1 205272973 [A/G] NM_030952 NUAK2 EXON Missense_R542C exm142175 1 205273107 [T/C] NM_030952 NUAK2 EXON Missense_R497Q exm2250504 1 205277781 [T/C] NM_030952 NUAK2 EXON Synonymous_R188R exm142219 1 205277786 [T/C] NM_030952 NUAK2 EXON Missense_E187K exm142227 1 205277843 [T/G] NM_030952 NUAK2 EXON Missense_K168Q exm142236 1 205280934 [T/C] NM_030952 NUAK2 EXON Missense_R128Q rs12074332 1 205284082 [T/C] NM_030952 NUAK2 Silent exm142242 1 205290546 [A/G] NM_030952 NUAK2 EXON Missense_R115W exm142250 1 205290717 [A/G] NM_030952 NUAK2 EXON Missense_P58S rs11240414 1 205292420 [T/C] rs10900479 1 205305048 [A/C] exm142258 1 205306592 [T/C] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_A330T,Missense_A330T,Missense_A330T,Missense_A330T exm142261 1 205306609 [A/C] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_V324G,Missense_V324G,Missense_V324G,Missense_V324G exm142276 1 205307703 [T/C] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_R260Q,Missense_R260Q,Missense_R260Q,Missense_R260Q var_1_205307722 1 205307722 [A/C] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Nonsense_G254X,Nonsense_G254X,Nonsense_G254X,Nonsense_G254X exm142281 1 205308351 [T/C] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_R243Q,Missense_R243Q,Missense_R243Q,Missense_R243Q exm142284 1 205308370 [A/G] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_R237W,Missense_R237W,Missense_R237W,Missense_R237W exm142287 1 205308411 [T/C] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_H223R,Missense_H223R,Missense_H223R,Missense_H223R exm142296 1 205308778 [T/C] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_V179M,Missense_V179M,Missense_V179M,Missense_V179M exm1748009 1 205308785 [A/C] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_K176N,Missense_K176N,Missense_K176N,Missense_K176N exm142311 1 205312438 [T/C] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_M99V,Missense_M99V,Missense_M99V,Missense_M99V exm142319 1 205312566 [A/G] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_A56V,Missense_A56V,Missense_A56V,Missense_A56V rs4951199 1 205313647 [T/G] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A Silent,Silent,Silent,Silent exm2250505 1 205318321 [T/C] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A Silent,Silent,Silent,Silent rs10751435 1 205318321 [T/C] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A Silent,Silent,Silent,Silent rs913722 1 205318983 [T/C] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A Silent,Silent,Silent,Silent rs7516786 1 205322091 [A/C] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A Silent,Silent,Silent,Silent rs2864859 1 205322809 [T/C] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A Silent,Silent,Silent,Silent rs2864860 1 205322934 [T/C] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A Silent,Silent,Silent,Silent rs2183230 1 205324725 [A/G] NM_018203,NM_001271863,NM_001271864,NM_001271865 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A Silent,Silent,Silent,Silent rs6676552 1 205336875 [T/C] rs6661074 1 205339119 [A/G] rs6664679 1 205340269 [A/G] rs12402771 1 205343648 [A/G] NR_038425 LEMD1-AS1 Silent exm142334 1 205353492 [A/C] NR_038425,NM_001199052,NR_037583,NM_001001552,NM_001199051,NM_001199050 LEMD1-AS1,LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Silent,Silent,Silent,Silent,Missense_W50G,Missense_W91G rs11581020 1 205354073 [A/G] NR_038425,NM_001199052,NR_037583,NM_001001552,NM_001199051,NM_001199050 LEMD1-AS1,LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 Silent,Silent,Silent,Silent,Silent,Silent rs11240466 1 205358622 [A/G] NM_001199052,NR_037583,NM_001001552,NM_001199051,NM_001199050 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 Silent,Silent,Silent,Silent,Silent rs17346510 1 205358741 [T/C] NM_001199052,NR_037583,NM_001001552,NM_001199051,NM_001199050 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 Silent,Silent,Silent,Silent,Silent rs6421773 1 205377069 [T/G] NM_001199052,NR_037583,NM_001001552,NM_001199051,NM_001199050 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 Silent,Silent,Silent,Silent,Silent rs7533222 1 205377965 [T/C] NM_001199052,NR_037583,NM_001001552,NM_001199051,NM_001199050 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 Silent,Silent,Silent,Silent,Silent rs17346622 1 205384781 [T/C] NM_001199052,NR_037583,NM_001001552,NM_001199051,NM_001199050 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 Silent,Silent,Silent,Silent,Silent exm142336 1 205385412 [A/G] NM_001199052,NR_037583,NM_001001552,NM_001199051,NM_001199050 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Silent,Silent,Silent,Missense_I32T,Missense_I73T exm142341 1 205388384 [C/G] NM_001199052,NR_037583,NM_001001552,NM_001199051,NM_001199050 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Silent,Silent,Missense_G60A,Silent,Missense_G60A exm142345 1 205388448 [T/C] NM_001199052,NR_037583,NM_001001552,NM_001199051,NM_001199050 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Silent,Silent,Missense_V39I,Silent,Missense_V39I variant.9557 1 205389583 [A/G] NM_001199052,NR_037583,NM_001001552,NM_001199051,NM_001199050 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Missense_R28C,Silent,Missense_P28S,Nonsense_Q28X,Missense_P28S exm142351 1 205389592 [A/G] NM_001199052,NR_037583,NM_001001552,NM_001199051,NM_001199050 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Missense_P25S,Silent,Missense_P25S,Missense_P25S,Missense_P25S var_1_205389628 1 205389628 [A/G] NM_001199052,NR_037583,NM_001001552,NM_001199051,NM_001199050 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Nonsense_Q13X,Silent,Nonsense_Q13X,Nonsense_Q13X,Nonsense_Q13X rs10900490 1 205404878 [T/C] NR_103783 BLACAT1 EXON Silent rs1999131 1 205418134 [A/G] NR_103783 BLACAT1 Silent rs1109953 1 205442194 [T/C] rs4951226 1 205451659 [T/C] rs7555999 1 205455368 [T/C] rs6681714 1 205468289 [T/C] rs1538365 1 205472184 [T/C] exm-rs16855698 1 205483124 [T/C] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 Silent,Silent,Silent rs11240503 1 205484073 [A/G] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 Silent,Silent,Silent newrs74876058 1 205492343 [A/G] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON Synonymous_S16S,Synonymous_S16S,Synonymous_S16S exm142359 1 205492387 [T/C] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON Missense_T31M,Missense_T31M,Missense_T31M exm142361 1 205492413 [T/C] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON Missense_R40W,Missense_R40W,Missense_R40W exm142362 1 205492417 [A/G] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON Missense_R41Q,Missense_R41Q,Missense_R41Q exm142366 1 205492622 [A/G] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON Missense_G48S,Missense_G48S,Missense_G48S exm142369 1 205492679 [A/G] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON Missense_G67R,Missense_G67R,Missense_G67R exm142375 1 205492797 [T/C] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON Silent,Missense_T106M,Silent exm142381 1 205493462 [A/C] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON Missense_R126S,Missense_R156S,Missense_R126S indel.9565 1 205494289 [I/D] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON exm142391 1 205495233 [T/C] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON Missense_T166M,Missense_T196M,Missense_T166M exm142407 1 205496943 [T/C] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON Missense_R251W,Missense_R281W,Missense_R251W exm142416 1 205497202 [A/C] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON Missense_T294P,Missense_T324P,Missense_T294P exm142421 1 205498159 [G/C] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON Missense_T336R,Missense_T366R,Missense_T336R exm142425 1 205498475 [T/C] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON Missense_P366S,Missense_P396S,Missense_P366S exm142427 1 205498647 [A/G] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 Silent,Silent,Silent exm142435 1 205499478 [A/G] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 Silent,Silent,Silent rs12035825 1 205499495 [A/G] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 Silent,Silent,Silent exm142441 1 205499777 [A/G] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON Missense_K445R,Missense_K475R,Missense_K445R exm142445 1 205500475 [A/G] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON Missense_R465Q,Missense_R495Q,Missense_R465Q exm1748068 1 205500478 [A/G] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON Missense_G466E,Missense_G496E,Missense_G466E rs14028 1 205501521 [A/G] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON Silent,Silent,Silent rs8027 1 205501843 [A/G] NM_212502,NM_212503,NM_002596 CDK18,CDK18,CDK18 EXON Silent,Silent,Silent rs12751472 1 205510242 [T/C] rs12041365 1 205510376 [A/G] rs10900509 1 205515921 [T/C] rs12035608 1 205541515 [A/C] NM_181644 MFSD4A Silent rs1891506 1 205543862 [A/G] NM_181644 MFSD4A Silent exm142459 1 205548956 [A/G] NM_181644 MFSD4A EXON Missense_R103H exm142472 1 205549933 [A/G] NM_181644 MFSD4A EXON Missense_G192S exm142473 1 205549945 [A/G] NM_181644 MFSD4A EXON Missense_V196I rs7523059 1 205550898 [A/G] NM_181644 MFSD4A Silent rs7531623 1 205555145 [A/G] NM_181644 MFSD4A Silent rs6593954 1 205556426 [T/C] NM_181644 MFSD4A Silent rs6677703 1 205558976 [A/G] NM_181644 MFSD4A Silent rs7529077 1 205561372 [T/C] NM_181644 MFSD4A EXON Synonymous_F418F rs7553871 1 205562202 [A/G] NM_181644 MFSD4A Silent rs3795550 1 205563162 [T/C] NM_181644 MFSD4A Silent rs2282449 1 205568213 [T/C] NM_181644 MFSD4A Silent exm142509 1 205568301 [A/G] NM_181644 MFSD4A EXON Missense_V471M indel.9574 1 205568371 [D/I] NM_181644 MFSD4A EXON rs3789461 1 205588637 [T/C] NM_001973,NM_021795 ELK4,ELK4 EXON Silent,Silent exm142527 1 205589075 [T/C] NM_001973,NM_021795 ELK4,ELK4 EXON Silent,Missense_M367V exm142534 1 205589237 [T/C] NM_001973,NM_021795 ELK4,ELK4 EXON Missense_V313I,Missense_V313I exm142550 1 205589455 [A/G] NM_001973,NM_021795 ELK4,ELK4 EXON Missense_T240I,Missense_T240I exm1748104 1 205589788 [A/G] NM_001973,NM_021795 ELK4,ELK4 EXON Missense_P129L,Missense_P129L exm142578 1 205592925 [T/C] NM_001973,NM_021795 ELK4,ELK4 EXON Missense_N29S,Missense_N29S rs6593958 1 205602553 [A/G] rs11579421 1 205607227 [T/C] rs12039255 1 205609010 [T/C] rs6661827 1 205610774 [T/C] exm142591 1 205628442 [T/C] NM_033102 SLC45A3 EXON Missense_A528T exm142595 1 205628550 [C/G] NM_033102 SLC45A3 EXON Missense_L492V exm142597 1 205628568 [A/G] NM_033102 SLC45A3 EXON Missense_R486W exm142599 1 205628573 [A/G] NM_033102 SLC45A3 EXON Missense_P484L exm142605 1 205628616 [T/C] NM_033102 SLC45A3 EXON Missense_V470I exm142608 1 205628648 [A/G] NM_033102 SLC45A3 EXON Missense_A459V exm142615 1 205628780 [T/C] NM_033102 SLC45A3 EXON Missense_R415Q exm142623 1 205631084 [T/C] NM_033102 SLC45A3 EXON Missense_V377M exm142626 1 205631132 [T/C] NM_033102 SLC45A3 EXON Missense_A361T exm142632 1 205631176 [A/C] NM_033102 SLC45A3 EXON Missense_V346G exm142638 1 205631965 [T/A] NM_033102 SLC45A3 EXON Missense_D318E exm142642 1 205632033 [T/C] NM_033102 SLC45A3 EXON Missense_V296M exm142647 1 205632093 [T/C] NM_033102 SLC45A3 EXON Missense_V276M exm1748119 1 205632094 [A/G] NM_033102 SLC45A3 EXON Synonymous_F275F exm142668 1 205632458 [A/G] NM_033102 SLC45A3 EXON Missense_P154L exm142670 1 205632582 [C/G] NM_033102 SLC45A3 EXON Missense_L113V exm142673 1 205632663 [A/G] NM_033102 SLC45A3 EXON Missense_R86W rs11240547 1 205632932 [A/G] NM_033102 SLC45A3 Silent exm142681 1 205633685 [T/C] NM_033102 SLC45A3 EXON Missense_A34T exm1748128 1 205633751 [A/G] NM_033102 SLC45A3 EXON Missense_R12W rs1775147 1 205648707 [T/G] NM_033102 SLC45A3 Silent rs1172198 1 205662718 [A/G] rs6676110 1 205662977 [A/G] exm-rs12748961 1 205676263 [T/C] rs16856186 1 205678126 [T/G] rs10900522 1 205684067 [T/C] NM_022731 NUCKS1 EXON Silent rs1772145 1 205695695 [T/C] NM_022731 NUCKS1 Silent rs823128 1 205713378 [A/G] NM_022731 NUCKS1 Silent exm-rs823128 1 205713378 [A/G] NM_022731 NUCKS1 Silent rs823136 1 205738251 [A/C] NM_001135662,NM_003929,NM_001135664,NM_001135663 RAB29,RAB29,RAB29,RAB29 EXON Silent,Silent,Silent,Silent exm142718 1 205739558 [T/C] NM_001135662,NM_003929,NM_001135664,NM_001135663 RAB29,RAB29,RAB29,RAB29 EXON Missense_R175K,Missense_R175K,Missense_R103K,Missense_R151K exm142720 1 205739907 [T/G] NM_001135662,NM_003929,NM_001135664,NM_001135663 RAB29,RAB29,RAB29,RAB29 EXON Missense_T152P,Missense_T152P,Missense_T80P,Missense_T128P variant.9582 1 205740599 [T/C] NM_001135662,NM_003929,NM_001135664,NM_001135663 RAB29,RAB29,RAB29,RAB29 Silent,Silent,Silent,Silent exm142728 1 205740668 [G/C] NM_001135662,NM_003929,NM_001135664,NM_001135663 RAB29,RAB29,RAB29,RAB29 EXON Missense_Q104E,Missense_Q104E,Missense_Q32E,Missense_Q80E rs10900524 1 205748309 [A/G] exm-rs947211 1 205752665 [A/G] rs12565968 1 205755046 [A/G] rs823154 1 205762406 [T/C] NM_173854 SLC41A1 Silent exm142747 1 205764035 [A/G] NM_173854 SLC41A1 EXON Missense_I440T exm-rs823156 1 205764640 [A/G] NM_173854 SLC41A1 Silent exm142765 1 205767816 [A/C] NM_173854 SLC41A1 EXON Missense_W275C rs823066 1 205771173 [A/G] NM_173854 SLC41A1 Silent exm2259935 1 205773652 [T/C] NM_173854 SLC41A1 Silent rs708730 1 205777780 [A/G] NM_173854 SLC41A1 Silent exm142793 1 205779431 [T/C] NM_173854 SLC41A1 EXON Missense_V47I exm142801 1 205779542 [T/C] NM_173854 SLC41A1 EXON Missense_V10I exm2273741 1 205779560 [T/C] NM_173854 SLC41A1 EXON Missense_K4E exm2250506 1 205792836 [T/C] rs823088 1 205794175 [T/C] exm142809 1 205797858 [T/G] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_N467H,Silent exm142814 1 205799454 [A/T] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_I447F,Silent indel.9589 1 205801858 [I/D] NM_152491,NR_135186 PM20D1,PM20D1 EXON exm142825 1 205801872 [A/G] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_I380T,Silent rs1361754 1 205801872 [A/G] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_I380T,Silent exm142827 1 205801881 [A/G] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_T377M,Silent rs6694490 1 205806179 [T/C] NM_152491,NR_135186 PM20D1,PM20D1 Silent,Silent exm142830 1 205810947 [T/C] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_G346R,Silent variant.9590 1 205811305 [T/C] NM_152491,NR_135186 PM20D1,PM20D1 EXON Nonsense_W314X,Silent exm142840 1 205811865 [T/G] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_P281Q,Silent exm142841 1 205812795 [T/C] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_R276Q,Silent exm142843 1 205812879 [A/G] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_M248T,Silent exm142845 1 205812912 [A/G] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_I237T,Silent exm142851 1 205813270 [T/C] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_E218K,Silent exm142860 1 205813329 [T/G] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_A198D,Silent exm142861 1 205813330 [T/C] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_A198T,Silent exm142862 1 205813976 [T/C] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_R180Q,Silent exm142865 1 205813995 [A/T] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_I174F,Silent exm142867 1 205814470 [T/C] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_D158N,Silent rs1104899 1 205814485 [A/G] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_R153W,Silent exm142869 1 205814485 [A/G] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_R153W,Silent exm142870 1 205814497 [T/C] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_I149V,Silent exm142876 1 205814644 [A/C] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_V100F,Silent rs7517009 1 205815992 [T/C] NM_152491,NR_135186 PM20D1,PM20D1 Silent,Silent rs1539394 1 205817574 [T/C] NM_152491,NR_135186 PM20D1,PM20D1 Silent,Silent rs11540014 1 205819104 [A/G] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_H33Y,Silent exm142893 1 205819116 [T/C] NM_152491,NR_135186 PM20D1,PM20D1 EXON Missense_R29G,Silent rs7364618 1 205857654 [A/G] NR_046097 LOC284581 Silent rs7365031 1 205867013 [T/C] exm142898 1 205884039 [A/G] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_V882A,Silent exm142906 1 205884138 [T/C] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_R849Q,Silent exm142917 1 205884274 [T/C] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_R804G,Silent exm142918 1 205884282 [T/G] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_Y801S,Silent exm2232347 1 205884492 [A/G] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_A790V,Missense_A790V exm142923 1 205884508 [T/C] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_A785T,Missense_A785T exm142936 1 205887981 [T/C] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_H748R,Missense_H748R exm142937 1 205887994 [T/C] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_V744M,Missense_V744M exm142964 1 205890932 [A/G] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_P606L,Missense_P606L rs9438439 1 205891636 [T/C] NM_134325,NM_052934 SLC26A9,SLC26A9 Silent,Silent variant.9603 1 205892210 [T/C] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Synonymous_K591K,Synonymous_K591K exm142970 1 205892250 [T/C] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_R578K,Missense_R578K exm142971 1 205892259 [T/C] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_R575Q,Missense_R575Q exm142972 1 205892260 [A/G] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_R575W,Missense_R575W exm142978 1 205892736 [T/C] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_N501S,Missense_N501S exm142979 1 205893512 [A/G] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_F499L,Missense_F499L exm142991 1 205895703 [T/G] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_T450N,Missense_T450N rs11240594 1 205896235 [A/G] NM_134325,NM_052934 SLC26A9,SLC26A9 Silent,Silent exm-rs11240594 1 205896235 [A/G] NM_134325,NM_052934 SLC26A9,SLC26A9 Silent,Silent exm142994 1 205896395 [G/C] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_L413V,Missense_L413V rs3811424 1 205896948 [A/G] NM_134325,NM_052934 SLC26A9,SLC26A9 Silent,Silent exm1748281 1 205897047 [T/C] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_D362N,Missense_D362N exm143005 1 205897104 [T/C] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_V343M,Missense_V343M exm1748283 1 205897130 [A/G] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_I334T,Missense_I334T exm143024 1 205898454 [A/G] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_H250Y,Missense_H250Y rs7555185 1 205899708 [A/G] NM_134325,NM_052934 SLC26A9,SLC26A9 Silent,Silent exm143036 1 205901026 [T/C] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_V172M,Missense_V172M exm143038 1 205901061 [A/G] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_V160A,Missense_V160A exm2250508 1 205901102 [T/C] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Synonymous_S146S,Synonymous_S146S exm143042 1 205901152 [T/C] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_V130I,Missense_V130I exm143054 1 205902109 [T/C] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_G77S,Missense_G77S exm143055 1 205902130 [A/T] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_Y70N,Missense_Y70N exm143062 1 205904888 [T/C] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_D21N,Missense_D21N exm143066 1 205904942 [C/G] NM_134325,NM_052934 SLC26A9,SLC26A9 EXON Missense_Q3E,Missense_Q3E rs7555534 1 205908867 [T/C] NM_134325,NM_052934 SLC26A9,SLC26A9 Silent,Silent rs7415921 1 205910883 [T/G] NM_134325,NM_052934 SLC26A9,SLC26A9 Silent,Silent rs4951271 1 205913848 [A/G] rs4077469 1 205914885 [T/C] kgp3891198 1 205915944 [T/C] rs12095392 1 205916017 [A/G] rs28706615 1 206214242 [A/G] exm2232349 1 206224453 [T/C] NM_000707 AVPR1B EXON Missense_P5S exm1748311 1 206224469 [A/G] NM_000707 AVPR1B EXON Missense_N10S exm143079 1 206224480 [T/C] NM_000707 AVPR1B EXON Missense_R14W exm143091 1 206224657 [A/G] NM_000707 AVPR1B EXON Missense_V73M exm143093 1 206224691 [T/C] NM_000707 AVPR1B EXON Missense_A84V exm143099 1 206224804 [T/A] NM_000707 AVPR1B EXON Missense_T122S exm143105 1 206224854 [A/C] NM_000707 AVPR1B EXON Missense_H138Q exm143109 1 206224999 [T/C] NM_000707 AVPR1B EXON Missense_W187R exm143110 1 206225011 [C/G] NM_000707 AVPR1B EXON Missense_G191R exm143120 1 206225239 [A/G] NM_000707 AVPR1B EXON Missense_S267G exm143121 1 206225261 [A/G] NM_000707 AVPR1B EXON Missense_R274Q exm143126 1 206225341 [G/C] NM_000707 AVPR1B EXON Missense_Q301E exm143128 1 206225377 [A/G] NM_000707 AVPR1B EXON Missense_E313K exm143130 1 206230844 [T/C] NM_000707 AVPR1B EXON Missense_L326S rs33985287 1 206231259 [A/G] NM_000707 AVPR1B EXON Silent rs33933482 1 206231264 [A/G] NM_000707 AVPR1B EXON Silent exm143158 1 206239549 [T/C] NM_001007544 RHEX EXON Missense_V117I exm143161 1 206240169 [A/C] NM_001007544 RHEX EXON Missense_L95V variant.9610 1 206240197 [T/C] NM_001007544 RHEX Silent exm143164 1 206241553 [A/G] NM_001007544 RHEX EXON Missense_M79T exm143170 1 206241650 [T/C] NM_001007544 RHEX EXON Missense_A47T newrs113345311 1 206243599 [T/C] NM_001007544 RHEX Silent rs28689766 1 206243870 [T/G] NM_001007544 RHEX Silent rs28735054 1 206256359 [A/G] NM_001007544 RHEX Silent rs28420808 1 206257802 [A/C] NM_001007544 RHEX Silent exm2265075 1 206302435 [A/G] rs28619955 1 206315933 [A/G] exm143185 1 206317643 [A/T] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Missense_R23W,Silent,Missense_R23W exm143191 1 206318351 [T/C] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Missense_R37W,Silent,Missense_R37W exm143193 1 206318365 [T/G] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Missense_Q41H,Silent,Missense_Q41H variant.9613 1 206318472 [A/G] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE Silent,Silent,Silent exm143219 1 206320300 [T/C] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Missense_I148T,Missense_I73T,Missense_I148T variant.9615 1 206320320 [A/G] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE Silent,Silent,Silent exm143225 1 206325253 [A/G] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Missense_V160M,Missense_V85M,Missense_V160M exm143226 1 206325259 [A/G] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Missense_G162S,Missense_G87S,Missense_G162S exm1748349 1 206325277 [A/G] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Missense_S168G,Missense_S93G,Missense_S168G exm143227 1 206325337 [A/G] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Missense_G188R,Missense_G113R,Missense_G188R indel.9616 1 206325345 [I/D] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON rs28410805 1 206326498 [A/G] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE Silent,Silent,Silent exm143239 1 206327553 [T/G] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Missense_V248F,Missense_V173F,Missense_V248F exm143244 1 206327598 [T/C] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE Silent,Silent,Silent var_1_206327601 1 206327601 [A/G] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE Silent,Silent,Silent exm143246 1 206328753 [A/G] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Silent,Silent,Missense_E274K exm1748358 1 206328835 [T/C] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Silent,Silent,Missense_I301T exm143252 1 206328987 [A/G] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Missense_T271A,Missense_T196A,Missense_N318S exm143254 1 206329051 [T/C] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Missense_T292I,Missense_T217I,Synonymous_Y339Y exm1748365 1 206329053 [A/C] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Missense_P293T,Missense_P218T,Missense_T340N exm143255 1 206331027 [A/G] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Synonymous_S297S,Synonymous_S222S,Missense_V345M exm2277019 1 206331157 [G/C] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Missense_V341L,Missense_V266L,Missense_R388P exm143263 1 206331169 [T/C] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Missense_P345S,Missense_P270S,Missense_A392V exm143265 1 206331190 [A/G] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Missense_G352R,Missense_G277R,Silent exm143266 1 206331193 [T/C] NM_148964,NM_001317331,NM_001910 CTSE,CTSE,CTSE EXON Missense_P353S,Missense_P278S,Silent kgp25293451 1 206496874 [T/C] exm143274 1 206516335 [T/C] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 EXON Nonsense_R46X,Nonsense_R46X,Nonsense_R46X exm143276 1 206516364 [T/C] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 Silent,Silent,Silent exm143290 1 206566940 [T/C] NM_015326,NM_001300952,NM_001170637,NR_120535 SRGAP2,SRGAP2,SRGAP2,SRGAP2D EXON Nonsense_Q161X,Nonsense_Q161X,Nonsense_Q161X,Silent rs2244510 1 206595069 [T/C] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 Silent,Silent,Silent rs12060726 1 206595436 [A/G] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 Silent,Silent,Silent exm143308 1 206603535 [A/G] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 EXON Missense_G420S,Missense_G419S,Missense_G419S rs2297539 1 206603535 [A/G] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 EXON Missense_G420S,Missense_G419S,Missense_G419S rs2336938 1 206618799 [A/C] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 Silent,Silent,Silent exm143319 1 206619478 [T/C] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 EXON Missense_R558W,Missense_R557W,Missense_R557W exm143320 1 206619487 [A/G] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 EXON Missense_A561T,Missense_A560T,Missense_A560T exm143322 1 206619502 [A/G] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 EXON Missense_R566G,Missense_R565G,Missense_R565G exm143323 1 206619526 [T/C] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 EXON Missense_P574S,Missense_P573S,Missense_P573S exm2232353 1 206623737 [T/C] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 EXON Missense_P616S,Missense_P615S,Missense_P615S exm143331 1 206623786 [A/G] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 EXON Missense_R632H,Missense_R631H,Missense_R631H exm143332 1 206623809 [T/C] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 EXON Nonsense_R640X,Nonsense_R639X,Nonsense_R639X rs2483060 1 206623952 [T/C] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 Silent,Silent,Silent exm143334 1 206626547 [A/G] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 EXON Missense_M641V,Missense_M640V,Missense_M640V exm143335 1 206626559 [T/C] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 EXON Nonsense_R645X,Nonsense_R644X,Nonsense_R644X exm143340 1 206626607 [A/G] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 EXON Missense_V661I,Missense_V660I,Missense_V660I rs12130290 1 206627177 [A/G] NM_015326,NM_001300952,NM_001170637 SRGAP2,SRGAP2,SRGAP2 Silent,Silent,Silent rs3813982 1 206629674 [A/G] NM_015326,NM_001170637 SRGAP2,SRGAP2 Silent,Silent exm143361 1 206634405 [A/G] NM_015326,NM_001170637 SRGAP2,SRGAP2 EXON Missense_G866S,Missense_G865S exm143363 1 206634429 [A/G] NM_015326,NM_001170637 SRGAP2,SRGAP2 EXON Missense_R874G,Missense_R873G exm143367 1 206634463 [A/G] NM_015326,NM_001170637 SRGAP2,SRGAP2 EXON Missense_R885H,Missense_R884H exm143375 1 206634610 [A/G] NM_015326,NM_001170637 SRGAP2,SRGAP2 EXON Missense_R934H,Missense_R933H exm143380 1 206634648 [A/G] NM_015326,NM_001170637 SRGAP2,SRGAP2 EXON Missense_G947S,Missense_G946S exm143382 1 206634709 [T/C] NM_015326,NM_001170637 SRGAP2,SRGAP2 EXON Missense_P967L,Missense_P966L rs1930438 1 206643106 [T/C] exm143402 1 206647800 [A/G] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_A72T,Missense_A72T,Silent exm143407 1 206648217 [T/C] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_R80W,Missense_R80W,Silent rs11117909 1 206649952 [A/G] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE Silent,Silent,Silent exm143428 1 206650040 [A/G] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_R187Q,Missense_R187Q,Missense_R102Q rs2297545 1 206651107 [A/G] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Synonymous_T239T,Synonymous_T239T,Synonymous_T154T exm143458 1 206652404 [A/G] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_A371T,Missense_A371T,Missense_A286T exm143459 1 206652423 [A/G] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_S377N,Missense_S377N,Missense_S292N exm143463 1 206652475 [T/C] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Synonymous_D394D,Synonymous_D394D,Synonymous_D309D exm143470 1 206653368 [A/G] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_V418M,Missense_V418M,Missense_V333M exm143476 1 206653438 [A/G] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_R441Q,Missense_R441Q,Missense_R356Q exm143479 1 206653842 [T/C] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_L465F,Missense_L465F,Missense_L380F exm143482 1 206653876 [A/G] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_R476K,Missense_R476K,Missense_R391K rs10863389 1 206656292 [T/C] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE Silent,Silent,Silent exm143486 1 206658354 [T/C] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_T483M,Missense_T483M,Missense_T398M exm143492 1 206658572 [C/G] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_E515D,Missense_E515D,Missense_E430D exm143493 1 206658621 [T/G] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_D532Y,Missense_D532Y,Missense_D447Y exm143495 1 206661263 [T/G] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_I543M,Missense_I543M,Missense_I458M exm143506 1 206665036 [A/G] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_V597M,Missense_V597M,Missense_V512M exm143507 1 206665039 [A/C] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_Q598K,Missense_Q598K,Missense_Q513K rs12059562 1 206665052 [T/C] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_A602V,Missense_A602V,Missense_A517V exm143508 1 206665052 [T/C] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_A602V,Missense_A602V,Missense_A517V exm143524 1 206666377 [A/C] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_N619K,Missense_N619K,Missense_N534K exm143531 1 206667306 [A/G] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_N700S,Silent,Missense_N615S rs4844539 1 206668239 [A/G] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE Silent,Silent,Silent exm143535 1 206669465 [T/C] NM_014002,NM_001193322,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_P713L,Silent,Missense_P628L rs3860295 1 206676331 [A/G] exm143549 1 206681383 [T/C] NM_182664,NM_182663 RASSF5,RASSF5 EXON Missense_R150C,Missense_R150C rs874718 1 206684977 [A/C] NM_182664,NM_182663 RASSF5,RASSF5 Silent,Silent rs7523985 1 206709535 [T/G] NM_182664,NM_182663 RASSF5,RASSF5 Silent,Silent exm143555 1 206711608 [A/G] NM_182664,NM_182663 RASSF5,RASSF5 EXON Missense_V189M,Missense_V189M rs9661909 1 206714818 [T/C] NM_182664,NM_182663 RASSF5,RASSF5 Silent,Silent rs11119009 1 206720225 [A/G] NM_182664,NM_182663 RASSF5,RASSF5 Silent,Silent rs12569261 1 206727260 [A/G] NM_182664,NM_182663 RASSF5,RASSF5 Silent,Silent rs6669685 1 206734044 [T/C] NM_182664,NM_182663,NM_182665 RASSF5,RASSF5,RASSF5 Silent,Silent,Silent rs4844540 1 206736573 [A/G] NM_182664,NM_182663,NM_182665 RASSF5,RASSF5,RASSF5 Silent,Silent,Silent rs10779478 1 206744191 [T/C] NM_182664,NM_182663,NM_182665 RASSF5,RASSF5,RASSF5 Silent,Silent,Silent rs7512541 1 206748424 [T/C] NM_182664,NM_182663,NM_182665 RASSF5,RASSF5,RASSF5 Silent,Silent,Silent exm143564 1 206757768 [T/G] NM_182664,NM_182663,NM_182665 RASSF5,RASSF5,RASSF5 EXON Missense_R247L,Missense_R247L,Missense_R94L exm143570 1 206757849 [T/C] NM_182664,NM_182663,NM_182665 RASSF5,RASSF5,RASSF5 EXON Missense_T274M,Missense_T274M,Missense_T121M rs4240840 1 206759622 [A/G] NM_182664,NM_182663,NM_182665 RASSF5,RASSF5,RASSF5 Silent,Silent,Silent rs7531197 1 206759864 [T/C] NM_182664,NM_182663,NM_182665 RASSF5,RASSF5,RASSF5 Silent,Silent,Silent variant.9632 1 206760189 [A/C] NM_182664,NM_182663,NM_182665 RASSF5,RASSF5,RASSF5 EXON Silent,Missense_N379T,Missense_N226T rs11584983 1 206769047 [T/C] NM_001201478,NM_006893 EIF2D,EIF2D Silent,Silent variant.9634 1 206770445 [A/G] NM_001201478,NM_006893 EIF2D,EIF2D Silent,Silent exm143607 1 206770544 [C/G] NM_001201478,NM_006893 EIF2D,EIF2D EXON Missense_L308V,Missense_L432V exm143610 1 206772388 [T/C] NM_001201478,NM_006893 EIF2D,EIF2D EXON Missense_K297E,Missense_K421E rs4845116 1 206772753 [A/G] NM_001201478,NM_006893 EIF2D,EIF2D Silent,Silent variant.9636 1 206772944 [A/C] NM_001201478,NM_006893 EIF2D,EIF2D EXON Nonsense_E235X,Nonsense_E359X variant.9638 1 206773148 [A/G] NM_001201478,NM_006893 EIF2D,EIF2D EXON Nonsense_Q207X,Nonsense_Q331X exm143622 1 206773157 [T/G] NM_001201478,NM_006893 EIF2D,EIF2D EXON Missense_Q204K,Missense_Q328K variant.9639 1 206773612 [T/C] NM_001201478,NM_006893 EIF2D,EIF2D Silent,Silent exm143628 1 206773658 [T/C] NM_001201478,NM_006893 EIF2D,EIF2D EXON Missense_E179K,Missense_E303K rs6658181 1 206776097 [A/G] NM_001201478,NM_006893 EIF2D,EIF2D Silent,Silent exm143642 1 206776460 [A/G] NM_001201478,NM_006893 EIF2D,EIF2D EXON Silent,Missense_T210I exm143652 1 206781634 [T/A] NM_001201478,NM_006893 EIF2D,EIF2D EXON Missense_Q126L,Missense_Q126L indel.9641 1 206784666 [I/D] NM_001201478,NM_006893 EIF2D,EIF2D EXON exm143658 1 206784681 [T/C] NM_001201478,NM_006893 EIF2D,EIF2D EXON Missense_T35A,Missense_T35A rs6681092 1 206788556 [T/C] rs4497204 1 206790076 [A/G] rs6659397 1 206796165 [T/C] rs4845119 1 206796179 [A/G] rs7549114 1 206803101 [A/G] exm143674 1 206811042 [A/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_K22R,Missense_K42R indel.9643 1 206811053 [I/D] NM_001004023,NM_003582 DYRK3,DYRK3 EXON variant.9644 1 206811106 [T/C] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Synonymous_N43N,Synonymous_N63N rs6540512 1 206813737 [A/G] NM_001004023,NM_003582 DYRK3,DYRK3 Silent,Silent exm1748508 1 206820790 [T/A] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_M63L,Missense_M83L exm143676 1 206820793 [A/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_K64E,Missense_K84E exm143679 1 206821032 [T/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_I143M,Missense_I163M var_1_206821147 1 206821147 [T/C] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Nonsense_R182X,Nonsense_R202X exm143685 1 206821238 [A/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_R212Q,Missense_R232Q exm143689 1 206821285 [T/C] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_R228C,Missense_R248C exm143690 1 206821286 [A/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_R228H,Missense_R248H exm143701 1 206821480 [T/C] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_R293C,Missense_R313C exm143703 1 206821533 [T/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_K310N,Missense_K330N exm143718 1 206821856 [A/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_R418H,Missense_R438H indel.9646 1 206821857 [I/D] NM_001004023,NM_003582 DYRK3,DYRK3 EXON exm143721 1 206821952 [A/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_R450H,Missense_R470H indel.9648 1 206822248 [I/D] NM_001004023,NM_003582 DYRK3,DYRK3 EXON exm143726 1 206822264 [A/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_N554S,Missense_N574S rs10863766 1 206825605 [T/C] rs7512726 1 206832961 [T/C] rs12140926 1 206835985 [T/C] rs17014035 1 206841857 [A/C] rs4844550 1 206857407 [A/G] rs4845130 1 206872487 [A/G] NM_004759,NM_032960 MAPKAPK2,MAPKAPK2 Silent,Silent rs12060808 1 206877337 [T/C] NM_004759,NM_032960 MAPKAPK2,MAPKAPK2 Silent,Silent exm2250511 1 206879122 [T/G] NM_004759,NM_032960 MAPKAPK2,MAPKAPK2 Silent,Silent rs4256810 1 206890449 [T/C] NM_004759,NM_032960 MAPKAPK2,MAPKAPK2 Silent,Silent exm2232362 1 206902154 [C/G] NM_004759,NM_032960 MAPKAPK2,MAPKAPK2 EXON Missense_L127V,Missense_L127V exm143760 1 206903357 [T/C] NM_004759,NM_032960 MAPKAPK2,MAPKAPK2 EXON Missense_I202T,Missense_I202T exm143762 1 206903395 [A/C] NM_004759,NM_032960 MAPKAPK2,MAPKAPK2 EXON Missense_T215P,Missense_T215P newrs190801417 1 206905149 [A/G] NM_004759,NM_032960 MAPKAPK2,MAPKAPK2 Silent,Silent exm143785 1 206905223 [T/C] NM_004759,NM_032960 MAPKAPK2,MAPKAPK2 EXON Missense_R340W,Missense_R340W exm143787 1 206905263 [A/G] NM_004759,NM_032960 MAPKAPK2,MAPKAPK2 EXON Missense_K353R,Missense_K353R exm143789 1 206905395 [A/G] NM_004759,NM_032960 MAPKAPK2,MAPKAPK2 EXON Missense_D358N,Silent exm143796 1 206905941 [T/G] NM_004759,NM_032960 MAPKAPK2,MAPKAPK2 EXON Silent,Missense_A361S rs6692511 1 206927516 [T/C] exm-rs3024505 1 206939904 [A/G] newrs142726516 1 206941989 [A/G] NM_000572 IL10 EXON Nonsense_R177X exm-rs3024493 1 206943968 [A/C] NM_000572 IL10 Silent exm143806 1 206944259 [T/C] NM_000572 IL10 EXON Missense_R124Q exm-rs1518111 1 206944645 [T/C] NM_000572 IL10 Silent exm143826 1 206945723 [A/G] NM_000572 IL10 EXON Missense_P20S exm143829 1 206945738 [T/C] NM_000572 IL10 EXON Missense_G15R rs1800871 1 206946634 [A/G] exm-rs1800871 1 206946634 [A/G] rs1800896 1 206946897 [T/C] rs885334 1 206962416 [T/C] rs6683473 1 206967152 [T/C] rs11583394 1 206968893 [T/C] exm143836 1 206972307 [A/C] NM_153758 IL19 EXON Missense_H23P exm143837 1 206972348 [T/C] NM_153758 IL19 EXON Missense_R37W variant.9653 1 206972356 [A/G] NM_153758 IL19 Silent rs12042283 1 206974779 [T/C] NM_153758 IL19 Silent rs7540516 1 206986545 [A/C] NM_153758 IL19 Silent rs11119670 1 207005321 [T/C] NM_153758,NM_013371 IL19,IL19 Silent,Silent rs2243158 1 207007641 [C/G] NM_153758,NM_013371 IL19,IL19 EXON Silent,Silent rs2243170 1 207009910 [T/C] NM_153758,NM_013371 IL19,IL19 Silent,Silent exm143841 1 207010072 [A/G] NM_153758,NM_013371 IL19,IL19 EXON Missense_N60S,Missense_N22S variant.9654 1 207010151 [T/C] NM_153758,NM_013371 IL19,IL19 EXON Synonymous_I86I,Synonymous_I48I exm143850 1 207014348 [A/G] NM_153758,NM_013371 IL19,IL19 Silent,Silent exm143853 1 207015914 [A/G] NM_153758,NM_013371 IL19,IL19 EXON Missense_D199N,Missense_D161N exm143856 1 207015957 [T/C] NM_153758,NM_013371 IL19,IL19 EXON Missense_F213S,Missense_F175S rs2243191 1 207015957 [T/C] NM_153758,NM_013371 IL19,IL19 EXON Missense_F213S,Missense_F175S rs1798 1 207016125 [C/G] NM_153758,NM_013371 IL19,IL19 EXON Silent,Silent rs2883036 1 207024762 [T/C] rs1033272 1 207030985 [T/C] rs574773 1 207032751 [T/C] indel.9656 1 207039217 [D/I] NM_018724 IL20 EXON indel.9657 1 207039282 [I/D] NM_018724 IL20 EXON exm143857 1 207039288 [A/G] NM_018724 IL20 EXON Missense_G31R exm143859 1 207039345 [C/G] NM_018724 IL20 EXON Missense_R50G newrs3024516 1 207039361 [A/G] NM_018724 IL20 Silent exm143862 1 207039710 [T/G] NM_018724 IL20 Silent variant.9660 1 207039827 [A/G] NM_018724 IL20 Silent exm143864 1 207039838 [T/C] NM_018724 IL20 EXON Nonsense_R79X newrs141716593 1 207039838 [T/C] NM_018724 IL20 EXON Nonsense_R79X exm143866 1 207039923 [A/G] NM_018724 IL20 EXON Missense_R107Q exm143870 1 207040730 [A/G] NM_018724 IL20 EXON Missense_H127R exm143872 1 207041833 [T/C] NM_018724 IL20 EXON Missense_L152P rs3762344 1 207068672 [A/G] exm143879 1 207071206 [T/C] NM_006850,NM_001185157,NM_001185156,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_L10P,Missense_L10P,Missense_L10P,Missense_L10P variant.9662 1 207071226 [A/G] NM_006850,NM_001185157,NM_001185156,NM_001185158 IL24,IL24,IL24,IL24 Silent,Silent,Silent,Silent exm143889 1 207072749 [A/G] NM_006850,NM_001185157,NM_001185156,NM_001185158 IL24,IL24,IL24,IL24 EXON Nonsense_W43X,Nonsense_W44X,Nonsense_W44X,Silent variant.9665 1 207072819 [T/C] NM_006850,NM_001185157,NM_001185156,NM_001185158 IL24,IL24,IL24,IL24 EXON Nonsense_Q67X,Nonsense_Q68X,Nonsense_Q68X,Silent indel.9666 1 207073644 [D/I] NM_006850,NM_001185157,NM_001185156,NM_001185158 IL24,IL24,IL24,IL24 EXON newrs144126009 1 207073659 [T/C] NM_006850,NM_001185157,NM_001185156,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_T87M,Missense_T88M,Missense_T88M,Nonsense_R22X exm143896 1 207073701 [T/C] NM_006850,NM_001185157,NM_001185156,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_S101L,Missense_S102L,Missense_S102L,Missense_R36C exm143903 1 207074905 [T/C] NM_006850,NM_001185157,NM_001185156,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_Y124H,Silent,Missense_Y125H,Silent exm143904 1 207074909 [A/G] NM_006850,NM_001185157,NM_001185156,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_H125R,Silent,Missense_H126R,Silent exm143905 1 207074926 [C/G] NM_006850,NM_001185157,NM_001185156,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_V131L,Silent,Missense_V132L,Silent exm143916 1 207075400 [T/C] NM_006850,NM_001185157,NM_001185156,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_R174W,Missense_R122W,Missense_R175W,Synonymous_S55S exm143918 1 207076321 [T/G] NM_006850,NM_001185157,NM_001185156,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_L180V,Missense_L128V,Missense_L181V,Missense_S61R exm143921 1 207076376 [T/C] NM_006850,NM_001185157,NM_001185156,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_T198I,Missense_T146I,Missense_T199I,Silent exm143927 1 207078372 [T/G] NM_001193338,NM_005449,NM_001142473 FCMR,FCMR,FCMR EXON Silent,Missense_P389T,Missense_P277T exm143929 1 207078414 [T/C] NM_001193338,NM_005449,NM_001142473 FCMR,FCMR,FCMR EXON Silent,Missense_A375T,Missense_A263T exm143932 1 207078467 [A/G] NM_001193338,NM_005449,NM_001142473 FCMR,FCMR,FCMR EXON Silent,Missense_A357V,Missense_A245V rs12121499 1 207080565 [T/C] NM_001193338,NM_005449,NM_001142473 FCMR,FCMR,FCMR Silent,Silent,Silent exm1748610 1 207083135 [C/G] NM_001193338,NM_005449,NM_001142473 FCMR,FCMR,FCMR EXON Synonymous_A263A,Missense_R307P,Missense_R195P exm143947 1 207085267 [A/G] NM_001193338,NM_005449,NM_001142473 FCMR,FCMR,FCMR EXON Missense_P173L,Missense_P173L,Missense_P61L exm143949 1 207086334 [A/G] NM_001193338,NM_005449,NM_001142473 FCMR,FCMR,FCMR EXON Missense_H143Y,Missense_H143Y,Missense_H31Y rs94872 1 207086845 [T/C] NM_001193338,NM_005449,NM_001142473 FCMR,FCMR,FCMR Silent,Silent,Silent exm143958 1 207087230 [A/G] NM_001193338,NM_005449,NM_001142473 FCMR,FCMR,FCMR EXON Missense_R83C,Missense_R83C,Silent exm143963 1 207087413 [T/C] NM_001193338,NM_005449,NM_001142473 FCMR,FCMR,FCMR EXON Missense_E22K,Missense_E22K,Silent variant.9670 1 207095163 [T/C] NM_001193338,NM_005449,NM_001142473 FCMR,FCMR,FCMR EXON Missense_V13I,Missense_V13I,Missense_E13K variant.9671 1 207095188 [T/C] NM_001193338,NM_005449,NM_001142473 FCMR,FCMR,FCMR EXON Nonsense_W4X,Nonsense_W4X,Nonsense_W4X rs17017836 1 207095551 [T/C] indel.9673 1 207105067 [D/I] NM_002644 PIGR EXON exm1748637 1 207105843 [C/G] NM_002644 PIGR EXON Missense_V656L exm143990 1 207106478 [A/G] NM_002644 PIGR EXON Missense_A580V exm143997 1 207107766 [T/C] NM_002644 PIGR EXON Synonymous_A568A exm2250512 1 207107784 [A/G] NM_002644 PIGR EXON Synonymous_V562V exm143999 1 207107798 [T/C] NM_002644 PIGR EXON Missense_V558I exm144005 1 207107939 [T/C] NM_002644 PIGR EXON Missense_E511K exm144013 1 207108056 [T/C] NM_002644 PIGR EXON Missense_A472T exm144023 1 207109005 [T/C] NM_002644 PIGR EXON Missense_E402K exm144025 1 207109041 [A/C] NM_002644 PIGR EXON Missense_A390S exm144027 1 207109071 [T/C] NM_002644 PIGR EXON Missense_S380G exm144028 1 207109104 [T/C] NM_002644 PIGR EXON Missense_V369M exm144029 1 207109116 [T/C] NM_002644 PIGR EXON Missense_G365S rs2275531 1 207109116 [T/C] NM_002644 PIGR EXON Missense_G365S exm2232366 1 207109148 [T/C] NM_002644 PIGR EXON Missense_R354H exm144033 1 207110449 [T/C] NM_002644 PIGR EXON Missense_V346I exm2232367 1 207110494 [G/C] NM_002644 PIGR EXON Missense_G331R exm144052 1 207110638 [T/C] NM_002644 PIGR EXON Missense_V283I exm144062 1 207110764 [T/C] NM_002644 PIGR EXON Missense_E241K exm2250513 1 207110936 [T/C] NM_002644 PIGR EXON Synonymous_V183V exm144082 1 207112626 [T/C] NM_002644 PIGR EXON Missense_S76G exm144083 1 207112632 [T/C] NM_002644 PIGR EXON Missense_V74I rs6697345 1 207130317 [A/C] exm144091 1 207131878 [T/C] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_R573G,Silent,Silent exm144095 1 207133035 [T/C] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_R521K,Missense_E254K,Missense_E254K exm144097 1 207133093 [T/C] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_T502A,Synonymous_L234L,Synonymous_L234L exm144098 1 207133113 [T/C] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_R495Q,Missense_G228R,Missense_G228R exm144100 1 207133127 [A/G] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Synonymous_D490D,Missense_M223T,Missense_M223T exm144104 1 207133774 [T/C] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_V483M,Silent,Silent exm144107 1 207133830 [A/G] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_T464I,Silent,Silent exm144111 1 207133867 [T/G] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_L452I,Silent,Silent exm144114 1 207134104 [T/G] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_L373I,Silent,Silent exm144117 1 207134226 [T/C] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_S332N,Silent,Silent exm144118 1 207134365 [T/C] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_A286T,Silent,Silent exm144122 1 207134410 [T/G] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_T271P,Silent,Silent 1KG_1_207134526 1 207134526 [D/I] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON exm144134 1 207135670 [A/C] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_L180F,Missense_L180F,Missense_L180F exm144140 1 207135723 [A/G] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_H163Y,Missense_H163Y,Missense_H163Y exm144142 1 207135752 [T/C] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_Q153R,Missense_Q153R,Missense_Q153R exm144145 1 207135810 [T/C] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_V134I,Missense_V134I,Missense_V134I exm144146 1 207135812 [T/G] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_S133Y,Missense_S133Y,Missense_S133Y exm144147 1 207135828 [A/G] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_H128Y,Missense_H128Y,Missense_H128Y rs11119925 1 207135991 [T/C] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR Silent,Silent,Silent rs11576146 1 207139046 [A/G] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR Silent,Silent,Silent exm144155 1 207139123 [A/G] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_R84W,Missense_R84W,Missense_R84W exm144165 1 207140447 [T/C] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_R40K,Missense_R40K,Missense_R40K variant.9679 1 207140928 [T/G] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Missense_H36Q,Missense_H36Q,Missense_H36Q variant.9680 1 207140941 [A/C] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR EXON Nonsense_L32X,Nonsense_L32X,Nonsense_L32X rs17018470 1 207141876 [A/G] NM_001170631,NM_001122979,NM_032029 FCAMR,FCAMR,FCAMR Silent,Silent,Silent rs2353550 1 207146837 [A/G] rs2842716 1 207152472 [A/G] rs6672060 1 207159378 [A/C] rs2791708 1 207162433 [T/C] rs2629646 1 207178900 [A/C] rs764317 1 207187406 [T/C] rs10864026 1 207187497 [A/G] exm144176 1 207195352 [T/C] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_N586S,Missense_N340S exm144183 1 207195437 [A/G] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_R558C,Missense_R312C exm144189 1 207195520 [A/G] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_P530L,Missense_P284L exm144190 1 207195529 [T/C] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_R527Q,Missense_R281Q exm144193 1 207195568 [A/G] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_F514S,Missense_F268S exm144196 1 207195610 [T/G] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_D500A,Missense_D254A exm2232372 1 207195632 [T/C] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_S493G,Missense_S247G exm2250515 1 207195633 [A/G] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Synonymous_S492S,Synonymous_S246S exm144199 1 207195652 [T/C] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_R486H,Missense_R240H rs6693011 1 207195735 [T/C] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Synonymous_P458P,Synonymous_P212P rs2842726 1 207195779 [A/G] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_S444P,Missense_S198P exm144203 1 207195779 [A/G] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_S444P,Missense_S198P exm144204 1 207195808 [T/C] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_N434S,Missense_N188S exm144205 1 207195868 [A/G] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_P414L,Missense_P168L exm144214 1 207196028 [G/C] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_D361H,Missense_D115H exm144224 1 207196223 [A/G] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_P296S,Missense_P50S exm144226 1 207196253 [A/G] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_P286S,Missense_P40S exm144228 1 207196337 [T/C] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_R258G,Missense_R12G exm144233 1 207196405 [T/C] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_S235N,Silent exm1748699 1 207196454 [T/C] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_E219K,Silent exm144238 1 207196496 [A/G] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_R205W,Silent exm144241 1 207196544 [T/C] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_A189T,Silent exm144246 1 207196598 [T/C] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_E171K,Silent exm144248 1 207196639 [T/G] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_N157T,Silent exm144250 1 207196757 [A/G] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_H118Y,Silent exm144251 1 207196760 [A/G] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_S117P,Silent exm144254 1 207196790 [T/C] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_T107A,Silent exm144255 1 207196817 [T/C] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_E98K,Silent exm144256 1 207198235 [A/G] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_R94W,Silent exm144263 1 207198313 [T/C] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_G68R,Silent exm144274 1 207200895 [T/A] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_T17S,Silent exm144277 1 207200929 [G/C] NM_023938,NM_001083924 C1orf116,C1orf116 EXON Missense_E5D,Silent rs2842738 1 207209643 [A/G] rs11120092 1 207211161 [A/G] exm144280 1 207222375 [C/G] NM_018566,NM_001276320 YOD1,YOD1 EXON Missense_G346A,Missense_G302A exm144281 1 207222381 [T/C] NM_018566,NM_001276320 YOD1,YOD1 EXON Missense_N344S,Missense_N300S exm144288 1 207222471 [T/C] NM_018566,NM_001276320 YOD1,YOD1 EXON Missense_N314S,Missense_N270S exm2250516 1 207223055 [A/G] NM_018566,NM_001276320 YOD1,YOD1 EXON Synonymous_I119I,Synonymous_I75I exm144315 1 207228098 [C/G] NM_001018053,NM_006212 PFKFB2,PFKFB2 EXON Missense_N12K,Missense_N12K exm144318 1 207235372 [A/G] NM_001018053,NM_006212 PFKFB2,PFKFB2 EXON Missense_V54M,Missense_V54M rs2629639 1 207236524 [A/G] NM_001018053,NM_006212 PFKFB2,PFKFB2 EXON Synonymous_A115A,Synonymous_A115A exm144337 1 207238478 [A/G] NM_001018053,NM_006212 PFKFB2,PFKFB2 EXON Missense_R202Q,Missense_R202Q exm144354 1 207241655 [A/G] NM_001018053,NM_006212 PFKFB2,PFKFB2 Silent,Silent exm144364 1 207244554 [A/G] NM_001018053,NM_006212 PFKFB2,PFKFB2 EXON Missense_C415Y,Missense_C415Y exm144371 1 207245613 [A/G] NM_001018053,NM_006212 PFKFB2,PFKFB2 EXON Silent,Missense_S472N exm144372 1 207245616 [T/C] NM_001018053,NM_006212 PFKFB2,PFKFB2 EXON Silent,Missense_S473L exm144374 1 207245684 [T/C] NM_001018053,NM_006212 PFKFB2,PFKFB2 EXON Silent,Missense_R496C rs1565 1 207250570 [A/G] NM_001018053,NM_006212 PFKFB2,PFKFB2 EXON Silent,Silent exm144380 1 207252329 [T/C] NM_001018053 PFKFB2 EXON Missense_R461C exm144381 1 207252330 [A/G] NM_001018053 PFKFB2 EXON Missense_R461H exm144390 1 207262911 [T/C] NM_001017365,NM_001017366,NM_001017364,NM_000716,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB EXON Missense_A12V,Missense_A12V,Missense_A12V,Missense_A12V,Missense_A12V rs6690037 1 207263829 [A/G] NM_001017365,NM_001017366,NM_001017364,NM_000716,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB Silent,Silent,Silent,Silent,Silent exm144403 1 207265060 [A/C] NM_001017365,NM_001017366,NM_001017364,NM_000716,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB EXON Missense_K102Q,Missense_K101Q,Missense_K101Q,Missense_K102Q,Missense_K102Q exm-rs3813948 1 207269858 [T/C] NM_001017365,NM_001017366,NM_001017364,NM_000716,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB Silent,Silent,Silent,Silent,Silent exm144418 1 207271511 [A/G] NM_001017365,NM_001017366,NM_001017364,NM_000716,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB EXON Missense_V174M,Missense_V173M,Missense_V173M,Missense_V174M,Missense_V174M indel.9691 1 207271584 [I/D] NM_001017365,NM_001017366,NM_001017364,NM_000716,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB EXON exm144423 1 207271587 [A/C] NM_001017365,NM_001017366,NM_001017364,NM_000716,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB EXON Missense_K199T,Missense_K198T,Missense_K198T,Missense_K199T,Missense_K199T exm144429 1 207273209 [A/G] NM_001017365,NM_001017366,NM_001017364,NM_000716,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB EXON Missense_T232A,Missense_T231A,Missense_T231A,Missense_T232A,Missense_T232A rs11120211 1 207276379 [A/G] exm144432 1 207286380 [G/C] NM_000715 C4BPA EXON Missense_P4A exm144433 1 207286381 [A/C] NM_000715 C4BPA EXON Missense_P4Q exm144440 1 207287481 [T/C] NM_000715 C4BPA EXON Missense_A60V exm144449 1 207287603 [A/G] NM_000715 C4BPA EXON Missense_E101K rs2842704 1 207289436 [A/G] NM_000715 C4BPA Silent rs4259650 1 207293496 [A/G] NM_000715 C4BPA Silent exm144466 1 207297621 [T/C] NM_000715 C4BPA EXON Missense_R206C exm144467 1 207297622 [A/G] NM_000715 C4BPA EXON Missense_R206H exm144473 1 207300070 [A/G] NM_000715 C4BPA EXON Missense_R240H exm144486 1 207304980 [G/C] NM_000715 C4BPA EXON Missense_V327L exm144487 1 207304993 [A/G] NM_000715 C4BPA EXON Missense_R331H rs4571969 1 207305588 [T/C] NM_000715 C4BPA Silent exm144499 1 207307932 [A/G] NM_000715 C4BPA EXON Missense_G423E rs7524207 1 207311481 [T/C] NM_000715 C4BPA Silent rs12091603 1 207314356 [A/C] NM_000715 C4BPA Silent exm144502 1 207317172 [A/G] NM_000715 C4BPA EXON Missense_R485Q exm144507 1 207317333 [C/G] NM_000715 C4BPA EXON Missense_E539Q exm144508 1 207317935 [T/C] NM_000715 C4BPA EXON Missense_M556T rs6666604 1 207345819 [T/G] rs6672985 1 207360067 [T/C] rs1429909 1 207369066 [T/C] rs10864144 1 207402853 [T/C] rs7543834 1 207403840 [A/G] rs17258843 1 207414732 [T/C] rs6540896 1 207440851 [T/C] rs11584921 1 207441975 [A/G] rs12134133 1 207457845 [A/G] rs1652333 1 207470460 [A/G] indel.9695 1 207495732 [I/D] NM_001300904,NM_001114752,NR_125349,NM_001300902,NM_001300903,NM_000574 CD55,CD55,CD55,CD55,CD55,CD55 EXON exm144514 1 207495871 [T/G] NM_001300904,NM_001114752,NR_125349,NM_001300902,NM_001300903,NM_000574 CD55,CD55,CD55,CD55,CD55,CD55 EXON Missense_L82R,Missense_L82R,Silent,Missense_L82R,Missense_L82R,Missense_L82R variant.9697 1 207495882 [T/C] NM_001300904,NM_001114752,NR_125349,NM_001300902,NM_001300903,NM_000574 CD55,CD55,CD55,CD55,CD55,CD55 EXON Nonsense_Q86X,Nonsense_Q86X,Silent,Nonsense_Q86X,Nonsense_Q86X,Nonsense_Q86X exm144524 1 207498973 [T/C] NM_001300904,NM_001114752,NR_125349,NM_001300902,NM_001300903,NM_000574 CD55,CD55,CD55,CD55,CD55,CD55 EXON Missense_S162L,Missense_S162L,Silent,Missense_S162L,Missense_S162L,Missense_S162L rs4844591 1 207500293 [T/C] NM_001300904,NM_001114752,NR_125349,NM_001300902,NM_001300903,NM_000574 CD55,CD55,CD55,CD55,CD55,CD55 Silent,Silent,Silent,Silent,Silent,Silent exm1748807 1 207504467 [C/G] NM_001300904,NM_001114752,NR_125349,NM_001300902,NM_001300903,NM_000574 CD55,CD55,CD55,CD55,CD55,CD55 EXON Missense_A227P,Missense_A227P,Silent,Missense_A227P,Missense_A227P,Missense_A227P exm144531 1 207504479 [A/G] NM_001300904,NM_001114752,NR_125349,NM_001300902,NM_001300903,NM_000574 CD55,CD55,CD55,CD55,CD55,CD55 EXON Missense_I231V,Missense_I231V,Silent,Missense_I231V,Missense_I231V,Missense_I231V newrs140013480 1 207504642 [T/G] NM_001300904,NM_001114752,NR_125349,NM_001300902,NM_001300903,NM_000574 CD55,CD55,CD55,CD55,CD55,CD55 Silent,Silent,Silent,Silent,Silent,Silent rs7544288 1 207509022 [A/G] NM_001300904,NM_001114752,NR_125349,NM_001300902,NM_001300903,NM_000574 CD55,CD55,CD55,CD55,CD55,CD55 Silent,Silent,Silent,Silent,Silent,Silent indel.9699 1 207510046 [I/D] NM_001300904,NM_001114752,NR_125349,NM_001300902,NM_001300903,NM_000574 CD55,CD55,CD55,CD55,CD55,CD55 EXON variant.9700 1 207510168 [A/G] NM_001300904,NM_001114752,NR_125349,NM_001300902,NM_001300903,NM_000574 CD55,CD55,CD55,CD55,CD55,CD55 Silent,Silent,Silent,Silent,Silent,Silent exm144548 1 207510691 [A/G] NM_001300904,NM_001114752,NR_125349,NM_001300902,NM_001300903,NM_000574 CD55,CD55,CD55,CD55,CD55,CD55 EXON Missense_V333I,Missense_V333I,Silent,Missense_V333I,Missense_V333I,Missense_V333I exm144549 1 207510725 [T/C] NM_001300904,NM_001114752,NR_125349,NM_001300902,NM_001300903,NM_000574 CD55,CD55,CD55,CD55,CD55,CD55 EXON Missense_T344I,Missense_T344I,Silent,Missense_T344I,Missense_T344I,Missense_T344I exm144550 1 207510733 [A/G] NM_001300904,NM_001114752,NR_125349,NM_001300902,NM_001300903,NM_000574 CD55,CD55,CD55,CD55,CD55,CD55 EXON Missense_K347E,Missense_K347E,Silent,Missense_K347E,Missense_K347E,Missense_K347E exm2232377 1 207512742 [G/C] NM_001300904,NM_001114752,NR_125349,NM_001300902,NM_001300903,NM_000574 CD55,CD55,CD55,CD55,CD55,CD55 EXON Missense_G354A,Missense_G354A,Silent,Missense_G354A,Missense_G354A,Missense_G354A exm2250517 1 207535246 [A/C] rs11117564 1 207536971 [A/C] rs12116783 1 207556770 [T/C] rs2940252 1 207573387 [A/C] rs2661361 1 207578194 [T/G] rs2135924 1 207594943 [A/G] rs6656123 1 207595822 [T/C] exm144577 1 207639979 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_R56H,Missense_R56H exm2232378 1 207640012 [G/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_T67S,Missense_T67S exm144579 1 207640054 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_K81R,Missense_K81R rs1032980 1 207640345 [T/G] NM_001006658,NM_001877 CR2,CR2 Silent,Silent exm144594 1 207641950 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_P175L,Missense_P175L indel.9702 1 207642015 [I/D] NM_001006658,NM_001877 CR2,CR2 EXON indel.9703 1 207642016 [I/D] NM_001006658,NM_001877 CR2,CR2 EXON indel.9704 1 207642044 [D/I] NM_001006658,NM_001877 CR2,CR2 EXON exm144602 1 207642151 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_R214H,Missense_R214H exm144603 1 207642168 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Nonsense_R220X,Nonsense_R220X exm144612 1 207642500 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_R247Q,Missense_R247Q exm144617 1 207643142 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_P307L,Missense_P307L exm144618 1 207643192 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_R324C,Missense_R324C exm1748837 1 207643295 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_R358K,Missense_R358K exm144630 1 207643316 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_Q365R,Missense_Q365R exm144631 1 207643339 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_D373N,Missense_D373N exm144632 1 207643362 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_M380I,Missense_M380I exm144639 1 207643432 [C/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_P404A,Missense_P404A exm144647 1 207644249 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_P464S,Missense_P464S variant.9707 1 207644262 [A/G] NM_001006658,NM_001877 CR2,CR2 Silent,Silent exm144653 1 207644414 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_N492S,Missense_N492S exm144655 1 207644786 [T/A] NM_001006658,NM_001877 CR2,CR2 EXON Missense_S504R,Missense_S504R variant.9708 1 207644844 [T/G] NM_001006658,NM_001877 CR2,CR2 EXON Nonsense_E524X,Nonsense_E524X exm144660 1 207646168 [T/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_S541I,Missense_S541I exm144665 1 207646222 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_G559E,Missense_G559E exm144675 1 207646462 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_S639N,Missense_S639N exm144676 1 207646477 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_C644Y,Missense_C644Y exm144679 1 207646898 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_S663P,Silent exm144681 1 207646923 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_R671H,Silent exm144683 1 207646941 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_T677M,Silent exm144699 1 207647643 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Nonsense_W766X,Nonsense_W707X indel.9713 1 207648268 [I/D] NM_001006658,NM_001877 CR2,CR2 EXON exm144711 1 207648456 [T/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_V871L,Missense_V812L exm144714 1 207648499 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_R885H,Missense_R826H indel.9714 1 207648530 [D/I] NM_001006658,NM_001877 CR2,CR2 EXON variant.9715 1 207648566 [T/G] NM_001006658,NM_001877 CR2,CR2 Silent,Silent exm144716 1 207649585 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_I908T,Missense_I849T exm144720 1 207649609 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_T916I,Missense_T857I exm144723 1 207649698 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_V946M,Missense_V887M exm144731 1 207651360 [G/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_Q1011H,Missense_Q952H exm144732 1 207651374 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_S1016L,Missense_S957L exm144735 1 207651395 [A/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_P1023H,Missense_P964H exm-rs17045328 1 207652176 [A/G] NM_001006658,NM_001877 CR2,CR2 Silent,Silent exm144740 1 207653364 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_I1052V,Missense_I993V exm144743 1 207653395 [A/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_A1062E,Missense_A1003E exm144744 1 207653397 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_R1063C,Missense_R1004C variant.9717 1 207653400 [T/C] NM_001006658,NM_001877 CR2,CR2 Silent,Silent rs17045468 1 207657375 [T/C] NM_001006658,NM_001877 CR2,CR2 Silent,Silent rs12021671 1 207658145 [A/G] NM_001006658,NM_001877 CR2,CR2 Silent,Silent exm144750 1 207658871 [A/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_S1084Y,Missense_S1025Y rs2182911 1 207660071 [T/C] NM_001006658,NM_001877 CR2,CR2 Silent,Silent rs1571344 1 207670928 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent rs7533408 1 207673631 [T/C] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm144765 1 207679398 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_V91I,Missense_V91I exm144767 1 207679429 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm144777 1 207680154 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_K133E,Missense_K133E rs11117956 1 207684359 [T/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm-rs6656401 1 207692049 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent rs932859 1 207695880 [T/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm144829 1 207741193 [T/C] NM_000573,NM_000651 CR1,CR1 EXON Missense_V876A,Missense_V1326A indel.9721 1 207748991 [I/D] NM_000573,NM_000651 CR1,CR1 EXON exm144874 1 207755285 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_V1297I,Missense_V1747I exm144875 1 207755348 [T/C] NM_000573,NM_000651 CR1,CR1 EXON Missense_H1318Y,Missense_H1768Y var_1_207755348 1 207755348 [T/C] NM_000573,NM_000651 CR1,CR1 EXON Missense_H1318Y,Missense_H1768Y variant.9725 1 207755349 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent rs12034598 1 207757515 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent variant.9726 1 207760729 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm144887 1 207760772 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_T1408A,Missense_T1858A exm144888 1 207760773 [T/C] NM_000573,NM_000651 CR1,CR1 EXON Missense_T1408M,Missense_T1858M exm144891 1 207760805 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_G1419R,Missense_G1869R exm144895 1 207760852 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_M1434I,Missense_M1884I exm144899 1 207762095 [T/C] NM_000573,NM_000651 CR1,CR1 EXON Missense_T1479I,Missense_T1929I rs3738468 1 207762358 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm1748936 1 207780596 [T/G] NM_000573,NM_000651 CR1,CR1 EXON Synonymous_G1487G,Synonymous_G1937G rs17047631 1 207781200 [T/C] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm144906 1 207782682 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_S1532G,Missense_S1982G exm144908 1 207782707 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_N1540S,Missense_N1990S exm144910 1 207782769 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_V1561M,Missense_V2011M rs17047660 1 207782856 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_K1590E,Missense_K2040E exm144917 1 207782856 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_K1590E,Missense_K2040E exm144919 1 207782889 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_R1601G,Missense_R2051G exm144922 1 207782916 [A/T] NM_000573,NM_000651 CR1,CR1 EXON Missense_T1610S,Missense_T2060S exm144924 1 207782931 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_I1615V,Missense_I2065V exm144926 1 207782953 [T/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_G1622V,Missense_G2072V exm-rs3818361 1 207784968 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent rs3818361 1 207784968 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent variant.9728 1 207785021 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm-rs6701713 1 207786289 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm144947 1 207787763 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_G1747D,Missense_G2197D indel.9729 1 207789955 [D/I] NM_000573,NM_000651 CR1,CR1 EXON exm144953 1 207790018 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_D1804N,Missense_D2254N exm2232390 1 207790033 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_R1809G,Missense_R2259G exm144961 1 207791434 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_K1853R,Missense_K2303R exm144965 1 207791535 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_G1887S,Missense_G2337S exm144971 1 207793289 [A/C] NM_000573,NM_000651 CR1,CR1 EXON Synonymous_V1927V,Synonymous_V2377V exm2250518 1 207793289 [A/C] NM_000573,NM_000651 CR1,CR1 EXON Synonymous_V1927V,Synonymous_V2377V var_1_207793410 1 207793410 [T/C] NM_000573,NM_000651 CR1,CR1 EXON Missense_R1968C,Missense_R2418C exm144975 1 207793411 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm144976 1 207795320 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_T1969A,Missense_T2419A rs12034383 1 207803595 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm-rs12034383 1 207803595 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm144981 1 207803936 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_R2026Q,Missense_R2476Q exm144982 1 207803947 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_T2030A,Missense_T2480A exm1748962 1 207803958 [T/A] NM_000573,NM_000651 CR1,CR1 EXON Missense_E2033D,Missense_E2483D rs10779339 1 207814451 [T/C] NM_000573,NM_000651 CR1,CR1 EXON Silent,Silent rs12080578 1 207820612 [A/G] NM_175710 CR1L Silent rs1323721 1 207823240 [A/G] NM_175710 CR1L Silent rs10863461 1 207840776 [A/G] NM_175710 CR1L Silent rs12567945 1 207841934 [T/C] NM_175710 CR1L Silent rs10494884 1 207847876 [T/C] NM_175710 CR1L Silent exm144996 1 207850743 [A/G] NM_175710 CR1L EXON Missense_N36S indel.9734 1 207850758 [I/D] NM_175710 CR1L EXON exm144998 1 207850764 [T/C] NM_175710 CR1L EXON Missense_F43S exm145007 1 207850900 [C/G] NM_175710 CR1L EXON Missense_K88N exm145016 1 207851611 [A/G] NM_175710 CR1L EXON Missense_R116G variant.9735 1 207851642 [T/G] NM_175710 CR1L EXON Missense_G126V var_1_207851643 1 207851643 [A/G] NM_175710 CR1L Silent exm145020 1 207857254 [A/G] NM_175710 CR1L EXON Missense_I139V exm145026 1 207867770 [A/G] NM_175710 CR1L EXON Missense_Y179C exm145032 1 207867854 [A/G] NM_175710 CR1L EXON Missense_C207Y exm145036 1 207867889 [A/G] NM_175710 CR1L EXON Missense_G219S exm145044 1 207868009 [C/G] NM_175710 CR1L EXON Missense_Q259E exm145055 1 207870968 [T/C] NM_175710 CR1L EXON Missense_T328M indel.9738 1 207871014 [I/D] NM_175710 CR1L EXON exm145061 1 207871155 [A/G] NM_175710 CR1L EXON Missense_G360D rs7527798 1 207872290 [T/C] NM_175710 CR1L Silent exm-rs7527798 1 207872290 [T/C] NM_175710 CR1L Silent exm-rs4844614 1 207875175 [T/G] NM_175710 CR1L Silent rs4844614 1 207875175 [T/G] NM_175710 CR1L Silent rs12073783 1 207875431 [A/G] NM_175710 CR1L Silent exm145072 1 207881605 [T/C] NM_175710 CR1L EXON Nonsense_Q471X rs1998538 1 207886487 [A/G] NM_175710 CR1L Silent exm145076 1 207890818 [A/G] NM_175710 CR1L EXON Missense_C475Y exm145085 1 207890961 [T/C] NM_175710 CR1L EXON Missense_R523C variant.9740 1 207891037 [A/G] NM_175710 CR1L Silent rs2761424 1 207893782 [T/C] NM_175710 CR1L Silent rs11118475 1 207894416 [A/G] NM_175710 CR1L Silent rs2761429 1 207910058 [T/C] exm145089 1 207925595 [T/C] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_S13F,Missense_S13F,Missense_S13F,Missense_S13F,Missense_S13F,Missense_S13F,Missense_S13F,Missense_S13F,Missense_S13F,Missense_S13F,Missense_S13F,Missense_S13F rs2724384 1 207930203 [A/G] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm145090 1 207930459 [A/T] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_K66N,Missense_K66N,Missense_K66N,Missense_K66N,Missense_K66N,Missense_K66N,Missense_K66N,Missense_K66N,Missense_K66N,Missense_K66N,Missense_K66N,Missense_K66N exm2250519 1 207930516 [A/G] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Synonymous_T85T,Synonymous_T85T,Synonymous_T85T,Synonymous_T85T,Synonymous_T85T,Synonymous_T85T,Synonymous_T85T,Synonymous_T85T,Synonymous_T85T,Synonymous_T85T,Synonymous_T85T,Synonymous_T85T exm145096 1 207930546 [T/C] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Synonymous_Y95Y,Synonymous_Y95Y,Synonymous_Y95Y,Synonymous_Y95Y,Synonymous_Y95Y,Synonymous_Y95Y,Synonymous_Y95Y,Synonymous_Y95Y,Synonymous_Y95Y,Synonymous_Y95Y,Synonymous_Y95Y,Synonymous_Y95Y exm1749026 1 207930891 [T/C] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_T98I,Missense_T98I,Missense_T98I,Missense_T98I,Missense_T98I,Missense_T98I,Missense_T98I,Missense_T98I,Missense_T98I,Missense_T98I,Missense_T98I,Missense_T98I rs2724387 1 207932617 [T/G] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2466571 1 207940046 [T/G] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm145110 1 207940370 [A/G] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q exm2232391 1 207940399 [A/G] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_I239V,Missense_I239V,Missense_I239V,Missense_I239V,Missense_I239V,Missense_I239V,Missense_I239V,Missense_I239V,Missense_I239V,Missense_I239V,Missense_I239V,Missense_I239V exm145117 1 207940480 [A/G] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_D266N,Missense_D266N,Missense_D266N,Missense_D266N,Missense_D266N,Missense_D266N,Missense_D266N,Missense_D266N,Missense_D266N,Missense_D266N,Missense_D266N,Missense_D266N exm145130 1 207941128 [A/G] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Silent,Synonymous_S287S,Synonymous_S302S,Synonymous_S287S,Synonymous_S287S,Synonymous_S287S,Silent,Silent,Silent,Synonymous_S287S,Synonymous_S302S,Silent exm2250520 1 207941128 [A/G] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Silent,Synonymous_S287S,Synonymous_S302S,Synonymous_S287S,Synonymous_S287S,Synonymous_S287S,Silent,Silent,Silent,Synonymous_S287S,Synonymous_S302S,Silent indel.9743 1 207941153 [D/I] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON exm145140 1 207943690 [T/C] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Silent,Silent,Missense_P324L,Missense_P309L,Silent,Missense_P309L,Missense_P294L,Missense_P294L,Missense_P294L,Missense_P309L,Missense_P324L,Silent rs2796278 1 207955823 [A/C] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7541230 1 207957555 [T/C] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm145146 1 207958446 [T/C] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_A309V,Missense_A324V,Missense_A353V,Missense_A338V,Missense_A324V,Missense_A338V,Missense_A323V,Missense_A323V,Missense_A323V,Missense_A338V,Missense_A353V,Missense_A309V variant.9746 1 207959027 [A/G] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_G332E,Missense_G347E,Missense_G376E,Missense_G349R,Missense_G347D,Missense_G361D,Missense_G346E,Missense_G346D,Silent,Missense_G361E,Missense_G376D,Missense_G332D newrs146803767 1 207963618 [T/C] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Silent,Silent,Silent,Silent,Missense_T354I,Missense_T368I,Silent,Missense_T353I,Silent,Silent,Missense_T383I,Missense_T339I exm145155 1 207963618 [T/C] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Silent,Silent,Silent,Silent,Missense_T354I,Missense_T368I,Silent,Missense_T353I,Silent,Silent,Missense_T383I,Missense_T339I indel.9750 1 207966923 [D/I] NM_172361,NM_172356,NM_172359,NM_172358,NM_172355,NM_172351,NM_172353,NM_172352,NM_172350,NM_153826,NM_002389,NM_172357 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON exm-rs12731740 1 208024820 [T/C] rs2796241 1 208027459 [A/C] rs7550821 1 208029947 [T/C] rs2796245 1 208030852 [A/G] rs984984 1 208035088 [T/G] rs2952 1 208049077 [T/C] rs2745948 1 208051059 [T/C] rs694748 1 208055666 [A/C] rs7572 1 208060009 [T/C] NM_001773,NM_001025109 CD34,CD34 EXON Silent,Silent exm145169 1 208061106 [T/C] NM_001773,NM_001025109 CD34,CD34 EXON Silent,Missense_V379M exm2232392 1 208061142 [A/C] NM_001773,NM_001025109 CD34,CD34 EXON Silent,Missense_A367S exm2275541 1 208061148 [A/C] NM_001773,NM_001025109 CD34,CD34 EXON Silent,Missense_G365C exm145179 1 208061267 [T/C] NM_001773,NM_001025109 CD34,CD34 EXON Silent,Missense_G325D exm145181 1 208062046 [G/C] NM_001773,NM_001025109 CD34,CD34 EXON Missense_S318T,Missense_S318T exm145192 1 208062965 [A/G] NM_001773,NM_001025109 CD34,CD34 EXON Missense_A200V,Missense_A200V rs2259397 1 208068579 [T/C] NM_001773,NM_001025109 CD34,CD34 Silent,Silent rs2796254 1 208069137 [A/G] NM_001773,NM_001025109 CD34,CD34 Silent,Silent rs2488250 1 208069877 [A/G] NM_001773,NM_001025109 CD34,CD34 Silent,Silent exm145213 1 208072436 [A/G] NM_001773,NM_001025109 CD34,CD34 EXON Missense_T133I,Missense_T133I exm145214 1 208072455 [T/C] NM_001773,NM_001025109 CD34,CD34 EXON Missense_V127I,Missense_V127I variant.9752 1 208073165 [T/C] NM_001773,NM_001025109 CD34,CD34 Silent,Silent exm145219 1 208073205 [A/C] NM_001773,NM_001025109 CD34,CD34 EXON Missense_V75L,Missense_V75L exm145223 1 208073330 [A/G] NM_001773,NM_001025109 CD34,CD34 EXON Missense_L33P,Missense_L33P rs1932819 1 208078238 [A/G] NM_001773,NM_001025109 CD34,CD34 Silent,Silent rs2473653 1 208101656 [T/C] rs614732 1 208112125 [T/C] rs1028400 1 208113731 [A/C] rs1074327 1 208127490 [A/C] exm-rs2745967 1 208128722 [A/G] rs11579848 1 208128855 [A/G] rs652727 1 208164369 [T/C] exm2250521 1 208164440 [A/G] rs586683 1 208168613 [T/G] rs6666839 1 208177525 [A/G] rs481764 1 208184956 [T/C] rs2745945 1 208188196 [T/C] rs16808 1 208190623 [T/G] exm145229 1 208200640 [T/C] NM_025179 PLXNA2 EXON Missense_R1878Q rs841862 1 208203281 [A/G] NM_025179 PLXNA2 Silent rs3811386 1 208204399 [T/G] NM_025179 PLXNA2 Silent exm145262 1 208206768 [T/C] NM_025179 PLXNA2 EXON Missense_V1651M exm145269 1 208206836 [A/G] NM_025179 PLXNA2 EXON Missense_T1628M rs3736963 1 208207839 [A/G] NM_025179 PLXNA2 EXON Synonymous_Y1621Y exm145271 1 208207839 [A/G] NM_025179 PLXNA2 EXON Synonymous_Y1621Y exm145281 1 208211804 [T/C] NM_025179 PLXNA2 EXON Missense_R1559Q exm145290 1 208212224 [T/C] NM_025179 PLXNA2 EXON Missense_V1536M exm145295 1 208212971 [T/C] NM_025179 PLXNA2 EXON Missense_T1499A exm145308 1 208213363 [T/C] NM_025179 PLXNA2 EXON Missense_A1443T rs12734403 1 208213653 [A/G] NM_025179 PLXNA2 Silent exm145312 1 208215558 [T/G] NM_025179 PLXNA2 EXON Missense_M1391L exm145346 1 208219267 [T/C] NM_025179 PLXNA2 EXON Missense_T1151A rs6540451 1 208225357 [A/G] NM_025179 PLXNA2 Silent exm145370 1 208225805 [G/C] NM_025179 PLXNA2 EXON Missense_P954A rs841865 1 208225909 [A/G] NM_025179 PLXNA2 Silent exm145371 1 208227768 [T/C] NM_025179 PLXNA2 EXON Missense_V952M exm145372 1 208227773 [T/G] NM_025179 PLXNA2 EXON Missense_T950N exm145386 1 208234128 [T/C] NM_025179 PLXNA2 EXON Missense_V881M rs4844634 1 208234388 [T/G] NM_025179 PLXNA2 Silent rs10863692 1 208243860 [A/G] NM_025179 PLXNA2 Silent rs2478816 1 208244853 [A/G] NM_025179 PLXNA2 Silent exm145393 1 208252652 [T/C] NM_025179 PLXNA2 EXON Missense_D847N exm145396 1 208252681 [T/C] NM_025179 PLXNA2 EXON Missense_H837R exm145398 1 208252715 [A/C] NM_025179 PLXNA2 EXON Missense_C826G exm145403 1 208252777 [C/G] NM_025179 PLXNA2 EXON Missense_A805G exm145404 1 208252778 [A/C] NM_025179 PLXNA2 EXON Missense_A805S rs7540179 1 208253883 [A/G] NM_025179 PLXNA2 Silent exm145409 1 208255817 [T/C] NM_025179 PLXNA2 EXON Missense_V779M exm145410 1 208255832 [A/T] NM_025179 PLXNA2 EXON Missense_I774F exm145415 1 208257774 [A/G] NM_025179 PLXNA2 EXON Missense_V750A exm145416 1 208257789 [T/C] NM_025179 PLXNA2 EXON Missense_G745E rs10863694 1 208262786 [T/C] NM_025179 PLXNA2 Silent rs2478806 1 208265612 [T/G] NM_025179 PLXNA2 Silent rs2148699 1 208267578 [T/C] NM_025179 PLXNA2 Silent exm145428 1 208270093 [T/C] NM_025179 PLXNA2 EXON Missense_V623I exm2232397 1 208270107 [T/G] NM_025179 PLXNA2 EXON Missense_P618H exm145433 1 208270177 [T/C] NM_025179 PLXNA2 EXON Missense_A595T rs3818517 1 208270244 [A/C] NM_025179 PLXNA2 Silent exm145440 1 208272311 [C/G] NM_025179 PLXNA2 EXON Missense_C537W exm145441 1 208272313 [A/C] NM_025179 PLXNA2 EXON Missense_C537G rs11118988 1 208296083 [A/G] NM_025179 PLXNA2 Silent rs6540454 1 208298239 [A/G] NM_025179 PLXNA2 Silent exm2264946 1 208299199 [A/G] NM_025179 PLXNA2 Silent rs895241 1 208302633 [T/C] NM_025179 PLXNA2 Silent rs859499 1 208309240 [A/G] NM_025179 PLXNA2 Silent exm145446 1 208315674 [T/C] NM_025179 PLXNA2 EXON Synonymous_Q502Q rs1875431 1 208321118 [T/C] NM_025179 PLXNA2 Silent rs600031 1 208325244 [A/G] NM_025179 PLXNA2 Silent rs6697350 1 208327039 [A/G] NM_025179 PLXNA2 Silent rs2590688 1 208328224 [A/G] NM_025179 PLXNA2 Silent exm-rs4844649 1 208337392 [A/G] NM_025179 PLXNA2 Silent rs895237 1 208341500 [A/C] NM_025179 PLXNA2 Silent rs12033110 1 208349259 [A/G] NM_025179 PLXNA2 Silent rs6673048 1 208353855 [T/C] NM_025179 PLXNA2 Silent rs1609841 1 208367614 [A/G] NM_025179 PLXNA2 Silent rs17012158 1 208369825 [T/C] NM_025179 PLXNA2 Silent rs10863703 1 208375738 [T/C] NM_025179 PLXNA2 Silent rs10863704 1 208382156 [T/C] NM_025179 PLXNA2 Silent exm1749197 1 208383663 [C/G] NM_025179 PLXNA2 EXON Missense_V445L exm145473 1 208390162 [T/C] NM_025179 PLXNA2 EXON Missense_E369G exm145479 1 208390364 [A/G] NM_025179 PLXNA2 EXON Missense_R302W exm145484 1 208390415 [T/C] NM_025179 PLXNA2 EXON Missense_K285E exm145486 1 208390469 [T/C] NM_025179 PLXNA2 EXON Missense_A267T exm145488 1 208390516 [A/C] NM_025179 PLXNA2 EXON Missense_G251V exm145492 1 208390654 [T/C] NM_025179 PLXNA2 EXON Missense_R205Q exm145503 1 208390903 [T/G] NM_025179 PLXNA2 EXON Missense_S122Y exm145507 1 208390979 [C/G] NM_025179 PLXNA2 EXON Missense_P97A exm145509 1 208391023 [A/G] NM_025179 PLXNA2 EXON Missense_A82V exm145510 1 208391027 [A/C] NM_025179 PLXNA2 EXON Missense_V81L exm145517 1 208391098 [T/C] NM_025179 PLXNA2 EXON Missense_Q57R exm145518 1 208391131 [T/C] NM_025179 PLXNA2 EXON Missense_R46H exm145520 1 208391177 [A/G] NM_025179 PLXNA2 EXON Missense_P31S exm145526 1 208391254 [T/C] NM_025179 PLXNA2 EXON Missense_R5Q rs875044 1 208403258 [T/C] NM_025179 PLXNA2 Silent rs1537693 1 208404823 [T/C] NM_025179 PLXNA2 Silent rs2782934 1 208408503 [A/G] NM_025179 PLXNA2 Silent rs1335045 1 208414033 [T/C] NM_025179 PLXNA2 Silent rs1620298 1 208419288 [T/C] rs1781030 1 208424205 [T/C] rs12058868 1 208424905 [T/C] rs1445355 1 208432764 [T/C] rs11119027 1 208433883 [A/G] rs6703732 1 208443170 [T/C] rs1617731 1 208447524 [T/C] rs11119032 1 208453274 [T/C] rs6704329 1 208461343 [A/G] rs3121647 1 208464118 [T/G] rs1762463 1 208477423 [A/C] rs2897064 1 208490895 [T/C] rs17012371 1 208494119 [A/C] rs12402159 1 208507857 [T/C] rs4844419 1 208510805 [A/G] rs1499577 1 208511351 [A/C] rs7543864 1 208515347 [A/G] rs11119053 1 208526425 [T/C] rs7519519 1 208529031 [A/G] rs696981 1 208549846 [T/C] rs12138270 1 208552368 [A/G] rs701641 1 208554185 [T/C] rs1499588 1 208557123 [A/G] rs696979 1 208558547 [T/C] rs2163039 1 208561353 [T/C] rs710417 1 208578200 [A/G] rs696944 1 208583530 [A/C] rs710420 1 208593803 [A/G] rs12037447 1 208605593 [A/G] rs6662504 1 208606109 [A/G] rs701618 1 208611123 [A/G] rs12089705 1 208622869 [A/G] rs12122106 1 208623242 [A/C] rs701608 1 208623475 [T/G] rs701615 1 208658283 [T/C] rs2000161 1 208674351 [A/G] rs7551719 1 208676383 [A/G] rs11119075 1 208676718 [A/G] rs12036920 1 208677005 [A/G] rs1417953 1 208701907 [A/G] rs10863714 1 208710593 [A/G] rs7548249 1 208719848 [T/C] rs17012827 1 208732621 [T/C] rs17012886 1 208741251 [T/C] rs6540478 1 208755605 [T/C] rs17187582 1 208755804 [A/G] exm-rs17259784 1 208757586 [G/C] rs17259791 1 208761593 [T/C] rs12029495 1 208766610 [T/C] rs10779489 1 208772958 [A/C] rs6694783 1 208777606 [T/G] rs869521 1 208777895 [A/G] rs17259861 1 208781486 [T/G] rs1417077 1 208781507 [T/C] rs1340113 1 208787740 [A/G] rs12122043 1 208789949 [A/G] rs4391668 1 208804925 [T/G] rs2404678 1 208805287 [A/G] rs1166868 1 208813119 [T/C] exm2263869 1 208830611 [A/C] rs1340117 1 208830611 [A/C] rs12565141 1 208836238 [T/C] rs6664062 1 208855395 [T/C] rs10863723 1 208860293 [A/G] rs11119111 1 208864258 [T/C] rs1166879 1 208897416 [T/C] rs12063248 1 208897975 [T/C] rs4844437 1 208905262 [T/G] NR_146914 LINC01717 Silent rs12404464 1 208929732 [A/G] rs12076253 1 208930265 [A/G] rs17013220 1 208935974 [A/G] rs17259916 1 208937403 [T/G] rs6690048 1 208941395 [T/G] rs11119127 1 208948034 [A/G] rs12076644 1 208949367 [A/G] rs1166923 1 208960876 [T/C] rs17013392 1 208968409 [T/G] rs1166907 1 208974935 [T/C] rs10863726 1 208986593 [A/G] rs12408989 1 209007778 [A/C] rs12569218 1 209034761 [A/G] exm2250524 1 209034761 [A/G] rs7515208 1 209052333 [A/G] rs2211045 1 209054775 [A/G] rs12130305 1 209073907 [A/C] rs4844732 1 209083609 [T/C] rs7368359 1 209088514 [T/C] rs7516842 1 209100322 [A/C] rs12738015 1 209113459 [A/C] rs4129434 1 209114372 [T/C] rs10735503 1 209117500 [T/G] rs6697933 1 209121854 [T/C] rs1924250 1 209129752 [T/C] rs10863734 1 209141386 [A/C] rs6685924 1 209149149 [A/G] rs7549301 1 209162412 [T/C] rs10863739 1 209162928 [A/G] rs1078550 1 209181761 [A/G] rs4554722 1 209182220 [A/C] rs2807403 1 209182651 [A/G] rs4844743 1 209192139 [T/C] rs11119208 1 209211968 [A/G] rs17013958 1 209214390 [T/C] rs6685963 1 209222499 [T/C] rs10735505 1 209233483 [A/G] rs7540125 1 209238603 [A/C] rs6540503 1 209239811 [T/C] rs10494916 1 209245859 [T/G] rs6692331 1 209256181 [A/G] rs1174556 1 209276472 [A/G] rs11119220 1 209283460 [A/G] rs6694118 1 209291638 [A/G] rs6540511 1 209305123 [A/C] rs11119229 1 209316021 [T/C] rs10779502 1 209317968 [T/C] rs17187974 1 209325941 [T/C] rs6672714 1 209331789 [A/G] rs11119231 1 209336246 [T/C] rs4844773 1 209337763 [A/G] rs4844779 1 209345380 [T/G] rs2970558 1 209380481 [T/G] rs10863764 1 209400118 [A/G] rs6419460 1 209412567 [T/C] rs2788154 1 209420098 [A/G] rs2843170 1 209456703 [T/C] rs1553623 1 209460346 [T/C] rs2495295 1 209489688 [T/C] rs1021993 1 209512373 [A/G] rs10494924 1 209527706 [T/G] rs17014370 1 209540091 [A/G] rs12142846 1 209560036 [T/C] rs7548177 1 209575391 [A/G] rs1988163 1 209581483 [A/C] exm2263847 1 209581483 [A/C] rs742678 1 209588509 [T/C] exm145531 1 209602712 [T/G] NR_145433,NR_145436,NR_145435,NR_145437,NR_145434 MIR205HG,MIR205HG,MIR205HG,MIR205HG,MIR205HG EXON Silent,Silent,Silent,Silent,Silent exm145535 1 209603782 [A/C] NR_145433,NR_145436,NR_145435,NR_145437,NR_145434 MIR205HG,MIR205HG,MIR205HG,MIR205HG,MIR205HG EXON Silent,Silent,Silent,Silent,Silent exm145537 1 209603807 [A/G] NR_145433,NR_145436,NR_145435,NR_145437,NR_145434 MIR205HG,MIR205HG,MIR205HG,MIR205HG,MIR205HG EXON Silent,Silent,Silent,Silent,Silent exm145545 1 209605611 [A/G] NR_145433,NR_145436,NR_145435,NR_145437,NR_145434 MIR205HG,MIR205HG,MIR205HG,MIR205HG,MIR205HG EXON Silent,Silent,Silent,Silent,Silent rs6690362 1 209608020 [A/C] rs6679530 1 209619557 [T/C] rs2179655 1 209621776 [A/C] rs7526722 1 209632204 [T/C] rs10863774 1 209643416 [T/C] rs17014581 1 209660134 [T/C] rs4844840 1 209661527 [A/C] rs17014586 1 209662378 [T/C] rs17014649 1 209682162 [T/C] rs4844477 1 209685058 [T/C] rs1883356 1 209694672 [A/G] exm2259940 1 209697447 [T/C] rs17014696 1 209705655 [A/C] rs2356932 1 209706685 [A/G] rs12130212 1 209727257 [A/T] rs10746420 1 209728590 [T/C] rs11119309 1 209742782 [A/G] rs6695896 1 209745395 [T/G] rs17014820 1 209756419 [A/C] rs926386 1 209758758 [T/C] NM_020439 CAMK1G Silent newrs140469539 1 209768335 [T/C] NM_020439 CAMK1G EXON Nonsense_R3X exm145553 1 209768356 [A/G] NM_020439 CAMK1G EXON Missense_S10G variant.9763 1 209768421 [T/G] NM_020439 CAMK1G Silent rs6690557 1 209768979 [T/G] NM_020439 CAMK1G Silent exm145559 1 209773416 [T/C] NM_020439 CAMK1G EXON Missense_R61W rs9430004 1 209775800 [T/C] NM_020439 CAMK1G Silent rs12402938 1 209779355 [A/G] NM_020439 CAMK1G Silent rs760833 1 209781125 [T/C] NM_020439 CAMK1G Silent rs6658827 1 209782121 [T/G] NM_020439 CAMK1G Silent exm145587 1 209783222 [C/G] NM_020439 CAMK1G EXON Missense_E259Q exm145595 1 209784873 [T/G] NM_020439 CAMK1G EXON Missense_K297N variant.9764 1 209784893 [A/G] NM_020439 CAMK1G EXON Nonsense_W304X exm145612 1 209785206 [A/G] NM_020439 CAMK1G EXON Missense_V329I exm145621 1 209785333 [A/C] NM_020439 CAMK1G EXON Missense_T371N exm145628 1 209785484 [A/C] NM_020439 CAMK1G EXON Missense_S421R exm1749307 1 209785536 [T/C] NM_020439 CAMK1G EXON Missense_L439F rs2272880 1 209786078 [A/G] NM_020439 CAMK1G Silent rs2206107 1 209786883 [T/C] NM_020439 CAMK1G EXON Silent rs2566 1 209788514 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Silent,Silent,Silent exm145641 1 209788656 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_H1160R,Missense_H1160R,Missense_H1160R exm145645 1 209788699 [A/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_D1146Y,Missense_D1146Y,Missense_D1146Y exm145650 1 209788731 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R1135Q,Missense_R1135Q,Missense_R1135Q exm2232404 1 209789830 [T/A] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_M1123K,Missense_M1123K,Missense_M1123K exm145652 1 209789875 [A/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_V1108G,Missense_V1108G,Missense_V1108G exm145653 1 209789887 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R1104Q,Missense_R1104Q,Missense_R1104Q exm145660 1 209790859 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R1042W,Missense_R1042W,Missense_R1042W exm145662 1 209790915 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R1023Q,Missense_R1023Q,Missense_R1023Q exm145666 1 209791293 [T/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_T1004P,Missense_T1004P,Missense_T1004P exm145669 1 209791340 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R988Q,Missense_R988Q,Missense_R988Q exm2275542 1 209791341 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R988W,Missense_R988W,Missense_R988W exm145670 1 209791358 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_D982G,Missense_D982G,Missense_D982G exm145672 1 209791370 [G/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_G978A,Missense_G978A,Missense_G978A exm145678 1 209791833 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R958H,Missense_R958H,Missense_R958H exm145683 1 209791911 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_M932T,Missense_M932T,Missense_M932T exm145684 1 209791929 [T/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_A926D,Missense_A926D,Missense_A926D rs2076222 1 209791929 [T/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_A926D,Missense_A926D,Missense_A926D exm145686 1 209791960 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_V916M,Missense_V916M,Missense_V916M exm145688 1 209791983 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_T908I,Missense_T908I,Missense_T908I rs17014906 1 209793471 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 Silent,Silent,Silent exm145700 1 209796018 [C/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_A855G,Missense_A855G,Missense_A855G exm145701 1 209796329 [A/T] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_M852L,Missense_M852L,Missense_M852L exm145702 1 209796341 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R848W,Missense_R848W,Missense_R848W exm145703 1 209796364 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R840Q,Missense_R840Q,Missense_R840Q exm1749351 1 209796948 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R754W,Missense_R754W,Missense_R754W exm145714 1 209796950 [A/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_V753G,Missense_V753G,Missense_V753G exm145724 1 209797061 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R716Q,Missense_R716Q,Missense_R716Q exm145728 1 209797253 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_N690S,Missense_N690S,Missense_N690S exm145729 1 209797256 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_F689S,Missense_F689S,Missense_F689S var_1_209797286 1 209797286 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_P679L,Missense_P679L,Missense_P679L exm145736 1 209797344 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Nonsense_R660X,Nonsense_R660X,Nonsense_R660X exm145740 1 209799066 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Nonsense_R635X,Nonsense_R635X,Nonsense_R635X exm145746 1 209799107 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_A621V,Missense_A621V,Missense_A621V exm145749 1 209799150 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_A607T,Missense_A607T,Missense_A607T exm145752 1 209799177 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R598C,Missense_R598C,Missense_R598C exm145753 1 209799192 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R593W,Missense_R593W,Missense_R593W exm145762 1 209799264 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Nonsense_R569X,Nonsense_R569X,Nonsense_R569X exm145766 1 209799292 [A/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_L559F,Missense_L559F,Missense_L559F exm145772 1 209800230 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_V527M,Missense_V527M,Missense_V527M exm1749365 1 209800865 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R450C,Missense_R450C,Missense_R450C exm145801 1 209801394 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_P425L,Missense_P425L,Missense_P425L rs2076351 1 209801519 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Synonymous_P383P,Synonymous_P383P,Synonymous_P383P exm145817 1 209803118 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R366W,Missense_R366W,Missense_R366W exm145820 1 209803163 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_E351K,Missense_E351K,Missense_E351K exm145822 1 209803199 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_Y339H,Missense_Y339H,Missense_Y339H exm1749379 1 209803974 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_A310V,Missense_A310V,Missense_A310V exm145830 1 209803992 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_P304L,Missense_P304L,Missense_P304L exm1749381 1 209804028 [A/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R292L,Missense_R292L,Missense_R292L exm145840 1 209805938 [T/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_T271N,Missense_T271N,Missense_T271N exm2250527 1 209805973 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Synonymous_C259C,Synonymous_C259C,Synonymous_C259C exm145845 1 209806016 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R245H,Missense_R245H,Missense_R245H exm145847 1 209806061 [G/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R230T,Missense_R230T,Missense_R230T variant.9776 1 209806427 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Nonsense_Q206X,Nonsense_Q206X,Nonsense_Q206X exm145851 1 209806461 [A/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_M194I,Missense_M194I,Missense_M194I variant.9777 1 209806480 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 Silent,Silent,Silent rs12410975 1 209807782 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 Silent,Silent,Silent exm145854 1 209807799 [A/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_G186V,Missense_G186V,Missense_G186V exm145856 1 209807809 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R183C,Missense_R183C,Missense_R183C exm145857 1 209807815 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_N181D,Missense_N181D,Missense_N181D exm145863 1 209807952 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R135H,Missense_R135H,Missense_R135H exm145869 1 209811293 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_D111G,Missense_D111G,Missense_D111G rs2072941 1 209811595 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 Silent,Silent,Silent rs2236896 1 209817981 [T/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 Silent,Silent,Silent rs2298928 1 209822859 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 Silent,Silent,Silent exm145876 1 209823367 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R42Q,Missense_R42Q,Missense_R42Q exm145879 1 209823403 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_V30A,Missense_V30A,Missense_V30A exm145880 1 209823424 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R23H,Missense_R23H,Missense_R23H exm145881 1 209823425 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R23C,Missense_R23C,Missense_R23C indel.9782 1 209823460 [D/I] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 EXON variant.9783 1 209823465 [T/C] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 Silent,Silent,Silent rs2076358 1 209823936 [A/G] NM_001017402,NM_001127641,NM_000228 LAMB3,LAMB3,LAMB3 Silent,Silent,Silent rs11580294 1 209839374 [A/G] NR_134510,NR_134509,NR_134511 LOC101930114,LOC101930114,LOC101930114 Silent,Silent,Silent kgp15876736 1 209848853 [A/G] NR_134510,NR_134509,NM_015714 LOC101930114,LOC101930114,G0S2 EXON Silent,Silent,Silent kgp2722084 1 209849002 [T/C] NR_134510,NR_134509,NM_015714 LOC101930114,LOC101930114,G0S2 EXON Silent,Silent,Silent exm145896 1 209849039 [A/G] NR_134510,NR_134509,NM_015714 LOC101930114,LOC101930114,G0S2 EXON Silent,Silent,Missense_V4I exm145905 1 209849303 [A/G] NR_134510,NR_134509,NM_015714 LOC101930114,LOC101930114,G0S2 EXON Silent,Silent,Missense_G92S exm145906 1 209849306 [A/G] NR_134510,NR_134509,NM_015714 LOC101930114,LOC101930114,G0S2 EXON Silent,Silent,Missense_G93S exm145908 1 209849340 [A/G] NR_134510,NR_134509,NM_015714 LOC101930114,LOC101930114,G0S2 EXON Silent,Silent,Missense_X104W kgp8701642 1 209849406 [T/G] NR_134510,NR_134509,NM_015714 LOC101930114,LOC101930114,G0S2 EXON Silent,Silent,Silent kgp7039066 1 209849535 [T/G] NR_134510,NR_134509,NM_015714 LOC101930114,LOC101930114,G0S2 EXON Silent,Silent,Silent GA001645 1 209849721 [A/C] NR_134510,NR_134509,NM_015714 LOC101930114,LOC101930114,G0S2 EXON Silent,Silent,Silent kgp5152845 1 209849722 [T/C] NR_134510,NR_134509,NM_015714 LOC101930114,LOC101930114,G0S2 EXON Silent,Silent,Silent rs846908 1 209858453 [A/G] NR_134510,NR_134509 LOC101930114,LOC101930114 Silent,Silent kgp15267080 1 209859620 [A/G] NR_134510,NR_134509,NM_001206741,NM_181755 LOC101930114,LOC101930114,HSD11B1,HSD11B1 EXON Silent,Silent,Silent,Silent rs10863782 1 209872590 [A/G] NR_134510,NR_134509,NM_001206741,NM_181755 LOC101930114,LOC101930114,HSD11B1,HSD11B1 Silent,Silent,Silent,Silent rs13306421 1 209878286 [A/G] NR_134510,NR_134509,NM_001206741,NM_181755,NM_005525 LOC101930114,LOC101930114,HSD11B1,HSD11B1,HSD11B1 EXON Silent,Silent,Silent,Silent,Silent 1KG_1_209879176 1 209879176 [I/D] NR_134510,NR_134509,NM_001206741,NM_181755,NM_005525 LOC101930114,LOC101930114,HSD11B1,HSD11B1,HSD11B1 EXON kgp15549310 1 209879184 [T/C] NR_134510,NR_134509,NM_001206741,NM_181755,NM_005525 LOC101930114,LOC101930114,HSD11B1,HSD11B1,HSD11B1 EXON Silent,Silent,Synonymous_V39V,Synonymous_V39V,Synonymous_V39V kgp2845044 1 209879232 [A/G] NR_134510,NR_134509,NM_001206741,NM_181755,NM_005525 LOC101930114,LOC101930114,HSD11B1,HSD11B1,HSD11B1 EXON Silent,Silent,Synonymous_A55A,Synonymous_A55A,Synonymous_A55A newrs12086634 1 209880259 [T/G] NR_134510,NR_134509,NM_001206741,NM_181755,NM_005525 LOC101930114,LOC101930114,HSD11B1,HSD11B1,HSD11B1 Silent,Silent,Silent,Silent,Silent rs7547027 1 209897772 [A/G] NR_134510,NM_001206741,NM_181755,NM_005525 LOC101930114,HSD11B1,HSD11B1,HSD11B1 Silent,Silent,Silent,Silent rs12059226 1 209906675 [A/G] NR_134510,NM_001206741,NM_181755,NM_005525 LOC101930114,HSD11B1,HSD11B1,HSD11B1 Silent,Silent,Silent,Silent kgp15808422 1 209908025 [T/C] NR_134510,NM_001206741,NM_181755,NM_005525 LOC101930114,HSD11B1,HSD11B1,HSD11B1 EXON Silent,Silent,Silent,Silent kgp6225125 1 209908100 [A/G] NR_134510,NM_001206741,NM_181755,NM_005525 LOC101930114,HSD11B1,HSD11B1,HSD11B1 EXON Silent,Silent,Silent,Silent rs17015076 1 209912593 [T/C] NR_134510 LOC101930114 Silent rs4844891 1 209914409 [A/C] NR_134510 LOC101930114 Silent rs7532324 1 209918090 [A/G] rs6702301 1 209923154 [T/C] rs7532709 1 209925616 [T/C] rs2272866 1 209929453 [T/G] NR_109871,NM_001320144,NM_025228 TRAF3IP3,TRAF3IP3,TRAF3IP3 EXON Silent,Silent,Silent rs10489341 1 209932121 [T/C] NR_109871,NM_001320144,NM_025228,NM_001320143 TRAF3IP3,TRAF3IP3,TRAF3IP3,TRAF3IP3 EXON Silent,Silent,Silent,Silent exm145943 1 209933400 [T/C] NR_109871,NM_001320144,NM_025228,NM_001320143 TRAF3IP3,TRAF3IP3,TRAF3IP3,TRAF3IP3 EXON Silent,Missense_P6S,Missense_P6S,Missense_P6S exm145948 1 209933491 [A/G] NR_109871,NM_001320144,NM_025228,NM_001320143 TRAF3IP3,TRAF3IP3,TRAF3IP3,TRAF3IP3 EXON Silent,Missense_R36H,Missense_R36H,Missense_R36H exm145956 1 209933608 [A/G] NR_109871,NM_001320144,NM_025228,NM_001320143 TRAF3IP3,TRAF3IP3,TRAF3IP3,TRAF3IP3 EXON Silent,Missense_E75G,Missense_E75G,Missense_E75G exm145960 1 209933659 [A/G] NR_109871,NM_001320144,NM_025228,NM_001320143 TRAF3IP3,TRAF3IP3,TRAF3IP3,TRAF3IP3 EXON Silent,Missense_R92Q,Missense_R92Q,Missense_R92Q exm145966 1 209936196 [A/G] NR_109871,NM_001320144,NM_025228,NM_001320143 TRAF3IP3,TRAF3IP3,TRAF3IP3,TRAF3IP3 EXON Silent,Missense_D158N,Missense_D178N,Missense_D178N rs654984 1 209937382 [T/C] NR_109871,NM_001320144,NM_025228,NM_001320143 TRAF3IP3,TRAF3IP3,TRAF3IP3,TRAF3IP3 Silent,Silent,Silent,Silent exm2268822 1 209939599 [T/C] NR_109871,NM_001320144,NM_025228,NM_001320143 TRAF3IP3,TRAF3IP3,TRAF3IP3,TRAF3IP3 Silent,Silent,Silent,Silent exm145978 1 209946310 [G/C] NR_109871,NM_001320144,NM_025228,NM_001320143,NM_001287754 TRAF3IP3,TRAF3IP3,TRAF3IP3,TRAF3IP3,TRAF3IP3 EXON Silent,Missense_D220E,Missense_D240E,Missense_D240E,Silent indel.9788 1 209948836 [I/D] NR_109871,NM_001320144,NM_025228,NM_001320143,NM_001287754 TRAF3IP3,TRAF3IP3,TRAF3IP3,TRAF3IP3,TRAF3IP3 rs649275 1 209950681 [T/C] NR_109871,NM_001320144,NM_025228,NM_001320143,NM_001287754 TRAF3IP3,TRAF3IP3,TRAF3IP3,TRAF3IP3,TRAF3IP3 Silent,Silent,Silent,Silent,Silent exm145993 1 209950760 [G/C] NR_109871,NM_001320144,NM_025228,NM_001320143,NM_001287754 TRAF3IP3,TRAF3IP3,TRAF3IP3,TRAF3IP3,TRAF3IP3 EXON Silent,Missense_Q353E,Missense_Q373E,Missense_Q373E,Missense_Q109E variant.9793 1 209953956 [A/G] NM_001320144,NM_025228,NM_001320143,NM_152485 TRAF3IP3,TRAF3IP3,TRAF3IP3,C1orf74 EXON Silent,Silent,Silent,Silent rs651141 1 209955848 [A/C] NM_152485 C1orf74 EXON Silent exm146039 1 209956402 [T/C] NM_152485 C1orf74 EXON Missense_N193S exm146040 1 209956426 [A/C] NM_152485 C1orf74 EXON Missense_F185C exm146044 1 209956542 [A/C] NM_152485 C1orf74 EXON Missense_L146F exm1749463 1 209956796 [T/C] NM_152485 C1orf74 EXON Missense_G62R rs1044516 1 209959614 [T/G] NM_006147,NM_001206696 IRF6,IRF6 EXON Silent,Silent rs680331 1 209959872 [A/G] NM_006147,NM_001206696 IRF6,IRF6 EXON Silent,Silent indel.9796 1 209961964 [I/D] NM_006147,NM_001206696 IRF6,IRF6 EXON exm146060 1 209961970 [C/G] NM_006147,NM_001206696 IRF6,IRF6 EXON Missense_R400P,Missense_R305P exm146069 1 209963841 [A/G] NM_006147,NM_001206696 IRF6,IRF6 EXON Synonymous_S353S,Synonymous_S258S exm146075 1 209964080 [T/C] NM_006147,NM_001206696 IRF6,IRF6 EXON Missense_V274I,Missense_V179I rs2235371 1 209964080 [T/C] NM_006147,NM_001206696 IRF6,IRF6 EXON Missense_V274I,Missense_V179I exm1749474 1 209964095 [T/C] NM_006147,NM_001206696 IRF6,IRF6 EXON Missense_V269I,Missense_V174I exm146077 1 209964123 [T/C] NM_006147,NM_001206696 IRF6,IRF6 EXON Missense_M259I,Missense_M164I exm146081 1 209965660 [T/C] NM_006147,NM_001206696 IRF6,IRF6 EXON Missense_I207M,Missense_I112M exm146082 1 209968637 [T/C] NM_006147,NM_001206696 IRF6,IRF6 EXON Missense_N169S,Missense_N74S rs2013162 1 209968684 [A/C] NM_006147,NM_001206696 IRF6,IRF6 EXON Synonymous_S153S,Synonymous_S58S rs17015259 1 209982923 [A/G] exm-rs10863790 1 209988047 [A/C] exm-rs642961 1 209989270 [A/G] rs9430018 1 209996542 [T/G] rs11584081 1 209997448 [A/G] exm146096 1 210001460 [A/G] NM_014388 UTP25 EXON Missense_K18E exm146109 1 210004199 [G/C] NM_014388 UTP25 EXON Missense_Q67E exm146112 1 210004221 [G/C] NM_014388 UTP25 EXON Missense_R74T exm146117 1 210004332 [A/G] NM_014388 UTP25 EXON Missense_G111D exm146120 1 210004344 [A/G] NM_014388 UTP25 EXON Missense_S115N rs656566 1 210006603 [T/C] NM_014388 UTP25 EXON Synonymous_P154P exm146132 1 210010204 [A/G] NM_014388 UTP25 EXON Missense_K237R indel.9799 1 210010321 [D/I] NM_014388 UTP25 EXON exm146137 1 210010324 [G/C] NM_014388 UTP25 EXON Missense_P277R exm146144 1 210010488 [T/C] NM_014388 UTP25 EXON Missense_R332C indel.9801 1 210012215 [D/I] NM_014388 UTP25 exm146157 1 210012437 [A/G] NM_014388 UTP25 EXON Missense_V416I exm146162 1 210014224 [T/C] NM_014388 UTP25 EXON Nonsense_R437X exm146179 1 210015757 [T/G] NM_014388 UTP25 EXON Missense_V545L exm146189 1 210015990 [A/T] NM_014388 UTP25 EXON Missense_H577Q exm2250530 1 210016856 [A/G] NM_014388 UTP25 EXON Synonymous_T614T exm146201 1 210016891 [A/G] NM_014388 UTP25 EXON Missense_R626H exm146202 1 210016917 [A/G] NM_014388 UTP25 EXON Missense_E635K exm146203 1 210016920 [A/T] NM_014388 UTP25 EXON Missense_L636M rs583814 1 210020971 [T/C] NM_014388 UTP25 Silent rs17015379 1 210023765 [A/G] NM_014388 UTP25 Silent 1KG_1_210024646 1 210024646 [D/I] NM_014388 UTP25 EXON exm146217 1 210024715 [A/G] NM_014388 UTP25 EXON Missense_V732M rs7548533 1 210040672 [T/C] rs7537070 1 210043565 [A/G] rs12063989 1 210049893 [T/C] rs932347 1 210055630 [T/C] rs6674507 1 210066145 [A/C] rs12140373 1 210086539 [A/G] rs7528647 1 210122322 [A/G] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent rs1040425 1 210134548 [A/G] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent rs12034991 1 210145298 [A/G] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent rs7525980 1 210156770 [A/G] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent rs4844936 1 210176869 [T/C] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent exm146235 1 210187118 [A/G] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_R30G,Missense_R113G,Missense_R68G,Silent,Missense_R113G,Missense_R68G exm146241 1 210194555 [T/C] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_S95L,Missense_S178L,Missense_S133L,Silent,Missense_S178L,Missense_S133L exm146243 1 210194557 [A/G] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_A96T,Missense_A179T,Missense_A134T,Silent,Missense_A179T,Missense_A134T rs11119394 1 210194685 [A/G] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent rs227228 1 210197495 [T/C] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent exm146246 1 210267700 [T/C] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_P121L,Missense_P204L,Missense_P159L,Silent,Missense_P204L,Missense_P159L exm146251 1 210267811 [A/G] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_N158S,Missense_N241S,Missense_N196S,Silent,Missense_N241S,Missense_N196S exm146254 1 210267896 [A/T] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_E186D,Missense_E269D,Missense_E224D,Silent,Missense_E269D,Missense_E224D exm146257 1 210273357 [A/G] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_D201N,Missense_D284N,Missense_D239N,Silent,Missense_D284N,Missense_D239N exm146264 1 210273523 [A/G] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_G256D,Missense_G339D,Missense_G294D,Silent,Missense_G339D,Missense_G294D exm146268 1 210273697 [A/G] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_R314H,Missense_R397H,Missense_R352H,Silent,Missense_R397H,Missense_R352H rs2130628 1 210291476 [A/G] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent rs2046850 1 210304319 [T/C] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent rs1002382 1 210312760 [A/G] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent rs10494925 1 210331377 [A/G] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent exm146281 1 210334143 [A/G] NM_001256006,NM_001146261,NM_153262,NR_027459,NM_001146264,NM_001146262 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_R437H,Missense_R539H,Missense_R475H,Silent,Missense_R520H,Missense_R494H rs11119426 1 210340969 [A/G] rs2485893 1 210348155 [A/G] rs12569033 1 210354380 [T/C] rs12567108 1 210354442 [A/G] rs12094311 1 210369136 [A/G] rs11812030 1 210370700 [T/C] rs2485901 1 210370761 [T/G] rs2485902 1 210370851 [A/G] rs2185059 1 210386561 [A/G] rs2494184 1 210386892 [T/C] rs591594 1 210394270 [A/G] rs663987 1 210399239 [A/G] rs677520 1 210399652 [T/C] rs2273047 1 210406106 [T/G] NR_024337 SERTAD4-AS1 Silent exm146299 1 210411339 [A/G] NM_001354173,NM_019605 SERTAD4,SERTAD4 EXON Missense_E12K,Missense_E12K exm146300 1 210411343 [G/C] NM_001354173,NM_019605 SERTAD4,SERTAD4 EXON Missense_P13R,Missense_P13R exm146305 1 210411414 [A/C] NM_001354173,NM_019605 SERTAD4,SERTAD4 EXON Missense_P37T,Missense_P37T exm146307 1 210411420 [A/C] NM_001354173,NM_019605 SERTAD4,SERTAD4 EXON Missense_P39T,Missense_P39T exm146308 1 210411426 [A/G] NM_001354173,NM_019605 SERTAD4,SERTAD4 EXON Missense_G41R,Missense_G41R exm146309 1 210411438 [A/G] NM_001354173,NM_019605 SERTAD4,SERTAD4 EXON Missense_A45T,Missense_A45T exm146312 1 210411457 [A/G] NM_001354173,NM_019605 SERTAD4,SERTAD4 EXON Missense_R51Q,Missense_R51Q exm146317 1 210412843 [T/C] NM_001354173,NM_019605 SERTAD4,SERTAD4 EXON Missense_H61Y,Missense_H61Y rs654523 1 210413739 [T/C] NM_001354173,NM_019605 SERTAD4,SERTAD4 Silent,Silent exm146321 1 210414904 [T/C] NM_001354173,NM_019605 SERTAD4,SERTAD4 EXON Silent,Missense_T98I exm146333 1 210415135 [A/G] NM_001354173,NM_019605 SERTAD4,SERTAD4 EXON Silent,Missense_R175Q exm146342 1 210415275 [A/G] NM_001354173,NM_019605 SERTAD4,SERTAD4 EXON Silent,Missense_A222T exm146344 1 210415352 [A/T] NM_001354173,NM_019605 SERTAD4,SERTAD4 EXON Silent,Missense_D247E exm146351 1 210415569 [A/T] NM_001354173,NM_019605 SERTAD4,SERTAD4 EXON Silent,Missense_T320S exm146352 1 210415570 [T/C] NM_001354173,NM_019605 SERTAD4,SERTAD4 EXON Silent,Missense_T320I exm146353 1 210415620 [T/C] NM_001354173,NM_019605 SERTAD4,SERTAD4 EXON Silent,Missense_R337W exm2259948 1 210418827 [T/C] NM_001354173,NM_019605 SERTAD4,SERTAD4 EXON Silent,Silent rs634601 1 210421594 [T/C] rs685532 1 210443474 [T/C] rs6666540 1 210443546 [T/C] rs689248 1 210463122 [T/C] rs633352 1 210467047 [A/G] rs12739013 1 210468160 [A/G] rs12117063 1 210486746 [A/C] rs6666552 1 210494973 [A/G] rs6697682 1 210500594 [A/G] rs589027 1 210505726 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs1999890 1 210510894 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs6696657 1 210518082 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs1338289 1 210519658 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent variant.9803 1 210522329 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Nonsense_R4X,Nonsense_R4X,Nonsense_R4X,Silent,Nonsense_R4X,Nonsense_R4X rs10489388 1 210527418 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs4845004 1 210528907 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs4845006 1 210529582 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent exm146362 1 210536197 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_E31D,Missense_E31D,Missense_E31D,Missense_E32D,Missense_E31D,Missense_E31D exm146367 1 210536249 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_G49R,Missense_G49R,Missense_G49R,Missense_G50R,Missense_G49R,Missense_G49R newrs149074859 1 210536268 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs17016036 1 210537248 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs3765874 1 210543246 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs3765871 1 210547213 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs3819987 1 210550034 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs2294845 1 210553523 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs3765865 1 210559381 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent variant.9805 1 210560831 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Nonsense_W60X,Nonsense_W60X,Nonsense_W60X,Nonsense_W61X,Nonsense_W60X,Nonsense_W60X exm146375 1 210560867 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_V72G,Missense_V72G,Missense_V72G,Missense_V73G,Missense_V72G,Missense_V72G rs3765863 1 210561713 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs1076708 1 210567430 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs6540592 1 210572449 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent exm146381 1 210573873 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_P112L,Silent,Missense_P112L,Missense_P113L,Silent,Missense_P112L exm146385 1 210573929 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_R131W,Silent,Missense_R131W,Missense_R132W,Silent,Missense_R131W rs10863825 1 210577134 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent exm146397 1 210577884 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_S182N,Silent,Missense_S182N,Missense_S183N,Missense_S117N,Missense_S182N exm146398 1 210577901 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_C188R,Silent,Missense_C188R,Missense_C189R,Missense_C123R,Missense_C188R rs3765857 1 210582538 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs2357586 1 210589655 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent exm2268823 1 210590153 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs926579 1 210590153 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent exm146409 1 210591562 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_R250H,Missense_R113H,Missense_R250H,Missense_R251H,Missense_R185H,Missense_R250H rs4845021 1 210598837 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs926578 1 210607991 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs3765851 1 210613616 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12121798 1 210615064 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12025108 1 210620492 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs742563 1 210622527 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs3819985 1 210622790 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12025490 1 210631289 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent exm146417 1 210637927 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_R312H,Missense_R175H,Missense_R312H,Missense_R313H,Missense_R247H,Missense_R312H exm146422 1 210637959 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_R323C,Missense_R186C,Missense_R323C,Missense_R324C,Missense_R258C,Missense_R323C exm146424 1 210637989 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_G333R,Missense_G196R,Missense_G333R,Missense_G334R,Missense_G268R,Missense_G333R rs981754 1 210641438 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs7530369 1 210647296 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12031180 1 210652685 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs2473621 1 210660195 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs17260438 1 210662875 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs6675248 1 210664959 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs7546331 1 210665583 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12748886 1 210672483 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12759944 1 210674600 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs6672183 1 210679612 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs10863837 1 210683732 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs10746425 1 210687396 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs11119524 1 210694931 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs6691759 1 210699389 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs4845045 1 210707065 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs1316508 1 210710747 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs2069151 1 210717147 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12130516 1 210721874 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12040304 1 210729897 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs2501910 1 210736508 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs17016475 1 210737854 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12217125 1 210750063 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent exm146431 1 210761310 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_T371I,Missense_T234I,Missense_T371I,Missense_T372I,Missense_T306I,Missense_T371I exm146435 1 210761346 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_D383G,Missense_D246G,Missense_D383G,Missense_D384G,Missense_D318G,Missense_D383G exm146438 1 210761373 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_N392S,Missense_N255S,Missense_N392S,Missense_N393S,Missense_N327S,Missense_N392S exm146441 1 210761405 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_R403W,Missense_R266W,Missense_R403W,Missense_R404W,Missense_R338W,Missense_R403W rs6682840 1 210763491 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs11119547 1 210772300 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12745924 1 210775500 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs6540610 1 210781750 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent exm146451 1 210796970 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_G449D,Missense_G312D,Missense_G449D,Missense_G450D,Missense_G384D,Missense_G449D rs4951675 1 210800547 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs3935665 1 210807437 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs6683572 1 210818347 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs10863847 1 210822016 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs6540617 1 210823634 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12121954 1 210830431 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12116836 1 210831820 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs1890843 1 210836847 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs10746432 1 210837691 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs7413508 1 210839705 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs1970425 1 210840755 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent exm146458 1 210847683 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_V482M,Missense_V345M,Missense_V482M,Missense_V483M,Missense_V417M,Missense_V482M exm146460 1 210847696 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_W486L,Missense_W349L,Missense_W486L,Missense_W487L,Missense_W421L,Missense_W486L rs4366378 1 210847740 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Silent,Silent,Silent,Silent,Silent,Silent rs10863850 1 210848224 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Silent,Silent,Silent,Silent,Silent,Silent exm146477 1 210856825 [T/G] NM_172362,NM_002238 KCNH1,KCNH1 EXON Missense_Q923P,Missense_Q896P exm146488 1 210857092 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 EXON Missense_R834H,Missense_R807H exm146493 1 210857116 [A/C] NM_172362,NM_002238 KCNH1,KCNH1 EXON Missense_G826V,Missense_G799V exm146504 1 210857225 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 EXON Missense_V790M,Missense_V763M exm146511 1 210857261 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 EXON Missense_A778T,Missense_A751T exm146513 1 210857266 [G/C] NM_172362,NM_002238 KCNH1,KCNH1 EXON Missense_A776G,Missense_A749G exm146518 1 210857431 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 EXON Missense_M721T,Missense_M694T rs12141923 1 210860558 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6540619 1 210862656 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6686046 1 210874099 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6681860 1 210893635 [A/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1538755 1 210893875 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1953951 1 210901459 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent exm2250565 1 210902915 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1890844 1 210907239 [A/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs10494929 1 210927618 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1934636 1 210929893 [A/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs9430048 1 210930435 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1777264 1 210939931 [A/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1777255 1 210955200 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6694502 1 210967608 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs7553708 1 210978485 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1573159 1 210982084 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs10863858 1 210983994 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs7532949 1 210984565 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6658580 1 210985460 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs4282878 1 210990713 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1418973 1 210994339 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs4098807 1 211000020 [T/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6695591 1 211002232 [T/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs7556358 1 211006126 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs17016986 1 211014027 [T/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs4532912 1 211021787 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs4951674 1 211034143 [T/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs9701252 1 211041590 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs12122965 1 211047777 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs11119624 1 211047846 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1125262 1 211057186 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs924569 1 211079618 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1777250 1 211082285 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1160575 1 211085683 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs4951487 1 211088400 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1875435 1 211089156 [T/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1501555 1 211097125 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1354112 1 211098350 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs7529770 1 211108733 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs12566456 1 211135613 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6680997 1 211163369 [T/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs7526579 1 211185917 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs924568 1 211187663 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs10494931 1 211187730 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs12760791 1 211188937 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs11582507 1 211191894 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs12134819 1 211202705 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6540647 1 211208401 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs12124026 1 211218816 [A/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6540652 1 211230021 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs4620600 1 211255936 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs946143 1 211258161 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs9970961 1 211263253 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs12735839 1 211267168 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6660415 1 211282681 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs4512717 1 211288097 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6540658 1 211296202 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent variant.9813 1 211307204 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs3811395 1 211308116 [A/G] rs2185069 1 211311215 [A/G] rs6540664 1 211331893 [A/G] rs9430058 1 211339584 [T/C] rs1572650 1 211351594 [T/C] rs3111229 1 211363628 [T/C] rs1538286 1 211372063 [T/C] exm2259961 1 211383129 [T/C] rs1361193 1 211383129 [T/C] rs3125829 1 211405423 [T/C] exm2268824 1 211415358 [T/C] rs11811405 1 211425658 [T/G] indel.9814 1 211433511 [I/D] NM_001350070,NM_001136224,NM_001136223,NR_146434,NM_001136225,NR_146432,NM_001350069,NR_146433,NM_018254 RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3 rs6679980 1 211433672 [T/C] NM_001350070,NM_001136224,NM_001136223,NR_146434,NM_001136225,NR_146432,NM_001350069,NR_146433,NM_018254 RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.9815 1 211444651 [T/C] NM_001350070,NM_001136224,NM_001136223,NR_146434,NM_001136225,NR_146432,NM_001350069,NR_146433,NM_018254 RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3 EXON Silent,Synonymous_L101L,Synonymous_L101L,Silent,Synonymous_L101L,Silent,Synonymous_L133L,Silent,Synonymous_L43L rs11580084 1 211447625 [A/G] NM_001350070,NM_001136224,NM_001136223,NR_146434,NM_001136225,NR_146432,NM_001350069,NR_146433,NM_018254 RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm146593 1 211451474 [A/G] NM_001350070,NM_001136224,NM_001136223,NR_146434,NM_001136225,NR_146432,NM_001350069,NR_146433,NM_018254 RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3 EXON Missense_I57V,Missense_I178V,Missense_I178V,Silent,Missense_I178V,Silent,Missense_I210V,Silent,Missense_I120V rs17017360 1 211476489 [T/C] NM_001350070,NM_001136224,NM_001136223,NR_146434,NM_001136225,NR_146432,NM_001350069,NR_146433,NM_018254 RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm146609 1 211486792 [A/G] NM_001350070,NM_001136224,NM_001136223,NR_146432,NM_001350069,NR_146433,NM_018254 RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3 EXON Synonymous_T327T,Missense_T368A,Synonymous_T448T,Silent,Synonymous_T480T,Silent,Synonymous_T390T exm146618 1 211486997 [A/G] NM_001350070,NM_001136224,NM_001136223,NR_146432,NM_001350069,NR_146433,NM_018254 RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3,RCOR3 EXON Missense_A396T,Missense_C436Y,Missense_A517T,Silent,Missense_A549T,Silent,Missense_A459T rs6540679 1 211491152 [A/G] rs17017394 1 211491284 [A/G] rs10494935 1 211512775 [T/C] NM_004619,NM_001319207,NM_001033910 TRAF5,TRAF5,TRAF5 Silent,Silent,Silent exm146624 1 211526627 [T/C] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Missense_R16C,Missense_R16C,Missense_R16C,Missense_R16C variant.9816 1 211526630 [T/C] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Nonsense_Q17X,Nonsense_Q17X,Nonsense_Q17X,Nonsense_Q17X exm146626 1 211526639 [A/G] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Missense_G20S,Missense_G20S,Missense_G20S,Missense_G20S variant.9817 1 211526710 [A/C] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Nonsense_Y43X,Nonsense_Y43X,Nonsense_Y43X,Nonsense_Y43X exm146630 1 211526711 [A/G] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Missense_K44E,Missense_K44E,Missense_K44E,Missense_K44E exm146638 1 211529767 [A/G] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Missense_N112S,Missense_N112S,Missense_N112S,Missense_N112S rs2292483 1 211533027 [A/G] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 Silent,Silent,Silent,Silent exm146643 1 211533309 [A/G] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Missense_R145Q,Missense_R156Q,Missense_R145Q,Missense_R145Q exm2232433 1 211534056 [A/C] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Missense_N186H,Missense_N197H,Missense_N186H,Missense_N186H rs2271458 1 211534056 [A/C] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Missense_N186H,Missense_N197H,Missense_N186H,Missense_N186H exm146648 1 211534099 [T/C] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Missense_A200V,Missense_A211V,Missense_A200V,Missense_A200V exm146653 1 211538773 [A/G] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Missense_R251H,Missense_R262H,Missense_R251H,Missense_R251H variant.9818 1 211538796 [T/C] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Nonsense_Q259X,Nonsense_Q270X,Nonsense_Q259X,Nonsense_Q259X variant.9819 1 211538808 [T/C] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Nonsense_Q263X,Nonsense_Q274X,Nonsense_Q263X,Nonsense_Q263X exm146668 1 211544785 [G/C] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Missense_L358V,Missense_L369V,Missense_L358V,Missense_L358V exm146673 1 211545524 [A/C] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Missense_A385E,Missense_A396E,Missense_A385E,Missense_A385E 1KG_1_211545666 1 211545666 [I/D] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON exm146678 1 211545673 [A/C] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Missense_T435P,Missense_T446P,Missense_T435P,Missense_T435P exm146680 1 211545680 [A/G] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Missense_R437H,Missense_R448H,Missense_R437H,Missense_R437H exm146681 1 211545690 [A/C] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Nonsense_Y440X,Nonsense_Y451X,Nonsense_Y440X,Nonsense_Y440X exm146688 1 211545955 [A/G] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Missense_V529I,Missense_V540I,Missense_V529I,Missense_V529I exm146690 1 211545976 [A/G] NM_004619,NM_001319207,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5,TRAF5 EXON Missense_A536T,Missense_A547T,Missense_A536T,Missense_A536T rs17017451 1 211557908 [T/C] NR_026761 LINC00467 Silent rs784378 1 211566366 [A/G] NR_026761 LINC00467 Silent rs784379 1 211566760 [A/G] NR_026761 LINC00467 Silent rs11580728 1 211614280 [T/C] rs1663517 1 211621170 [T/C] rs1361031 1 211645082 [T/C] exm146697 1 211652382 [A/T] NM_001164688,NM_183059 RD3,RD3 EXON Missense_D195V,Missense_D195V exm146702 1 211652466 [T/C] NM_001164688,NM_183059 RD3,RD3 EXON Missense_R167K,Missense_R167K exm146703 1 211652472 [T/G] NM_001164688,NM_183059 RD3,RD3 EXON Missense_D165A,Missense_D165A exm146716 1 211654499 [T/C] NM_001164688,NM_183059 RD3,RD3 EXON Missense_K87E,Missense_K87E exm146720 1 211654556 [A/G] NM_001164688,NM_183059 RD3,RD3 EXON Missense_R68W,Missense_R68W exm2250619 1 211654590 [A/G] NM_001164688,NM_183059 RD3,RD3 EXON Synonymous_T56T,Synonymous_T56T exm146724 1 211654590 [A/G] NM_001164688,NM_183059 RD3,RD3 EXON Synonymous_T56T,Synonymous_T56T exm146726 1 211654619 [A/G] NM_001164688,NM_183059 RD3,RD3 EXON Missense_R47C,Missense_R47C exm146729 1 211654657 [A/G] NM_001164688,NM_183059 RD3,RD3 EXON Missense_T34M,Missense_T34M exm146731 1 211654675 [A/G] NM_001164688,NM_183059 RD3,RD3 EXON Missense_T28M,Missense_T28M exm146740 1 211654742 [A/G] NM_001164688,NM_183059 RD3,RD3 EXON Missense_W6R,Missense_W6R rs11119751 1 211663221 [T/C] NM_001164688,NM_183059 RD3,RD3 Silent,Silent rs10863899 1 211666218 [A/G] NM_001164688,NM_183059 RD3,RD3 EXON Silent,Silent rs11587632 1 211668437 [T/C] rs1578838 1 211671118 [T/G] exm2268825 1 211675279 [T/C] rs12403299 1 211676378 [T/C] rs11119754 1 211678947 [T/C] rs753646 1 211686121 [A/G] rs10863911 1 211686860 [T/C] rs4951758 1 211690631 [T/C] rs2120671 1 211690993 [A/C] rs4951761 1 211694012 [A/G] rs11119758 1 211694198 [A/G] exm-rs1614866 1 211700658 [A/G] rs7525277 1 211705317 [A/G] rs6679498 1 211712690 [T/C] rs2165993 1 211730036 [A/G] rs7530862 1 211736470 [T/C] exm146746 1 211749038 [T/C] NM_021194 SLC30A1 EXON Missense_V406I rs17017779 1 211760483 [T/C] rs6702177 1 211774350 [T/C] rs9430074 1 211776105 [T/C] rs7546959 1 211785039 [A/G] rs12736496 1 211798430 [T/C] rs6660850 1 211806784 [T/C] rs10779564 1 211809449 [A/G] exm-rs10158309 1 211813550 [T/C] NR_131925 LINC01693 Silent rs1373293 1 211815287 [T/C] NR_131925 LINC01693 Silent rs7516189 1 211828134 [A/G] rs2028706 1 211831380 [A/C] rs894852 1 211835786 [A/G] NM_001204182 NEK2 Silent exm146778 1 211836799 [A/G] NM_001204182,NM_002497 NEK2,NEK2 EXON Silent,Missense_L436P rs10158205 1 211837911 [T/C] NM_001204182,NM_002497 NEK2,NEK2 Silent,Silent exm146787 1 211840498 [T/C] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 EXON Missense_N354S,Missense_N354S,Missense_N354S exm146790 1 211842455 [A/G] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 EXON Nonsense_Q329X,Nonsense_Q329X,Nonsense_Q329X newrs146817802 1 211842488 [A/G] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 EXON Nonsense_R318X,Nonsense_R318X,Nonsense_R318X exm146792 1 211842494 [A/G] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 EXON Nonsense_R316X,Nonsense_R316X,Nonsense_R316X indel.9825 1 211842647 [I/D] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 EXON rs697004 1 211842808 [A/C] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 Silent,Silent,Silent exm146808 1 211844613 [T/C] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 EXON Missense_R190H,Missense_R190H,Missense_R190H exm146809 1 211844616 [T/C] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 EXON Missense_N189S,Missense_N189S,Missense_N189S rs11119790 1 211845859 [A/G] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 Silent,Silent,Silent exm146816 1 211846971 [T/C] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 EXON Missense_V137I,Missense_V137I,Missense_V137I var_1_211847857 1 211847857 [T/C] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 Silent,Silent,Silent exm146829 1 211847857 [T/C] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 Silent,Silent,Silent rs10494940 1 211856601 [T/C] NR_148994 LOC91548 Silent rs6661565 1 211859925 [A/G] NR_148994 LOC91548 EXON Silent rs12096414 1 211877481 [A/G] rs12569332 1 211886246 [T/C] rs7533652 1 211887918 [T/C] rs7512315 1 211893655 [A/G] rs701911 1 211905584 [T/C] rs3862952 1 211914587 [A/G] rs10494942 1 211916142 [T/C] rs12566620 1 211920427 [T/C] NM_001320808,NM_014873 LPGAT1,LPGAT1 EXON Silent,Silent rs10465691 1 211920624 [A/G] NM_001320808,NM_014873 LPGAT1,LPGAT1 EXON Silent,Silent exm146851 1 211952321 [T/C] NM_001320808,NM_014873 LPGAT1,LPGAT1 EXON Missense_I265V,Missense_I265V exm146854 1 211956700 [T/C] NM_001320808,NM_014873 LPGAT1,LPGAT1 EXON Missense_K200E,Missense_K200E rs12038038 1 211994671 [T/C] NM_001320808,NM_014873 LPGAT1,LPGAT1 Silent,Silent exm146863 1 212002523 [T/C] NM_001320808,NM_014873 LPGAT1,LPGAT1 EXON Missense_Y39C,Missense_Y39C exm146867 1 212002613 [A/G] NM_001320808,NM_014873 LPGAT1,LPGAT1 EXON Missense_P9L,Missense_P9L kgp22734082 1 212005392 [T/C] NR_135818,NR_135819,NR_135820 LOC102723727,LOC102723727,LOC102723727 Silent,Silent,Silent kgp12224477 1 212007681 [T/C] NR_135818,NR_135819,NR_135820 LOC102723727,LOC102723727,LOC102723727 Silent,Silent,Silent rs28688444 1 212042686 [T/C] rs2970582 1 212080831 [T/C] rs17018191 1 212090728 [A/G] rs2788124 1 212092918 [T/C] rs2788140 1 212104854 [T/C] indel.9830 1 212115252 [I/D] NM_001199812,NM_015434,NM_001199811,NR_037667,NM_001199809 INTS7,INTS7,INTS7,INTS7,INTS7 EXON exm146872 1 212115314 [T/C] NM_001199812,NM_015434,NM_001199811,NR_037667,NM_001199809 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Missense_N894S,Missense_N914S,Missense_N900S,Silent,Missense_N865S exm146886 1 212120028 [T/C] NM_001199812,NM_015434,NM_001199811,NR_037667,NM_001199809 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Silent,Missense_N779S,Missense_N765S,Silent,Missense_N730S rs7544941 1 212125154 [T/C] NM_001199812,NM_015434,NM_001199811,NR_037667,NM_001199809 INTS7,INTS7,INTS7,INTS7,INTS7 Silent,Silent,Silent,Silent,Silent variant.9831 1 212125909 [A/G] NM_001199812,NM_015434,NM_001199811,NR_037667,NM_001199809 INTS7,INTS7,INTS7,INTS7,INTS7 Silent,Silent,Silent,Silent,Silent variant.9832 1 212125951 [A/G] NM_001199812,NM_015434,NM_001199811,NR_037667,NM_001199809 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Missense_V759A,Missense_V759A,Silent,Silent,Missense_V710A exm146897 1 212141905 [T/C] NM_001199812,NM_015434,NM_001199811,NR_037667,NM_001199809 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Missense_A654T,Missense_A654T,Missense_A654T,Silent,Missense_A605T indel.9834 1 212148523 [D/I] NM_001199812,NM_015434,NM_001199811,NR_037667,NM_001199809 INTS7,INTS7,INTS7,INTS7,INTS7 EXON exm146904 1 212149967 [T/C] NM_001199812,NM_015434,NM_001199811,NR_037667,NM_001199809 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Missense_N522S,Missense_N522S,Missense_N522S,Silent,Missense_N473S rs3010004 1 212152173 [T/C] NM_001199812,NM_015434,NM_001199811,NR_037667,NM_001199809 INTS7,INTS7,INTS7,INTS7,INTS7 Silent,Silent,Silent,Silent,Silent exm146913 1 212154442 [A/G] NM_001199812,NM_015434,NM_001199811,NR_037667,NM_001199809 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Missense_T408I,Missense_T408I,Missense_T408I,Silent,Missense_T359I rs17018311 1 212155008 [T/C] NM_001199812,NM_015434,NM_001199811,NR_037667,NM_001199809 INTS7,INTS7,INTS7,INTS7,INTS7 Silent,Silent,Silent,Silent,Silent exm146920 1 212156041 [A/G] NM_001199812,NM_015434,NM_001199811,NR_037667,NM_001199809 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Missense_I370T,Missense_I370T,Missense_I370T,Silent,Missense_I321T exm146927 1 212161258 [T/C] NM_001199812,NM_015434,NM_001199811,NR_037667,NM_001199809 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Missense_A323T,Missense_A323T,Missense_A323T,Silent,Missense_A274T exm146929 1 212161344 [A/G] NM_001199812,NM_015434,NM_001199811,NR_037667,NM_001199809 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Missense_A294V,Missense_A294V,Missense_A294V,Silent,Missense_A245V exm146937 1 212180608 [A/G] NM_001199812,NM_015434,NM_001199811,NR_037667,NM_001199809 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Missense_V247A,Missense_V247A,Missense_V247A,Silent,Missense_V198A rs2993531 1 212190116 [A/C] NM_001199812,NM_015434,NM_001199811,NR_037667,NM_001199809 INTS7,INTS7,INTS7,INTS7,INTS7 Silent,Silent,Silent,Silent,Silent exm2250642 1 212190116 [A/C] NM_001199812,NM_015434,NM_001199811,NR_037667,NM_001199809 INTS7,INTS7,INTS7,INTS7,INTS7 Silent,Silent,Silent,Silent,Silent exm146963 1 212209243 [A/G] NM_001286229,NM_016448,NM_001286230 DTL,DTL,DTL EXON Silent,Missense_N4S,Missense_N4S variant.9836 1 212216339 [A/G] NM_001286229,NM_016448,NM_001286230 DTL,DTL,DTL EXON Silent,Nonsense_W19X,Silent exm-rs10863936 1 212237798 [A/G] NM_001286229,NM_016448,NM_001286230 DTL,DTL,DTL Silent,Silent,Silent rs17018414 1 212239845 [T/G] NM_001286229,NM_016448,NM_001286230 DTL,DTL,DTL Silent,Silent,Silent exm146995 1 212240193 [A/G] NM_001286229,NM_016448,NM_001286230 DTL,DTL,DTL EXON Silent,Missense_E227K,Missense_E185K exm147007 1 212245455 [A/G] NM_001286229,NM_016448,NM_001286230 DTL,DTL,DTL EXON Missense_N41S,Missense_N312S,Missense_N270S exm2250648 1 212245477 [T/C] NM_001286229,NM_016448,NM_001286230 DTL,DTL,DTL EXON Synonymous_F48F,Synonymous_F319F,Synonymous_F277F rs6657728 1 212255695 [T/C] NM_001286229,NM_016448,NM_001286230 DTL,DTL,DTL Silent,Silent,Silent exm1756859 1 212273593 [A/G] NM_001286229,NM_016448,NM_001286230 DTL,DTL,DTL Silent,Silent,Silent exm147017 1 212273603 [T/C] NM_001286229,NM_016448,NM_001286230 DTL,DTL,DTL EXON Missense_T153M,Missense_T424M,Missense_T382M variant.9837 1 212273611 [T/C] NM_001286229,NM_016448,NM_001286230 DTL,DTL,DTL EXON Nonsense_Q156X,Nonsense_Q427X,Nonsense_Q385X exm147024 1 212273797 [A/G] NM_001286229,NM_016448,NM_001286230 DTL,DTL,DTL EXON Missense_V218I,Missense_V489I,Missense_V447I indel.9838 1 212273979 [D/I] NM_001286229,NM_016448,NM_001286230 DTL,DTL,DTL EXON exm147046 1 212274413 [A/C] NM_001286229,NM_016448,NM_001286230 DTL,DTL,DTL EXON Missense_K423T,Missense_K694T,Missense_K652T exm147047 1 212274415 [T/G] NM_001286229,NM_016448,NM_001286230 DTL,DTL,DTL EXON Missense_L424V,Missense_L695V,Missense_L653V exm147049 1 212276212 [A/G] NM_001286229,NM_016448,NM_001286230 DTL,DTL,DTL EXON Missense_K437R,Missense_K708R,Missense_K666R rs1387815 1 212277107 [T/G] NM_001286229,NM_016448,NM_001286230 DTL,DTL,DTL EXON Silent,Silent,Silent rs7545292 1 212279058 [T/G] rs6690208 1 212295571 [T/C] rs11809969 1 212301643 [A/G] rs4951438 1 212324488 [T/C] rs7540143 1 212324535 [T/C] rs11119860 1 212332294 [T/C] rs12139237 1 212333126 [T/C] rs11119865 1 212344323 [T/C] rs903124 1 212348372 [T/G] rs10863949 1 212350402 [T/C] rs6703980 1 212350975 [A/G] rs4325202 1 212351181 [T/C] rs12039815 1 212355971 [T/C] rs11119874 1 212357017 [A/C] rs11119880 1 212378485 [A/G] rs11119884 1 212400146 [T/C] NR_125982,NR_125983,NR_125984 LOC101929541,LOC101929541,LOC101929541 Silent,Silent,Silent rs4951583 1 212416078 [T/C] NR_125984 LOC101929541 Silent rs10863957 1 212418044 [T/C] NR_125984 LOC101929541 Silent rs351405 1 212431398 [A/C] NR_125984 LOC101929541 Silent rs7527863 1 212431431 [A/G] NR_125984 LOC101929541 Silent rs7531219 1 212434815 [A/G] NR_125984 LOC101929541 Silent rs351413 1 212457414 [A/G] NR_125984 LOC101929541 Silent rs1342151 1 212490304 [A/G] NM_006243,NM_001199756 PPP2R5A,PPP2R5A Silent,Silent exm147062 1 212502477 [A/G] NM_006243,NM_001199756 PPP2R5A,PPP2R5A EXON Missense_D61G,Missense_N4S exm1758395 1 212506912 [T/C] NM_006243,NM_001199756 PPP2R5A,PPP2R5A EXON Missense_T151M,Missense_T94M rs12736502 1 212516875 [T/C] NM_006243,NM_001199756 PPP2R5A,PPP2R5A Silent,Silent rs792442 1 212526288 [T/C] NM_006243,NM_001199756,NR_004389 PPP2R5A,PPP2R5A,SNORA16B EXON Silent,Silent,Silent variant.9839 1 212530626 [T/C] NM_006243,NM_001199756 PPP2R5A,PPP2R5A EXON Missense_P409L,Missense_P352L rs14123 1 212534448 [T/C] NM_006243,NM_001199756 PPP2R5A,PPP2R5A EXON Silent,Silent rs3767861 1 212537553 [A/G] indel.9841 1 212548596 [I/D] NM_018252,NM_001198862 TMEM206,TMEM206 EXON var_1_212553243 1 212553244 [D/I] NM_018252,NM_001198862 TMEM206,TMEM206 EXON exm147119 1 212553310 [C/G] NM_018252,NM_001198862 TMEM206,TMEM206 EXON Missense_L189V,Missense_L250V exm147134 1 212558731 [T/C] NM_018252,NM_001198862 TMEM206,TMEM206 EXON Missense_S127N,Missense_S188N exm147138 1 212560248 [A/G] NM_018252,NM_001198862 TMEM206,TMEM206 EXON Missense_R110C,Missense_R171C rs1086892 1 212562737 [T/G] NM_018252,NM_001198862 TMEM206,TMEM206 Silent,Silent rs6676208 1 212562975 [A/C] NM_018252,NM_001198862 TMEM206,TMEM206 Silent,Silent rs1539206 1 212580922 [A/G] NM_018252,NM_001198862 TMEM206,TMEM206 Silent,Silent exm147155 1 212587320 [T/C] NM_018252,NM_001198862 TMEM206,TMEM206 EXON Silent,Missense_N47D rs10863965 1 212601099 [T/C] rs10863966 1 212603619 [T/G] rs583058 1 212610755 [T/C] NR_026598,NM_013349 NENF,NENF Silent,Silent rs12567517 1 212617423 [T/G] NR_026598,NM_013349 NENF,NENF Silent,Silent exm147165 1 212617692 [T/C] NR_026598,NM_013349 NENF,NENF EXON Silent,Nonsense_R84X exm2273742 1 212617723 [A/G] NR_026598,NM_013349 NENF,NENF EXON Silent,Missense_K94R exm147172 1 212617740 [A/G] NR_026598,NM_013349 NENF,NENF EXON Silent,Missense_V100I exm147177 1 212619173 [T/C] NR_026598,NM_013349 NENF,NENF EXON Silent,Missense_T115M exm147180 1 212619182 [T/C] NR_026598,NM_013349 NENF,NENF EXON Silent,Missense_T118M exm147185 1 212619247 [A/G] NR_026598,NM_013349 NENF,NENF EXON Silent,Missense_V140I exm2250675 1 212619339 [T/C] NR_026598,NM_013349 NENF,NENF EXON Silent,Synonymous_D170D rs12746015 1 212636824 [T/C] rs734976 1 212640982 [T/G] exm2265079 1 212651499 [A/G] rs11119947 1 212656471 [T/C] rs7544479 1 212660681 [A/G] rs6540742 1 212670865 [A/G] rs626178 1 212677319 [T/C] rs653006 1 212678727 [T/G] rs878947 1 212683565 [A/G] rs562683 1 212683888 [T/C] rs10863978 1 212693423 [T/C] rs1021378 1 212700618 [A/G] rs650229 1 212711012 [T/C] rs1512847 1 212712720 [T/C] rs11802726 1 212713653 [A/C] rs599028 1 212714455 [T/C] rs616408 1 212716033 [A/G] rs11119967 1 212716579 [A/G] rs7522039 1 212727262 [T/C] NR_125985 LINC01740 Silent rs2884515 1 212730334 [T/C] rs11119972 1 212733925 [T/C] rs2137424 1 212747117 [T/C] NM_001030287 ATF3 Silent rs3125289 1 212748147 [T/C] NM_001030287 ATF3 Silent rs6674072 1 212759493 [A/C] NM_001030287 ATF3 Silent rs11119982 1 212764844 [T/C] NM_001030287 ATF3 Silent rs6682064 1 212767840 [T/C] NM_001030287 ATF3 Silent rs1567710 1 212768428 [T/C] NM_001030287 ATF3 Silent rs4951625 1 212774757 [A/G] NM_001030287 ATF3 Silent rs4406706 1 212780471 [A/G] NM_001030287 ATF3 Silent exm147192 1 212788398 [T/C] NM_001030287,NM_001040619,NM_001674,NM_001206488,NM_001206484,NM_001206486 ATF3,ATF3,ATF3,ATF3,ATF3,ATF3 EXON Missense_S12L,Missense_S12L,Missense_S12L,Silent,Silent,Missense_S12L rs10475 1 212793613 [T/C] NM_001030287,NM_001040619,NM_001674,NM_001206488,NM_001206484,NM_001206486 ATF3,ATF3,ATF3,ATF3,ATF3,ATF3 EXON Silent,Silent,Silent,Silent,Silent,Silent exm147225 1 212798251 [T/C] NM_153606 FAM71A EXON Missense_T11M exm147226 1 212798260 [A/G] NM_153606 FAM71A EXON Missense_S14N variant.9851 1 212798325 [T/G] NM_153606 FAM71A EXON Nonsense_E36X exm1758800 1 212798336 [A/G] NM_153606 FAM71A EXON Missense_I39M exm147238 1 212798487 [T/C] NM_153606 FAM71A EXON Nonsense_R90X indel.9853 1 212798539 [I/D] NM_153606 FAM71A EXON exm147244 1 212798554 [A/C] NM_153606 FAM71A EXON Missense_A112E exm147249 1 212798638 [A/G] NM_153606 FAM71A EXON Missense_R140H exm147251 1 212798665 [A/G] NM_153606 FAM71A EXON Missense_C149Y exm147254 1 212798697 [C/G] NM_153606 FAM71A EXON Missense_R160G exm147255 1 212798698 [A/G] NM_153606 FAM71A EXON Missense_R160Q exm147260 1 212798808 [A/G] NM_153606 FAM71A EXON Missense_V197M exm1758808 1 212798920 [T/C] NM_153606 FAM71A EXON Missense_T234I exm147269 1 212798977 [A/G] NM_153606 FAM71A EXON Missense_N253S exm147285 1 212799139 [A/G] NM_153606 FAM71A EXON Missense_Q307R exm147287 1 212799163 [A/C] NM_153606 FAM71A EXON Missense_A315E exm147288 1 212799171 [A/G] NM_153606 FAM71A EXON Missense_I318V exm147302 1 212799478 [T/G] NM_153606 FAM71A EXON Missense_C420F exm147309 1 212799541 [A/G] NM_153606 FAM71A EXON Missense_R441K exm147318 1 212799654 [A/G] NM_153606 FAM71A EXON Missense_G479S exm147321 1 212799664 [T/G] NM_153606 FAM71A EXON Missense_G482V exm2232444 1 212799684 [T/C] NM_153606 FAM71A EXON Missense_S489P exm147329 1 212799870 [A/G] NM_153606 FAM71A EXON Missense_N551D rs3122713 1 212799870 [A/G] NM_153606 FAM71A EXON Missense_N551D exm147332 1 212799882 [T/A] NM_153606 FAM71A EXON Nonsense_K555X indel.9860 1 212799963 [I/D] NM_153606 FAM71A EXON rs3923950 1 212811875 [T/C] rs3123537 1 212811947 [A/C] rs2492788 1 212844187 [T/C] rs2492789 1 212845034 [A/G] rs17019556 1 212846165 [T/C] rs2501847 1 212846338 [T/C] rs2246053 1 212863052 [T/C] NM_018664 BATF3 Silent rs2221593 1 212873431 [T/C] rs7555918 1 212885805 [A/G] rs6681171 1 212892113 [T/G] indel.9862 1 212900502 [D/I] NM_001297736,NM_001042549,NM_001297739,NM_015471,NM_001297737 NSL1,NSL1,NSL1,NSL1,NSL1 EXON exm147355 1 212911779 [A/G] NM_001297736,NM_001042549,NM_001297739,NM_015471,NM_001297737 NSL1,NSL1,NSL1,NSL1,NSL1 EXON Missense_R232W,Silent,Silent,Missense_R273W,Silent newrs150149847 1 212911789 [T/C] NM_001297736,NM_001042549,NM_001297739,NM_015471,NM_001297737 NSL1,NSL1,NSL1,NSL1,NSL1 EXON Nonsense_W228X,Silent,Silent,Nonsense_W269X,Silent exm147357 1 212911802 [A/G] NM_001297736,NM_001042549,NM_001297739,NM_015471,NM_001297737 NSL1,NSL1,NSL1,NSL1,NSL1 EXON Missense_P224L,Silent,Silent,Missense_P265L,Silent exm147358 1 212911836 [T/C] NM_001297736,NM_001042549,NM_001297739,NM_015471,NM_001297737 NSL1,NSL1,NSL1,NSL1,NSL1 EXON Missense_M213V,Silent,Silent,Missense_M254V,Silent rs15702 1 212911836 [T/C] NM_001297736,NM_001042549,NM_001297739,NM_015471,NM_001297737 NSL1,NSL1,NSL1,NSL1,NSL1 EXON Missense_M213V,Silent,Silent,Missense_M254V,Silent 1KG_1_212911853 1 212911853 [I/D] NM_001297736,NM_001042549,NM_001297739,NM_015471,NM_001297737 NSL1,NSL1,NSL1,NSL1,NSL1 EXON exm147361 1 212912883 [T/G] NM_001297736,NM_001042549,NM_001297739,NM_015471,NM_001297737 NSL1,NSL1,NSL1,NSL1,NSL1 EXON Silent,Silent,Silent,Missense_A187D,Silent exm147366 1 212912926 [A/G] NM_001297736,NM_001042549,NM_001297739,NM_015471,NM_001297737 NSL1,NSL1,NSL1,NSL1,NSL1 EXON Silent,Missense_F201S,Silent,Synonymous_L173L,Silent rs1032965 1 212928157 [T/C] NM_001297736,NM_001042549,NM_001297739,NM_015471,NM_001297737 NSL1,NSL1,NSL1,NSL1,NSL1 Silent,Silent,Silent,Silent,Silent rs4951638 1 212931215 [T/C] NM_001297736,NM_001042549,NM_001297739,NM_015471,NM_001297737 NSL1,NSL1,NSL1,NSL1,NSL1 Silent,Silent,Silent,Silent,Silent rs11808846 1 212943581 [A/G] NM_001297736,NM_001042549,NM_001297739,NM_015471,NM_001297737 NSL1,NSL1,NSL1,NSL1,NSL1 Silent,Silent,Silent,Silent,Silent rs10863997 1 212947520 [A/G] NM_001297736,NM_001042549,NM_001297739,NM_015471,NM_001297737 NSL1,NSL1,NSL1,NSL1,NSL1 Silent,Silent,Silent,Silent,Silent exm147375 1 212957827 [T/C] NM_001297736,NM_001042549,NM_001297739,NM_015471,NM_001297737 NSL1,NSL1,NSL1,NSL1,NSL1 EXON Missense_I108V,Missense_I108V,Missense_I108V,Missense_I108V,Missense_I108V exm1758972 1 212964933 [T/C] NM_001297736,NM_001042549,NM_001297739,NM_015471,NM_001297737 NSL1,NSL1,NSL1,NSL1,NSL1 EXON Missense_Q58R,Missense_Q58R,Missense_Q58R,Missense_Q58R,Missense_Q58R exm147390 1 212965095 [A/G] NM_001297736,NM_001042549,NM_001297739,NM_015471,NM_001297737 NSL1,NSL1,NSL1,NSL1,NSL1 EXON Missense_S4F,Missense_S4F,Missense_S4F,Missense_S4F,Missense_S4F exm147399 1 212965292 [A/C] NM_001146169,NM_001363589,NM_001146171,NM_001363590,NM_001042553,NM_001146170,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_D10A,Missense_D10A,Missense_D10A,Missense_D10A,Missense_D10A,Missense_D10A,Missense_D10A exm147411 1 212969889 [A/G] NM_001146169,NM_001363589,NM_001146171,NM_001363590,NM_001042553,NM_001146170,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_E44K,Missense_E44K,Missense_E44K,Missense_E44K,Missense_E44K,Missense_E44K,Missense_E44K exm147423 1 212970533 [A/C] NM_001146169,NM_001363589,NM_001146171,NM_001363590,NM_001042553,NM_001146170,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_L85I,Missense_L85I,Missense_L85I,Missense_L85I,Missense_L85I,Missense_L85I,Missense_L85I rs2940085 1 212973330 [T/C] NM_001146169,NM_001363589,NM_001146171,NM_001363590,NM_001042553,NM_001146170,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.9866 1 212976041 [A/G] NM_001146169,NM_001363589,NM_001146171,NM_001363590,NM_001042553,NM_001146170,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm147425 1 212976085 [T/C] NM_001146169,NM_001363589,NM_001146171,NM_001363590,NM_001042553,NM_001146170,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_R101W,Missense_R101W,Missense_R101W,Missense_R101W,Missense_R101W,Silent,Missense_R101W variant.9867 1 212977716 [T/C] NM_001146169,NM_001363589,NM_001146171,NM_001363590,NM_001042553,NM_001146170,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Nonsense_Q126X,Nonsense_Q126X,Nonsense_Q126X,Nonsense_Q126X,Nonsense_Q126X,Nonsense_Q105X,Nonsense_Q126X exm147429 1 212977942 [A/G] NM_001146169,NM_001363589,NM_001146171,NM_001363590,NM_001042553,NM_001146170,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_V146M,Missense_V146M,Missense_V146M,Missense_V146M,Missense_V146M,Missense_V125M,Missense_V146M exm147430 1 212977951 [T/C] NM_001146169,NM_001363589,NM_001146171,NM_001363590,NM_001042553,NM_001146170,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_R149C,Missense_R149C,Missense_R149C,Missense_R149C,Missense_R149C,Missense_R128C,Missense_R149C exm147432 1 212977976 [A/G] NM_001146169,NM_001363589,NM_001146171,NM_001363590,NM_001042553,NM_001146170,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_N157S,Missense_N157S,Missense_N157S,Missense_N157S,Missense_N157S,Missense_N136S,Missense_N157S exm147436 1 212981105 [T/C] NM_001146169,NM_001363589,NM_001146171,NM_001363590,NM_001042553,NM_001146170,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_F172S,Silent,Missense_F172S,Silent,Missense_F172S,Missense_F151S,Missense_F172S exm147438 1 212981188 [T/C] NM_001146169,NM_001363589,NM_001146171,NM_001363590,NM_001042553,NM_001146170,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Nonsense_Q200X,Silent,Nonsense_Q200X,Silent,Nonsense_Q200X,Nonsense_Q179X,Nonsense_Q200X newrs139958360 1 212981191 [A/G] NM_001146169,NM_001363589,NM_001146171,NM_001363590,NM_001042553,NM_001146170,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7515115 1 212986554 [T/C] NM_001146169,NM_001363589,NM_001146171,NM_001363590,NM_001042553,NM_001146170,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.9870 1 212988371 [A/G] NM_001146169,NM_001363589,NM_001146171,NM_001363590,NM_001042553,NM_001146170,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Silent,Silent,Nonsense_W240X,Silent,Nonsense_W232X,Nonsense_W212X,Nonsense_W233X exm147445 1 212988383 [T/G] NM_001146169,NM_001363589,NM_001146171,NM_001363590,NM_001042553,NM_001146170,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Silent,Silent,Missense_I244S,Silent,Missense_I236S,Missense_I216S,Missense_I237S var_1_212988478 1 212988478 [T/C] NM_001146169,NM_001363589,NM_001146171,NM_001363590,NM_001042553,NM_001146170,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Silent,Silent,Nonsense_R276X,Silent,Nonsense_R268X,Nonsense_R248X,Nonsense_R269X exm147448 1 212988479 [A/G] NM_001146169,NM_001363589,NM_001146171,NM_001363590,NM_001042553,NM_001146170,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Silent,Silent,Missense_R276Q,Silent,Missense_R268Q,Missense_R248Q,Missense_R269Q rs6694190 1 213005012 [A/G] NM_001024601 SPATA45 Silent rs6700410 1 213006397 [A/G] NM_001024601 SPATA45 Silent exm147453 1 213009337 [A/G] NM_001024601 SPATA45 EXON Missense_P52L exm147454 1 213009383 [A/G] NM_001024601 SPATA45 EXON Nonsense_R37X newrs80161538 1 213009383 [A/G] NM_001024601 SPATA45 EXON Nonsense_R37X exm147455 1 213009386 [T/C] NM_001024601 SPATA45 EXON Missense_E36K exm147458 1 213009469 [A/G] NM_001024601 SPATA45 EXON Missense_I8T indel.9874 1 213009477 [D/I] NM_001024601 SPATA45 EXON rs7524203 1 213011812 [C/G] NM_001024601 SPATA45 Silent rs10864007 1 213020221 [T/C] NM_001024601 SPATA45 Silent rs1047881 1 213031158 [T/C] NR_027286,NR_027285 FLVCR1-DT,FLVCR1-DT EXON Silent,Silent exm147477 1 213032371 [C/G] NM_014053 FLVCR1 EXON Missense_G193R exm147480 1 213032389 [T/C] NM_014053 FLVCR1 EXON Missense_L199F rs963327 1 213037624 [A/C] NM_014053 FLVCR1 Silent rs2792561 1 213038375 [A/G] NM_014053 FLVCR1 Silent exm147489 1 213046073 [A/G] NM_014053 FLVCR1 EXON Missense_D313N exm147490 1 213046088 [A/G] NM_014053 FLVCR1 EXON Missense_E318K exm147491 1 213046098 [A/G] NM_014053 FLVCR1 EXON Missense_Y321C rs1890932 1 213046236 [A/G] NM_014053 FLVCR1 Silent rs2644546 1 213052656 [T/G] NM_014053 FLVCR1 Silent var_1_213056785 1 213056785 [A/G] NM_014053 FLVCR1 Silent exm147499 1 213058700 [T/G] NM_014053 FLVCR1 EXON Missense_I386M variant.9879 1 213061934 [T/C] NM_014053 FLVCR1 EXON Nonsense_Q471X indel.9881 1 213068353 [D/I] NM_014053 FLVCR1 EXON exm147526 1 213068583 [A/G] NM_014053 FLVCR1 EXON Missense_Q540R exm147528 1 213068595 [T/C] NM_014053 FLVCR1 EXON Missense_T544M indel.9883 1 213068606 [I/D] NM_014053 FLVCR1 EXON exm147530 1 213068621 [T/G] NM_014053 FLVCR1 EXON Missense_S553A rs6682947 1 213069783 [A/G] NM_014053 FLVCR1 EXON Silent rs1284852 1 213073013 [T/C] exm2268827 1 213073013 [T/C] rs1284851 1 213073366 [A/G] rs4951651 1 213080601 [T/C] rs12042181 1 213088494 [T/C] rs12140722 1 213091573 [A/C] rs11120067 1 213094557 [A/G] rs970081 1 213101844 [A/G] rs3124665 1 213109096 [A/G] rs3104212 1 213111959 [T/C] exm1759265 1 213125026 [A/C] NM_001301056,NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2,VASH2 EXON Missense_L48M,Missense_L48M,Silent,Silent rs2935214 1 213126541 [T/C] NM_001301056,NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2,VASH2 Silent,Silent,Silent,Silent rs6679892 1 213138075 [A/C] NM_001301056,NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2,VASH2 Silent,Silent,Silent,Silent rs10779598 1 213140398 [A/C] NM_001301056,NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2,VASH2 Silent,Silent,Silent,Silent rs11586518 1 213144851 [A/G] NM_001301056,NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2,VASH2 Silent,Silent,Silent,Silent exm147555 1 213145948 [T/C] NM_001301056,NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2,VASH2 EXON Missense_I175T,Missense_I131T,Missense_I71T,Missense_I110T exm147563 1 213146166 [A/C] NM_001301056,NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2,VASH2 EXON Missense_I248L,Missense_I204L,Missense_I144L,Missense_I183L exm147574 1 213146292 [A/C] NM_001301056,NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2,VASH2 EXON Missense_M290L,Missense_M246L,Missense_M186L,Missense_M225L rs7511930 1 213146944 [A/G] NM_001301056,NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2,VASH2 Silent,Silent,Silent,Silent exm147581 1 213147399 [T/C] NM_001301056,NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2,VASH2 EXON Missense_R328W,Missense_R284W,Missense_R224W,Missense_R263W exm147582 1 213147400 [A/G] NM_001301056,NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2,VASH2 EXON Missense_R328Q,Missense_R284Q,Missense_R224Q,Missense_R263Q exm2273348 1 213161939 [A/G] NM_001301056,NM_024749,NM_001136475,NM_001136474 VASH2,VASH2,VASH2,VASH2 EXON Silent,Silent,Silent,Silent exm147593 1 213168459 [C/G] NR_125333,NM_001300758,NM_001300753,NM_001300757,NM_144567,NM_001300755 ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2 EXON Silent,Missense_T351S,Missense_T394S,Missense_T351S,Missense_T520S,Missense_T394S exm147602 1 213170649 [A/T] NR_125333,NM_001300758,NM_001300753,NM_001300757,NM_144567,NM_001300755 ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2 EXON Silent,Missense_N275I,Missense_N318I,Missense_N275I,Missense_N444I,Missense_N318I exm147605 1 213173696 [T/G] NR_125333,NM_001300758,NM_001300753,NM_001300757,NM_144567,NM_001300755 ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2 EXON Silent,Missense_Q262K,Missense_Q305K,Missense_Q262K,Missense_Q431K,Missense_Q305K newrs151193487 1 213174127 [T/C] NR_125333,NM_001300758,NM_001300753,NM_001300757,NM_144567,NM_001300755 ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2 Silent,Silent,Silent,Silent,Silent,Silent rs6692011 1 213174934 [T/G] NR_125333,NM_001300758,NM_001300753,NM_001300757,NM_144567,NM_001300755 ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2 Silent,Silent,Silent,Silent,Silent,Silent exm147618 1 213178473 [T/C] NR_125333,NM_001300758,NM_001300753,NM_001300757,NM_144567,NM_001300755 ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2 EXON Silent,Missense_I177V,Missense_I220V,Missense_I177V,Missense_I346V,Missense_I220V exm147623 1 213178551 [T/C] NR_125333,NM_001300758,NM_001300753,NM_001300757,NM_144567,NM_001300755 ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2 EXON Silent,Missense_I151V,Missense_I194V,Missense_I151V,Missense_I320V,Missense_I194V exm147632 1 213178764 [T/C] NR_125333,NM_001300758,NM_001300753,NM_001300757,NM_144567,NM_001300755 ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2 EXON Silent,Missense_R80G,Missense_R123G,Missense_R80G,Missense_R249G,Missense_R123G exm147643 1 213181619 [T/C] NR_125333,NM_001300758,NM_001300753,NM_001300757,NM_144567,NM_001300755 ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2 EXON Silent,Missense_R23Q,Missense_R66Q,Missense_R23Q,Missense_R192Q,Missense_R66Q exm147644 1 213181620 [A/G] NR_125333,NM_001300758,NM_001300753,NM_001300757,NM_144567,NM_001300755 ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2 EXON Silent,Missense_R23W,Missense_R66W,Missense_R23W,Missense_R192W,Missense_R66W indel.9885 1 213186492 [I/D] NR_125333,NM_001300758,NM_001300753,NM_001300757,NM_144567,NM_001300755 ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2 EXON indel.9886 1 213186567 [I/D] NR_125333,NM_001300758,NM_001300753,NM_001300757,NM_144567,NM_001300755 ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2 EXON indel.9887 1 213186581 [D/I] NR_125333,NM_001300758,NM_001300753,NM_001300757,NM_144567,NM_001300755 ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2 EXON exm2232450 1 213186591 [T/G] NR_125333,NM_001300758,NM_001300753,NM_001300757,NM_144567,NM_001300755 ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2 EXON Silent,Silent,Silent,Silent,Missense_N77H,Silent variant.9889 1 213186633 [A/G] NR_125333,NM_001300758,NM_001300753,NM_001300757,NM_144567,NM_001300755 ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2 EXON Silent,Silent,Silent,Silent,Nonsense_R63X,Silent indel.9890 1 213186658 [D/I] NR_125333,NM_001300758,NM_001300753,NM_001300757,NM_144567,NM_001300755 ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2 EXON exm147660 1 213186688 [C/G] NR_125333,NM_001300758,NM_001300753,NM_001300757,NM_144567,NM_001300755 ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2,ANGEL2 EXON Silent,Silent,Silent,Silent,Missense_R44S,Silent rs7520067 1 213189294 [A/C] kgp6194227 1 213197406 [A/G] rs6689016 1 213241068 [T/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm147673 1 213244366 [A/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P42T,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P42T,Silent,Silent,Silent,Silent,Silent,Missense_P42T,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6697921 1 213248758 [T/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm147677 1 213251113 [T/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R73X,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R73X,Silent,Silent,Silent,Silent,Silent,Nonsense_R73X,Silent,Silent,Silent,Silent,Nonsense_R61X,Silent,Silent,Silent rs6540777 1 213273769 [T/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm147682 1 213277873 [C/G] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A114P,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A114P,Silent,Silent,Silent,Silent,Silent,Missense_A114P,Silent,Silent,Silent,Silent,Missense_A102P,Silent,Silent,Silent rs10465663 1 213301490 [T/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm147694 1 213303007 [G/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L23V,Silent,Silent,Silent,Silent,Missense_L204V,Silent,Silent,Missense_L23V,Silent,Missense_L23V,Missense_L23V,Missense_L204V,Silent,Silent,Silent,Silent,Missense_L23V,Silent,Missense_L23V,Missense_L23V,Silent,Missense_L23V,Missense_L192V,Missense_L23V,Missense_L23V,Silent exm2275544 1 213303165 [A/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E75D,Silent,Silent,Silent,Silent,Missense_E256D,Silent,Silent,Missense_E75D,Silent,Missense_E75D,Missense_E75D,Missense_E256D,Silent,Silent,Silent,Silent,Missense_E75D,Silent,Missense_E75D,Missense_E75D,Silent,Missense_E75D,Missense_E244D,Missense_E75D,Missense_E75D,Silent exm1760074 1 213303165 [A/G] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_E75E,Silent,Silent,Silent,Silent,Synonymous_E256E,Silent,Silent,Synonymous_E75E,Silent,Synonymous_E75E,Synonymous_E75E,Synonymous_E256E,Silent,Silent,Silent,Silent,Synonymous_E75E,Silent,Synonymous_E75E,Synonymous_E75E,Silent,Synonymous_E75E,Synonymous_E244E,Synonymous_E75E,Synonymous_E75E,Silent exm147703 1 213303178 [A/G] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A80T,Silent,Silent,Silent,Silent,Missense_A261T,Silent,Silent,Missense_A80T,Silent,Missense_A80T,Missense_A80T,Missense_A261T,Silent,Silent,Silent,Silent,Missense_A80T,Silent,Missense_A80T,Missense_A80T,Silent,Missense_A80T,Missense_A249T,Missense_A80T,Missense_A80T,Silent rs6657234 1 213311427 [T/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm147707 1 213341218 [T/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R104C,Silent,Silent,Silent,Silent,Missense_R285C,Silent,Silent,Missense_R104C,Silent,Missense_R104C,Missense_R104C,Missense_R285C,Silent,Silent,Silent,Silent,Missense_R104C,Missense_R164C,Missense_R104C,Missense_R104C,Silent,Missense_R104C,Missense_R273C,Missense_R104C,Missense_R104C,Silent exm147712 1 213349747 [T/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Missense_P22L,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P138L,Missense_P22L,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P138L,Silent,Missense_P138L,Silent,Missense_P319L,Silent,Silent,Silent,Silent,Missense_P138L,Missense_P198L,Missense_P138L,Silent,Silent,Silent,Missense_P307L,Missense_P138L,Missense_P138L,Silent rs1391549 1 213371127 [T/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp6287121 1 213375416 [T/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm147726 1 213405593 [T/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Missense_A110V,Silent,Silent,Silent,Missense_A55V,Silent,Missense_A55V,Silent,Missense_A226V,Missense_A110V,Silent,Missense_A55V,Silent,Missense_A376V,Silent,Silent,Missense_A226V,Silent,Missense_A226V,Missense_A195V,Missense_A407V,Silent,Silent,Silent,Silent,Missense_A226V,Missense_A286V,Missense_A226V,Missense_A195V,Missense_A55V,Missense_A195V,Missense_A395V,Missense_A226V,Missense_A226V,Silent exm147729 1 213414090 [T/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Missense_P127L,Silent,Silent,Silent,Missense_P72L,Silent,Missense_P72L,Silent,Missense_P243L,Missense_P127L,Silent,Missense_P72L,Silent,Missense_P393L,Silent,Silent,Missense_P243L,Silent,Missense_P243L,Missense_P212L,Missense_P424L,Silent,Silent,Silent,Silent,Missense_P243L,Missense_P303L,Missense_P243L,Missense_P212L,Missense_P72L,Missense_P212L,Missense_P412L,Missense_P243L,Missense_P243L,Silent exm147735 1 213414243 [C/G] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Missense_S178T,Missense_S10T,Missense_S10T,Missense_S10T,Missense_S123T,Missense_S10T,Missense_S123T,Missense_S10T,Missense_S294T,Missense_S178T,Missense_S10T,Missense_S123T,Missense_S10T,Missense_S444T,Silent,Silent,Missense_S294T,Missense_S10T,Missense_S294T,Missense_S263T,Missense_S475T,Missense_S10T,Missense_S10T,Silent,Missense_S10T,Missense_S294T,Missense_S354T,Missense_S294T,Missense_S263T,Missense_S123T,Missense_S263T,Missense_S463T,Missense_S294T,Missense_S294T,Silent exm147737 1 213414285 [A/G] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Missense_D192G,Missense_D24G,Missense_D24G,Missense_D24G,Missense_D137G,Missense_D24G,Missense_D137G,Missense_D24G,Missense_D308G,Missense_D192G,Missense_D24G,Missense_D137G,Missense_D24G,Missense_D458G,Silent,Silent,Missense_D308G,Missense_D24G,Missense_D308G,Missense_D277G,Missense_D489G,Missense_D24G,Missense_D24G,Silent,Missense_D24G,Missense_D308G,Missense_D368G,Missense_D308G,Missense_D277G,Missense_D137G,Missense_D277G,Missense_D477G,Missense_D308G,Missense_D308G,Silent exm147741 1 213414299 [T/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Missense_S197P,Missense_S29P,Missense_S29P,Missense_S29P,Missense_S142P,Missense_S29P,Missense_S142P,Missense_S29P,Missense_S313P,Missense_S197P,Missense_S29P,Missense_S142P,Missense_S29P,Missense_S463P,Silent,Silent,Missense_S313P,Missense_S29P,Missense_S313P,Missense_S282P,Missense_S494P,Missense_S29P,Missense_S29P,Silent,Missense_S29P,Missense_S313P,Missense_S373P,Missense_S313P,Missense_S282P,Missense_S142P,Missense_S282P,Missense_S482P,Missense_S313P,Missense_S313P,Silent exm147750 1 213414479 [T/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Missense_L257F,Missense_L89F,Missense_L89F,Missense_L89F,Missense_L202F,Missense_L89F,Missense_L202F,Missense_L89F,Missense_L373F,Missense_L257F,Missense_L89F,Missense_L202F,Missense_L89F,Missense_L523F,Silent,Silent,Missense_L373F,Missense_L89F,Missense_L373F,Missense_L342F,Missense_L554F,Missense_L89F,Missense_L89F,Silent,Missense_L89F,Missense_L373F,Missense_L433F,Missense_L373F,Missense_L342F,Missense_L202F,Missense_L342F,Missense_L542F,Missense_L373F,Missense_L373F,Silent exm147751 1 213414501 [G/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Missense_P264R,Missense_P96R,Missense_P96R,Missense_P96R,Missense_P209R,Missense_P96R,Missense_P209R,Missense_P96R,Missense_P380R,Missense_P264R,Missense_P96R,Missense_P209R,Missense_P96R,Missense_P530R,Silent,Silent,Missense_P380R,Missense_P96R,Missense_P380R,Missense_P349R,Missense_P561R,Missense_P96R,Missense_P96R,Silent,Missense_P96R,Missense_P380R,Missense_P440R,Missense_P380R,Missense_P349R,Missense_P209R,Missense_P349R,Missense_P549R,Missense_P380R,Missense_P380R,Silent exm147753 1 213414543 [A/G] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Missense_N278S,Missense_N110S,Missense_N110S,Missense_N110S,Missense_N223S,Missense_N110S,Missense_N223S,Missense_N110S,Missense_N394S,Missense_N278S,Missense_N110S,Missense_N223S,Missense_N110S,Missense_N544S,Silent,Silent,Missense_N394S,Missense_N110S,Missense_N394S,Missense_N363S,Missense_N575S,Missense_N110S,Missense_N110S,Silent,Missense_N110S,Missense_N394S,Missense_N454S,Missense_N394S,Missense_N363S,Missense_N223S,Missense_N363S,Missense_N563S,Missense_N394S,Missense_N394S,Silent exm147759 1 213414734 [A/G] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Missense_D342N,Missense_D174N,Missense_D174N,Missense_D174N,Missense_D287N,Missense_D174N,Missense_D287N,Missense_D174N,Missense_D458N,Missense_D342N,Missense_D174N,Missense_D287N,Missense_D174N,Missense_D608N,Silent,Silent,Missense_D458N,Missense_D174N,Missense_D458N,Missense_D427N,Missense_D639N,Missense_D174N,Missense_D174N,Silent,Missense_D174N,Missense_D458N,Missense_D518N,Missense_D458N,Missense_D427N,Missense_D287N,Missense_D427N,Missense_D627N,Missense_D458N,Missense_D458N,Silent exm147761 1 213414759 [C/G] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Missense_T350S,Missense_T182S,Missense_T182S,Missense_T182S,Missense_T295S,Missense_T182S,Missense_T295S,Missense_T182S,Missense_T466S,Missense_T350S,Missense_T182S,Missense_T295S,Missense_T182S,Missense_T616S,Silent,Silent,Missense_T466S,Missense_T182S,Missense_T466S,Missense_T435S,Missense_T647S,Missense_T182S,Missense_T182S,Silent,Missense_T182S,Missense_T466S,Missense_T526S,Missense_T466S,Missense_T435S,Missense_T295S,Missense_T435S,Missense_T635S,Missense_T466S,Missense_T466S,Silent exm147768 1 213415122 [A/G] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Missense_Y471C,Missense_Y303C,Missense_Y303C,Missense_Y303C,Missense_Y416C,Missense_Y303C,Missense_Y416C,Missense_Y303C,Missense_Y587C,Missense_Y471C,Missense_Y303C,Missense_Y416C,Missense_Y303C,Missense_Y737C,Silent,Silent,Missense_Y587C,Missense_Y303C,Missense_Y587C,Missense_Y556C,Missense_Y768C,Missense_Y303C,Missense_Y303C,Silent,Missense_Y303C,Missense_Y587C,Missense_Y647C,Missense_Y587C,Missense_Y556C,Missense_Y416C,Missense_Y556C,Missense_Y756C,Missense_Y587C,Missense_Y587C,Silent 1KG_1_213415338 1 213415338 [I/D] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON exm147775 1 213415378 [T/G] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Missense_L556F,Missense_L388F,Missense_L388F,Missense_L388F,Missense_L501F,Missense_L388F,Missense_L501F,Missense_L388F,Missense_L672F,Missense_L556F,Missense_L388F,Missense_L501F,Missense_L388F,Missense_L822F,Silent,Silent,Missense_L672F,Missense_L388F,Missense_L672F,Missense_L641F,Missense_L853F,Missense_L388F,Missense_L388F,Silent,Missense_L388F,Missense_L672F,Missense_L732F,Missense_L672F,Missense_L641F,Missense_L501F,Missense_L641F,Missense_L841F,Missense_L672F,Missense_L672F,Silent exm147776 1 213415395 [A/C] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Missense_T562N,Missense_T394N,Missense_T394N,Missense_T394N,Missense_T507N,Missense_T394N,Missense_T507N,Missense_T394N,Missense_T678N,Missense_T562N,Missense_T394N,Missense_T507N,Missense_T394N,Missense_T828N,Silent,Silent,Missense_T678N,Missense_T394N,Missense_T678N,Missense_T647N,Missense_T859N,Missense_T394N,Missense_T394N,Silent,Missense_T394N,Missense_T678N,Missense_T738N,Missense_T678N,Missense_T647N,Missense_T507N,Missense_T647N,Missense_T847N,Missense_T678N,Missense_T678N,Silent exm147783 1 213415595 [A/G] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 EXON Missense_V629M,Missense_V461M,Missense_V461M,Missense_V461M,Missense_V574M,Missense_V461M,Missense_V574M,Missense_V461M,Missense_V745M,Missense_V629M,Missense_V461M,Missense_V574M,Missense_V461M,Missense_V895M,Silent,Silent,Missense_V745M,Missense_V461M,Missense_V745M,Missense_V714M,Missense_V926M,Missense_V461M,Missense_V461M,Silent,Missense_V461M,Missense_V745M,Missense_V805M,Missense_V745M,Missense_V714M,Missense_V574M,Missense_V714M,Missense_V914M,Missense_V745M,Missense_V745M,Silent rs10494957 1 213416302 [T/G] NM_001349657,NM_001349669,NM_001287220,NM_001349663,NM_001349661,NM_001349664,NM_001349662,NM_001349666,NM_001349649,NM_001349658,NM_001349670,NM_001349659,NM_001349671,NM_001349646,NR_146209,NR_146210,NM_001349650,NM_001349667,NM_001287221,NM_001287218,NM_012424,NM_001349672,NM_001349668,NR_146207,NM_001349665,NM_001349653,NM_001349647,NM_001349652,NM_001349654,NM_001349660,NM_001287219,NM_001136138,NM_001349648,NM_001349651,NR_146208 RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1,RPS6KC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12026921 1 213464445 [A/C] rs10864040 1 213468908 [T/C] rs1655996 1 213491399 [T/C] rs1187767 1 213524560 [T/G] rs1656022 1 213527242 [A/G] exm2265080 1 213527242 [A/G] rs1656015 1 213536227 [T/C] rs1656014 1 213536488 [A/G] rs753369 1 213542560 [T/C] rs17020562 1 213542706 [T/C] rs11120119 1 213562365 [A/G] rs320464 1 213589359 [T/G] rs748795 1 213594118 [A/G] rs93366 1 213594316 [T/C] rs12049265 1 213612779 [A/G] rs320451 1 213617738 [T/C] rs320442 1 213625292 [A/G] rs4655282 1 213626376 [T/C] rs12036568 1 213636801 [T/C] rs320480 1 213641943 [A/C] rs10494958 1 213657361 [T/C] rs10864046 1 213657633 [T/G] rs320471 1 213657863 [A/G] rs11120139 1 213661444 [A/G] rs320374 1 213666937 [T/G] rs320379 1 213677091 [T/C] rs6666874 1 213679087 [T/C] rs893665 1 213692263 [T/C] rs320424 1 213703223 [T/C] rs10864051 1 213707153 [T/C] rs7555498 1 213709724 [T/C] rs11120157 1 213714381 [A/G] rs17020954 1 213719643 [T/C] rs320395 1 213720321 [A/G] exm2264949 1 213743905 [A/G] rs6540792 1 213754770 [T/G] rs12062324 1 213760845 [A/G] rs11120168 1 213772821 [A/G] rs4561011 1 213776679 [A/G] exm-rs17021090 1 213781198 [A/G] rs17021094 1 213785732 [A/G] rs4147209 1 213793240 [A/G] rs11805334 1 213796830 [A/G] rs4655454 1 213805502 [A/G] rs12144639 1 213817311 [A/G] rs11120179 1 213825023 [A/G] rs12406454 1 213831905 [T/C] rs17021216 1 213849457 [T/G] rs2359920 1 213852508 [A/G] rs12035846 1 213854151 [A/G] rs1509867 1 213861309 [A/G] rs12759209 1 213866694 [T/C] rs11120195 1 213868299 [A/G] rs1588374 1 213873500 [T/C] rs12044591 1 213887109 [A/G] rs11120203 1 213888861 [A/C] rs1509869 1 213890404 [A/G] rs1771901 1 213905747 [T/C] rs4655466 1 213913001 [A/G] rs2793276 1 213915710 [T/G] rs701903 1 213923233 [A/G] rs5011573 1 213925444 [T/C] rs10864069 1 213947269 [A/C] rs4233314 1 213947964 [T/C] rs2282386 1 213967677 [T/C] rs12403122 1 213977989 [T/C] rs11120217 1 213978359 [T/G] rs17021481 1 213985718 [A/G] rs6693625 1 214002260 [T/C] NR_037850 PROX1-AS1 Silent rs6540803 1 214009019 [T/C] NR_037850 PROX1-AS1 Silent rs853752 1 214043216 [T/G] NR_037850 PROX1-AS1 Silent exm2268972 1 214043216 [T/G] NR_037850 PROX1-AS1 Silent rs6679279 1 214048734 [T/C] NR_037850 PROX1-AS1 Silent rs701899 1 214051497 [T/C] NR_037850 PROX1-AS1 Silent rs853757 1 214051639 [T/C] NR_037850 PROX1-AS1 Silent rs10864079 1 214077644 [A/G] NR_037850 PROX1-AS1 Silent rs1891062 1 214083466 [T/C] NR_037850 PROX1-AS1 Silent rs1073569 1 214095868 [T/C] NR_037850 PROX1-AS1 Silent rs7550337 1 214099716 [T/C] NR_037850,NR_046189 PROX1-AS1,LINC00538 EXON Silent,Silent rs11120231 1 214110152 [A/C] NR_037850 PROX1-AS1 Silent rs340849 1 214118090 [A/C] NR_037850 PROX1-AS1 Silent rs6540809 1 214118343 [A/G] NR_037850 PROX1-AS1 Silent rs6700065 1 214135660 [T/G] NR_037850 PROX1-AS1 Silent rs12567631 1 214140993 [T/C] NR_037850 PROX1-AS1 Silent rs1431979 1 214152475 [T/C] NR_037850 PROX1-AS1 Silent rs340879 1 214156514 [T/C] NR_037850 PROX1-AS1 Silent exm-rs340874 1 214159256 [T/C] NR_037850 PROX1-AS1 Silent rs340839 1 214161820 [A/G] NM_001270616 PROX1 EXON Silent exm147809 1 214170134 [T/C] NM_001270616,NM_002763 PROX1,PROX1 EXON Missense_P86S,Missense_P86S exm147826 1 214170837 [T/C] NM_001270616,NM_002763 PROX1,PROX1 EXON Missense_M320T,Missense_M320T exm147827 1 214170885 [A/C] NM_001270616,NM_002763 PROX1,PROX1 EXON Missense_H336P,Missense_H336P rs3754138 1 214179972 [T/G] NM_001270616,NM_002763 PROX1,PROX1 Silent,Silent kgp177016 1 214213175 [A/C] NM_001270616,NM_002763 PROX1,PROX1 EXON Silent,Silent kgp3651025 1 214224428 [T/C] rs1223742 1 214280532 [A/G] rs1660383 1 214288897 [A/G] rs6697593 1 214292127 [A/G] rs7540655 1 214301559 [T/C] rs10864086 1 214318748 [A/C] rs1795059 1 214324877 [A/G] rs1223761 1 214332987 [A/C] rs11589520 1 214350621 [A/G] rs17022092 1 214351618 [A/G] rs11120266 1 214359179 [T/C] rs12026597 1 214363164 [T/C] rs10494969 1 214381305 [A/G] rs9787247 1 214392240 [T/C] rs12134227 1 214393540 [A/G] rs1223777 1 214395861 [A/G] rs7539006 1 214398058 [A/C] exm2250721 1 214402313 [A/G] rs4655320 1 214403709 [A/G] rs1795065 1 214405194 [A/G] rs6682783 1 214418139 [T/G] rs4655323 1 214420058 [T/C] rs4265402 1 214430221 [A/C] rs9308433 1 214457009 [T/C] NM_020197 SMYD2 Silent rs6660726 1 214461354 [A/G] NM_020197 SMYD2 Silent rs11120288 1 214462988 [A/G] NM_020197 SMYD2 Silent rs4655330 1 214466068 [A/G] NM_020197 SMYD2 Silent rs6701764 1 214469508 [T/G] NM_020197 SMYD2 Silent rs10779613 1 214476561 [T/C] NM_020197 SMYD2 Silent exm147862 1 214488172 [T/C] NM_020197 SMYD2 EXON Missense_P102L variant.9898 1 214491482 [A/C] NM_020197 SMYD2 EXON Missense_H137N exm147875 1 214492286 [A/G] NM_020197 SMYD2 EXON Missense_G165E exm147876 1 214492289 [T/G] NM_020197 SMYD2 EXON Missense_F166C rs12737638 1 214494006 [T/C] NM_020197 SMYD2 Silent rs6687629 1 214495139 [A/G] NM_020197 SMYD2 Silent indel.9899 1 214497998 [I/D] NM_020197 SMYD2 EXON exm147893 1 214504351 [A/G] NM_020197 SMYD2 EXON Missense_R292Q exm147906 1 214507580 [A/G] NM_020197 SMYD2 EXON Missense_M384V exm147907 1 214507610 [T/G] NM_020197 SMYD2 EXON Missense_G394C exm147910 1 214510115 [T/G] NM_020197 SMYD2 EXON Missense_I430M rs1048791 1 214511519 [T/C] rs1472441 1 214527252 [A/G] NM_005401 PTPN14 EXON Silent exm2250722 1 214531313 [A/G] NM_005401 PTPN14 EXON Synonymous_F1172F exm147923 1 214537946 [A/G] NM_005401 PTPN14 EXON Missense_P1115L rs1135352 1 214542819 [T/C] NM_005401 PTPN14 EXON Synonymous_E1084E exm147932 1 214542847 [A/G] NM_005401 PTPN14 EXON Missense_T1075I exm147933 1 214542868 [A/G] NM_005401 PTPN14 EXON Missense_T1068M exm147935 1 214542910 [A/G] NM_005401 PTPN14 EXON Missense_T1054M exm147937 1 214542934 [G/C] NM_005401 PTPN14 EXON Missense_T1046R rs3738425 1 214543098 [A/G] NM_005401 PTPN14 Silent rs7532953 1 214547938 [T/G] NM_005401 PTPN14 Silent exm147951 1 214549699 [T/C] NM_005401 PTPN14 EXON Missense_I924V exm147959 1 214551333 [A/G] NM_005401 PTPN14 EXON Missense_V886A exm147960 1 214551360 [T/C] NM_005401 PTPN14 EXON Missense_R877Q exm147965 1 214551420 [T/C] NM_005401 PTPN14 EXON Missense_G857D rs6676318 1 214554966 [T/C] NM_005401 PTPN14 Silent exm147967 1 214556683 [T/C] NM_005401 PTPN14 EXON Missense_S839G exm147978 1 214556873 [T/C] NM_005401 PTPN14 EXON Missense_M775I exm147980 1 214556913 [T/C] NM_005401 PTPN14 EXON Missense_G762E exm147986 1 214557015 [T/C] NM_005401 PTPN14 EXON Missense_R728Q exm148001 1 214557189 [A/G] NM_005401 PTPN14 EXON Missense_T670M exm148002 1 214557196 [A/G] NM_005401 PTPN14 EXON Missense_R668C exm148009 1 214557312 [A/G] NM_005401 PTPN14 EXON Missense_T629M exm148012 1 214557424 [T/C] NM_005401 PTPN14 EXON Missense_G592S exm1760791 1 214557430 [T/C] NM_005401 PTPN14 EXON Missense_V590I exm148023 1 214557552 [C/G] NM_005401 PTPN14 EXON Missense_G549A exm148028 1 214557615 [A/G] NM_005401 PTPN14 EXON Missense_P528L exm148030 1 214557685 [A/C] NM_005401 PTPN14 EXON Missense_V505F exm148032 1 214557706 [T/C] NM_005401 PTPN14 EXON Missense_V498I exm148033 1 214557727 [A/G] NM_005401 PTPN14 EXON Missense_R491W exm148035 1 214557774 [T/C] NM_005401 PTPN14 EXON Missense_H475R exm148037 1 214557815 [A/G] NM_005401 PTPN14 EXON Synonymous_S461S exm2250723 1 214557815 [A/G] NM_005401 PTPN14 EXON Synonymous_S461S exm148046 1 214557945 [T/C] NM_005401 PTPN14 EXON Missense_S418N exm148053 1 214558119 [T/G] NM_005401 PTPN14 EXON Missense_H360P rs3013446 1 214558228 [A/G] NM_005401 PTPN14 Silent rs3013445 1 214558658 [A/G] NM_005401 PTPN14 Silent exm148060 1 214560201 [A/G] NM_005401 PTPN14 EXON Missense_T351M exm148073 1 214568242 [T/C] NM_005401 PTPN14 EXON Synonymous_T282T newrs11580603 1 214571251 [A/C] NM_005401 PTPN14 Silent exm148080 1 214575066 [A/G] NM_005401 PTPN14 EXON Missense_R211C exm148087 1 214576241 [T/C] NM_005401 PTPN14 EXON Missense_E189G rs10779614 1 214589914 [A/G] NM_005401 PTPN14 Silent rs4540625 1 214593855 [A/G] NM_005401 PTPN14 Silent rs4465172 1 214608879 [T/C] NM_005401 PTPN14 Silent rs4253890 1 214609822 [A/C] NM_005401 PTPN14 Silent rs6698662 1 214611723 [T/G] NM_005401 PTPN14 Silent exm148104 1 214625224 [T/C] NM_005401 PTPN14 EXON Missense_A90T exm148108 1 214625316 [A/G] NM_005401 PTPN14 EXON Missense_T59M rs12757404 1 214629616 [A/G] NM_005401 PTPN14 Silent rs10864104 1 214644771 [T/C] NM_005401 PTPN14 Silent rs4655351 1 214645307 [T/C] NM_005401 PTPN14 Silent rs10494979 1 214658211 [A/G] NM_005401 PTPN14 Silent rs10864105 1 214662822 [T/C] NM_005401 PTPN14 Silent rs11120342 1 214664556 [T/C] NM_005401 PTPN14 Silent exm2268828 1 214668462 [T/C] NM_005401 PTPN14 Silent rs6680964 1 214677026 [A/G] NM_005401 PTPN14 Silent rs6693492 1 214685978 [A/G] NM_005401 PTPN14 Silent rs7541263 1 214716479 [T/G] NM_005401 PTPN14 Silent rs11120350 1 214727383 [A/G] rs7516017 1 214755795 [A/G] rs12563432 1 214756410 [A/G] rs2807650 1 214762003 [T/C] rs2807653 1 214763986 [T/C] rs2807663 1 214786635 [A/C] NM_016343 CENPF Silent variant.9909 1 214787260 [A/G] NM_016343 CENPF Silent variant.9910 1 214788232 [T/G] NM_016343 CENPF EXON Nonsense_E74X rs2666834 1 214789375 [T/C] NM_016343 CENPF Silent exm148129 1 214791951 [T/C] NM_016343 CENPF EXON Missense_A132V variant.9911 1 214792522 [T/C] NM_016343 CENPF EXON Nonsense_R178X rs17023277 1 214793813 [A/G] NM_016343 CENPF Silent exm148141 1 214794043 [A/G] NM_016343 CENPF EXON Missense_I207V exm148142 1 214794049 [T/C] NM_016343 CENPF EXON Missense_R209W exm148143 1 214794059 [A/C] NM_016343 CENPF EXON Missense_A212D exm148148 1 214794191 [A/G] NM_016343 CENPF EXON Missense_R256Q exm148154 1 214795454 [T/C] NM_016343 CENPF EXON Missense_R300C exm148158 1 214795521 [T/C] NM_016343 CENPF EXON Missense_L322P exm148163 1 214795611 [A/G] NM_016343 CENPF EXON Missense_Q352R exm148166 1 214802390 [A/G] NM_016343 CENPF EXON Missense_Y357C exm148168 1 214802465 [A/G] NM_016343 CENPF EXON Missense_R382K exm148173 1 214803925 [A/C] NM_016343 CENPF EXON Missense_I415L exm148185 1 214811244 [C/G] NM_016343 CENPF EXON Missense_H494Q variant.9913 1 214811320 [T/C] NM_016343 CENPF EXON Nonsense_Q520X exm148189 1 214813267 [A/G] NM_016343 CENPF EXON Missense_K529R exm148202 1 214813601 [C/G] NM_016343 CENPF EXON Missense_L640F exm148209 1 214813782 [A/G] NM_016343 CENPF EXON Missense_M701V exm148211 1 214813941 [G/C] NM_016343 CENPF EXON Missense_Q754E exm148214 1 214814059 [T/G] NM_016343 CENPF EXON Missense_M793R exm148215 1 214814079 [A/G] NM_016343 CENPF EXON Missense_I800V exm148217 1 214814125 [A/G] NM_016343 CENPF EXON Missense_R815H 1KG_1_214814173 1 214814173 [I/D] NM_016343 CENPF EXON exm148219 1 214814276 [A/C] NM_016343 CENPF EXON Missense_E865D exm148236 1 214814733 [T/G] NM_016343 CENPF EXON Missense_Y1018D exm148238 1 214814778 [A/G] NM_016343 CENPF EXON Missense_G1033R exm148240 1 214814794 [A/G] NM_016343 CENPF EXON Missense_D1038G exm148242 1 214814814 [A/G] NM_016343 CENPF EXON Missense_A1045T exm148246 1 214814995 [T/C] NM_016343 CENPF EXON Missense_T1105I indel.9916 1 214815018 [D/I] NM_016343 CENPF EXON exm148255 1 214815116 [A/T] NM_016343 CENPF EXON Missense_E1145D exm148261 1 214815298 [A/G] NM_016343 CENPF EXON Missense_Y1206C exm148262 1 214815304 [T/C] NM_016343 CENPF EXON Missense_A1208V var_1_214815384 1 214815384 [T/C] NM_016343 CENPF EXON Nonsense_Q1235X exm1760975 1 214815438 [T/A] NM_016343 CENPF EXON Missense_M1253L exm148270 1 214815484 [C/G] NM_016343 CENPF EXON Missense_A1268G exm148271 1 214815492 [A/G] NM_016343 CENPF EXON Missense_K1271E exm148274 1 214815567 [A/G] NM_016343 CENPF EXON Missense_T1296A exm1760977 1 214815609 [C/G] NM_016343 CENPF EXON Missense_L1310V exm148288 1 214815888 [T/C] NM_016343 CENPF EXON Missense_H1403Y exm148290 1 214815916 [T/C] NM_016343 CENPF EXON Missense_L1412S exm148291 1 214815970 [G/C] NM_016343 CENPF EXON Missense_S1430C exm148292 1 214815994 [A/G] NM_016343 CENPF EXON Missense_Y1438C exm148294 1 214816029 [A/T] NM_016343 CENPF EXON Missense_S1450T exm148296 1 214816036 [A/G] NM_016343 CENPF EXON Missense_N1452S exm2273743 1 214816198 [T/G] NM_016343 CENPF EXON Missense_M1506R exm148302 1 214816201 [T/C] NM_016343 CENPF EXON Missense_S1507F exm148303 1 214816224 [A/G] NM_016343 CENPF EXON Missense_A1515T exm148304 1 214816263 [T/C] NM_016343 CENPF EXON Missense_C1528R exm148306 1 214816297 [A/G] NM_016343 CENPF EXON Missense_K1539R exm148307 1 214816309 [T/C] NM_016343 CENPF EXON Missense_S1543L exm148326 1 214817958 [T/C] NM_016343 CENPF EXON Missense_T1682I exm148329 1 214818021 [A/G] NM_016343 CENPF EXON Missense_N1703S exm148332 1 214818155 [A/G] NM_016343 CENPF EXON Missense_E1748K exm148333 1 214818215 [A/G] NM_016343 CENPF EXON Missense_D1768N exm148335 1 214818223 [T/A] NM_016343 CENPF EXON Missense_H1770Q exm148337 1 214818291 [A/G] NM_016343 CENPF EXON Missense_R1793H exm148351 1 214818548 [T/C] NM_016343 CENPF EXON Missense_R1879C indel.9922 1 214818626 [D/I] NM_016343 CENPF EXON exm148354 1 214818627 [A/G] NM_016343 CENPF EXON Missense_S1905N exm148355 1 214818678 [A/G] NM_016343 CENPF EXON Missense_E1922G exm148357 1 214818803 [T/C] NM_016343 CENPF EXON Missense_R1964C exm148358 1 214818804 [A/G] NM_016343 CENPF EXON Missense_R1964H exm148360 1 214818821 [A/G] NM_016343 CENPF EXON Missense_M1970V exm148364 1 214818837 [T/C] NM_016343 CENPF EXON Missense_T1975M exm148365 1 214818846 [A/G] NM_016343 CENPF EXON Missense_D1978G exm148368 1 214818912 [A/G] NM_016343 CENPF EXON Missense_H2000R exm148369 1 214818939 [T/C] NM_016343 CENPF EXON Missense_V2009A exm148370 1 214818945 [A/C] NM_016343 CENPF EXON Missense_E2011A exm148371 1 214818951 [T/C] NM_016343 CENPF EXON Missense_T2013M exm148373 1 214819026 [A/C] NM_016343 CENPF EXON Missense_Q2038P exm148374 1 214819044 [T/C] NM_016343 CENPF EXON Missense_S2044L exm148375 1 214819068 [A/G] NM_016343 CENPF EXON Missense_C2052Y exm1760994 1 214819128 [A/C] NM_016343 CENPF EXON Missense_S2072Y exm148382 1 214819328 [A/G] NM_016343 CENPF EXON Missense_A2139T exm148384 1 214819352 [T/C] NM_016343 CENPF EXON Missense_R2147W exm148388 1 214819445 [A/G] NM_016343 CENPF EXON Missense_E2178K exm148389 1 214819463 [A/G] NM_016343 CENPF EXON Missense_V2184I exm148397 1 214819581 [A/G] NM_016343 CENPF EXON Missense_Q2223R exm148398 1 214819587 [A/G] NM_016343 CENPF EXON Missense_Q2225R exm148402 1 214819739 [T/G] NM_016343 CENPF EXON Missense_C2276G exm148404 1 214819757 [A/G] NM_016343 CENPF EXON Missense_M2282V exm148408 1 214819791 [T/C] NM_016343 CENPF EXON Missense_I2293T exm148409 1 214819818 [A/G] NM_016343 CENPF EXON Missense_S2302N exm148411 1 214819838 [T/C] NM_016343 CENPF EXON Missense_R2309C exm148413 1 214819850 [A/G] NM_016343 CENPF EXON Missense_D2313N exm148418 1 214819980 [T/C] NM_016343 CENPF EXON Missense_A2356V exm148422 1 214820079 [G/C] NM_016343 CENPF EXON Missense_T2389S rs3748697 1 214820099 [A/G] NM_016343 CENPF EXON Missense_N2396D exm148423 1 214820099 [A/G] NM_016343 CENPF EXON Missense_N2396D exm148427 1 214820239 [A/G] NM_016343 CENPF EXON Missense_M2442I exm148429 1 214820265 [A/G] NM_016343 CENPF EXON Missense_N2451S newrs151128805 1 214820465 [T/G] NM_016343 CENPF EXON Nonsense_E2518X exm148440 1 214820468 [A/G] NM_016343 CENPF EXON Missense_K2519E exm148448 1 214820570 [A/G] NM_016343 CENPF EXON Missense_E2553K exm1761003 1 214820634 [T/C] NM_016343 CENPF EXON Missense_S2574F exm148449 1 214820666 [A/G] NM_016343 CENPF EXON Missense_V2585M indel.9929 1 214825057 [I/D] NM_016343 CENPF EXON exm148469 1 214826196 [A/G] NM_016343 CENPF EXON Missense_R2729Q exm1761019 1 214826321 [A/G] NM_016343 CENPF EXON Missense_K2771E exm148484 1 214830299 [A/G] NM_016343 CENPF EXON Missense_D2837N rs438034 1 214830617 [A/G] NM_016343 CENPF EXON Missense_R2943G indel.9933 1 214830752 [D/I] NM_016343 CENPF EXON rs417774 1 214833425 [A/G] NM_016343 CENPF Silent indel.9938 1 214836947 [I/D] NM_016343 CENPF EXON exm148506 1 214836950 [A/G] NM_016343 CENPF EXON Missense_R3053Q exm148512 1 214837110 [C/G] NM_016343 CENPF EXON Missense_N3106K rs1511047 1 214863137 [T/C] rs2597661 1 214863736 [A/G] rs335554 1 214888381 [T/C] rs335555 1 214889859 [T/C] rs11804720 1 214910624 [T/C] rs6659655 1 214920883 [A/G] rs6699978 1 214921207 [A/G] rs4655371 1 214939196 [T/C] rs11120394 1 214941018 [T/G] rs12747547 1 214962756 [A/G] exm-rs12734277 1 214962771 [T/C] rs992228 1 214963300 [T/C] rs12407130 1 214991610 [A/C] rs1272551 1 214999519 [A/G] rs1856050 1 215005621 [A/G] rs6699503 1 215030041 [A/C] rs1415181 1 215031151 [T/C] rs1268910 1 215058414 [T/C] rs11807086 1 215064388 [A/G] rs10864137 1 215068065 [T/C] rs7524233 1 215080890 [T/C] rs12025511 1 215093394 [A/G] rs554343 1 215094201 [A/G] rs1963938 1 215110998 [A/G] rs497870 1 215112145 [A/G] rs12073556 1 215116235 [A/G] rs539717 1 215117267 [T/C] rs476557 1 215140251 [A/C] rs2077982 1 215150317 [T/C] exm2263849 1 215154120 [A/C] rs10864142 1 215165561 [A/C] rs6659170 1 215166503 [A/G] rs12031300 1 215171545 [A/G] rs7538655 1 215178824 [A/G] indel.9940 1 215179299 [D/I] NM_001017424 KCNK2 rs12131478 1 215186972 [A/G] NM_001017424 KCNK2 Silent rs2841612 1 215187250 [A/C] NM_001017424 KCNK2 Silent rs2123331 1 215220345 [A/G] NM_001017424 KCNK2 Silent rs2841615 1 215222115 [T/G] NM_001017424 KCNK2 Silent rs12131054 1 215228234 [T/C] NM_001017424 KCNK2 Silent rs1157492 1 215238904 [T/C] NM_001017424 KCNK2 Silent rs2363561 1 215255307 [T/C] NM_001017424 KCNK2 Silent exm148525 1 215259714 [T/C] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 EXON Missense_A13V,Missense_A32V,Missense_A17V rs12133857 1 215264486 [T/G] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent rs10864152 1 215269410 [T/C] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent exm2268973 1 215277616 [T/C] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent exm1761204 1 215298010 [T/C] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 EXON Missense_P127L,Missense_P146L,Missense_P131L rs10465699 1 215301524 [T/G] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent rs11120504 1 215307777 [T/G] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent rs2885812 1 215315037 [T/C] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent rs4509553 1 215317651 [T/C] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent rs10779645 1 215322806 [T/C] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent variant.9941 1 215342702 [T/C] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 EXON Synonymous_I208I,Synonymous_I227I,Synonymous_I212I variant.9942 1 215345355 [T/C] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 EXON Nonsense_Q214X,Nonsense_Q233X,Nonsense_Q218X rs10779651 1 215345938 [T/C] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent exm2250729 1 215368303 [T/C] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 EXON Synonymous_S273S,Synonymous_S292S,Synonymous_S277S var_1_215368319 1 215368319 [A/G] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 EXON Missense_D279N,Missense_D298N,Missense_D283N variant.9944 1 215368347 [A/G] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 EXON Nonsense_W288X,Nonsense_W307X,Nonsense_W292X rs12753507 1 215380352 [A/G] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent rs12080135 1 215396543 [T/G] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent variant.9945 1 215408222 [T/G] NM_001017424,NM_014217,NM_001017425 KCNK2,KCNK2,KCNK2 EXON Nonsense_E335X,Nonsense_E354X,Nonsense_E339X rs7549184 1 215412906 [A/G] rs946488 1 215415487 [T/C] rs9662592 1 215443789 [A/G] rs11120540 1 215456074 [T/C] rs4442346 1 215457085 [A/C] rs10494997 1 215460047 [A/G] rs2211126 1 215460631 [T/C] kgp6047689 1 215463944 [T/C] rs1588095 1 215513781 [T/C] rs6686570 1 215518364 [T/C] rs17024744 1 215551666 [T/C] rs2089427 1 215570581 [A/G] rs973197 1 215592251 [A/G] rs756174 1 215592497 [T/C] rs2174771 1 215607338 [A/G] rs1557174 1 215694431 [T/G] rs2797387 1 215712638 [T/C] rs11120592 1 215721124 [T/C] exm148582 1 215752436 [T/C] NM_001319295,NM_001319294,NM_016121 KCTD3,KCTD3,KCTD3 EXON Missense_T62I,Missense_T164I,Missense_T164I rs11803705 1 215753355 [T/G] NM_001319295,NM_001319294,NM_016121 KCTD3,KCTD3,KCTD3 Silent,Silent,Silent exm148594 1 215759981 [A/G] NM_001319295,NM_001319294,NM_016121 KCTD3,KCTD3,KCTD3 EXON Missense_S155N,Missense_S257N,Missense_S257N variant.9950 1 215781400 [T/C] NM_001319295,NM_001319294,NM_016121 KCTD3,KCTD3,KCTD3 EXON Nonsense_R349X,Nonsense_R451X,Nonsense_R451X 1KG_1_215781437 1 215781437 [I/D] NM_001319295,NM_001319294,NM_016121 KCTD3,KCTD3,KCTD3 EXON variant.9951 1 215792413 [T/G] NM_001319295,NM_001319294,NM_016121 KCTD3,KCTD3,KCTD3 Silent,Silent,Silent exm2250736 1 215792511 [T/C] NM_001319295,NM_001319294,NM_016121 KCTD3,KCTD3,KCTD3 EXON Synonymous_T484T,Synonymous_T586T,Synonymous_T588T exm148618 1 215792511 [T/C] NM_001319295,NM_001319294,NM_016121 KCTD3,KCTD3,KCTD3 EXON Synonymous_T484T,Synonymous_T586T,Synonymous_T588T exm148634 1 215793935 [A/C] NM_001319295,NM_001319294,NM_016121 KCTD3,KCTD3,KCTD3 EXON Missense_S704Y,Missense_S806Y,Missense_S808Y exm148637 1 215799170 [T/C] NM_206933 USH2A EXON Missense_S5188G exm148641 1 215802169 [T/C] NM_206933 USH2A EXON Missense_H5169R exm148642 1 215802181 [C/G] NM_206933 USH2A EXON Missense_A5165G exm148644 1 215802242 [T/C] NM_206933 USH2A EXON Missense_V5145I exm148647 1 215802248 [A/G] NM_206933 USH2A EXON Missense_R5143C exm148648 1 215802298 [A/G] NM_206933 USH2A EXON Missense_I5126T exm148649 1 215802301 [T/C] NM_206933 USH2A EXON Missense_R5125H exm148650 1 215802311 [A/G] NM_206933 USH2A EXON Missense_C5122R rs2797386 1 215805813 [A/G] NM_206933 USH2A Silent indel.9954 1 215807970 [I/D] NM_206933 USH2A EXON exm148666 1 215808007 [A/G] NM_206933 USH2A EXON Missense_R5031W exm148667 1 215808022 [T/C] NM_206933 USH2A EXON Missense_K5026E exm148671 1 215812520 [A/T] NM_206933 USH2A EXON Missense_Q5010L exm148674 1 215812556 [A/G] NM_206933 USH2A EXON Missense_T4998M exm148676 1 215813908 [A/G] NM_206933 USH2A EXON Missense_A4987V exm148679 1 215813951 [T/C] NM_206933 USH2A EXON Missense_V4973M exm148680 1 215813959 [T/C] NM_206933 USH2A EXON Missense_G4970E exm148687 1 215814064 [T/C] NM_206933 USH2A EXON Missense_R4935Q newrs146733615 1 215814065 [A/G] NM_206933 USH2A EXON Nonsense_R4935X rs2677111 1 215816688 [A/C] NM_206933 USH2A Silent exm148691 1 215820902 [A/G] NM_206933 USH2A EXON Missense_T4918M exm148698 1 215821885 [T/C] NM_206933 USH2A EXON Missense_N4856S exm148699 1 215821909 [T/C] NM_206933 USH2A EXON Missense_R4848Q exm148702 1 215821933 [A/G] NM_206933 USH2A EXON Missense_L4840P exm148705 1 215821939 [T/C] NM_206933 USH2A EXON Missense_G4838E exm2250737 1 215821941 [A/G] NM_206933 USH2A EXON Synonymous_I4837I exm148713 1 215822039 [T/C] NM_206933 USH2A EXON Missense_V4805I exm148721 1 215823944 [T/G] NM_206933 USH2A EXON Missense_A4778D exm148725 1 215823962 [A/G] NM_206933 USH2A EXON Missense_S4772F exm148726 1 215824001 [T/C] NM_206933 USH2A EXON Missense_G4759E exm148732 1 215824086 [T/C] NM_206933 USH2A EXON Missense_G4731R exm148738 1 215844373 [T/C] NM_206933 USH2A EXON Missense_G4692R exm148742 1 215844463 [C/G] NM_206933 USH2A EXON Missense_Q4662E rs2066405 1 215845984 [A/G] NM_206933 USH2A Silent variant.9960 1 215847440 [A/G] NM_206933 USH2A Silent exm148756 1 215847544 [T/C] NM_206933 USH2A EXON Missense_R4570H exm148767 1 215847763 [T/A] NM_206933 USH2A EXON Missense_F4497Y exm148769 1 215847775 [T/C] NM_206933 USH2A EXON Missense_R4493H exm148770 1 215847776 [A/G] NM_206933 USH2A EXON Missense_R4493C exm148774 1 215847857 [A/G] NM_206933 USH2A EXON Missense_P4466S exm148777 1 215847892 [T/A] NM_206933 USH2A EXON Missense_V4454D exm148778 1 215847910 [T/C] NM_206933 USH2A EXON Missense_D4448G exm148779 1 215847956 [A/C] NM_206933 USH2A EXON Missense_V4433L newrs111033385 1 215848123 [T/G] NM_206933 USH2A EXON Nonsense_S4377X indel.9962 1 215848138 [I/D] NM_206933 USH2A EXON exm148792 1 215848154 [T/C] NM_206933 USH2A EXON Missense_V4367I variant.9963 1 215848253 [A/G] NM_206933 USH2A EXON Nonsense_Q4334X exm148800 1 215848370 [T/C] NM_206933 USH2A EXON Missense_I4295V indel.9964 1 215848403 [I/D] NM_206933 USH2A EXON exm148805 1 215848430 [T/A] NM_206933 USH2A EXON Missense_S4275T exm148807 1 215848436 [A/G] NM_206933 USH2A EXON Missense_Y4273H exm148809 1 215848510 [T/C] NM_206933 USH2A EXON Missense_H4248R var_1_215848539 1 215848539 [A/C] NM_206933 USH2A EXON Nonsense_Y4238X exm148813 1 215848586 [A/G] NM_206933 USH2A EXON Missense_F4223L exm148821 1 215848645 [T/C] NM_206933 USH2A EXON Missense_Q4203R exm148822 1 215848655 [A/C] NM_206933 USH2A EXON Missense_W4200G exm148824 1 215848678 [T/C] NM_206933 USH2A EXON Missense_R4192H exm148826 1 215848696 [A/G] NM_206933 USH2A EXON Missense_I4186T exm148827 1 215848748 [T/C] NM_206933 USH2A EXON Missense_T4169A exm148831 1 215848808 [A/G] NM_206933 USH2A EXON Missense_W4149R exm148835 1 215848861 [A/G] NM_206933 USH2A EXON Missense_T4131I exm148838 1 215848910 [A/G] NM_206933 USH2A EXON Missense_R4115C exm148840 1 215848921 [A/G] NM_206933 USH2A EXON Missense_S4111F newrs151148854 1 215848960 [T/C] NM_206933 USH2A Silent rs10864182 1 215849589 [T/C] NM_206933 USH2A Silent rs2797236 1 215851464 [A/C] NM_206933 USH2A Silent rs11578710 1 215853116 [T/C] NM_206933 USH2A Silent exm148846 1 215853544 [A/G] NM_206933 USH2A EXON Missense_R4081W exm148849 1 215853640 [T/C] NM_206933 USH2A EXON Missense_A4049T rs2797239 1 215857876 [T/C] NM_206933 USH2A Silent rs2820691 1 215861411 [T/G] NM_206933 USH2A Silent exm2268829 1 215862696 [T/C] NM_206933 USH2A Silent rs4628479 1 215868952 [A/G] NM_206933 USH2A Silent rs7546433 1 215880177 [A/G] NM_206933 USH2A Silent rs6692669 1 215885296 [A/G] NM_206933 USH2A Silent rs4465171 1 215886975 [T/C] NM_206933 USH2A Silent rs17620843 1 215891174 [T/C] NM_206933 USH2A Silent rs4655426 1 215893063 [T/C] NM_206933 USH2A Silent rs2820710 1 215897099 [T/G] NM_206933 USH2A Silent rs2820716 1 215899617 [T/C] NM_206933 USH2A Silent exm148861 1 215901392 [T/C] NM_206933 USH2A EXON Missense_V4016M exm148868 1 215901511 [A/G] NM_206933 USH2A EXON Missense_T3976M newrs142381713 1 215901511 [A/G] NM_206933 USH2A EXON Missense_T3976M exm148873 1 215901574 [T/C] NM_206933 USH2A EXON Nonsense_W3955X exm148878 1 215901623 [T/C] NM_206933 USH2A EXON Missense_E3939K variant.9973 1 215901728 [T/G] NM_206933 USH2A Silent rs4233312 1 215912320 [T/C] NM_206933 USH2A Silent exm148884 1 215914751 [T/G] NM_206933 USH2A EXON Missense_P3893T exm148888 1 215914826 [T/C] NM_206933 USH2A EXON Missense_M3868V exm148889 1 215914831 [A/G] NM_206933 USH2A EXON Missense_A3866V exm148895 1 215916563 [A/G] NM_206933 USH2A EXON Missense_T3835I exm148896 1 215916600 [T/C] NM_206933 USH2A EXON Missense_V3823I exm148902 1 215916663 [T/C] NM_206933 USH2A EXON Missense_E3802K rs2364865 1 215919848 [A/G] NM_206933 USH2A Silent rs12141500 1 215921956 [A/G] NM_206933 USH2A Silent rs2488418 1 215929795 [A/G] NM_206933 USH2A Silent variant.9976 1 215931936 [T/C] NM_206933 USH2A Silent var_1_215932030 1 215932030 [A/G] NM_206933 USH2A EXON Nonsense_Q3766X variant.9979 1 215932085 [T/G] NM_206933 USH2A EXON Nonsense_Y3747X exm148910 1 215933008 [T/C] NM_206933 USH2A EXON Missense_N3742S exm148912 1 215933042 [C/G] NM_206933 USH2A EXON Missense_E3731Q exm148916 1 215933138 [T/C] NM_206933 USH2A EXON Missense_E3699K variant.9980 1 215933178 [T/C] NM_206933 USH2A EXON Nonsense_W3685X exm148919 1 215933187 [T/C] NM_206933 USH2A Silent rs2797227 1 215933460 [T/C] NM_206933 USH2A Silent rs12146110 1 215936900 [A/G] NM_206933 USH2A Silent exm148921 1 215940062 [T/C] NM_206933 USH2A EXON Missense_E3670K exm148928 1 215953266 [T/C] NM_206933 USH2A EXON Missense_I3620V exm148933 1 215953355 [A/G] NM_206933 USH2A EXON Missense_P3590L newrs111033265 1 215955400 [T/C] NM_206933 USH2A EXON Missense_C3575Y variant.9984 1 215955412 [A/G] NM_206933 USH2A EXON Missense_T3571M exm148940 1 215955515 [A/G] NM_206933 USH2A EXON Missense_L3537F variant.9985 1 215955540 [T/C] NM_206933 USH2A Silent rs6665799 1 215955937 [T/G] NM_206933 USH2A Silent exm148944 1 215956101 [T/C] NM_206933 USH2A EXON Missense_R3522G var_1_215956104 1 215956104 [A/G] NM_206933 USH2A EXON Missense_W3521R exm148946 1 215956113 [T/C] NM_206933 USH2A EXON Missense_V3518I exm148948 1 215956155 [G/C] NM_206933 USH2A EXON Missense_P3504A exm148951 1 215956178 [T/G] NM_206933 USH2A EXON Missense_E3496A variant.9987 1 215956248 [A/C] NM_206933 USH2A EXON Nonsense_E3473X rs7518466 1 215956304 [A/G] NM_206933 USH2A Silent exm1761498 1 215960087 [T/C] NM_206933 USH2A EXON Missense_A3438T exm148967 1 215960138 [T/G] NM_206933 USH2A EXON Missense_T3421P exm148971 1 215960167 [T/G] NM_206933 USH2A EXON Missense_E3411A exm148978 1 215963510 [T/C] NM_206933 USH2A EXON Missense_C3358Y exm148987 1 215972336 [T/C] NM_206933 USH2A EXON Missense_G3291S exm148989 1 215972392 [A/G] NM_206933 USH2A EXON Missense_P3272L exm1761510 1 215972394 [T/C] NM_206933 USH2A EXON Missense_M3271I rs6540911 1 215974257 [T/C] NM_206933 USH2A Silent rs4405115 1 215979386 [T/C] NM_206933 USH2A Silent exm148995 1 215987194 [T/G] NM_206933 USH2A EXON Missense_E3208A exm148997 1 215987222 [T/C] NM_206933 USH2A EXON Missense_N3199D rs6540912 1 215989973 [T/G] NM_206933 USH2A Silent variant.9990 1 215990338 [T/C] NM_206933 USH2A Silent variant.9991 1 215990440 [A/G] NM_206933 USH2A EXON Nonsense_Q3157X exm149015 1 215990479 [T/C] NM_206933 USH2A EXON Missense_D3144N exm2232467 1 215990508 [T/C] NM_206933 USH2A EXON Missense_R3134Q rs7536020 1 216003557 [A/G] NM_206933 USH2A Silent exm149020 1 216011348 [T/C] NM_206933 USH2A EXON Missense_R3119H exm149022 1 216011361 [T/C] NM_206933 USH2A EXON Missense_T3115A exm1761523 1 216011364 [A/G] NM_206933 USH2A EXON Missense_P3114S exm149025 1 216011397 [T/C] NM_206933 USH2A EXON Missense_I3103V exm149026 1 216011408 [T/C] NM_206933 USH2A EXON Missense_N3099S exm149028 1 216011418 [T/C] NM_206933 USH2A EXON Missense_V3096M exm149030 1 216011442 [T/C] NM_206933 USH2A EXON Missense_E3088K exm149033 1 216017691 [A/G] NM_206933 USH2A EXON Missense_V3068A exm149038 1 216019184 [T/C] NM_206933 USH2A EXON Missense_A3013T exm149041 1 216019213 [A/G] NM_206933 USH2A EXON Missense_V3003A newrs146401999 1 216019240 [T/C] NM_206933 USH2A EXON Nonsense_W2994X rs2365629 1 216027887 [A/G] NM_206933 USH2A Silent rs970464 1 216035149 [A/G] NM_206933 USH2A Silent rs1028796 1 216036382 [A/G] NM_206933 USH2A Silent exm149051 1 216040405 [T/C] NM_206933 USH2A EXON Missense_N2930S rs9804120 1 216042210 [T/C] NM_206933 USH2A Silent rs11120682 1 216047519 [A/G] NM_206933 USH2A Silent rs11120686 1 216050785 [T/C] NM_206933 USH2A Silent exm149058 1 216051125 [A/G] NM_206933 USH2A EXON Missense_L2886F variant.9994 1 216051154 [T/C] NM_206933 USH2A EXON Nonsense_W2876X exm149062 1 216051157 [T/C] NM_206933 USH2A EXON Missense_R2875Q exm149063 1 216051172 [A/G] NM_206933 USH2A EXON Missense_P2870L exm149064 1 216051181 [A/G] NM_206933 USH2A EXON Missense_S2867L exm149067 1 216051206 [A/G] NM_206933 USH2A EXON Missense_R2859C variant.9995 1 216051224 [T/C] NM_206933 USH2A Silent variant.9996 1 216052105 [T/C] NM_206933 USH2A Silent exm149070 1 216052307 [A/G] NM_206933 USH2A EXON Missense_F2786S exm1761557 1 216052322 [A/G] NM_206933 USH2A EXON Missense_T2781I exm149071 1 216052344 [T/C] NM_206933 USH2A EXON Missense_A2774T exm149073 1 216052349 [A/G] NM_206933 USH2A EXON Missense_T2772I rs7544464 1 216054086 [T/C] NM_206933 USH2A Silent rs7516705 1 216055286 [T/C] NM_206933 USH2A Silent exm149088 1 216062273 [T/C] NM_206933 USH2A EXON Missense_R2573H exm149090 1 216062306 [A/G] NM_206933 USH2A EXON Missense_V2562A exm149094 1 216062396 [T/G] NM_206933 USH2A EXON Missense_K2532T rs17025561 1 216064898 [A/G] NM_206933 USH2A Silent rs1981227 1 216066437 [A/C] NM_206933 USH2A Silent rs6540916 1 216069531 [T/C] NM_206933 USH2A Silent indel.9998 1 216073415 [I/D] NM_206933 USH2A exm149100 1 216073470 [T/C] NM_206933 USH2A EXON Missense_N2514S rs12046356 1 216076167 [T/C] NM_206933 USH2A Silent rs4564111 1 216076263 [A/G] NM_206933 USH2A Silent rs7519354 1 216096735 [A/C] NM_206933 USH2A Silent rs927744 1 216096763 [T/C] NM_206933 USH2A Silent exm149133 1 216108098 [A/G] NM_206933 USH2A EXON Missense_M2387T exm149134 1 216108128 [T/C] NM_206933 USH2A EXON Missense_N2377S rs492474 1 216112208 [T/G] NM_206933 USH2A Silent rs531780 1 216117840 [T/C] NM_206933 USH2A Silent rs12410350 1 216132878 [A/G] NM_206933 USH2A Silent rs6540923 1 216134295 [A/G] NM_206933 USH2A Silent rs3845529 1 216136620 [T/G] NM_206933 USH2A Silent exm1761614 1 216138711 [A/C] NM_206933 USH2A EXON Missense_N2356K exm149137 1 216138718 [T/C] NM_206933 USH2A EXON Missense_R2354H exm149138 1 216138719 [A/G] NM_206933 USH2A EXON Missense_R2354C exm149146 1 216138781 [A/G] NM_206933 USH2A EXON Missense_V2333A exm149147 1 216138790 [T/C] NM_206933 USH2A EXON Missense_E2330G rs479826 1 216143270 [A/G] NM_206933 USH2A Silent exm149149 1 216143987 [A/C] NM_206933 USH2A EXON Missense_G2313C exm149151 1 216143995 [A/G] NM_206933 USH2A EXON Missense_T2310M exm149155 1 216144049 [T/C] NM_206933 USH2A EXON Missense_R2292H rs2813727 1 216154283 [T/C] NM_206933 USH2A Silent exm149161 1 216166454 [T/G] NM_206933 USH2A EXON Missense_E2238A exm1761622 1 216166484 [A/T] NM_206933 USH2A EXON Missense_V2228E exm149164 1 216166497 [A/C] NM_206933 USH2A EXON Missense_G2224C exm149165 1 216172258 [G/C] NM_206933 USH2A EXON Missense_P2210A exm149168 1 216172296 [A/G] NM_206933 USH2A EXON Missense_T2197I exm149169 1 216172299 [C/G] NM_206933 USH2A EXON Missense_S2196T exm149177 1 216172380 [A/G] NM_206933 USH2A EXON Missense_I2169T rs10864219 1 216172380 [A/G] NM_206933 USH2A EXON Missense_I2169T variant.10003 1 216173745 [T/C] NM_206933 USH2A EXON Missense_Q2162R exm149185 1 216173866 [A/C] NM_206933 USH2A EXON Missense_A2122S rs4350180 1 216178658 [A/G] NM_206933 USH2A Silent rs4471233 1 216179808 [A/G] NM_206933 USH2A Silent rs7519838 1 216188600 [A/G] NM_206933 USH2A Silent rs10779662 1 216188698 [T/G] NM_206933 USH2A Silent exm2263850 1 216193693 [A/C] NM_206933 USH2A Silent rs2317936 1 216194948 [A/C] NM_206933 USH2A Silent rs12121718 1 216205110 [T/C] NM_206933 USH2A Silent rs11120726 1 216215741 [A/C] NM_206933 USH2A Silent exm149187 1 216219781 [A/G] NM_206933 USH2A EXON Missense_I2106T exm149191 1 216219841 [T/G] NM_206933 USH2A EXON Missense_T2086N exm149192 1 216219858 [A/C] NM_206933 USH2A EXON Missense_K2080N exm149193 1 216219862 [T/G] NM_206933 USH2A EXON Missense_K2079T var_1_216219874 1 216219874 [T/C] NM_206933 USH2A EXON Nonsense_W2075X variant.10005 1 216221876 [T/C] NM_206933 USH2A EXON Missense_A2055T exm149195 1 216221905 [T/C] NM_206933 USH2A EXON Missense_H2045R exm149198 1 216221959 [T/G] NM_206933 USH2A EXON Missense_N2027T exm149199 1 216221962 [T/C] NM_206933 USH2A EXON Missense_K2026R rs1436776 1 216235074 [T/C] NM_206933 USH2A Silent rs6419476 1 216236311 [T/C] NM_206933 USH2A Silent exm149202 1 216243451 [T/G] NM_206933 USH2A EXON Missense_N2014T exm149207 1 216243491 [A/G] NM_206933 USH2A EXON Missense_R2001C exm149208 1 216243499 [T/C] NM_206933 USH2A EXON Missense_R1998H exm149210 1 216243512 [T/C] NM_206933 USH2A EXON Missense_E1994K exm149215 1 216243560 [A/G] NM_206933 USH2A EXON Missense_P1978S exm149217 1 216243602 [A/G] NM_206933 USH2A EXON Missense_R1964C indel.10006 1 216243615 [I/D] NM_206933 USH2A EXON exm149220 1 216243634 [C/G] NM_206933 USH2A EXON Missense_A1953G variant.10007 1 216246437 [A/G] NM_206933,NR_125992,NR_125993 USH2A,LOC102723833,LOC102723833 Silent,Silent,Silent exm149234 1 216246591 [T/C] NM_206933,NR_125992,NR_125993 USH2A,LOC102723833,LOC102723833 EXON Missense_N1875S,Silent,Silent exm149235 1 216246595 [A/C] NM_206933,NR_125992,NR_125993 USH2A,LOC102723833,LOC102723833 EXON Missense_V1874F,Silent,Silent exm149238 1 216246603 [T/C] NM_206933,NR_125992,NR_125993 USH2A,LOC102723833,LOC102723833 EXON Missense_G1871D,Silent,Silent exm149240 1 216246606 [T/C] NM_206933,NR_125992,NR_125993 USH2A,LOC102723833,LOC102723833 EXON Missense_R1870Q,Silent,Silent exm149241 1 216246607 [A/G] NM_206933,NR_125992,NR_125993 USH2A,LOC102723833,LOC102723833 EXON Missense_R1870W,Silent,Silent exm2250742 1 216251594 [C/G] NM_206933,NR_125992,NR_125993 USH2A,LOC102723833,LOC102723833 EXON Synonymous_V1803V,Silent,Silent exm149248 1 216251594 [C/G] NM_206933,NR_125992,NR_125993 USH2A,LOC102723833,LOC102723833 EXON Synonymous_V1803V,Silent,Silent variant.10008 1 216251674 [A/G] NM_206933,NR_125992,NR_125993 USH2A,LOC102723833,LOC102723833 EXON Missense_R1777W,Silent,Silent exm149265 1 216258168 [T/C] NM_206933,NR_125992,NR_125993 USH2A,LOC102723833,LOC102723833 EXON Missense_K1680R,Silent,Silent exm149267 1 216258213 [A/G] NM_206933,NR_125992,NR_125993 USH2A,LOC102723833,LOC102723833 EXON Missense_I1665T,Silent,Silent newrs143521854 1 216258221 [T/C] NM_206933,NR_125992,NR_125993 USH2A,LOC102723833,LOC102723833 Silent,Silent,Silent newrs150896588 1 216262354 [T/C] NM_206933 USH2A Silent exm149274 1 216262444 [T/C] NM_206933 USH2A EXON Missense_G1599D rs1544299 1 216264388 [A/C] NM_206933 USH2A Silent rs17026081 1 216269176 [T/C] NM_206933 USH2A Silent exm149275 1 216270469 [A/G] NM_206933 USH2A EXON Missense_L1572F exm149281 1 216270537 [T/C] NM_206933 USH2A EXON Missense_R1549Q rs12093003 1 216271112 [T/C] NM_206933 USH2A Silent rs12123638 1 216277327 [T/C] NM_206933 USH2A Silent rs11120735 1 216281673 [A/C] NM_206933 USH2A Silent rs10864233 1 216295188 [T/C] NM_206933 USH2A Silent rs301736 1 216305479 [T/C] NM_206933 USH2A Silent rs448588 1 216313208 [A/G] NM_206933 USH2A Silent rs301759 1 216337447 [A/G] NM_206933 USH2A Silent rs439940 1 216347556 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Silent,Silent variant.10012 1 216348677 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_T1515M,Missense_T1515M exm149291 1 216348678 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_T1515A,Missense_T1515A exm149292 1 216348689 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_A1511V,Missense_A1511V exm149293 1 216348764 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_R1486K,Missense_R1486K variant.10013 1 216348825 [T/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent exm149314 1 216370040 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_S1369L,Missense_S1369L variant.10015 1 216370065 [T/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent exm149324 1 216371797 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_E1314G,Missense_E1314G newrs111033524 1 216371836 [A/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_G1301V,Missense_G1301V exm149340 1 216373199 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_P1194L,Missense_P1194L exm149351 1 216373385 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_G1132D,Missense_G1132D exm149354 1 216373416 [A/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_S1122A,Missense_S1122A exm149357 1 216373460 [A/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_I1107S,Missense_I1107S exm149361 1 216380705 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_P1076S,Missense_P1076S rs1324330 1 216390694 [T/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent exm149365 1 216390763 [T/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_H1041Q,Missense_H1041Q exm149367 1 216390860 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_A1009V,Missense_A1009V rs619803 1 216408083 [T/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent rs696720 1 216417771 [T/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent exm149374 1 216419934 [A/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_C934W,Missense_C934W exm149376 1 216419959 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_R926H,Missense_R926H exm149379 1 216420103 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_R878H,Missense_R878H exm149381 1 216420190 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_C849Y,Missense_C849Y exm149382 1 216420214 [T/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_S841Y,Missense_S841Y exm149384 1 216420226 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_R837Q,Missense_R837Q exm149387 1 216420277 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_N820S,Missense_N820S 1KG_1_216420289 1 216420289 [D/I] NM_206933,NM_007123 USH2A,USH2A EXON 1KG_1_216420436 1 216420437 [D/I] NM_206933,NM_007123 USH2A,USH2A EXON exm149394 1 216420460 [A/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_C759F,Missense_C759F exm149399 1 216424275 [G/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_G713R,Missense_G713R newrs137954284 1 216424331 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_C694Y,Missense_C694Y newrs111033248 1 216424360 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Synonymous_Q684Q,Synonymous_Q684Q variant.10028 1 216424441 [T/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent rs386654 1 216431962 [A/G] NM_206933,NM_007123 USH2A,USH2A Silent,Silent rs12134474 1 216446653 [A/G] NM_206933,NM_007123 USH2A,USH2A Silent,Silent rs1159143 1 216454483 [T/G] NM_206933,NM_007123 USH2A,USH2A Silent,Silent rs1512581 1 216455107 [T/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent exm149412 1 216462627 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_D656N,Missense_D656N exm149413 1 216462662 [A/T] NM_206933,NM_007123 USH2A,USH2A EXON Missense_D644V,Missense_D644V exm149414 1 216462690 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_I635V,Missense_I635V exm149426 1 216465694 [C/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_L555V,Missense_L555V rs17042212 1 216473745 [A/G] NM_206933,NM_007123 USH2A,USH2A Silent,Silent rs1398382 1 216475249 [T/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent exm1761714 1 216496849 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_Y506C,Missense_Y506C exm149440 1 216496880 [T/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_T496P,Missense_T496P exm149442 1 216496918 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_T483M,Missense_T483M exm149445 1 216496932 [C/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_E478D,Missense_E478D rs1805050 1 216496947 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Synonymous_T473T,Synonymous_T473T exm149454 1 216497654 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_T395M,Missense_T395M variant.10032 1 216498754 [T/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_N346H,Missense_N346H variant.10034 1 216498882 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_R303H,Missense_R303H rs12078537 1 216517635 [A/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent rs1588657 1 216537936 [A/G] NM_206933,NM_007123 USH2A,USH2A Silent,Silent exm149470 1 216538391 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_V230M,Missense_V230M rs2669053 1 216552091 [T/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent rs4531347 1 216571742 [A/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent exm149480 1 216595201 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_G160S,Missense_G160S exm149487 1 216595306 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_A125T,Missense_A125T rs10779261 1 216595306 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_A125T,Missense_A125T rs12723493 1 216605071 [A/C] rs11117581 1 216613761 [T/C] rs4240918 1 216630596 [A/G] rs10495024 1 216632948 [T/C] rs12142867 1 216638249 [A/G] rs4256876 1 216650304 [T/C] rs6691953 1 216655122 [A/G] exm2259998 1 216655251 [A/C] rs7554439 1 216655699 [T/C] rs4348785 1 216657848 [A/G] rs12031665 1 216665455 [A/G] rs6666194 1 216672805 [A/G] exm149515 1 216680496 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG EXON Missense_V203I,Missense_V365I,Missense_V365I,Missense_V365I,Missense_V365I,Missense_V400I,Missense_V365I,Missense_V365I,Missense_V388I,Missense_V365I,Missense_V326I,Missense_V365I,Missense_V365I,Missense_V365I,Missense_V365I,Missense_V365I,Missense_V365I,Missense_V137I,Missense_V365I,Missense_V365I rs9803970 1 216688839 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6604627 1 216691305 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10779265 1 216692002 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6696225 1 216705965 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6604631 1 216707519 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2377098 1 216715514 [T/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs12757165 1 216716537 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1846224 1 216724215 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17042811 1 216725118 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10442688 1 216726333 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7520795 1 216732718 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm149531 1 216737674 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG EXON Missense_Y65C,Missense_Y227C,Missense_Y227C,Missense_Y227C,Missense_Y227C,Missense_Y262C,Missense_Y227C,Missense_Y227C,Missense_Y250C,Missense_Y227C,Missense_Y188C,Missense_Y227C,Missense_Y227C,Missense_Y227C,Missense_Y227C,Missense_Y227C,Missense_Y227C,Silent,Missense_Y227C,Missense_Y227C exm149534 1 216741330 [T/A] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG EXON Missense_Y49N,Missense_Y211N,Missense_Y211N,Missense_Y211N,Missense_Y211N,Missense_L239M,Missense_Y211N,Missense_Y211N,Missense_Y234N,Missense_Y211N,Missense_Y172N,Missense_Y211N,Missense_Y211N,Missense_Y211N,Missense_Y211N,Missense_Y211N,Missense_Y211N,Silent,Missense_Y211N,Missense_Y211N rs11117625 1 216743264 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6701062 1 216755753 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2201838 1 216770716 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1833039 1 216771649 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7544758 1 216777687 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1826977 1 216783528 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10863259 1 216787169 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11572727 1 216787802 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1857407 1 216791605 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11577585 1 216795695 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1414529 1 216798806 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1414530 1 216798830 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4846617 1 216822615 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm149546 1 216824430 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG EXON Silent,Synonymous_G135G,Synonymous_G135G,Synonymous_G135G,Synonymous_G135G,Synonymous_G163G,Synonymous_G135G,Synonymous_G135G,Synonymous_G158G,Synonymous_G135G,Silent,Synonymous_G135G,Synonymous_G135G,Synonymous_G135G,Synonymous_G135G,Synonymous_G135G,Synonymous_G135G,Silent,Synonymous_G135G,Synonymous_G135G rs946468 1 216836576 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs946465 1 216840371 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2133123 1 216844817 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12121367 1 216848771 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1761776 1 216850733 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG EXON Silent,Missense_V30I,Missense_V30I,Missense_V30I,Missense_V30I,Missense_V58I,Missense_V30I,Missense_V30I,Missense_V53I,Missense_V30I,Missense_V30I,Missense_V30I,Missense_V30I,Missense_V30I,Missense_V30I,Missense_V30I,Missense_V30I,Silent,Missense_V30I,Missense_V30I rs12754372 1 216853179 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11580756 1 216854148 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2250745 1 216856115 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4085154 1 216858013 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2211118 1 216864218 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11117663 1 216872201 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2820883 1 216872461 [A/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2066108 1 216877492 [A/C] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11572672 1 216880662 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_001243519,NM_206594,NM_001243518,NM_001243514,NM_206595,NM_001438,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243515,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2820878 1 216900811 [T/G] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_001243514,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2813703 1 216913261 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_001243514,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1339352 1 216915514 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_001243514,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2820875 1 216920286 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_001243514,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11572654 1 216922557 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_001243514,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6693633 1 216938541 [A/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_001243514,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs946470 1 216945100 [T/G] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_001243514,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9970445 1 216950504 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_001243514,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11572621 1 216950896 [A/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_001243514,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6702277 1 216956685 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_001243514,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10218498 1 216965834 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_001243514,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7355008 1 216966601 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_001243514,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2789726 1 216973196 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_001243514,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2813663 1 216974886 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_001243514,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12760372 1 216983034 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2576234 1 216987005 [T/G] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2032028 1 216994412 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1436897 1 217005202 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1561186 1 217007348 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7537081 1 217008849 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7548403 1 217009130 [A/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2576258 1 217016670 [A/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1156007 1 217020295 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12086903 1 217020992 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs1436900 1 217058479 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1370150 1 217059640 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4436447 1 217070040 [A/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2818745 1 217076832 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1025653 1 217081526 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1436879 1 217082385 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4147268 1 217084292 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2818747 1 217088584 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10779284 1 217092655 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6682369 1 217103658 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7551571 1 217108951 [A/G] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7417600 1 217112871 [T/C] NM_001243506,NM_001350122,NM_001243513,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243512,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11117734 1 217122449 [T/G] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10492958 1 217124015 [T/C] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2576225 1 217131973 [T/C] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17044788 1 217162443 [A/G] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3000609 1 217162879 [A/G] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs5017053 1 217167698 [A/G] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10863285 1 217174168 [T/G] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2789567 1 217177525 [T/C] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1339222 1 217180260 [A/G] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2789573 1 217183535 [T/C] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs946438 1 217184643 [A/G] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1890554 1 217190815 [T/G] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11117750 1 217192021 [T/C] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11572427 1 217199613 [A/G] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7527281 1 217203091 [A/C] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11117754 1 217206705 [T/G] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11807917 1 217217013 [A/G] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7513573 1 217222233 [A/C] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7532636 1 217228116 [A/G] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6680670 1 217230015 [T/C] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6684903 1 217235542 [A/G] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2225967 1 217237052 [T/C] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4537652 1 217238186 [T/C] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4846809 1 217240584 [T/G] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4846400 1 217245278 [T/C] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001350125,NM_001243507,NM_001134285,NM_001243511,NM_001350123,NM_001243509,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1553347 1 217252549 [A/G] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001134285,NM_001243511,NM_001350123,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7539648 1 217255780 [A/G] NM_001243506,NM_001350122,NM_206594,NM_206595,NM_001134285,NM_001243511,NM_001350123,NM_001243505,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs946436 1 217265865 [T/C] NM_001134285,NM_001243511,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent rs1502357 1 217266496 [T/C] NM_001134285,NM_001243511,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent rs7514298 1 217272170 [T/G] NM_001134285,NM_001243511,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent rs6604654 1 217279717 [T/C] NM_001134285,NM_001243511,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent rs12040162 1 217293917 [A/G] NM_001134285,NM_001243511,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent rs10495041 1 217298122 [A/C] NM_001134285,NM_001243511,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent rs830321 1 217302383 [A/G] NM_001134285,NM_001243511,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent rs830322 1 217302743 [T/C] NM_001134285,NM_001243511,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent exm2268830 1 217308047 [T/C] NM_001134285,NM_001243511,NM_001243510,NM_001350124 ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent rs12732971 1 217333272 [A/G] rs11117781 1 217334839 [A/G] rs1502352 1 217337735 [A/G] rs1354220 1 217342298 [T/C] rs11117784 1 217351406 [T/C] rs1892259 1 217352068 [T/C] rs11117794 1 217359519 [A/G] rs12143637 1 217362297 [T/C] rs6669865 1 217365587 [T/G] rs6703829 1 217365991 [T/G] rs1910147 1 217375824 [T/C] rs1000796 1 217402330 [A/G] rs11117815 1 217403176 [T/G] rs4332417 1 217406858 [T/C] rs4846824 1 217414922 [T/G] rs4388759 1 217421644 [A/C] rs3923328 1 217424810 [T/C] rs10495049 1 217429135 [T/C] exm-rs10495049 1 217429135 [T/C] rs4146799 1 217435636 [A/G] rs7541546 1 217438561 [T/C] rs11589117 1 217445254 [A/G] rs7518401 1 217450293 [A/C] rs7535028 1 217456447 [T/G] rs2030018 1 217464290 [T/G] rs2815258 1 217465141 [A/G] rs2377567 1 217466024 [A/C] rs12758898 1 217471995 [T/C] rs2646811 1 217476282 [T/C] rs7520619 1 217477458 [A/G] rs11117853 1 217487940 [T/C] rs2088457 1 217488788 [A/G] rs2060 1 217494099 [A/G] rs2815217 1 217500820 [T/G] rs2646852 1 217507258 [T/C] rs964347 1 217511930 [A/G] exm2260001 1 217511930 [A/G] exm-rs1497828 1 217527024 [G/C] rs2815231 1 217538165 [T/G] rs2646828 1 217542361 [T/C] rs2810777 1 217559619 [T/G] rs11801512 1 217570487 [A/G] rs6660072 1 217575240 [T/C] rs2815251 1 217583807 [A/G] rs561609 1 217589894 [A/G] rs629840 1 217592010 [T/C] rs12127692 1 217595347 [T/C] rs1048126 1 217603847 [T/C] NM_018040 GPATCH2 EXON Silent rs166449 1 217604124 [T/C] NM_018040 GPATCH2 EXON Silent exm149571 1 217604492 [T/C] NM_018040 GPATCH2 EXON Missense_A528T exm149573 1 217604506 [T/C] NM_018040 GPATCH2 EXON Missense_N523S exm149574 1 217604522 [T/C] NM_018040 GPATCH2 EXON Missense_A518T exm149578 1 217604632 [A/G] NM_018040 GPATCH2 EXON Missense_T481M exm149579 1 217604654 [T/C] NM_018040 GPATCH2 EXON Missense_M474V rs7520483 1 217604777 [A/G] NM_018040 GPATCH2 Silent rs265125 1 217620430 [A/G] NM_018040 GPATCH2 Silent exm149584 1 217622647 [A/G] NM_018040 GPATCH2 EXON Missense_T437M rs13375527 1 217658496 [A/C] NM_018040 GPATCH2 Silent exm149588 1 217665070 [T/C] NM_018040 GPATCH2 EXON Missense_R410Q variant.10038 1 217665071 [A/G] NM_018040 GPATCH2 EXON Nonsense_R410X newrs148242273 1 217671697 [A/C] NM_018040 GPATCH2 Silent rs4846415 1 217680035 [T/C] NM_018040 GPATCH2 Silent rs1930301 1 217704670 [A/G] NM_018040 GPATCH2 Silent rs4846419 1 217715564 [A/G] NM_018040 GPATCH2 Silent rs10495060 1 217727217 [T/C] NM_018040 GPATCH2 Silent rs17046602 1 217734609 [T/C] NM_018040 GPATCH2 Silent rs12097653 1 217753698 [T/C] NM_018040 GPATCH2 Silent rs4846244 1 217756963 [A/G] NM_018040 GPATCH2 Silent rs11583496 1 217762620 [T/C] NM_018040 GPATCH2 Silent rs11117891 1 217767109 [T/C] NM_018040 GPATCH2 Silent rs11117895 1 217772539 [A/C] NM_018040 GPATCH2 Silent rs11117896 1 217780472 [A/G] NM_018040 GPATCH2 Silent rs12749938 1 217783810 [T/C] NM_018040,NM_001297754 GPATCH2,GPATCH2 Silent,Silent exm149598 1 217784318 [T/C] NM_018040,NM_001297754 GPATCH2,GPATCH2 EXON Missense_T311A,Missense_T311A exm2273746 1 217784321 [T/G] NM_018040,NM_001297754 GPATCH2,GPATCH2 EXON Missense_P310T,Missense_P310T variant.10040 1 217787486 [A/G] NM_018040,NM_001297754 GPATCH2,GPATCH2 EXON Nonsense_Q278X,Nonsense_Q278X exm149605 1 217793129 [T/C] NM_018040,NM_001297754 GPATCH2,GPATCH2 EXON Missense_E257K,Missense_E257K exm149608 1 217793225 [T/C] NM_018040,NM_001297754 GPATCH2,GPATCH2 EXON Missense_D225N,Missense_D225N exm149611 1 217793375 [A/T] NM_018040,NM_001297754 GPATCH2,GPATCH2 EXON Missense_I175F,Missense_I175F exm149615 1 217793434 [T/G] NM_018040,NM_001297754 GPATCH2,GPATCH2 EXON Missense_N155T,Missense_N155T exm149618 1 217793494 [T/C] NM_018040,NM_001297754 GPATCH2,GPATCH2 EXON Missense_N135S,Missense_N135S exm149623 1 217793651 [C/G] NM_018040,NM_001297754 GPATCH2,GPATCH2 EXON Missense_E83Q,Missense_E83Q rs12124165 1 217796299 [A/G] NM_018040,NM_001297754 GPATCH2,GPATCH2 Silent,Silent exm149634 1 217804722 [T/C] NM_138796 SPATA17 EXON Missense_M1T exm149635 1 217804724 [A/G] NM_138796 SPATA17 EXON Missense_A2T exm149636 1 217804761 [T/C] NM_138796 SPATA17 EXON Missense_V14A exm149637 1 217804767 [A/G] NM_138796 SPATA17 EXON Missense_N16S variant.10043 1 217804793 [A/G] NM_138796 SPATA17 Silent exm149641 1 217822294 [G/C] NM_138796 SPATA17 EXON Missense_Q47E rs10863333 1 217830178 [A/G] NM_138796 SPATA17 Silent rs10863335 1 217842887 [A/G] NM_138796 SPATA17 Silent exm149658 1 217856610 [A/G] NM_138796 SPATA17 EXON Missense_R101Q exm149660 1 217856622 [A/G] NM_138796 SPATA17 EXON Missense_Y105C rs17725494 1 217889346 [A/G] NM_138796 SPATA17 Silent rs12060712 1 217894091 [A/G] NM_138796 SPATA17 Silent rs12120516 1 217914116 [T/C] NM_138796 SPATA17 Silent exm149668 1 217915416 [A/G] NM_138796 SPATA17 EXON Missense_M165I rs10863340 1 217922972 [T/C] NM_138796 SPATA17 Silent rs11117926 1 217931977 [A/G] NM_138796 SPATA17 Silent rs7548446 1 217933228 [A/G] NM_138796 SPATA17 Silent rs6604561 1 217947738 [A/G] NM_138796 SPATA17 EXON Synonymous_Q194Q exm149683 1 217947826 [T/C] NM_138796 SPATA17 EXON Missense_R224C exm149686 1 217947856 [T/C] NM_138796 SPATA17 EXON Missense_P234S rs17726462 1 217951156 [A/G] NM_138796 SPATA17 Silent rs4846440 1 217954378 [A/G] NM_138796 SPATA17 Silent exm149694 1 217955552 [T/C] NM_138796,NR_125784 SPATA17,SPATA17-AS1 EXON Missense_R254C,Silent exm149695 1 217955553 [A/G] NM_138796,NR_125784 SPATA17,SPATA17-AS1 EXON Missense_R254H,Silent exm149697 1 217955574 [T/C] NM_138796,NR_125784 SPATA17,SPATA17-AS1 EXON Missense_T261M,Silent exm2268831 1 217971980 [T/C] NM_138796 SPATA17 Silent exm149703 1 217975185 [A/G] NM_138796 SPATA17 EXON Missense_C333Y rs11117944 1 218000520 [T/C] NM_138796 SPATA17 Silent rs11117946 1 218003361 [A/C] NM_138796 SPATA17 Silent rs12040010 1 218006850 [A/C] NM_138796 SPATA17 Silent rs4846443 1 218008002 [A/G] NM_138796 SPATA17 Silent rs6674883 1 218008788 [A/G] NM_138796 SPATA17 Silent rs10495081 1 218010172 [T/C] NM_138796 SPATA17 Silent rs1567449 1 218018956 [T/C] NM_138796 SPATA17 Silent rs1567448 1 218019292 [A/G] NM_138796 SPATA17 Silent rs10863350 1 218030584 [T/G] NM_138796 SPATA17 Silent variant.10050 1 218036114 [A/G] NM_138796 SPATA17 Silent rs12405333 1 218044052 [A/G] rs4846248 1 218047636 [A/G] rs17046947 1 218048319 [T/C] rs872171 1 218058946 [A/G] rs7538903 1 218068893 [A/C] NR_048550 LINC00210 Silent rs12744967 1 218084087 [A/G] NR_048550 LINC00210 Silent rs871379 1 218084991 [T/C] NR_048550 LINC00210 Silent rs6604568 1 218094151 [A/G] rs1397178 1 218099577 [T/C] rs966209 1 218108088 [T/C] rs966208 1 218108164 [A/C] rs12404476 1 218111556 [A/G] rs4846249 1 218127794 [T/C] rs12031059 1 218129861 [T/G] rs1832544 1 218133537 [A/G] rs4428953 1 218139006 [A/G] rs4475815 1 218146855 [A/G] rs7546902 1 218147297 [T/C] rs4846453 1 218148677 [A/G] rs7520319 1 218149826 [A/G] rs1889607 1 218155651 [A/G] rs12401951 1 218162375 [T/C] rs7537966 1 218162453 [A/G] rs4282881 1 218188851 [T/C] rs7512034 1 218198668 [A/G] rs12142065 1 218201025 [T/C] rs6604578 1 218201594 [T/C] rs11118016 1 218204695 [A/G] rs6661310 1 218208472 [A/G] rs17693785 1 218214924 [A/G] rs992010 1 218224279 [A/G] NR_110794 LINC01653 Silent rs6697579 1 218238773 [T/C] rs17047306 1 218243697 [T/C] rs10863373 1 218251692 [T/G] rs2067836 1 218253106 [A/G] rs7539193 1 218259988 [T/C] rs877850 1 218261632 [A/G] rs12083333 1 218271784 [A/G] rs6699736 1 218272851 [A/G] rs4639829 1 218278650 [A/G] rs7547685 1 218282929 [A/C] rs1873326 1 218284056 [T/C] rs7527372 1 218287335 [A/C] rs580733 1 218292715 [A/C] rs12125587 1 218299276 [T/C] rs1029170 1 218300030 [T/C] rs575962 1 218304346 [T/G] rs17047450 1 218331878 [T/C] exm2260003 1 218333601 [T/C] rs683968 1 218333601 [T/C] rs511223 1 218333741 [T/C] rs621070 1 218337199 [A/G] rs1338451 1 218352449 [A/G] rs6694166 1 218353211 [T/C] rs7528076 1 218361784 [A/C] exm2250754 1 218370200 [T/C] rs1556836 1 218391681 [A/G] rs1416156 1 218397580 [A/G] rs12132163 1 218416654 [A/G] rs11118065 1 218417520 [A/G] rs12087406 1 218418911 [T/C] rs10863384 1 218428101 [A/C] rs1338445 1 218439928 [T/C] rs3753592 1 218458058 [T/C] rs2788193 1 218458227 [T/C] exm149712 1 218458672 [T/C] NM_016052 RRP15 EXON Missense_A5V exm149715 1 218458753 [T/C] NM_016052 RRP15 EXON Missense_A32V rs11118073 1 218475441 [T/G] NM_016052 RRP15 Silent exm149720 1 218475683 [A/G] NM_016052 RRP15 EXON Missense_I63V exm149725 1 218475847 [T/G] NM_016052 RRP15 EXON Missense_K117N var_1_218475902 1 218475902 [T/G] NM_016052 RRP15 Silent exm149731 1 218478370 [T/C] NM_016052 RRP15 EXON Missense_R136C exm149735 1 218478411 [C/G] NM_016052 RRP15 EXON Missense_K149N exm149736 1 218478430 [A/G] NM_016052 RRP15 EXON Missense_K156E exm149738 1 218480832 [T/C] NM_016052 RRP15 EXON Missense_V188A exm149744 1 218480958 [A/G] NM_016052 RRP15 EXON Missense_K230R exm1761935 1 218480973 [A/G] NM_016052 RRP15 EXON Missense_Q235R variant.10054 1 218504377 [T/G] NM_016052 RRP15 EXON Nonsense_E265X 1KG_1_218504399 1 218504399 [D/I] NM_016052 RRP15 EXON var_1_218504399 1 218504400 [D/I] NM_016052 RRP15 EXON exm149755 1 218520242 [A/G] NM_001135599,NR_138149,NR_138148,NM_003238 TGFB2,TGFB2,TGFB2,TGFB2 EXON Missense_V67M,Silent,Silent,Missense_V67M exm149758 1 218520315 [A/G] NM_001135599,NR_138149,NR_138148,NM_003238 TGFB2,TGFB2,TGFB2,TGFB2 EXON Missense_R91H,Silent,Silent,Missense_R91H rs1418555 1 218523650 [A/G] NM_001135599,NR_138149,NR_138148,NM_003238 TGFB2,TGFB2,TGFB2,TGFB2 Silent,Silent,Silent,Silent rs1417488 1 218523730 [T/C] NM_001135599,NR_138149,NR_138148,NM_003238 TGFB2,TGFB2,TGFB2,TGFB2 Silent,Silent,Silent,Silent rs17047707 1 218528087 [A/G] NM_001135599,NR_138149,NR_138148,NM_003238 TGFB2,TGFB2,TGFB2,TGFB2 Silent,Silent,Silent,Silent rs6662137 1 218542059 [T/G] NM_001135599,NR_138149,NR_138148,NM_003238 TGFB2,TGFB2,TGFB2,TGFB2 Silent,Silent,Silent,Silent rs2027566 1 218558327 [A/C] NM_001135599,NR_138149,NR_138148,NM_003238 TGFB2,TGFB2,TGFB2,TGFB2 Silent,Silent,Silent,Silent rs1539399 1 218565324 [A/G] NM_001135599,NR_138149,NR_138148,NM_003238 TGFB2,TGFB2,TGFB2,TGFB2 Silent,Silent,Silent,Silent rs1317681 1 218575202 [A/G] NM_001135599,NR_138149,NR_138148,NM_003238 TGFB2,TGFB2,TGFB2,TGFB2 Silent,Silent,Silent,Silent exm149764 1 218578520 [T/C] NM_001135599,NR_138149,NR_138148,NM_003238 TGFB2,TGFB2,TGFB2,TGFB2 EXON Missense_P147L,Silent,Silent,Missense_P119L rs2799083 1 218581617 [T/C] NM_001135599,NR_138149,NR_138148,NM_003238 TGFB2,TGFB2,TGFB2,TGFB2 Silent,Silent,Silent,Silent rs2000220 1 218587636 [A/G] NM_001135599,NR_138149,NR_138148,NM_003238 TGFB2,TGFB2,TGFB2,TGFB2 Silent,Silent,Silent,Silent rs6657275 1 218596461 [A/G] NM_001135599,NR_138149,NR_138148,NM_003238 TGFB2,TGFB2,TGFB2,TGFB2 Silent,Silent,Silent,Silent rs1342586 1 218597859 [T/C] NM_001135599,NR_138149,NR_138148,NM_003238 TGFB2,TGFB2,TGFB2,TGFB2 Silent,Silent,Silent,Silent exm149773 1 218607532 [G/C] NM_001135599,NR_138149,NR_138148,NM_003238 TGFB2,TGFB2,TGFB2,TGFB2 EXON Missense_V235L,Silent,Silent,Missense_V207L exm149783 1 218609380 [A/G] NM_001135599,NR_138149,NR_138148,NM_003238 TGFB2,TGFB2,TGFB2,TGFB2 EXON Missense_S303G,Silent,Silent,Missense_S275G rs1473526 1 218620747 [T/C] NR_031644 MIR548F3 Silent rs11118109 1 218632925 [T/G] NR_031644 MIR548F3 Silent rs7547759 1 218639589 [T/G] NR_031644 MIR548F3 Silent rs725033 1 218643940 [T/C] NR_031644 MIR548F3 Silent rs6604616 1 218646954 [T/C] NR_031644 MIR548F3 Silent rs3009935 1 218663189 [A/G] NR_031644 MIR548F3 Silent rs11118115 1 218683702 [A/G] NR_031644,NR_146760 MIR548F3,C1orf143 Silent,Silent rs3009947 1 218689155 [T/C] NR_031644,NR_146760 MIR548F3,C1orf143 Silent,Silent rs6665024 1 218690577 [A/G] NR_031644,NR_146760 MIR548F3,C1orf143 Silent,Silent rs2047163 1 218708603 [A/C] NR_031644 MIR548F3 Silent rs604045 1 218714208 [T/C] NR_031644 MIR548F3 Silent rs12038116 1 218719400 [A/G] NR_031644 MIR548F3 Silent rs11118129 1 218741263 [T/C] NR_031644 MIR548F3 Silent rs1481347 1 218766058 [A/G] NR_031644 MIR548F3 Silent rs17048282 1 218777698 [A/G] NR_031644 MIR548F3 Silent rs2965012 1 218786549 [A/C] NR_031644 MIR548F3 Silent rs3009943 1 218786572 [T/C] NR_031644 MIR548F3 Silent rs729283 1 218794670 [A/G] NR_031644 MIR548F3 Silent rs17048343 1 218811824 [A/G] NR_031644 MIR548F3 Silent rs11485142 1 218833214 [A/C] NR_031644 MIR548F3 Silent rs11583395 1 218841163 [A/G] NR_031644 MIR548F3 Silent rs11487802 1 218850711 [A/G] NR_031644 MIR548F3 Silent rs922715 1 218858100 [T/C] NR_031644 MIR548F3 Silent rs993925 1 218860068 [T/C] NR_031644 MIR548F3 Silent exm-rs993925 1 218860068 [T/C] NR_031644 MIR548F3 Silent rs1481354 1 218866367 [A/G] NR_031644 MIR548F3 Silent rs17048445 1 218891564 [T/C] NR_031644 MIR548F3 Silent rs1031961 1 218903928 [A/C] NR_031644 MIR548F3 Silent rs4372320 1 218906453 [T/C] NR_031644 MIR548F3 Silent rs1481356 1 218908668 [A/G] NR_031644 MIR548F3 Silent rs1351472 1 218912366 [T/C] NR_031644 MIR548F3 Silent rs1552122 1 218912421 [T/C] NR_031644 MIR548F3 Silent rs2378003 1 218920738 [A/G] NR_031644 MIR548F3 Silent rs7542694 1 218931976 [T/C] NR_031644 MIR548F3 Silent rs6692647 1 218932794 [A/C] NR_031644 MIR548F3 Silent rs6665999 1 218932807 [A/G] NR_031644 MIR548F3 Silent rs6541199 1 218938961 [T/C] NR_031644 MIR548F3 Silent rs6698925 1 218940225 [A/C] NR_031644 MIR548F3 Silent exm2264952 1 218950403 [A/G] NR_031644 MIR548F3 Silent rs6541210 1 218955436 [A/G] NR_031644 MIR548F3 Silent rs6655980 1 218960310 [A/G] NR_031644 MIR548F3 Silent rs11118155 1 218975899 [T/G] NR_031644 MIR548F3 Silent rs7415744 1 218982922 [T/C] NR_031644 MIR548F3 Silent rs17514738 1 218988754 [T/C] NR_031644 MIR548F3 Silent rs11118161 1 218999505 [A/G] NR_031644 MIR548F3 Silent rs6541234 1 219001663 [T/C] NR_031644 MIR548F3 Silent exm-rs2647116 1 219009835 [A/G] NR_031644 MIR548F3 Silent rs617385 1 219036330 [A/G] NR_031644 MIR548F3 Silent rs637991 1 219040605 [T/C] NR_031644 MIR548F3 Silent rs679831 1 219051378 [A/G] NR_031644 MIR548F3 Silent rs650681 1 219053292 [T/C] NR_031644 MIR548F3 Silent rs636764 1 219054054 [T/C] NR_031644 MIR548F3 Silent rs3897852 1 219062526 [A/G] NR_031644 MIR548F3 Silent rs1338458 1 219072415 [T/C] NR_031644 MIR548F3 Silent rs878394 1 219073958 [A/G] NR_031644 MIR548F3 Silent rs11118174 1 219085469 [A/G] NR_031644 MIR548F3 Silent rs7540766 1 219088165 [T/C] NR_031644,NR_146917 MIR548F3,LINC01710 Silent,Silent rs10495112 1 219088779 [T/C] NR_031644,NR_146917 MIR548F3,LINC01710 Silent,Silent rs7525547 1 219095423 [T/C] NR_031644 MIR548F3 Silent rs626518 1 219101848 [T/C] NR_031644 MIR548F3 Silent rs11118178 1 219104226 [T/C] NR_031644 MIR548F3 Silent exm2268975 1 219110621 [T/C] NR_031644 MIR548F3 Silent rs11118180 1 219117863 [A/C] NR_031644 MIR548F3 Silent rs662150 1 219138400 [T/C] NR_031644 MIR548F3 Silent rs601175 1 219141960 [T/C] NR_031644 MIR548F3 Silent rs629222 1 219143598 [T/G] NR_031644 MIR548F3 Silent rs6703753 1 219163360 [T/C] NR_031644 MIR548F3 Silent rs7540160 1 219176608 [A/G] NR_031644 MIR548F3 Silent rs17048992 1 219189306 [T/C] NR_031644 MIR548F3 Silent rs1256590 1 219191704 [A/G] NR_031644 MIR548F3 Silent rs1700853 1 219220558 [T/C] NR_031644 MIR548F3 Silent rs6690339 1 219221780 [T/C] NR_031644 MIR548F3 Silent rs17041707 1 219222948 [T/C] NR_031644 MIR548F3 Silent rs871107 1 219223317 [T/C] NR_031644 MIR548F3 Silent rs1256603 1 219240970 [A/G] NR_031644 MIR548F3 Silent rs12141207 1 219273881 [A/G] NR_031644,NR_038845 MIR548F3,LYPLAL1-DT Silent,Silent rs7545152 1 219298539 [A/G] NR_038845 LYPLAL1-DT Silent rs9308387 1 219337294 [T/C] NR_038845 LYPLAL1-DT Silent exm1762188 1 219347282 [T/C] NM_001300770,NM_001350628,NM_138794,NM_001300769,NM_001350629 LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1 EXON Missense_A17V,Missense_A17V,Missense_A17V,Missense_A17V,Missense_A17V indel.10058 1 219347298 [I/D] NM_001300770,NM_001350628,NM_138794,NM_001300769,NM_001350629 LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1 EXON exm149813 1 219347314 [T/C] NM_001300770,NM_001350628,NM_138794,NM_001300769,NM_001350629 LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1 EXON Missense_H28Y,Missense_H28Y,Missense_H28Y,Missense_H28Y,Missense_H28Y rs7536671 1 219350309 [T/C] NM_001300770,NM_001350628,NM_138794,NM_001300769,NM_001350629,NM_001300771,NM_001300772 LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1762202 1 219366463 [A/G] NM_001300770,NM_001350628,NM_138794,NM_001300769,NM_001350629,NM_001300771,NM_001300772 LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1 EXON Silent,Nonsense_W86X,Nonsense_W77X,Silent,Silent,Nonsense_W39X,Nonsense_W39X exm149821 1 219366546 [T/C] NM_001300770,NM_001350628,NM_138794,NM_001300769,NM_001350629,NM_001300771,NM_001300772 LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1 EXON Missense_I89T,Missense_I114T,Missense_I105T,Silent,Missense_I98T,Missense_I67T,Missense_I67T rs12402039 1 219374030 [A/G] NM_001300770,NM_001350628,NM_138794,NM_001300769,NM_001350629,NM_001300771,NM_001300772 LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6692892 1 219383192 [T/C] NM_001300770,NM_001350628,NM_138794,NM_001300769,NM_001350629,NM_001300771,NM_001300772 LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm149827 1 219383905 [A/G] NM_001300770,NM_001350628,NM_138794,NM_001300769,NM_001350629,NM_001300771,NM_001300772 LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1 EXON Missense_I115M,Missense_I140M,Missense_I131M,Missense_I80M,Missense_I124M,Missense_I93M,Missense_I93M exm149829 1 219383940 [A/G] NM_001300770,NM_001350628,NM_138794,NM_001300769,NM_001350629,NM_001300771,NM_001300772 LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1 EXON Missense_G127E,Missense_G152E,Missense_G143E,Missense_G92E,Missense_G136E,Missense_G105E,Missense_G105E newrs140122550 1 219384873 [T/C] NM_001300770,NM_001350628,NM_138794,NM_001300769,NM_001350629,NM_001300771,NM_001300772 LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1 EXON Nonsense_Q157X,Nonsense_Q182X,Nonsense_Q173X,Nonsense_Q122X,Nonsense_Q166X,Nonsense_Q135X,Nonsense_Q135X exm149838 1 219384945 [G/C] NM_001300770,NM_001350628,NM_138794,NM_001300769,NM_001350629,NM_001300771,NM_001300772 LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1,LYPLAL1 EXON Missense_L181V,Missense_L206V,Missense_L197V,Missense_L146V,Missense_L190V,Missense_L159V,Missense_L159V rs7544093 1 219398458 [A/G] rs11118250 1 219446253 [A/G] rs10863444 1 219464144 [T/C] exm2264953 1 219465410 [A/G] rs12080306 1 219466670 [A/C] rs12030447 1 219466796 [A/G] rs10158029 1 219482935 [T/C] rs4846547 1 219484416 [A/G] rs11118272 1 219490301 [T/C] rs12047338 1 219490672 [T/C] rs11118275 1 219497096 [T/C] rs13376087 1 219520895 [T/C] rs7553882 1 219539066 [T/C] rs6671991 1 219557811 [T/G] rs1340101 1 219565545 [T/G] rs10863457 1 219570103 [T/G] rs11118293 1 219577777 [T/C] rs2820461 1 219578414 [A/C] rs2791558 1 219583791 [T/C] rs12032159 1 219586415 [A/G] rs2820455 1 219596070 [T/C] rs2605087 1 219602093 [A/G] rs17005517 1 219604453 [A/C] rs2085261 1 219604950 [T/C] rs6669442 1 219622596 [A/G] NR_135822 LOC102723886 Silent rs2820437 1 219636951 [T/G] NR_135822 LOC102723886 Silent rs2605096 1 219641900 [A/G] NR_135822 LOC102723886 Silent rs2605097 1 219642109 [A/C] NR_135822 LOC102723886 Silent exm-rs2605100 1 219644224 [A/G] NR_135822 LOC102723886 Silent rs11804949 1 219648119 [A/G] NR_135822 LOC102723886 Silent rs12022722 1 219651133 [T/C] NR_135822 LOC102723886 Silent exm-rs2791552 1 219652033 [A/C] NR_135822 LOC102723886 Silent rs1563355 1 219653101 [T/C] NR_135822 LOC102723886 Silent rs11118316 1 219657163 [A/G] NR_135822 LOC102723886 Silent rs2820426 1 219660535 [A/G] NR_135822 LOC102723886 Silent rs1417066 1 219673828 [A/G] NR_135822 LOC102723886 Silent rs2820466 1 219675016 [A/G] NR_135822 LOC102723886 Silent rs2791553 1 219676042 [A/G] NR_135822 LOC102723886 Silent rs12031785 1 219686440 [T/C] NR_135822 LOC102723886 Silent exm-rs2785990 1 219687432 [T/C] NR_135822 LOC102723886 Silent rs11802602 1 219690937 [A/G] NR_135822 LOC102723886 Silent rs6696581 1 219697819 [T/C] NR_135822 LOC102723886 Silent rs6704014 1 219700334 [T/C] NR_135822 LOC102723886 Silent exm-rs2785980 1 219700519 [T/C] NR_135822 LOC102723886 Silent rs10746385 1 219706428 [T/C] NR_135822 LOC102723886 Silent rs2820449 1 219714999 [A/G] NR_135822 LOC102723886 Silent rs3001032 1 219727779 [T/C] NR_135822 LOC102723886 Silent rs11118343 1 219739907 [T/G] rs1415289 1 219742768 [A/G] exm-rs11118346 1 219743719 [T/C] rs2785991 1 219748779 [A/G] exm-rs4846567 1 219750717 [T/G] rs17006168 1 219759378 [A/C] rs3897377 1 219760467 [T/C] rs2494196 1 219762581 [A/C] rs11118356 1 219777110 [T/C] rs10779363 1 219786890 [T/C] rs11118371 1 219812901 [T/C] rs17006225 1 219822453 [T/C] rs2378282 1 219825766 [A/G] rs945717 1 219838104 [A/G] rs11118383 1 219844192 [T/C] rs1415998 1 219848628 [A/C] rs1538027 1 219859158 [T/G] rs12096993 1 219865236 [T/C] rs17006346 1 219867194 [T/G] rs12059053 1 219867786 [T/C] rs10779377 1 219881894 [T/C] rs4532841 1 219890503 [T/C] rs10157552 1 219911743 [A/C] rs2797548 1 219923989 [T/G] rs12035718 1 219926135 [A/G] rs17006538 1 219926717 [T/C] rs4846586 1 219931448 [A/G] rs17006599 1 219936765 [A/G] rs1776059 1 219937300 [A/C] rs1766406 1 219937351 [T/C] rs12022944 1 219945686 [A/C] rs10779385 1 219967811 [A/G] rs4846603 1 219968010 [T/G] rs13375416 1 219968306 [T/C] rs12083182 1 219983092 [A/C] rs11118423 1 219984995 [T/C] rs6541105 1 220006085 [A/G] rs2008602 1 220032318 [A/G] rs12566233 1 220034533 [A/C] rs11118448 1 220052720 [A/G] NR_002753 RNU5F-1 Silent exm2260007 1 220052720 [A/G] NR_002753 RNU5F-1 Silent rs10399645 1 220053857 [T/C] NR_002753 RNU5F-1 Silent rs7514869 1 220056396 [A/G] NR_002753 RNU5F-1 Silent rs6694002 1 220076195 [T/C] NR_002753 RNU5F-1 Silent exm2268833 1 220077269 [T/C] NR_002753 RNU5F-1 Silent rs11118454 1 220077320 [A/G] NR_002753 RNU5F-1 Silent rs884127 1 220082150 [A/G] NR_002753 RNU5F-1 Silent rs2275707 1 220088047 [A/C] NR_002753,NM_018713,NR_046437 RNU5F-1,SLC30A10,SLC30A10 EXON Silent,Silent,Silent exm149851 1 220088801 [A/G] NR_002753,NM_018713,NR_046437 RNU5F-1,SLC30A10,SLC30A10 EXON Silent,Missense_T483M,Silent exm149865 1 220088956 [T/G] NR_002753,NM_018713,NR_046437 RNU5F-1,SLC30A10,SLC30A10 EXON Silent,Missense_H431Q,Silent exm149866 1 220088961 [T/C] NR_002753,NM_018713,NR_046437 RNU5F-1,SLC30A10,SLC30A10 EXON Silent,Missense_E430K,Silent variant.10062 1 220091597 [T/C] NR_002753,NM_018713,NR_046437 RNU5F-1,SLC30A10,SLC30A10 EXON Silent,Missense_M320V,Silent rs4846607 1 220093188 [A/G] NR_002753,NM_018713,NR_046437 RNU5F-1,SLC30A10,SLC30A10 Silent,Silent,Silent rs6700061 1 220098329 [T/C] NR_002753,NM_018713,NR_046437 RNU5F-1,SLC30A10,SLC30A10 Silent,Silent,Silent exm2273747 1 220100412 [T/C] NR_002753,NM_018713,NR_046437 RNU5F-1,SLC30A10,SLC30A10 EXON Silent,Missense_M226V,Silent rs1694585 1 220102792 [T/C] NR_002753 RNU5F-1 Silent rs950455 1 220108918 [A/G] NR_002753 RNU5F-1 Silent rs11118465 1 220119384 [A/C] NR_002753 RNU5F-1 Silent exm149901 1 220142246 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_I1481V exm149914 1 220146709 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_R1372H exm149924 1 220151999 [A/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_I1324M exm149934 1 220152863 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_Y1269C exm149935 1 220152884 [A/G] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_P1262L indel.10064 1 220154749 [D/I] NR_002753,NM_004446 RNU5F-1,EPRS EXON rs1061160 1 220154768 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Synonymous_Q1135Q exm149958 1 220156616 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_G1072D exm149960 1 220156670 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_Y1054C exm149963 1 220156704 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_I1043V exm149964 1 220156710 [A/G] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_H1041Y newrs148272159 1 220157548 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Synonymous_Q1030Q exm149966 1 220157548 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Synonymous_Q1030Q rs2789796 1 220160262 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent exm1762440 1 220160514 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_G1003E variant.10066 1 220160653 [A/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Nonsense_G957X exm149971 1 220160715 [A/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_L936R rs2647459 1 220161360 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent variant.10067 1 220161927 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent variant.10068 1 220161931 [A/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent exm149975 1 220161934 [T/G] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_K925Q exm149976 1 220161969 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_E913G variant.10069 1 220162020 [A/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Nonsense_L896X exm149979 1 220162029 [T/G] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_P893H exm149980 1 220162030 [T/G] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_P893T exm149981 1 220162123 [G/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_A862P exm149982 1 220162132 [T/A] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_S859T rs10495143 1 220167371 [A/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent exm149993 1 220170479 [A/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_G796V exm150002 1 220174497 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_E722K rs2647447 1 220175777 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent exm150012 1 220179510 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_I630V exm150015 1 220179653 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_N582S exm150017 1 220180562 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_N575S variant.10071 1 220184377 [A/G] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Nonsense_R506X variant.10072 1 220191790 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent exm150032 1 220191804 [A/G] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_A494V variant.10073 1 220192332 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent exm150038 1 220193423 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_Y419C newrs78046577 1 220193564 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent variant.10076 1 220197605 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent indel.10077 1 220197615 [I/D] NR_002753,NM_004446 RNU5F-1,EPRS EXON exm150046 1 220197625 [T/G] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_D308E exm150048 1 220197663 [G/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_A296P variant.10078 1 220205846 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Synonymous_Q137Q newrs181521242 1 220208251 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent exm150072 1 220213564 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_V32I rs12022181 1 220214212 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent rs6541124 1 220218466 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent rs10863529 1 220228658 [A/G] NR_002753 RNU5F-1 Silent exm150085 1 220232191 [A/G] NR_002753,NM_001286149,NM_006085,NM_001286150,NM_001286151 RNU5F-1,BPNT1,BPNT1,BPNT1,BPNT1 EXON Silent,Missense_P253S,Missense_P308S,Missense_P272S,Missense_P253S var_1_220232283 1 220232283 [T/C] NR_002753,NM_001286149,NM_006085,NM_001286150,NM_001286151 RNU5F-1,BPNT1,BPNT1,BPNT1,BPNT1 EXON Silent,Missense_K222R,Missense_K277R,Missense_K241R,Missense_K222R variant.10081 1 220233028 [T/C] NR_002753,NM_001286149,NM_006085,NM_001286150,NM_001286151 RNU5F-1,BPNT1,BPNT1,BPNT1,BPNT1 EXON Silent,Missense_G205S,Missense_G260S,Missense_G224S,Missense_G205S exm150093 1 220233090 [A/G] NR_002753,NM_001286149,NM_006085,NM_001286150,NM_001286151 RNU5F-1,BPNT1,BPNT1,BPNT1,BPNT1 EXON Silent,Missense_A184V,Missense_A239V,Missense_A203V,Missense_A184V exm150097 1 220236134 [T/C] NR_002753,NM_001286149,NM_006085,NM_001286150,NM_001286151 RNU5F-1,BPNT1,BPNT1,BPNT1,BPNT1 EXON Silent,Missense_D158N,Missense_D213N,Missense_D177N,Missense_D158N exm150100 1 220240666 [T/G] NR_002753,NM_001286149,NM_006085,NM_001286150,NM_001286151 RNU5F-1,BPNT1,BPNT1,BPNT1,BPNT1 EXON Silent,Missense_N96T,Missense_N151T,Missense_N115T,Missense_N96T rs2577152 1 220240997 [T/C] NR_002753,NM_001286149,NM_006085,NM_001286150,NM_001286151 RNU5F-1,BPNT1,BPNT1,BPNT1,BPNT1 Silent,Silent,Silent,Silent,Silent rs2289190 1 220273564 [T/G] NR_002753,NM_018060 RNU5F-1,IARS2 Silent,Silent exm150139 1 220273920 [T/C] NR_002753,NM_018060 RNU5F-1,IARS2 EXON Silent,Missense_I160T exm2232510 1 220275751 [T/C] NR_002753,NM_018060 RNU5F-1,IARS2 EXON Silent,Missense_S249F exm150152 1 220275754 [C/G] NR_002753,NM_018060 RNU5F-1,IARS2 EXON Silent,Missense_R250T variant.10087 1 220275835 [A/C] NR_002753,NM_018060 RNU5F-1,IARS2 Silent,Silent rs2789789 1 220276333 [A/G] NR_002753,NM_018060 RNU5F-1,IARS2 Silent,Silent exm150162 1 220276789 [A/G] NR_002753,NM_018060 RNU5F-1,IARS2 EXON Silent,Synonymous_K317K exm150163 1 220276797 [T/C] NR_002753,NM_018060 RNU5F-1,IARS2 EXON Silent,Missense_V320A exm150165 1 220276854 [T/C] NR_002753,NM_018060 RNU5F-1,IARS2 EXON Silent,Missense_S339F exm150168 1 220276895 [A/T] NR_002753,NM_018060 RNU5F-1,IARS2 EXON Silent,Missense_T353S exm150188 1 220287740 [A/G] NR_002753,NM_018060 RNU5F-1,IARS2 EXON Silent,Missense_I522V exm150206 1 220298664 [A/G] NM_018060 IARS2 EXON Missense_K576E exm1762579 1 220300128 [G/C] NM_018060 IARS2 EXON Missense_Q594E variant.10088 1 220300169 [A/G] NM_018060 IARS2 EXON Nonsense_W607X exm150213 1 220307788 [T/C] NM_018060 IARS2 EXON Missense_L628F exm150217 1 220307849 [A/G] NM_018060 IARS2 EXON Missense_Y648C exm150223 1 220311332 [A/G] NM_018060 IARS2 EXON Missense_E708K exm1762591 1 220311338 [A/G] NM_018060 IARS2 EXON Missense_A710T exm150228 1 220311381 [A/G] NM_018060 IARS2 EXON Missense_S724N exm150233 1 220313529 [C/G] NM_018060 IARS2 EXON Missense_T771S exm150238 1 220313577 [A/G] NM_018060 IARS2 EXON Missense_R787Q variant.10089 1 220315176 [T/C] NM_018060 IARS2 EXON Nonsense_R816X exm150242 1 220316291 [T/A] NM_018060 IARS2 EXON Nonsense_K856X exm150248 1 220318939 [A/G] NM_018060 IARS2 EXON Missense_R947Q exm150257 1 220320957 [G/C] NM_018060 IARS2 EXON Missense_E1007Q indel.10091 1 220320970 [I/D] NM_018060 IARS2 EXON rs11095 1 220321023 [A/G] NM_018060 IARS2 EXON Silent exm150261 1 220324619 [T/C] NM_012414 RAB3GAP2 EXON Missense_E1386K indel.10092 1 220324671 [I/D] NM_012414 RAB3GAP2 EXON exm150263 1 220324715 [T/C] NM_012414 RAB3GAP2 EXON Missense_I1354V exm150266 1 220324983 [T/G] NM_012414 RAB3GAP2 EXON Missense_L1331I exm150277 1 220326552 [T/C] NM_012414 RAB3GAP2 EXON Missense_Y1281C exm150283 1 220327339 [A/C] NM_012414 RAB3GAP2 EXON Missense_D1206Y exm150302 1 220331205 [G/C] NM_012414 RAB3GAP2 EXON Missense_S1092T variant.10093 1 220332733 [A/G] NM_012414 RAB3GAP2 EXON Nonsense_R1086X exm1762630 1 220338086 [T/C] NM_012414 RAB3GAP2 EXON Missense_H1048R exm150307 1 220338117 [T/C] NM_012414 RAB3GAP2 EXON Missense_I1038V rs2808027 1 220339479 [A/G] NM_012414 RAB3GAP2 Silent variant.10094 1 220340839 [A/G] NM_012414 RAB3GAP2 Silent exm150321 1 220344453 [T/C] NM_012414 RAB3GAP2 EXON Missense_T863A variant.10096 1 220345974 [T/G] NM_012414 RAB3GAP2 Silent rs11805285 1 220351723 [T/C] NM_012414 RAB3GAP2 Silent exm150330 1 220355619 [A/G] NM_012414 RAB3GAP2 EXON Missense_L764F exm150334 1 220356096 [T/C] NM_012414 RAB3GAP2 EXON Missense_I726V exm150335 1 220356104 [T/A] NM_012414 RAB3GAP2 EXON Missense_V723E exm150339 1 220356245 [T/C] NM_012414 RAB3GAP2 EXON Missense_E676G exm150342 1 220359007 [A/G] NM_012414 RAB3GAP2 EXON Missense_T619I variant.10097 1 220363401 [T/C] NM_012414 RAB3GAP2 Silent exm150355 1 220363770 [A/G] NM_012414 RAB3GAP2 EXON Missense_P527L exm150367 1 220366594 [A/G] NM_012414 RAB3GAP2 EXON Missense_R420C exm150370 1 220368424 [T/C] NM_012414 RAB3GAP2 EXON Missense_V376I exm150397 1 220379266 [T/C] NM_012414 RAB3GAP2 EXON Missense_R232Q exm150399 1 220379347 [T/C] NM_012414 RAB3GAP2 EXON Missense_N205S exm1762674 1 220383822 [C/G] NM_012414 RAB3GAP2 EXON Missense_L174V variant.10098 1 220387197 [T/C] NM_012414 RAB3GAP2 Silent variant.10099 1 220387198 [A/G] NM_012414 RAB3GAP2 EXON Missense_P102S rs12040095 1 220393414 [T/C] NM_012414 RAB3GAP2 Silent rs6541127 1 220401009 [T/C] NM_012414 RAB3GAP2 Silent exm150412 1 220406148 [T/G] NM_012414 RAB3GAP2 EXON Missense_Q58P rs10779401 1 220435999 [T/C] NM_012414 RAB3GAP2 Silent exm1762691 1 220445634 [T/C] NM_012414 RAB3GAP2 EXON Missense_A16T exm150414 1 220445641 [A/G] NM_012414 RAB3GAP2 EXON Synonymous_D13D exm2250764 1 220445641 [A/G] NM_012414 RAB3GAP2 EXON Synonymous_D13D rs1511695 1 220448330 [A/G] rs4272630 1 220486349 [A/G] rs6541128 1 220489544 [T/C] rs6541137 1 220496232 [A/G] rs1983248 1 220497813 [T/C] rs12058934 1 220499314 [T/G] rs11118528 1 220506871 [T/C] rs17641611 1 220507580 [A/G] rs7544009 1 220527820 [T/C] rs12754802 1 220539533 [T/G] rs12069968 1 220547625 [A/C] rs11118542 1 220559400 [A/G] rs12732389 1 220563560 [T/C] rs7531705 1 220565331 [A/G] exm2264954 1 220565331 [A/G] rs1578049 1 220590437 [T/G] rs1338763 1 220599845 [T/C] rs1338766 1 220606276 [A/G] rs12408337 1 220622474 [T/C] rs6694188 1 220624026 [A/G] rs7555789 1 220625992 [T/C] rs1109534 1 220642287 [T/G] rs12563333 1 220658234 [T/C] rs3842967 1 220658889 [T/C] rs13376101 1 220667154 [T/C] rs12753927 1 220683696 [T/C] rs10863557 1 220684386 [A/G] rs6694126 1 220693001 [T/C] rs1361092 1 220717462 [T/G] NM_001286128,NM_001286124,NM_001286126,NM_018650,NM_001286129 MARK1,MARK1,MARK1,MARK1,MARK1 Silent,Silent,Silent,Silent,Silent rs2589586 1 220725132 [A/G] NM_001286128,NM_001286124,NM_001286126,NM_018650,NM_001286129 MARK1,MARK1,MARK1,MARK1,MARK1 Silent,Silent,Silent,Silent,Silent exm150421 1 220752795 [A/G] NM_001286128,NM_001286124,NM_001286126,NM_018650,NM_001286129 MARK1,MARK1,MARK1,MARK1,MARK1 EXON Missense_T51A,Missense_T51A,Missense_T51A,Missense_T51A,Missense_T51A rs10495150 1 220801974 [A/C] NM_001286128,NM_001286124,NM_001286126,NM_018650 MARK1,MARK1,MARK1,MARK1 Silent,Silent,Silent,Silent exm150450 1 220808767 [A/G] NM_001286128,NM_001286124,NM_001286126,NM_018650 MARK1,MARK1,MARK1,MARK1 EXON Missense_R369Q,Missense_R391Q,Missense_R391Q,Missense_R391Q exm150458 1 220809263 [A/C] NM_001286128,NM_001286124,NM_001286126,NM_018650 MARK1,MARK1,MARK1,MARK1 EXON Missense_K433N,Missense_K455N,Missense_K455N,Missense_K455N exm150459 1 220809268 [T/C] NM_001286128,NM_001286124,NM_001286126,NM_018650 MARK1,MARK1,MARK1,MARK1 EXON Missense_V435A,Missense_V457A,Missense_V457A,Missense_V457A exm1762806 1 220809273 [C/G] NM_001286128,NM_001286124,NM_001286126,NM_018650 MARK1,MARK1,MARK1,MARK1 EXON Missense_R437G,Missense_R459G,Missense_R459G,Missense_R459G exm1762808 1 220823972 [T/A] NM_001286128,NM_001286124,NM_001286126,NM_018650 MARK1,MARK1,MARK1,MARK1 EXON Missense_Y472F,Missense_Y494F,Missense_Y494F,Missense_Y494F exm150462 1 220824019 [A/C] NM_001286128,NM_001286124,NM_001286126,NM_018650 MARK1,MARK1,MARK1,MARK1 EXON Missense_T488P,Missense_T510P,Missense_T510P,Missense_T510P exm150466 1 220825344 [A/G] NM_001286128,NM_001286124,NM_001286126,NM_018650 MARK1,MARK1,MARK1,MARK1 EXON Missense_V508M,Missense_V530M,Missense_V530M,Missense_V530M exm150468 1 220825377 [C/G] NM_001286128,NM_001286124,NM_001286126,NM_018650 MARK1,MARK1,MARK1,MARK1 EXON Missense_A519P,Missense_A541P,Missense_A541P,Missense_A541P exm150483 1 220826649 [T/C] NM_001286128,NM_001286124,NM_001286126,NM_018650 MARK1,MARK1,MARK1,MARK1 EXON Missense_T626M,Missense_T649M,Missense_T648M,Missense_T648M variant.10101 1 220826695 [A/G] NM_001286128,NM_001286124,NM_001286126,NM_018650 MARK1,MARK1,MARK1,MARK1 Silent,Silent,Silent,Silent exm2260009 1 220828454 [T/C] NM_001286128,NM_001286124,NM_001286126,NM_018650 MARK1,MARK1,MARK1,MARK1 Silent,Silent,Silent,Silent rs2994525 1 220849330 [A/G] rs12410279 1 220851520 [A/G] rs364360 1 220864976 [A/C] NM_024709 C1orf115 Silent rs9431295 1 220867903 [T/C] NM_024709 C1orf115 Silent exm150503 1 220869990 [A/G] NM_024709 C1orf115 EXON Missense_V116M exm150505 1 220869999 [A/G] NM_024709 C1orf115 EXON Missense_G119S exm150509 1 220870033 [T/C] NM_024709 C1orf115 EXON Missense_P130L exm150511 1 220870039 [T/C] NM_024709 C1orf115 EXON Missense_A132V rs426020 1 220874101 [A/G] rs365798 1 220879252 [T/C] rs796486 1 220885612 [A/C] rs337170 1 220900396 [A/G] rs337182 1 220906624 [A/C] exm-rs337161 1 220914920 [T/G] rs337161 1 220914920 [T/G] rs189231 1 220918953 [T/C] rs393585 1 220925376 [T/G] NM_001317338,NM_017898,NM_001331042 MARC2,MARC2,MARC2 Silent,Silent,Silent exm150534 1 220928344 [T/C] NM_001317338,NM_017898,NM_001331042 MARC2,MARC2,MARC2 EXON Missense_R110C,Missense_R110C,Missense_R110C exm150537 1 220928438 [T/C] NM_001317338,NM_017898,NM_001331042 MARC2,MARC2,MARC2 EXON Missense_S141F,Missense_S141F,Missense_S141F exm-rs1494373 1 220929356 [T/C] NM_001317338,NM_017898,NM_001331042 MARC2,MARC2,MARC2 Silent,Silent,Silent rs453079 1 220929401 [A/G] NM_001317338,NM_017898,NM_001331042 MARC2,MARC2,MARC2 Silent,Silent,Silent rs2275575 1 220935081 [A/G] NM_001317338,NM_017898,NM_001331042 MARC2,MARC2,MARC2 EXON Synonymous_A176A,Synonymous_A176A,Synonymous_A176A rs10779415 1 220935808 [T/C] NM_001317338,NM_017898,NM_001331042 MARC2,MARC2,MARC2 Silent,Silent,Silent exm150548 1 220936333 [A/T] NM_001317338,NM_017898,NM_001331042 MARC2,MARC2,MARC2 EXON Missense_M231L,Missense_M231L,Missense_M231L exm150550 1 220936372 [A/G] NM_001317338,NM_017898,NM_001331042 MARC2,MARC2,MARC2 EXON Missense_G244S,Missense_G244S,Missense_G244S rs337147 1 220940411 [T/C] NM_001317338,NM_017898,NM_001331042 MARC2,MARC2,MARC2 Silent,Silent,Silent rs17008595 1 220940834 [A/G] NM_001317338,NM_017898,NM_001331042 MARC2,MARC2,MARC2 Silent,Silent,Silent rs7519414 1 220945483 [A/G] NM_001317338,NM_017898,NM_001331042 MARC2,MARC2,MARC2 Silent,Silent,Silent exm150556 1 220953523 [A/C] NM_001317338,NM_017898,NM_001331042 MARC2,MARC2,MARC2 EXON Missense_T276P,Missense_T276P,Silent exm150557 1 220953524 [T/C] NM_001317338,NM_017898,NM_001331042 MARC2,MARC2,MARC2 EXON Missense_T276M,Missense_T276M,Silent indel.10102 1 220955123 [D/I] NM_001317338,NM_017898,NM_001331042 MARC2,MARC2,MARC2 EXON exm150565 1 220955235 [A/C] NM_001317338,NM_017898,NM_001331042 MARC2,MARC2,MARC2 EXON Missense_M334L,Missense_M334L,Silent rs868494 1 220959517 [T/C] rs6682431 1 220964537 [A/G] NM_022746 MARC1 Silent exm150582 1 220964843 [C/G] NM_022746 MARC1 EXON Missense_V96L exm1762898 1 220964877 [A/G] NM_022746 MARC1 EXON Missense_R107H exm150593 1 220969992 [A/G] NM_022746 MARC1 EXON Missense_G153S exm150595 1 220970028 [A/G] NM_022746 MARC1 EXON Missense_T165A exm150596 1 220970031 [A/G] NM_022746 MARC1 EXON Missense_A166T exm150597 1 220970070 [T/C] NM_022746 MARC1 EXON Missense_R179C exm150598 1 220970084 [C/G] NM_022746 MARC1 EXON Missense_F183L exm150599 1 220970095 [A/T] NM_022746 MARC1 EXON Missense_M187K exm150600 1 220970101 [T/C] NM_022746 MARC1 EXON Missense_P189L exm150601 1 220970133 [T/C] NM_022746 MARC1 EXON Nonsense_R200X rs2642439 1 220970499 [A/G] NM_022746 MARC1 Silent exm150608 1 220971339 [A/T] NM_022746 MARC1 EXON Missense_C246S exm150609 1 220971342 [A/G] NM_022746 MARC1 EXON Missense_D247N rs2642441 1 220973426 [T/C] NM_022746 MARC1 Silent rs2642421 1 220977615 [T/C] NM_022746 MARC1 Silent variant.10105 1 220978402 [A/G] NM_022746 MARC1 EXON Nonsense_W254X exm150616 1 220978444 [A/G] NM_022746 MARC1 EXON Missense_M268I exm150617 1 220978456 [A/G] NM_022746 MARC1 Silent variant.10107 1 220978457 [T/C] NM_022746 MARC1 Silent exm150621 1 220978568 [T/C] NM_022746 MARC1 EXON Missense_P280L exm150623 1 220978598 [T/C] NM_022746 MARC1 EXON Missense_P290L rs1874113 1 220979994 [A/C] NM_022746 MARC1 Silent rs11118607 1 220984364 [T/C] NM_022746 MARC1 Silent exm150631 1 220986660 [A/G] NM_022746 MARC1 EXON Missense_R305Q rs2807840 1 220987155 [A/G] NM_022746 MARC1 EXON Silent rs4143772 1 220988346 [A/G] rs7530493 1 220989700 [T/G] rs2131887 1 221007855 [T/C] NR_046901 HLX-AS1 Silent exm-rs12073837 1 221010205 [T/C] NR_046901 HLX-AS1 Silent rs12073837 1 221010205 [T/C] NR_046901 HLX-AS1 Silent rs2807848 1 221010513 [T/G] NR_046901 HLX-AS1 Silent rs1603046 1 221022916 [T/C] NR_046901 HLX-AS1 Silent rs2807854 1 221029841 [T/C] NR_046901 HLX-AS1 Silent rs11118622 1 221042175 [T/C] NR_046901 HLX-AS1 Silent rs2807880 1 221043003 [T/C] NR_046901 HLX-AS1 Silent rs2807857 1 221052640 [T/C] NR_046901 HLX-AS1 Silent exm150652 1 221053698 [T/C] NM_021958 HLX EXON Missense_P167S exm150661 1 221054647 [T/C] NM_021958 HLX EXON Missense_A235V rs2247213 1 221055463 [A/G] NM_021958 HLX Silent exm150672 1 221055533 [A/C] NM_021958 HLX EXON Missense_T267N exm150679 1 221057646 [T/C] NM_021958 HLX EXON Missense_P356L rs3738182 1 221057662 [A/G] NM_021958 HLX EXON Synonymous_E361E exm150681 1 221057667 [T/A] NM_021958 HLX EXON Missense_D363V exm150687 1 221057770 [T/A] NM_021958 HLX EXON Missense_S397R rs2784252 1 221062684 [T/C] rs2807863 1 221067103 [T/G] rs6541166 1 221069370 [A/C] rs1537806 1 221084222 [A/G] rs11587049 1 221099886 [T/C] rs1335915 1 221103744 [A/G] rs12567705 1 221107246 [T/C] rs7542375 1 221111780 [T/G] rs2807881 1 221130125 [A/C] exm2264955 1 221147712 [A/G] rs17513397 1 221152881 [T/C] rs2484696 1 221171310 [A/G] rs10489960 1 221188122 [T/G] rs4142350 1 221194793 [A/G] rs7542237 1 221209184 [T/G] rs11118642 1 221244372 [T/C] rs10218738 1 221280094 [T/C] rs10218741 1 221280235 [A/G] rs4595370 1 221298122 [A/G] rs4484929 1 221313677 [A/G] rs6667902 1 221325413 [T/C] rs7515181 1 221328346 [T/C] rs6541181 1 221365849 [T/C] rs4846689 1 221377435 [A/C] rs10863595 1 221393875 [T/C] exm-rs2378454 1 221396325 [A/G] rs17009664 1 221397750 [T/G] rs6687985 1 221399536 [T/G] rs9431087 1 221413423 [T/G] rs11802047 1 221430342 [A/G] rs3923935 1 221442575 [A/G] rs4846704 1 221448322 [T/C] rs3924520 1 221456218 [T/C] rs6660101 1 221484024 [A/G] rs10863602 1 221486559 [A/C] rs2998397 1 221493742 [T/C] rs17521587 1 221495334 [A/G] rs2996005 1 221496601 [T/C] newrs11579760 1 221507172 [A/G] NR_024236 C1orf140 EXON Silent rs4313406 1 221511715 [T/C] exm2268834 1 221511715 [T/C] rs4517352 1 221523673 [A/G] rs12044275 1 221526452 [A/G] rs12410731 1 221533350 [T/C] exm-rs12733856 1 221551539 [A/C] rs2378483 1 221575390 [A/G] rs3131533 1 221579628 [A/G] rs1459223 1 221582028 [T/C] rs3131537 1 221583559 [A/G] rs10159368 1 221593165 [T/C] rs9726422 1 221604980 [A/G] rs1031675 1 221605304 [A/G] exm-rs12032381 1 221617076 [A/C] rs11118717 1 221624817 [A/G] rs1459229 1 221632498 [T/C] rs6699367 1 221651040 [A/G] rs1903138 1 221652503 [T/G] rs11118731 1 221657634 [A/G] rs10863628 1 221682007 [A/C] rs2005574 1 221684604 [A/C] rs9725646 1 221685360 [T/C] rs1858566 1 221690507 [A/G] rs9308395 1 221690855 [T/C] rs9730262 1 221694627 [A/G] rs9725124 1 221734237 [T/C] rs12564947 1 221743047 [A/G] rs12133543 1 221752376 [A/G] rs9659823 1 221753645 [A/G] rs11118771 1 221773994 [A/G] rs3860324 1 221809552 [T/C] rs6697462 1 221811055 [A/G] rs2176690 1 221817308 [A/G] rs7520263 1 221821302 [A/G] rs6701049 1 221837700 [A/G] rs6655944 1 221843372 [A/G] rs13376168 1 221848970 [T/C] rs1815577 1 221864710 [T/C] rs6604665 1 221869434 [A/C] rs908857 1 221874684 [A/G] indel.10111 1 221875788 [I/D] NR_111940,NM_007207,NR_111939 DUSP10,DUSP10,DUSP10 EXON exm150731 1 221879569 [T/C] NR_111940,NM_007207,NR_111939 DUSP10,DUSP10,DUSP10 EXON Silent,Missense_V351I,Silent exm150738 1 221879742 [A/C] NR_111940,NM_007207,NR_111939 DUSP10,DUSP10,DUSP10 EXON Silent,Missense_C293F,Silent rs12749729 1 221883496 [A/G] NR_111940,NM_007207,NR_111939 DUSP10,DUSP10,DUSP10 Silent,Silent,Silent rs982292 1 221891352 [T/G] NR_111940,NM_007207,NR_111939 DUSP10,DUSP10,DUSP10 Silent,Silent,Silent rs17010629 1 221895393 [T/C] NR_111940,NM_007207,NR_111939 DUSP10,DUSP10,DUSP10 Silent,Silent,Silent exm2260011 1 221898783 [T/C] NR_111940,NM_007207,NR_111939 DUSP10,DUSP10,DUSP10 Silent,Silent,Silent exm150759 1 221912675 [A/G] NR_111940,NM_007207 DUSP10,DUSP10 EXON Silent,Missense_S138P exm150776 1 221912939 [T/C] NR_111940,NM_007207 DUSP10,DUSP10 EXON Silent,Missense_V50I exm150778 1 221912959 [T/G] NR_111940,NM_007207 DUSP10,DUSP10 EXON Silent,Missense_P43H exm150779 1 221912999 [T/G] NR_111940,NM_007207 DUSP10,DUSP10 EXON Silent,Missense_S30R variant.10113 1 221913032 [A/G] NR_111940,NM_007207 DUSP10,DUSP10 EXON Silent,Nonsense_R19X rs4589119 1 221915967 [A/G] rs10863652 1 221923042 [A/G] rs6690778 1 221929177 [T/C] rs7546398 1 221935450 [T/C] rs11118852 1 221940271 [A/G] rs4433402 1 221946172 [A/G] rs3010852 1 221946207 [T/C] rs11118858 1 221952958 [T/G] rs11118860 1 221953558 [T/C] rs4240927 1 221958189 [T/C] rs10495177 1 221958998 [T/C] rs12089785 1 221968224 [T/C] rs9441867 1 221977513 [A/G] rs6604673 1 221991112 [A/G] rs12042853 1 221991428 [A/G] rs3003892 1 221994043 [T/G] rs10863663 1 221994525 [A/G] rs4418610 1 222008026 [T/C] NR_125989 LINC01655 Silent rs6673674 1 222019354 [T/C] rs10495181 1 222021079 [T/G] rs12144971 1 222032485 [T/C] rs4240931 1 222039055 [T/C] rs6604676 1 222042179 [A/G] rs11118882 1 222053234 [T/C] rs11811613 1 222055403 [A/G] rs11118883 1 222061022 [A/G] rs7547751 1 222065709 [T/C] rs11579212 1 222072819 [A/C] rs6604689 1 222078040 [T/C] rs4457591 1 222078600 [T/C] rs7520693 1 222084135 [A/C] rs10863667 1 222087406 [A/G] NR_149057 LINC02257 Silent rs3828088 1 222087833 [T/G] NR_149057 LINC02257 EXON Silent exm2268835 1 222093006 [T/C] NR_149057 LINC02257 Silent rs7554115 1 222102582 [T/C] NR_149057 LINC02257 Silent rs2800853 1 222111006 [T/C] NR_149057 LINC02257 Silent rs12122784 1 222120767 [A/C] NR_149057 LINC02257 Silent rs2800846 1 222122590 [T/C] NR_149057 LINC02257 Silent rs12036536 1 222152402 [A/G] NR_149071 LINC02474 Silent exm-rs6687758 1 222164948 [A/G] rs6687758 1 222164948 [A/G] rs11118924 1 222168110 [T/C] rs7546586 1 222168464 [T/C] rs2800856 1 222174101 [A/G] rs2800860 1 222183226 [T/C] rs2584315 1 222206887 [A/G] rs7517520 1 222212174 [A/G] rs17011257 1 222215805 [T/C] rs7538392 1 222222851 [T/G] rs2066136 1 222230715 [T/G] rs7548749 1 222241688 [A/G] rs12138480 1 222252021 [A/G] rs10863685 1 222255923 [A/G] rs7517086 1 222271325 [T/C] exm-rs873549 1 222271767 [T/C] rs753961 1 222273249 [T/C] rs17011388 1 222289048 [A/G] rs17444339 1 222289598 [A/G] rs7513668 1 222295588 [A/G] rs2378522 1 222301317 [T/G] rs11118953 1 222302968 [A/G] rs7518250 1 222317641 [A/G] rs12750381 1 222362840 [A/G] rs158735 1 222366608 [T/G] rs1028861 1 222426667 [A/G] rs158731 1 222443578 [A/G] rs35869320 1 222456692 [T/G] rs11487844 1 222466162 [T/G] rs35082873 1 222497526 [A/G] rs4511115 1 222513180 [T/C] rs4364889 1 222519003 [A/G] rs34559460 1 222538556 [T/C] rs4459116 1 222547295 [T/C] rs4846364 1 222550292 [T/C] rs17507835 1 222553902 [T/G] rs1108870 1 222578271 [A/G] rs17461806 1 222584505 [A/G] rs34595518 1 222606561 [T/C] exm-rs17163128 1 222619902 [T/C] rs17163128 1 222619902 [T/C] rs17163136 1 222625645 [T/C] exm2263851 1 222640209 [A/C] kgp11829886 1 222640879 [T/C] exm150785 1 222696004 [A/C] NM_024746 HHIPL2 EXON Missense_S705I exm150788 1 222696034 [T/C] NM_024746 HHIPL2 EXON Missense_R695H exm150789 1 222696035 [A/G] NM_024746 HHIPL2 EXON Missense_R695C variant.10115 1 222696080 [A/G] NM_024746 HHIPL2 EXON Nonsense_R680X exm150797 1 222696171 [T/A] NM_024746 HHIPL2 EXON Missense_S649R exm1763700 1 222700317 [C/G] NM_024746 HHIPL2 EXON Missense_P600R variant.10117 1 222700352 [A/C] NM_024746 HHIPL2 EXON Nonsense_Y588X exm150812 1 222700374 [A/G] NM_024746 HHIPL2 EXON Missense_A581V variant.10118 1 222705307 [T/C] NM_024746 HHIPL2 Silent exm150818 1 222705379 [A/G] NM_024746 HHIPL2 EXON Missense_T551M exm150819 1 222705418 [T/G] NM_024746 HHIPL2 EXON Missense_K538T rs4846376 1 222707392 [T/C] NM_024746 HHIPL2 Silent exm150829 1 222712108 [T/G] NM_024746 HHIPL2 EXON Missense_L487M rs35746652 1 222713208 [A/G] NM_024746 HHIPL2 Silent exm150831 1 222713360 [A/G] NM_024746 HHIPL2 EXON Missense_A481V exm150832 1 222713361 [A/C] NM_024746 HHIPL2 EXON Missense_A481S exm150842 1 222713519 [T/C] NM_024746 HHIPL2 EXON Missense_R428Q exm150844 1 222713534 [T/C] NM_024746 HHIPL2 EXON Missense_R423H exm150849 1 222713621 [T/C] NM_024746 HHIPL2 EXON Missense_R394Q exm150851 1 222713631 [C/G] NM_024746 HHIPL2 EXON Missense_H391D exm150854 1 222715384 [T/G] NM_024746 HHIPL2 EXON Missense_P363H exm2277028 1 222716993 [A/C] NM_024746 HHIPL2 EXON Missense_R287L exm150861 1 222717027 [T/C] NM_024746 HHIPL2 EXON Missense_G276R exm150864 1 222717066 [A/C] NM_024746 HHIPL2 EXON Missense_L263V rs3811466 1 222717132 [T/C] NM_024746 HHIPL2 EXON Missense_V241M exm150870 1 222717132 [T/C] NM_024746 HHIPL2 EXON Missense_V241M exm150875 1 222717264 [T/C] NM_024746 HHIPL2 EXON Missense_V197M indel.10122 1 222717329 [D/I] NM_024746 HHIPL2 EXON exm1763723 1 222717354 [T/G] NM_024746 HHIPL2 EXON Missense_R167S exm150883 1 222721160 [T/C] NM_024746 HHIPL2 EXON Missense_R76H exm150897 1 222732027 [T/C] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_Y329C,Missense_Y443C,Missense_Y443C exm150898 1 222732051 [T/C] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_R321Q,Missense_R435Q,Missense_R435Q rs4481859 1 222732656 [T/G] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A Silent,Silent,Silent exm150902 1 222734774 [T/C] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_S277N,Missense_S391N,Missense_S391N exm150910 1 222736623 [T/C] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_R212H,Missense_R326H,Missense_R326H rs2133185 1 222738970 [A/G] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A Silent,Silent,Silent exm150920 1 222742851 [T/C] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A Silent,Silent,Silent exm150921 1 222742866 [A/T] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_I180L,Missense_I294L,Missense_I294L exm150924 1 222742965 [T/G] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_T147P,Missense_T261P,Missense_T261P exm150926 1 222742989 [A/G] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A EXON Nonsense_R139X,Nonsense_R253X,Nonsense_R253X rs3002124 1 222748085 [A/G] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A Silent,Silent,Silent exm150933 1 222750825 [T/A] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_Y75F,Missense_Y189F,Missense_Y189F indel.10129 1 222750856 [D/I] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A EXON exm150935 1 222750877 [A/G] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_R58W,Missense_R172W,Missense_R172W variant.10130 1 222750976 [A/G] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A EXON Nonsense_Q25X,Nonsense_Q139X,Nonsense_Q139X rs2936033 1 222751034 [T/C] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A Silent,Silent,Silent exm150940 1 222753162 [A/G] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_M1T,Missense_M115T,Missense_M115T exm150942 1 222753212 [A/C] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A EXON Silent,Missense_I98M,Missense_I98M exm150948 1 222757615 [T/C] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A EXON Silent,Missense_D49G,Missense_D49G indel.10133 1 222761799 [I/D] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A EXON exm-rs17464857 1 222762709 [T/G] NM_139352,NM_001201536,NM_005681 TAF1A,TAF1A,TAF1A Silent,Silent,Silent rs3008594 1 222769144 [T/C] rs3002142 1 222788062 [T/C] 1KG_1_222794607 1 222794607 [D/I] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON exm150964 1 222800921 [T/C] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_T120M,Missense_T120M,Silent,Missense_T120M exm150967 1 222800987 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_G142E,Missense_G142E,Silent,Missense_G142E exm2232547 1 222801103 [C/G] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_P181A,Missense_P181A,Missense_P17A,Missense_P181A exm150980 1 222801448 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_V296I,Missense_V296I,Missense_V132I,Missense_V296I exm150985 1 222801601 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_V347I,Missense_V347I,Missense_V183I,Missense_V347I variant.10134 1 222801635 [A/C] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Nonsense_S358X,Nonsense_S358X,Nonsense_S194X,Nonsense_S358X exm150988 1 222801661 [A/T] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_T367S,Missense_T367S,Missense_T203S,Missense_T367S exm150989 1 222801721 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_I387V,Missense_I387V,Missense_I223V,Missense_I387V exm150995 1 222801868 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_D436N,Missense_D436N,Missense_D272N,Missense_D436N exm151000 1 222802006 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_K482E,Missense_K482E,Missense_K318E,Missense_K482E variant.10135 1 222802037 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_G492D,Missense_G492D,Missense_G328D,Missense_G492D exm151003 1 222802169 [T/C] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_S536L,Missense_S536L,Missense_S372L,Missense_S536L exm151006 1 222802243 [A/C] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_K561Q,Missense_K561Q,Missense_K397Q,Missense_K561Q exm151011 1 222802327 [T/A] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_N589Y,Missense_N589Y,Missense_N425Y,Missense_N589Y exm151013 1 222802376 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_K605R,Missense_K605R,Missense_K441R,Missense_K605R exm151016 1 222802423 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_E621K,Missense_E621K,Missense_E457K,Missense_E621K exm151021 1 222802591 [T/C] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_L677F,Missense_L677F,Missense_L513F,Missense_L677F exm151025 1 222802652 [T/C] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_M697T,Missense_M697T,Missense_M533T,Missense_M697T exm151026 1 222802669 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_G703R,Missense_G703R,Missense_G539R,Missense_G703R exm151027 1 222802735 [T/C] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_Y725H,Missense_Y725H,Missense_Y561H,Missense_Y725H exm151028 1 222802754 [T/C] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_L731P,Missense_L731P,Missense_L567P,Missense_L731P exm151033 1 222802822 [T/A] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_F754I,Missense_F754I,Missense_F590I,Missense_F754I exm151039 1 222803062 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_I834V,Missense_I834V,Missense_I670V,Missense_I834V exm151041 1 222803114 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_D851G,Missense_D851G,Missense_D687G,Missense_D851G exm151046 1 222803199 [A/C] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_D879E,Missense_D879E,Missense_D715E,Missense_D879E exm151047 1 222803204 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_E881G,Missense_E881G,Missense_E717G,Missense_E881G exm1763781 1 222803248 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_A896T,Missense_A896T,Missense_A732T,Missense_A896T exm151048 1 222803249 [T/C] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_A896V,Missense_A896V,Missense_A732V,Missense_A896V exm151053 1 222803332 [A/C] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_L924I,Missense_L924I,Missense_L760I,Missense_L924I exm151057 1 222803457 [C/G] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_E965D,Missense_E965D,Missense_E801D,Missense_E965D exm151058 1 222803465 [G/C] NM_198551,NM_001324062,NM_001324064,NM_001324063 MIA3,MIA3,MIA3,MIA3 EXON Missense_P968R,Missense_P968R,Missense_P804R,Missense_P968R exm151078 1 222818925 [T/G] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 EXON Missense_Q1169H,Missense_Q1169H,Missense_Q1005H,Missense_Q1169H,Missense_Q47H,Missense_Q47H exm-rs17465637 1 222823529 [A/C] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 Silent,Silent,Silent,Silent,Silent,Silent exm151083 1 222823669 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 EXON Missense_I1223V,Missense_I1223V,Missense_I1059V,Missense_I1223V,Missense_I101V,Missense_I101V rs2291832 1 222826481 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 Silent,Silent,Silent,Silent,Silent,Silent exm151104 1 222826656 [A/T] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 EXON Missense_D1432E,Missense_D1432E,Missense_D1268E,Missense_D1373E,Missense_D310E,Missense_D310E rs2088514 1 222831372 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 Silent,Silent,Silent,Silent,Silent,Silent exm151118 1 222832098 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 EXON Missense_R1548G,Missense_R1548G,Missense_R1384G,Missense_R1489G,Missense_R426G,Missense_R426G exm151119 1 222832102 [A/C] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 EXON Missense_E1549A,Missense_E1549A,Missense_E1385A,Missense_E1490A,Missense_E427A,Missense_E427A exm151125 1 222832967 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 EXON Missense_A1592T,Missense_A1592T,Missense_A1428T,Missense_A1533T,Missense_A470T,Missense_A470T exm151126 1 222832992 [A/C] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 EXON Missense_E1600A,Missense_E1600A,Missense_E1436A,Missense_E1541A,Missense_E478A,Missense_E478A exm151127 1 222833104 [T/C] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 EXON Missense_I1612T,Missense_I1612T,Missense_I1448T,Missense_I1553T,Missense_I490T,Missense_I490T exm151129 1 222833270 [T/A] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 EXON Missense_M1633L,Missense_M1633L,Missense_M1469L,Missense_M1574L,Missense_M511L,Missense_M511L exm151142 1 222835658 [T/C] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 EXON Missense_V1749A,Missense_V1749A,Missense_V1585A,Missense_V1690A,Missense_V627A,Missense_V627A exm151143 1 222835663 [G/C] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 EXON Missense_D1751H,Missense_D1751H,Missense_D1587H,Missense_D1692H,Missense_D629H,Missense_D629H exm151149 1 222837470 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 EXON Missense_R1798Q,Missense_R1822Q,Missense_R1634Q,Missense_R1739Q,Missense_R700Q,Missense_R676Q rs2270707 1 222837594 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 Silent,Silent,Silent,Silent,Silent,Silent exm151152 1 222838663 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 EXON Missense_R1809H,Missense_R1833H,Missense_R1645H,Missense_R1750H,Missense_R711H,Missense_R687H exm151163 1 222838833 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 EXON Missense_G1866S,Missense_G1890S,Missense_G1702S,Missense_G1807S,Missense_G768S,Missense_G744S variant.10141 1 222838936 [A/C] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 EXON Nonsense_S1900X,Nonsense_S1924X,Nonsense_S1736X,Nonsense_S1841X,Nonsense_S802X,Nonsense_S778X indel.10142 1 222838946 [D/I] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 EXON exm151168 1 222838950 [T/C] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 EXON Nonsense_Q1905X,Nonsense_Q1929X,Nonsense_Q1741X,Nonsense_Q1846X,Nonsense_Q807X,Nonsense_Q783X rs1053316 1 222839838 [A/G] NM_198551,NM_001324062,NM_001324064,NM_001324063,NM_001324065,NM_001300867 MIA3,MIA3,MIA3,MIA3,MIA3,MIA3 EXON Silent,Silent,Silent,Silent,Silent,Silent rs17163431 1 222858398 [T/C] NM_022831 AIDA Silent variant.10144 1 222867551 [T/C] NM_022831 AIDA Silent rs3811465 1 222886119 [A/G] NM_001288579,NR_109927,NM_144695 BROX,BROX,BROX EXON Silent,Silent,Silent variant.10145 1 222892289 [T/C] NM_001288579,NM_144695,NM_001288581,NM_001288580 BROX,BROX,BROX,BROX EXON Nonsense_R42X,Nonsense_R42X,Nonsense_R42X,Nonsense_R42X exm151202 1 222892325 [A/C] NM_001288579,NM_144695,NM_001288581,NM_001288580 BROX,BROX,BROX,BROX EXON Missense_P54T,Missense_P54T,Missense_P54T,Missense_P54T exm151204 1 222892344 [T/C] NM_001288579,NM_144695,NM_001288581,NM_001288580 BROX,BROX,BROX,BROX EXON Missense_A60V,Missense_A60V,Missense_A60V,Missense_A60V variant.10146 1 222892649 [T/C] NM_001288579,NM_144695,NM_001288581,NM_001288580 BROX,BROX,BROX,BROX EXON Nonsense_R85X,Nonsense_R85X,Nonsense_R85X,Nonsense_R85X exm151207 1 222892660 [A/C] NM_001288579,NM_144695,NM_001288581,NM_001288580 BROX,BROX,BROX,BROX EXON Missense_Q88H,Missense_Q88H,Missense_Q88H,Missense_Q88H variant.10147 1 222892706 [A/G] NM_001288579,NM_144695,NM_001288581,NM_001288580 BROX,BROX,BROX,BROX Silent,Silent,Silent,Silent exm151214 1 222898838 [A/C] NM_001288579,NM_144695,NM_001288581,NM_001288580 BROX,BROX,BROX,BROX EXON Missense_D142A,Missense_D174A,Missense_D174A,Missense_D142A exm151250 1 222919895 [T/G] NR_136691,NM_207468,NM_001324080 FAM177B,FAM177B,FAM177B EXON Silent,Missense_I3S,Missense_I3S exm2250786 1 222919965 [T/C] NR_136691,NM_207468,NM_001324080 FAM177B,FAM177B,FAM177B EXON Silent,Synonymous_I26I,Synonymous_I26I exm1763869 1 222919998 [A/T] NR_136691,NM_207468,NM_001324080 FAM177B,FAM177B,FAM177B EXON Silent,Nonsense_Y37X,Nonsense_Y37X exm151257 1 222920029 [G/C] NR_136691,NM_207468,NM_001324080 FAM177B,FAM177B,FAM177B EXON Silent,Missense_E48Q,Missense_E48Q newrs144113819 1 222920384 [T/C] NR_136691,NM_207468,NM_001324080 FAM177B,FAM177B,FAM177B EXON Silent,Nonsense_R68X,Nonsense_R68X exm151261 1 222920384 [T/C] NR_136691,NM_207468,NM_001324080 FAM177B,FAM177B,FAM177B EXON Silent,Nonsense_R68X,Nonsense_R68X exm151263 1 222920393 [G/C] NR_136691,NM_207468,NM_001324080 FAM177B,FAM177B,FAM177B EXON Silent,Missense_A71P,Missense_A71P exm151264 1 222920400 [A/G] NR_136691,NM_207468,NM_001324080 FAM177B,FAM177B,FAM177B EXON Silent,Missense_R73Q,Missense_R73Q rs17011714 1 222922168 [A/C] NR_136691,NM_207468,NM_001324080 FAM177B,FAM177B,FAM177B Silent,Silent,Silent indel.10153 1 222922851 [D/I] NR_136691,NM_207468,NM_001324080 FAM177B,FAM177B,FAM177B EXON rs2068814 1 222923001 [A/G] NR_136691,NM_207468,NM_001324080 FAM177B,FAM177B,FAM177B Silent,Silent,Silent exm151275 1 222923351 [A/G] NR_136691,NM_207468,NM_001324080 FAM177B,FAM177B,FAM177B EXON Silent,Missense_Q143R,Missense_Q143R rs3922772 1 222951972 [T/C] rs17162912 1 222974926 [T/C] rs34419230 1 222987443 [T/C] rs34229647 1 222992740 [A/C] NM_001350630,NM_032890 DISP1,DISP1 Silent,Silent rs11487861 1 223004049 [T/G] NM_001350630,NM_032890 DISP1,DISP1 Silent,Silent rs34194482 1 223022931 [A/C] NM_001350630,NM_032890 DISP1,DISP1 Silent,Silent rs34764163 1 223034487 [A/G] NM_001350630,NM_032890 DISP1,DISP1 Silent,Silent rs34892353 1 223042940 [T/C] NM_001350630,NM_032890 DISP1,DISP1 Silent,Silent rs17163542 1 223068480 [T/C] NM_001350630,NM_032890 DISP1,DISP1 Silent,Silent rs34715037 1 223078802 [A/G] NM_001350630,NM_032890 DISP1,DISP1 Silent,Silent rs2068483 1 223082306 [A/G] NM_001350630,NM_032890 DISP1,DISP1 Silent,Silent rs35947998 1 223085331 [A/G] NM_001350630,NM_032890 DISP1,DISP1 Silent,Silent rs2609398 1 223096578 [A/G] NM_001350630,NM_032890 DISP1,DISP1 Silent,Silent rs2254329 1 223108966 [T/G] NM_001350630,NM_032890 DISP1,DISP1 Silent,Silent exm1763903 1 223116452 [G/C] NM_001350630,NM_032890 DISP1,DISP1 EXON Silent,Missense_S96T exm151298 1 223116472 [A/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Silent,Missense_E103K exm151299 1 223116474 [T/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Silent,Missense_E103D variant.10155 1 223116637 [T/C] NM_001350630,NM_032890 DISP1,DISP1 EXON Silent,Nonsense_Q158X rs10495205 1 223123348 [A/G] NM_001350630,NM_032890 DISP1,DISP1 Silent,Silent rs2789931 1 223130319 [A/G] NM_001350630,NM_032890 DISP1,DISP1 Silent,Silent rs36017274 1 223147097 [A/G] NM_001350630,NM_032890 DISP1,DISP1 Silent,Silent rs34684409 1 223148727 [T/C] NM_001350630,NM_032890 DISP1,DISP1 Silent,Silent rs2789954 1 223159380 [A/G] NM_001350630,NM_032890 DISP1,DISP1 Silent,Silent rs17478205 1 223162746 [A/G] NM_001350630,NM_032890 DISP1,DISP1 Silent,Silent exm151312 1 223163993 [T/C] NM_001350630,NM_032890 DISP1,DISP1 EXON Silent,Missense_P189L exm151322 1 223164937 [A/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Silent,Missense_K247E indel.10156 1 223168225 [I/D] NM_001350630,NM_032890 DISP1,DISP1 variant.10157 1 223175856 [T/C] NM_001350630,NM_032890 DISP1,DISP1 EXON Nonsense_R130X,Nonsense_R373X exm151343 1 223176061 [T/C] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_T198M,Missense_T441M exm151349 1 223176145 [T/C] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_L226S,Missense_L469S newrs147375741 1 223176941 [A/C] NM_001350630,NM_032890 DISP1,DISP1 EXON Nonsense_Y491X,Nonsense_Y734X exm151389 1 223177116 [A/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_V550M,Missense_V793M exm151401 1 223177444 [A/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_G659E,Missense_G902E variant.10159 1 223177521 [T/C] NM_001350630,NM_032890 DISP1,DISP1 EXON Nonsense_Q685X,Nonsense_Q928X exm151406 1 223177522 [A/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_Q685R,Missense_Q928R exm151420 1 223177948 [A/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_G827D,Missense_G1070D exm151422 1 223177972 [A/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_R835H,Missense_R1078H exm151423 1 223177974 [A/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_V836M,Missense_V1079M exm151428 1 223178025 [A/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_M853V,Missense_M1096V exm151429 1 223178026 [T/C] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_M853T,Missense_M1096T exm151432 1 223178134 [A/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_R889Q,Missense_R1132Q exm151438 1 223178193 [A/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_S909G,Missense_S1152G exm151439 1 223178226 [A/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_S920G,Missense_S1163G exm151440 1 223178364 [A/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_T966A,Missense_T1209A exm151441 1 223178455 [T/C] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_L996P,Missense_L1239P exm2232563 1 223178474 [A/T] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_S1002R,Missense_S1245R exm151443 1 223178478 [A/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_A1004T,Missense_A1247T exm151445 1 223178520 [A/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_V1018M,Missense_V1261M exm151447 1 223178581 [A/T] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_N1038I,Missense_N1281I exm151448 1 223178670 [A/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_G1068S,Missense_G1311S exm151449 1 223178673 [A/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_V1069M,Missense_V1312M exm151452 1 223178706 [A/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_E1080K,Missense_E1323K exm151454 1 223178728 [T/C] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_T1087M,Missense_T1330M indel.10161 1 223178973 [D/I] NM_001350630,NM_032890 DISP1,DISP1 EXON exm1763965 1 223178988 [T/C] NM_001350630,NM_032890 DISP1,DISP1 EXON Missense_C1174R,Missense_C1417R variant.10162 1 223179139 [T/G] NM_001350630,NM_032890 DISP1,DISP1 EXON Nonsense_L1224X,Nonsense_L1467X rs2789948 1 223184459 [T/G] rs34558820 1 223188116 [T/G] exm2264956 1 223194033 [A/G] rs2609348 1 223194033 [A/G] rs17538400 1 223194696 [T/C] rs2789921 1 223209450 [T/G] rs946511 1 223213967 [A/G] rs755352 1 223214800 [A/G] exm2232565 1 223283807 [A/G] NM_003268 TLR5 EXON Missense_T856I exm151474 1 223283837 [T/C] NM_003268 TLR5 EXON Missense_D846G exm151478 1 223283910 [A/G] NM_003268 TLR5 EXON Missense_F822L exm151482 1 223284038 [T/C] NM_003268 TLR5 EXON Missense_C779Y exm151483 1 223284047 [T/C] NM_003268 TLR5 EXON Missense_Q776R exm151485 1 223284069 [A/G] NM_003268 TLR5 EXON Missense_L769F exm151487 1 223284120 [T/C] NM_003268 TLR5 EXON Missense_R752G exm151489 1 223284156 [A/G] NM_003268 TLR5 EXON Missense_R740C indel.10165 1 223284167 [D/I] NM_003268 TLR5 EXON exm151493 1 223284214 [T/A] NM_003268 TLR5 EXON Missense_S720R exm151500 1 223284528 [A/G] NM_003268 TLR5 EXON Missense_F616L variant.10167 1 223284538 [T/G] NM_003268 TLR5 EXON Nonsense_Y612X exm151505 1 223284599 [T/C] NM_003268 TLR5 EXON Missense_N592S exm151509 1 223284713 [T/C] NM_003268 TLR5 EXON Missense_D554G exm151510 1 223284723 [G/C] NM_003268 TLR5 EXON Missense_E551Q exm151512 1 223284731 [A/G] NM_003268 TLR5 EXON Missense_A548V exm151516 1 223284810 [A/G] NM_003268 TLR5 EXON Missense_F522L exm151517 1 223284915 [T/G] NM_003268 TLR5 EXON Missense_L487I exm151518 1 223284965 [A/G] NM_003268 TLR5 EXON Missense_S470L indel.10168 1 223285180 [D/I] NM_003268 TLR5 EXON exm151525 1 223285200 [A/G] NM_003268 TLR5 EXON Nonsense_R392X exm1763982 1 223285215 [A/G] NM_003268 TLR5 EXON Nonsense_Q387X exm151529 1 223285305 [A/T] NM_003268 TLR5 EXON Missense_Y357N exm151531 1 223285313 [A/G] NM_003268 TLR5 EXON Missense_S354L exm151537 1 223285435 [A/C] NM_003268 TLR5 EXON Missense_D313E variant.10170 1 223285487 [T/G] NM_003268 TLR5 EXON Nonsense_S296X exm151546 1 223285601 [T/A] NM_003268 TLR5 EXON Nonsense_L258X exm151555 1 223285833 [T/G] NM_003268 TLR5 EXON Missense_Q181K exm1763987 1 223285901 [T/C] NM_003268 TLR5 EXON Missense_R158H exm151559 1 223285910 [T/G] NM_003268 TLR5 EXON Missense_N155T exm151561 1 223285946 [T/G] NM_003268 TLR5 EXON Missense_N143T exm151563 1 223286040 [G/C] NM_003268 TLR5 EXON Missense_P112A exm151565 1 223286129 [A/G] NM_003268 TLR5 EXON Missense_T82I exm151566 1 223286138 [T/C] NM_003268 TLR5 EXON Missense_S79N indel.10172 1 223286256 [D/I] NM_003268 TLR5 EXON exm151572 1 223286273 [T/C] NM_003268 TLR5 EXON Missense_R34H rs851178 1 223306431 [A/G] NM_003268 TLR5 Silent rs2096142 1 223311845 [T/C] NM_003268 TLR5 Silent rs1640812 1 223323060 [A/C] rs2247421 1 223339689 [A/C] rs851171 1 223349020 [A/G] rs851165 1 223374948 [A/G] exm151584 1 223396624 [C/G] NM_017982 SUSD4 EXON Missense_A471P exm151586 1 223396645 [A/C] NM_017982 SUSD4 EXON Missense_A464S exm151588 1 223396738 [T/C] NM_017982 SUSD4 EXON Missense_V433I exm151591 1 223396798 [T/C] NM_017982 SUSD4 EXON Missense_A413T exm151597 1 223396858 [T/C] NM_017982 SUSD4 EXON Missense_G393R indel.10177 1 223408378 [I/D] NM_017982,NM_001037175 SUSD4,SUSD4 EXON indel.10178 1 223408433 [D/I] NM_017982,NM_001037175 SUSD4,SUSD4 EXON rs851215 1 223414261 [T/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs851206 1 223424645 [T/C] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs712857 1 223434633 [A/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent exm151623 1 223437989 [T/C] NM_017982,NM_001037175 SUSD4,SUSD4 EXON Missense_R236Q,Missense_R236Q exm1764033 1 223438018 [T/G] NM_017982,NM_001037175 SUSD4,SUSD4 EXON Missense_Q226H,Missense_Q226H exm151629 1 223438070 [T/C] NM_017982,NM_001037175 SUSD4,SUSD4 EXON Missense_R209H,Missense_R209H exm2265084 1 223438771 [A/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs3820596 1 223441672 [A/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent exm151634 1 223441882 [T/C] NM_017982,NM_001037175 SUSD4,SUSD4 EXON Missense_R166H,Missense_R166H exm151644 1 223442011 [T/C] NM_017982,NM_001037175 SUSD4,SUSD4 EXON Missense_R123H,Missense_R123H rs17517806 1 223449236 [A/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent variant.10180 1 223465898 [A/G] NM_017982,NM_001037175 SUSD4,SUSD4 EXON Nonsense_R82X,Nonsense_R82X rs2795063 1 223466400 [A/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs17163774 1 223467316 [T/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent exm2268836 1 223467316 [T/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs1518044 1 223479813 [A/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs34468460 1 223482641 [A/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs17487717 1 223486421 [T/C] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs1518040 1 223497150 [A/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs1400960 1 223502811 [T/C] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs17163825 1 223523854 [T/C] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent indel.10181 1 223536720 [I/D] NM_017982,NM_001037175 SUSD4,SUSD4 EXON rs1772283 1 223553189 [T/C] rs2487521 1 223561802 [T/C] exm151661 1 223566876 [A/G] NM_152610 CCDC185 EXON Missense_R20Q exm1764065 1 223567028 [T/C] NM_152610 CCDC185 EXON Missense_R71C exm151687 1 223567401 [T/C] NM_152610 CCDC185 EXON Missense_V195A exm2250793 1 223567441 [T/C] NM_152610 CCDC185 EXON Synonymous_C208C exm1764069 1 223567613 [T/C] NM_152610 CCDC185 EXON Missense_R266C rs10907376 1 223567803 [A/G] NM_152610 CCDC185 EXON Missense_G329D exm151706 1 223567808 [T/C] NM_152610 CCDC185 EXON Missense_R331W exm151723 1 223568054 [A/G] NM_152610 CCDC185 EXON Missense_V413M variant.10186 1 223568360 [T/C] NM_152610 CCDC185 EXON Nonsense_R515X exm151750 1 223568559 [G/C] NM_152610 CCDC185 EXON Missense_P581R rs1772290 1 223579329 [A/C] rs825130 1 223584719 [T/C] rs825116 1 223587515 [A/C] rs2678370 1 223594054 [T/C] rs825133 1 223604499 [T/C] rs1417749 1 223611033 [T/C] rs11261272 1 223619066 [T/C] rs11261279 1 223627024 [T/C] rs11261280 1 223632045 [T/C] rs6689716 1 223638165 [T/C] rs6685346 1 223641440 [A/G] rs6657657 1 223642646 [T/C] rs6604717 1 223647907 [A/G] rs6691566 1 223648847 [T/G] rs4512640 1 223653362 [T/C] rs10907383 1 223656288 [T/C] rs6690293 1 223663505 [A/G] rs3922892 1 223672283 [A/G] rs4511103 1 223680537 [A/G] rs4421579 1 223690077 [T/C] rs12061221 1 223701097 [T/G] exm151771 1 223716508 [T/C] NM_001143962 CAPN8 EXON Missense_R575Q exm151778 1 223718170 [T/C] NM_001143962 CAPN8 EXON Missense_R517Q newrs34606532 1 223722780 [A/G] NM_001143962 CAPN8 Silent exm151793 1 223724343 [T/A] NM_001143962 CAPN8 EXON Missense_F451L kgp1674489 1 223725513 [A/G] NM_001143962 CAPN8 Silent kgp10056353 1 223726988 [A/G] NM_001143962 CAPN8 Silent exm151794 1 223803680 [T/C] NM_001143962 CAPN8 EXON Missense_V435I rs35164209 1 223806157 [T/C] NM_001143962 CAPN8 Silent exm151802 1 223807079 [T/C] NM_001143962 CAPN8 EXON Missense_E351K exm151810 1 223813586 [T/G] NM_001143962 CAPN8 EXON Missense_S245Y exm151819 1 223816383 [A/G] NM_001143962 CAPN8 EXON Missense_A136V exm151820 1 223816423 [A/G] NM_001143962 CAPN8 EXON Missense_R123W rs17483822 1 223828623 [A/C] NM_001143962 CAPN8 Silent rs9804135 1 223832277 [A/G] NM_001143962 CAPN8 Silent rs2105405 1 223841836 [T/C] NM_001143962 CAPN8 Silent rs6668723 1 223845875 [T/C] NM_001143962 CAPN8 Silent rs6692983 1 223854684 [A/G] rs11587370 1 223869600 [T/G] rs10495214 1 223872494 [T/G] rs6662068 1 223874213 [T/C] rs17556570 1 223878700 [T/C] rs7555491 1 223894889 [A/G] NM_001146068 CAPN2 Silent exm151838 1 223900408 [C/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Silent,Missense_D22E exm151840 1 223900443 [A/C] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Silent,Missense_A34E exm151848 1 223900544 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Silent,Missense_S68G exm151851 1 223900562 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Silent,Missense_E74K rs2186006 1 223901545 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent exm151853 1 223905492 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_I11T,Missense_I89T exm151856 1 223905532 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Synonymous_L24L,Synonymous_L102L rs3738383 1 223905532 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Synonymous_L24L,Synonymous_L102L rs12080565 1 223905833 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent rs6685475 1 223909655 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent rs1419305 1 223912748 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent rs10916646 1 223917907 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent rs12066704 1 223931068 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent variant.10194 1 223931812 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Nonsense_W28X,Nonsense_W106X exm151863 1 223933020 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_G69S,Missense_G147S indel.10196 1 223934726 [I/D] NM_001146068,NM_001748 CAPN2,CAPN2 EXON exm151876 1 223934794 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_K141R,Missense_K219R exm2263871 1 223938565 [A/C] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent exm151882 1 223938625 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_R205C,Missense_R283C exm151884 1 223938665 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_R218Q,Missense_R296Q exm151893 1 223940532 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_R259C,Missense_R337C exm151902 1 223940635 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_A293V,Missense_A371V exm151904 1 223940657 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Synonymous_P300P,Synonymous_P378P exm151925 1 223947060 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_R391Q,Missense_R469Q exm151926 1 223947081 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_K398R,Missense_K476R indel.10205 1 223947151 [D/I] NM_001146068,NM_001748 CAPN2,CAPN2 EXON exm151936 1 223949314 [C/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_E443Q,Missense_E521Q exm151940 1 223949900 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_E449K,Missense_E527K exm2232579 1 223949936 [C/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_A461P,Missense_A539P exm2275328 1 223951879 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Nonsense_Q476X,Nonsense_Q554X variant.10208 1 223951910 [T/G] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent exm151950 1 223954102 [T/A] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_E497V,Missense_E575V variant.10209 1 223958227 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_G557S,Missense_G635S variant.10210 1 223958228 [T/G] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent rs1153952 1 223958547 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent exm151969 1 223959543 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_I568V,Missense_I646V exm151975 1 223959622 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_L594P,Missense_L672P indel.10211 1 223959628 [D/I] NM_001146068,NM_001748 CAPN2,CAPN2 exm151977 1 223959891 [A/C] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_K599Q,Missense_K677Q exm1764190 1 223959906 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_E604K,Missense_E682K indel.10212 1 223959917 [I/D] NM_001146068,NM_001748 CAPN2,CAPN2 EXON variant.10213 1 223959943 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent rs1153947 1 223960536 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent variant.10214 1 223962535 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent rs6678103 1 223966391 [T/C] exm151989 1 223971861 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_R1107C,Missense_R978C exm2250796 1 223980207 [G/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Synonymous_L960L,Synonymous_L831L exm152003 1 223980207 [G/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Synonymous_L960L,Synonymous_L831L exm152005 1 223981097 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_H924Y,Missense_H795Y exm1764213 1 223983687 [T/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_N852D,Missense_N723D exm152015 1 223983695 [T/A] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_N849I,Missense_N720I indel.10215 1 223984186 [I/D] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON exm152024 1 223984248 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_H665Y,Missense_H536Y exm152038 1 223986186 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_L560P,Missense_L431P exm152050 1 223987605 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_A494V,Missense_A365V exm152054 1 223987681 [T/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_V469I,Missense_V340I rs16842257 1 223989022 [T/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 Silent,Silent rs1153933 1 223989966 [T/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Synonymous_S359S,Synonymous_S230S exm152086 1 223990510 [T/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_M307V,Missense_M178V exm152097 1 223991119 [T/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_Q229K,Missense_Q100K variant.10217 1 223991910 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Synonymous_H205H,Synonymous_H76H exm152100 1 223991930 [T/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_V199M,Missense_V70M exm152101 1 223991959 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_A189V,Missense_A60V var_1_223992017 1 223992017 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Nonsense_Q170X,Nonsense_Q41X variant.10219 1 223994583 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Nonsense_Q147X,Nonsense_Q18X exm152117 1 224001984 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_R83C,Silent exm152119 1 224002036 [T/A] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_N65K,Silent exm2250798 1 224002042 [T/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Synonymous_A63A,Silent rs6604725 1 224002329 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 Silent,Silent exm2250799 1 224009058 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Synonymous_T13T,Silent rs2045733 1 224021459 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 Silent,Silent rs1890120 1 224026137 [T/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 Silent,Silent rs7535882 1 224045479 [T/C] rs16842321 1 224046104 [A/G] exm2268837 1 224048645 [T/C] rs6604731 1 224051439 [T/C] rs10915917 1 224058273 [T/G] rs2126389 1 224061898 [A/G] rs723999 1 224063453 [A/G] rs12073545 1 224069384 [T/G] kgp9825018 1 224175032 [T/C] NR_132119 GTF2IP20 Silent rs2488513 1 224216822 [T/G] NR_136593 LOC100287497 EXON Silent rs10916206 1 224237655 [A/C] rs4551564 1 224237716 [A/C] rs6604879 1 224239031 [T/C] rs10916209 1 224240313 [A/G] rs7517868 1 224251666 [A/G] rs7535721 1 224262149 [A/G] rs16848126 1 224263933 [T/C] rs7544572 1 224265217 [T/C] rs6683927 1 224268954 [T/C] rs6663997 1 224275014 [A/G] rs1573185 1 224283064 [T/C] exm1764276 1 224301853 [A/C] NM_001136115,NR_049764,NM_015176 FBXO28,FBXO28,FBXO28 EXON Synonymous_R8R,Silent,Synonymous_R8R rs7546034 1 224307725 [T/C] NM_001136115,NR_049764,NM_015176 FBXO28,FBXO28,FBXO28 Silent,Silent,Silent rs869945 1 224321637 [A/G] NM_001136115,NR_049764,NM_015176 FBXO28,FBXO28,FBXO28 Silent,Silent,Silent rs10916370 1 224336636 [T/G] NM_001136115,NR_049764,NM_015176 FBXO28,FBXO28,FBXO28 Silent,Silent,Silent rs6704386 1 224339094 [T/C] NM_001136115,NR_049764,NM_015176 FBXO28,FBXO28,FBXO28 Silent,Silent,Silent rs10429876 1 224339138 [T/C] NM_001136115,NR_049764,NM_015176 FBXO28,FBXO28,FBXO28 Silent,Silent,Silent exm152143 1 224340881 [A/G] NM_001136115,NR_049764,NM_015176 FBXO28,FBXO28,FBXO28 EXON Silent,Silent,Missense_N185S exm152147 1 224341036 [T/C] NM_001136115,NR_049764,NM_015176 FBXO28,FBXO28,FBXO28 EXON Silent,Silent,Missense_P237S exm152149 1 224345067 [T/C] NM_001136115,NR_049764,NM_015176 FBXO28,FBXO28,FBXO28 EXON Missense_L177P,Silent,Synonymous_S242S rs12239466 1 224345793 [T/C] NM_001136115,NR_049764,NM_015176 FBXO28,FBXO28,FBXO28 EXON Silent,Silent,Silent rs8328 1 224346959 [A/G] NM_001136115,NR_049764,NM_015176 FBXO28,FBXO28,FBXO28 EXON Silent,Silent,Silent exm2264957 1 224360892 [A/G] rs16844819 1 224360933 [T/G] exm152161 1 224371065 [A/C] NM_001321541,NM_003676 DEGS1,DEGS1 EXON Missense_D9E,Missense_D9E exm152165 1 224377389 [A/G] NM_001321541,NM_003676,NM_001321542 DEGS1,DEGS1,DEGS1 EXON Missense_D65N,Missense_D65N,Missense_D29N exm1764286 1 224377720 [T/A] NM_001321541,NM_003676,NM_001321542 DEGS1,DEGS1,DEGS1 EXON Missense_L175Q,Missense_L175Q,Missense_L139Q exm152189 1 224377959 [T/A] NM_001321541,NM_003676,NM_001321542 DEGS1,DEGS1,DEGS1 EXON Missense_N255Y,Missense_N255Y,Missense_N219Y exm152190 1 224377996 [A/G] NM_001321541,NM_003676,NM_001321542 DEGS1,DEGS1,DEGS1 EXON Missense_N267S,Missense_N267S,Missense_N231S exm152192 1 224380094 [C/G] NM_001321541,NM_003676,NM_001321542 DEGS1,DEGS1,DEGS1 EXON Silent,Missense_V296L,Missense_V260L rs908803 1 224381107 [T/C] NM_001321541,NM_003676,NM_001321542 DEGS1,DEGS1,DEGS1 EXON Silent,Silent,Silent rs12022755 1 224387749 [T/C] rs2139155 1 224396044 [A/G] rs6685440 1 224397220 [T/C] NR_110669 LOC101927143 Silent rs2011117 1 224398639 [T/C] NR_110669 LOC101927143 Silent rs10495222 1 224403769 [A/G] rs10799541 1 224411596 [A/G] NR_110668 LOC101927164 Silent exm152200 1 224415342 [A/G] NR_110668,NM_001243146,NM_002533,NM_001243147,NM_206840 LOC101927164,NVL,NVL,NVL,NVL EXON Silent,Missense_S664P,Missense_S853P,Missense_S762P,Missense_S747P exm152202 1 224418939 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_I650V,Missense_I839V,Missense_I748V,Missense_I733V exm152211 1 224424239 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_I590V,Missense_I779V,Missense_I688V,Missense_I673V exm152214 1 224437967 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_V557M,Missense_V746M,Missense_V655M,Missense_V640M exm152216 1 224438009 [A/G] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_P543S,Missense_P732S,Missense_P641S,Missense_P626S rs6682667 1 224454099 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL Silent,Silent,Silent,Silent exm152221 1 224455754 [G/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_A533P,Missense_A722P,Missense_A631P,Missense_A616P variant.10221 1 224455820 [A/G] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Nonsense_R511X,Nonsense_R700X,Nonsense_R609X,Nonsense_R594X rs16845729 1 224459338 [A/G] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL Silent,Silent,Silent,Silent variant.10222 1 224463039 [A/G] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL Silent,Silent,Silent,Silent exm152228 1 224463118 [A/G] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Nonsense_R480X,Nonsense_R669X,Nonsense_R578X,Nonsense_R563X exm152231 1 224468829 [T/G] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_N464T,Missense_N653T,Missense_N562T,Missense_N547T exm152232 1 224468857 [T/G] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_I455L,Missense_I644L,Missense_I553L,Missense_I538L exm152237 1 224468878 [T/G] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_N448H,Missense_N637H,Missense_N546H,Missense_N531H exm152256 1 224477200 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_T332A,Missense_T521A,Missense_T430A,Missense_T415A exm152266 1 224482084 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_V215I,Missense_V404I,Missense_V313I,Missense_V298I exm1764325 1 224484278 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_I180V,Missense_I369V,Missense_I278V,Missense_I263V indel.10223 1 224488322 [I/D] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON exm152274 1 224488334 [C/G] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_A142G,Missense_A331G,Missense_A240G,Missense_A225G variant.10224 1 224491427 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_G104R,Missense_G320R,Missense_G229R,Missense_G214R exm152276 1 224491438 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_H100R,Missense_H316R,Missense_H225R,Missense_H210R exm152279 1 224491502 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_V79I,Missense_V295I,Missense_V204I,Missense_V189I exm1764335 1 224492479 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_V46M,Missense_V262M,Missense_V171M,Missense_V156M variant.10225 1 224492734 [A/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL Silent,Silent,Silent,Silent exm152285 1 224492744 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_Q31R,Missense_Q247R,Missense_Q156R,Missense_Q141R exm152287 1 224492783 [A/T] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_D18V,Missense_D234V,Missense_D143V,Missense_D128V exm152289 1 224492829 [A/G] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Missense_R3W,Missense_R219W,Missense_R128W,Missense_R113W rs2001890 1 224494670 [T/G] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL Silent,Silent,Silent,Silent var_1_224495692 1 224495692 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL Silent,Silent,Silent,Silent exm152292 1 224495698 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Silent,Missense_I204V,Silent,Missense_I98V exm152293 1 224495707 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Silent,Missense_I201V,Silent,Missense_I95V rs7534447 1 224495852 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Silent,Synonymous_R152R,Silent,Synonymous_R46R exm152298 1 224495853 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Silent,Missense_R152Q,Silent,Missense_R46Q exm152299 1 224495905 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Silent,Missense_V135I,Silent,Missense_V29I exm152300 1 224495925 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Silent,Missense_R128Q,Silent,Missense_R22Q variant.10228 1 224495927 [A/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Silent,Nonsense_Y127X,Silent,Nonsense_Y21X indel.10229 1 224495931 [I/D] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON variant.10230 1 224499502 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Silent,Synonymous_Q114Q,Synonymous_Q114Q,Synonymous_Q8Q var_1_224505394 1 224505394 [D/I] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL rs6426110 1 224511533 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL Silent,Silent,Silent,Silent exm152314 1 224517810 [T/C] NM_001243146,NM_002533,NM_001243147,NM_206840 NVL,NVL,NVL,NVL EXON Silent,Missense_G7E,Missense_G7E,Silent rs7534101 1 224531559 [T/C] exm-rs11579964 1 224538940 [T/C] rs4653584 1 224541645 [A/G] rs7517754 1 224544529 [A/G] NR_102347,NM_001277197,NM_001277200,NM_001277198,NM_001277199,NM_014184 CNIH4,CNIH4,CNIH4,CNIH4,CNIH4,CNIH4 EXON Silent,Silent,Silent,Silent,Silent,Silent exm1764358 1 224544634 [C/G] NR_102347,NM_001277197,NM_001277200,NM_001277198,NM_001277199,NM_014184 CNIH4,CNIH4,CNIH4,CNIH4,CNIH4,CNIH4 EXON Silent,Missense_A3G,Missense_A3G,Missense_A3G,Silent,Missense_A3G exm152319 1 224544642 [T/G] NR_102347,NM_001277197,NM_001277200,NM_001277198,NM_001277199,NM_014184 CNIH4,CNIH4,CNIH4,CNIH4,CNIH4,CNIH4 EXON Silent,Missense_F6V,Missense_F6V,Missense_F6V,Silent,Missense_F6V exm152327 1 224553602 [A/G] NR_102347,NM_001277197,NM_001277200,NM_001277198,NM_001277199,NM_014184 CNIH4,CNIH4,CNIH4,CNIH4,CNIH4,CNIH4 EXON Silent,Missense_G54S,Missense_G54S,Missense_G54S,Silent,Missense_G54S indel.10233 1 224553631 [I/D] NR_102347,NM_001277197,NM_001277200,NM_001277198,NM_001277199,NM_014184 CNIH4,CNIH4,CNIH4,CNIH4,CNIH4,CNIH4 EXON exm1764362 1 224553693 [A/G] NR_102347,NM_001277197,NM_001277200,NM_001277198,NM_001277199,NM_014184 CNIH4,CNIH4,CNIH4,CNIH4,CNIH4,CNIH4 EXON Silent,Missense_R84H,Missense_R84Q,Missense_R84Q,Missense_R21Q,Missense_R84Q variant.10235 1 224559127 [T/C] NR_102347,NM_001277197,NM_001277200,NM_001277198,NM_001277199,NM_014184 CNIH4,CNIH4,CNIH4,CNIH4,CNIH4,CNIH4 Silent,Silent,Silent,Silent,Silent,Silent exm152335 1 224563498 [A/G] NR_102347,NM_001277197,NM_001277200,NM_001277198,NM_001277199,NM_014184 CNIH4,CNIH4,CNIH4,CNIH4,CNIH4,CNIH4 EXON Silent,Missense_M85V,Silent,Silent,Missense_M69V,Missense_M132V exm152336 1 224563504 [T/G] NR_102347,NM_001277197,NM_001277200,NM_001277198,NM_001277199,NM_014184 CNIH4,CNIH4,CNIH4,CNIH4,CNIH4,CNIH4 EXON Silent,Missense_L87V,Silent,Silent,Missense_L71V,Missense_L134V rs11809710 1 224575874 [A/C] NM_001115113,NM_025160 WDR26,WDR26 EXON Silent,Silent exm152343 1 224581604 [A/G] NM_001115113,NM_025160 WDR26,WDR26 EXON Missense_M613T,Missense_M629T rs10799573 1 224625075 [T/C] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2404785 1 224659778 [A/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10916625 1 224682884 [A/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1891243 1 224687445 [A/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6695773 1 224704236 [T/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7550648 1 224707177 [T/C] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs712068 1 224713564 [A/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs698279 1 224733066 [T/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16841702 1 224753137 [T/C] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6426142 1 224768252 [T/C] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4654049 1 224772910 [T/C] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1532557 1 224805112 [T/C] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9919286 1 224806976 [A/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs883115 1 224807561 [T/C] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs880496 1 224808134 [T/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6661853 1 224820448 [A/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2250804 1 224821550 [T/C] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10799590 1 224822482 [A/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12130499 1 224836514 [T/C] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1499282 1 224848250 [A/C] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs791014 1 224850980 [T/C] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1337538 1 224854784 [A/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm152395 1 224868682 [C/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 EXON Silent,Silent,Silent,Missense_R63T,Silent,Silent,Missense_R17T,Silent,Missense_R41T,Silent,Silent,Silent,Silent,Missense_R35T,Missense_R35T,Silent exm152397 1 224868724 [A/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 EXON Silent,Silent,Silent,Missense_H77R,Silent,Silent,Missense_H31R,Silent,Missense_H55R,Silent,Silent,Silent,Silent,Missense_H49R,Missense_H49R,Silent rs3738364 1 224872443 [A/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10915695 1 224874931 [T/C] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12025142 1 224876101 [A/C] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7543218 1 224879577 [A/C] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6696394 1 224880533 [T/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs879363 1 224880653 [T/C] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1436171 1 224881828 [A/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9725216 1 224886492 [T/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6675980 1 224898863 [T/C] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs892975 1 224900110 [T/C] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6690131 1 224903823 [A/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12741660 1 224906158 [A/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1561109 1 224906444 [T/C] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1010735 1 224915429 [T/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16853130 1 224916593 [A/G] NR_136288,NR_136290,NR_136289,NM_001322302,NR_136292,NR_136297,NM_001322304,NR_136291,NM_001322303,NR_136295,NR_136294,NR_136293,NR_136296,NM_001322305,NM_152495,NR_136287 CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3,CNIH3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6674873 1 224930810 [T/C] rs2574881 1 224966644 [A/G] rs2802559 1 224971229 [A/G] rs2802745 1 224987113 [A/G] rs12081821 1 224991534 [A/G] rs11810181 1 225008581 [T/C] rs3856143 1 225026240 [A/C] rs10915732 1 225038158 [A/C] rs1892123 1 225044284 [A/G] rs12132342 1 225051515 [T/G] rs2244113 1 225062793 [A/G] rs2051158 1 225067331 [T/C] rs1936635 1 225090870 [A/C] rs2501082 1 225106597 [T/C] rs2449272 1 225117013 [A/C] rs2128268 1 225137134 [A/G] NM_144989,NM_001373,NM_001349911,NM_001349912,NM_001145154 DNAH14,DNAH14,DNAH14,DNAH14,DNAH14 Silent,Silent,Silent,Silent,Silent exm152422 1 225140459 [T/G] NM_144989,NM_001373,NM_001349911,NM_001349912,NM_001145154 DNAH14,DNAH14,DNAH14,DNAH14,DNAH14 EXON Nonsense_E19X,Nonsense_E19X,Nonsense_E19X,Nonsense_E19X,Nonsense_E19X variant.10244 1 225142688 [T/G] NM_144989,NM_001373,NM_001349911,NM_001349912,NM_001145154 DNAH14,DNAH14,DNAH14,DNAH14,DNAH14 EXON Nonsense_Y35X,Nonsense_Y35X,Nonsense_Y35X,Nonsense_Y35X,Nonsense_Y35X exm152427 1 225142710 [A/T] NM_144989,NM_001373,NM_001349911,NM_001349912,NM_001145154 DNAH14,DNAH14,DNAH14,DNAH14,DNAH14 EXON Missense_T43S,Missense_T43S,Missense_T43S,Missense_T43S,Missense_T43S variant.10246 1 225147881 [T/C] NM_144989,NM_001373,NM_001349911,NM_001349912,NM_001145154 DNAH14,DNAH14,DNAH14,DNAH14,DNAH14 EXON Nonsense_Q82X,Nonsense_Q82X,Nonsense_Q82X,Silent,Nonsense_Q82X indel.10247 1 225147925 [I/D] NM_144989,NM_001373,NM_001349911,NM_001349912,NM_001145154 DNAH14,DNAH14,DNAH14,DNAH14,DNAH14 EXON exm152430 1 225147932 [A/G] NM_144989,NM_001373,NM_001349911,NM_001349912,NM_001145154 DNAH14,DNAH14,DNAH14,DNAH14,DNAH14 EXON Missense_R99G,Missense_R99G,Missense_R99G,Silent,Missense_R99G exm152433 1 225147993 [A/G] NM_144989,NM_001373,NM_001349911,NM_001349912,NM_001145154 DNAH14,DNAH14,DNAH14,DNAH14,DNAH14 EXON Missense_Y119C,Missense_Y119C,Missense_Y119C,Silent,Missense_Y119C exm152436 1 225152222 [T/C] NM_144989,NM_001373,NM_001349911,NM_001349912,NM_001145154 DNAH14,DNAH14,DNAH14,DNAH14,DNAH14 EXON Nonsense_R137X,Nonsense_R137X,Nonsense_R137X,Nonsense_R87X,Nonsense_R137X exm152438 1 225152253 [T/C] NM_144989,NM_001373,NM_001349911,NM_001349912,NM_001145154 DNAH14,DNAH14,DNAH14,DNAH14,DNAH14 EXON Missense_P147L,Missense_P147L,Missense_P147L,Missense_P97L,Missense_P147L exm152440 1 225152273 [A/G] NM_144989,NM_001373,NM_001349911,NM_001349912,NM_001145154 DNAH14,DNAH14,DNAH14,DNAH14,DNAH14 EXON Missense_G154R,Missense_G154R,Missense_G154R,Missense_G104R,Missense_G154R exm152441 1 225152289 [T/C] NM_144989,NM_001373,NM_001349911,NM_001349912,NM_001145154 DNAH14,DNAH14,DNAH14,DNAH14,DNAH14 EXON Missense_A159V,Missense_A159V,Missense_A159V,Missense_A109V,Missense_A159V exm152442 1 225152298 [A/T] NM_144989,NM_001373,NM_001349911,NM_001349912,NM_001145154 DNAH14,DNAH14,DNAH14,DNAH14,DNAH14 EXON Missense_K162M,Missense_K162M,Missense_K162M,Missense_K112M,Missense_K162M rs12023087 1 225152505 [A/G] NM_144989,NM_001373,NM_001349911,NM_001349912,NM_001145154 DNAH14,DNAH14,DNAH14,DNAH14,DNAH14 Silent,Silent,Silent,Silent,Silent exm152446 1 225155176 [A/G] NM_144989,NM_001373,NM_001349911,NM_001349912,NM_001145154 DNAH14,DNAH14,DNAH14,DNAH14,DNAH14 EXON Missense_R181Q,Missense_R181Q,Missense_R181Q,Missense_R131Q,Missense_R181Q variant.10250 1 225155218 [T/G] NM_144989,NM_001373,NM_001349911,NM_001349912,NM_001145154 DNAH14,DNAH14,DNAH14,DNAH14,DNAH14 EXON Missense_V195G,Missense_V195G,Silent,Missense_V145G,Missense_V195G exm152451 1 225155286 [A/G] NM_144989,NM_001373,NM_001349911,NM_001349912,NM_001145154 DNAH14,DNAH14,DNAH14,DNAH14,DNAH14 Silent,Silent,Silent,Silent,Silent exm152452 1 225155380 [A/G] NM_144989,NM_001373,NM_001349911,NM_001349912,NM_001145154 DNAH14,DNAH14,DNAH14,DNAH14,DNAH14 Silent,Silent,Silent,Silent,Silent exm2260020 1 225178198 [T/C] NM_001373,NM_001349911,NM_001145154 DNAH14,DNAH14,DNAH14 Silent,Silent,Silent exm152462 1 225190571 [T/C] NM_001373,NM_001349911,NM_001145154 DNAH14,DNAH14,DNAH14 EXON Missense_I306T,Missense_I283T,Missense_I306T rs2449276 1 225206826 [A/G] NM_001373,NM_001349911,NM_001145154 DNAH14,DNAH14,DNAH14 Silent,Silent,Silent exm152470 1 225211422 [T/C] NM_001373,NM_001349911,NM_001145154 DNAH14,DNAH14,DNAH14 EXON Missense_F405L,Missense_F382L,Missense_F405L rs10399941 1 225215123 [A/G] NM_001373 DNAH14 Silent exm2232594 1 225226478 [A/C] NM_001373 DNAH14 EXON Missense_I481L exm2232595 1 225230786 [T/A] NM_001373 DNAH14 EXON Missense_I580F rs1506074 1 225232264 [T/G] NM_001373 DNAH14 Silent exm152474 1 225237950 [A/G] NM_001373 DNAH14 EXON Missense_I651V indel.10256 1 225266940 [D/I] NM_001373 DNAH14 EXON variant.10257 1 225267041 [T/C] NM_001373 DNAH14 EXON Nonsense_Q853X exm152486 1 225267066 [A/G] NM_001373 DNAH14 EXON Missense_H861R exm152491 1 225268106 [A/C] NM_001373 DNAH14 EXON Missense_A931D exm152493 1 225268294 [A/G] NM_001373 DNAH14 EXON Missense_G994S exm152494 1 225268343 [A/G] NM_001373 DNAH14 EXON Missense_K1010R exm152502 1 225270409 [A/T] NM_001373 DNAH14 EXON Missense_N1099Y exm152504 1 225273248 [T/G] NM_001373 DNAH14 EXON Missense_M1110I indel.10260 1 225284866 [D/I] NM_001373 DNAH14 EXON rs4275419 1 225287476 [T/C] NM_001373 DNAH14 Silent exm152511 1 225288534 [A/C] NM_001373 DNAH14 EXON Missense_E1272A rs16844324 1 225327612 [A/G] NM_001373 DNAH14 Silent exm152522 1 225328432 [T/G] NM_001373 DNAH14 Silent exm152529 1 225332296 [C/G] NM_001373 DNAH14 EXON Missense_T1552R newrs80023327 1 225334919 [I/D] NM_001373 DNAH14 EXON rs1842332 1 225340241 [T/C] NM_001373 DNAH14 Silent exm152536 1 225340410 [A/G] NM_001373 DNAH14 EXON Missense_G1657E exm152541 1 225341473 [A/G] NM_001373 DNAH14 EXON Missense_R1723G variant.10266 1 225347015 [A/G] NM_001373 DNAH14 Silent exm152546 1 225373072 [T/C] NM_001373 DNAH14 EXON Missense_T1850M variant.10269 1 225373128 [A/G] NM_001373 DNAH14 Silent rs1572750 1 225380088 [A/G] NM_001373 DNAH14 Silent exm152551 1 225380398 [A/G] NM_001373 DNAH14 EXON Missense_I1869V exm152555 1 225380603 [A/C] NM_001373 DNAH14 EXON Missense_D1937A rs9803691 1 225391396 [A/G] NM_001373 DNAH14 Silent exm152562 1 225394812 [A/G] NM_001373 DNAH14 EXON Missense_R2088H rs649637 1 225410051 [T/C] NM_001373 DNAH14 Silent rs664855 1 225419456 [T/C] NM_001373 DNAH14 Silent rs584720 1 225427066 [A/G] NM_001373 DNAH14 Silent 1KG_1_225428339 1 225428339 [I/D] NM_001373 DNAH14 EXON rs627414 1 225442953 [A/G] NM_001373 DNAH14 Silent variant.10273 1 225446910 [A/C] NM_001373 DNAH14 EXON Nonsense_S2365X rs12564045 1 225449050 [A/G] NM_001373 DNAH14 Silent exm152583 1 225452967 [A/G] NM_001373 DNAH14 EXON Missense_I2430V exm152585 1 225452983 [A/G] NM_001373 DNAH14 EXON Missense_N2435S 1KG_1_225458504 1 225458504 [I/D] NM_001373 DNAH14 EXON indel.10274 1 225458505 [I/D] NM_001373 DNAH14 EXON exm152596 1 225459761 [T/C] NM_001373 DNAH14 EXON Nonsense_R2603X rs6696665 1 225471048 [T/C] NM_001373 DNAH14 Silent rs11587822 1 225474997 [T/G] NM_001373 DNAH14 Silent rs12042076 1 225477546 [A/C] NM_001373 DNAH14 Silent exm152614 1 225490915 [T/C] NM_001373 DNAH14 EXON Missense_R2804C exm152619 1 225492710 [T/C] NM_001373 DNAH14 EXON Missense_T2882I rs12035153 1 225493668 [T/C] NM_001373 DNAH14 Silent rs685029 1 225494218 [T/C] NM_001373 DNAH14 Silent exm152622 1 225495188 [A/G] NM_001373 DNAH14 EXON Missense_T2918A exm2250810 1 225495697 [A/G] NM_001373 DNAH14 Silent rs12403278 1 225506427 [A/G] NM_001373 DNAH14 Silent variant.10278 1 225512438 [A/G] NM_001373 DNAH14 Silent exm152635 1 225512481 [A/G] NM_001373 DNAH14 EXON Missense_V3131I rs17521900 1 225516861 [A/C] NM_001373 DNAH14 Silent exm152638 1 225519212 [A/G] NM_001373 DNAH14 EXON Missense_R3173Q exm2232600 1 225519233 [T/G] NM_001373 DNAH14 EXON Missense_R3180L rs12036489 1 225520212 [T/C] NM_001373 DNAH14 Silent exm152640 1 225521101 [G/C] NM_001373 DNAH14 EXON Missense_E3232Q exm152649 1 225525139 [A/G] NM_001373 DNAH14 EXON Missense_S3325G exm152653 1 225525864 [C/G] NM_001373 DNAH14 EXON Missense_F3378L exm152659 1 225528340 [T/C] NM_001373 DNAH14 EXON Missense_L3446F rs12728785 1 225528665 [A/G] NM_001373 DNAH14 Silent exm152660 1 225533684 [A/G] NM_001373 DNAH14 EXON Missense_K3474E exm152664 1 225533739 [G/C] NM_001373 DNAH14 EXON Missense_R3492P exm152666 1 225533861 [A/G] NM_001373 DNAH14 EXON Missense_M3533V indel.10283 1 225534218 [D/I] NM_001373 DNAH14 EXON exm152672 1 225534219 [T/C] NM_001373 DNAH14 EXON Missense_V3627A rs7527925 1 225534219 [T/C] NM_001373 DNAH14 EXON Missense_V3627A exm152674 1 225534324 [T/C] NM_001373 DNAH14 EXON Missense_I3662T exm152676 1 225534348 [A/G] NM_001373 DNAH14 EXON Missense_R3670K rs16844752 1 225535308 [A/G] NM_001373 DNAH14 Silent rs12134319 1 225535592 [A/G] NM_001373 DNAH14 Silent exm152677 1 225539363 [A/G] NM_001373 DNAH14 EXON Missense_G3678S rs3913654 1 225540026 [T/C] NM_001373 DNAH14 Silent rs6693582 1 225548126 [A/G] NM_001373 DNAH14 Silent exm152694 1 225555602 [T/G] NM_001373 DNAH14 EXON Missense_N3969K rs12737248 1 225555602 [T/G] NM_001373 DNAH14 EXON Missense_N3969K exm152695 1 225555679 [A/G] NM_001373 DNAH14 EXON Missense_N3995S exm152701 1 225562475 [T/C] NM_001373 DNAH14 EXON Missense_I4042T exm152704 1 225565015 [T/C] NM_001373 DNAH14 EXON Missense_L4096P indel.10286 1 225565048 [D/I] NM_001373 DNAH14 EXON exm152707 1 225567870 [T/G] NM_001373 DNAH14 EXON Missense_Q4140H exm152709 1 225569094 [T/C] NM_001373 DNAH14 EXON Missense_P4195L variant.10287 1 225569141 [T/C] NM_001373 DNAH14 EXON Nonsense_R4211X rs950210 1 225569241 [T/G] NM_001373 DNAH14 EXON Missense_F4244C exm152714 1 225569241 [T/G] NM_001373 DNAH14 EXON Missense_F4244C indel.10288 1 225569248 [I/D] NM_001373 DNAH14 EXON rs3949347 1 225582816 [A/G] NM_001373 DNAH14 Silent exm152729 1 225586807 [A/G] NM_001373 DNAH14 EXON Missense_A4462T exm152731 1 225586901 [A/C] NM_001373 DNAH14 EXON Nonsense_S4493X exm152734 1 225586971 [A/T] NM_001373 DNAH14 EXON Missense_X4516Y exm152747 1 225592184 [A/C] NM_194442,NM_002296 LBR,LBR EXON Missense_S537A,Missense_S537A exm1764566 1 225592364 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_A510T,Missense_A510T variant.10290 1 225594366 [A/G] NM_194442,NM_002296 LBR,LBR EXON Missense_L495F,Missense_L495F exm152754 1 225594450 [A/T] NM_194442,NM_002296 LBR,LBR EXON Missense_I467F,Missense_I467F exm2273749 1 225594518 [T/G] NM_194442,NM_002296 LBR,LBR EXON Missense_T444N,Missense_T444N exm152763 1 225598018 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_Y430C,Missense_Y430C exm152767 1 225598070 [A/G] NM_194442,NM_002296 LBR,LBR EXON Missense_R413C,Missense_R413C exm2265085 1 225598675 [A/G] NM_194442,NM_002296 LBR,LBR Silent,Silent var_1_225599113 1 225599113 [A/G] NM_194442,NM_002296 LBR,LBR EXON Missense_R372C,Missense_R372C exm152771 1 225599113 [A/G] NM_194442,NM_002296 LBR,LBR EXON Missense_R372C,Missense_R372C exm152775 1 225600183 [A/G] NM_194442,NM_002296 LBR,LBR EXON Missense_R353W,Missense_R353W exm152778 1 225600245 [A/G] NM_194442,NM_002296 LBR,LBR EXON Missense_A332V,Missense_A332V exm2232603 1 225600309 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_T311A,Missense_T311A exm152785 1 225600341 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_Y300C,Missense_Y300C exm152790 1 225603006 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_G289E,Missense_G289E exm152801 1 225605777 [T/G] NM_194442,NM_002296 LBR,LBR EXON Missense_A249D,Missense_A249D exm152802 1 225605780 [A/G] NM_194442,NM_002296 LBR,LBR EXON Missense_P248L,Missense_P248L exm152811 1 225607043 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_V188I,Missense_V188I exm152816 1 225607144 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_S154N,Missense_S154N rs2230419 1 225607144 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_S154N,Missense_S154N variant.10292 1 225607502 [T/G] NM_194442,NM_002296 LBR,LBR Silent,Silent exm152827 1 225609874 [A/G] NM_194442,NM_002296 LBR,LBR EXON Missense_P91S,Missense_P91S exm152830 1 225609909 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_R79Q,Missense_R79Q exm152838 1 225611681 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_T33A,Missense_T33A exm152842 1 225611735 [A/G] NM_194442,NM_002296 LBR,LBR EXON Nonsense_R15X,Nonsense_R15X rs11588279 1 225613976 [T/C] NM_194442,NM_002296 LBR,LBR Silent,Silent rs2066233 1 225618159 [A/G] rs4653637 1 225624016 [A/G] rs880434 1 225624635 [A/G] rs10799312 1 225653150 [A/G] rs7515963 1 225665284 [T/C] rs10915840 1 225668524 [A/G] rs10799318 1 225672596 [T/G] exm152846 1 225685482 [T/C] NM_018212,NM_001008493 ENAH,ENAH EXON Missense_A570T,Missense_A591T exm152850 1 225688725 [A/G] NM_018212,NM_001008493 ENAH,ENAH EXON Missense_T529M,Missense_T550M rs1891000 1 225689665 [T/C] NM_018212,NM_001008493 ENAH,ENAH Silent,Silent exm152863 1 225700618 [G/C] NM_018212,NM_001008493 ENAH,ENAH EXON Missense_G440A,Missense_G440A exm2250812 1 225702574 [T/G] NM_018212,NM_001008493 ENAH,ENAH EXON Synonymous_P314P,Synonymous_P314P exm152892 1 225702588 [A/G] NM_018212,NM_001008493 ENAH,ENAH EXON Missense_P310S,Missense_P310S exm152906 1 225706908 [A/G] NM_018212,NM_001008493 ENAH,ENAH EXON Missense_S265L,Missense_S265L exm152921 1 225707058 [T/C] NM_018212,NM_001008493 ENAH,ENAH EXON Missense_R215H,Missense_R215H exm152922 1 225707059 [A/G] NM_018212,NM_001008493 ENAH,ENAH EXON Missense_R215C,Missense_R215C rs712062 1 225756293 [T/G] NM_018212,NM_001008493 ENAH,ENAH Silent,Silent rs16845098 1 225781165 [T/C] NM_018212,NM_001008493 ENAH,ENAH Silent,Silent rs7515673 1 225801554 [T/C] NM_018212,NM_001008493 ENAH,ENAH Silent,Silent rs1075364 1 225815635 [T/C] NM_018212,NM_001008493 ENAH,ENAH Silent,Silent rs2639712 1 225842940 [T/C] rs7519220 1 225863345 [A/G] rs2769685 1 225872632 [T/C] rs2615060 1 225873612 [A/C] rs902959 1 225885157 [T/C] rs2615066 1 225889445 [T/C] rs9943197 1 225890232 [A/G] rs6701838 1 225894423 [T/G] rs12044217 1 225902582 [T/C] rs12081218 1 225903098 [A/G] rs6694179 1 225914541 [T/G] rs4653662 1 225921655 [T/C] rs10799322 1 225928538 [A/C] rs2615074 1 225933475 [A/G] rs11588772 1 225944165 [T/C] rs2126345 1 225944658 [T/G] rs1557092 1 225955919 [T/C] rs6685014 1 225958857 [A/C] rs6677132 1 225967597 [A/C] NM_001130440,NM_003133 SRP9,SRP9 Silent,Silent rs17571004 1 225969031 [T/C] NM_001130440,NM_003133 SRP9,SRP9 Silent,Silent rs12568108 1 225973777 [T/C] NM_001130440,NM_003133 SRP9,SRP9 Silent,Silent rs12031296 1 225975271 [A/G] NM_001130440,NM_003133 SRP9,SRP9 Silent,Silent rs10737420 1 225997070 [A/G] kgp15328133 1 225997826 [A/G] NM_001136018 EPHX1 EXON Silent rs2854451 1 226012614 [A/G] NM_001136018,NM_001291163 EPHX1,EPHX1 Silent,Silent rs3753658 1 226012686 [T/G] NM_001136018,NM_001291163 EPHX1,EPHX1 Silent,Silent rs3738039 1 226013037 [T/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Silent,Silent,Silent kgp12212294 1 226013041 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Silent,Silent,Silent kgp25084949 1 226013072 [T/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Silent,Silent,Silent rs3753661 1 226014342 [T/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 Silent,Silent,Silent rs2671272 1 226015116 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 Silent,Silent,Silent variant.10296 1 226016531 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Nonsense_W34X,Nonsense_W34X,Nonsense_W34X exm152977 1 226016551 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_A41T,Missense_A41T,Missense_A41T kgp25117122 1 226016558 [C/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_R43T,Missense_R43T,Missense_R43T exm152979 1 226016575 [T/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_R49C,Missense_R49C,Missense_R49C exm152980 1 226016593 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_T55A,Missense_T55A,Missense_T55A rs2234698 1 226019500 [T/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Synonymous_D68D,Synonymous_D68D,Synonymous_D68D kgp15304712 1 226019508 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_R71H,Missense_R71H,Missense_R71H exm152986 1 226019508 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_R71H,Missense_R71H,Missense_R71H kgp25017445 1 226019527 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Synonymous_E77E,Synonymous_E77E,Synonymous_E77E exm152988 1 226019542 [G/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_H82Q,Missense_H82Q,Missense_H82Q rs4986931 1 226019586 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Nonsense_W97X,Nonsense_W97X,Nonsense_W97X exm152994 1 226019633 [T/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_Y113H,Missense_Y113H,Missense_Y113H rs1051740 1 226019633 [T/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_Y113H,Missense_Y113H,Missense_Y113H exm152995 1 226019646 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_K117R,Missense_K117R,Missense_K117R rs2292566 1 226019653 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Synonymous_K119K,Synonymous_K119K,Synonymous_K119K exm2250814 1 226020988 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 Silent,Silent,Silent rs2740168 1 226020988 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 Silent,Silent,Silent exm153002 1 226026377 [A/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_H129Q,Missense_H129Q,Missense_H129Q exm2232609 1 226026405 [T/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_H139Y,Missense_H139Y,Missense_H139Y rs2234922 1 226026406 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_H139R,Missense_H139R,Missense_H139R exm153011 1 226026513 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_E175K,Missense_E175K,Missense_E175K exm153012 1 226026573 [T/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_S195P,Missense_S195P,Missense_S195P exm153020 1 226027029 [T/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_M235T,Missense_M235T,Missense_M235T kgp3413831 1 226027548 [T/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Synonymous_H247H,Synonymous_H247H,Synonymous_H247H kgp15134038 1 226027569 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Synonymous_L254L,Synonymous_L254L,Synonymous_L254L kgp3917924 1 226027575 [A/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_N256K,Missense_N256K,Missense_N256K exm153025 1 226027575 [A/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_N256K,Missense_N256K,Missense_N256K kgp25126874 1 226027630 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_T275A,Missense_T275A,Missense_T275A exm1764694 1 226027630 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_T275A,Missense_T275A,Missense_T275A kgp3258229 1 226027659 [T/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Synonymous_P284P,Synonymous_P284P,Synonymous_P284P exm153035 1 226027735 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_V310I,Missense_V310I,Missense_V310I rs1051741 1 226032229 [T/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Synonymous_N357N,Synonymous_N357N,Synonymous_N357N rs2137841 1 226032319 [A/T] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_H387Q,Missense_H387Q,Missense_H387Q rs4149227 1 226032530 [A/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 Silent,Silent,Silent kgp15622455 1 226032896 [T/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Synonymous_L406L,Synonymous_L406L,Synonymous_L406L exm153048 1 226032903 [T/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_T408M,Missense_T408M,Missense_T408M kgp15192995 1 226032919 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Synonymous_V413V,Synonymous_V413V,Synonymous_V413V rs4149229 1 226032928 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Synonymous_K416K,Synonymous_K416K,Synonymous_K416K kgp15452835 1 226032928 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Synonymous_K416K,Synonymous_K416K,Synonymous_K416K exm153052 1 226032962 [T/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_R428C,Missense_R428C,Missense_R428C rs4149230 1 226033030 [C/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Synonymous_S450S,Synonymous_S450S,Synonymous_S450S exm153058 1 226033041 [A/G] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Missense_R454Q,Missense_R454Q,Missense_R454Q rs4653695 1 226033083 [A/C] NM_001136018,NM_001291163,NM_000120 EPHX1,EPHX1,EPHX1 EXON Silent,Silent,Silent kgp7100095 1 226033663 [T/C] NM_014698 TMEM63A EXON Silent rs2740174 1 226033969 [A/G] NM_014698 TMEM63A EXON Silent kgp9339900 1 226034182 [T/C] NM_014698 TMEM63A EXON Silent kgp15420551 1 226034375 [A/G] NM_014698 TMEM63A EXON Silent exm153064 1 226034787 [A/G] NM_014698 TMEM63A EXON Missense_A793V kgp9612428 1 226034909 [A/G] NM_014698 TMEM63A EXON Synonymous_Y752Y exm153075 1 226034913 [A/G] NM_014698 TMEM63A EXON Missense_P751L exm153083 1 226037614 [G/C] NM_014698 TMEM63A EXON Synonymous_L690L exm153086 1 226037685 [T/C] NM_014698 TMEM63A EXON Missense_A667T exm153088 1 226037727 [T/C] NM_014698 TMEM63A EXON Missense_V653I exm153089 1 226037778 [C/G] NM_014698 TMEM63A EXON Missense_L636V rs10915886 1 226037887 [T/G] NM_014698 TMEM63A Silent exm153091 1 226040373 [A/G] NM_014698 TMEM63A EXON Missense_A632V exm153092 1 226040388 [A/G] NM_014698 TMEM63A EXON Missense_T627I exm153094 1 226040404 [T/C] NM_014698 TMEM63A EXON Missense_V622M exm1764728 1 226041346 [T/C] NM_014698 TMEM63A EXON Missense_R594H exm153100 1 226041377 [A/G] NM_014698 TMEM63A EXON Missense_R584C exm153111 1 226043614 [A/C] NM_014698 TMEM63A EXON Missense_F533L kgp5104913 1 226044391 [A/G] NM_014698 TMEM63A EXON Synonymous_I511I exm153124 1 226046964 [T/C] NM_014698 TMEM63A EXON Missense_T437A kgp8044632 1 226046974 [T/C] NM_014698 TMEM63A EXON Synonymous_L433L exm153131 1 226048611 [T/C] NM_014698 TMEM63A EXON Missense_Y391C exm153134 1 226048680 [T/C] NM_014698 TMEM63A EXON Missense_N368S kgp15375502 1 226048680 [T/C] NM_014698 TMEM63A EXON Missense_N368S rs360080 1 226049648 [A/G] NM_014698 TMEM63A Silent indel.10317 1 226050276 [I/D] NM_014698 TMEM63A EXON exm153150 1 226050490 [A/T] NM_014698 TMEM63A EXON Missense_I270F exm153151 1 226050502 [T/C] NM_014698 TMEM63A EXON Missense_V266M kgp15823942 1 226050503 [A/G] NM_014698 TMEM63A EXON Synonymous_N265N kgp8662845 1 226050512 [T/C] NM_014698 TMEM63A EXON Synonymous_L262L exm153162 1 226053660 [T/C] NM_014698 TMEM63A EXON Missense_R228Q exm153164 1 226054333 [A/G] NM_014698 TMEM63A EXON Missense_L206F exm153165 1 226054344 [A/G] NM_014698 TMEM63A EXON Missense_I202T rs2292564 1 226055595 [A/G] NM_014698 TMEM63A EXON Synonymous_D169D exm153177 1 226055624 [T/C] NM_014698 TMEM63A EXON Missense_V160I exm2232612 1 226055690 [C/G] NM_014698 TMEM63A EXON Missense_H138D exm1764761 1 226055696 [T/C] NM_014698 TMEM63A EXON Missense_A136T var_1_226059707 1 226059707 [A/G] NM_014698 TMEM63A EXON Nonsense_Q105X exm153194 1 226065232 [T/C] NM_014698 TMEM63A EXON Missense_I17V exm153199 1 226065268 [C/G] NM_014698 TMEM63A EXON Missense_P5A kgp15825448 1 226065283 [A/C] NM_014698 TMEM63A EXON Silent kgp15286371 1 226065291 [T/C] NM_014698 TMEM63A EXON Silent rs360102 1 226067862 [A/G] NM_014698 TMEM63A Silent rs3753668 1 226071754 [T/C] exm153215 1 226074563 [T/G] NM_020997 LEFTY1 EXON Missense_D322A exm1764777 1 226074572 [G/C] NM_020997 LEFTY1 EXON Missense_S319W exm153217 1 226074594 [T/C] NM_020997 LEFTY1 EXON Missense_G312R exm153219 1 226074608 [T/G] NM_020997 LEFTY1 EXON Missense_K307T exm153239 1 226075310 [T/C] NM_020997 LEFTY1 EXON Missense_K176E exm153240 1 226075316 [G/C] NM_020997 LEFTY1 EXON Missense_G174R exm153256 1 226076598 [T/C] NM_020997 LEFTY1 EXON Missense_V57M rs360059 1 226077132 [A/G] rs1877726 1 226077231 [A/G] rs360071 1 226091735 [T/C] rs10915896 1 226095048 [T/C] exm1764791 1 226108177 [G/C] NM_001271681,NM_013328 PYCR2,PYCR2 EXON Missense_A240G,Missense_A314G variant.10322 1 226108314 [T/C] NM_001271681,NM_013328 PYCR2,PYCR2 EXON Synonymous_L194L,Synonymous_L268L exm1764802 1 226109278 [T/C] NM_001271681,NM_013328 PYCR2,PYCR2 EXON Missense_I129V,Missense_I203V exm153278 1 226109287 [A/G] NM_001271681,NM_013328 PYCR2,PYCR2 EXON Missense_R126C,Missense_R200C exm2232619 1 226109948 [T/C] NM_001271681,NM_013328 PYCR2,PYCR2 EXON Missense_V92M,Missense_V92M exm153297 1 226110014 [C/G] NM_001271681,NM_013328 PYCR2,PYCR2 EXON Missense_V70L,Missense_V70L exm153298 1 226110029 [T/C] NM_001271681,NM_013328 PYCR2,PYCR2 EXON Missense_V65I,Missense_V65I exm153312 1 226125169 [A/G] NM_003240,NM_001172425 LEFTY2,LEFTY2 EXON Missense_A358V,Missense_A324V exm153336 1 226127272 [T/C] NM_003240,NM_001172425 LEFTY2,LEFTY2 EXON Missense_K176E,Missense_K142E exm153353 1 226128672 [T/C] NM_003240,NM_001172425 LEFTY2,LEFTY2 EXON Missense_V57M,Missense_V57M exm153356 1 226128744 [A/G] NM_003240,NM_001172425 LEFTY2,LEFTY2 EXON Missense_R33W,Missense_R33W rs2493163 1 226131691 [T/C] rs12728713 1 226160511 [T/C] rs2816330 1 226166027 [A/G] rs10915916 1 226166555 [T/G] exm1764836 1 226173043 [A/G] NM_152608 SDE2 EXON Missense_P439L exm153371 1 226173202 [T/C] NM_152608 SDE2 EXON Missense_D386G exm153372 1 226173217 [T/C] NM_152608 SDE2 EXON Missense_D381G variant.10329 1 226175611 [A/G] NM_152608 SDE2 EXON Nonsense_Q374X indel.10330 1 226175677 [D/I] NM_152608 SDE2 EXON exm153385 1 226175790 [A/G] NM_152608 SDE2 EXON Missense_T314I exm153386 1 226175795 [A/C] NM_152608 SDE2 EXON Missense_M312I exm153390 1 226175904 [T/C] NM_152608 SDE2 EXON Missense_H276R variant.10331 1 226175932 [A/G] NM_152608 SDE2 EXON Nonsense_Q267X variant.10332 1 226176076 [A/C] NM_152608 SDE2 EXON Nonsense_G219X exm153403 1 226180186 [T/C] NM_152608 SDE2 EXON Missense_V145I exm153407 1 226180227 [T/C] NM_152608 SDE2 EXON Missense_E131G var_1_226180591 1 226180591 [A/C] NM_152608 SDE2 Silent exm153409 1 226180592 [A/G] NM_152608 SDE2 EXON Missense_A117V indel.10336 1 226180664 [I/D] NM_152608 SDE2 EXON variant.10337 1 226183050 [T/C] NM_152608 SDE2 EXON Missense_N52S rs11808474 1 226195946 [T/C] rs11580276 1 226202334 [T/C] rs4653704 1 226222657 [A/G] rs12754943 1 226228627 [T/C] rs10915924 1 226234883 [T/C] rs4271181 1 226266029 [A/G] rs12096737 1 226276554 [T/G] NR_146920 LINC01703 Silent rs10915933 1 226279050 [A/G] rs1355391 1 226285151 [A/G] rs7515023 1 226300488 [T/C] rs3887559 1 226317841 [T/G] rs1219671 1 226319520 [A/G] exm153441 1 226340046 [G/C] NM_022735,NR_146443 ACBD3,ACBD3-AS1 EXON Missense_E455D,Silent indel.10338 1 226340120 [D/I] NM_022735,NR_146443 ACBD3,ACBD3-AS1 EXON indel.10339 1 226340287 [D/I] NM_022735,NR_146443 ACBD3,ACBD3-AS1 EXON exm153454 1 226342371 [T/G] NM_022735,NR_146443 ACBD3,ACBD3-AS1 EXON Missense_E356A,Silent exm153457 1 226342446 [A/G] NM_022735,NR_146443 ACBD3,ACBD3-AS1 EXON Missense_M331T,Silent variant.10340 1 226346880 [T/C] NM_022735 ACBD3 Silent exm153466 1 226349268 [T/C] NM_022735 ACBD3 EXON Missense_R231Q exm153469 1 226349319 [T/C] NM_022735 ACBD3 EXON Missense_R214H exm153470 1 226349320 [A/G] NM_022735 ACBD3 EXON Missense_R214C rs1219663 1 226350367 [T/C] NM_022735 ACBD3 Silent rs4653719 1 226350383 [A/G] NM_022735 ACBD3 Silent exm153476 1 226352498 [T/G] NM_022735 ACBD3 EXON Missense_E187D exm153479 1 226352599 [T/C] NM_022735 ACBD3 EXON Missense_K154E variant.10342 1 226352622 [T/C] NM_022735 ACBD3 EXON Nonsense_W146X rs12402078 1 226355373 [A/G] NM_022735 ACBD3 Silent rs3845505 1 226355420 [A/C] NM_022735 ACBD3 Silent rs9286998 1 226360795 [T/C] NM_022735 ACBD3 Silent rs10753415 1 226385623 [T/C] rs10495244 1 226387618 [A/G] rs11811952 1 226401914 [A/G] rs11810473 1 226403979 [A/G] rs3008192 1 226404457 [T/C] exm153500 1 226411686 [G/C] NM_001282402,NM_031944 MIXL1,MIXL1 EXON Missense_E102Q,Missense_E102Q exm153511 1 226413414 [A/C] NM_001282402,NM_031944 MIXL1,MIXL1 EXON Missense_Q208H,Missense_Q200H exm153527 1 226421157 [T/G] NM_173083,NM_001270410,NM_001270409 LIN9,LIN9,LIN9 EXON Missense_E454A,Missense_E386A,Missense_E419A rs10799347 1 226474132 [A/G] NM_173083,NM_001270410,NM_001270409 LIN9,LIN9,LIN9 EXON Synonymous_F158F,Synonymous_F90F,Synonymous_F123F rs10127776 1 226474479 [A/G] NM_173083,NM_001270410,NM_001270409 LIN9,LIN9,LIN9 Silent,Silent,Silent variant.10347 1 226485415 [T/C] NM_173083,NM_001270410,NM_001270409 LIN9,LIN9,LIN9 Silent,Silent,Silent exm1764936 1 226485443 [T/G] NM_173083,NM_001270410,NM_001270409 LIN9,LIN9,LIN9 EXON Missense_N62H,Silent,Missense_N62H exm153556 1 226485449 [A/C] NM_173083,NM_001270410,NM_001270409 LIN9,LIN9,LIN9 EXON Missense_G60C,Silent,Missense_G60C exm153557 1 226485458 [T/C] NM_173083,NM_001270410,NM_001270409 LIN9,LIN9,LIN9 EXON Missense_V57I,Silent,Missense_V57I rs11802954 1 226491656 [A/G] NM_173083,NM_001270410,NM_001270409 LIN9,LIN9,LIN9 Silent,Silent,Silent rs2615762 1 226498612 [A/G] rs10915975 1 226521192 [T/C] rs11800726 1 226523560 [T/C] rs6426551 1 226542049 [A/G] rs6675327 1 226543909 [A/G] rs12567614 1 226544420 [T/C] exm153581 1 226550829 [T/C] NM_001618 PARP1 EXON Missense_K940R exm153599 1 226553677 [A/G] NM_001618 PARP1 EXON Missense_A828V exm153606 1 226555302 [A/G] NM_001618 PARP1 EXON Missense_V762A rs3219110 1 226557878 [T/C] NM_001618 PARP1 Silent exm153619 1 226562006 [T/C] NM_001618 PARP1 EXON Missense_K664R rs3219090 1 226564691 [T/C] NM_001618 PARP1 Silent exm153623 1 226564855 [A/G] NM_001618 PARP1 EXON Missense_T632M rs907190 1 226566726 [A/C] NM_001618 PARP1 Silent exm2232632 1 226566904 [T/C] NM_001618 PARP1 EXON Missense_I562V exm153642 1 226567298 [T/C] NM_001618 PARP1 EXON Missense_G530R exm153643 1 226567661 [A/G] NM_001618 PARP1 EXON Missense_A502V exm153652 1 226567795 [A/G] NM_001618 PARP1 EXON Synonymous_D457D exm153655 1 226567847 [T/C] NM_001618 PARP1 EXON Missense_N440S exm153657 1 226568798 [T/C] NM_001618 PARP1 EXON Missense_N424S indel.10350 1 226568845 [I/D] NM_001618 PARP1 EXON exm153663 1 226570748 [T/G] NM_001618 PARP1 EXON Missense_S383Y exm153666 1 226570767 [A/G] NM_001618 PARP1 EXON Missense_P377S exm2275215 1 226573206 [T/C] NM_001618 PARP1 EXON Missense_K337R exm153671 1 226573216 [T/C] NM_001618 PARP1 EXON Missense_V334I exm153680 1 226573339 [A/G] NM_001618 PARP1 EXON Missense_L293F exm153684 1 226574028 [A/G] NM_001618 PARP1 EXON Missense_A278V exm153685 1 226574031 [A/G] NM_001618 PARP1 EXON Missense_S277L rs2293464 1 226576296 [A/G] NM_001618 PARP1 Silent exm1765023 1 226576415 [A/G] NM_001618 PARP1 EXON Missense_A220V exm153691 1 226576418 [A/G] NM_001618 PARP1 EXON Missense_V219A exm153700 1 226578166 [T/C] NM_001618 PARP1 EXON Missense_A188T exm153708 1 226578278 [A/C] NM_001618 PARP1 EXON Missense_Q150H exm1765036 1 226589978 [A/G] NM_001618 PARP1 EXON Missense_S75P rs2136875 1 226606536 [A/G] rs1527365 1 226611363 [T/C] rs12025226 1 226612023 [A/G] rs10915993 1 226618382 [A/C] exm-rs7531792 1 226626277 [A/G] rs10799352 1 226631272 [T/C] rs10495245 1 226640376 [A/C] rs4653743 1 226653478 [T/G] rs12033699 1 226655011 [A/G] rs10799355 1 226665284 [A/G] rs898834 1 226670795 [T/C] rs898833 1 226670999 [T/C] rs17519476 1 226677818 [A/G] rs990618 1 226678384 [T/C] rs12402021 1 226683251 [T/C] rs7524430 1 226693542 [T/C] rs1151815 1 226694739 [T/C] rs506128 1 226702300 [A/G] rs11585765 1 226704825 [T/C] rs751684 1 226708398 [A/G] rs7545563 1 226717942 [A/C] rs16846092 1 226729492 [A/C] rs589616 1 226769798 [A/G] NM_001003665 STUM Silent rs837919 1 226772712 [T/C] NM_001003665 STUM Silent rs12035052 1 226772889 [A/G] NM_001003665 STUM Silent exm153745 1 226785102 [A/G] NM_001003665 STUM Silent rs708754 1 226785742 [A/G] NM_001003665 STUM Silent variant.10355 1 226789700 [T/C] NM_001003665 STUM Silent rs878148 1 226790621 [T/C] NM_001003665 STUM EXON Silent rs3820632 1 226790951 [A/G] NM_001003665 STUM EXON Silent rs6697883 1 226797733 [A/G] rs2078211 1 226807117 [T/G] rs708757 1 226807512 [T/C] rs7533764 1 226812231 [T/G] exm2250820 1 226813061 [T/C] rs6696348 1 226817467 [T/C] rs697846 1 226817699 [A/G] rs1144840 1 226819833 [A/G] NM_002221 ITPKB EXON Silent exm153760 1 226822380 [C/G] NM_002221 ITPKB EXON Missense_L945V exm153767 1 226822473 [T/C] NM_002221 ITPKB EXON Missense_V914I exm153769 1 226822525 [A/G] NM_002221 ITPKB EXON Synonymous_I896I exm2250821 1 226822525 [A/G] NM_002221 ITPKB EXON Synonymous_I896I exm153778 1 226825448 [T/C] NM_002221 ITPKB EXON Missense_A853T exm153779 1 226827258 [G/C] NM_002221 ITPKB EXON Synonymous_L851L exm153794 1 226829794 [T/C] NM_002221 ITPKB EXON Missense_R760Q exm2265086 1 226833304 [A/G] NM_002221 ITPKB Silent rs4653762 1 226836190 [A/C] NM_002221 ITPKB Silent rs3820636 1 226841347 [A/G] NM_002221 ITPKB Silent rs10916025 1 226855889 [C/G] NM_002221,NR_103784 ITPKB,ITPKB-IT1 Silent,Silent rs12094617 1 226859676 [T/G] NM_002221,NR_103784 ITPKB,ITPKB-IT1 Silent,Silent rs708766 1 226865254 [A/C] NM_002221 ITPKB Silent rs940659 1 226875552 [T/C] NM_002221 ITPKB Silent rs3768403 1 226898992 [A/G] NM_002221 ITPKB Silent rs708772 1 226912891 [T/C] NM_002221 ITPKB Silent rs3768414 1 226917898 [A/G] NM_002221 ITPKB Silent rs708773 1 226920730 [T/C] NM_002221 ITPKB Silent rs3754411 1 226920773 [A/G] NM_002221 ITPKB Silent exm2250822 1 226923264 [A/G] NM_002221 ITPKB EXON Synonymous_A632A exm153812 1 226923287 [A/G] NM_002221 ITPKB EXON Missense_R625C exm153829 1 226923473 [A/G] NM_002221 ITPKB EXON Missense_P563S exm153832 1 226923505 [T/G] NM_002221 ITPKB EXON Missense_P552Q exm153843 1 226923749 [G/C] NM_002221 ITPKB EXON Missense_P471A exm153844 1 226923779 [A/G] NM_002221 ITPKB EXON Missense_P461S exm1765219 1 226923911 [T/C] NM_002221 ITPKB EXON Missense_A417T exm153854 1 226923938 [A/C] NM_002221 ITPKB EXON Missense_S408A exm153855 1 226923982 [A/G] NM_002221 ITPKB EXON Missense_P393L exm153860 1 226924133 [T/C] NM_002221 ITPKB EXON Missense_V343M exm153866 1 226924196 [T/C] NM_002221 ITPKB EXON Missense_A322T exm153867 1 226924201 [T/G] NM_002221 ITPKB EXON Missense_D320A exm153870 1 226924241 [A/C] NM_002221 ITPKB EXON Missense_A307S exm153873 1 226924280 [A/C] NM_002221 ITPKB EXON Missense_G294W exm1765224 1 226924291 [A/G] NM_002221 ITPKB EXON Missense_A290V exm153876 1 226924363 [T/C] NM_002221 ITPKB EXON Missense_R266H exm153881 1 226924411 [T/C] NM_002221 ITPKB EXON Missense_G250D exm153889 1 226924569 [T/G] NM_002221 ITPKB EXON Missense_S197R exm153892 1 226924594 [T/C] NM_002221 ITPKB EXON Missense_R189K exm153893 1 226924595 [T/C] NM_002221 ITPKB EXON Missense_R189G exm153895 1 226924642 [T/C] NM_002221 ITPKB EXON Missense_R173H exm153899 1 226924790 [A/G] NM_002221 ITPKB EXON Missense_P124S exm153902 1 226924805 [A/G] NM_002221 ITPKB EXON Missense_L119F exm153906 1 226924886 [T/C] NM_002221 ITPKB EXON Missense_S92G exm153910 1 226924982 [C/G] NM_002221 ITPKB EXON Missense_P60A rs1110033 1 226928864 [A/G] rs708777 1 226933722 [A/G] rs12729579 1 226956181 [T/C] rs12033364 1 226965174 [A/G] rs10495250 1 226973381 [A/G] rs6659113 1 226996412 [A/G] rs6660716 1 226999183 [A/C] rs6426548 1 227013878 [T/C] rs9660802 1 227017031 [T/C] rs3177404 1 227063229 [T/C] NM_012486,NM_000447 PSEN2,PSEN2 EXON Silent,Silent rs11405 1 227069677 [T/C] NM_012486,NM_000447 PSEN2,PSEN2 EXON Synonymous_A23A,Synonymous_A23A exm153931 1 227069693 [T/C] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_R29C,Missense_R29C exm1765257 1 227069708 [A/G] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_G34S,Missense_G34S rs1295640 1 227070378 [T/C] NM_012486,NM_000447 PSEN2,PSEN2 Silent,Silent exm153938 1 227071426 [C/G] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_E54D,Missense_E54D exm1765266 1 227071430 [A/G] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_G56S,Missense_G56S exm153941 1 227071449 [A/G] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_R62H,Missense_R62H exm153953 1 227073271 [T/C] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_S130L,Missense_S130L variant.10360 1 227073297 [A/G] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_V139M,Missense_V139M exm153960 1 227075813 [A/G] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_M174V,Missense_M174V exm153972 1 227076717 [A/G] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_A252T,Missense_A252T exm153982 1 227078994 [T/C] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_T301M,Missense_T301M exm154012 1 227083263 [T/C] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_H443Y,Missense_H444Y rs1800672 1 227085462 [T/C] rs12405469 1 227090500 [A/G] rs1938386 1 227097039 [T/G] rs10916066 1 227098588 [A/G] rs16846679 1 227118741 [A/G] rs17319408 1 227118912 [T/C] rs2777840 1 227127618 [A/G] exm154015 1 227149097 [T/A] NM_020247 COQ8A EXON Missense_I4K exm154019 1 227149153 [A/G] NM_020247 COQ8A EXON Missense_V23M exm154025 1 227149223 [T/C] NM_020247 COQ8A EXON Missense_T46M exm154029 1 227152761 [T/C] NM_020247 COQ8A EXON Missense_H80Y exm154031 1 227152778 [T/G] NM_020247 COQ8A EXON Missense_H85Q exm2250825 1 227152781 [A/C] NM_020247 COQ8A EXON Synonymous_A86A exm154039 1 227152821 [T/G] NM_020247 COQ8A EXON Missense_D100Y exm2275549 1 227153044 [A/C] NM_020247 COQ8A EXON Missense_T174K exm1765358 1 227153384 [T/G] NM_020247 COQ8A EXON Missense_A201S rs2154367 1 227153930 [A/G] NM_020247 COQ8A Silent exm154071 1 227165224 [C/G] NM_020247 COQ8A EXON Missense_G244R exm154085 1 227169808 [T/C] NM_020247 COQ8A EXON Missense_R271C exm154093 1 227170420 [T/C] NM_020247 COQ8A EXON Missense_R299W exm154098 1 227170644 [A/G] NM_020247 COQ8A EXON Missense_Y330C exm154137 1 227171824 [A/G] NM_020247 COQ8A EXON Missense_Y429C exm154140 1 227171916 [A/G] NM_020247 COQ8A EXON Missense_S460G exm154150 1 227172604 [T/C] NM_020247 COQ8A EXON Missense_R512W exm154151 1 227172605 [A/G] NM_020247 COQ8A EXON Missense_R512Q exm154161 1 227172987 [G/C] NM_020247 COQ8A EXON Missense_E535D exm154162 1 227172988 [A/G] NM_020247 COQ8A EXON Missense_T536A exm154165 1 227173027 [A/G] NM_020247 COQ8A EXON Missense_G549S exm154169 1 227174159 [A/G] NM_020247 COQ8A EXON Missense_M555I exm154172 1 227174171 [G/C] NM_020247 COQ8A EXON Missense_H559Q exm154176 1 227174214 [A/G] NM_020247 COQ8A EXON Missense_E574K exm2250826 1 227174318 [T/C] NM_020247 COQ8A EXON Synonymous_S608S exm154185 1 227174370 [T/C] NM_020247 COQ8A EXON Missense_R626C rs8159 1 227174902 [A/G] NM_020247 COQ8A EXON Silent rs10482 1 227175119 [A/G] NM_020247 COQ8A EXON Silent rs2802275 1 227176511 [A/G] rs1045290 1 227178700 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Silent,Silent rs1045289 1 227178713 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Silent,Silent exm2273349 1 227178948 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Silent,Silent exm154203 1 227182033 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_A1618V,Missense_A1699V exm154206 1 227182529 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_G1594R,Missense_G1675R exm2232646 1 227182538 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_D1591N,Missense_D1672N rs17528049 1 227191656 [A/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs3818694 1 227192477 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm154223 1 227192743 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_R1527C,Missense_R1608C exm154238 1 227203825 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_M1489V,Missense_M1570V rs17600747 1 227204557 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm154240 1 227204673 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_R1449H,Missense_R1530H rs3795453 1 227205331 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm154243 1 227211032 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_N1400S,Missense_N1481S exm154249 1 227216376 [A/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_A1356S,Missense_A1437S rs1929861 1 227216662 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Synonymous_K1260K,Synonymous_K1341K exm154259 1 227216775 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_V1223I,Missense_V1304I variant.10392 1 227218994 [A/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm154269 1 227219067 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_Y1120C,Missense_Y1201C exm154270 1 227219076 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_R1117H,Missense_R1198H exm154276 1 227221085 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_A1054T,Missense_A1135T indel.10393 1 227223204 [I/D] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON exm154284 1 227223273 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_K963E,Missense_K1044E variant.10394 1 227239581 [A/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent var_1_227239632 1 227239632 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs2150874 1 227242247 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm154314 1 227268601 [T/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_I744L,Missense_I825L exm2232649 1 227268705 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_Y709C,Missense_Y790C rs11811176 1 227273980 [T/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm154317 1 227279603 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_T699M,Missense_T780M var_1_227307640 1 227307640 [T/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs12134379 1 227325759 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs11800062 1 227348126 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm154367 1 227348245 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_T231M,Missense_T231M rs2175789 1 227354535 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs6426578 1 227357475 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs12742066 1 227371906 [A/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs12035998 1 227374760 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm154380 1 227381550 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_R179K,Missense_R179K exm154381 1 227387293 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_T139A,Missense_T139A rs2670452 1 227405833 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm2268840 1 227418130 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs7519099 1 227426205 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs2813973 1 227428406 [T/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs4630094 1 227431406 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs7540055 1 227477442 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs7519121 1 227486433 [A/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs10916122 1 227513033 [T/C] rs6696713 1 227514656 [T/G] rs3127000 1 227524891 [A/G] rs4075196 1 227542229 [A/G] rs4075861 1 227542811 [A/G] rs10916134 1 227566134 [T/G] rs7533453 1 227576220 [A/C] rs6697269 1 227582562 [T/C] rs3014274 1 227583800 [A/G] rs6659701 1 227586401 [A/G] rs3000784 1 227598169 [A/G] rs3000791 1 227599174 [T/C] rs3014294 1 227603763 [A/G] rs12028062 1 227611295 [A/G] rs6664147 1 227617519 [T/C] rs3014302 1 227617761 [T/C] rs12125212 1 227618683 [A/G] rs16847813 1 227618915 [T/C] rs7546172 1 227622011 [A/G] rs2819516 1 227637092 [T/C] rs1495855 1 227654294 [A/G] rs1587158 1 227658753 [A/G] rs1390403 1 227673227 [A/C] rs903698 1 227677506 [A/G] rs2819493 1 227689829 [T/C] rs1495842 1 227696594 [T/C] rs1495849 1 227736363 [A/G] rs10495276 1 227736946 [T/C] rs10916162 1 227737793 [A/G] rs6696239 1 227750068 [A/G] rs12025815 1 227758072 [A/G] NR_033184,NR_102302,NM_178549 ZNF678,ZNF678,ZNF678 Silent,Silent,Silent rs16847992 1 227796748 [A/C] NR_033184,NR_102302,NM_178549 ZNF678,ZNF678,ZNF678 Silent,Silent,Silent rs12070002 1 227819490 [A/G] NR_033184,NR_102302,NM_178549 ZNF678,ZNF678,ZNF678 Silent,Silent,Silent rs1810680 1 227821255 [T/C] NR_033184,NR_102302,NM_178549 ZNF678,ZNF678,ZNF678 Silent,Silent,Silent variant.10397 1 227834301 [A/C] NR_033184,NR_102302,NM_178549 ZNF678,ZNF678,ZNF678 EXON Silent,Silent,Nonsense_C60X variant.10398 1 227834317 [T/C] NR_033184,NR_102302,NM_178549 ZNF678,ZNF678,ZNF678 EXON Silent,Silent,Nonsense_R66X newrs185492658 1 227834352 [A/C] NR_033184,NR_102302,NM_178549 ZNF678,ZNF678,ZNF678 EXON Silent,Silent,Nonsense_Y77X variant.10400 1 227838706 [A/C] NR_033184,NR_102302,NM_178549 ZNF678,ZNF678,ZNF678 EXON Silent,Silent,Silent exm154433 1 227842385 [T/G] NR_033184,NR_102302,NM_178549 ZNF678,ZNF678,ZNF678 EXON Silent,Silent,Missense_R200I exm154470 1 227842973 [A/G] NR_033184,NR_102302,NM_178549 ZNF678,ZNF678,ZNF678 EXON Silent,Silent,Missense_R396K exm154472 1 227843003 [A/G] NR_033184,NR_102302,NM_178549 ZNF678,ZNF678,ZNF678 EXON Silent,Silent,Missense_C406Y exm154473 1 227843007 [A/T] NR_033184,NR_102302,NM_178549 ZNF678,ZNF678,ZNF678 EXON Silent,Silent,Missense_E407D indel.10402 1 227843040 [D/I] NR_033184,NR_102302,NM_178549 ZNF678,ZNF678,ZNF678 EXON indel.10403 1 227843165 [I/D] NR_033184,NR_102302,NM_178549 ZNF678,ZNF678,ZNF678 EXON indel.10404 1 227843407 [D/I] NR_033184,NR_102302,NM_178549 ZNF678,ZNF678,ZNF678 EXON exm154496 1 227843423 [A/G] NR_033184,NR_102302,NM_178549 ZNF678,ZNF678,ZNF678 EXON Silent,Silent,Missense_C546Y rs1923822 1 227885726 [A/G] rs12097239 1 227912474 [A/G] rs1060295 1 227920061 [T/G] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON Silent,Silent,Silent,Silent,Silent,Silent exm154513 1 227920196 [A/G] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON Silent,Silent,Silent,Silent,Missense_A414V,Missense_A430V exm154518 1 227920314 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON Silent,Silent,Silent,Silent,Missense_A375T,Missense_A391T indel.10405 1 227920348 [I/D] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON exm1765715 1 227920353 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON Silent,Silent,Silent,Silent,Missense_I362V,Missense_I378V exm154523 1 227920602 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON Silent,Silent,Silent,Silent,Silent,Missense_D363N exm154525 1 227920623 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON Silent,Silent,Silent,Silent,Silent,Missense_E356K exm154529 1 227920665 [A/G] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON Silent,Silent,Silent,Silent,Missense_F342L,Missense_F342L exm154530 1 227920668 [A/G] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON Silent,Silent,Silent,Silent,Missense_R341C,Missense_R341C exm154534 1 227920694 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON Silent,Silent,Silent,Silent,Missense_N332S,Missense_N332S exm2250831 1 227921166 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON Silent,Silent,Silent,Silent,Synonymous_A303A,Synonymous_A303A exm154542 1 227921228 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON Silent,Silent,Silent,Silent,Missense_D283N,Missense_D283N exm154550 1 227921714 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON Silent,Silent,Silent,Silent,Missense_V196I,Missense_V196I exm154551 1 227921717 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON Silent,Silent,Silent,Silent,Missense_D195N,Missense_D195N variant.10411 1 227922410 [A/G] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON Silent,Silent,Silent,Silent,Nonsense_Q170X,Nonsense_Q170X indel.10413 1 227922442 [I/D] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON exm154559 1 227922448 [A/G] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON Silent,Silent,Silent,Silent,Missense_T157I,Missense_T157I exm154560 1 227922452 [A/T] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON Silent,Silent,Silent,Silent,Missense_M156L,Missense_M156L exm154566 1 227922485 [A/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4 EXON Silent,Silent,Silent,Silent,Missense_V145F,Missense_V145F exm154570 1 227922866 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Silent,Silent,Silent,Silent,Missense_G83S,Missense_G83S,Silent,Silent,Silent,Silent,Silent,Silent exm154571 1 227922874 [G/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Silent,Silent,Silent,Silent,Missense_S80W,Missense_S80W,Silent,Silent,Silent,Silent,Silent,Silent exm154577 1 227922975 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NM_001161465,NM_023007,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656 SNAP47,SNAP47,SNAP47,SNAP47,JMJD4,JMJD4,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Silent,Silent,Silent,Silent,Nonsense_W46X,Nonsense_W46X,Silent,Silent,Silent,Silent,Silent,Silent exm154589 1 227923195 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P29S,Missense_P29S,Silent,Silent rs16848112 1 227934750 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm154592 1 227935421 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T40I,Missense_T40I,Silent,Silent,Silent exm154594 1 227935444 [A/G] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Missense_R3G,Missense_R3G,Missense_R3G,Silent,Silent,Silent,Missense_R48G,Missense_R48G,Missense_R3G,Silent,Missense_R3G rs2236359 1 227935444 [A/G] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Missense_R3G,Missense_R3G,Missense_R3G,Silent,Silent,Silent,Missense_R48G,Missense_R48G,Missense_R3G,Silent,Missense_R3G exm154598 1 227935529 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Missense_S31L,Missense_S31L,Missense_S31L,Silent,Silent,Silent,Missense_S76L,Missense_S76L,Missense_S31L,Silent,Missense_S31L exm154606 1 227935639 [A/G] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Missense_I68V,Missense_I68V,Missense_I68V,Silent,Silent,Silent,Missense_I113V,Missense_I113V,Missense_I68V,Silent,Missense_I68V exm154611 1 227935754 [A/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Missense_P106H,Missense_P106H,Missense_P106H,Silent,Silent,Silent,Missense_P151H,Missense_P151H,Missense_P106H,Silent,Missense_P106H exm154612 1 227935762 [A/G] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Missense_V109M,Missense_V109M,Missense_V109M,Silent,Silent,Silent,Missense_V154M,Missense_V154M,Missense_V109M,Silent,Missense_V109M exm154614 1 227935790 [A/G] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Missense_R118Q,Missense_R118Q,Missense_R118Q,Silent,Silent,Silent,Missense_R163Q,Missense_R163Q,Missense_R118Q,Silent,Missense_R118Q exm2232664 1 227935831 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Missense_R132C,Missense_R132C,Missense_R132C,Silent,Silent,Silent,Missense_R177C,Missense_R177C,Missense_R132C,Silent,Missense_R132C exm154616 1 227935835 [T/A] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Missense_L133Q,Missense_L133Q,Missense_L133Q,Silent,Silent,Silent,Missense_L178Q,Missense_L178Q,Missense_L133Q,Silent,Missense_L133Q exm154622 1 227935930 [G/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Missense_D165H,Missense_D165H,Missense_D165H,Silent,Silent,Silent,Missense_D210H,Missense_D210H,Missense_D165H,Silent,Missense_D165H exm154625 1 227946805 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Missense_P203S,Missense_P203S,Missense_P203S,Silent,Silent,Silent,Missense_P248S,Missense_P248S,Missense_P203S,Silent,Missense_P203S exm154638 1 227947141 [A/G] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Missense_R315G,Missense_R315G,Missense_R315G,Silent,Silent,Silent,Missense_R360G,Missense_R360G,Missense_R315G,Silent,Missense_R315G exm154642 1 227954668 [G/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Missense_L333V,Missense_L333V,Missense_L333V,Silent,Silent,Silent,Missense_L378V,Missense_L378V,Missense_L333V,Silent,Missense_L333V exm154643 1 227954677 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Missense_R336C,Missense_R336C,Missense_R336C,Silent,Silent,Silent,Missense_R381C,Missense_R381C,Missense_R336C,Silent,Missense_R336C exm154644 1 227954689 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Missense_R340C,Missense_R340C,Missense_R340C,Silent,Silent,Silent,Missense_R385C,Missense_R385C,Missense_R340C,Silent,Missense_R340C exm154645 1 227954701 [A/G] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Missense_A344T,Missense_A344T,Missense_A344T,Silent,Silent,Silent,Missense_A389T,Missense_A389T,Missense_A344T,Silent,Missense_A344T exm154646 1 227954716 [A/G] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Missense_G349S,Missense_G349S,Missense_G349S,Silent,Silent,Silent,Missense_G394S,Missense_G394S,Missense_G349S,Silent,Missense_G349S rs6683757 1 227959417 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136657,NR_136655,NM_053052,NM_001323935,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10799447 1 227966581 [T/C] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136655,NM_053052,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm154660 1 227968303 [A/G] NM_001323933,NM_001323932,NM_001323930,NR_136654,NR_136655,NM_053052,NM_001323931,NR_136656,NM_001323934 SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47,SNAP47 EXON Missense_V397I,Missense_V397I,Missense_V397I,Silent,Silent,Missense_V442I,Missense_V397I,Silent,Missense_V397I rs10916214 1 228003247 [A/G] exm154670 1 228003508 [A/G] NM_183062 PRSS38 EXON Missense_A31T exm154675 1 228003800 [A/G] NM_183062 PRSS38 EXON Missense_R53Q exm154681 1 228003839 [T/C] NM_183062 PRSS38 EXON Missense_A66V exm154686 1 228003871 [A/G] NM_183062 PRSS38 EXON Missense_V77M exm154692 1 228003901 [A/G] NM_183062 PRSS38 EXON Missense_G87S exm1765817 1 228004911 [A/G] NM_183062 PRSS38 EXON Missense_D105N exm154702 1 228004966 [A/C] NM_183062 PRSS38 EXON Missense_A123D exm154704 1 228004975 [T/A] NM_183062 PRSS38 EXON Missense_H126L exm154708 1 228005023 [A/G] NM_183062 PRSS38 EXON Missense_E142G exm154709 1 228005040 [A/G] NM_183062 PRSS38 EXON Missense_G148R exm1765819 1 228005073 [T/C] NM_183062 PRSS38 EXON Missense_R159C exm154712 1 228005074 [A/G] NM_183062 PRSS38 EXON Missense_R159H exm154713 1 228005092 [A/C] NM_183062 PRSS38 EXON Missense_S165Y rs7410917 1 228010782 [T/C] NM_183062 PRSS38 Silent rs6426481 1 228024977 [A/C] NM_183062 PRSS38 Silent rs12565154 1 228027310 [A/G] NM_183062 PRSS38 Silent exm154722 1 228033197 [A/G] NM_183062 PRSS38 EXON Missense_M204V exm154723 1 228033207 [T/C] NM_183062 PRSS38 EXON Missense_P207L exm154728 1 228033258 [A/T] NM_183062 PRSS38 EXON Missense_I224N exm154733 1 228033311 [A/G] NM_183062 PRSS38 EXON Missense_E242K exm1765828 1 228033667 [G/C] NM_183062 PRSS38 EXON Missense_G247R exm154737 1 228033692 [A/G] NM_183062 PRSS38 EXON Missense_R255H exm154740 1 228033728 [A/G] NM_183062 PRSS38 EXON Missense_R267Q rs11589239 1 228037278 [T/C] rs2872243 1 228045508 [A/G] rs12567590 1 228050227 [A/C] exm2260027 1 228057761 [A/G] rs10916232 1 228058967 [A/G] rs4233230 1 228075647 [T/G] rs10799454 1 228079192 [T/C] rs4653883 1 228087561 [A/G] exm154757 1 228109247 [T/C] NM_003395 WNT9A EXON Missense_R357H exm154765 1 228109381 [A/C] NM_003395 WNT9A EXON Missense_R312S exm154773 1 228109506 [A/G] NM_003395 WNT9A EXON Missense_R271W exm154780 1 228109637 [T/C] NM_003395 WNT9A EXON Missense_R227Q rs592736 1 228116831 [T/C] NM_003395 WNT9A Silent rs7529664 1 228122132 [T/C] NM_003395 WNT9A Silent exm2264961 1 228126470 [A/G] NM_003395 WNT9A Silent rs6665129 1 228140460 [A/G] rs849898 1 228153917 [A/G] rs6426488 1 228174528 [T/C] rs964941 1 228193857 [A/G] rs3094911 1 228210179 [A/G] NM_033131 WNT3A Silent exm154833 1 228210573 [A/G] NM_033131 WNT3A EXON Missense_D93N rs708122 1 228216997 [A/C] NM_033131 WNT3A Silent rs10916258 1 228219882 [A/C] NM_033131 WNT3A Silent rs3121309 1 228223036 [A/G] NM_033131 WNT3A Silent rs7539664 1 228227477 [A/C] NM_033131 WNT3A Silent exm154839 1 228238443 [A/G] NM_033131 WNT3A EXON Missense_A134T rs1188976 1 228261901 [A/G] exm154873 1 228284831 [A/G] NM_001024226,NM_001658,NM_001024228,NM_001024227 ARF1,ARF1,ARF1,ARF1 EXON Missense_A6T,Missense_A6T,Missense_A6T,Missense_A6T exm154900 1 228288863 [T/C] NM_024319,NR_130975 C1orf35,C1orf35 EXON Missense_R254H,Silent exm154924 1 228290033 [T/C] NM_024319,NR_130975 C1orf35,C1orf35 EXON Missense_K142R,Silent exm154925 1 228290051 [T/G] NM_024319,NR_130975 C1orf35,C1orf35 EXON Missense_E136A,Silent exm154951 1 228294567 [T/C] NM_181465,NM_181454,NM_181455,NM_001321284,NM_181441,NM_181462,NM_181463,NM_181464,NM_181456 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 EXON Missense_R94Q,Missense_R94Q,Missense_R94Q,Missense_R94Q,Missense_R94Q,Missense_R130Q,Missense_R94Q,Missense_R94Q,Missense_R94Q exm154960 1 228295369 [T/C] NM_181465,NM_181454,NM_181455,NM_001321284,NM_181441,NM_181462,NM_181463,NM_181464,NM_181456 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 EXON Synonymous_A76A,Synonymous_A76A,Synonymous_A76A,Synonymous_A76A,Synonymous_A76A,Synonymous_A112A,Synonymous_A76A,Synonymous_A76A,Synonymous_A76A exm154965 1 228295410 [T/G] NM_181465,NM_181454,NM_181455,NM_001321284,NM_181441,NM_181462,NM_181463,NM_181464,NM_181456 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 EXON Missense_T63P,Missense_T63P,Missense_T63P,Missense_T63P,Missense_T63P,Missense_T99P,Missense_T63P,Missense_T63P,Missense_T63P exm154974 1 228295503 [A/G] NM_181465,NM_181454,NM_181455,NM_001321284,NM_181441,NM_181462,NM_181463,NM_181464,NM_181456 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 EXON Nonsense_R32X,Nonsense_R32X,Nonsense_R32X,Nonsense_R32X,Nonsense_R32X,Nonsense_R68X,Nonsense_R32X,Nonsense_R32X,Nonsense_R32X exm154976 1 228295527 [A/G] NM_181465,NM_181454,NM_181455,NM_001321284,NM_181441,NM_181462,NM_181463,NM_181464,NM_181456 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 EXON Missense_R24C,Missense_R24C,Missense_R24C,Missense_R24C,Missense_R24C,Missense_R60C,Missense_R24C,Missense_R24C,Missense_R24C exm154981 1 228295697 [T/C] NM_181465,NM_181454,NM_181455,NM_001321284,NM_181441,NM_181462,NM_181463,NM_181464,NM_181456 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 EXON Silent,Silent,Silent,Silent,Silent,Missense_G39S,Silent,Silent,Silent exm154986 1 228295961 [T/G] NM_181465,NM_181454,NM_181455,NM_001321284,NM_181441,NM_181462,NM_181463,NM_181464,NM_181456 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 EXON Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L,Missense_M1L variant.10429 1 228296020 [A/C] NM_181465,NM_181454,NM_181455,NM_001321284,NM_181441,NM_181462,NM_181463,NM_181464,NM_181456 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs849749 1 228296745 [T/C] NM_181465,NM_181454,NM_181455,NM_001321284,NM_181441,NM_181462,NM_181463,NM_181464,NM_181456 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1620734 1 228297613 [A/G] rs10916266 1 228303048 [A/C] rs6686210 1 228322507 [A/G] rs2313602 1 228331040 [A/C] NM_001242839,NM_001159390,NM_000858,NM_001242840 GUK1,GUK1,GUK1,GUK1 Silent,Silent,Silent,Silent exm155037 1 228335388 [A/G] NM_001242839,NM_001159390,NM_000858,NM_001242840,NM_001159391 GUK1,GUK1,GUK1,GUK1,GUK1 EXON Missense_D155N,Missense_D176N,Missense_D155N,Missense_D176N,Missense_D155N exm2250835 1 228336130 [T/C] NM_001242839,NM_001159390,NM_000858,NM_001242840,NM_001159391 GUK1,GUK1,GUK1,GUK1,GUK1 EXON Synonymous_Y178Y,Synonymous_Y199Y,Synonymous_Y178Y,Silent,Synonymous_Y178Y exm155046 1 228336131 [A/G] NM_001242839,NM_001159390,NM_000858,NM_001242840,NM_001159391 GUK1,GUK1,GUK1,GUK1,GUK1 EXON Missense_A179T,Missense_A200T,Missense_A179T,Silent,Missense_A179T rs12134624 1 228350774 [T/C] exm155138 1 228353528 [T/C] NM_001010867 IBA57 EXON Missense_A4V exm155164 1 228362650 [T/C] NM_001010867,NM_001310327 IBA57,IBA57 EXON Missense_T200I,Missense_T7I exm155167 1 228362682 [A/G] NM_001010867,NM_001310327 IBA57,IBA57 EXON Missense_G211S,Missense_G18S exm1765995 1 228363073 [C/G] NM_001010867,NM_001310327 IBA57,IBA57 EXON Missense_F310L,Missense_F117L exm1765996 1 228363090 [A/C] NM_001010867,NM_001310327 IBA57,IBA57 EXON Missense_N316T,Missense_N123T exm155191 1 228363123 [T/C] NM_001010867,NM_001310327 IBA57,IBA57 EXON Missense_I327T,Missense_I134T exm155193 1 228363176 [A/G] NM_001010867,NM_001310327 IBA57,IBA57 EXON Missense_A345T,Missense_A152T rs12084338 1 228377913 [A/G] rs12142165 1 228383202 [T/C] exm1766011 1 228399519 [T/A] NR_073155,NR_073154,NM_001271223,NM_001098623,NM_052843 OBSCN-AS1,OBSCN-AS1,OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_F12Y,Missense_F12Y,Missense_F12Y exm155198 1 228399551 [A/G] NR_073155,NR_073154,NM_001271223,NM_001098623,NM_052843 OBSCN-AS1,OBSCN-AS1,OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_V23M,Missense_V23M,Missense_V23M exm155205 1 228399671 [A/G] NR_073155,NR_073154,NM_001271223,NM_001098623,NM_052843 OBSCN-AS1,OBSCN-AS1,OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_D63N,Missense_D63N,Missense_D63N exm155228 1 228400211 [C/G] NR_073155,NR_073154,NM_001271223,NM_001098623,NM_052843 OBSCN-AS1,OBSCN-AS1,OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_G243R,Missense_G243R,Missense_G243R exm155255 1 228401352 [T/C] NR_073155,NR_073154,NM_001271223,NM_001098623,NM_052843 OBSCN-AS1,OBSCN-AS1,OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_A400V,Missense_A400V,Missense_A400V exm155256 1 228401940 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V442L,Missense_V442L,Missense_V442L rs1771487 1 228402121 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_Q502R,Missense_Q502R,Missense_Q502R exm155263 1 228402121 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_Q502R,Missense_Q502R,Missense_Q502R exm155288 1 228403429 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R665Q,Missense_R665Q,Missense_R665Q exm155295 1 228403476 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_Q681E,Missense_Q681E,Missense_Q681E exm155307 1 228404292 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A756T,Missense_A756T,Missense_A756T exm155310 1 228404305 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R760Q,Missense_R760Q,Missense_R760Q exm155315 1 228404368 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R781H,Missense_R781H,Missense_R781H exm155317 1 228404377 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R784H,Missense_R784H,Missense_R784H exm155319 1 228404401 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_Q792R,Missense_Q792R,Missense_Q792R exm155331 1 228404818 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V828L,Missense_V828L,Missense_V828L exm155332 1 228404864 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R843H,Missense_R843H,Missense_R843H rs10157526 1 228406717 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent exm155344 1 228412195 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R989C,Missense_R897C,Missense_R897C rs1757152 1 228412308 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Synonymous_S1026S,Synonymous_S934S,Synonymous_S934S exm155365 1 228412415 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_S1062F,Missense_S970F,Missense_S970F rs6701173 1 228428805 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent exm155382 1 228431063 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R1129W,Missense_R1037W,Missense_R1037W exm155389 1 228432047 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A1178S,Missense_A1086S,Missense_A1086S exm155402 1 228432227 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_C1238R,Missense_C1146R,Missense_C1146R exm2232675 1 228432239 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G1242S,Missense_G1150S,Missense_G1150S exm155405 1 228432264 [T/A] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_H1250L,Missense_H1158L,Missense_H1158L exm155409 1 228433171 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A1272V,Missense_A1180V,Missense_A1180V exm155417 1 228433353 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G1333R,Missense_G1241R,Missense_G1241R rs1888681 1 228433491 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent exm155423 1 228434276 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R1361W,Missense_R1269W,Missense_R1269W exm155424 1 228434277 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R1361Q,Missense_R1269Q,Missense_R1269Q exm155439 1 228434472 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G1426D,Missense_G1334D,Missense_G1334D exm155442 1 228437667 [C/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_E1437D,Missense_E1345D,Missense_E1345D exm155447 1 228437717 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A1454V,Missense_A1362V,Missense_A1362V exm155467 1 228444472 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_K1569R,Missense_K1477R,Missense_K1477R exm155481 1 228444600 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R1612W,Missense_R1520W,Missense_R1520W exm155538 1 228461504 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2099H,Missense_R1724H,Missense_R1724H exm155539 1 228461527 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_E2107Q,Missense_E1732Q,Missense_E1732Q exm155545 1 228461611 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2135C,Missense_R1760C,Missense_R1760C exm155546 1 228461615 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2136H,Missense_R1761H,Missense_R1761H exm155555 1 228461900 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2188Q,Missense_R1813Q,Missense_R1813Q exm155556 1 228461936 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T2200M,Missense_T1825M,Missense_T1825M exm155562 1 228461999 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T2221M,Missense_T1846M,Missense_T1846M exm155563 1 228462007 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2224W,Missense_R1849W,Missense_R1849W exm155581 1 228462332 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_E2290K,Missense_E1915K,Missense_E1915K exm155586 1 228462440 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A2326P,Missense_A1951P,Missense_A1951P exm155590 1 228462495 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T2344I,Missense_T1969I,Missense_T1969I exm155594 1 228462539 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Nonsense_R2359X,Nonsense_R1984X,Nonsense_R1984X exm155609 1 228463680 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G2433V,Missense_G2058V,Missense_G2058V exm155615 1 228464172 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2456Q,Missense_R2081Q,Missense_R2081Q rs1188721 1 228464248 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_D2481E,Missense_D2106E,Missense_D2106E exm155617 1 228464248 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_D2481E,Missense_D2106E,Missense_D2106E exm155618 1 228464255 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_W2484R,Missense_W2109R,Missense_W2109R exm155619 1 228464267 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G2488C,Missense_G2113C,Missense_G2113C exm155621 1 228464276 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_F2491L,Missense_F2116L,Missense_F2116L exm155624 1 228464303 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A2500S,Missense_A2125S,Missense_A2125S exm155626 1 228464316 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P2504R,Missense_P2129R,Missense_P2129R exm155651 1 228465000 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_S2622F,Missense_S2247F,Missense_S2247F exm155656 1 228465516 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_F2701L,Missense_F2272L,Missense_F2272L variant.10478 1 228465538 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Nonsense_R2709X,Nonsense_R2280X,Nonsense_R2280X exm155658 1 228465550 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Nonsense_R2713X,Nonsense_R2284X,Nonsense_R2284X exm155659 1 228466407 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V2722L,Missense_V2293L,Missense_V2293L exm155675 1 228466977 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P2839S,Missense_P2410S,Missense_P2410S exm155680 1 228467064 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2868W,Missense_R2439W,Missense_R2439W exm155685 1 228467079 [T/A] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T2873S,Missense_T2444S,Missense_T2444S exm155687 1 228467095 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V2878A,Missense_V2449A,Missense_V2449A exm155689 1 228467106 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V2882I,Missense_V2453I,Missense_V2453I exm155692 1 228467130 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2890C,Missense_R2461C,Missense_R2461C exm155694 1 228467543 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2902Q,Missense_R2473Q,Missense_R2473Q exm155699 1 228467642 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T2935M,Missense_T2506M,Missense_T2506M exm155706 1 228467711 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2958Q,Missense_R2529Q,Missense_R2529Q exm155711 1 228467881 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Synonymous_A2984A,Synonymous_A2555A,Synonymous_A2555A exm155718 1 228467969 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_D3014H,Missense_D2585H,Missense_D2585H exm155720 1 228467994 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_N3022S,Missense_N2593S,Missense_N2593S exm155722 1 228468069 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_S3047N,Missense_S2618N,Missense_S2618N exm155737 1 228468437 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A3142T,Missense_A2713T,Missense_A2713T exm155739 1 228468458 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V3149M,Missense_V2720M,Missense_V2720M exm155754 1 228469801 [C/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G3218R,Missense_G2789R,Missense_G2789R exm155756 1 228469825 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R3226W,Missense_R2797W,Missense_R2797W exm155757 1 228469826 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R3226Q,Missense_R2797Q,Missense_R2797Q exm155759 1 228469861 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_F3238V,Missense_F2809V,Missense_F2809V exm155760 1 228469870 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R3241W,Missense_R2812W,Missense_R2812W exm155761 1 228469873 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G3242R,Missense_G2813R,Missense_G2813R exm155765 1 228469904 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R3252I,Missense_R2823I,Missense_R2823I exm155769 1 228470764 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A3268V,Missense_A2839V,Missense_A2839V exm155772 1 228470803 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R3281Q,Missense_R2852Q,Missense_R2852Q exm155774 1 228470847 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R3296C,Missense_R2867C,Missense_R2867C exm155786 1 228471293 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A3372T,Missense_A2943T,Missense_A2943T exm155788 1 228471312 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R3378H,Missense_R2949H,Missense_R2949H exm2250836 1 228471379 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Synonymous_R3400R,Synonymous_R2971R,Synonymous_R2971R exm155803 1 228473854 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R3456Q,Missense_R3027Q,Missense_R3027Q exm155815 1 228473959 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V3491G,Missense_V3062G,Missense_V3062G exm2250837 1 228474547 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Synonymous_C3546C,Synonymous_C3117C,Synonymous_C3117C exm155825 1 228474548 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_E3547K,Missense_E3118K,Missense_E3118K exm155828 1 228474567 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_I3553T,Missense_I3124T,Missense_I3124T rs4653935 1 228474817 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent exm155843 1 228475581 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R3673Q,Missense_R3244Q,Missense_R3244Q exm155846 1 228475604 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G3681R,Missense_G3252R,Missense_G3252R exm155853 1 228475819 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T3719M,Missense_T3290M,Missense_T3290M exm155861 1 228475954 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A3764V,Missense_A3335V,Missense_A3335V exm155867 1 228476025 [A/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P3788T,Missense_P3359T,Missense_P3359T exm155869 1 228476366 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_E3801D,Missense_E3372D,Missense_E3372D exm155871 1 228476389 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T3809M,Missense_T3380M,Missense_T3380M exm155904 1 228480317 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P3995L,Missense_P3566L,Missense_P3566L exm155905 1 228480319 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V3996L,Missense_V3567L,Missense_V3567L exm155915 1 228481067 [C/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_K4056N,Missense_K3627N,Missense_K3627N exm2232686 1 228481084 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R4062K,Missense_R3633K,Missense_R3633K exm155925 1 228481257 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A4120T,Missense_A3691T,Missense_A3691T exm155930 1 228481314 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R4139G,Missense_R3710G,Missense_R3710G exm155931 1 228481854 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Synonymous_A4140A,Synonymous_A3711A,Synonymous_A3711A exm155934 1 228481897 [A/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T4155P,Missense_T3726P,Missense_T3726P exm155960 1 228482738 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V4314I,Missense_V3885I,Missense_V3885I rs6693018 1 228487853 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent indel.10499 1 228491612 [D/I] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON rs1150910 1 228492044 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Synonymous_E4681E,Silent,Silent variant.10505 1 228492268 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent variant.10506 1 228492272 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent exm156004 1 228494144 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_C4868G,Missense_C3911G,Missense_C3911G exm156006 1 228494163 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T4874I,Missense_T3917I,Missense_T3917I exm156009 1 228494216 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R4892W,Missense_R3935W,Missense_R3935W exm156011 1 228494243 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A4901T,Missense_A3944T,Missense_A3944T exm156022 1 228494790 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G4996R,Missense_G4039R,Missense_G4039R exm156026 1 228494830 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T5009M,Missense_T4052M,Missense_T4052M exm2232689 1 228494856 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_L5018F,Missense_L4061F,Missense_L4061F exm156038 1 228495112 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_E5073K,Missense_E4116K,Missense_E4116K exm156045 1 228495226 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V5111F,Missense_V4154F,Missense_V4154F exm156046 1 228495821 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V5116G,Missense_V4159G,Missense_V4159G exm156047 1 228495832 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5120W,Missense_R4163W,Missense_R4163W exm156057 1 228495983 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5170H,Missense_R4213H,Missense_R4213H exm156064 1 228496066 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A5198S,Missense_A4241S,Missense_A4241S exm156069 1 228496905 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5239H,Missense_R4282H,Missense_R4282H exm156072 1 228497189 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T5271I,Missense_T4314I,Missense_T4314I exm156076 1 228503566 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5301Q,Missense_R4344Q,Missense_R4344Q exm156078 1 228503579 [A/T] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_N5305K,Missense_N4348K,Missense_N4348K exm156080 1 228503592 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_E5310K,Missense_E4353K,Missense_E4353K exm156087 1 228503679 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T5339A,Missense_T4382A,Missense_T4382A exm156090 1 228503686 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_E5341G,Missense_E4384G,Missense_E4384G exm156096 1 228504472 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_C5407R,Missense_C4450R,Missense_C4450R exm156104 1 228504574 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A5441T,Missense_A4484T,Missense_A4484T exm156106 1 228504577 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_D5442N,Missense_D4485N,Missense_D4485N exm156107 1 228504586 [C/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_H5445D,Missense_H4488D,Missense_H4488D exm156108 1 228504591 [A/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_H5446Q,Missense_H4489Q,Missense_H4489Q exm156112 1 228504614 [T/A] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_Q5454L,Missense_Q4497L,Missense_Q4497L rs4653942 1 228505204 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5491H,Missense_R4534H,Missense_R4534H exm156120 1 228505204 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5491H,Missense_R4534H,Missense_R4534H exm156124 1 228505257 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G5509S,Missense_G4552S,Missense_G4552S exm156126 1 228505275 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5515C,Missense_R4558C,Missense_R4558C exm156127 1 228505276 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5515H,Missense_R4558H,Missense_R4558H exm156132 1 228505378 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_Y5549C,Missense_Y4592C,Missense_Y4592C exm156141 1 228505668 [C/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_S5599C,Missense_S4642C,Missense_S4642C exm156143 1 228505725 [A/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_E5618A,Missense_E4661A,Missense_E4661A exm156144 1 228505727 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5619C,Missense_R4662C,Missense_R4662C exm156146 1 228505739 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G5623S,Missense_G4666S,Missense_G4666S exm156153 1 228506687 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5702Q,Missense_R4745Q,Missense_R4745Q exm156158 1 228506756 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_S5725L,Missense_S4768L,Missense_S4768L exm156159 1 228506761 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5727C,Missense_R4770C,Missense_R4770C exm156161 1 228506768 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P5729L,Missense_P4772L,Missense_P4772L exm156167 1 228506912 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_L5777P,Missense_L4820P,Missense_L4820P exm156168 1 228509093 [A/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P5808T,Missense_P4851T,Missense_P4851T exm156170 1 228509109 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5813H,Missense_R4856H,Missense_R4856H exm156184 1 228509331 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5887H,Missense_R4930H,Missense_R4930H rs373610 1 228509427 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_D5919G,Missense_D4962G,Missense_D4962G exm156190 1 228509430 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5920H,Missense_R4963H,Missense_R4963H exm156191 1 228509475 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G5935D,Missense_G4978D,Missense_G4978D exm156194 1 228509555 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_D5962N,Missense_D5005N,Missense_D5005N exm156196 1 228509579 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5970W,Missense_R5013W,Missense_R5013W exm156198 1 228509588 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5973W,Missense_R5016W,Missense_R5016W exm156200 1 228509598 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5976H,Missense_R5019H,Missense_R5019H exm156201 1 228509610 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P5980L,Missense_P5023L,Missense_P5023L exm156205 1 228509681 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_D6004Y,Missense_D5047Y,Missense_D5047Y exm156210 1 228509733 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A6021V,Missense_A5064V,Missense_A5064V exm156215 1 228509861 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P6064S,Missense_P5107S,Missense_P5107S exm156219 1 228511029 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A6082V,Missense_A5125V,Missense_A5125V exm156236 1 228520597 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T6187M,Missense_T5230M,Missense_T5230M rs369909 1 228520973 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_L6226V,Missense_L5269V,Missense_L5269V exm156242 1 228520995 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R6233H,Missense_R5276H,Missense_R5276H exm156255 1 228522537 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P6327L,Missense_P5370L,Missense_P5370L exm156267 1 228522931 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T6403I,Missense_T5446I,Missense_T5446I exm156270 1 228523528 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A6438V,Missense_A5481V,Missense_A5481V exm156273 1 228523957 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G6465V,Missense_G5508V,Missense_G5508V exm156277 1 228524756 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V6487A,Missense_V5530A,Missense_V5530A exm156282 1 228525008 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R6532H,Missense_R5575H,Missense_R5575H exm156297 1 228525823 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A6617V,Missense_A5660V,Missense_A5660V exm156303 1 228526067 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R6650M,Missense_R5693M,Missense_R5693M exm156306 1 228526578 [T/A] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_S6660R,Missense_S5703R,Missense_S5703R exm156310 1 228526619 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_S6674N,Missense_S5717N,Missense_S5717N exm156313 1 228526653 [A/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_H6685Q,Missense_H5728Q,Missense_H5728Q exm156320 1 228527675 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T6720M,Missense_T5763M,Missense_T5763M exm156323 1 228527749 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R6745C,Missense_R5788C,Missense_R5788C exm156325 1 228527758 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A6748P,Missense_A5791P,Missense_A5791P exm156343 1 228528530 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V6837M,Missense_V5880M,Missense_V5880M exm156344 1 228528549 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_Y6843C,Missense_Y5886C,Missense_Y5886C exm156346 1 228528563 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_Q6848E,Missense_Q5891E,Missense_Q5891E exm2250839 1 228528804 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Synonymous_F6859F,Synonymous_F5902F,Synonymous_F5902F rs417237 1 228532195 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent exm156390 1 228538568 [C/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R7072G,Missense_R6115G,Missense_R6115G exm156392 1 228538598 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A7082T,Missense_A6125T,Missense_A6125T exm156393 1 228538635 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P7094L,Missense_P6137L,Missense_P6137L rs3795811 1 228538968 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent exm156398 1 228539044 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_L7105V,Missense_L6148V,Missense_L6148V indel.10527 1 228543874 [D/I] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON indel.10528 1 228543923 [I/D] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN rs4653946 1 228546242 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent exm2232698 1 228547773 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_V6394I exm156428 1 228547827 [C/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_A6412P exm2250840 1 228547901 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Silent,Silent,Synonymous_D6436D exm156446 1 228548112 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_P6507S exm156447 1 228548116 [A/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_T6508K exm156457 1 228548197 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_R6535H exm156461 1 228548255 [C/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_L6554F exm2232699 1 228548256 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_R6555W exm156482 1 228550429 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_P7229S,Missense_P6272S exm156504 1 228553826 [G/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_G7329A,Missense_G6372A exm156525 1 228554734 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_A7453T,Missense_A6496T exm156530 1 228554800 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_A7475T,Missense_A6518T exm156534 1 228554849 [G/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R7491P,Missense_R6534P exm156550 1 228556505 [G/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_A7574G,Missense_A6617G rs3738685 1 228556788 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN Silent,Silent exm156559 1 228557668 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_G7622S,Missense_G6665S exm156563 1 228557697 [C/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_N7631K,Missense_N6674K exm156564 1 228557698 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_V7632I,Missense_V6675I exm156567 1 228557710 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R7636C,Missense_R6679C exm156568 1 228557711 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R7636H,Missense_R6679H exm156575 1 228557755 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_A7651T,Missense_A6694T exm156578 1 228557780 [T/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_L7659R,Missense_L6702R exm156588 1 228558398 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_E7686K,Missense_E6729K exm156592 1 228558725 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R7706H,Missense_R6749H exm156606 1 228558892 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R7762W,Missense_R6805W exm156608 1 228558911 [A/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_P7768H,Missense_P6811H exm156612 1 228558959 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R7784Q,Missense_R6827Q exm2232703 1 228559076 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R7823Q,Missense_R6866Q exm156623 1 228559090 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R7828C,Missense_R6871C exm156627 1 228559225 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_E7873K,Missense_E6916K exm156637 1 228559375 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_H7923Y,Missense_H6966Y exm156646 1 228559450 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_G7948R,Missense_G6991R exm156650 1 228559556 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_S7983N,Missense_S7026N exm156653 1 228559642 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_P8012S,Missense_P7055S exm156666 1 228559796 [G/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_P8063R,Missense_P7106R exm156674 1 228559933 [A/T] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_T8109S,Missense_T7152S exm156676 1 228559967 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_P8120L,Missense_P7163L exm156678 1 228559994 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_A8129V,Missense_A7172V exm156696 1 228560317 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_V8237M,Missense_V7280M exm2232706 1 228560587 [T/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Nonsense_E8327X,Nonsense_E7370X exm156717 1 228560648 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_S8347F,Missense_S7390F exm156723 1 228560714 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_L8369P,Missense_L7412P exm156725 1 228560747 [A/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_E8380A,Missense_E7423A exm156743 1 228562292 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_A8458V,Missense_A7501V exm156744 1 228562300 [G/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_E8461Q,Missense_E7504Q exm156755 1 228563477 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_V8537M,Missense_V7580M exm156762 1 228563799 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_T8583M,Missense_T7626M exm156774 1 228564778 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_C8646R,Missense_C7689R exm156780 1 228564884 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R8681H,Missense_R7724H exm156788 1 228565209 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_E8724K,Missense_E7767K exm156796 1 228565329 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_V8764I,Missense_V7807I exm156811 1 228566387 [A/G] NM_001271223,NM_001098623 OBSCN,OBSCN EXON Missense_R8888Q,Missense_R7933Q exm156816 1 228582431 [A/G] NM_145214 TRIM11 EXON Missense_S461F exm156845 1 228582935 [A/G] NM_145214 TRIM11 EXON Missense_P293L exm156853 1 228584659 [T/C] NM_145214 TRIM11 EXON Missense_R283Q rs564309 1 228585562 [A/C] NM_145214 TRIM11 Silent exm156908 1 228596036 [T/C] NM_016102,NM_001024940 TRIM17,TRIM17 EXON Missense_V434I,Missense_V434I exm156919 1 228596116 [T/G] NM_016102,NM_001024940 TRIM17,TRIM17 EXON Missense_T407N,Missense_T407N exm156920 1 228596135 [A/G] NM_016102,NM_001024940 TRIM17,TRIM17 EXON Missense_S401P,Missense_S401P exm156945 1 228596779 [A/C] NM_016102,NM_001024940,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Silent,Silent,Missense_G326V exm156948 1 228596811 [T/G] NM_016102,NM_001024940,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Silent,Silent,Nonsense_Y315X exm156951 1 228596903 [T/C] NM_016102,NM_001024940,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Missense_G285R,Missense_G285R,Missense_G285R exm156962 1 228598723 [T/C] NM_016102,NM_001024940,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Missense_R227Q,Missense_R227Q,Missense_R227Q exm156971 1 228598861 [T/C] NM_016102,NM_001024940,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Missense_R181Q,Missense_R181Q,Missense_R181Q exm156974 1 228601506 [T/C] NM_016102,NM_001024940,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Missense_E173K,Missense_E173K,Missense_E173K exm156978 1 228602361 [A/G] NM_016102,NM_001024940,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Missense_A138V,Missense_A138V,Missense_A138V exm156983 1 228602452 [C/G] NM_016102,NM_001024940,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Missense_L108V,Missense_L108V,Missense_L108V exm156986 1 228602511 [T/C] NM_016102,NM_001024940,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Missense_Q88R,Missense_Q88R,Missense_Q88R exm156990 1 228602563 [C/G] NM_016102,NM_001024940,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Missense_Q71E,Missense_Q71E,Missense_Q71E exm1766381 1 228602665 [A/G] NM_016102,NM_001024940,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Nonsense_R37X,Nonsense_R37X,Nonsense_R37X exm157000 1 228602686 [T/C] NM_016102,NM_001024940,NM_001134855 TRIM17,TRIM17,TRIM17 EXON Missense_T30A,Missense_T30A,Missense_T30A exm157007 1 228602816 [T/C] NM_016102,NM_001024940,NM_001134855 TRIM17,TRIM17,TRIM17 Silent,Silent,Silent exm157011 1 228612639 [A/G] NM_003493 HIST3H3 EXON Missense_R130C exm157028 1 228612818 [C/G] NM_003493 HIST3H3 EXON Missense_R70P exm157029 1 228612822 [A/G] NM_003493 HIST3H3 EXON Nonsense_Q69X exm1766395 1 228612823 [T/G] NM_003493 HIST3H3 EXON Missense_F68L exm1766396 1 228612824 [T/A] NM_003493 HIST3H3 EXON Missense_F68Y exm1766398 1 228612837 [A/G] NM_003493 HIST3H3 EXON Missense_R64C exm1766400 1 228612869 [T/C] NM_003493 HIST3H3 EXON Missense_R53H exm157049 1 228613005 [T/C] NM_003493 HIST3H3 EXON Missense_A8T exm157051 1 228613020 [A/G] NM_003493 HIST3H3 EXON Nonsense_R3X exm157053 1 228613025 [A/G] NM_003493 HIST3H3 EXON Missense_M1T exm157054 1 228613026 [T/C] NM_003493 HIST3H3 EXON Missense_M1V rs10916309 1 228614224 [A/G] rs12131962 1 228631641 [A/G] exm157086 1 228645859 [T/C] NM_175055 HIST3H2BB EXON Missense_A10V rs6426503 1 228651011 [T/C] exm2250844 1 228660501 [A/C] rs3795816 1 228681195 [T/C] NM_001010858 RNF187 Silent rs3795817 1 228681749 [T/C] NM_001010858 RNF187 EXON Silent rs12136157 1 228703236 [T/C] rs16848741 1 228705494 [T/G] rs1925716 1 228707539 [T/C] kgp15623341 1 228707678 [T/C] rs11588356 1 228715780 [A/G] rs6672815 1 228784907 [T/C] NR_037962,NR_002834 RHOU,DUSP5P1 Silent,Silent rs765070 1 228805855 [T/C] NR_037962 RHOU Silent rs6692721 1 228818506 [A/G] NR_037962 RHOU Silent rs7526487 1 228824972 [A/C] NR_037962 RHOU Silent rs2180162 1 228866987 [A/G] NR_037962 RHOU Silent rs2295256 1 228874049 [T/C] NR_037962,NM_021205 RHOU,RHOU Silent,Silent rs4531263 1 228878522 [T/C] NR_037962,NM_021205 RHOU,RHOU Silent,Silent exm157152 1 228879176 [A/G] NR_037962,NM_021205 RHOU,RHOU EXON Silent,Missense_I156V exm157156 1 228879260 [A/C] NR_037962,NM_021205 RHOU,RHOU EXON Silent,Missense_P184T exm157160 1 228879311 [A/G] NR_037962,NM_021205 RHOU,RHOU EXON Silent,Missense_I201V rs11580020 1 228880466 [A/G] NR_037962,NM_021205 RHOU,RHOU EXON Silent,Silent rs13349 1 228881129 [A/G] NR_037962,NM_021205 RHOU,RHOU EXON Silent,Silent rs4440831 1 228887522 [A/G] rs6676800 1 228891103 [T/C] rs11585991 1 228904822 [T/C] rs7518686 1 228907642 [T/C] rs6703541 1 228909127 [T/C] rs241324 1 228916634 [A/G] rs241305 1 228937821 [T/C] rs241301 1 228962427 [T/C] rs2639757 1 228968184 [T/C] rs801109 1 228989201 [T/C] rs714349 1 228995219 [T/C] exm-rs801112 1 228996622 [T/C] exm-rs801114 1 228997835 [T/G] rs801116 1 229005123 [A/G] rs241359 1 229005833 [A/G] rs1089255 1 229008266 [T/C] rs1389136 1 229018195 [T/C] rs1341715 1 229018916 [A/G] rs11585386 1 229019148 [T/C] rs6426525 1 229027438 [T/C] rs1493081 1 229030528 [T/G] rs7551503 1 229038351 [T/C] rs6426527 1 229049984 [T/G] rs1891203 1 229060567 [T/G] rs1389139 1 229065083 [A/G] rs778374 1 229091091 [T/C] rs991304 1 229091234 [A/G] rs778373 1 229091575 [T/G] rs496663 1 229098232 [T/C] rs519791 1 229100829 [T/C] rs609384 1 229112170 [T/C] rs609447 1 229112223 [T/C] rs778536 1 229114638 [A/G] rs10916399 1 229118735 [A/G] rs778532 1 229128091 [T/C] rs755482 1 229140452 [A/C] rs595950 1 229145883 [A/G] rs652363 1 229155711 [A/G] rs10916409 1 229156248 [A/C] rs537250 1 229159643 [A/G] rs567911 1 229164804 [T/C] rs1870362 1 229173352 [A/G] rs666453 1 229181697 [T/C] rs7538164 1 229182292 [A/G] rs505557 1 229189441 [A/G] rs652014 1 229200392 [A/C] rs4654717 1 229203703 [A/C] rs12137005 1 229216656 [T/C] rs12089229 1 229229775 [T/C] rs619422 1 229231141 [A/C] rs4078437 1 229258917 [T/C] rs9283408 1 229260643 [A/C] rs3923210 1 229277059 [A/G] rs9287022 1 229278349 [A/C] rs12064154 1 229282076 [T/C] rs11580448 1 229282778 [A/G] rs9660543 1 229282932 [T/C] rs9701452 1 229290907 [T/G] rs9435847 1 229293357 [A/G] rs186902 1 229300168 [T/C] rs342826 1 229300574 [T/C] rs342824 1 229301909 [T/C] rs6693489 1 229302836 [A/G] rs519253 1 229303363 [A/G] rs449616 1 229307013 [A/C] rs424699 1 229307113 [T/C] rs9435807 1 229308283 [T/G] rs12026629 1 229316554 [T/C] rs869676 1 229319552 [A/G] rs9435856 1 229331680 [A/C] rs12023401 1 229334294 [A/G] rs4925498 1 229334731 [T/C] rs8179432 1 229336116 [A/C] rs12090880 1 229337915 [A/G] rs342833 1 229350560 [A/G] rs342834 1 229351259 [T/C] exm2250846 1 229355000 [T/C] rs501082 1 229360981 [A/C] rs342818 1 229367115 [T/C] rs6670543 1 229375271 [A/C] rs440392 1 229376357 [A/C] rs9435865 1 229377014 [T/C] rs2036775 1 229377038 [A/G] rs6695100 1 229385256 [A/G] rs10799523 1 229416068 [A/G] NM_004578,NM_001271998,NR_073545 RAB4A,RAB4A,RAB4A Silent,Silent,Silent rs9660826 1 229424118 [T/C] NM_004578,NM_001271998,NR_073545 RAB4A,RAB4A,RAB4A Silent,Silent,Silent exm157169 1 229424535 [T/G] NM_004578,NM_001271998,NR_073545 RAB4A,RAB4A,RAB4A EXON Missense_G58C,Silent,Silent exm1766611 1 229431647 [A/G] NM_004578,NM_001271998,NR_073545 RAB4A,RAB4A,RAB4A EXON Missense_D94N,Missense_M1I,Silent variant.10587 1 229433230 [T/C] NM_004578,NM_001271998,NR_073545 RAB4A,RAB4A,RAB4A EXON Nonsense_R98X,Silent,Silent exm157182 1 229438621 [T/C] NM_004578,NM_001271998,NR_073545 RAB4A,RAB4A,RAB4A EXON Missense_P185L,Missense_P80L,Silent exm157183 1 229438654 [A/G] NM_004578,NM_001271998,NR_073545 RAB4A,RAB4A,RAB4A EXON Missense_D196G,Missense_D91G,Silent exm157189 1 229440900 [T/C] NM_004578,NM_001271998,NR_073545,NM_006542 RAB4A,RAB4A,RAB4A,SPHAR EXON Silent,Silent,Silent,Missense_S7P exm157191 1 229441002 [T/C] NM_004578,NM_001271998,NR_073545,NM_006542 RAB4A,RAB4A,RAB4A,SPHAR EXON Silent,Silent,Silent,Missense_L41F rs1088 1 229458456 [A/G] NM_145257 CCSAP EXON Silent exm157198 1 229461083 [G/C] NM_145257 CCSAP EXON Missense_A238P rs237802 1 229461801 [T/G] NM_145257 CCSAP Silent exm157205 1 229462604 [A/G] NM_145257 CCSAP EXON Missense_S173P exm157206 1 229462617 [T/G] NM_145257 CCSAP EXON Missense_K168N exm157207 1 229462625 [T/C] NM_145257 CCSAP EXON Missense_A166T exm157209 1 229462753 [A/G] NM_145257 CCSAP EXON Missense_A123V rs237807 1 229464621 [A/G] NM_145257 CCSAP Silent rs237784 1 229471199 [T/C] NM_145257 CCSAP Silent rs238102 1 229483148 [A/C] rs238099 1 229508905 [T/C] rs7549589 1 229519927 [A/C] rs867325 1 229545085 [A/C] rs4925479 1 229555500 [T/C] rs728614 1 229564117 [T/C] rs499689 1 229565732 [A/G] indel.10591 1 229568418 [I/D] NM_001100 ACTA1 EXON rs506388 1 229571061 [T/G] rs10753458 1 229575709 [A/C] exm157251 1 229577717 [A/C] NM_018230 NUP133 EXON Missense_K1135N rs4338396 1 229580221 [A/G] NM_018230 NUP133 Silent exm157262 1 229586272 [T/C] NM_018230 NUP133 EXON Synonymous_E1060E exm157266 1 229586352 [A/G] NM_018230 NUP133 EXON Synonymous_L1034L exm157269 1 229588273 [T/C] NM_018230 NUP133 EXON Missense_G1033D rs11809516 1 229591667 [T/C] NM_018230 NUP133 Silent exm157274 1 229594003 [T/C] NM_018230 NUP133 EXON Missense_R962H newrs145595619 1 229596453 [A/G] NM_018230 NUP133 EXON Nonsense_Q917X exm157280 1 229596453 [A/G] NM_018230 NUP133 EXON Nonsense_Q917X exm157286 1 229599316 [A/G] NM_018230 NUP133 EXON Missense_R887C exm157288 1 229599340 [T/C] NM_018230 NUP133 EXON Missense_T879A exm157291 1 229599414 [T/C] NM_018230 NUP133 EXON Missense_G854D exm157300 1 229600562 [T/C] NM_018230 NUP133 EXON Missense_K787R variant.10593 1 229601162 [A/G] NM_018230 NUP133 Silent exm2273753 1 229601256 [T/C] NM_018230 NUP133 EXON Missense_Q737R exm157305 1 229602488 [T/C] NM_018230 NUP133 EXON Missense_T698A var_1_229606322 1 229606322 [A/C] NM_018230 NUP133 Silent exm157318 1 229613399 [T/G] NM_018230 NUP133 EXON Missense_D567E rs568916 1 229619516 [T/C] NM_018230 NUP133 Silent exm157325 1 229619888 [A/G] NM_018230 NUP133 EXON Missense_M502T exm157328 1 229622236 [A/G] NM_018230 NUP133 EXON Missense_P461L exm2273754 1 229623242 [G/C] NM_018230 NUP133 EXON Missense_P438R exm157332 1 229623338 [T/C] NM_018230 NUP133 EXON Missense_Q406R exm157333 1 229623339 [A/G] NM_018230 NUP133 EXON Nonsense_Q406X exm157334 1 229623359 [A/G] NM_018230 NUP133 EXON Missense_S399F exm157342 1 229631673 [T/C] NM_018230 NUP133 EXON Missense_R314K exm157343 1 229631734 [T/C] NM_018230 NUP133 EXON Missense_I294V exm157350 1 229633966 [C/G] NM_018230 NUP133 EXON Missense_P246A exm157351 1 229633970 [G/C] NM_018230 NUP133 EXON Missense_I244M exm157359 1 229635480 [A/G] NM_018230 NUP133 EXON Missense_F200S exm157360 1 229635484 [T/C] NM_018230 NUP133 EXON Missense_A199T exm1766781 1 229635512 [C/G] NM_018230 NUP133 EXON Missense_S189R rs10916495 1 229635521 [A/G] NM_018230 NUP133 EXON Synonymous_Y186Y exm2232717 1 229635559 [A/C] NM_018230 NUP133 EXON Missense_A174S exm157366 1 229636561 [T/C] NM_018230 NUP133 EXON Missense_S152N variant.10597 1 229641892 [A/G] NM_018230 NUP133 EXON Nonsense_R66X rs6671385 1 229642652 [T/C] NM_018230 NUP133 Silent exm157373 1 229643815 [T/C] NM_018230 NUP133 EXON Missense_R61Q exm157383 1 229654053 [T/C] NM_012089 ABCB10 EXON Missense_N697S rs10799533 1 229656562 [T/C] NM_012089 ABCB10 Silent exm1766825 1 229663026 [A/G] NM_012089 ABCB10 EXON Missense_R559C indel.10601 1 229663035 [D/I] NM_012089 ABCB10 EXON exm157400 1 229665958 [T/C] NM_012089 ABCB10 EXON Missense_D545N exm2250849 1 229666018 [A/G] NM_012089 ABCB10 EXON Synonymous_L525L exm157410 1 229666108 [T/C] NM_012089 ABCB10 EXON Missense_K495E exm157411 1 229666150 [T/C] NM_012089 ABCB10 EXON Missense_V481I exm157412 1 229667384 [T/G] NM_012089 ABCB10 EXON Missense_N478K exm157413 1 229667404 [G/C] NM_012089 ABCB10 EXON Missense_E472Q exm157416 1 229667460 [A/G] NM_012089 ABCB10 EXON Missense_S453L exm157428 1 229678030 [T/C] NM_012089 ABCB10 EXON Missense_R337Q variant.10604 1 229678040 [A/G] NM_012089 ABCB10 EXON Nonsense_R334X rs3738187 1 229683264 [A/G] NM_012089 ABCB10 EXON Synonymous_S301S variant.10605 1 229684976 [A/G] NM_012089 ABCB10 Silent rs6701445 1 229724800 [T/C] exm157459 1 229730109 [T/C] NM_014409 TAF5L EXON Missense_V569M exm2250850 1 229730131 [C/G] NM_014409 TAF5L EXON Synonymous_G561G exm157463 1 229730133 [T/C] NM_014409 TAF5L EXON Missense_G561R exm2250851 1 229730596 [A/G] NM_014409 TAF5L EXON Synonymous_R406R exm157487 1 229730660 [T/C] NM_014409 TAF5L EXON Missense_Y385C exm157489 1 229730691 [T/C] NM_014409 TAF5L EXON Missense_T375A exm2232721 1 229730775 [T/C] NM_014409 TAF5L EXON Missense_S347G exm157505 1 229738193 [T/C] NM_014409,NM_001025247 TAF5L,TAF5L EXON Missense_V241I,Missense_V241I exm157524 1 229738478 [T/C] NM_014409,NM_001025247 TAF5L,TAF5L EXON Missense_I146V,Missense_I146V rs2273573 1 229746019 [T/C] NM_014409,NM_001025247 TAF5L,TAF5L Silent,Silent exm157539 1 229750089 [T/C] NM_014409,NM_001025247 TAF5L,TAF5L EXON Synonymous_T47T,Synonymous_T47T rs2273574 1 229750343 [T/G] NM_014409,NM_001025247 TAF5L,TAF5L Silent,Silent variant.10607 1 229763366 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Silent,Silent variant.10609 1 229770913 [T/C] NM_001314021,NM_014777 URB2,URB2 EXON Nonsense_Q185X,Nonsense_Q185X exm157565 1 229771013 [T/C] NM_001314021,NM_014777 URB2,URB2 EXON Missense_T218M,Missense_T218M exm1766938 1 229771201 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_V281M,Missense_V281M exm1766939 1 229771229 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_Y290C,Missense_Y290C indel.10610 1 229771295 [D/I] NM_001314021,NM_014777 URB2,URB2 EXON variant.10611 1 229771305 [A/C] NM_001314021,NM_014777 URB2,URB2 EXON Nonsense_Y315X,Nonsense_Y315X variant.10612 1 229771321 [T/C] NM_001314021,NM_014777 URB2,URB2 EXON Nonsense_Q321X,Nonsense_Q321X exm157585 1 229771608 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_I416M,Missense_I416M exm157593 1 229771763 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_R468Q,Missense_R468Q exm1766945 1 229771835 [T/C] NM_001314021,NM_014777 URB2,URB2 EXON Missense_S492L,Missense_S492L indel.10614 1 229771925 [I/D] NM_001314021,NM_014777 URB2,URB2 EXON exm157611 1 229772082 [T/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_R574S,Missense_R574S exm157613 1 229772088 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_M576I,Missense_M576I exm157614 1 229772107 [G/C] NM_001314021,NM_014777 URB2,URB2 EXON Missense_L583V,Missense_L583V exm157617 1 229772137 [T/C] NM_001314021,NM_014777 URB2,URB2 EXON Missense_P593S,Missense_P593S exm157618 1 229772141 [A/T] NM_001314021,NM_014777 URB2,URB2 EXON Missense_E594V,Missense_E594V exm157625 1 229772285 [T/C] NM_001314021,NM_014777 URB2,URB2 EXON Missense_S642L,Missense_S642L exm157627 1 229772302 [T/C] NM_001314021,NM_014777 URB2,URB2 EXON Missense_L648F,Missense_L648F exm157628 1 229772315 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_K652R,Missense_K652R exm157633 1 229772476 [T/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_F706V,Missense_F706V exm157636 1 229772519 [T/C] NM_001314021,NM_014777 URB2,URB2 EXON Missense_T720M,Missense_T720M indel.10617 1 229772616 [I/D] NM_001314021,NM_014777 URB2,URB2 EXON exm157640 1 229772630 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_D757G,Missense_D757G exm157641 1 229772693 [T/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_V778G,Missense_V778G exm157647 1 229772899 [A/C] NM_001314021,NM_014777 URB2,URB2 EXON Missense_M847L,Missense_M847L rs3811474 1 229772932 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_K858E,Missense_K858E exm157648 1 229772932 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_K858E,Missense_K858E indel.10618 1 229773094 [D/I] NM_001314021,NM_014777 URB2,URB2 EXON exm157651 1 229773098 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_Y913C,Missense_Y913C indel.10619 1 229773173 [I/D] NM_001314021,NM_014777 URB2,URB2 EXON exm157676 1 229773691 [T/C] NM_001314021,NM_014777 URB2,URB2 EXON Missense_R1111C,Missense_R1111C exm157677 1 229773692 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_R1111H,Missense_R1111H exm157679 1 229773733 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_E1125K,Missense_E1125K exm157681 1 229773760 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_D1134N,Missense_D1134N var_1_229779387 1 229779387 [T/C] NM_001314021,NM_014777 URB2,URB2 EXON Nonsense_Q1248X,Nonsense_Q1248X exm157701 1 229783267 [T/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_R1306L,Missense_R1306L exm157703 1 229783308 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_G1320R,Missense_G1320R exm157708 1 229783362 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_G1338S,Missense_G1338S rs6696449 1 229785425 [T/C] NM_001314021,NM_014777 URB2,URB2 Silent,Silent exm157722 1 229787030 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_V1400M,Missense_V1400M exm157724 1 229787055 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_R1408Q,Missense_R1408Q exm157732 1 229790071 [A/G] NM_001314021,NM_014777 URB2,URB2 EXON Missense_R1438Q,Missense_R1438Q exm157734 1 229790077 [A/C] NM_001314021,NM_014777 URB2,URB2 EXON Missense_E1440A,Missense_E1440A rs6686112 1 229793082 [T/C] NM_001314021,NM_014777 URB2,URB2 Silent,Silent exm157738 1 229794937 [T/C] NM_001314021,NM_014777 URB2,URB2 EXON Missense_R1490W,Missense_R1490W exm157740 1 229794944 [T/C] NM_001314021,NM_014777 URB2,URB2 EXON Missense_S1492L,Missense_S1492L rs3820361 1 229795330 [T/C] NM_001314021,NM_014777 URB2,URB2 EXON Silent,Silent rs12745210 1 229822279 [T/C] rs4925508 1 229823179 [A/G] rs4562666 1 229824770 [T/C] rs7525615 1 229835413 [T/C] rs1889192 1 229850656 [T/C] rs1930903 1 229861486 [A/G] rs12742436 1 229863007 [A/G] rs1931330 1 229887926 [T/G] rs670054 1 229888337 [A/C] rs687723 1 229890565 [T/C] rs485056 1 229905386 [T/G] rs643009 1 229910737 [A/G] rs7530268 1 229917851 [A/G] rs16850238 1 229921156 [A/C] rs16850261 1 229927222 [T/C] rs583645 1 229927798 [T/C] rs657297 1 229939169 [A/G] exm-rs603991 1 229956480 [T/C] rs662363 1 229958921 [T/C] rs687266 1 229974348 [A/G] rs6587358 1 229984347 [A/G] rs7548102 1 229988711 [T/G] rs6687252 1 229993997 [T/C] rs10495282 1 229996754 [T/C] rs16850516 1 230019022 [T/C] NR_146476 LINC01682 Silent rs16850542 1 230029167 [T/C] NR_146475 LINC01682 Silent rs4925523 1 230056781 [A/C] rs7526242 1 230074815 [T/C] rs7532759 1 230076940 [T/C] rs11578286 1 230081298 [T/C] rs11588095 1 230088714 [T/G] rs16841453 1 230095259 [T/G] rs9432181 1 230138554 [T/C] NR_135116 LINC01736 EXON Silent rs12042904 1 230143970 [T/C] rs16850743 1 230148080 [A/G] rs4295887 1 230152083 [A/G] rs10735526 1 230158734 [T/C] rs4847027 1 230168963 [A/G] rs6663181 1 230187526 [T/G] rs3009715 1 230195713 [T/C] NM_001291866 GALNT2 Silent exm2268980 1 230199398 [T/C] NM_001291866 GALNT2 Silent rs7531967 1 230207349 [A/G] NM_001291866,NM_004481,NR_120373 GALNT2,GALNT2,GALNT2 Silent,Silent,Silent rs1474926 1 230207406 [A/C] NM_001291866,NM_004481,NR_120373 GALNT2,GALNT2,GALNT2 Silent,Silent,Silent rs2883025 1 230208372 [A/G] NM_001291866,NM_004481,NR_120373 GALNT2,GALNT2,GALNT2 Silent,Silent,Silent rs12046584 1 230208852 [A/G] NM_001291866,NM_004481,NR_120373 GALNT2,GALNT2,GALNT2 Silent,Silent,Silent rs7523343 1 230230759 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs12035297 1 230238821 [T/C] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs754666 1 230250182 [T/C] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs4846833 1 230251823 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs11122361 1 230263959 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs1884578 1 230267209 [T/C] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs1973943 1 230272063 [T/C] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs4846904 1 230279410 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs4846908 1 230285056 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs2352723 1 230291868 [T/C] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent exm-rs2144300 1 230294916 [T/C] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent exm-rs4846914 1 230295691 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs2296065 1 230301776 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent exm-rs10489615 1 230304988 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs10489615 1 230304988 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs4846922 1 230307182 [T/C] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs1124110 1 230310972 [T/C] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs678050 1 230313911 [T/C] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent exm157750 1 230314016 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 EXON Missense_N22S,Missense_N60S rs611229 1 230324067 [T/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent exm157752 1 230338909 [G/C] NM_001291866,NM_004481 GALNT2,GALNT2 EXON Missense_Q45E,Missense_Q83E rs4846928 1 230341905 [T/C] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs6703306 1 230351829 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent exm-rs12033321 1 230365641 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent exm157769 1 230372099 [T/C] NM_001291866,NM_004481 GALNT2,GALNT2 EXON Synonymous_S120S,Synonymous_S158S exm157771 1 230372116 [C/G] NM_001291866,NM_004481 GALNT2,GALNT2 EXON Missense_P126R,Missense_P164R exm157775 1 230379078 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 EXON Missense_A174T,Missense_A212T exm157777 1 230379092 [A/T] NM_001291866,NM_004481 GALNT2,GALNT2 EXON Missense_Q178H,Missense_Q216H exm157781 1 230381895 [T/C] NM_001291866,NM_004481 GALNT2,GALNT2 EXON Synonymous_G234G,Synonymous_G272G rs3748006 1 230384937 [T/C] NM_001291866,NM_004481 GALNT2,GALNT2 EXON Synonymous_D237D,Synonymous_D275D rs3789629 1 230387283 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs901675 1 230390002 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs4846943 1 230394298 [T/C] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs3811485 1 230398445 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent indel.10625 1 230398752 [I/D] NM_001291866,NM_004481 GALNT2,GALNT2 variant.10626 1 230398756 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs7552730 1 230400531 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent exm157807 1 230401006 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 EXON Missense_I407V,Missense_I445V rs11576324 1 230408858 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent rs17761459 1 230409562 [A/C] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent variant.10629 1 230410315 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 Silent,Silent exm157826 1 230415064 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 EXON Missense_E488K,Missense_E526K exm157828 1 230415088 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 EXON Missense_V496M,Missense_V534M exm157829 1 230415148 [A/G] NM_001291866,NM_004481 GALNT2,GALNT2 EXON Missense_V516M,Missense_V554M exm157832 1 230415199 [T/C] NM_001291866,NM_004481 GALNT2,GALNT2 EXON Nonsense_Q533X,Nonsense_Q571X rs2273967 1 230415293 [T/C] NM_001291866,NM_004481 GALNT2,GALNT2 EXON Silent,Silent rs12757317 1 230419308 [T/C] rs6541309 1 230421503 [T/C] rs11122478 1 230423481 [A/C] rs751645 1 230429143 [T/C] rs6666008 1 230430380 [A/G] rs4846854 1 230435991 [A/G] rs4414046 1 230438592 [A/G] rs9431827 1 230440257 [T/C] rs1565090 1 230443778 [A/G] rs901668 1 230445193 [A/G] rs12133061 1 230446556 [T/C] rs11122490 1 230447108 [T/C] rs12089782 1 230458324 [T/C] NM_001258311 PGBD5 EXON Silent exm157841 1 230459181 [A/G] NM_001258311 PGBD5 EXON Missense_P522L exm2232730 1 230459307 [T/C] NM_001258311 PGBD5 EXON Missense_S480N rs1565091 1 230459926 [T/C] NM_001258311 PGBD5 Silent exm2250857 1 230469505 [A/G] NM_001258311 PGBD5 Silent rs10864745 1 230474898 [A/G] NM_001258311 PGBD5 Silent rs4489565 1 230478756 [A/G] NM_001258311 PGBD5 Silent rs16851544 1 230489206 [T/G] NM_001258311 PGBD5 Silent exm157882 1 230492801 [T/C] NM_001258311 PGBD5 EXON Missense_A200T exm157890 1 230492879 [T/C] NM_001258311 PGBD5 EXON Missense_M174V exm157893 1 230492935 [T/C] NM_001258311 PGBD5 EXON Missense_S155N rs1108707 1 230496808 [T/C] NM_001258311 PGBD5 Silent variant.10633 1 230503862 [T/C] NM_001258311 PGBD5 Silent rs2795050 1 230504875 [T/G] NM_001258311 PGBD5 Silent rs828453 1 230508313 [A/C] NM_001258311 PGBD5 Silent rs901669 1 230510977 [T/C] NM_001258311 PGBD5 Silent rs7544508 1 230512784 [T/C] NM_001258311 PGBD5 Silent exm157930 1 230513322 [T/C] NM_001258311 PGBD5 Silent exm157936 1 230513337 [T/C] NM_001258311 PGBD5 Silent rs701170 1 230517993 [A/C] NM_001258311 PGBD5 Silent rs11806158 1 230521031 [A/C] NM_001258311 PGBD5 Silent rs828467 1 230521144 [T/C] NM_001258311 PGBD5 Silent rs270852 1 230535548 [T/C] NM_001258311 PGBD5 Silent rs6656262 1 230546627 [T/C] NM_001258311 PGBD5 Silent rs12031576 1 230563455 [T/C] rs11586533 1 230594749 [A/G] rs1418131 1 230604127 [T/C] rs200162 1 230614110 [T/C] rs12024407 1 230621314 [T/C] rs853021 1 230622001 [T/C] rs853022 1 230622709 [T/C] rs12064727 1 230624383 [A/G] rs7555103 1 230648705 [T/C] rs6661407 1 230654589 [A/C] exm-rs6671466 1 230656763 [T/G] rs853431 1 230668260 [A/G] rs853434 1 230673182 [T/G] exm-rs701157 1 230674826 [T/C] rs701157 1 230674826 [T/C] rs3849295 1 230676042 [A/C] rs12042923 1 230676674 [A/G] rs853442 1 230681731 [A/C] rs853452 1 230687711 [T/C] rs1327696 1 230701565 [A/G] rs11804015 1 230704291 [T/C] rs3761946 1 230706868 [T/C] rs3888630 1 230710689 [A/G] rs11122545 1 230713942 [A/G] rs1637941 1 230715075 [T/C] rs11122548 1 230725969 [A/G] rs200587 1 230728901 [T/G] NR_146479 LINC01737 Silent rs11122552 1 230735580 [T/G] rs853463 1 230745894 [T/C] rs16852085 1 230747290 [T/C] rs714214 1 230758605 [A/G] rs12029075 1 230762648 [A/G] rs12031571 1 230766155 [A/C] rs4846997 1 230768037 [T/C] rs11122562 1 230771642 [T/C] rs4846999 1 230778879 [A/G] NM_007357,NM_001145036 COG2,COG2 Silent,Silent rs1887490 1 230779994 [A/G] NM_007357,NM_001145036 COG2,COG2 Silent,Silent rs3827743 1 230780571 [A/G] NM_007357,NM_001145036 COG2,COG2 Silent,Silent rs4847000 1 230781741 [A/G] NM_007357,NM_001145036 COG2,COG2 Silent,Silent exm2250860 1 230795320 [T/C] NM_007357,NM_001145036 COG2,COG2 EXON Synonymous_V61V,Synonymous_V61V exm157951 1 230795355 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_N73S,Missense_N73S rs2296802 1 230798808 [A/G] NM_007357,NM_001145036 COG2,COG2 Silent,Silent exm157961 1 230798959 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_K125E,Missense_K125E variant.10635 1 230798968 [T/G] NM_007357,NM_001145036 COG2,COG2 Silent,Silent exm157964 1 230800231 [T/C] NM_007357,NM_001145036 COG2,COG2 EXON Missense_M128T,Missense_M128T exm157966 1 230800250 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_I134M,Missense_I134M exm157971 1 230800321 [T/A] NM_007357,NM_001145036 COG2,COG2 EXON Missense_L158Q,Missense_L158Q variant.10637 1 230800335 [T/G] NM_007357,NM_001145036 COG2,COG2 Silent,Silent variant.10638 1 230804535 [A/G] NM_007357,NM_001145036 COG2,COG2 Silent,Silent exm157988 1 230805279 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_E258K,Missense_E258K rs16852189 1 230805786 [A/G] NM_007357,NM_001145036 COG2,COG2 Silent,Silent exm157992 1 230807296 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_N270S,Missense_N270S exm1767202 1 230807353 [T/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_L289R,Missense_L289R rs10864766 1 230808005 [T/G] NM_007357,NM_001145036 COG2,COG2 Silent,Silent exm157996 1 230810756 [A/T] NM_007357,NM_001145036 COG2,COG2 EXON Missense_N304K,Missense_N304K exm158000 1 230814668 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_I346V,Missense_I346V exm158001 1 230814698 [T/C] NM_007357,NM_001145036 COG2,COG2 EXON Missense_R356W,Missense_R356W rs3789647 1 230816269 [T/C] NM_007357,NM_001145036 COG2,COG2 Silent,Silent rs2479131 1 230818841 [T/G] NM_007357,NM_001145036 COG2,COG2 Silent,Silent exm158013 1 230822687 [T/C] NM_007357,NM_001145036 COG2,COG2 EXON Missense_L463F,Missense_L463F exm158018 1 230822828 [T/C] NM_007357,NM_001145036 COG2,COG2 EXON Missense_R510C,Missense_R510C exm158020 1 230822832 [G/C] NM_007357,NM_001145036 COG2,COG2 EXON Missense_T511S,Missense_T511S exm158033 1 230824279 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_V589I,Missense_V588I exm158041 1 230827150 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_D652G,Missense_D651G exm2232732 1 230827152 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_V653I,Missense_V652I exm158044 1 230827221 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_A676T,Missense_A675T exm158047 1 230827305 [A/G] NM_007357,NM_001145036 COG2,COG2 EXON Missense_E704K,Missense_E703K rs3789662 1 230828873 [A/G] NM_007357,NM_001145036 COG2,COG2 Silent,Silent exm158058 1 230838903 [A/G] NM_000029 AGT EXON Missense_P481L exm158065 1 230839020 [A/G] NM_000029 AGT EXON Missense_S442F exm158066 1 230839044 [A/G] NM_000029 AGT EXON Missense_A434V exm158072 1 230840016 [A/G] NM_000029 AGT EXON Nonsense_Q398X exm158073 1 230840034 [T/G] NM_000029 AGT EXON Missense_L392M exm158074 1 230840054 [A/G] NM_000029 AGT EXON Missense_V385A exm158078 1 230841680 [A/G] NM_000029 AGT EXON Missense_R375W exm158080 1 230841749 [T/C] NM_000029 AGT EXON Missense_D352N exm158086 1 230841824 [C/G] NM_000029 AGT EXON Missense_D327H exm1767281 1 230841875 [C/G] NM_000029 AGT EXON Missense_V310L exm158089 1 230841914 [A/G] NM_000029 AGT EXON Missense_P297S exm158091 1 230841917 [T/C] NM_000029 AGT EXON Missense_E296K rs2478545 1 230844121 [A/G] NM_000029 AGT Silent rs6687360 1 230844992 [T/C] NM_000029 AGT Silent exm158095 1 230845755 [T/C] NM_000029 AGT EXON Missense_Y281C exm158099 1 230845794 [A/G] NM_000029 AGT EXON Missense_M268T rs699 1 230845794 [A/G] NM_000029 AGT EXON Missense_M268T exm158101 1 230845807 [T/C] NM_000029 AGT EXON Missense_G264S exm158104 1 230845866 [A/C] NM_000029 AGT EXON Missense_L244R variant.10648 1 230845872 [A/G] NM_000029 AGT EXON Missense_T242I exm158115 1 230845977 [A/G] NM_000029 AGT EXON Missense_T207M exm158121 1 230846145 [A/C] NM_000029 AGT EXON Missense_L151W exm158123 1 230846185 [A/C] NM_000029 AGT EXON Missense_A138S exm158124 1 230846187 [A/G] NM_000029 AGT EXON Missense_T137M exm158125 1 230846188 [T/C] NM_000029 AGT EXON Missense_T137A exm158130 1 230846305 [T/C] NM_000029 AGT EXON Missense_E98K exm158134 1 230846349 [A/G] NM_000029 AGT EXON Missense_A83V exm158136 1 230846385 [A/G] NM_000029 AGT EXON Missense_P71L exm158139 1 230846446 [A/G] NM_000029 AGT EXON Missense_C51R exm158140 1 230846449 [T/A] NM_000029 AGT EXON Missense_T50S exm158143 1 230846470 [A/G] NM_000029 AGT EXON Missense_L43F exm158147 1 230846586 [C/G] NM_000029 AGT EXON Missense_R4P variant.10651 1 230846587 [A/G] NM_000029 AGT EXON Nonsense_R4X rs11122576 1 230846679 [T/C] NM_000029 AGT Silent rs2071404 1 230850940 [A/C] rs7549009 1 230855071 [A/G] rs7551720 1 230861589 [A/G] rs2478528 1 230863396 [T/C] rs2478520 1 230867197 [A/G] rs4259658 1 230872906 [T/C] rs2493151 1 230878561 [A/G] rs3895368 1 230883073 [T/C] exm1767336 1 230883283 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_P14L,Missense_P14L,Missense_P14L exm158150 1 230883294 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_D18N,Missense_D18N,Missense_D18N exm2275551 1 230883297 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_A19T,Missense_A19T,Missense_A19T rs6541330 1 230884363 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent rs1316408 1 230885713 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent rs1316409 1 230885776 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent rs2493153 1 230886191 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent exm158155 1 230891082 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent exm158158 1 230891114 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Silent,Missense_G82E,Missense_G82E rs6698654 1 230893608 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent rs1890350 1 230894365 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent exm158162 1 230895257 [C/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent indel.10654 1 230895257 [D/I] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 newrs146559174 1 230895268 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Silent,Nonsense_W98X,Nonsense_W98X exm158168 1 230895284 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Silent,Missense_A104T,Missense_A104T indel.10657 1 230895296 [I/D] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON exm158172 1 230895340 [A/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Silent,Missense_S122R,Missense_S122R exm158175 1 230895365 [A/T] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Silent,Missense_F131I,Missense_F131I rs3790958 1 230897724 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent exm158176 1 230898397 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent exm158179 1 230898462 [A/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_R93S,Missense_R156S,Missense_R156S exm158181 1 230898486 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_D101N,Missense_D164N,Missense_D164N rs3790960 1 230898955 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent rs4847011 1 230900011 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent exm2250863 1 230903350 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Synonymous_T137T,Synonymous_T200T,Synonymous_T200T exm158196 1 230903451 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_I171T,Missense_I234T,Missense_I234T rs3828127 1 230903495 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent rs872505 1 230904268 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent exm158198 1 230904935 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_A176T,Missense_A239T,Missense_A239T exm158201 1 230904960 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_P184L,Missense_P247L,Missense_P247L exm158203 1 230904972 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_I188T,Missense_I251T,Missense_I251T exm158204 1 230904981 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_H191R,Missense_H254R,Missense_H254R rs4847017 1 230905723 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent rs6677009 1 230906954 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent exm158207 1 230907783 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Synonymous_I208I,Synonymous_I271I,Synonymous_I271I exm2250864 1 230907783 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Synonymous_I208I,Synonymous_I271I,Synonymous_I271I exm158209 1 230907799 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_R214W,Missense_R277W,Missense_R277W exm158214 1 230907829 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_G224R,Missense_G287R,Missense_G287R rs11122597 1 230913184 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent rs12724252 1 230914229 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent exm158224 1 230914729 [A/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_K259Q,Missense_K296Q,Missense_K322Q exm158225 1 230914746 [A/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_H264Q,Missense_H301Q,Missense_H327Q exm158227 1 230914769 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_N272S,Missense_N309S,Missense_N335S exm158229 1 230914789 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_E279K,Missense_E316K,Missense_E342K exm158230 1 230914798 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_A282T,Missense_A319T,Missense_A345T exm158232 1 230914820 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_T289M,Missense_T326M,Missense_T352M exm158237 1 230914867 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_R305C,Missense_R342C,Missense_R368C exm158238 1 230914868 [T/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_R305L,Missense_R342L,Missense_R368L exm158242 1 230915984 [T/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Nonsense_E329X,Nonsense_E366X,Nonsense_E392X exm158243 1 230915993 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_S332G,Missense_S369G,Missense_S395G exm158247 1 230916057 [T/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_L353R,Missense_L390R,Missense_L416R indel.10662 1 230916245 [D/I] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 exm158253 1 230916345 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_R395W,Missense_R432W,Missense_R458W exm158256 1 230916409 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_A416V,Missense_A453V,Missense_A479V rs7553239 1 230917513 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent exm158265 1 230923313 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_R459W,Missense_R496W,Missense_R522W exm158266 1 230923323 [A/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_A462D,Missense_A499D,Missense_A525D rs6661547 1 230925464 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent exm158271 1 230925937 [T/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent exm158274 1 230927671 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_M510I,Missense_M547I,Missense_M573I exm158275 1 230927675 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent exm158278 1 230928193 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_E519K,Missense_E556K,Missense_E582K indel.10666 1 230928634 [I/D] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON exm158286 1 230928637 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_M548I,Missense_M585I,Missense_M611I variant.10667 1 230928675 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent exm158293 1 230930967 [T/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_E580D,Missense_E617D,Missense_E643D exm158298 1 230931020 [C/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_A598G,Missense_A635G,Missense_A661G exm158300 1 230931025 [T/C] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 EXON Missense_R600W,Missense_R637W,Missense_R663W exm158301 1 230931026 [A/G] NM_001319676,NM_016452,NM_006615 CAPN9,CAPN9,CAPN9 Silent,Silent,Silent rs10864783 1 230940170 [A/G] rs12410698 1 230947583 [A/G] rs1202526 1 230953248 [A/C] rs9970333 1 230954785 [T/C] rs16852740 1 230959250 [A/C] rs1202543 1 230966799 [A/G] exm158313 1 230979100 [T/C] NM_001136494,NM_032800,NM_001136495 C1orf198,C1orf198,C1orf198 EXON Synonymous_Q271Q,Synonymous_Q309Q,Synonymous_Q179Q exm158318 1 230979207 [A/C] NM_001136494,NM_032800,NM_001136495 C1orf198,C1orf198,C1orf198 EXON Missense_A236S,Missense_A274S,Missense_A144S exm158328 1 230979415 [A/C] NM_001136494,NM_032800,NM_001136495 C1orf198,C1orf198,C1orf198 EXON Missense_E166D,Missense_E204D,Missense_E74D exm158330 1 230979494 [A/G] NM_001136494,NM_032800,NM_001136495 C1orf198,C1orf198,C1orf198 EXON Missense_A140V,Missense_A178V,Missense_A48V exm158332 1 230979511 [A/C] NM_001136494,NM_032800,NM_001136495 C1orf198,C1orf198,C1orf198 EXON Missense_R134S,Missense_R172S,Missense_R42S exm158335 1 230979560 [A/G] NM_001136494,NM_032800,NM_001136495 C1orf198,C1orf198,C1orf198 EXON Missense_S118F,Missense_S156F,Missense_S26F rs2095769 1 230981823 [A/G] NM_001136494,NM_032800,NM_001136495 C1orf198,C1orf198,C1orf198 Silent,Silent,Silent rs11805329 1 230984594 [A/C] NM_001136494,NM_032800,NM_001136495 C1orf198,C1orf198,C1orf198 Silent,Silent,Silent rs1202568 1 230990550 [T/C] NM_001136494,NM_032800,NM_001136495 C1orf198,C1orf198,C1orf198 Silent,Silent,Silent rs1999903 1 230994593 [T/C] NM_001136494,NM_032800 C1orf198,C1orf198 Silent,Silent rs1202581 1 231000867 [A/G] NM_001136494,NM_032800 C1orf198,C1orf198 Silent,Silent exm158360 1 231004221 [A/G] NM_001136494,NM_032800 C1orf198,C1orf198 EXON Silent,Missense_S13L rs1202592 1 231012625 [A/G] NR_110681 LOC101927604 Silent rs1202610 1 231026087 [A/G] rs6704527 1 231028032 [T/G] rs3762404 1 231036505 [T/C] rs7533188 1 231041558 [A/G] exm158362 1 231042661 [T/G] NM_024525,NM_001122835 TTC13,TTC13 EXON Missense_K858T,Missense_K804T exm158367 1 231042715 [A/G] NM_024525,NM_001122835 TTC13,TTC13 EXON Missense_T840M,Missense_T786M exm1767457 1 231048479 [T/C] NM_024525,NM_001122835 TTC13,TTC13 EXON Missense_E707K,Missense_E653K exm158381 1 231052032 [A/G] NM_024525,NM_001122835 TTC13,TTC13 EXON Missense_T667M,Missense_T613M rs10864790 1 231053063 [A/G] NM_024525,NM_001122835 TTC13,TTC13 Silent,Silent rs6656765 1 231054409 [A/G] NM_024525,NM_001122835 TTC13,TTC13 Silent,Silent exm158386 1 231056266 [A/G] NM_024525,NM_001122835 TTC13,TTC13 EXON Missense_P658L,Missense_P605L exm158387 1 231056308 [T/C] NM_024525,NM_001122835 TTC13,TTC13 EXON Missense_R644Q,Missense_R591Q exm158394 1 231059629 [C/G] NM_024525,NM_001122835 TTC13,TTC13 EXON Missense_R591P,Missense_R538P exm158398 1 231060678 [A/G] NM_024525,NM_001122835 TTC13,TTC13 EXON Missense_R544C,Missense_R491C exm158401 1 231061277 [T/C] NM_024525,NM_001122835 TTC13,TTC13 EXON Missense_K525R,Missense_K472R exm158402 1 231061376 [T/C] NM_024525,NM_001122835 TTC13,TTC13 EXON Missense_N492S,Missense_N439S indel.10674 1 231064801 [D/I] NM_024525,NM_001122835 TTC13,TTC13 EXON rs12093178 1 231066697 [A/G] NM_024525,NM_001122835 TTC13,TTC13 Silent,Silent rs11122623 1 231066782 [A/G] NM_024525,NM_001122835 TTC13,TTC13 Silent,Silent rs1890352 1 231069814 [T/C] NM_024525,NM_001122835 TTC13,TTC13 Silent,Silent variant.10675 1 231076239 [A/G] NM_024525,NM_001122835 TTC13,TTC13 EXON Nonsense_Q246X,Nonsense_Q193X rs12130934 1 231078492 [T/G] NM_024525,NM_001122835 TTC13,TTC13 Silent,Silent exm1767489 1 231079622 [C/G] NM_024525,NM_001122835 TTC13,TTC13 EXON Missense_A201G,Silent rs6541240 1 231090578 [A/G] NM_024525,NM_001122835 TTC13,TTC13 Silent,Silent rs12041215 1 231098099 [A/G] NM_024525,NM_001122835 TTC13,TTC13 Silent,Silent rs6541247 1 231104225 [T/C] NM_024525,NM_001122835 TTC13,TTC13 Silent,Silent rs11122173 1 231113437 [A/C] NM_024525,NM_001122835 TTC13,TTC13 Silent,Silent exm158447 1 231114913 [T/C] NM_022786,NM_001346992,NR_144538 ARV1,ARV1,ARV1 EXON Missense_A21V,Missense_A21V,Silent exm158448 1 231114915 [T/A] NM_022786,NM_001346992,NR_144538 ARV1,ARV1,ARV1 EXON Missense_T22S,Missense_T22S,Silent exm158450 1 231114924 [T/G] NM_022786,NM_001346992,NR_144538 ARV1,ARV1,ARV1 EXON Missense_A25S,Missense_A25S,Silent exm158452 1 231114945 [T/C] NM_022786,NM_001346992,NR_144538 ARV1,ARV1,ARV1 EXON Missense_Y32H,Missense_Y32H,Silent rs10864645 1 231115887 [A/C] NM_022786,NM_001346992,NR_144538 ARV1,ARV1,ARV1 Silent,Silent,Silent exm158457 1 231124174 [A/C] NM_022786,NM_001346992,NR_144538 ARV1,ARV1,ARV1 EXON Missense_T95P,Missense_T95P,Silent exm158459 1 231125863 [A/G] NM_022786,NM_001346992,NR_144538 ARV1,ARV1,ARV1 EXON Missense_G101E,Missense_G101E,Silent exm158461 1 231125910 [T/C] NM_022786,NM_001346992,NR_144538 ARV1,ARV1,ARV1 EXON Missense_W117R,Missense_W117R,Silent rs12732752 1 231128319 [A/G] NM_022786,NM_001346992,NR_144538 ARV1,ARV1,ARV1 Silent,Silent,Silent newrs139430705 1 231131504 [A/G] NM_022786,NM_001346992,NR_144538 ARV1,ARV1,ARV1 Silent,Silent,Silent exm158470 1 231131713 [A/C] NM_022786,NM_001346992,NR_144538 ARV1,ARV1,ARV1 EXON Missense_N219T,Missense_N252T,Silent exm158476 1 231133014 [A/G] NM_022786,NM_001346992,NR_144538 ARV1,ARV1,ARV1 Silent,Silent,Silent variant.10683 1 231133018 [T/C] NM_022786,NM_001346992,NR_144538 ARV1,ARV1,ARV1 Silent,Silent,Silent rs11122186 1 231134867 [A/G] NM_022786,NM_001346992,NR_144538 ARV1,ARV1,ARV1 Silent,Silent,Silent exm158480 1 231155616 [A/G] NM_198552,NR_031593 FAM89A,MIR1182 EXON Missense_S183F,Silent exm158485 1 231155682 [T/C] NM_198552 FAM89A EXON Missense_R161Q exm158486 1 231155683 [A/G] NM_198552 FAM89A EXON Nonsense_R161X exm158491 1 231155784 [C/G] NM_198552 FAM89A EXON Missense_A127G exm158494 1 231155818 [C/G] NM_198552 FAM89A EXON Missense_E116Q rs4304564 1 231156743 [T/C] NM_198552 FAM89A Silent rs4658913 1 231160646 [T/C] NM_198552 FAM89A Silent rs4378192 1 231173379 [T/C] NM_198552 FAM89A Silent rs10864662 1 231191803 [A/G] rs12117901 1 231194176 [A/G] rs4658931 1 231195342 [T/G] rs11122213 1 231199867 [A/G] rs4399139 1 231200830 [T/G] rs10864665 1 231204794 [A/G] rs6674245 1 231207771 [A/G] rs3923542 1 231211408 [A/G] rs4322215 1 231228173 [A/G] rs7521117 1 231234439 [T/C] rs6697412 1 231246212 [A/G] rs10864669 1 231254003 [A/G] rs2883720 1 231255113 [T/C] rs12028750 1 231262020 [A/G] exm2268843 1 231262876 [T/C] rs12023396 1 231270636 [A/G] rs9431646 1 231273550 [A/G] rs765265 1 231276007 [A/G] rs6684407 1 231277763 [A/G] rs2236063 1 231301889 [A/C] NM_001004342,NM_001300889 TRIM67,TRIM67 Silent,Silent rs9431660 1 231311867 [A/G] NM_001004342,NM_001300889 TRIM67,TRIM67 Silent,Silent rs12048739 1 231316174 [T/G] NM_001004342,NM_001300889 TRIM67,TRIM67 Silent,Silent exm2260036 1 231326086 [A/G] NM_001004342,NM_001300889 TRIM67,TRIM67 Silent,Silent exm158551 1 231335934 [A/G] NM_001004342,NM_001300889 TRIM67,TRIM67 EXON Missense_R435H,Missense_R373H exm158559 1 231339621 [A/G] NM_001004342,NM_001300889 TRIM67,TRIM67 EXON Missense_V515I,Missense_V453I exm158570 1 231339726 [G/C] NM_001004342,NM_001300889 TRIM67,TRIM67 EXON Missense_E550Q,Missense_E488Q exm158571 1 231339744 [A/G] NM_001004342,NM_001300889 TRIM67,TRIM67 EXON Missense_G556R,Missense_G494R rs6679627 1 231341569 [T/G] NM_001004342,NM_001300889 TRIM67,TRIM67 Silent,Silent rs2180273 1 231342857 [T/C] NM_001004342,NM_001300889 TRIM67,TRIM67 Silent,Silent indel.10689 1 231344767 [I/D] NM_001004342,NM_001300889 TRIM67,TRIM67 EXON exm158589 1 231344908 [A/G] NM_001004342,NM_001300889 TRIM67,TRIM67 EXON Missense_M679V,Missense_M617V rs16841556 1 231345300 [A/C] NM_001004342,NM_001300889 TRIM67,TRIM67 Silent,Silent rs524331 1 231355070 [A/G] NM_001004342,NM_001300889 TRIM67,TRIM67 EXON Silent,Silent variant.10690 1 231361215 [A/C] NM_152379,NM_001300830 C1orf131,C1orf131 Silent,Silent exm158625 1 231362795 [T/C] NM_152379,NM_001300830 C1orf131,C1orf131 EXON Missense_R177Q,Missense_R176Q exm158629 1 231364919 [T/C] NM_152379,NM_001300830 C1orf131,C1orf131 EXON Missense_T163A,Missense_T162A rs551480 1 231365440 [A/G] NM_152379,NM_001300830 C1orf131,C1orf131 Silent,Silent exm158641 1 231374784 [A/G] NM_152379,NM_001300830 C1orf131,C1orf131 EXON Missense_F90S,Missense_F90S exm158642 1 231374798 [G/C] NM_152379,NM_001300830 C1orf131,C1orf131 EXON Missense_K85N,Missense_K85N exm158643 1 231374823 [T/C] NM_152379,NM_001300830 C1orf131,C1orf131 EXON Missense_G77D,Missense_G77D exm158644 1 231374856 [A/G] NM_152379,NM_001300830 C1orf131,C1orf131 EXON Missense_A66V,Missense_A66V indel.10691 1 231374890 [I/D] NM_152379,NM_001300830 C1orf131,C1orf131 EXON exm158647 1 231376793 [A/G] NM_152379,NM_001300830 C1orf131,C1orf131 EXON Missense_L32P,Missense_L32P exm158648 1 231376806 [C/G] NM_152379,NM_001300830 C1orf131,C1orf131 EXON Missense_L28V,Missense_L28V rs518686 1 231377081 [T/C] NM_014236,NM_001316350 GNPAT,GNPAT EXON Silent,Silent exm158657 1 231377150 [T/C] NM_014236,NM_001316350 GNPAT,GNPAT EXON Missense_S9F,Missense_S9F exm158660 1 231377189 [T/C] NM_014236,NM_001316350 GNPAT,GNPAT EXON Missense_V22A,Missense_V22A rs503633 1 231389097 [T/C] NM_014236,NM_001316350 GNPAT,GNPAT Silent,Silent exm158666 1 231396277 [T/G] NM_014236,NM_001316350 GNPAT,GNPAT EXON Missense_V96L,Missense_V35L indel.10696 1 231396290 [I/D] NM_014236,NM_001316350 GNPAT,GNPAT EXON exm158678 1 231401099 [A/G] NM_014236,NM_001316350 GNPAT,GNPAT EXON Missense_R210Q,Missense_R149Q exm158695 1 231402141 [A/G] NM_014236,NM_001316350 GNPAT,GNPAT EXON Missense_N348S,Missense_N287S exm158697 1 231403438 [G/C] NM_014236,NM_001316350 GNPAT,GNPAT EXON Missense_Q356H,Missense_Q295H exm158698 1 231403442 [A/C] NM_014236,NM_001316350 GNPAT,GNPAT EXON Missense_Q358K,Missense_Q297K indel.10698 1 231403585 [D/I] NM_014236,NM_001316350 GNPAT,GNPAT EXON exm158715 1 231406707 [A/G] NM_014236,NM_001316350 GNPAT,GNPAT EXON Missense_V495I,Missense_V434I rs539699 1 231406961 [T/C] NM_014236,NM_001316350 GNPAT,GNPAT Silent,Silent exm158721 1 231408091 [A/G] NM_014236,NM_001316350 GNPAT,GNPAT EXON Missense_D519G,Missense_D458G exm158725 1 231410968 [T/A] NM_014236,NM_001316350 GNPAT,GNPAT EXON Missense_I582K,Missense_I521K exm158727 1 231411060 [A/G] NM_014236,NM_001316350 GNPAT,GNPAT EXON Missense_D613N,Missense_D552N exm158729 1 231411199 [T/C] NM_014236,NM_001316350 GNPAT,GNPAT EXON Missense_A631V,Missense_A570V exm158732 1 231411911 [A/C] NM_014236,NM_001316350 GNPAT,GNPAT EXON Missense_E656D,Missense_E595D exm158736 1 231413267 [A/C] NM_014236,NM_001316350 GNPAT,GNPAT EXON Missense_K674N,Missense_K613N rs540479 1 231416547 [T/C] rs6541266 1 231459478 [A/G] exm158744 1 231471540 [A/G] NM_175876 EXOC8 EXON Missense_I651T variant.10699 1 231471587 [A/C] NM_175876 EXOC8 EXON Nonsense_Y635X exm158748 1 231471673 [C/G] NM_175876 EXOC8 EXON Missense_D607H exm158773 1 231472291 [C/G] NM_175876 EXOC8 EXON Missense_D401H exm158779 1 231472519 [T/C] NM_175876 EXOC8 EXON Missense_V325I exm158780 1 231472520 [A/C] NM_175876 EXOC8 EXON Missense_E324D exm158781 1 231472537 [G/C] NM_175876 EXOC8 EXON Missense_E319Q exm158815 1 231473415 [A/G] NM_175876 EXOC8 EXON Missense_L26P exm158823 1 231474181 [G/C] NM_032018,NM_001010984,NM_001261462 SPRTN,SPRTN,SPRTN EXON Missense_Q18E,Missense_Q18E,Missense_Q18E exm158841 1 231483670 [T/C] NM_032018,NM_001010984,NM_001261462 SPRTN,SPRTN,SPRTN EXON Missense_T150M,Missense_T150M,Silent newrs144560721 1 231487310 [T/G] NM_032018,NM_001010984,NM_001261462 SPRTN,SPRTN,SPRTN EXON Missense_E237D,Missense_E237D,Missense_E194D exm158859 1 231488403 [A/G] NM_032018,NM_001010984,NM_001261462 SPRTN,SPRTN,SPRTN EXON Missense_K256E,Silent,Silent exm158869 1 231488524 [T/C] NM_032018,NM_001010984,NM_001261462 SPRTN,SPRTN,SPRTN EXON Missense_P296L,Silent,Silent exm1767831 1 231488541 [A/G] NM_032018,NM_001010984,NM_001261462 SPRTN,SPRTN,SPRTN EXON Missense_V302M,Silent,Silent exm158885 1 231488952 [A/T] NM_032018,NM_001010984,NM_001261462 SPRTN,SPRTN,SPRTN EXON Missense_T439S,Silent,Silent exm1767836 1 231489081 [A/G] NM_032018,NM_001010984,NM_001261462 SPRTN,SPRTN,SPRTN EXON Missense_K482E,Silent,Silent rs2749717 1 231489353 [T/G] NM_032018,NM_001010984,NM_001261462 SPRTN,SPRTN,SPRTN EXON Silent,Silent,Silent exm158891 1 231502179 [A/G] NM_022051 EGLN1 EXON Missense_S420L indel.10704 1 231506357 [I/D] NM_022051 EGLN1 EXON rs973253 1 231520874 [T/C] NM_022051 EGLN1 Silent rs480902 1 231531627 [T/C] NM_022051 EGLN1 Silent rs2491417 1 231547888 [A/G] NM_022051 EGLN1 Silent rs2808611 1 231548480 [A/G] NM_022051 EGLN1 Silent exm158910 1 231557060 [T/C] NM_022051 EGLN1 EXON Missense_K192R exm158915 1 231557164 [G/C] NM_022051 EGLN1 EXON Missense_Q157H rs1622146 1 231579172 [T/C] rs1769807 1 231651391 [A/G] rs1765794 1 231656418 [A/G] exm158930 1 231665015 [A/G] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_005999 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R11G exm158931 1 231665034 [A/G] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_005999 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N17S rs6668227 1 231709404 [A/G] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1765782 1 231711489 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1655305 1 231727447 [A/G] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NR_034037 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,LINC00582 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6655954 1 231728781 [A/G] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NR_034037 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,LINC00582 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1765791 1 231730121 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NR_034037 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,LINC00582 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1765777 1 231731742 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NR_034037 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,LINC00582 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6656071 1 231737700 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NR_034037 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,LINC00582 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9661331 1 231752306 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4603118 1 231754600 [A/G] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1865226 1 231757882 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2082552 1 231767890 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs823162 1 231772413 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1417585 1 231803604 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs12042938 1 231816842 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1417584 1 231819050 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12040259 1 231826253 [A/G] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1538974 1 231828596 [T/G] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm158955 1 231829578 [A/G] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Silent,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q exm158958 1 231829616 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Silent,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W exm158962 1 231829700 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Silent,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W exm158963 1 231829715 [T/G] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Silent,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L exm158964 1 231829740 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Silent,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L exm158966 1 231829752 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Silent,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V exm158973 1 231829851 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Silent,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V exm158980 1 231829983 [T/G] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Silent,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L exm1767961 1 231830012 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Silent,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C exm158986 1 231830151 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Silent,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L exm158995 1 231830295 [A/G] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Silent,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q exm158999 1 231830364 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Silent,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L exm2232756 1 231830487 [A/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Silent,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N exm159002 1 231830492 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Silent,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F exm159004 1 231830538 [A/G] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Silent,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q variant.10708 1 231837775 [A/G] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028399,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164554,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_E374E,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs12044355 1 231844347 [A/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.10709 1 231858314 [A/G] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001012958,NM_001164550,NM_001164539,NM_001164537,NM_001164555,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NM_001164553,NM_001164552 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_W359X,Missense_E425K,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E383K,Silent rs4658939 1 231870689 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001164539,NM_001164537,NM_001164555,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2793094 1 231876982 [A/G] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001164539,NM_001164537,NM_001164555,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2793093 1 231877073 [A/G] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001164539,NM_001164537,NM_001164555,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.10710 1 231885686 [T/C] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001164539,NM_001164537,NM_001164555,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q410X,Synonymous_N354N,Nonsense_Q28X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X exm159020 1 231885807 [A/G] NR_028395,NR_028397,NR_028398,NR_028400,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_001164551,NM_018662,NM_001164539,NM_001164537,NM_001164555,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R418H,Missense_R418H,Missense_R418H,Missense_R418H,Missense_R418H,Missense_R418H,Missense_R418H,Missense_R418H,Missense_R418H,Missense_R418H,Missense_R450H,Silent,Missense_R68H,Missense_R418H,Missense_R418H,Missense_R418H,Missense_R418H,Missense_R418H rs1538977 1 231897303 [A/G] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs2793086 1 231899704 [T/G] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm159023 1 231902893 [A/G] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G426R,Missense_G426R,Missense_G426R,Missense_G426R,Missense_G426R,Missense_G426R,Missense_G426R,Missense_G426R,Missense_G426R,Missense_G458R,Missense_G76R,Missense_G426R,Missense_G426R,Missense_G426R,Missense_G426R,Silent exm159024 1 231902912 [T/C] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P432L,Missense_P432L,Missense_P432L,Missense_P432L,Missense_P432L,Missense_P432L,Missense_P432L,Missense_P432L,Missense_P432L,Missense_P464L,Missense_P82L,Missense_P432L,Missense_P432L,Missense_P432L,Missense_P432L,Silent exm159030 1 231902975 [T/C] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T453M,Missense_T453M,Missense_T453M,Missense_T453M,Missense_T453M,Missense_T453M,Missense_T453M,Missense_T453M,Missense_T453M,Missense_T485M,Missense_T103M,Missense_T453M,Missense_T453M,Missense_T453M,Missense_T453M,Silent exm2232759 1 231906773 [G/C] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G531R,Missense_G531R,Missense_G531R,Missense_G531R,Missense_G531R,Missense_G531R,Missense_G531R,Missense_G531R,Missense_G531R,Missense_G563R,Missense_G181R,Missense_G531R,Missense_G531R,Missense_G531R,Missense_G531R,Silent exm159044 1 231906801 [A/C] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164549,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P540Q,Missense_P540Q,Missense_P540Q,Missense_P540Q,Missense_P540Q,Missense_P540Q,Missense_P540Q,Missense_P540Q,Missense_P540Q,Missense_P572Q,Missense_P190Q,Missense_P540Q,Missense_P540Q,Missense_P540Q,Missense_P540Q,Silent rs12046794 1 231908755 [A/G] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1KG_1_231910440 1 231910440 [I/D] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 rs2812390 1 231911598 [T/C] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17766087 1 231917877 [T/G] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11590192 1 231922845 [T/C] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12130935 1 231928554 [T/C] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1322784 1 231928935 [A/G] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.10712 1 231930988 [D/I] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON exm159049 1 231935882 [T/C] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T573I,Silent,Missense_T573I,Missense_T573I,Missense_T573I,Silent,Missense_T573I,Missense_T573I,Missense_T605I,Silent,Silent,Silent,Missense_T573I,Missense_T573I,Missense_T451I exm159050 1 231935888 [A/G] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R575K,Silent,Missense_R575K,Missense_R575K,Missense_R575K,Silent,Missense_R575K,Missense_R575K,Missense_R607K,Silent,Silent,Silent,Missense_R575K,Missense_R575K,Missense_R453K rs967244 1 231948646 [A/G] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7548597 1 231953429 [T/G] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NR_002227 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm159052 1 231954090 [T/C] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NR_002227 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T603M,Missense_R569W,Missense_T603M,Missense_T603M,Missense_T603M,Silent,Missense_T603M,Missense_T603M,Missense_T635M,Synonymous_D200D,Synonymous_D550D,Silent,Missense_T603M,Missense_T603M,Missense_T481M,Silent exm159053 1 231954101 [T/C] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NR_002227 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_L607F,Synonymous_T572T,Missense_L607F,Missense_L607F,Missense_L607F,Silent,Missense_L607F,Missense_L607F,Missense_L639F,Silent,Silent,Silent,Missense_L607F,Missense_L607F,Missense_L485F,Silent rs1535530 1 231954427 [T/C] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1535529 1 231954609 [A/G] NR_028395,NR_028397,NR_028398,NR_028396,NR_028393,NR_028394,NM_001164542,NM_001164545,NM_001164544,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164556,NM_001164548,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12132978 1 231971985 [T/C] NR_028393,NM_001164542,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11122347 1 231972026 [A/G] NR_028393,NM_001164542,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6663190 1 231973922 [A/G] NR_028393,NM_001164542,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164539,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1079344 1 231992097 [T/C] NR_028393,NM_001164542,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12730369 1 231993738 [T/C] NR_028393,NM_001164542,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7554237 1 231995584 [A/G] NR_028393,NM_001164542,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12757857 1 231998863 [T/C] NR_028393,NM_001164542,NM_001012959,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2264964 1 232007196 [A/G] NR_028393,NM_001164542,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9432024 1 232007219 [T/C] NR_028393,NM_001164542,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9432040 1 232014116 [A/G] NR_028393,NM_001164542,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2356606 1 232015040 [A/G] NR_028393,NM_001164542,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11122362 1 232019859 [T/C] NR_028393,NM_001164542,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9431714 1 232021248 [A/G] NR_028393,NM_001164542,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1073179 1 232025174 [A/G] NR_028393,NM_001164542,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs967433 1 232031815 [T/C] NR_028393,NM_001164542,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6541290 1 232033478 [T/C] NR_028393,NM_001164542,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11122374 1 232054078 [A/G] NR_028393,NM_001164542,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11584798 1 232066277 [T/C] NR_028393,NM_001164542,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NR_126441 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1-IT1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs701158 1 232073128 [A/G] NR_028393,NM_001164542,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NR_126441 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1-IT1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs872625 1 232074973 [A/G] NR_028393,NM_001164542,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NR_126441 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1-IT1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4658966 1 232078614 [T/C] NR_028393,NM_001164542,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540,NR_126441 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1-IT1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs701160 1 232092481 [T/C] NR_028393,NM_001164542,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm159069 1 232094580 [A/G] NR_028393,NM_001164542,NM_001164541,NM_001164546,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Missense_S663N,Silent,Synonymous_K547K,Missense_S663N,Missense_S695N,Synonymous_K547K,Missense_S663N,Missense_S663N,Missense_S541N rs6670775 1 232096701 [T/C] NR_028393,NM_001164541,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs821597 1 232102264 [A/G] NR_028393,NM_001164541,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4658971 1 232107814 [T/C] NR_028393,NM_001164541,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16855860 1 232112258 [A/G] NR_028393,NM_001164541,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs821663 1 232121222 [T/C] NR_028393,NM_001164541,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs701163 1 232125109 [A/G] NR_028393,NM_001164541,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs821615 1 232143946 [T/C] NR_028393,NM_001164541,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.10713 1 232144533 [D/I] NR_028393,NM_001164541,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON exm159078 1 232144598 [A/T] NR_028393,NM_001164541,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Missense_R683S,Missense_S704C,Missense_S736C,Silent,Missense_S704C,Missense_S704C,Missense_S582C exm159086 1 232144739 [G/C] NR_028393,NM_001164541,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Missense_E751Q,Missense_E783Q,Silent,Missense_E751Q,Silent,Missense_E629Q exm159093 1 232144871 [A/G] NR_028393,NM_001164541,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Missense_T795A,Silent,Silent exm159094 1 232144887 [A/G] NR_028393,NM_001164541,NM_018662,NM_001164537,NM_001164547,NM_001164538,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent,Missense_K800R,Silent,Silent rs866055 1 232147568 [A/G] NR_028393,NM_018662,NM_001164537,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent rs821634 1 232149520 [A/C] NR_028393,NM_018662,NM_001164537,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent rs821639 1 232149843 [A/G] NR_028393,NM_018662,NM_001164537,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent exm-rs16856202 1 232155151 [T/G] NR_028393,NM_018662,NM_001164537,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent rs9726024 1 232168500 [A/G] NR_028393,NM_018662,NM_001164537,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent rs9729194 1 232168867 [T/C] NR_028393,NM_018662,NM_001164537,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1 Silent,Silent,Silent,Silent,Silent rs3737597 1 232172838 [A/G] NR_028393,NM_018662,NM_001164537,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent rs9729179 1 232174173 [T/C] NR_028393,NM_018662,NM_001164537,NM_001012957,NM_001164540 TSNAX-DISC1,DISC1,DISC1,DISC1,DISC1 EXON Silent,Silent,Silent,Silent,Silent rs1411776 1 232177487 [A/G] rs1360399 1 232180048 [T/C] rs16856377 1 232191712 [A/G] rs2776625 1 232200012 [T/C] rs9660187 1 232218784 [A/G] rs9308484 1 232226670 [A/G] rs1411769 1 232227786 [A/C] rs1411768 1 232227916 [T/C] rs2026298 1 232232335 [T/C] rs9730058 1 232242925 [A/C] rs9729778 1 232246001 [T/C] exm-rs10746514 1 232246027 [A/G] rs9308486 1 232246418 [A/G] rs17832313 1 232266181 [T/C] rs1888601 1 232266922 [T/C] rs11122432 1 232270985 [A/G] rs12080088 1 232277358 [A/G] rs9662895 1 232278540 [A/G] rs954745 1 232282491 [T/C] rs16856523 1 232282536 [T/G] rs12087019 1 232287416 [A/G] rs9793010 1 232295535 [T/C] rs9659432 1 232300841 [T/C] rs11122437 1 232301835 [T/C] rs10779832 1 232307419 [T/C] rs9308491 1 232310039 [A/G] rs9727900 1 232311020 [T/C] rs1571755 1 232314505 [T/C] rs11122445 1 232315161 [T/C] rs1984027 1 232316602 [A/C] rs10864724 1 232318791 [T/C] rs16856640 1 232319126 [A/G] rs2884064 1 232319587 [T/C] rs12746164 1 232320938 [T/C] rs6666516 1 232328401 [A/G] rs10752796 1 232330619 [T/G] rs7411832 1 232349350 [A/C] rs7365975 1 232356135 [T/C] rs9725780 1 232363541 [A/G] rs4595321 1 232382510 [T/C] exm2265090 1 232385051 [A/G] rs9286804 1 232396598 [T/C] rs4564083 1 232411985 [T/C] rs1338302 1 232423863 [T/C] rs9728263 1 232429661 [T/G] rs16856752 1 232433843 [A/G] rs885444 1 232438081 [T/C] rs1631842 1 232447391 [T/C] rs9424522 1 232453032 [T/C] rs1338300 1 232457185 [T/G] rs10495315 1 232458444 [T/C] rs12409282 1 232461177 [A/C] rs4649292 1 232463715 [A/G] rs585499 1 232476942 [T/C] rs584639 1 232477143 [A/G] rs1933692 1 232480575 [T/C] rs9659038 1 232482539 [T/G] rs9660150 1 232485906 [T/C] rs1766593 1 232488827 [T/C] rs4649326 1 232490808 [A/G] exm2263853 1 232491315 [A/C] rs789360 1 232491315 [A/C] rs3120763 1 232505957 [T/C] rs17176304 1 232509380 [T/G] rs3120768 1 232512873 [A/G] exm-rs669408 1 232519150 [A/C] rs612191 1 232522748 [T/C] rs12035677 1 232526955 [A/G] rs2486022 1 232527958 [A/C] rs1890395 1 232532734 [T/C] rs600379 1 232533015 [T/C] rs586719 1 232534776 [T/C] NM_020808 SIPA1L2 EXON Silent exm159110 1 232534919 [T/C] NM_020808 SIPA1L2 EXON Missense_R1708Q variant.10717 1 232538138 [T/C] NM_020808 SIPA1L2 EXON Synonymous_K1674K exm159120 1 232539219 [T/C] NM_020808 SIPA1L2 EXON Missense_G1639S rs2275303 1 232539219 [T/C] NM_020808 SIPA1L2 EXON Missense_G1639S exm159133 1 232551300 [G/C] NM_020808 SIPA1L2 EXON Missense_P1568A rs6424228 1 232558345 [T/G] NM_020808 SIPA1L2 Silent exm159152 1 232561520 [A/G] NM_020808 SIPA1L2 EXON Missense_S1482L exm159162 1 232564288 [T/G] NM_020808 SIPA1L2 EXON Missense_M1427L exm159163 1 232564297 [A/T] NM_020808 SIPA1L2 EXON Missense_M1424L exm159166 1 232568021 [T/C] NM_020808 SIPA1L2 EXON Missense_E1410K exm159168 1 232568041 [A/G] NM_020808 SIPA1L2 EXON Missense_S1403L exm159173 1 232568146 [A/C] NM_020808 SIPA1L2 EXON Missense_V1368G rs12030201 1 232568587 [A/C] NM_020808 SIPA1L2 Silent rs12032150 1 232570234 [T/C] NM_020808 SIPA1L2 Silent exm159178 1 232574921 [T/C] NM_020808 SIPA1L2 EXON Missense_T1322A exm159179 1 232574927 [T/C] NM_020808 SIPA1L2 EXON Missense_A1320T exm159181 1 232574968 [C/G] NM_020808 SIPA1L2 EXON Missense_P1306R exm159193 1 232575219 [A/T] NM_020808 SIPA1L2 EXON Missense_S1222R variant.10718 1 232577037 [A/G] NM_020808 SIPA1L2 EXON Synonymous_H1214H exm159197 1 232577098 [T/C] NM_020808 SIPA1L2 EXON Missense_Y1194C variant.10719 1 232579433 [T/C] NM_020808 SIPA1L2 Silent rs1536322 1 232580116 [T/C] NM_020808 SIPA1L2 Silent exm159212 1 232581366 [T/C] NM_020808 SIPA1L2 EXON Missense_D1088N exm159215 1 232581426 [A/G] NM_020808 SIPA1L2 EXON Missense_R1068W exm159221 1 232581480 [T/C] NM_020808 SIPA1L2 EXON Missense_E1050K exm159222 1 232581486 [T/C] NM_020808 SIPA1L2 EXON Missense_D1048N rs4649374 1 232584061 [T/C] NM_020808 SIPA1L2 Silent rs2275302 1 232590866 [A/G] NM_020808 SIPA1L2 Silent rs12139442 1 232595148 [T/C] NM_020808 SIPA1L2 Silent exm159237 1 232596877 [T/C] NM_020808 SIPA1L2 EXON Missense_M951V rs10910527 1 232599189 [T/C] NM_020808 SIPA1L2 Silent exm159246 1 232600762 [T/C] NM_020808 SIPA1L2 EXON Missense_M882V exm159248 1 232600796 [A/C] NM_020808 SIPA1L2 EXON Missense_I870M rs11589920 1 232604178 [A/G] NM_020808 SIPA1L2 Silent exm2250875 1 232607134 [A/G] NM_020808 SIPA1L2 EXON Synonymous_T742T exm159269 1 232607220 [A/G] NM_020808 SIPA1L2 EXON Missense_P714S rs1359630 1 232608141 [T/C] NM_020808 SIPA1L2 Silent indel.10721 1 232615461 [D/I] NM_020808 SIPA1L2 EXON rs10495328 1 232633312 [T/G] NM_020808 SIPA1L2 Silent rs6671306 1 232633355 [A/G] NM_020808 SIPA1L2 Silent rs6674092 1 232638409 [A/G] NM_020808 SIPA1L2 Silent exm159295 1 232649660 [T/C] NM_020808 SIPA1L2 EXON Missense_I476V exm159298 1 232649818 [T/C] NM_020808 SIPA1L2 EXON Missense_R423Q exm159303 1 232649956 [T/C] NM_020808 SIPA1L2 EXON Missense_C377Y exm159305 1 232649979 [T/C] NM_020808 SIPA1L2 EXON Missense_M369I exm159319 1 232650164 [T/C] NM_020808 SIPA1L2 EXON Missense_T308A exm159321 1 232650208 [T/C] NM_020808 SIPA1L2 EXON Missense_R293Q exm159326 1 232650247 [T/C] NM_020808 SIPA1L2 EXON Missense_R280Q rs3795366 1 232650750 [A/G] NM_020808 SIPA1L2 EXON Synonymous_S112S variant.10723 1 232650788 [A/C] NM_020808 SIPA1L2 EXON Nonsense_E100X exm159349 1 232650916 [T/C] NM_020808 SIPA1L2 EXON Missense_N57S exm159352 1 232650941 [T/C] NM_020808 SIPA1L2 EXON Missense_T49A indel.10724 1 232651063 [I/D] NM_020808 SIPA1L2 EXON rs2357070 1 232658363 [A/G] rs943140 1 232675032 [T/G] rs789645 1 232682121 [A/G] rs789663 1 232684827 [T/C] rs789666 1 232686897 [A/G] rs796876 1 232692908 [T/G] rs789651 1 232693851 [A/C] rs1285683 1 232710264 [A/C] rs11810061 1 232721837 [T/G] rs12753593 1 232723174 [A/G] rs1334401 1 232724509 [A/C] rs11805493 1 232727525 [A/G] rs945084 1 232730293 [T/C] rs4649274 1 232735234 [A/G] rs4545285 1 232736249 [A/G] rs17805981 1 232744422 [A/G] rs2039490 1 232751245 [A/C] rs1970168 1 232761116 [A/G] rs9424568 1 232773478 [A/G] rs16857794 1 232773948 [A/G] rs6685037 1 232779187 [T/C] rs6685068 1 232782250 [T/C] rs9424572 1 232785687 [A/G] rs12568268 1 232797904 [T/C] rs17808035 1 232803067 [A/G] rs1986615 1 232804107 [T/G] rs17808157 1 232806859 [T/C] rs9424578 1 232813002 [T/G] rs10495335 1 232824691 [T/C] rs10910594 1 232831301 [T/C] rs9660252 1 232867727 [A/G] NR_110683 LINC01744 Silent rs2795425 1 232876993 [A/G] NR_110683 LINC01744 Silent rs2644466 1 232896663 [A/G] rs2814501 1 232911400 [A/G] rs6689943 1 232916501 [T/C] rs9424482 1 232919919 [T/G] rs1495986 1 232937739 [T/C] exm159362 1 232940863 [A/G] NM_019090 MAP10 EXON Missense_D32N exm159363 1 232940908 [A/G] NM_019090 MAP10 EXON Missense_T47A exm159364 1 232940944 [T/C] NM_019090 MAP10 EXON Missense_S59P exm159365 1 232940953 [T/C] NM_019090 MAP10 EXON Missense_S62P exm159367 1 232940974 [A/G] NM_019090 MAP10 EXON Missense_G69S indel.10725 1 232940993 [D/I] NM_019090 MAP10 EXON exm159371 1 232941039 [A/C] NM_019090 MAP10 EXON Missense_N90K exm159379 1 232941105 [C/G] NM_019090 MAP10 EXON Missense_Q112H exm159380 1 232941110 [T/G] NM_019090 MAP10 EXON Missense_C114F exm159382 1 232941140 [A/G] NM_019090 MAP10 EXON Missense_R124Q exm159385 1 232941167 [C/G] NM_019090 MAP10 EXON Missense_P133R exm159386 1 232941173 [G/C] NM_019090 MAP10 EXON Missense_A135G exm159388 1 232941215 [A/G] NM_019090 MAP10 EXON Missense_E149G exm159395 1 232941424 [A/G] NM_019090 MAP10 EXON Missense_A219T exm159407 1 232941677 [T/G] NM_019090 MAP10 EXON Missense_R303L exm159412 1 232941844 [A/C] NM_019090 MAP10 EXON Missense_Q359K exm159418 1 232942025 [A/G] NM_019090 MAP10 EXON Missense_G419D exm159419 1 232942028 [A/G] NM_019090 MAP10 EXON Missense_N420S indel.10728 1 232942120 [I/D] NM_019090 MAP10 EXON exm159428 1 232942163 [T/G] NM_019090 MAP10 EXON Missense_I465S indel.10729 1 232942210 [I/D] NM_019090 MAP10 EXON exm159432 1 232942276 [A/G] NM_019090 MAP10 EXON Missense_E503K exm159434 1 232942373 [T/G] NM_019090 MAP10 EXON Missense_R535M newrs140737636 1 232942469 [A/G] NM_019090 MAP10 EXON Nonsense_W567X exm159437 1 232942469 [A/G] NM_019090 MAP10 EXON Nonsense_W567X exm159439 1 232942505 [T/C] NM_019090 MAP10 EXON Missense_S579F exm159447 1 232942679 [T/C] NM_019090 MAP10 EXON Missense_L637P exm159456 1 232942926 [T/A] NM_019090 MAP10 EXON Missense_R719S exm159463 1 232943219 [A/G] NM_019090 MAP10 EXON Missense_D817G exm159480 1 232943513 [A/T] NM_019090 MAP10 EXON Missense_H915L variant.10736 1 232943607 [A/G] NM_019090 MAP10 EXON Nonsense_W946X exm159488 1 232943746 [T/G] NM_019090 MAP10 EXON Missense_V993L exm1768340 1 232943757 [C/G] NM_019090 MAP10 EXON Nonsense_Y996X exm159492 1 232943812 [T/C] NM_019090 MAP10 EXON Missense_F1015L exm2232770 1 232943888 [A/G] NM_019090 MAP10 EXON Missense_N1040S rs4649410 1 232972001 [T/C] rs11804919 1 232977131 [A/G] rs2644441 1 232982116 [T/C] rs765556 1 233010053 [T/C] rs4649415 1 233013887 [T/C] rs9424491 1 233022055 [A/G] exm2260040 1 233022124 [T/C] rs9424606 1 233023763 [T/C] exm2264965 1 233023947 [A/G] rs12403846 1 233032683 [T/C] rs9424611 1 233040790 [A/G] rs9424612 1 233040857 [T/C] rs3820124 1 233084744 [T/C] exm159504 1 233091357 [G/C] NM_032324,NR_138025,NR_138028,NR_138026,NM_001329453,NM_001329452,NR_138024,NR_138027 NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR EXON Missense_G30A,Silent,Silent,Silent,Missense_G30A,Missense_G30A,Silent,Silent exm159509 1 233091465 [A/G] NM_032324,NR_138025,NR_138028,NR_138026,NM_001329453,NM_001329452,NR_138024,NR_138027 NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR EXON Missense_G66E,Silent,Silent,Silent,Missense_G66E,Missense_G66E,Silent,Silent variant.10739 1 233092124 [T/C] NM_032324,NR_138025,NR_138028,NR_138026,NM_001329453,NM_001329452,NR_138024,NR_138027 NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR EXON Nonsense_R77X,Silent,Silent,Silent,Nonsense_R77X,Nonsense_R77X,Silent,Silent exm159512 1 233092169 [T/G] NM_032324,NR_138025,NR_138028,NR_138026,NM_001329453,NM_001329452,NR_138024,NR_138027 NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR EXON Missense_A92S,Silent,Silent,Silent,Missense_A92S,Missense_A92S,Silent,Silent variant.10740 1 233092189 [T/C] NM_032324,NR_138025,NR_138028,NR_138026,NM_001329453,NM_001329452,NR_138024,NR_138027 NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR EXON Synonymous_N98N,Silent,Silent,Silent,Synonymous_N98N,Synonymous_N98N,Silent,Silent exm159514 1 233105677 [A/G] NM_032324,NR_138025,NR_138028,NR_138026,NM_001329453,NM_001329452,NR_138024,NR_138027 NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR EXON Missense_G106E,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm159517 1 233105691 [A/G] NM_032324,NR_138025,NR_138028,NR_138026,NM_001329453,NM_001329452,NR_138024,NR_138027 NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR EXON Missense_V111I,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.10742 1 233105864 [T/C] NM_032324,NR_138025,NR_138028,NR_138026,NM_001329453,NM_001329452,NR_138024,NR_138027 NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR,NTPCR EXON Synonymous_N168N,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2885 1 233119951 [T/C] NM_014801 PCNX2 EXON Silent exm159540 1 233120167 [T/G] NM_014801 PCNX2 EXON Missense_D2099E exm159542 1 233120192 [A/G] NM_014801 PCNX2 EXON Missense_A2091V exm159543 1 233120199 [A/G] NM_014801 PCNX2 EXON Missense_P2089S exm159550 1 233121884 [T/C] NM_014801 PCNX2 EXON Missense_N2065S exm159555 1 233121951 [T/C] NM_014801 PCNX2 EXON Missense_V2043I exm159559 1 233121968 [G/C] NM_014801 PCNX2 EXON Missense_S2037T exm159560 1 233122016 [A/G] NM_014801 PCNX2 EXON Missense_L2021P exm159571 1 233122127 [T/C] NM_014801 PCNX2 EXON Missense_R1984Q exm159576 1 233122172 [A/G] NM_014801 PCNX2 EXON Missense_T1969M rs10910644 1 233130937 [T/C] NM_014801 PCNX2 Silent exm159581 1 233134086 [T/C] NM_014801 PCNX2 EXON Missense_S1901N exm159584 1 233134132 [T/C] NM_014801 PCNX2 EXON Missense_V1886M exm159591 1 233135059 [A/G] NM_014801 PCNX2 EXON Missense_R1799C exm159594 1 233136061 [T/C] NM_014801 PCNX2 EXON Missense_K1773R exm159598 1 233136181 [A/G] NM_014801 PCNX2 EXON Missense_P1733L rs6424262 1 233144081 [A/G] NM_014801 PCNX2 Silent rs6702102 1 233148271 [T/C] NM_014801 PCNX2 Silent rs3753423 1 233148513 [T/G] NM_014801 PCNX2 Silent exm159612 1 233150502 [T/C] NM_014801 PCNX2 EXON Missense_D1621N exm159614 1 233152680 [T/C] NM_014801 PCNX2 EXON Missense_R1609Q exm159615 1 233152681 [A/G] NM_014801 PCNX2 EXON Missense_R1609W variant.10748 1 233152846 [A/C] NM_014801 PCNX2 EXON Nonsense_E1554X exm159624 1 233152878 [A/G] NM_014801 PCNX2 EXON Missense_T1543M rs17453089 1 233157853 [T/C] NM_014801 PCNX2 Silent exm159629 1 233160950 [A/G] NM_014801 PCNX2 EXON Missense_A1516V rs7541947 1 233161822 [T/C] NM_014801 PCNX2 Silent rs12063911 1 233165898 [T/C] NM_014801 PCNX2 Silent rs3820119 1 233167473 [T/C] NM_014801 PCNX2 Silent rs6676202 1 233171297 [A/G] NM_014801 PCNX2 Silent rs7541494 1 233178910 [T/C] NM_014801 PCNX2 Silent exm159636 1 233190016 [T/C] NM_014801 PCNX2 EXON Missense_R1450Q rs6424272 1 233191368 [A/C] NM_014801 PCNX2 Silent rs6695322 1 233193800 [T/C] NM_014801 PCNX2 Silent rs2357427 1 233197806 [T/C] NM_014801 PCNX2 Silent rs1155739 1 233204338 [T/G] NM_014801 PCNX2 Silent rs11484500 1 233205554 [T/C] NM_014801 PCNX2 Silent rs6424278 1 233217410 [A/G] NM_014801 PCNX2 Silent rs2273676 1 233219627 [T/G] NM_014801 PCNX2 Silent rs10752798 1 233222823 [A/C] NM_014801 PCNX2 Silent variant.10749 1 233231501 [A/G] NM_014801 PCNX2 EXON Missense_H1316Y rs1040852 1 233236580 [T/G] NM_014801 PCNX2 Silent rs16858670 1 233241677 [T/C] NM_014801 PCNX2 Silent variant.10750 1 233270754 [T/C] NM_014801 PCNX2 Silent rs1016405 1 233272372 [T/C] NM_014801 PCNX2 Silent exm159668 1 233275581 [A/G] NM_014801 PCNX2 EXON Missense_F1180L exm159669 1 233275593 [A/G] NM_014801 PCNX2 EXON Missense_H1176Y rs6687497 1 233279256 [T/C] NM_014801 PCNX2 Silent rs2477859 1 233281297 [T/C] NM_014801 PCNX2 Silent rs2477863 1 233282323 [T/G] NM_014801 PCNX2 Silent rs6424281 1 233283606 [A/G] NM_014801 PCNX2 Silent rs6424282 1 233284879 [A/C] NM_014801 PCNX2 Silent rs6685114 1 233285897 [T/C] NM_014801 PCNX2 Silent rs2477868 1 233292257 [A/C] NM_014801 PCNX2 Silent exm159672 1 233296041 [A/G] NM_014801 PCNX2 EXON Missense_R1169W indel.10751 1 233296054 [I/D] NM_014801 PCNX2 EXON exm159674 1 233296056 [T/C] NM_014801 PCNX2 EXON Missense_K1164E exm159676 1 233296103 [T/C] NM_014801 PCNX2 EXON Missense_R1148H exm159677 1 233296119 [T/C] NM_014801 PCNX2 EXON Missense_V1143M exm159684 1 233297017 [T/G] NM_014801 PCNX2 EXON Synonymous_R1122R exm159685 1 233297018 [T/C] NM_014801 PCNX2 EXON Missense_R1122Q rs12036063 1 233304042 [T/C] NM_014801 PCNX2 Silent exm159694 1 233313565 [T/C] NM_014801 PCNX2 EXON Missense_K1086E exm159697 1 233313594 [T/G] NM_014801 PCNX2 EXON Missense_A1076E exm159699 1 233314839 [T/C] NM_014801 PCNX2 EXON Missense_R1050H exm159701 1 233314861 [T/C] NM_014801 PCNX2 EXON Missense_A1043T rs4649440 1 233316169 [A/G] NM_014801 PCNX2 Silent rs10797444 1 233332347 [A/G] NM_014801 PCNX2 Silent exm1768460 1 233334737 [T/C] NM_014801 PCNX2 EXON Missense_R1005Q exm159710 1 233335945 [T/C] NM_014801 PCNX2 EXON Missense_T977A exm-rs12027542 1 233340154 [A/G] NM_014801 PCNX2 Silent rs16858852 1 233342162 [T/C] NM_014801 PCNX2 Silent rs16858853 1 233342220 [T/C] NM_014801 PCNX2 Silent variant.10754 1 233353645 [A/G] NM_014801 PCNX2 EXON Synonymous_H897H variant.10755 1 233353679 [T/C] NM_014801 PCNX2 Silent exm159719 1 233353800 [T/C] NM_014801 PCNX2 EXON Missense_S879G exm159723 1 233353901 [A/G] NM_014801 PCNX2 EXON Missense_A845V rs7516050 1 233356416 [T/C] NM_014801 PCNX2 Silent rs701177 1 233357608 [T/C] NM_014801 PCNX2 Silent exm159725 1 233362973 [T/G] NM_014801 PCNX2 EXON Synonymous_R835R var_1_233363060 1 233363060 [A/G] NM_014801 PCNX2 EXON Nonsense_R806X exm159730 1 233363116 [T/C] NM_014801 PCNX2 EXON Missense_H787R variant.10757 1 233372586 [T/C] NM_014801 PCNX2 Silent exm159738 1 233372676 [A/G] NM_014801 PCNX2 EXON Missense_P758L exm159740 1 233372726 [A/T] NM_014801 PCNX2 EXON Synonymous_R741R rs10752750 1 233374589 [A/G] NM_014801 PCNX2 Silent rs11800619 1 233375713 [T/C] NM_014801 PCNX2 Silent rs7546115 1 233387566 [T/G] NM_014801 PCNX2 Silent variant.10760 1 233393769 [T/C] NM_014801 PCNX2 Silent variant.10761 1 233393773 [A/C] NM_014801 PCNX2 Silent exm159758 1 233393833 [A/G] NM_014801 PCNX2 EXON Missense_T592M exm2232774 1 233394032 [T/C] NM_014801 PCNX2 EXON Missense_R526G variant.10762 1 233394182 [A/C] NM_014801 PCNX2 EXON Nonsense_G476X exm159776 1 233394248 [T/C] NM_014801 PCNX2 EXON Missense_T454A exm1768495 1 233394445 [A/G] NM_014801 PCNX2 EXON Missense_T388I exm159784 1 233394464 [T/C] NM_014801 PCNX2 EXON Missense_S382G exm159785 1 233394479 [T/C] NM_014801 PCNX2 EXON Missense_V377I exm159796 1 233394781 [A/C] NM_014801 PCNX2 EXON Missense_W276L exm2250881 1 233394798 [A/G] NM_014801 PCNX2 EXON Synonymous_D270D indel.10763 1 233394852 [D/I] NM_014801 PCNX2 EXON exm159800 1 233394911 [T/C] NM_014801 PCNX2 EXON Missense_G233S exm159805 1 233395007 [C/G] NM_014801 PCNX2 EXON Missense_Q201E exm159807 1 233397057 [A/G] NM_014801 PCNX2 EXON Missense_A164V exm159811 1 233397855 [A/G] NM_014801 PCNX2 EXON Missense_T139M indel.10765 1 233397903 [I/D] NM_014801 PCNX2 EXON exm159815 1 233397909 [T/C] NM_014801 PCNX2 EXON Missense_N121S variant.10766 1 233397912 [T/C] NM_014801 PCNX2 Silent exm159816 1 233397912 [T/C] NM_014801 PCNX2 Silent rs1033325 1 233398713 [T/C] NM_014801 PCNX2 EXON Missense_R117K exm159817 1 233398713 [T/C] NM_014801 PCNX2 EXON Missense_R117K exm159818 1 233398749 [T/G] NM_014801 PCNX2 EXON Missense_D105A exm159823 1 233398867 [A/C] NM_014801 PCNX2 EXON Missense_A66S indel.10767 1 233398889 [D/I] NM_014801 PCNX2 EXON exm159825 1 233398893 [A/G] NM_014801 PCNX2 EXON Missense_A57V rs1033322 1 233400424 [A/G] NM_014801 PCNX2 Silent rs6697791 1 233411878 [T/C] NM_014801 PCNX2 Silent rs6700744 1 233433500 [T/C] rs1294348 1 233433909 [A/G] rs1294337 1 233439271 [A/G] rs11583461 1 233462604 [A/C] exm159839 1 233464070 [T/C] NM_032435 MAP3K21 EXON Missense_P99L rs1294303 1 233468448 [T/C] NM_032435 MAP3K21 Silent rs1294296 1 233469561 [A/C] NM_032435 MAP3K21 Silent rs7513538 1 233475385 [T/C] NM_032435 MAP3K21 Silent rs10797448 1 233484687 [T/C] NM_032435 MAP3K21 Silent rs7539016 1 233489499 [A/G] NM_032435 MAP3K21 Silent exm159863 1 233489584 [A/G] NM_032435 MAP3K21 EXON Missense_G340R exm2264966 1 233490138 [A/G] NM_032435 MAP3K21 Silent variant.10770 1 233490635 [T/C] NM_032435 MAP3K21 EXON Nonsense_Q397X exm159882 1 233490701 [A/G] NM_032435 MAP3K21 EXON Missense_D419N exm159883 1 233490704 [A/G] NM_032435 MAP3K21 EXON Missense_D420N rs4649220 1 233490776 [T/C] NM_032435 MAP3K21 Silent rs12039989 1 233498236 [T/C] NM_032435 MAP3K21 Silent exm159895 1 233507831 [T/C] NM_032435 MAP3K21 EXON Missense_R534W rs10737197 1 233508564 [A/G] NM_032435 MAP3K21 Silent exm159899 1 233511675 [A/C] NM_032435 MAP3K21 EXON Missense_E563D exm159900 1 233511680 [A/G] NM_032435 MAP3K21 EXON Missense_N565S exm159901 1 233511776 [T/C] NM_032435 MAP3K21 EXON Missense_S597F var_1_233511817 1 233511817 [A/G] NM_032435 MAP3K21 Silent exm159905 1 233512214 [G/C] NM_032435 MAP3K21 EXON Missense_T622S variant.10773 1 233512220 [T/G] NM_032435 MAP3K21 EXON Nonsense_L624X exm159907 1 233512273 [A/G] NM_032435 MAP3K21 EXON Missense_G642R exm2273755 1 233514836 [T/C] NM_032435 MAP3K21 EXON Missense_A695V exm159917 1 233514934 [A/G] NM_032435 MAP3K21 EXON Missense_V728I exm159920 1 233514975 [T/G] NM_032435 MAP3K21 EXON Missense_E741D variant.10775 1 233515030 [T/C] NM_032435 MAP3K21 EXON Nonsense_R760X rs963982 1 233515071 [T/C] NM_032435 MAP3K21 EXON Synonymous_S773S exm159930 1 233515102 [T/G] NM_032435 MAP3K21 EXON Missense_C784G exm159936 1 233515279 [T/C] NM_032435 MAP3K21 EXON Missense_P843S exm159937 1 233515292 [A/G] NM_032435 MAP3K21 EXON Missense_R847H exm2232776 1 233515426 [T/C] NM_032435 MAP3K21 EXON Missense_R892W exm159943 1 233515427 [A/G] NM_032435 MAP3K21 EXON Missense_R892Q exm159944 1 233515451 [T/C] NM_032435 MAP3K21 EXON Missense_T900I rs10489692 1 233516530 [A/G] NM_032435 MAP3K21 Silent exm159957 1 233518275 [T/C] NM_032435 MAP3K21 EXON Missense_R977C exm159958 1 233518291 [T/C] NM_032435 MAP3K21 EXON Missense_P982L exm159963 1 233518417 [A/G] NM_032435 MAP3K21 EXON Missense_R1024Q exm2250883 1 233518451 [A/G] NM_032435 MAP3K21 EXON Synonymous_L1035L rs1294231 1 233519393 [T/C] NM_032435 MAP3K21 EXON Silent rs1294230 1 233519825 [T/C] NM_032435 MAP3K21 EXON Silent rs1294187 1 233526832 [T/C] rs1743266 1 233531179 [A/G] rs10910156 1 233533418 [A/G] rs12132550 1 233534615 [T/C] rs10910157 1 233540281 [T/C] rs7539909 1 233554135 [T/C] rs6687087 1 233554853 [A/G] rs11578460 1 233599529 [A/G] rs12032895 1 233608565 [A/G] rs6687124 1 233619908 [A/G] rs6424203 1 233620063 [T/C] rs10797461 1 233620588 [A/G] rs4233060 1 233624614 [A/G] rs10797465 1 233633819 [T/G] rs1557129 1 233643110 [T/C] rs10910201 1 233647842 [T/C] rs10910204 1 233653024 [A/C] rs780214 1 233655782 [T/C] rs780218 1 233656871 [T/C] rs7540816 1 233659142 [T/C] rs1497090 1 233659290 [A/G] rs3845310 1 233676333 [T/C] rs12731522 1 233679176 [A/G] rs780240 1 233680563 [T/C] rs12740439 1 233695394 [A/G] rs780246 1 233696745 [A/G] rs7524952 1 233706578 [A/G] rs4649335 1 233714931 [A/G] rs6681321 1 233723638 [A/G] rs7542878 1 233729852 [A/C] rs12562017 1 233731047 [A/G] rs1160006 1 233733327 [T/C] rs1160005 1 233733628 [T/C] rs2226114 1 233738249 [A/C] rs1693229 1 233738342 [T/C] rs1083877 1 233742345 [T/C] rs780256 1 233743103 [T/C] rs680341 1 233746259 [A/C] exm159971 1 233750008 [T/G] NM_002245 KCNK1 EXON Missense_L31V exm159973 1 233750066 [A/G] NM_002245 KCNK1 EXON Missense_D50G rs635698 1 233753991 [A/G] NM_002245 KCNK1 Silent rs701213 1 233759918 [T/C] NM_002245,NR_039625 KCNK1,MIR4427 EXON Silent,Silent rs701214 1 233759939 [T/C] NM_002245,NR_039625 KCNK1,MIR4427 EXON Silent,Silent rs701223 1 233766695 [T/C] NM_002245 KCNK1 Silent rs4649240 1 233775512 [T/C] NM_002245 KCNK1 Silent rs6668792 1 233782052 [A/G] NM_002245 KCNK1 Silent rs2282428 1 233786170 [T/C] NM_002245 KCNK1 Silent rs12144885 1 233788316 [T/C] NM_002245 KCNK1 Silent rs780083 1 233796651 [T/G] NM_002245 KCNK1 Silent rs630938 1 233800484 [T/C] NM_002245 KCNK1 Silent rs1693210 1 233800613 [A/G] NM_002245 KCNK1 Silent exm159998 1 233802497 [A/G] NM_002245 KCNK1 EXON Missense_R171H exm160002 1 233802569 [T/G] NM_002245 KCNK1 EXON Missense_F195C exm160009 1 233802691 [A/G] NM_002245 KCNK1 EXON Missense_G236S rs7552738 1 233805172 [A/G] NM_002245 KCNK1 Silent exm160013 1 233807068 [A/G] NM_002245 KCNK1 EXON Missense_C268Y exm160014 1 233807077 [A/G] NM_002245 KCNK1 EXON Missense_H271R exm1768614 1 233807256 [A/G] NM_002245 KCNK1 EXON Missense_D331N rs565657 1 233811744 [T/C] rs611394 1 233811877 [T/C] rs595191 1 233823925 [A/G] rs963666 1 233858751 [A/G] rs12757689 1 233859026 [T/C] rs4595319 1 233861559 [T/C] rs10157147 1 233870153 [A/C] rs651185 1 233871030 [T/C] rs651210 1 233879281 [T/C] rs6676367 1 233887113 [T/C] rs1603133 1 233887989 [A/C] rs1126292 1 233893454 [A/G] rs1389967 1 233895488 [T/C] rs12036656 1 233895684 [T/C] rs1339430 1 233897400 [A/G] rs6671309 1 233911242 [A/G] rs7530423 1 233917033 [T/C] rs960899 1 233926128 [T/C] rs16859591 1 233927721 [A/G] rs16859597 1 233928628 [T/C] rs12074687 1 233932420 [T/C] rs6661049 1 233934559 [A/G] rs1494895 1 233938537 [T/C] rs4649260 1 233944143 [T/G] rs7547933 1 233950276 [A/G] rs1472283 1 233951659 [T/C] rs1494899 1 233954283 [A/C] rs2884385 1 233955738 [T/C] rs1948501 1 233957343 [A/G] rs1948502 1 233957385 [A/C] rs12086015 1 233976729 [A/G] rs6679063 1 233988285 [T/C] rs2088108 1 233993871 [A/G] rs923975 1 233997870 [A/C] rs16859749 1 233999167 [A/C] rs10910288 1 233999944 [T/G] rs16859773 1 234016310 [A/G] rs10910301 1 234018653 [A/G] rs4442431 1 234020481 [T/C] rs7539340 1 234021539 [A/G] rs10910308 1 234039857 [T/C] rs4920175 1 234055399 [T/C] NM_173508 SLC35F3 Silent rs11802061 1 234063801 [A/G] NM_173508 SLC35F3 Silent rs11811551 1 234065250 [A/G] NM_173508 SLC35F3 Silent rs4920239 1 234068161 [A/G] NM_173508 SLC35F3 Silent rs1892298 1 234080599 [T/C] NM_173508 SLC35F3 Silent rs2358111 1 234092567 [A/C] NM_173508 SLC35F3 Silent exm2250888 1 234097138 [A/G] NM_173508 SLC35F3 Silent rs4330979 1 234098168 [T/G] NM_173508 SLC35F3 Silent rs9435588 1 234099392 [A/G] NM_173508 SLC35F3 Silent rs12049593 1 234099819 [T/C] NM_173508 SLC35F3 Silent rs7556173 1 234105211 [T/G] NM_173508 SLC35F3 Silent rs11587514 1 234107883 [T/C] NM_173508 SLC35F3 Silent rs12045592 1 234110847 [T/C] NM_173508 SLC35F3 Silent rs6672824 1 234128271 [A/C] NM_173508 SLC35F3 Silent rs4623775 1 234139581 [A/C] NM_173508 SLC35F3 Silent rs6662498 1 234142710 [T/C] NM_173508 SLC35F3 Silent rs6586363 1 234143175 [A/G] NM_173508 SLC35F3 Silent rs1458597 1 234154862 [T/C] NM_173508 SLC35F3 Silent rs4920167 1 234164519 [T/C] NM_173508 SLC35F3 Silent rs4575150 1 234166056 [T/C] NM_173508 SLC35F3 Silent exm2268982 1 234166129 [T/C] NM_173508 SLC35F3 Silent rs2199074 1 234166129 [T/C] NM_173508 SLC35F3 Silent rs1458587 1 234170887 [A/G] NM_173508 SLC35F3 Silent rs7516956 1 234172161 [T/G] NM_173508 SLC35F3 Silent rs9435500 1 234198222 [A/G] NM_173508 SLC35F3 Silent rs4076949 1 234202145 [T/C] NM_173508 SLC35F3 Silent rs16842518 1 234217355 [T/C] NM_173508 SLC35F3 Silent rs10797527 1 234250281 [A/G] NM_173508 SLC35F3 Silent rs6683325 1 234260086 [A/G] NM_173508 SLC35F3 Silent rs17512304 1 234261839 [T/G] NM_173508 SLC35F3 Silent rs2067797 1 234264555 [A/C] NM_173508 SLC35F3 Silent rs6688304 1 234270917 [A/G] NM_173508 SLC35F3 Silent rs9435565 1 234274658 [A/G] NM_173508 SLC35F3 Silent rs1563693 1 234277445 [T/C] NM_173508 SLC35F3 Silent rs11804770 1 234281220 [A/G] NM_173508 SLC35F3 Silent rs6586372 1 234293730 [A/G] NM_173508 SLC35F3 Silent rs6586373 1 234293963 [T/G] NM_173508 SLC35F3 Silent rs6681198 1 234296453 [T/C] NM_173508 SLC35F3 Silent rs16842703 1 234306562 [A/G] NM_173508 SLC35F3 Silent rs4920216 1 234310757 [A/G] NM_173508 SLC35F3 Silent rs10910372 1 234315938 [A/G] NM_173508 SLC35F3 Silent rs13328660 1 234320769 [A/G] NM_173508 SLC35F3 Silent rs491673 1 234344295 [A/G] NM_173508 SLC35F3 Silent rs10910383 1 234352349 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs4333882 1 234352899 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent exm160044 1 234367294 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 EXON Missense_V139M,Missense_V70M exm160046 1 234367309 [T/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 EXON Missense_C144G,Missense_C75G exm160047 1 234367327 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 EXON Missense_A150T,Missense_A81T rs4027081 1 234371523 [T/C] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs12119646 1 234382599 [T/C] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs689345 1 234385050 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs487890 1 234389425 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs6695462 1 234393208 [T/C] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs7536858 1 234405404 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs532495 1 234407996 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs12037730 1 234411855 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs10910404 1 234412292 [T/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs7552485 1 234415806 [T/C] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs1001737 1 234417623 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs7518644 1 234421180 [T/C] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs542494 1 234424289 [T/C] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs10752781 1 234425332 [T/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs620939 1 234426240 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs686182 1 234428792 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs1570105 1 234429727 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs628407 1 234432465 [T/C] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs501664 1 234435865 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs642487 1 234438235 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs594657 1 234449697 [T/C] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs6662048 1 234449742 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs1407149 1 234452980 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent rs474208 1 234457499 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 Silent,Silent exm160082 1 234458787 [A/G] NM_173508,NM_001300845 SLC35F3,SLC35F3 EXON Missense_N424S,Missense_N355S rs4128841 1 234468324 [T/C] rs2991953 1 234475832 [A/G] rs7536709 1 234492059 [T/C] exm160099 1 234509561 [A/C] NM_001206641,NM_001012985,NM_001301733 COA6,COA6,COA6 EXON Silent,Missense_H33N,Silent exm160101 1 234509568 [G/C] NM_001206641,NM_001012985,NM_001301733 COA6,COA6,COA6 EXON Silent,Missense_P35R,Silent exm160102 1 234509586 [A/G] NM_001206641,NM_001012985,NM_001301733 COA6,COA6,COA6 EXON Silent,Missense_S41N,Silent newrs146440690 1 234510112 [T/G] NM_001206641,NM_001012985,NM_001301733 COA6,COA6,COA6 EXON Nonsense_E117X,Nonsense_E87X,Nonsense_E41X rs2752 1 234513871 [A/C] NM_001206641,NM_001012985,NM_001301733 COA6,COA6,COA6 Silent,Silent,Silent exm2268844 1 234524045 [T/C] rs7527165 1 234524045 [T/C] rs6669190 1 234525940 [T/C] indel.10784 1 234529110 [D/I] NM_005646 TARBP1 EXON exm160139 1 234529406 [A/G] NM_005646 TARBP1 EXON Missense_P1474L exm160140 1 234529433 [A/G] NM_005646 TARBP1 EXON Missense_I1465T exm160141 1 234529446 [T/C] NM_005646 TARBP1 EXON Missense_I1461V exm2232790 1 234529508 [T/C] NM_005646 TARBP1 EXON Missense_R1440H rs2175593 1 234529570 [A/G] NM_005646 TARBP1 EXON Synonymous_V1419V exm160155 1 234534241 [A/G] NM_005646 TARBP1 EXON Missense_I1377T exm160160 1 234536947 [A/G] NM_005646 TARBP1 EXON Missense_L1351F exm160161 1 234536951 [G/C] NM_005646 TARBP1 EXON Missense_H1349Q exm160163 1 234536985 [T/C] NM_005646 TARBP1 EXON Missense_R1338H rs12031728 1 234537992 [A/G] NM_005646 TARBP1 Silent rs3820605 1 234540466 [T/C] NM_005646 TARBP1 Silent indel.10785 1 234541735 [D/I] NM_005646 TARBP1 EXON exm1768776 1 234546246 [A/G] NM_005646 TARBP1 EXON Missense_T1246M rs12081302 1 234552363 [T/C] NM_005646 TARBP1 Silent exm160181 1 234556462 [G/C] NM_005646 TARBP1 EXON Missense_P1181A exm160182 1 234556479 [A/G] NM_005646 TARBP1 EXON Missense_T1175I rs750813 1 234557918 [A/C] NM_005646 TARBP1 Silent exm160192 1 234561498 [T/C] NM_005646 TARBP1 EXON Missense_K1122R variant.10788 1 234561540 [T/C] NM_005646 TARBP1 Silent 1KG_1_234563095 1 234563095 [D/I] NM_005646 TARBP1 EXON exm160201 1 234563332 [A/G] NM_005646 TARBP1 EXON Missense_R1081C exm160211 1 234564902 [A/C] NM_005646 TARBP1 EXON Missense_A1014S exm160217 1 234564951 [T/A] NM_005646 TARBP1 EXON Missense_F997L variant.10791 1 234565161 [T/C] NM_005646 TARBP1 Silent exm160224 1 234565176 [T/C] NM_005646 TARBP1 EXON Missense_V953M exm160228 1 234565208 [T/C] NM_005646 TARBP1 EXON Missense_D942G indel.10792 1 234565218 [D/I] NM_005646 TARBP1 EXON indel.10793 1 234565292 [I/D] NM_005646 TARBP1 EXON indel.10794 1 234565327 [I/D] NM_005646 TARBP1 EXON variant.10795 1 234565390 [T/C] NM_005646 TARBP1 EXON Nonsense_W881X rs915184 1 234565787 [A/G] NM_005646 TARBP1 Silent exm160240 1 234565854 [A/G] NM_005646 TARBP1 EXON Missense_A863V exm1768795 1 234565893 [A/G] NM_005646 TARBP1 EXON Missense_T850M exm160246 1 234565905 [T/G] NM_005646 TARBP1 EXON Missense_Q846P exm160256 1 234569301 [T/C] NM_005646 TARBP1 EXON Missense_R750H rs6682410 1 234570685 [A/G] NM_005646 TARBP1 Silent exm160257 1 234573025 [T/C] NM_005646 TARBP1 EXON Missense_N743S variant.10797 1 234582577 [T/G] NM_005646 TARBP1 EXON Nonsense_C702X exm160262 1 234582651 [T/C] NM_005646 TARBP1 EXON Missense_S678G exm160265 1 234582720 [T/C] NM_005646 TARBP1 EXON Missense_G655R exm-rs10489896 1 234583618 [T/C] NM_005646 TARBP1 Silent exm160271 1 234584305 [T/G] NM_005646 TARBP1 EXON Missense_P628T rs270524 1 234585003 [A/G] NM_005646 TARBP1 Silent rs1619856 1 234585790 [T/C] NM_005646 TARBP1 Silent exm160272 1 234586175 [T/C] NM_005646 TARBP1 EXON Synonymous_E620E exm160273 1 234586195 [C/G] NM_005646 TARBP1 EXON Missense_V614L exm160275 1 234586237 [T/C] NM_005646 TARBP1 EXON Missense_T600A rs4920247 1 234587008 [T/C] NM_005646 TARBP1 Silent variant.10798 1 234593436 [A/G] NM_005646 TARBP1 EXON Nonsense_R567X exm1768813 1 234594981 [A/C] NM_005646 TARBP1 EXON Missense_D543Y exm160291 1 234595070 [T/C] NM_005646 TARBP1 EXON Missense_D513G exm160292 1 234596017 [C/G] NM_005646 TARBP1 EXON Missense_L509V exm160295 1 234596111 [T/C] NM_005646 TARBP1 EXON Missense_M477I exm160296 1 234596119 [A/G] NM_005646 TARBP1 EXON Missense_R475W rs270505 1 234600919 [A/G] NM_005646 TARBP1 Silent exm160303 1 234601414 [A/G] NM_005646 TARBP1 EXON Missense_S430F exm160307 1 234601430 [T/C] NM_005646 TARBP1 EXON Missense_A425T rs3736838 1 234601529 [T/C] NM_005646 TARBP1 Silent exm160316 1 234603322 [T/A] NM_005646 TARBP1 EXON Missense_S392T rs270502 1 234603386 [T/G] NM_005646 TARBP1 EXON Synonymous_L370L rs6694349 1 234606799 [T/C] NM_005646 TARBP1 Silent variant.10800 1 234606929 [A/G] NM_005646 TARBP1 Silent variant.10801 1 234606933 [T/C] NM_005646 TARBP1 Silent rs528774 1 234611332 [A/C] NM_005646 TARBP1 Silent rs544322 1 234612995 [T/C] NM_005646 TARBP1 Silent exm160329 1 234613920 [T/G] NM_005646 TARBP1 EXON Missense_N310K rs4920256 1 234616522 [A/G] rs3951276 1 234633308 [A/G] rs6667048 1 234636107 [A/G] rs2026044 1 234636595 [T/C] rs2793861 1 234638534 [A/G] rs6673545 1 234653716 [A/G] rs523638 1 234658886 [T/C] rs271738 1 234662890 [A/G] rs271740 1 234664631 [A/G] NR_038426 LINC01354 EXON Silent rs271760 1 234680657 [T/C] rs4920260 1 234689712 [T/C] exm-rs12142968 1 234694041 [T/G] rs9970996 1 234701910 [A/G] rs6663049 1 234704046 [T/C] rs955613 1 234716506 [T/C] rs955612 1 234716593 [A/C] rs744487 1 234726012 [A/C] exm-rs744487 1 234726012 [A/C] indel.10807 1 234742890 [D/I] NM_001077397,NM_182972 IRF2BP2,IRF2BP2 EXON exm160390 1 234743467 [T/G] NM_001077397,NM_182972 IRF2BP2,IRF2BP2 EXON Missense_T378P,Missense_T394P exm160401 1 234744239 [A/G] NM_001077397,NM_182972 IRF2BP2,IRF2BP2 EXON Silent,Synonymous_G334G rs1887917 1 234752588 [A/G] rs10797557 1 234754829 [T/G] rs629199 1 234764103 [T/C] rs607407 1 234769499 [A/C] NR_033927 LINC00184 EXON Silent rs6683807 1 234771816 [A/G] rs10910479 1 234779059 [A/C] rs564212 1 234791721 [T/C] NR_125944 LOC101927787 Silent rs636705 1 234803619 [T/C] rs12071518 1 234805957 [T/C] rs6702559 1 234806995 [T/C] rs621901 1 234815297 [T/C] rs588965 1 234820827 [T/G] rs2920596 1 234833424 [A/G] rs10910487 1 234833429 [T/C] rs1753579 1 234837359 [T/C] rs6695664 1 234846396 [A/G] rs543837 1 234850303 [T/C] rs556107 1 234853059 [T/C] rs514230 1 234858597 [A/T] rs478425 1 234863602 [T/G] NR_038856 LINC01132 Silent rs822928 1 234873275 [A/C] rs12133803 1 234883182 [T/C] rs2582651 1 234889089 [A/G] rs3844069 1 234903771 [A/G] rs12727896 1 234903911 [A/G] rs2439500 1 234906829 [T/C] rs4626924 1 234909298 [T/C] rs3914503 1 234956342 [A/G] rs7516159 1 234957569 [T/C] rs2796160 1 234966277 [A/C] exm-rs2069084 1 234984988 [A/G] rs2802985 1 235007056 [T/C] exm2264968 1 235011725 [A/G] rs1515656 1 235017637 [A/G] rs1515658 1 235017928 [T/G] rs16844145 1 235025575 [A/G] rs2673969 1 235030542 [T/C] rs2674005 1 235048988 [T/C] rs908329 1 235051501 [A/C] rs12562007 1 235053032 [A/G] rs6671950 1 235053101 [A/G] rs4920200 1 235056669 [A/G] rs908319 1 235062181 [A/G] rs12123230 1 235069505 [A/G] rs10797571 1 235077996 [T/C] rs2802963 1 235084066 [A/G] rs908327 1 235092600 [A/C] rs7531062 1 235095183 [A/G] NR_125945 LOC101927851 Silent rs16844296 1 235108308 [A/G] rs6586361 1 235119382 [T/G] rs7412124 1 235126144 [A/G] rs9727449 1 235152757 [T/C] rs34360045 1 235190683 [A/G] kgp2975092 1 235191818 [T/C] rs34099250 1 235191909 [A/G] rs9662936 1 235248412 [T/C] rs7544301 1 235263162 [T/C] rs7554276 1 235268017 [T/G] indel.10810 1 235295173 [I/D] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 EXON exm160468 1 235295240 [A/G] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 EXON Missense_R361C,Silent,Silent,Silent,Missense_R360C,Silent exm2232795 1 235295263 [T/A] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 EXON Missense_M353K,Silent,Silent,Silent,Missense_M352K,Silent exm160484 1 235301421 [A/G] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 EXON Missense_T257M,Silent,Silent,Silent,Missense_T257M,Silent rs2273741 1 235315711 [T/C] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 Silent,Silent,Silent,Silent,Silent,Silent indel.10813 1 235318196 [I/D] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 EXON exm160500 1 235318305 [T/C] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 EXON Missense_D163G,Silent,Silent,Silent,Missense_D163G,Silent exm160501 1 235318339 [T/C] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 EXON Missense_V152I,Silent,Silent,Silent,Missense_V152I,Silent rs16832455 1 235322000 [A/G] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 Silent,Silent,Silent,Silent,Silent,Silent exm160510 1 235323956 [T/C] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 EXON Missense_I79V,Silent,Silent,Silent,Missense_I79V,Silent exm160511 1 235323959 [T/C] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 EXON Missense_T78A,Silent,Silent,Silent,Missense_T78A,Silent exm160513 1 235324212 [A/G] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 EXON Missense_P75L,Silent,Silent,Silent,Missense_P75L,Silent exm160515 1 235324219 [A/G] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 EXON Missense_P73S,Silent,Silent,Silent,Missense_P73S,Silent exm160518 1 235324276 [T/C] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 EXON Missense_G54S,Silent,Silent,Silent,Missense_G54S,Silent exm2250895 1 235324298 [T/C] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 EXON Synonymous_E46E,Silent,Silent,Silent,Synonymous_E46E,Silent exm160524 1 235324498 [A/G] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 EXON Missense_V15A,Silent,Silent,Silent,Missense_V15A,Silent exm160526 1 235324506 [A/C] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 EXON Missense_K12N,Silent,Silent,Silent,Missense_K12N,Silent exm160527 1 235324510 [T/C] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 EXON Missense_R11K,Silent,Silent,Silent,Missense_R11K,Silent variant.10817 1 235324560 [T/C] NM_015014,NR_144491,NR_144490,NR_027762,NM_001346738,NR_144492 RBM34,RBM34,RBM34,RBM34,RBM34,RBM34 EXON Silent,Silent,Silent,Silent,Silent,Silent rs4660114 1 235328341 [A/G] exm160546 1 235338517 [T/G] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Missense_K1216Q,Silent,Missense_K1216Q,Missense_K1130Q exm160554 1 235338597 [T/C] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Missense_Q1189R,Silent,Missense_Q1189R,Missense_Q1103R exm160556 1 235338600 [A/G] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Missense_T1188M,Silent,Missense_T1188M,Missense_T1102M exm160557 1 235338618 [A/G] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Missense_T1182I,Silent,Missense_T1182I,Missense_T1096I exm160571 1 235345058 [T/C] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Missense_R1059Q,Silent,Missense_R1059Q,Missense_R973Q exm160574 1 235345115 [T/C] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Missense_R1040Q,Silent,Missense_R1040Q,Missense_R954Q exm160576 1 235345215 [T/C] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Missense_R1007G,Silent,Missense_R1007G,Missense_R921G exm160578 1 235345317 [T/C] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Missense_A973T,Silent,Missense_A973T,Missense_A887T exm160579 1 235345346 [T/C] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Missense_G963E,Silent,Missense_G963E,Missense_G877E exm160590 1 235345674 [T/C] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Missense_M854V,Silent,Missense_M854V,Missense_M768V exm160601 1 235345832 [A/G] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Missense_T801I,Silent,Missense_T801I,Missense_T715I exm160603 1 235345877 [A/G] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Missense_I786T,Silent,Missense_I786T,Missense_I700T variant.10819 1 235377193 [A/G] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Missense_R578W,Silent,Missense_R578W,Silent exm2250896 1 235383161 [T/C] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Synonymous_V510V,Silent,Synonymous_V510V,Synonymous_V510V exm160632 1 235383177 [T/C] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Missense_D505G,Silent,Missense_D505G,Missense_D505G exm160639 1 235383742 [G/C] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Missense_V428L,Silent,Missense_V428L,Missense_V428L exm160648 1 235392565 [T/C] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Missense_D293G,Silent,Missense_D293G,Missense_D293G exm1768928 1 235403741 [A/G] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Missense_S158P,Silent,Missense_S158P,Missense_S158P variant.10821 1 235409735 [A/G] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B EXON Missense_I149T,Silent,Missense_I149T,Missense_I149T rs10925413 1 235476733 [A/G] NM_016374,NR_135074,NM_001206794,NM_031371 ARID4B,ARID4B,ARID4B,ARID4B Silent,Silent,Silent,Silent rs10925482 1 235499263 [A/G] NM_001037277,NR_036605 GGPS1,GGPS1 Silent,Silent indel.10822 1 235505076 [D/I] NM_001037277,NR_036605 GGPS1,GGPS1 EXON exm160686 1 235505621 [A/C] NM_001037277,NR_036605 GGPS1,GGPS1 EXON Missense_A146D,Silent indel.10823 1 235505707 [D/I] NM_001037277,NR_036605 GGPS1,GGPS1 EXON exm160691 1 235505849 [C/G] NM_001037277,NR_036605 GGPS1,GGPS1 EXON Missense_W222S,Silent exm2232801 1 235505879 [A/G] NM_001037277,NR_036605 GGPS1,GGPS1 EXON Missense_N232S,Silent newrs140794174 1 235506076 [T/G] NM_001037277,NR_036605 GGPS1,GGPS1 EXON Nonsense_E298X,Silent rs10925503 1 235508463 [T/C] rs2789365 1 235515534 [T/C] rs7554192 1 235523067 [A/C] rs6699315 1 235525253 [A/G] rs12745648 1 235539020 [A/G] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE Silent,Silent,Silent,Silent exm160700 1 235543384 [T/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Missense_A7V,Missense_A7V,Missense_A7V,Silent exm160701 1 235543465 [A/G] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE Silent,Silent,Silent,Silent indel.10827 1 235564860 [D/I] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON exm160705 1 235564903 [A/G] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE Silent,Silent,Silent,Silent rs4659520 1 235575321 [T/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE Silent,Silent,Silent,Silent newrs148321184 1 235577747 [A/G] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE Silent,Silent,Silent,Silent exm160708 1 235577753 [T/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Missense_P64L,Missense_P64L,Missense_P64L,Silent exm1768956 1 235577756 [A/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Missense_T65K,Missense_T65K,Missense_T65K,Silent exm160709 1 235577776 [T/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Missense_P72S,Missense_P72S,Missense_P72S,Silent exm160711 1 235577815 [A/G] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Missense_I85V,Missense_I85V,Missense_I85V,Silent exm160714 1 235577905 [A/G] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Missense_G115S,Missense_G115S,Missense_G115S,Silent exm160715 1 235582810 [A/G] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Missense_V132I,Missense_V132I,Missense_V132I,Missense_V19I exm160717 1 235582862 [G/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Missense_A149G,Missense_A149G,Missense_A149G,Missense_A36G newrs12757197 1 235590559 [A/G] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE Silent,Silent,Silent,Silent exm160723 1 235594028 [A/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Missense_K190T,Missense_K190T,Missense_K190T,Missense_K77T exm1768967 1 235594040 [T/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Missense_P194L,Missense_P194L,Missense_P194L,Missense_P81L exm160726 1 235594073 [T/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Missense_V205A,Missense_V205A,Missense_V205A,Missense_V92A exm1768969 1 235597525 [T/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Missense_R223W,Missense_R274W,Missense_R223W,Missense_R110W exm2250897 1 235598973 [T/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE Silent,Silent,Silent,Silent exm160733 1 235599702 [T/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Synonymous_L279L,Synonymous_L330L,Synonymous_L279L,Synonymous_L166L exm160734 1 235599714 [A/T] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Missense_I283F,Missense_I334F,Missense_I283F,Missense_I170F newrs182294717 1 235599770 [A/G] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE Silent,Silent,Silent,Silent exm160738 1 235599875 [C/G] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Missense_M305I,Missense_M356I,Missense_M305I,Missense_M192I exm-rs6429082 1 235600129 [T/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE Silent,Silent,Silent,Silent rs6429082 1 235600129 [T/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE Silent,Silent,Silent,Silent exm160745 1 235600731 [T/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Missense_T353M,Missense_T404M,Missense_T353M,Missense_T240M newrs139840338 1 235600736 [T/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Nonsense_R355X,Nonsense_R406X,Nonsense_R355X,Nonsense_R242X exm160748 1 235600736 [T/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Nonsense_R355X,Nonsense_R406X,Nonsense_R355X,Nonsense_R242X exm1768989 1 235602102 [T/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Missense_R379W,Missense_R430W,Missense_R379W,Missense_R266W exm160756 1 235602193 [A/G] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Missense_E409G,Missense_E460G,Missense_E409G,Missense_E296G variant.10837 1 235602195 [T/G] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Nonsense_E410X,Nonsense_E461X,Nonsense_E410X,Nonsense_E297X exm160762 1 235606224 [T/C] NM_001079515,NM_001287801,NM_003193,NM_001287802 TBCE,TBCE,TBCE,TBCE EXON Missense_P466L,Missense_P517L,Missense_P466L,Missense_P353L exm160766 1 235611703 [A/G] NM_001079515,NM_001287801,NM_003193,NM_001287802,NM_152490 TBCE,TBCE,TBCE,TBCE,B3GALNT2 EXON Missense_R480H,Missense_R531H,Missense_R480H,Missense_R367H,Silent exm160768 1 235611729 [A/C] NM_001079515,NM_001287801,NM_003193,NM_001287802,NM_152490 TBCE,TBCE,TBCE,TBCE,B3GALNT2 EXON Missense_L489I,Missense_L540I,Missense_L489I,Missense_L376I,Silent variant.10840 1 235611756 [T/G] NM_001079515,NM_001287801,NM_003193,NM_001287802,NM_152490 TBCE,TBCE,TBCE,TBCE,B3GALNT2 EXON Silent,Silent,Silent,Silent,Silent exm1768996 1 235612070 [A/G] NM_001079515,NM_001287801,NM_003193,NM_001287802,NM_152490 TBCE,TBCE,TBCE,TBCE,B3GALNT2 EXON Missense_R526Q,Missense_R577Q,Missense_R526Q,Missense_R413Q,Silent exm160788 1 235617583 [T/C] NM_152490 B3GALNT2 EXON Missense_E399G exm160789 1 235617601 [T/C] NM_152490 B3GALNT2 EXON Missense_R393Q variant.10843 1 235617612 [T/C] NM_152490 B3GALNT2 EXON Nonsense_W389X rs704710 1 235621026 [A/G] NM_152490 B3GALNT2 Silent exm160802 1 235622071 [A/G] NM_152490 B3GALNT2 EXON Missense_L289F rs704716 1 235637421 [A/G] NM_152490,NM_001277155 B3GALNT2,B3GALNT2 Silent,Silent exm160812 1 235643446 [T/C] NM_152490,NM_001277155 B3GALNT2,B3GALNT2 EXON Missense_R192H,Missense_R233H rs10925824 1 235645079 [T/C] NM_152490,NM_001277155 B3GALNT2,B3GALNT2 Silent,Silent variant.10845 1 235647633 [T/C] NM_152490,NM_001277155 B3GALNT2,B3GALNT2 Silent,Silent newrs146580273 1 235647638 [T/C] NM_152490,NM_001277155 B3GALNT2,B3GALNT2 EXON Synonymous_E185E,Synonymous_E226E exm160817 1 235647693 [T/C] NM_152490,NM_001277155 B3GALNT2,B3GALNT2 EXON Missense_N167S,Missense_N208S exm160823 1 235647783 [A/G] NM_152490,NM_001277155 B3GALNT2,B3GALNT2 EXON Missense_S137L,Missense_S178L exm2275216 1 235652575 [T/C] NM_152490,NM_001277155 B3GALNT2,B3GALNT2 Silent,Silent exm160837 1 235658082 [T/C] NM_152490,NM_001277155 B3GALNT2,B3GALNT2 EXON Missense_V57M,Missense_V98M exm160838 1 235658099 [T/C] NM_152490,NM_001277155 B3GALNT2,B3GALNT2 EXON Missense_Y51C,Missense_Y92C rs291340 1 235674379 [T/C] rs291365 1 235688043 [A/G] rs16832331 1 235703020 [T/C] rs10802797 1 235705673 [T/C] rs6429146 1 235710276 [A/C] rs12756717 1 235714162 [A/G] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 EXON Silent,Silent,Silent exm160849 1 235715488 [T/C] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 EXON Missense_R50Q,Missense_R50Q,Missense_R50Q rs14326 1 235715523 [A/G] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 EXON Synonymous_A38A,Synonymous_A38A,Synonymous_A38A rs291353 1 235720898 [T/C] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 Silent,Silent,Silent exm-rs291353 1 235720898 [T/C] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 Silent,Silent,Silent rs508208 1 235727816 [T/C] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 Silent,Silent,Silent rs6674438 1 235738515 [T/C] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 Silent,Silent,Silent rs2841873 1 235743992 [T/G] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 Silent,Silent,Silent rs2774335 1 235747005 [T/C] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 Silent,Silent,Silent rs881070 1 235756737 [T/C] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 Silent,Silent,Silent rs2774320 1 235756821 [T/G] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 Silent,Silent,Silent rs12140087 1 235766062 [T/C] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 Silent,Silent,Silent rs17547995 1 235766162 [T/C] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 Silent,Silent,Silent exm2265091 1 235771589 [A/G] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 Silent,Silent,Silent rs6429196 1 235774836 [T/C] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 Silent,Silent,Silent rs10926264 1 235779137 [T/C] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 Silent,Silent,Silent rs11800419 1 235784360 [T/C] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 Silent,Silent,Silent rs6429206 1 235790922 [T/G] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 Silent,Silent,Silent rs7554426 1 235802387 [T/G] NM_004485,NM_001098721,NM_001098722 GNG4,GNG4,GNG4 Silent,Silent,Silent rs10159416 1 235814507 [A/G] rs12091646 1 235821815 [T/C] exm160872 1 235827874 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_V3696I,Missense_V3696I rs10495366 1 235849867 [T/C] NM_000081,NM_001301365 LYST,LYST Silent,Silent rs7545788 1 235849939 [A/G] NM_000081,NM_001301365 LYST,LYST Silent,Silent exm160885 1 235856682 [A/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_V3557L,Missense_V3557L exm160890 1 235860421 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_R3509Q,Missense_R3509Q exm2232805 1 235860456 [G/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_Q3497H,Missense_Q3497H exm160892 1 235860470 [A/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_F3493L,Missense_F3493L exm160901 1 235866186 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_R3412H,Missense_R3412H variant.10848 1 235872391 [A/C] NM_000081,NM_001301365 LYST,LYST EXON Synonymous_A3381A,Synonymous_A3381A variant.10849 1 235872468 [A/G] NM_000081,NM_001301365 LYST,LYST EXON Nonsense_Q3356X,Nonsense_Q3356X 1KG_1_235875381 1 235875381 [I/D] NM_000081,NM_001301365 LYST,LYST EXON rs6663926 1 235877739 [T/C] NM_000081,NM_001301365 LYST,LYST Silent,Silent variant.10850 1 235878496 [T/C] NM_000081,NM_001301365 LYST,LYST Silent,Silent rs12074371 1 235883125 [T/G] NM_000081,NM_001301365 LYST,LYST Silent,Silent exm160924 1 235884048 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_N3158S,Missense_N3158S exm160928 1 235884144 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_G3126D,Missense_G3126D indel.10851 1 235887392 [D/I] NM_000081,NM_001301365 LYST,LYST EXON rs2208384 1 235890096 [A/G] NM_000081,NM_001301365 LYST,LYST Silent,Silent exm160942 1 235894231 [C/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_P2987R,Missense_P2987R exm160944 1 235894366 [A/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_N2971K,Missense_N2971K exm160949 1 235894473 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_V2936I,Missense_V2936I exm160951 1 235896947 [A/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_I2886T,Missense_I2886T exm1769075 1 235896980 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_R2875H,Missense_R2875H exm160955 1 235897182 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_E2854K,Missense_E2854K exm160962 1 235897907 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_G2804D,Missense_G2804D exm160965 1 235897950 [T/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_K2790Q,Missense_K2790Q exm160975 1 235904866 [G/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_E2738D,Missense_E2738D exm160978 1 235907287 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_V2715I,Missense_V2715I rs10926565 1 235909485 [T/C] NM_000081,NM_001301365 LYST,LYST Silent,Silent exm2250899 1 235909697 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Synonymous_T2637T,Synonymous_T2637T exm160990 1 235909776 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_R2611H,Missense_R2611H exm160993 1 235909815 [T/A] NM_000081,NM_001301365 LYST,LYST EXON Missense_F2598Y,Missense_F2598Y variant.10854 1 235914508 [A/G] NM_000081,NM_001301365 LYST,LYST Silent,Silent exm160998 1 235914653 [A/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_V2546G,Missense_V2546G exm161001 1 235915447 [A/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_L2495F,Missense_L2495F exm161006 1 235916419 [T/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_A2462E,Missense_A2462E exm161026 1 235922341 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_D2271G,Missense_D2271G exm161028 1 235922371 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_R2261H,Missense_R2261H exm161030 1 235922443 [T/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_Q2237P,Missense_Q2237P exm161032 1 235922471 [C/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_D2228H,Missense_D2228H exm161034 1 235922521 [G/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_P2211R,Missense_P2211R exm161043 1 235922671 [T/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_E2161A,Missense_E2161A exm161045 1 235922698 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_S2152N,Missense_S2152N exm161051 1 235922861 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_A2098T,Missense_A2098T exm161056 1 235926062 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_M2071V,Missense_M2071V indel.10855 1 235929374 [D/I] NM_000081,NM_001301365 LYST,LYST exm161068 1 235929555 [A/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_T1982I,Missense_T1982I exm161071 1 235933535 [G/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_Q1949H,Missense_Q1949H exm161073 1 235933593 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_G1930D,Missense_G1930D exm161080 1 235937250 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_M1892I,Missense_M1892I exm161082 1 235937290 [T/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_T1879N,Missense_T1879N exm161087 1 235938329 [A/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_S1840A,Missense_S1840A exm161088 1 235938348 [T/A] NM_000081,NM_001301365 LYST,LYST EXON Missense_L1833F,Missense_L1833F exm161093 1 235940449 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_N1792D,Missense_N1792D rs7530527 1 235940600 [A/G] NM_000081,NM_001301365 LYST,LYST EXON Synonymous_L1741L,Synonymous_L1741L rs6696123 1 235945294 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Synonymous_L1652L,Synonymous_L1652L exm161115 1 235950666 [A/T] NM_000081,NM_001301365 LYST,LYST EXON Missense_M1566L,Missense_M1566L exm161120 1 235952052 [A/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_A1546V,Missense_A1546V exm1769131 1 235952111 [T/A] NM_000081,NM_001301365 LYST,LYST EXON Missense_N1526K,Missense_N1526K variant.10859 1 235952133 [A/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_P1519L,Missense_P1519L exm161133 1 235955172 [T/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_H1457P,Missense_H1457P exm161135 1 235955205 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_R1446Q,Missense_R1446Q exm161144 1 235963637 [T/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_D1330A,Missense_D1330A exm161147 1 235964212 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_I1300V,Missense_I1300V exm1769142 1 235964353 [T/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_S1253R,Missense_S1253R exm161156 1 235966273 [A/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_V1216A,Missense_V1216A exm161165 1 235969077 [A/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_S1120I,Missense_S1120I exm161168 1 235969125 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_R1104Q,Missense_R1104Q exm161171 1 235969228 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_I1070V,Missense_I1070V exm161179 1 235969353 [G/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_S1028C,Missense_S1028C exm161190 1 235969473 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_R988Q,Missense_R988Q exm161196 1 235969566 [A/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_M957T,Missense_M957T exm161205 1 235969711 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_V909I,Missense_V909I exm161214 1 235969993 [A/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_H815Y,Missense_H815Y exm161223 1 235971968 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_N717S,Missense_N717S exm161236 1 235972352 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_K589R,Missense_K589R exm161245 1 235972432 [G/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_Q562H,Missense_Q562H exm2232811 1 235972454 [T/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_H555P,Missense_H555P exm161254 1 235972553 [A/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_S522L,Missense_S522L exm161260 1 235972734 [A/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_P462S,Missense_P462S exm161267 1 235973121 [A/G] NM_000081,NM_001301365 LYST,LYST EXON Missense_H333Y,Missense_H333Y exm161269 1 235973169 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_E317K,Missense_E317K exm161276 1 235973426 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_Q231R,Missense_Q231R exm161282 1 235973521 [G/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_D199E,Missense_D199E exm161284 1 235973544 [A/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_L192V,Missense_L192V variant.10861 1 235973685 [A/G] NM_000081,NM_001301365 LYST,LYST EXON Nonsense_R145X,Nonsense_R145X exm161297 1 235973750 [T/C] NM_000081,NM_001301365 LYST,LYST EXON Missense_H123R,Missense_H123R rs2474929 1 235988566 [T/C] NM_000081,NM_001301365 LYST,LYST Silent,Silent exm161310 1 235993575 [T/C] NM_000081,NM_001301365,NR_102436 LYST,LYST,LYST EXON Missense_H48R,Missense_H48R,Silent exm161312 1 235993606 [A/G] NM_000081,NM_001301365,NR_102436 LYST,LYST,LYST EXON Missense_H38Y,Missense_H38Y,Silent rs3820555 1 235994867 [A/G] NM_000081,NM_001301365,NR_102436 LYST,LYST,LYST Silent,Silent,Silent rs2385029 1 236044714 [A/G] NM_001301365,NR_102436 LYST,LYST Silent,Silent rs4660123 1 236051207 [A/C] rs10754801 1 236054172 [A/G] rs6657655 1 236055833 [T/C] rs10803141 1 236066991 [A/G] rs4660126 1 236077778 [A/G] rs12566222 1 236085251 [T/C] rs10803154 1 236095773 [T/C] rs4660131 1 236105308 [T/C] rs10927083 1 236109373 [A/C] rs17616115 1 236118351 [A/G] exm161323 1 236141174 [T/C] NM_002508 NID1 EXON Missense_Q1246R exm161324 1 236141175 [A/G] NM_002508 NID1 EXON Nonsense_Q1246X exm161328 1 236141234 [A/G] NM_002508 NID1 EXON Missense_T1226I exm161331 1 236141259 [T/C] NM_002508 NID1 EXON Missense_G1218S exm161336 1 236142406 [T/C] NM_002508 NID1 EXON Missense_N1171D variant.10864 1 236143117 [T/C] NM_002508 NID1 Silent exm161338 1 236143144 [G/C] NM_002508 NID1 EXON Missense_L1163V exm2232814 1 236143150 [T/G] NM_002508 NID1 EXON Missense_K1161Q exm161341 1 236143189 [T/C] NM_002508 NID1 EXON Missense_E1148K exm161351 1 236143898 [T/C] NM_002508 NID1 EXON Missense_M1095V rs3820558 1 236144754 [A/C] NM_002508 NID1 Silent exm161352 1 236144919 [T/G] NM_002508 NID1 EXON Synonymous_S1073S exm2250900 1 236144919 [T/G] NM_002508 NID1 EXON Synonymous_S1073S rs3738525 1 236144951 [A/G] NM_002508 NID1 EXON Synonymous_L1063L exm161363 1 236148787 [T/G] NM_002508 NID1 EXON Missense_L983M rs4659618 1 236150459 [A/G] NM_002508 NID1 Silent rs1041111 1 236154012 [T/C] NM_002508 NID1 Silent exm161364 1 236154186 [T/C] NM_002508 NID1 EXON Synonymous_P976P exm161366 1 236154206 [T/C] NM_002508 NID1 EXON Missense_K970E exm161373 1 236154308 [T/C] NM_002508 NID1 EXON Missense_A936T exm161375 1 236154319 [A/G] NM_002508 NID1 EXON Missense_A932V exm161384 1 236157059 [A/G] NM_002508 NID1 EXON Missense_H881Y exm161389 1 236157113 [T/C] NM_002508 NID1 EXON Missense_T863A exm161395 1 236157150 [G/C] NM_002508 NID1 EXON Missense_Q850H rs16833075 1 236157277 [T/G] NM_002508 NID1 Silent rs9726880 1 236166380 [A/G] NM_002508 NID1 Silent exm161401 1 236175327 [A/C] NM_002508 NID1 EXON Missense_Q807H newrs142816335 1 236176710 [T/C] NM_002508 NID1 Silent exm161406 1 236176777 [T/G] NM_002508 NID1 EXON Missense_T780P exm161408 1 236176824 [T/G] NM_002508 NID1 EXON Missense_T764N exm161410 1 236176845 [T/C] NM_002508 NID1 EXON Missense_R757H newrs35714220 1 236176845 [T/C] NM_002508 NID1 EXON Missense_R757H rs3768080 1 236179869 [A/G] NM_002508 NID1 Silent exm-rs3768080 1 236179869 [A/G] NM_002508 NID1 Silent exm161414 1 236180498 [T/C] NM_002508 NID1 EXON Missense_R735H rs3738533 1 236187365 [T/C] NM_002508 NID1 Silent exm161421 1 236187372 [T/C] NM_002508 NID1 EXON Missense_Y709C exm161422 1 236187393 [T/C] NM_002508 NID1 EXON Missense_R702Q exm161428 1 236187492 [T/C] NM_002508 NID1 EXON Missense_Q669R exm161430 1 236189209 [A/C] NM_002508 NID1 EXON Missense_I657M rs10803235 1 236190333 [T/G] NM_002508 NID1 Silent rs3818238 1 236192782 [A/G] NM_002508 NID1 Silent exm161446 1 236192861 [T/C] NM_002508 NID1 EXON Missense_Y576C exm161448 1 236192895 [T/C] NM_002508 NID1 EXON Missense_V565M rs746997 1 236195181 [A/G] NM_002508 NID1 Silent exm161455 1 236195702 [A/G] NM_002508 NID1 EXON Synonymous_T512T exm161456 1 236195728 [T/C] NM_002508 NID1 EXON Missense_G504R exm161474 1 236201523 [A/G] NM_002508 NID1 EXON Missense_T389M exm161475 1 236201529 [T/C] NM_002508 NID1 EXON Missense_R387H rs4659620 1 236201609 [T/G] NM_002508 NID1 Silent rs1885019 1 236203911 [A/G] NM_002508 NID1 Silent indel.10869 1 236205215 [D/I] NM_002508 NID1 EXON exm2273756 1 236205413 [A/G] NM_002508 NID1 EXON Missense_T311M exm161490 1 236205440 [T/C] NM_002508 NID1 EXON Missense_R302H exm161492 1 236205449 [A/G] NM_002508 NID1 EXON Missense_A299V rs2385057 1 236207358 [A/G] NM_002508 NID1 Silent exm161501 1 236208773 [T/C] NM_002508 NID1 EXON Missense_V246I exm161509 1 236208871 [T/C] NM_002508 NID1 EXON Missense_N213S rs927730 1 236209883 [T/C] NM_002508 NID1 Silent exm161516 1 236212037 [T/C] NM_002508 NID1 EXON Missense_V160M exm2250901 1 236212038 [A/G] NM_002508 NID1 EXON Synonymous_S159S exm1769267 1 236212087 [A/G] NM_002508 NID1 EXON Missense_P143L exm161521 1 236212117 [T/C] NM_002508 NID1 EXON Missense_R133Q exm161528 1 236212189 [A/G] NM_002508 NID1 EXON Missense_A109V exm161531 1 236212232 [T/C] NM_002508 NID1 EXON Missense_G95R rs12409606 1 236220574 [T/C] NM_002508 NID1 Silent exm161534 1 236228164 [G/C] NM_002508 NID1 EXON Missense_D72E exm161536 1 236228234 [T/C] NM_002508 NID1 EXON Missense_G49E rs964114 1 236230900 [A/G] exm2268846 1 236249914 [T/C] rs2753440 1 236252880 [A/G] rs2734808 1 236264213 [A/G] rs6682352 1 236272711 [T/C] rs7542662 1 236274926 [T/C] rs4659625 1 236277789 [A/G] rs16833337 1 236284300 [T/G] rs10754470 1 236292483 [A/G] rs4659633 1 236294825 [A/C] rs7543562 1 236306825 [A/G] NM_003272 GPR137B Silent rs911271 1 236310024 [A/C] NM_003272 GPR137B Silent exm-rs7520258 1 236313127 [T/C] NM_003272 GPR137B Silent rs10924453 1 236327799 [A/G] NM_003272 GPR137B Silent rs7537965 1 236329513 [T/C] NM_003272 GPR137B Silent exm161563 1 236332046 [T/C] NM_003272 GPR137B EXON Missense_L152P rs4304570 1 236335649 [A/G] NM_003272 GPR137B Silent exm161567 1 236341794 [T/C] NM_003272 GPR137B EXON Missense_T182M exm161575 1 236341874 [T/C] NM_003272 GPR137B EXON Missense_L209F exm161581 1 236343282 [A/G] NM_003272 GPR137B EXON Missense_K264R newrs139529003 1 236347143 [A/G] NM_003272 GPR137B EXON Nonsense_W301X exm161587 1 236347143 [A/G] NM_003272 GPR137B EXON Nonsense_W301X indel.10873 1 236347159 [I/D] NM_003272 GPR137B EXON exm161590 1 236347180 [T/C] NM_003272 GPR137B EXON Nonsense_R314X exm161591 1 236347189 [A/C] NM_003272 GPR137B EXON Missense_N317H variant.10875 1 236347206 [T/G] NM_003272 GPR137B EXON Synonymous_L322L rs10802360 1 236348005 [A/G] NM_003272 GPR137B Silent rs10924691 1 236357391 [T/C] NM_003272 GPR137B Silent rs10924694 1 236358092 [A/G] NM_003272 GPR137B Silent indel.10876 1 236368473 [D/I] NM_003272 GPR137B EXON exm161593 1 236368480 [A/G] NM_003272 GPR137B EXON Missense_D341N exm161594 1 236368510 [A/G] NM_003272 GPR137B EXON Missense_D351N exm161596 1 236371376 [T/G] NM_003272 GPR137B EXON Missense_G373V rs1110423 1 236378709 [A/G] NM_019891 ERO1B EXON Silent rs1726631 1 236380611 [T/C] NM_019891 ERO1B EXON Silent exm161602 1 236381824 [T/C] NM_019891 ERO1B EXON Missense_S466G exm161603 1 236381825 [G/C] NM_019891 ERO1B EXON Missense_H465Q variant.10878 1 236384166 [A/G] NM_019891 ERO1B EXON Nonsense_Q437X exm161610 1 236384232 [A/G] NM_019891 ERO1B EXON Missense_F415L exm161617 1 236385276 [T/C] NM_019891 ERO1B EXON Missense_R386H exm161624 1 236389606 [T/C] NM_019891 ERO1B EXON Missense_T339A exm1769323 1 236389655 [A/C] NM_019891 ERO1B EXON Missense_E322D variant.10879 1 236389687 [A/G] NM_019891 ERO1B EXON Nonsense_R312X rs10924790 1 236389999 [T/C] NM_019891 ERO1B EXON Synonymous_S251S variant.10881 1 236399092 [A/G] NM_019891 ERO1B EXON Nonsense_R224X variant.10882 1 236399578 [T/C] NM_019891 ERO1B EXON Missense_K209R rs2695057 1 236404391 [T/C] NM_019891 ERO1B Silent exm161658 1 236406745 [T/C] NM_019891 ERO1B EXON Missense_R161Q rs1405628 1 236407465 [T/G] NM_019891 ERO1B Silent exm161663 1 236413230 [A/T] NM_019891 ERO1B EXON Missense_D129V exm161669 1 236416732 [C/G] NM_019891 ERO1B EXON Missense_P99R exm161671 1 236416750 [T/C] NM_019891 ERO1B EXON Missense_K93R exm161672 1 236416768 [T/C] NM_019891 ERO1B EXON Missense_D87G rs1749582 1 236426120 [A/G] NM_019891 ERO1B Silent exm161676 1 236433208 [T/G] NM_019891 ERO1B EXON Missense_K63N rs1749553 1 236441037 [A/G] NM_019891 ERO1B Silent rs557205 1 236451196 [A/C] rs17567019 1 236465416 [T/C] rs7554436 1 236474797 [T/C] rs9287214 1 236480062 [T/C] rs16833586 1 236494413 [A/G] rs12040004 1 236494471 [A/G] rs605998 1 236517124 [A/G] rs11577428 1 236520701 [A/G] rs10925109 1 236521008 [T/C] rs590470 1 236529878 [A/G] rs2463198 1 236533247 [A/G] rs2120959 1 236546386 [A/G] rs6695464 1 236548122 [T/C] exm161688 1 236557766 [C/G] NM_145861 EDARADD EXON Missense_Q8E exm161689 1 236557771 [A/G] NM_145861 EDARADD EXON Missense_M9I exm161691 1 236557804 [A/G] NM_145861 EDARADD EXON Synonymous_E20E exm161693 1 236558948 [G/C] NM_145861,NM_080738 EDARADD,EDARADD EXON Silent,Missense_P7A rs593981 1 236567767 [T/C] NM_145861,NM_080738 EDARADD,EDARADD Silent,Silent rs645507 1 236573260 [A/G] NM_145861,NM_080738 EDARADD,EDARADD Silent,Silent rs16833648 1 236576506 [A/G] NM_145861,NM_080738 EDARADD,EDARADD Silent,Silent rs665504 1 236585417 [A/G] NM_145861,NM_080738 EDARADD,EDARADD Silent,Silent rs635487 1 236590816 [T/G] NM_145861,NM_080738 EDARADD,EDARADD Silent,Silent rs636877 1 236601735 [A/G] NM_145861,NM_080738 EDARADD,EDARADD Silent,Silent rs17582358 1 236616134 [A/G] NM_145861,NM_080738 EDARADD,EDARADD Silent,Silent rs1253618 1 236618200 [T/G] NM_145861,NM_080738 EDARADD,EDARADD Silent,Silent rs7512191 1 236621524 [T/C] NM_145861,NM_080738 EDARADD,EDARADD Silent,Silent rs12045819 1 236623239 [T/C] NM_145861,NM_080738 EDARADD,EDARADD Silent,Silent rs11577180 1 236634875 [A/C] NM_145861,NM_080738 EDARADD,EDARADD Silent,Silent rs585273 1 236636159 [T/C] NM_145861,NM_080738 EDARADD,EDARADD Silent,Silent rs653740 1 236644617 [T/G] NM_145861,NM_080738 EDARADD,EDARADD Silent,Silent exm161709 1 236645609 [T/C] NM_145861,NM_080738 EDARADD,EDARADD EXON Missense_S103F,Missense_S93F exm161710 1 236645623 [T/C] NM_145861,NM_080738 EDARADD,EDARADD EXON Missense_R108W,Missense_R98W rs604070 1 236645670 [T/C] NM_145861,NM_080738 EDARADD,EDARADD EXON Synonymous_D123D,Synonymous_D113D rs12750497 1 236653341 [A/G] rs12753714 1 236656457 [T/C] rs10489788 1 236658679 [T/C] rs10925137 1 236659941 [A/G] rs9727054 1 236668845 [T/G] rs10754573 1 236677586 [A/C] rs2799426 1 236685587 [T/C] NM_201545 LGALS8 Silent rs16833777 1 236699354 [A/G] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 Silent,Silent,Silent,Silent exm161735 1 236700807 [T/A] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_F19Y,Missense_F19Y,Missense_F19Y,Missense_F19Y exm161739 1 236700836 [C/G] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_P29A,Missense_P29A,Missense_P29A,Missense_P29A exm161740 1 236700857 [T/C] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_R36C,Missense_R36C,Missense_R36C,Missense_R36C exm161745 1 236702210 [A/G] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_M56V,Missense_M56V,Missense_M56V,Missense_M56V exm1769386 1 236702219 [T/C] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Nonsense_R59X,Nonsense_R59X,Nonsense_R59X,Nonsense_R59X exm161754 1 236702360 [T/G] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_V106L,Missense_V106L,Missense_V106L,Missense_V106L indel.10886 1 236702379 [D/I] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON exm161766 1 236703922 [T/C] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_I135T,Missense_I135T,Missense_I135T,Missense_I135T variant.10887 1 236703983 [A/G] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Synonymous_S155S,Synonymous_S155S,Synonymous_S155S,Synonymous_S155S indel.10888 1 236704995 [D/I] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON exm161779 1 236706086 [T/C] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_L183P,Missense_L183P,Missense_L183P,Missense_L183P exm161780 1 236706234 [A/G] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_D190G,Silent,Missense_D190G,Silent exm161782 1 236706278 [T/G] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_D205Y,Silent,Missense_D205Y,Silent exm161785 1 236706300 [A/T] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Nonsense_L212X,Silent,Nonsense_L212X,Silent 1KG_1_236706328 1 236706328 [I/D] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON exm161795 1 236706899 [T/C] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_P239S,Missense_P197S,Missense_P239S,Missense_P197S variant.10890 1 236706905 [T/C] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Nonsense_R241X,Nonsense_R199X,Nonsense_R241X,Nonsense_R199X rs2799410 1 236707007 [T/C] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 Silent,Silent,Silent,Silent indel.10891 1 236708060 [D/I] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON indel.10892 1 236708182 [I/D] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON exm161808 1 236711344 [T/G] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Missense_K321N,Missense_K279N,Missense_K321N,Missense_K279N indel.10893 1 236711374 [D/I] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON rs2758997 1 236711810 [A/G] NM_201545,NM_201543,NM_006499,NM_201544 LGALS8,LGALS8,LGALS8,LGALS8 EXON Silent,Silent,Silent,Silent rs6989 1 236714064 [A/C] NM_201545,NM_201543,NM_006499,NM_201544,NM_018072 LGALS8,LGALS8,LGALS8,LGALS8,HEATR1 EXON Silent,Silent,Silent,Silent,Silent exm161831 1 236716888 [A/G] NM_018072 HEATR1 EXON Missense_S2077L exm1769433 1 236716900 [A/G] NM_018072 HEATR1 EXON Missense_T2073M exm161835 1 236716934 [A/G] NM_018072 HEATR1 EXON Missense_W2062R exm161842 1 236717926 [T/C] NM_018072 HEATR1 EXON Missense_E2017G exm161843 1 236717941 [T/C] NM_018072 HEATR1 EXON Missense_S2012N exm161847 1 236718052 [A/T] NM_018072 HEATR1 EXON Missense_D1975V exm161851 1 236718620 [T/C] NM_018072 HEATR1 EXON Missense_N1967D var_1_236718846 1 236718846 [A/G] NM_018072 HEATR1 Silent exm161856 1 236718925 [T/C] NM_018072 HEATR1 EXON Missense_N1894D exm1769442 1 236719184 [T/C] NM_018072 HEATR1 EXON Missense_K1857R exm161865 1 236719193 [A/G] NM_018072 HEATR1 EXON Missense_V1854A exm161877 1 236720535 [A/G] NM_018072 HEATR1 EXON Missense_P1772L exm1769451 1 236720628 [A/T] NM_018072 HEATR1 EXON Missense_L1741Q exm161890 1 236721600 [A/G] NM_018072 HEATR1 EXON Missense_A1714V exm161895 1 236721660 [T/C] NM_018072 HEATR1 EXON Missense_N1694S exm161896 1 236721679 [G/C] NM_018072 HEATR1 EXON Missense_P1688A exm161897 1 236721700 [A/C] NM_018072 HEATR1 EXON Missense_F1681V exm161900 1 236721745 [T/C] NM_018072 HEATR1 EXON Missense_N1666D exm161902 1 236721780 [T/C] NM_018072 HEATR1 EXON Missense_R1654H exm161904 1 236722318 [T/C] NM_018072 HEATR1 EXON Missense_N1630D exm2250903 1 236723080 [A/G] NM_018072 HEATR1 EXON Synonymous_N1568N exm161922 1 236723108 [T/C] NM_018072 HEATR1 EXON Missense_S1559N rs6661946 1 236723108 [T/C] NM_018072 HEATR1 EXON Missense_S1559N exm161928 1 236724529 [T/C] NM_018072 HEATR1 EXON Missense_E1548K exm161930 1 236724559 [T/C] NM_018072 HEATR1 EXON Missense_G1538S rs1077438 1 236724605 [T/G] NM_018072 HEATR1 Silent variant.10895 1 236729214 [T/C] NM_018072 HEATR1 Silent exm161945 1 236729956 [T/C] NM_018072 HEATR1 EXON Missense_Y1433C exm161947 1 236729965 [A/G] NM_018072 HEATR1 EXON Missense_A1430V exm161948 1 236729999 [C/G] NM_018072 HEATR1 EXON Missense_L1419V exm161958 1 236730157 [A/G] NM_018072 HEATR1 EXON Missense_I1366T exm161959 1 236730158 [T/C] NM_018072 HEATR1 EXON Missense_I1366V exm161963 1 236732375 [T/C] NM_018072 HEATR1 EXON Missense_N1333S exm161964 1 236732395 [A/C] NM_018072 HEATR1 EXON Missense_I1326M exm1769472 1 236732411 [T/C] NM_018072 HEATR1 EXON Missense_H1321R rs2794778 1 236732776 [A/G] NM_018072 HEATR1 Silent exm161969 1 236734763 [T/C] NM_018072 HEATR1 EXON Missense_D1279G exm161970 1 236734764 [T/C] NM_018072 HEATR1 EXON Missense_D1279N exm161971 1 236734770 [T/G] NM_018072 HEATR1 EXON Missense_I1277L exm161973 1 236734902 [T/G] NM_018072 HEATR1 EXON Missense_Q1264H exm161974 1 236734925 [T/C] NM_018072 HEATR1 EXON Missense_S1257G exm161976 1 236734939 [T/C] NM_018072 HEATR1 EXON Missense_K1252R exm161979 1 236735823 [T/C] NM_018072 HEATR1 EXON Missense_V1199I exm161991 1 236737983 [A/G] NM_018072 HEATR1 EXON Missense_I1102T exm161992 1 236737999 [T/C] NM_018072 HEATR1 EXON Missense_A1097T exm161999 1 236738150 [C/G] NM_018072 HEATR1 EXON Missense_Q1046H exm162000 1 236738169 [A/T] NM_018072 HEATR1 EXON Missense_Q1040L exm162007 1 236740099 [T/C] NM_018072 HEATR1 EXON Missense_D969G exm162011 1 236740135 [T/C] NM_018072 HEATR1 EXON Missense_D957G exm162013 1 236740169 [T/C] NM_018072 HEATR1 EXON Missense_S946G rs16833958 1 236742166 [A/G] NM_018072 HEATR1 Silent exm162019 1 236744626 [T/C] NM_018072 HEATR1 EXON Missense_S884N variant.10897 1 236746031 [T/C] NM_018072 HEATR1 Silent exm2277032 1 236746068 [A/G] NM_018072 HEATR1 EXON Missense_H844Y exm1769513 1 236746126 [C/G] NM_018072 HEATR1 EXON Missense_D824E exm162035 1 236746370 [T/C] NM_018072 HEATR1 EXON Missense_V790I exm162036 1 236746381 [A/G] NM_018072 HEATR1 EXON Missense_S786L exm162039 1 236746426 [T/C] NM_018072 HEATR1 EXON Missense_Y771C exm1769516 1 236748338 [A/G] NM_018072 HEATR1 EXON Missense_V743A exm162045 1 236748386 [A/G] NM_018072 HEATR1 EXON Missense_I727T exm162046 1 236748393 [A/G] NM_018072 HEATR1 EXON Missense_F725L exm162053 1 236748476 [T/C] NM_018072 HEATR1 EXON Missense_N697S exm162057 1 236749128 [A/C] NM_018072 HEATR1 EXON Missense_L681V exm162062 1 236749589 [T/C] NM_018072 HEATR1 EXON Missense_K627E exm1769522 1 236749615 [T/C] NM_018072 HEATR1 EXON Missense_E618G exm162064 1 236749627 [A/G] NM_018072 HEATR1 EXON Missense_T614M exm162065 1 236749649 [T/C] NM_018072 HEATR1 EXON Missense_M607V exm162069 1 236749730 [T/C] NM_018072 HEATR1 EXON Missense_A580T exm162073 1 236750709 [T/C] NM_018072 HEATR1 EXON Missense_G570R exm162080 1 236751262 [T/C] NM_018072 HEATR1 EXON Missense_I538V exm162088 1 236754182 [T/C] NM_018072 HEATR1 EXON Missense_M499V exm162090 1 236754203 [G/C] NM_018072 HEATR1 EXON Missense_A492P exm162094 1 236755340 [T/G] NM_018072 HEATR1 EXON Missense_L459I exm162095 1 236755346 [T/G] NM_018072 HEATR1 EXON Missense_Q457K exm162109 1 236758851 [T/C] NM_018072 HEATR1 EXON Missense_H360R exm162110 1 236758882 [T/C] NM_018072 HEATR1 EXON Missense_M350V rs2794751 1 236758887 [T/C] NM_018072 HEATR1 EXON Missense_H348R exm162111 1 236758887 [T/C] NM_018072 HEATR1 EXON Missense_H348R exm162112 1 236758906 [T/C] NM_018072 HEATR1 EXON Missense_D342N exm162114 1 236758923 [T/C] NM_018072 HEATR1 EXON Missense_G336E exm1769549 1 236758926 [T/C] NM_018072 HEATR1 EXON Missense_H335R exm162120 1 236759302 [T/C] NM_018072 HEATR1 EXON Missense_M263V exm162130 1 236761231 [T/C] NM_018072 HEATR1 EXON Missense_K184E rs2298099 1 236761778 [A/G] NM_018072 HEATR1 Silent exm162136 1 236762890 [T/C] NM_018072 HEATR1 EXON Missense_I132V rs1773440 1 236793400 [T/C] rs4659695 1 236796979 [T/C] rs10495382 1 236800698 [A/G] rs663398 1 236800747 [A/G] rs490076 1 236802303 [A/G] rs10925178 1 236803753 [A/G] rs645206 1 236807017 [T/C] rs682757 1 236818787 [A/G] rs475488 1 236821847 [A/G] rs1036001 1 236837395 [T/C] rs819666 1 236848751 [T/C] exm162158 1 236849999 [A/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_Q9R,Missense_Q9R,Silent rs3851907 1 236855132 [T/C] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 Silent,Silent,Silent rs3905125 1 236864459 [T/C] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 Silent,Silent,Silent rs707210 1 236872018 [T/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 Silent,Silent,Silent rs1366990 1 236881703 [T/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 Silent,Silent,Silent exm162167 1 236882283 [A/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_G111R,Missense_G111R,Silent exm162173 1 236889292 [A/C] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_N170H,Missense_N170H,Silent rs819639 1 236893599 [A/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 Silent,Silent,Silent exm162179 1 236894607 [A/T] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_D230E,Missense_D230E,Silent rs4659708 1 236899343 [A/C] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 Silent,Silent,Silent exm162190 1 236902618 [A/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_R298H,Missense_R298H,Missense_R90H exm162192 1 236902624 [T/C] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_T300M,Missense_T300M,Missense_T92M exm162194 1 236902651 [T/C] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_P309L,Missense_P309L,Missense_P101L rs7544174 1 236902955 [T/C] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 Silent,Silent,Silent exm162210 1 236907962 [T/C] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_S431L,Missense_S431L,Missense_S223L exm162214 1 236907968 [T/C] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_S433L,Missense_S433L,Missense_S225L exm2250904 1 236908053 [T/C] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Synonymous_I461I,Synonymous_I461I,Synonymous_I253I exm162229 1 236911044 [T/C] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_T495M,Missense_T495M,Missense_T287M exm162231 1 236912427 [A/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_M507V,Missense_M507V,Missense_M299V exm2232829 1 236914861 [A/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_E583G,Missense_E583G,Missense_E375G exm162244 1 236914923 [A/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_M604V,Missense_M604V,Missense_M396V exm162248 1 236917271 [A/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_D622N,Missense_D622N,Missense_D414N exm162252 1 236917337 [A/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_A644T,Missense_A644T,Missense_A436T exm162266 1 236918473 [A/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_N710S,Missense_N710S,Missense_N502S exm162269 1 236918491 [T/C] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_T716M,Missense_T716M,Missense_T508M exm162271 1 236920792 [A/C] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_R721S,Missense_R721S,Missense_R513S variant.10901 1 236923045 [T/C] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_H775Y,Missense_H775Y,Missense_H567Y var_1_236923094 1 236923094 [A/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 Silent,Silent,Silent exm162282 1 236924370 [T/C] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_T808I,Missense_T808I,Missense_T600I exm162295 1 236925836 [A/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_A868T,Missense_A868T,Missense_A660T exm162297 1 236925844 [A/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Synonymous_S870S,Synonymous_S870S,Synonymous_S662S exm2250905 1 236925844 [A/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Synonymous_S870S,Synonymous_S870S,Synonymous_S662S exm162304 1 236925893 [A/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_A887T,Missense_A887T,Missense_A679T exm162305 1 236925911 [A/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Missense_D893N,Missense_D893N,Missense_D685N exm2265092 1 236926667 [A/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Silent,Silent,Silent rs7522310 1 236926667 [A/G] NM_001103,NM_001278343,NM_001278344 ACTN2,ACTN2,ACTN2 EXON Silent,Silent,Silent rs7514673 1 236928589 [T/C] rs4659470 1 236935938 [A/C] rs6687802 1 236938367 [A/G] rs6658562 1 236949304 [A/G] exm162313 1 236959016 [A/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Silent,Missense_L5I,Missense_L5I exm162336 1 236973878 [T/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Silent,Missense_P162L,Missense_P162L variant.10905 1 236978922 [T/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Silent,Nonsense_Q210X,Nonsense_Q210X exm162348 1 236979764 [A/G] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Silent,Missense_V229I,Missense_V229I exm162351 1 236979821 [A/G] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Silent,Missense_V248M,Missense_V248M exm162358 1 236990141 [A/G] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Silent,Missense_D314N,Missense_D314N exm162360 1 236992526 [A/G] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Silent,Missense_V345I,Missense_V345I exm162363 1 236992532 [T/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Silent,Missense_P347S,Missense_P347S exm162368 1 236995279 [A/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Silent,Missense_F363L,Missense_F363L exm162372 1 236995331 [A/G] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Silent,Missense_A381T,Missense_A381T rs883396 1 236996390 [A/G] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR Silent,Silent,Silent variant.10907 1 236998968 [A/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_S30Y,Missense_S437Y,Missense_S437Y indel.10908 1 237001827 [I/D] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON exm162387 1 237001869 [A/G] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_M88I,Missense_M495I,Missense_M495I variant.10909 1 237001901 [T/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR Silent,Silent,Silent exm1769714 1 237013670 [A/T] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_R107S,Missense_R514S,Missense_R514S rs2275568 1 237015628 [T/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR Silent,Silent,Silent exm162395 1 237016297 [A/G] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_D214G,Missense_D621G,Missense_D621G indel.10910 1 237016351 [I/D] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON indel.10911 1 237016375 [I/D] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON exm162398 1 237023161 [T/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_I254T,Missense_I661T,Missense_I661T newrs141614780 1 237023163 [T/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Nonsense_Q255X,Nonsense_Q662X,Nonsense_Q662X exm162402 1 237023193 [A/G] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_E265K,Missense_E672K,Missense_E672K exm162412 1 237025584 [T/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_P342S,Missense_P698S,Missense_P749S exm162418 1 237026770 [T/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_T367I,Missense_T723I,Missense_T774I indel.10914 1 237026846 [I/D] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON newrs138695265 1 237026853 [T/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Nonsense_R395X,Nonsense_R751X,Nonsense_R802X newrs147387989 1 237037078 [T/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_I397T,Missense_I753T,Missense_I804T rs10925257 1 237046160 [A/G] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR Silent,Silent,Silent exm162441 1 237048500 [A/G] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_D512G,Missense_D868G,Missense_D919G rs1805087 1 237048500 [A/G] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_D512G,Missense_D868G,Missense_D919G exm162444 1 237049631 [C/G] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_G532R,Missense_G888R,Missense_G939R rs3768147 1 237050985 [T/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR Silent,Silent,Silent variant.10918 1 237052600 [T/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Nonsense_R584X,Nonsense_R940X,Nonsense_R991X exm162451 1 237054460 [T/A] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_D605V,Missense_D961V,Missense_D1012V exm162452 1 237054504 [T/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_R620W,Missense_R976W,Missense_R1027W rs12049580 1 237056909 [A/G] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR Silent,Silent,Silent exm162464 1 237057679 [T/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_T669M,Missense_T1025M,Missense_T1076M exm162467 1 237057789 [A/G] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_A706T,Missense_A1062T,Missense_A1113T exm162477 1 237058743 [A/G] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_R757H,Missense_R1113H,Missense_R1164H exm162483 1 237058835 [A/G] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_I788V,Missense_I1144V,Missense_I1195V exm162486 1 237060372 [A/G] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Missense_N815S,Missense_N1171S,Missense_N1222S rs2853522 1 237061056 [A/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Silent,Silent,Silent rs10925263 1 237063748 [T/C] NM_001291940,NM_001291939,NM_000254 MTR,MTR,MTR EXON Silent,Silent,Silent rs4351629 1 237077480 [T/G] rs6428977 1 237083719 [A/G] rs16834569 1 237089660 [T/C] rs946936 1 237093381 [A/C] rs1252108 1 237111188 [A/G] rs10802577 1 237126155 [T/C] rs1417303 1 237126385 [T/G] rs6684983 1 237137760 [A/G] rs1252135 1 237138582 [A/G] rs1819088 1 237140296 [A/G] rs12027684 1 237144171 [A/G] rs12133452 1 237146261 [T/C] rs11582059 1 237148460 [A/G] rs1729489 1 237149479 [A/G] rs1252139 1 237151125 [T/C] rs12047281 1 237161467 [T/C] rs12410379 1 237166773 [T/C] rs4659762 1 237167218 [A/G] rs12239401 1 237194523 [T/C] rs12022449 1 237196413 [A/G] rs12403151 1 237197508 [A/G] rs11583513 1 237199183 [T/C] rs4659766 1 237200616 [A/G] rs10925298 1 237212306 [T/G] NM_001035 RYR2 Silent rs16834780 1 237227726 [A/G] NM_001035 RYR2 Silent rs9428368 1 237227916 [A/C] NM_001035 RYR2 Silent rs6684412 1 237247063 [A/C] NM_001035 RYR2 Silent rs6428992 1 237257650 [A/G] NM_001035 RYR2 Silent exm-rs7554607 1 237266603 [A/G] NM_001035 RYR2 Silent exm2265093 1 237271632 [A/G] NM_001035 RYR2 Silent rs17612827 1 237272274 [T/C] NM_001035 RYR2 Silent rs12125175 1 237272800 [A/G] NM_001035 RYR2 Silent rs17669728 1 237272920 [T/C] NM_001035 RYR2 Silent rs2490390 1 237276068 [T/C] NM_001035 RYR2 Silent rs11810113 1 237278149 [T/C] NM_001035 RYR2 Silent rs2485564 1 237280629 [A/G] NM_001035 RYR2 Silent rs10737813 1 237296231 [A/G] NM_001035 RYR2 Silent rs2490373 1 237299708 [T/C] NM_001035 RYR2 Silent rs2490370 1 237310235 [A/C] NM_001035 RYR2 Silent rs1409052 1 237313722 [A/G] NM_001035 RYR2 Silent rs1361116 1 237322012 [T/G] NM_001035 RYR2 Silent rs884641 1 237333965 [A/G] NM_001035 RYR2 Silent rs2490356 1 237337651 [A/G] NM_001035 RYR2 Silent rs9730301 1 237344644 [A/G] NM_001035 RYR2 Silent rs6668069 1 237349657 [T/C] NM_001035 RYR2 Silent rs6683225 1 237349738 [T/C] NM_001035 RYR2 Silent rs12401834 1 237364582 [A/C] NM_001035 RYR2 Silent rs637520 1 237369284 [T/C] NM_001035 RYR2 Silent rs628414 1 237373237 [A/G] NM_001035 RYR2 Silent rs2152884 1 237378155 [A/G] NM_001035 RYR2 Silent rs6663087 1 237379105 [T/G] NM_001035 RYR2 Silent rs6661229 1 237382689 [T/C] NM_001035 RYR2 Silent rs6683160 1 237390732 [A/C] NM_001035 RYR2 Silent rs10495391 1 237393094 [A/G] NM_001035 RYR2 Silent rs11587851 1 237401055 [T/C] NM_001035 RYR2 Silent rs666787 1 237406445 [A/G] NM_001035 RYR2 Silent rs888438 1 237413292 [T/G] NM_001035 RYR2 Silent rs12133002 1 237416049 [A/G] NM_001035 RYR2 Silent rs918241 1 237420086 [A/C] NM_001035 RYR2 Silent rs10495394 1 237431505 [A/G] NM_001035 RYR2 Silent rs2275288 1 237433524 [T/C] NM_001035 RYR2 Silent rs2275287 1 237433625 [T/C] NM_001035 RYR2 Silent rs6429004 1 237444888 [A/G] NM_001035 RYR2 Silent rs7526759 1 237446556 [T/C] NM_001035 RYR2 Silent rs11802494 1 237460954 [T/C] NM_001035 RYR2 Silent rs10754597 1 237462985 [T/G] NM_001035 RYR2 Silent rs16835116 1 237463399 [T/C] NM_001035 RYR2 Silent rs10802600 1 237471081 [T/C] NM_001035 RYR2 Silent rs10802607 1 237516073 [T/C] NM_001035 RYR2 Silent rs4475735 1 237523573 [A/G] NM_001035 RYR2 Silent rs4638118 1 237525382 [A/G] NM_001035 RYR2 Silent rs10925391 1 237540615 [A/C] NM_001035 RYR2 Silent variant.10924 1 237540715 [A/G] NM_001035 RYR2 EXON Missense_V186M exm162526 1 237550653 [A/G] NM_001035 RYR2 EXON Missense_I217V rs10925399 1 237552147 [T/C] NM_001035 RYR2 Silent rs10737816 1 237572916 [A/C] NM_001035 RYR2 Silent rs6673700 1 237575133 [A/G] NM_001035 RYR2 Silent rs12691536 1 237576019 [T/C] NM_001035 RYR2 Silent rs17631862 1 237578208 [T/C] NM_001035 RYR2 Silent rs11577402 1 237578970 [A/G] NM_001035 RYR2 Silent rs6673182 1 237580606 [T/G] NM_001035 RYR2 Silent rs4593814 1 237584925 [A/C] NM_001035 RYR2 Silent exm2232839 1 237586469 [T/C] NM_001035 RYR2 EXON Missense_M309T exm162537 1 237586525 [A/G] NM_001035 RYR2 EXON Missense_A328T rs10925415 1 237599305 [A/G] NM_001035 RYR2 Silent rs7552202 1 237600863 [T/C] NM_001035 RYR2 Silent rs10925416 1 237602666 [T/C] NM_001035 RYR2 Silent exm162543 1 237604748 [A/G] NM_001035 RYR2 EXON Missense_V379M exm162547 1 237604779 [A/G] NM_001035 RYR2 EXON Missense_R389H rs9428377 1 237610385 [A/G] NM_001035 RYR2 Silent exm1769846 1 237619934 [A/G] NM_001035 RYR2 EXON Missense_R504H exm162564 1 237619942 [A/G] NM_001035 RYR2 EXON Missense_V507I exm162568 1 237620034 [A/G] NM_001035 RYR2 EXON Synonymous_L537L rs2045955 1 237620049 [T/C] NM_001035 RYR2 Silent rs1382585 1 237626405 [A/G] NM_001035 RYR2 Silent rs2618679 1 237627498 [A/G] NM_001035 RYR2 Silent variant.10926 1 237632489 [T/C] NM_001035 RYR2 Silent rs10754604 1 237636179 [A/G] NM_001035 RYR2 Silent rs12058655 1 237651054 [A/G] NM_001035 RYR2 Silent rs2997975 1 237653255 [A/G] NM_001035 RYR2 Silent rs2127155 1 237654831 [T/G] NM_001035 RYR2 Silent exm162575 1 237656365 [T/C] NM_001035 RYR2 EXON Missense_R647C rs2010045 1 237658484 [T/C] NM_001035 RYR2 Silent variant.10927 1 237660057 [A/G] NM_001035 RYR2 Silent rs2618698 1 237663757 [A/G] NM_001035 RYR2 Silent exm162590 1 237664196 [A/G] NM_001035 RYR2 EXON Missense_G797R exm2232841 1 237670026 [A/C] NM_001035 RYR2 EXON Missense_H877P rs2618702 1 237670140 [A/G] NM_001035 RYR2 Silent rs3766841 1 237673871 [A/G] NM_001035 RYR2 Silent exm162602 1 237675024 [A/G] NM_001035 RYR2 EXON Missense_V919M rs2618687 1 237677346 [T/C] NM_001035 RYR2 Silent rs9633357 1 237682895 [A/G] NM_001035 RYR2 Silent rs2618693 1 237685255 [A/G] NM_001035 RYR2 Silent rs2779360 1 237690923 [T/C] NM_001035 RYR2 Silent rs2805446 1 237693190 [T/C] NM_001035 RYR2 Silent rs10925451 1 237702709 [A/G] NM_001035 RYR2 Silent rs2257096 1 237703401 [A/G] NM_001035 RYR2 Silent rs2618662 1 237711457 [A/G] NM_001035 RYR2 Silent newrs149514924 1 237711862 [A/G] NM_001035 RYR2 EXON Missense_R1013Q exm162613 1 237711862 [A/G] NM_001035 RYR2 EXON Missense_R1013Q exm162615 1 237713929 [A/G] NM_001035 RYR2 EXON Missense_R1051H rs2805464 1 237718716 [A/G] NM_001035 RYR2 Silent rs2805468 1 237721111 [A/G] NM_001035 RYR2 Silent rs2127148 1 237723828 [T/G] NM_001035 RYR2 Silent rs722582 1 237725934 [A/G] NM_001035 RYR2 Silent rs1031862 1 237727970 [T/C] NM_001035 RYR2 Silent exm162618 1 237729882 [T/C] NM_001035 RYR2 EXON Missense_V1077A exm162621 1 237729972 [T/C] NM_001035 RYR2 EXON Missense_T1107M exm162623 1 237730008 [A/G] NM_001035 RYR2 EXON Missense_R1119H exm162624 1 237730013 [C/G] NM_001035 RYR2 EXON Missense_G1121R exm162625 1 237730032 [A/G] NM_001035 RYR2 EXON Missense_E1127G newrs72549415 1 237730059 [T/C] NM_001035 RYR2 EXON Missense_A1136V exm162627 1 237730059 [T/C] NM_001035 RYR2 EXON Missense_A1136V rs2779401 1 237730169 [T/C] NM_001035 RYR2 Silent rs2779408 1 237735683 [T/C] NM_001035 RYR2 Silent rs2618704 1 237741484 [A/G] NM_001035 RYR2 Silent rs1842085 1 237744972 [A/G] NM_001035 RYR2 Silent exm162637 1 237753215 [A/G] NM_001035 RYR2 EXON Missense_V1241I exm162641 1 237754015 [A/G] NM_001035 RYR2 EXON Missense_S1295G exm162657 1 237755074 [A/C] NM_001035 RYR2 EXON Missense_T1399K exm162659 1 237755076 [A/G] NM_001035 RYR2 EXON Missense_S1400G rs1817410 1 237760083 [A/G] NM_001035 RYR2 Silent rs2127159 1 237762445 [T/C] NM_001035 RYR2 Silent rs3820572 1 237765657 [A/G] NM_001035 RYR2 Silent exm162677 1 237774070 [A/G] NM_001035 RYR2 EXON Missense_M1564I exm162680 1 237774125 [T/C] NM_001035 RYR2 EXON Missense_P1583S exm162695 1 237777689 [C/G] NM_001035 RYR2 EXON Missense_S1754T exm162713 1 237778082 [A/G] NM_001035 RYR2 EXON Missense_G1885E exm162714 1 237778084 [A/G] NM_001035 RYR2 EXON Missense_G1886S exm162717 1 237780626 [A/G] NM_001035 RYR2 EXON Missense_R1919Q rs489088 1 237784313 [T/C] NM_001035 RYR2 Silent rs578741 1 237785217 [A/G] NM_001035 RYR2 Silent rs6683048 1 237788786 [A/G] NM_001035 RYR2 Silent rs939698 1 237790680 [A/G] NM_001035 RYR2 Silent rs1967579 1 237797082 [T/G] NM_001035 RYR2 Silent variant.10932 1 237802462 [A/G] NM_001035 RYR2 EXON Missense_R2359Q rs11583646 1 237806819 [A/G] NM_001035 RYR2 Silent rs3766878 1 237810013 [A/G] NM_001035 RYR2 Silent variant.10933 1 237811742 [A/C] NM_001035 RYR2 Silent exm162774 1 237811896 [A/G] NM_001035 RYR2 EXON Missense_A2499T rs3766879 1 237812498 [A/G] NM_001035 RYR2 Silent rs490057 1 237812676 [A/C] NM_001035 RYR2 Silent exm162778 1 237813283 [A/G] NM_001035 RYR2 EXON Missense_H2540R exm162779 1 237813353 [A/G] NM_001035 RYR2 EXON Synonymous_K2563K exm2250909 1 237813353 [A/G] NM_001035 RYR2 EXON Synonymous_K2563K rs684923 1 237814783 [T/C] NM_001035 RYR2 EXON Synonymous_H2602H rs622625 1 237815546 [T/C] NM_001035 RYR2 Silent exm162787 1 237819215 [A/G] NM_001035 RYR2 EXON Missense_S2687N exm162788 1 237821259 [T/G] NM_001035 RYR2 EXON Missense_E2715D exm162789 1 237821276 [T/C] NM_001035 RYR2 EXON Missense_I2721T variant.10936 1 237838147 [A/G] NM_001035 RYR2 Silent exm162802 1 237841390 [A/G] NM_001035 RYR2 EXON Missense_Q2958R rs1533772 1 237844948 [A/G] NM_001035 RYR2 Silent rs1464459 1 237845083 [A/C] NM_001035 RYR2 Silent rs12028693 1 237859614 [A/G] NM_001035 RYR2 Silent rs4427395 1 237862587 [A/G] NM_001035 RYR2 Silent exm162821 1 237868623 [A/G] NM_001035 RYR2 EXON Missense_K3187R exm162831 1 237870447 [A/G] NM_001035 RYR2 EXON Missense_R3260Q rs2392695 1 237871793 [A/G] NM_001035 RYR2 Silent exm162837 1 237872179 [A/G] NM_001035 RYR2 EXON Missense_N3308S exm2250911 1 237872219 [A/G] NM_001035 RYR2 EXON Synonymous_P3321P exm162841 1 237872286 [A/G] NM_001035 RYR2 EXON Missense_A3344T variant.10938 1 237872867 [T/C] NM_001035 RYR2 EXON Synonymous_H3410H exm162855 1 237880555 [A/G] NM_001035 RYR2 EXON Missense_M3461V exm162859 1 237881795 [A/C] NM_001035 RYR2 EXON Missense_R3510S indel.10940 1 237895388 [I/D] NM_001035 RYR2 EXON rs2685297 1 237897844 [T/C] NM_001035 RYR2 Silent rs10925501 1 237901607 [T/C] NM_001035 RYR2 Silent rs16835705 1 237908911 [A/G] NM_001035 RYR2 Silent exm-rs2819770 1 237911004 [T/C] NM_001035 RYR2 Silent exm2250912 1 237921596 [T/C] NM_001035 RYR2 Silent rs1464461 1 237921596 [T/C] NM_001035 RYR2 Silent rs10802632 1 237928221 [A/C] NM_001035 RYR2 Silent rs2250079 1 237931094 [T/C] NM_001035 RYR2 Silent variant.10942 1 237947781 [T/C] NM_001035 RYR2 EXON Nonsense_R4257X exm162914 1 237947854 [T/C] NM_001035 RYR2 EXON Missense_T4281M exm162916 1 237947931 [T/C] NM_001035 RYR2 EXON Missense_R4307C newrs189345192 1 237955507 [A/G] NM_001035 RYR2 EXON Missense_A4556T rs790899 1 237957678 [A/G] NM_001035 RYR2 Silent rs2790347 1 237965043 [A/G] NM_001035 RYR2 Silent rs2794828 1 237967937 [T/C] NM_001035 RYR2 Silent variant.10944 1 237969584 [A/G] NM_001035 RYR2 Silent rs813173 1 237974720 [T/C] NM_001035 RYR2 Silent rs16835868 1 237977057 [T/C] NM_001035 RYR2 Silent rs2794834 1 237979535 [T/C] NM_001035 RYR2 Silent rs1891246 1 237981846 [T/G] NM_001035 RYR2 Silent exm-rs2819742 1 237990122 [A/G] NM_001035 RYR2 Silent rs2819742 1 237990122 [A/G] NM_001035 RYR2 Silent rs2819743 1 237990337 [T/G] NM_001035 RYR2 Silent rs6695129 1 237993416 [A/G] NM_001035 RYR2 Silent rs16835894 1 237996594 [T/C] NM_001035 RYR2 EXON Silent rs6700222 1 238003342 [A/G] rs6703045 1 238003774 [A/G] rs12085662 1 238005708 [A/C] rs1891249 1 238010537 [T/C] rs16835926 1 238013174 [A/G] rs2819750 1 238015491 [A/G] rs16832094 1 238023418 [T/C] rs2794852 1 238034983 [T/G] NR_027247 LOC100130331 Silent rs946581 1 238043980 [T/C] NR_027247 LOC100130331 Silent exm162965 1 238045834 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_S504L rs2275694 1 238045995 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 Silent,Silent variant.10947 1 238046042 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_R499C exm162969 1 238046056 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_P494L exm162975 1 238046129 [T/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_N470H exm162976 1 238048069 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Nonsense_R464X exm162978 1 238048101 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_P453L exm162980 1 238048466 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_P437L exm162989 1 238048569 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Nonsense_Q403X variant.10952 1 238048690 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 Silent,Silent exm162999 1 238048809 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_V348M exm163005 1 238049083 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_L315F indel.10957 1 238049107 [D/I] NR_027247,NM_021186 LOC100130331,ZP4 EXON exm163009 1 238049140 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_I296V exm163010 1 238049143 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_P295S exm163012 1 238049149 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_S293P exm163015 1 238050081 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_S277G exm163020 1 238050120 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_D264N exm163021 1 238050122 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_R263K rs520720 1 238050136 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Synonymous_E258E exm163023 1 238050155 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_R252Q exm163026 1 238050690 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_C242Y indel.10959 1 238050715 [I/D] NR_027247,NM_021186 LOC100130331,ZP4 EXON exm1770065 1 238050750 [T/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_A222E exm163034 1 238050801 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_S205L exm163035 1 238050813 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_R201Q exm163036 1 238050843 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_R191Q variant.10960 1 238051653 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 Silent,Silent exm163040 1 238051766 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_R149W exm1770073 1 238051793 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_T140A exm2232852 1 238051808 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Nonsense_R135X exm163043 1 238053179 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_M130V exm163045 1 238053226 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_A114V exm163046 1 238053227 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_A114T exm1770077 1 238053235 [C/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_G111A exm163048 1 238053368 [T/C] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_Y95C exm163058 1 238053787 [A/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_T50M indel.10961 1 238053807 [I/D] NR_027247,NM_021186 LOC100130331,ZP4 EXON exm163060 1 238053817 [T/G] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_Q40P 1KG_1_238053825 1 238053825 [I/D] NR_027247,NM_021186 LOC100130331,ZP4 EXON exm163064 1 238053873 [A/T] NR_027247,NM_021186 LOC100130331,ZP4 EXON Silent,Missense_H21Q rs2636211 1 238059704 [T/C] NR_027247 LOC100130331 Silent rs12123002 1 238064730 [T/G] NR_027247 LOC100130331 Silent rs16836012 1 238067180 [A/G] NR_027247 LOC100130331 Silent rs1361357 1 238071778 [A/G] NR_027247 LOC100130331 Silent rs2790342 1 238091760 [A/G] rs547984 1 238096886 [A/C] rs2499604 1 238103501 [T/C] exm-rs2499604 1 238103501 [T/C] rs2200958 1 238126784 [A/G] rs2499566 1 238154347 [A/C] rs2487103 1 238159999 [T/C] rs1017981 1 238161865 [T/C] rs1340455 1 238211471 [A/G] rs6684566 1 238223495 [T/C] rs16836214 1 238226188 [T/G] rs2487091 1 238255771 [T/G] rs1796942 1 238270039 [A/G] exm2265094 1 238270039 [A/G] rs7525052 1 238271681 [T/G] rs7525053 1 238271688 [T/C] rs16836366 1 238281405 [T/C] rs7555423 1 238292209 [T/C] rs17523604 1 238297568 [T/C] rs12070012 1 238298024 [T/C] rs2066073 1 238303419 [A/G] rs7547681 1 238311680 [A/G] rs6668206 1 238326067 [T/G] rs1933979 1 238334315 [T/C] rs1572703 1 238339110 [A/G] rs6683290 1 238340968 [T/G] rs518552 1 238366533 [T/G] rs10925587 1 238376635 [A/G] rs6697891 1 238383296 [A/G] rs17591250 1 238386465 [T/C] rs10737820 1 238386642 [T/G] rs4659846 1 238403285 [A/G] rs6684578 1 238416905 [T/G] rs1481135 1 238419413 [T/C] rs1481151 1 238420323 [T/C] rs12049335 1 238429670 [A/G] rs6672666 1 238432884 [T/C] rs259614 1 238432940 [T/G] rs7536535 1 238441600 [T/C] rs259633 1 238441781 [T/C] rs12094201 1 238442713 [A/G] rs259645 1 238451820 [A/G] rs259649 1 238453671 [A/G] rs259654 1 238459434 [A/G] rs259576 1 238471995 [A/G] rs16836698 1 238474457 [A/C] rs370522 1 238477828 [A/G] rs1335975 1 238485541 [T/C] rs17528326 1 238494665 [T/C] rs9428720 1 238502766 [A/G] rs7530131 1 238504813 [A/G] rs12403783 1 238518116 [A/C] rs10925623 1 238520256 [T/C] rs1414537 1 238528098 [T/G] rs7547699 1 238529991 [T/C] rs7540190 1 238534722 [A/G] rs1021358 1 238544006 [A/G] rs6678429 1 238549714 [T/C] rs10754634 1 238558150 [T/G] rs923543 1 238559857 [A/G] rs10925637 1 238560794 [A/C] rs1021356 1 238573691 [A/G] rs10925642 1 238574360 [T/C] rs6665978 1 238575867 [T/C] rs10925644 1 238576412 [T/G] rs12026222 1 238582765 [T/G] rs4288585 1 238595161 [A/G] rs10157478 1 238622443 [T/C] rs7550966 1 238626927 [T/C] rs10925657 1 238631540 [T/C] rs6667689 1 238632415 [T/C] rs7532779 1 238636362 [A/G] rs12736761 1 238645291 [A/G] NR_015407 LINC01139 Silent rs12035663 1 238650133 [T/C] rs2392862 1 238655389 [T/G] rs6692597 1 238669665 [A/C] rs6429079 1 238672294 [A/G] rs12722764 1 238672931 [T/C] rs10495412 1 238683538 [A/C] rs11810140 1 238690302 [T/C] rs535043 1 238696036 [A/G] rs523691 1 238698680 [T/C] rs574280 1 238712017 [A/G] exm2268849 1 238716872 [T/G] rs789375 1 238719031 [A/G] rs6429087 1 238720444 [A/G] rs10754644 1 238724741 [A/G] rs10925689 1 238727180 [T/C] rs2078306 1 238729070 [A/G] rs7512016 1 238729563 [T/C] rs2653910 1 238738542 [A/G] rs624912 1 238741253 [T/C] rs683070 1 238751635 [A/C] rs585622 1 238758325 [T/C] rs526130 1 238759205 [A/G] rs12085878 1 238762337 [A/C] rs7517092 1 238771226 [T/C] rs10802709 1 238772150 [A/G] rs590734 1 238774832 [A/C] rs649812 1 238778872 [A/G] rs1502872 1 238783484 [A/G] rs6672862 1 238783811 [T/C] rs10754645 1 238786017 [A/G] rs10925716 1 238795509 [T/G] rs10925719 1 238811326 [T/C] rs6678175 1 238817430 [A/G] rs12726612 1 238819523 [A/C] rs7546888 1 238827206 [A/G] rs2174076 1 238837866 [A/G] rs2653914 1 238845573 [A/G] rs2841377 1 238849083 [A/G] rs6698518 1 238853437 [A/G] rs10802716 1 238855007 [A/C] rs2841393 1 238855427 [A/C] rs2202215 1 238861548 [T/C] rs12735197 1 238875754 [T/C] rs10925740 1 238886760 [T/C] rs17552002 1 238890112 [T/C] rs10925747 1 238899903 [T/G] rs2091078 1 238908229 [T/C] rs2841407 1 238915864 [T/C] rs10925754 1 238918722 [T/C] rs10925760 1 238930859 [A/G] rs7542176 1 238942337 [T/G] rs2841346 1 238946546 [T/C] rs3011577 1 238949005 [T/C] rs6693951 1 238952309 [A/G] rs2689187 1 238956984 [T/C] rs10925763 1 238962668 [T/G] rs2841375 1 238985075 [T/C] rs1983433 1 239001279 [A/G] rs7518759 1 239003021 [A/G] rs869035 1 239003522 [A/G] rs3001434 1 239005080 [T/C] rs6695351 1 239063172 [A/G] rs1915279 1 239075714 [A/G] rs6429111 1 239096030 [A/C] rs12023560 1 239109443 [A/C] rs12124650 1 239120367 [A/G] rs9428800 1 239141583 [T/C] rs1574985 1 239143179 [T/C] exm2260055 1 239144913 [A/G] rs9428810 1 239158189 [T/C] rs9428452 1 239166229 [A/G] rs9428818 1 239171877 [T/C] rs1915246 1 239176050 [T/C] rs1915247 1 239177621 [A/G] rs17622574 1 239184630 [T/C] rs10802740 1 239200850 [A/G] rs10925806 1 239213531 [T/G] rs1509701 1 239214483 [A/G] rs12092143 1 239233463 [A/G] rs6682504 1 239248743 [T/C] rs12084592 1 239249308 [T/C] rs6429124 1 239253108 [T/C] rs1509689 1 239254075 [T/C] rs16837758 1 239262486 [A/G] rs10495440 1 239275579 [T/C] rs1567400 1 239277139 [T/C] rs16837808 1 239289175 [A/G] rs10495437 1 239297423 [T/C] rs1848751 1 239305236 [T/C] rs6657123 1 239306468 [A/G] rs2136521 1 239316750 [T/C] rs4659904 1 239317135 [A/G] rs10925832 1 239321213 [T/C] rs9787223 1 239323855 [T/C] rs1980004 1 239327385 [A/G] exm2250922 1 239329782 [T/G] rs6668037 1 239332114 [T/C] rs6686907 1 239339558 [A/G] rs10737832 1 239341587 [A/G] rs6703086 1 239343728 [A/G] rs12038672 1 239344447 [A/G] rs2664057 1 239350728 [A/G] rs10802757 1 239359436 [T/C] rs2790661 1 239382027 [A/G] rs2820018 1 239401488 [A/C] rs16838096 1 239410745 [A/G] rs2790634 1 239423655 [A/G] exm-rs2820037 1 239436542 [T/A] rs2820040 1 239436876 [A/G] rs1416824 1 239439085 [T/C] rs4600035 1 239458049 [T/C] rs4568821 1 239466347 [A/G] rs10925867 1 239469734 [T/G] rs12041476 1 239472077 [T/C] rs10495432 1 239475761 [A/G] rs6661899 1 239491834 [A/C] rs9428828 1 239498915 [T/C] rs7551236 1 239510175 [A/G] rs7529749 1 239510383 [T/C] rs4644477 1 239517978 [A/C] rs6700381 1 239519108 [A/G] rs2354396 1 239536074 [T/C] rs4659544 1 239564682 [A/C] NM_001347716 CHRM3 Silent rs12123857 1 239570932 [A/G] NM_001347716 CHRM3 Silent rs11577797 1 239574661 [T/C] NM_001347716 CHRM3 Silent rs6678395 1 239575774 [T/C] NM_001347716 CHRM3 Silent rs12137225 1 239581298 [T/C] NM_001347716 CHRM3 Silent rs6671410 1 239597345 [T/G] NM_001347716 CHRM3 Silent rs6687984 1 239601676 [A/G] NM_001347716 CHRM3 Silent exm-rs6677208 1 239601969 [A/C] NM_001347716 CHRM3 Silent rs6677208 1 239601969 [A/C] NM_001347716 CHRM3 Silent rs17645304 1 239606858 [T/C] NM_001347716 CHRM3 Silent rs12086449 1 239612814 [T/C] NM_001347716 CHRM3 Silent rs10925889 1 239626755 [A/G] NM_001347716 CHRM3 Silent rs1782357 1 239677004 [A/G] NM_001347716 CHRM3 Silent rs1218671 1 239690844 [T/G] NM_001347716 CHRM3 Silent rs9287229 1 239699124 [T/C] NM_001347716 CHRM3 Silent rs16838472 1 239706218 [A/G] NM_001347716 CHRM3 Silent rs10925910 1 239706595 [A/C] NM_001347716 CHRM3 Silent rs12034521 1 239717680 [T/G] NM_001347716 CHRM3 Silent rs12406060 1 239720458 [T/C] NM_001347716 CHRM3 Silent rs7525710 1 239722208 [A/G] NM_001347716 CHRM3 Silent rs10802779 1 239760713 [T/C] NM_001347716 CHRM3 Silent rs6429140 1 239768800 [A/G] NM_001347716 CHRM3 Silent rs6688669 1 239775817 [A/G] NM_001347716 CHRM3 Silent rs2355230 1 239785165 [A/C] NM_001347716 CHRM3 Silent rs1867263 1 239807920 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs16832152 1 239811709 [T/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs6691263 1 239812103 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs10925941 1 239812538 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs12090480 1 239813953 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs12021900 1 239825054 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs10754677 1 239833100 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs12406493 1 239853105 [A/C] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs2278642 1 239867143 [T/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs1431718 1 239879553 [T/C] NM_001347716,NM_000740,NR_103776 CHRM3,CHRM3,CHRM3-AS2 Silent,Silent,Silent rs891700 1 239881926 [A/G] NM_001347716,NM_000740,NR_103776 CHRM3,CHRM3,CHRM3-AS2 Silent,Silent,Silent rs717227 1 239882599 [T/C] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs532718 1 239931618 [T/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs2841037 1 239934541 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs663927 1 239935351 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs626694 1 239946076 [T/C] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs665159 1 239962002 [T/C] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs2790336 1 239962686 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs12059546 1 239970097 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs558438 1 239971919 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs6690809 1 239974006 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs1578180 1 239982638 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs12072181 1 239985876 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs7536133 1 239988849 [T/C] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs685548 1 239994906 [T/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs497576 1 240025977 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs536477 1 240045908 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs10495447 1 240051340 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs16839034 1 240060328 [T/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent exm2264971 1 240065644 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs12036109 1 240065878 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent rs7520974 1 240067260 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 Silent,Silent exm1770297 1 240070760 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 EXON Synonymous_L3L,Synonymous_L3L exm163076 1 240070829 [T/G] NM_001347716,NM_000740 CHRM3,CHRM3 EXON Missense_D26E,Missense_D26E exm163083 1 240070944 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 EXON Missense_V65I,Missense_V65I exm163095 1 240071602 [T/C] NM_001347716,NM_000740 CHRM3,CHRM3 EXON Missense_T284M,Missense_T284M exm163105 1 240071937 [A/C] NM_001347716,NM_000740 CHRM3,CHRM3 EXON Missense_L396M,Missense_L396M exm163109 1 240071991 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 EXON Missense_V414M,Missense_V414M exm163112 1 240072040 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 EXON Missense_Q430R,Missense_Q430R exm163113 1 240072043 [T/C] NM_001347716,NM_000740 CHRM3,CHRM3 EXON Missense_L431P,Missense_L431P exm163114 1 240072054 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 EXON Missense_V435M,Missense_V435M exm163117 1 240072082 [A/C] NM_001347716,NM_000740 CHRM3,CHRM3 EXON Missense_N444T,Missense_N444T exm163120 1 240072103 [T/C] NM_001347716,NM_000740 CHRM3,CHRM3 EXON Missense_T451M,Missense_T451M exm163128 1 240072322 [T/C] NM_001347716,NM_000740 CHRM3,CHRM3 EXON Missense_T524I,Missense_T524I exm163132 1 240072504 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 EXON Missense_A585T,Missense_A585T rs10495449 1 240076608 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 EXON Silent,Silent rs4431831 1 240077023 [A/G] NM_001347716,NM_000740 CHRM3,CHRM3 EXON Silent,Silent rs10081951 1 240098415 [A/C] rs17606620 1 240102885 [T/C] rs12742834 1 240107121 [T/C] rs12563039 1 240108543 [A/G] rs10926024 1 240112465 [T/C] rs1538025 1 240113107 [T/G] rs10926030 1 240117721 [A/C] rs1984165 1 240118265 [T/C] rs6696393 1 240119053 [T/C] rs10926034 1 240121383 [T/G] rs7544436 1 240121828 [T/C] rs1903630 1 240122305 [A/C] rs4659556 1 240124315 [T/C] rs1124375 1 240127293 [T/C] rs12135917 1 240130042 [A/G] rs10926043 1 240132039 [A/G] rs12133285 1 240135971 [A/C] rs16839215 1 240136510 [A/G] rs1381526 1 240140563 [T/C] rs1415277 1 240146525 [T/C] rs4659940 1 240158598 [A/G] rs6675551 1 240164711 [A/G] rs7545703 1 240167654 [T/C] rs10926057 1 240172647 [T/G] NR_036695 RPS7P5 Silent rs10926064 1 240173998 [T/C] NR_036695 RPS7P5 Silent rs922306 1 240174291 [A/G] NR_036695 RPS7P5 Silent rs16839331 1 240175902 [A/G] NR_036695 RPS7P5 Silent rs10802826 1 240176633 [A/G] rs922305 1 240177781 [T/C] rs16839364 1 240188406 [A/C] rs10926089 1 240207152 [T/C] rs6693552 1 240213924 [A/C] rs12733694 1 240218134 [T/C] rs6429178 1 240225460 [T/G] rs10495457 1 240227948 [A/G] rs1418049 1 240253320 [T/C] exm2250930 1 240255940 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Synonymous_S177S,Synonymous_S177S,Synonymous_S177S exm163172 1 240255940 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Synonymous_S177S,Synonymous_S177S,Synonymous_S177S exm163198 1 240256668 [A/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Missense_K420T,Missense_K420T,Missense_K420T exm163202 1 240256767 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Missense_R453Q,Missense_R453Q,Missense_R453Q exm163204 1 240256781 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Missense_A458T,Missense_A458T,Missense_A458T rs2061632 1 240259800 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs12062492 1 240269323 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs12021945 1 240286855 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs6690640 1 240296107 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs10754692 1 240299514 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs10926138 1 240305244 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs16848431 1 240307048 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs1539200 1 240307892 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs17669357 1 240310294 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs1350225 1 240313215 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs1891231 1 240315515 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs10926149 1 240324530 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs12725745 1 240334350 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent variant.10964 1 240341241 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Nonsense_W601X,Nonsense_W601X,Nonsense_W601X rs3765588 1 240341268 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Synonymous_S610S,Synonymous_S610S,Synonymous_S610S variant.10965 1 240341399 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent exm163233 1 240351534 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Missense_P653L,Missense_P657L,Missense_P653L rs7544775 1 240353592 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs2124724 1 240354069 [T/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs1037666 1 240358485 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs6660298 1 240361422 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs10926165 1 240364187 [A/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent exm163247 1 240370312 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Silent,Missense_R738W,Missense_R734W exm163248 1 240370313 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Silent,Missense_R738Q,Missense_R734Q exm163259 1 240370583 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Silent,Missense_Q828R,Missense_Q824R exm163266 1 240370684 [A/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Silent,Missense_P862T,Missense_P858T exm163267 1 240370687 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Silent,Missense_P863S,Missense_P859S exm163268 1 240370702 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Silent,Missense_T868A,Missense_T864A exm163269 1 240370736 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Silent,Missense_M879T,Missense_M875T exm163455 1 240371821 [G/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Silent,Missense_L1241V,Missense_L1237V exm163459 1 240371906 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Silent,Missense_P1269L,Missense_P1265L exm163460 1 240371925 [T/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Silent,Missense_L1275F,Missense_L1271F rs10754695 1 240373569 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs10495461 1 240383334 [T/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs12037713 1 240394879 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs7531340 1 240396842 [T/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs6429194 1 240402395 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs1456655 1 240407163 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs2008864 1 240409592 [A/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs2124728 1 240418702 [T/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs10926185 1 240424857 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs10926188 1 240428265 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs10495462 1 240442817 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent exm-rs17672135 1 240445596 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs7519158 1 240447774 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent exm-rs10754697 1 240453628 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs6690616 1 240453639 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs10802855 1 240455395 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs6659900 1 240456751 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs6699880 1 240466440 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs7545302 1 240476158 [A/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs7519584 1 240483108 [T/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs6664970 1 240489585 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs6677726 1 240492414 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Synonymous_H725H,Synonymous_H1422H,Synonymous_H1418H rs6686353 1 240492543 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs3795677 1 240492734 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Missense_R775H,Missense_R1472H,Missense_R1468H exm163482 1 240492734 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Missense_R775H,Missense_R1472H,Missense_R1468H rs4495690 1 240496935 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent exm163486 1 240497221 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 EXON Missense_S847L,Missense_S1544L,Missense_S1540L rs10926222 1 240498229 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs12130718 1 240508458 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs6658239 1 240511965 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs9660912 1 240527029 [T/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs12723298 1 240527080 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs12064380 1 240531291 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs9725359 1 240533352 [A/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs10802866 1 240541011 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs1537850 1 240550077 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs9659428 1 240556931 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs9287233 1 240561727 [A/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs10926248 1 240575168 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs1572417 1 240586392 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs1414660 1 240586695 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs1414657 1 240589117 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs9729181 1 240600551 [T/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs9728609 1 240602059 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs2152556 1 240603314 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs12139890 1 240603534 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs17682283 1 240605623 [A/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs2883924 1 240608034 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs11576138 1 240609633 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs12064827 1 240612857 [T/C] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs11590081 1 240612986 [T/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs10802871 1 240613707 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs12403071 1 240620131 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs9287243 1 240633273 [A/G] NM_001348094,NM_001305424,NM_020066 FMN2,FMN2,FMN2 Silent,Silent,Silent rs879081 1 240639558 [T/C] rs9729366 1 240639611 [A/G] rs9725597 1 240641881 [A/G] rs9661693 1 240642118 [T/C] rs9442211 1 240643184 [T/C] rs11582667 1 240647955 [A/G] exm163518 1 240656550 [C/G] NM_022469 GREM2 EXON Missense_Q76E exm1770471 1 240656720 [A/G] NM_022469 GREM2 EXON Missense_A19V rs12137158 1 240660818 [A/G] NM_022469 GREM2 Silent rs951617 1 240667889 [T/C] NM_022469 GREM2 Silent rs2185285 1 240674472 [T/C] NM_022469 GREM2 Silent rs6702434 1 240678302 [A/G] NM_022469 GREM2 Silent rs9428482 1 240679626 [T/C] NM_022469 GREM2 Silent rs9428483 1 240680663 [A/G] NM_022469 GREM2 Silent exm2264972 1 240694114 [A/G] NM_022469 GREM2 Silent rs3828024 1 240694114 [A/G] NM_022469 GREM2 Silent rs12129547 1 240695255 [T/C] NM_022469 GREM2 Silent rs12027604 1 240699814 [A/G] NM_022469 GREM2 Silent rs10495471 1 240706107 [A/G] NM_022469 GREM2 Silent rs12069813 1 240712898 [A/G] NM_022469 GREM2 Silent rs10802887 1 240714030 [A/G] NM_022469 GREM2 Silent rs10926298 1 240718726 [A/C] NM_022469 GREM2 Silent rs10926303 1 240740757 [T/G] NM_022469 GREM2 Silent exm2260060 1 240742905 [T/G] NM_022469 GREM2 Silent rs1934346 1 240765476 [T/C] NM_022469 GREM2 Silent rs1934339 1 240776222 [A/G] rs12126125 1 240783716 [A/G] rs6429216 1 240814351 [A/G] rs7513948 1 240821761 [T/C] rs4659995 1 240835685 [A/G] rs11583286 1 240842076 [T/G] rs10926328 1 240845574 [T/C] rs4659996 1 240846124 [A/G] rs10802901 1 240852596 [T/C] rs6696418 1 240856523 [A/G] rs16840492 1 240866465 [A/G] exm2250934 1 240869087 [A/G] rs12753782 1 240887547 [A/G] rs2051032 1 240900515 [A/C] rs11802621 1 240901194 [T/C] rs2066380 1 240901508 [T/C] rs1418479 1 240932039 [A/G] rs6677808 1 240933445 [T/C] rs10926352 1 240937073 [T/C] rs1342445 1 240956849 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3932692 1 240962372 [T/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm163534 1 240964766 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 EXON Missense_A468T,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A468T exm163536 1 240964793 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 EXON Missense_D459N,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D459N rs1361748 1 240977252 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1342447 1 240977379 [A/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12744536 1 240977964 [T/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.10974 1 240979617 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 EXON Synonymous_Q261Q,Synonymous_Q235Q,Synonymous_Q235Q,Synonymous_Q235Q,Synonymous_Q261Q,Synonymous_Q208Q,Synonymous_Q261Q,Synonymous_Q235Q,Synonymous_Q261Q rs10495476 1 241006953 [A/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6429226 1 241015766 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs166370 1 241034693 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4660010 1 241039187 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12129550 1 241041334 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2796742 1 241042131 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3856237 1 241047490 [A/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2995381 1 241049361 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12751419 1 241058174 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs390488 1 241068852 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs191735 1 241078810 [A/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs422256 1 241087708 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent newrs138071681 1 241099902 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 EXON Nonsense_Q111X,Nonsense_Q85X,Nonsense_Q85X,Nonsense_Q85X,Nonsense_Q111X,Silent,Nonsense_Q111X,Nonsense_Q85X,Nonsense_Q111X rs6697598 1 241105515 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs431188 1 241117850 [A/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3912107 1 241126234 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11586002 1 241133704 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3911618 1 241145243 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10802917 1 241148960 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9786932 1 241152090 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6657011 1 241159338 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10926391 1 241161151 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs575226 1 241161648 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs785539 1 241167010 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6663803 1 241185048 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs523361 1 241186056 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs662023 1 241186585 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11590400 1 241202525 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12059322 1 241205433 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10926408 1 241210870 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2678778 1 241242629 [T/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2500246 1 241249273 [A/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2502426 1 241254147 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2492988 1 241257765 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2678780 1 241258422 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm163584 1 241262028 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 EXON Missense_K38R,Missense_K12R,Missense_K12R,Missense_K12R,Missense_K38R,Missense_K38R,Missense_K38R,Missense_K12R,Missense_K38R rs2500242 1 241268695 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12024588 1 241280303 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4339853 1 241281193 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7550909 1 241286525 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4131804 1 241288878 [T/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6685517 1 241290401 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12067659 1 241292292 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4592252 1 241294998 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4660032 1 241304206 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10465632 1 241320367 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12126298 1 241331883 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6429246 1 241334960 [T/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6677639 1 241340415 [T/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4072897 1 241342330 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6667456 1 241344093 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4659590 1 241344426 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12127470 1 241353778 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12025118 1 241356618 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11802564 1 241357782 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1915872 1 241361793 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1915877 1 241363241 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10802934 1 241365280 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2177116 1 241375848 [T/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2686226 1 241376512 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1915884 1 241383781 [A/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6662036 1 241388129 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2815854 1 241395811 [T/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2686240 1 241400004 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2815834 1 241401288 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4359023 1 241403497 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9428501 1 241408548 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10926443 1 241421911 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10926446 1 241428109 [A/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7511717 1 241428657 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4660051 1 241433847 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4659596 1 241439672 [A/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12097296 1 241451891 [T/C] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10737856 1 241455756 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7355007 1 241459462 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7512603 1 241494578 [A/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10737861 1 241509795 [T/G] NM_002924,NM_001350116,NM_001350115,NM_001350113,NM_001282778,NM_001282773,NM_001282775,NM_001350114,NM_001364886 RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7,RGS7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12038803 1 241522325 [A/G] rs10926468 1 241526489 [A/G] rs10926472 1 241533392 [A/G] rs4660075 1 241535092 [A/G] rs9651084 1 241535414 [A/C] exm2264974 1 241542793 [A/G] rs2341938 1 241546751 [A/G] rs10802960 1 241561050 [T/C] rs1341448 1 241576287 [T/C] rs1341452 1 241577094 [T/G] rs3014560 1 241581283 [T/C] rs1539098 1 241585499 [A/C] rs1544190 1 241586834 [T/C] rs3014552 1 241596981 [T/C] rs1578488 1 241608403 [T/C] rs4660089 1 241611462 [T/C] rs1578486 1 241615673 [A/G] rs7540470 1 241625863 [T/C] rs2994978 1 241633413 [A/C] rs10926494 1 241637536 [A/G] rs10754728 1 241639401 [T/C] rs10157091 1 241650163 [A/G] rs947306 1 241659359 [T/C] variant.10977 1 241665738 [T/C] NM_000143 FH Silent exm163604 1 241665852 [T/G] NM_000143 FH EXON Missense_Q376P exm163613 1 241669324 [T/C] NM_000143 FH EXON Missense_A295T indel.10980 1 241675318 [I/D] NM_000143 FH EXON exm2273760 1 241676979 [T/C] NM_000143 FH EXON Missense_R101Q rs2992644 1 241678668 [T/C] NM_000143 FH Silent rs6678766 1 241690554 [A/G] exm163643 1 241695758 [T/C] NM_003679 KMO EXON Missense_V5A exm163644 1 241695784 [A/G] NM_003679 KMO EXON Missense_I14V rs2992641 1 241700371 [A/G] NM_003679 KMO Silent rs2050512 1 241704726 [T/C] NM_003679 KMO Silent rs11587924 1 241707102 [T/C] NM_003679 KMO Silent variant.10981 1 241712982 [T/C] NM_003679 KMO EXON Nonsense_R44X exm163653 1 241712992 [A/C] NM_003679 KMO EXON Missense_T47N rs3007738 1 241720543 [A/C] NM_003679 KMO Silent exm2250938 1 241725512 [T/A] NM_003679 KMO EXON Synonymous_G165G rs12139931 1 241727309 [T/G] NM_003679 KMO Silent exm163675 1 241729855 [A/G] NM_003679 KMO EXON Missense_N251S rs2275163 1 241730054 [T/C] NM_003679 KMO Silent exm163688 1 241753378 [T/C] NM_003679 KMO EXON Missense_A388V exm2250939 1 241753394 [A/C] NM_003679 KMO EXON Synonymous_T393T exm163697 1 241753546 [A/G] NM_003679 KMO EXON Missense_R414H exm1770862 1 241755320 [A/G] NM_003679 KMO EXON Missense_I442M exm163701 1 241755348 [T/C] NM_003679 KMO EXON Missense_R452C rs1053230 1 241755348 [T/C] NM_003679 KMO EXON Missense_R452C exm163702 1 241755349 [A/G] NM_003679 KMO EXON Missense_R452H exm163708 1 241755414 [A/G] NM_003679 KMO EXON Missense_V474M exm163711 1 241755439 [A/G] NM_003679 KMO EXON Missense_N482S variant.10986 1 241755452 [A/G] NM_003679 KMO EXON Synonymous_R486R exm163712 1 241755453 [T/C] NM_003679 KMO EXON Missense_X487R rs1053221 1 241755567 [T/C] NM_003679 KMO EXON Silent exm163721 1 241757789 [T/C] NM_003679,NM_014322 KMO,OPN3 EXON Silent,Missense_D384N exm1770870 1 241757947 [T/C] NM_003679,NM_014322 KMO,OPN3 EXON Silent,Missense_C331Y exm163727 1 241757989 [T/C] NM_003679,NM_014322 KMO,OPN3 EXON Silent,Missense_R317Q rs588246 1 241758302 [T/C] NM_003679,NM_014322 KMO,OPN3 EXON Silent,Silent rs1053183 1 241758631 [A/G] NM_003679,NM_014322 KMO,OPN3 EXON Silent,Silent exm163730 1 241761077 [G/C] NM_014322 OPN3 EXON Missense_P306A exm163736 1 241761225 [T/C] NM_014322 OPN3 EXON Missense_M256I exm163741 1 241767627 [A/G] NM_014322 OPN3 EXON Missense_C210R exm163747 1 241767708 [T/C] NM_014322 OPN3 EXON Missense_V183I exm163748 1 241767722 [G/C] NM_014322 OPN3 EXON Missense_R178T indel.10989 1 241767801 [I/D] NM_014322 OPN3 EXON exm1770878 1 241767854 [A/G] NM_014322 OPN3 EXON Missense_V134A rs587640 1 241790148 [A/G] NM_014322 OPN3 Silent rs3765821 1 241794231 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Silent exm163756 1 241797175 [T/G] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_N632H indel.10991 1 241797559 [D/I] NM_014322,NM_001821 OPN3,CHML EXON exm163766 1 241797600 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_R490Q exm163774 1 241797819 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_R417Q exm163775 1 241797835 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_D412N exm163778 1 241797856 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_K405E variant.10992 1 241797925 [A/G] NM_014322,NM_001821 OPN3,CHML EXON Silent,Nonsense_Q382X exm163782 1 241797963 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_R369Q exm163784 1 241797975 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_Q365R exm163786 1 241798007 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_I354M exm163791 1 241798059 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_H337R indel.10993 1 241798072 [D/I] NM_014322,NM_001821 OPN3,CHML EXON exm163808 1 241798302 [T/G] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_Y256S exm163809 1 241798305 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_R255H exm163814 1 241798443 [A/G] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_A209V exm163815 1 241798451 [T/G] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_E206D exm163821 1 241798684 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_N129D indel.10997 1 241798686 [I/D] NM_014322,NM_001821 OPN3,CHML EXON indel.10998 1 241798772 [D/I] NM_014322,NM_001821 OPN3,CHML EXON exm163835 1 241799029 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_I14V exm1770895 1 241799058 [T/C] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_N4S exm163837 1 241799064 [A/G] NM_014322,NM_001821 OPN3,CHML EXON Silent,Missense_A2V rs3819981 1 241800324 [A/G] NM_014322 OPN3 Silent rs615141 1 241806979 [A/G] rs6663216 1 241809865 [T/C] rs6663223 1 241809896 [T/C] rs1537802 1 241811131 [T/G] rs10802975 1 241813771 [T/C] exm163855 1 241823862 [T/C] NM_144625 WDR64 EXON Missense_S59L exm163858 1 241823909 [C/G] NM_144625 WDR64 EXON Missense_R75G exm163859 1 241823930 [A/G] NM_144625 WDR64 EXON Missense_N82D rs6682476 1 241826698 [A/G] NM_144625 WDR64 Silent rs7513188 1 241833287 [T/C] NM_144625 WDR64 Silent rs7419051 1 241841958 [T/C] NM_144625 WDR64 Silent exm163864 1 241842832 [T/C] NM_144625 WDR64 EXON Nonsense_R177X rs12069748 1 241843408 [T/G] NM_144625 WDR64 Silent newrs146648760 1 241846829 [I/D] NM_144625 WDR64 EXON exm163876 1 241850851 [A/G] NM_144625 WDR64 EXON Missense_N300D rs12133073 1 241851745 [A/G] NM_144625 WDR64 Silent rs10926534 1 241854641 [A/G] NM_144625 WDR64 Silent rs9428886 1 241854809 [A/G] NM_144625 WDR64 Silent rs7418366 1 241855644 [T/C] NM_144625 WDR64 Silent rs10926538 1 241862049 [A/G] NM_144625 WDR64 Silent rs9428890 1 241868349 [A/G] NM_144625 WDR64 Silent rs12095196 1 241874729 [A/G] NM_144625 WDR64 Silent exm163880 1 241875105 [A/C] NM_144625 WDR64 EXON Missense_P316T rs7418763 1 241878353 [A/G] NM_144625 WDR64 Silent exm-rs12569163 1 241878547 [T/G] NM_144625 WDR64 Silent rs12725593 1 241882665 [T/G] NM_144625 WDR64 Silent rs7519667 1 241885307 [T/C] NM_144625 WDR64 Silent exm163888 1 241886645 [C/G] NM_144625 WDR64 EXON Missense_K357N exm163896 1 241886740 [T/A] NM_144625 WDR64 Silent rs7554209 1 241887241 [T/C] NM_144625 WDR64 Silent rs6690359 1 241891040 [A/G] NM_144625 WDR64 Silent rs10926556 1 241897899 [A/T] NM_144625 WDR64 Silent rs10926558 1 241899337 [A/G] NM_144625 WDR64 Silent rs6695661 1 241901183 [A/C] NM_144625 WDR64 Silent variant.11008 1 241904931 [T/C] NM_144625 WDR64 EXON Nonsense_Q469X indel.11009 1 241907746 [D/I] NM_144625 WDR64 EXON exm163914 1 241907779 [A/G] NM_144625 WDR64 EXON Missense_D509N exm163917 1 241907817 [T/C] NM_144625 WDR64 EXON Synonymous_N521N exm163922 1 241912941 [T/C] NM_144625 WDR64 EXON Missense_R553C rs7530797 1 241914626 [T/C] NM_144625 WDR64 Silent exm163925 1 241920634 [T/C] NM_144625 WDR64 EXON Missense_V597A exm163933 1 241920761 [T/C] NM_144625 WDR64 EXON Synonymous_D639D rs7551270 1 241925878 [T/G] NM_144625 WDR64 Silent variant.11013 1 241929541 [T/C] NM_144625 WDR64 EXON Nonsense_R647X exm163935 1 241929542 [A/G] NM_144625 WDR64 EXON Missense_R647Q exm163936 1 241929590 [T/C] NM_144625 WDR64 EXON Missense_A663V variant.11015 1 241932705 [T/G] NM_144625 WDR64 Silent indel.11016 1 241933964 [I/D] NM_144625 WDR64 EXON rs12091522 1 241934757 [T/C] NM_144625 WDR64 Silent rs952084 1 241946294 [A/G] NM_144625 WDR64 Silent exm163953 1 241946599 [A/G] NM_144625 WDR64 EXON Missense_R864H exm2250941 1 241946766 [A/C] NM_144625 WDR64 Silent exm1770949 1 241951305 [T/C] NM_144625 WDR64 EXON Missense_Y944H rs12074374 1 241951329 [T/C] NM_144625 WDR64 EXON Missense_R952W exm163968 1 241951329 [T/C] NM_144625 WDR64 EXON Missense_R952W rs7524442 1 241951703 [T/C] NM_144625 WDR64 Silent var_1_241958508 1 241958508 [T/G] NM_144625 WDR64 Silent exm163972 1 241958512 [T/C] NM_144625 WDR64 EXON Nonsense_R991X exm163973 1 241958513 [A/G] NM_144625 WDR64 EXON Missense_R991Q exm163975 1 241958518 [T/C] NM_144625 WDR64 EXON Missense_Y993H var_1_241958547 1 241958548 [I/D] NM_144625 WDR64 EXON rs6673963 1 241958977 [T/C] NM_144625 WDR64 Silent exm163984 1 241959601 [A/G] NM_144625 WDR64 EXON Missense_V1031I indel.11022 1 241959673 [D/I] NM_144625 WDR64 rs1342866 1 241960669 [T/C] NM_144625 WDR64 Silent newrs141549635 1 241964440 [T/C] NM_144625 WDR64 EXON Nonsense_R1057X exm163989 1 241964468 [T/C] NM_144625 WDR64 EXON Missense_V1066A exm163990 1 241964517 [A/C] NM_144625 WDR64 EXON Missense_X1082Y rs12565340 1 241978738 [T/C] rs9428896 1 241979567 [A/C] rs1342872 1 241980222 [T/C] rs10489350 1 241993831 [T/C] rs12038477 1 241994183 [A/C] rs9287256 1 242000788 [T/C] exm2232887 1 242012033 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Silent,Silent,Silent,Silent variant.11024 1 242013828 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Nonsense_W34X,Nonsense_W34X,Nonsense_W34X,Nonsense_W34X variant.11025 1 242013839 [T/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Nonsense_G38X,Nonsense_G38X,Nonsense_G38X,Nonsense_G38X rs4149864 1 242015658 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_V76I,Missense_V76I,Missense_V76I,Missense_V76I exm164003 1 242015658 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_V76I,Missense_V76I,Missense_V76I,Missense_V76I exm164007 1 242015699 [G/C] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_E89D,Missense_E89D,Missense_E89D,Missense_E89D exm164009 1 242015709 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_R93G,Missense_R93G,Missense_R93G,Missense_R93G exm164012 1 242016703 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_E109K,Missense_E109K,Missense_E109K,Missense_E109K newrs143546023 1 242016703 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_E109K,Missense_E109K,Missense_E109K,Missense_E109K exm164021 1 242020650 [T/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_A137S,Missense_A137S,Missense_A137S,Missense_A137S exm164023 1 242020670 [A/T] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_D143E,Missense_D143E,Missense_D143E,Missense_D143E exm164026 1 242020713 [G/C] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_L158V,Missense_L158V,Missense_L158V,Missense_L158V exm164029 1 242020734 [A/C] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_Q165K,Missense_Q165K,Missense_Q165K,Missense_Q165K exm164034 1 242022009 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_D249N,Missense_D249N,Missense_D249N,Missense_D249N rs2526699 1 242022130 [T/C] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 Silent,Silent,Silent,Silent rs4149903 1 242022297 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 Silent,Silent,Silent,Silent exm164038 1 242023871 [T/A] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_D270V,Missense_D270V,Missense_D270V,Missense_D270V exm164039 1 242023882 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_G274R,Missense_G274R,Missense_G274R,Missense_G274R exm164041 1 242023898 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_N279S,Missense_N279S,Missense_N279S,Missense_N279S exm164045 1 242023971 [T/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_D303E,Missense_D303E,Missense_D303E,Missense_D303E rs1776133 1 242025098 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 Silent,Silent,Silent,Silent rs1776139 1 242027363 [T/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 Silent,Silent,Silent,Silent exm164055 1 242030151 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_H354R,Missense_H354R,Missense_H354R,Missense_H354R rs735943 1 242030151 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_H354R,Missense_H354R,Missense_H354R,Missense_H354R exm1771010 1 242030171 [A/T] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_C361S,Missense_C361S,Missense_C361S,Missense_C361S variant.11029 1 242030203 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Nonsense_W371X,Nonsense_W371X,Nonsense_W371X,Nonsense_W371X exm164057 1 242030207 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_R373G,Missense_R373G,Missense_R373G,Missense_R373G var_1_242030291 1 242030291 [T/C] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Nonsense_R401X,Nonsense_R401X,Nonsense_R401X,Nonsense_R401X indel.11031 1 242030334 [D/I] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON exm164063 1 242030355 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_S422N,Missense_S422N,Missense_S422N,Missense_S422N exm164065 1 242035334 [A/C] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Silent,Missense_A423E,Missense_A423E,Missense_A423E exm164066 1 242035382 [T/C] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_T438M,Missense_T439M,Missense_T439M,Missense_T439M exm164067 1 242035403 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_S445N,Missense_S446N,Missense_S446N,Missense_S446N exm164068 1 242035430 [T/C] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_F454S,Missense_F455S,Missense_F455S,Missense_F455S exm164069 1 242035433 [A/C] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_S455Y,Missense_S456Y,Missense_S456Y,Missense_S456Y exm164070 1 242035438 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_V457M,Missense_V458M,Missense_V458M,Missense_V458M exm164072 1 242035444 [C/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_V459L,Missense_V460L,Missense_V460L,Missense_V460L exm164077 1 242035514 [T/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_F482C,Missense_F483C,Missense_F483C,Missense_F483C rs1635501 1 242040775 [T/C] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 Silent,Silent,Silent,Silent indel.11032 1 242042052 [I/D] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON indel.11033 1 242042114 [D/I] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON exm164088 1 242042205 [T/C] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_R556C,Missense_R557C,Missense_R557C,Missense_R557C exm164089 1 242042206 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_R556H,Missense_R557H,Missense_R557H,Missense_R557H exm164096 1 242042301 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_E588K,Missense_E589K,Missense_E589K,Missense_E589K exm164099 1 242042337 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_T600A,Missense_T601A,Missense_T601A,Missense_T601A exm164101 1 242042364 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_S609G,Missense_S610G,Missense_S610G,Missense_S610G exm2275554 1 242042454 [C/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_P639A,Missense_P640A,Missense_P640A,Missense_P640A exm164106 1 242042466 [T/C] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_P643S,Missense_P644S,Missense_P644S,Missense_P644S exm164110 1 242042505 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_E656K,Missense_E657K,Missense_E657K,Missense_E657K exm164114 1 242042545 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_E669G,Missense_E670G,Missense_E670G,Missense_E670G exm164118 1 242045260 [T/C] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Nonsense_Q717X,Nonsense_Q718X,Nonsense_Q718X,Nonsense_Q718X exm164119 1 242045275 [T/C] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_R722C,Missense_R723C,Missense_R723C,Missense_R723C indel.11038 1 242048624 [D/I] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON exm164127 1 242048674 [T/C] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_P756L,Missense_P757L,Missense_P757L,Missense_P757L exm164128 1 242048680 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_G758E,Missense_G759E,Missense_G759E,Missense_G759E exm164129 1 242048713 [T/C] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_P769L,Missense_P770L,Missense_P770L,Missense_P770L rs4150005 1 242050736 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 Silent,Silent,Silent,Silent exm164131 1 242052841 [T/C] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Missense_A826V,Missense_A827V,Missense_A827V,Silent exm2273350 1 242053042 [A/G] NM_001319224,NM_130398,NM_006027,NM_003686 EXO1,EXO1,EXO1,EXO1 EXON Silent,Silent,Silent,Silent rs4658535 1 242059221 [A/G] rs851785 1 242063452 [A/G] rs1776170 1 242064151 [A/G] rs7551606 1 242064633 [A/G] rs12568965 1 242070731 [A/G] rs6660916 1 242074809 [T/G] rs12722924 1 242080853 [A/G] rs6664298 1 242081875 [A/G] rs12057998 1 242086079 [T/C] rs4658565 1 242087644 [T/C] rs3845563 1 242098415 [T/C] rs11581005 1 242106296 [A/G] rs28674674 1 242109010 [A/G] rs3851304 1 242121796 [T/G] NM_001290693 BECN2 EXON Missense_R243M rs1040264 1 242127836 [A/G] rs2102911 1 242148832 [A/G] rs28373959 1 242150334 [T/C] rs28757855 1 242158192 [T/C] exm164145 1 242159566 [T/C] NM_001004343 MAP1LC3C EXON Missense_V115M exm164146 1 242159614 [T/C] NM_001004343 MAP1LC3C EXON Missense_A99T exm164155 1 242162132 [T/G] NM_001004343 MAP1LC3C EXON Synonymous_A20A variant.11044 1 242162248 [T/C] NM_001004343 MAP1LC3C Silent variant.11045 1 242162298 [A/G] NM_001004343 MAP1LC3C EXON Nonsense_Q5X rs28534947 1 242162874 [T/C] rs28407556 1 242171251 [A/G] rs6673338 1 242200884 [A/G] rs4641297 1 242203795 [A/G] rs12042710 1 242222470 [T/G] rs9428536 1 242233314 [T/C] rs10803015 1 242243178 [A/G] rs6681101 1 242243325 [A/G] rs10926618 1 242251696 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 EXON Silent,Silent,Silent,Silent exm164166 1 242253166 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 EXON Missense_R534Q,Missense_R472Q,Missense_R326Q,Missense_R442Q exm164170 1 242253188 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 EXON Missense_D527N,Missense_D465N,Missense_D319N,Missense_D435N rs12135876 1 242263834 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent variant.11046 1 242270973 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 EXON Synonymous_V413V,Synonymous_V351V,Synonymous_V205V,Synonymous_V321V variant.11047 1 242271092 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 EXON Nonsense_R374X,Nonsense_R312X,Nonsense_R166X,Nonsense_R282X rs10803016 1 242274908 [T/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent exm164188 1 242277253 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 EXON Missense_K337E,Missense_K275E,Missense_K129E,Missense_K245E rs2800756 1 242283539 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs6672510 1 242284412 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs2252440 1 242292280 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs1898152 1 242292690 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs7541781 1 242293918 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs2840609 1 242301917 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs892929 1 242304648 [A/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs2636257 1 242306890 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs10926624 1 242310046 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs316840 1 242322529 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs737133 1 242322870 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs1393299 1 242329791 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs316896 1 242329814 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs11809579 1 242344395 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs2013655 1 242345289 [T/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs12135329 1 242347587 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs316837 1 242350414 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs2036408 1 242360179 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs12098208 1 242368250 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs6690415 1 242374995 [T/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs6429339 1 242375779 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs1604506 1 242380057 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs10926652 1 242380948 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent variant.11048 1 242383289 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs1609951 1 242384733 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs390956 1 242398403 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs425246 1 242404260 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs2636249 1 242407470 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs12040225 1 242408299 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs397121 1 242408701 [A/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs404323 1 242409100 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs316901 1 242411114 [T/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs3913529 1 242427162 [T/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent exm164238 1 242428640 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 EXON Synonymous_K202K,Synonymous_K140K,Silent,Synonymous_K110K exm164241 1 242428735 [G/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 EXON Missense_E171Q,Missense_E109Q,Silent,Missense_E79Q exm2268985 1 242431557 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs1837400 1 242447126 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs4123234 1 242453104 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs2754471 1 242453226 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs3863747 1 242477255 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent kgp11203809 1 242479580 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent kgp3200214 1 242481568 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs1418428 1 242529469 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs1439524 1 242531619 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs10754763 1 242537612 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs7547268 1 242539043 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent exm2264975 1 242545875 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs1342362 1 242551698 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs2654862 1 242554564 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs2796135 1 242555949 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs2809985 1 242562721 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs924774 1 242566034 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs12410712 1 242567214 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs7532175 1 242578674 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs2810017 1 242580359 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs1394060 1 242593858 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs1503794 1 242593873 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs4339844 1 242599000 [T/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs2654881 1 242600263 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs2055536 1 242603059 [A/G] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs2810034 1 242606388 [T/C] NM_152666,NM_001195811,NM_001195812,NM_001320272 PLD5,PLD5,PLD5,PLD5 Silent,Silent,Silent,Silent rs1473576 1 242618940 [A/G] NM_152666,NM_001320272 PLD5,PLD5 Silent,Silent rs10926744 1 242619825 [T/C] NM_152666,NM_001320272 PLD5,PLD5 Silent,Silent rs11589847 1 242627009 [A/G] NM_152666,NM_001320272 PLD5,PLD5 Silent,Silent rs4658484 1 242628042 [A/G] NM_152666,NM_001320272 PLD5,PLD5 Silent,Silent rs4658486 1 242628122 [A/C] NM_152666,NM_001320272 PLD5,PLD5 Silent,Silent rs1548160 1 242641923 [T/G] NM_152666,NM_001320272 PLD5,PLD5 Silent,Silent rs7526731 1 242652356 [A/C] NM_152666,NM_001320272 PLD5,PLD5 Silent,Silent rs10803047 1 242653512 [A/G] NM_152666,NM_001320272 PLD5,PLD5 Silent,Silent rs1875757 1 242658747 [T/C] NM_152666,NM_001320272 PLD5,PLD5 Silent,Silent rs10926756 1 242662040 [T/C] NM_152666,NM_001320272 PLD5,PLD5 Silent,Silent rs2342271 1 242663273 [T/C] NM_152666,NM_001320272 PLD5,PLD5 Silent,Silent rs905581 1 242663386 [T/C] NM_152666,NM_001320272 PLD5,PLD5 Silent,Silent rs2654856 1 242669380 [T/C] NM_152666,NM_001320272 PLD5,PLD5 Silent,Silent rs2809992 1 242673425 [A/G] NM_152666,NM_001320272 PLD5,PLD5 Silent,Silent rs2654892 1 242673570 [A/C] NM_152666,NM_001320272 PLD5,PLD5 Silent,Silent rs2654897 1 242677578 [T/C] NM_152666,NM_001320272 PLD5,PLD5 Silent,Silent rs2810005 1 242682532 [A/G] NM_152666,NM_001320272 PLD5,PLD5 Silent,Silent exm164247 1 242687390 [A/G] NM_152666,NM_001320272 PLD5,PLD5 EXON Synonymous_H63H,Silent rs12067469 1 242690935 [T/C] rs7551349 1 242695639 [T/C] rs12403816 1 242706443 [T/G] rs4618952 1 242723279 [T/G] rs4658825 1 242726365 [A/G] rs7523794 1 242733044 [A/C] rs6658662 1 242740810 [A/G] rs1938341 1 242741023 [A/G] rs4658827 1 242746708 [A/G] rs1938329 1 242748068 [T/C] rs7527225 1 242765473 [A/G] rs7549010 1 242777990 [A/G] rs12729887 1 242789505 [A/G] rs1316440 1 242791710 [A/G] rs6686107 1 242799117 [A/G] rs10926799 1 242800080 [T/C] rs1413214 1 242805821 [A/G] rs6668917 1 242806621 [T/C] rs10926807 1 242811179 [T/C] rs2184185 1 242811594 [T/C] rs12042953 1 242812831 [A/G] rs1333696 1 242819974 [T/G] rs10159343 1 242820837 [A/G] rs11580100 1 242827332 [T/C] rs10926819 1 242840908 [T/C] rs914949 1 242840987 [T/C] rs12127991 1 242855782 [T/C] rs6429370 1 242856566 [T/C] rs10926825 1 242856854 [T/C] rs6659331 1 242856905 [A/G] rs1413202 1 242872032 [A/C] rs11584716 1 242872549 [A/G] rs10926828 1 242873595 [T/C] rs12561770 1 242874434 [T/C] rs6690236 1 242878998 [T/C] exm2268851 1 242881598 [T/C] rs914940 1 242889492 [T/C] rs10926833 1 242890160 [T/G] rs12075764 1 242907976 [T/C] rs1007097 1 242915189 [A/C] rs12407826 1 242919558 [A/C] rs1855368 1 242919916 [T/C] rs10436949 1 242921641 [T/C] rs7527876 1 242928602 [T/C] rs7514112 1 242928876 [T/C] rs10926848 1 242931513 [A/G] rs12406043 1 242940149 [A/G] rs4658858 1 242941556 [T/C] rs9943068 1 242946169 [T/C] rs2780784 1 242959776 [T/C] rs12126980 1 242964870 [A/C] rs1889220 1 242965985 [T/C] rs2502326 1 242974898 [T/C] rs2210612 1 242989157 [T/C] rs1333704 1 242992478 [T/C] rs4658860 1 243000992 [T/G] rs10926883 1 243004424 [T/G] rs12407970 1 243004669 [T/C] rs10926898 1 243027814 [T/G] rs12022794 1 243028780 [T/G] rs4535989 1 243033446 [A/G] rs12032023 1 243040970 [T/C] rs4278360 1 243053057 [A/G] rs4658507 1 243056401 [A/G] rs2491828 1 243056785 [T/C] exm2268986 1 243070467 [T/C] rs2502313 1 243086195 [T/C] rs3003542 1 243087106 [T/C] rs6658433 1 243089466 [T/C] rs2998676 1 243102869 [T/C] rs12741729 1 243119242 [T/G] rs12039141 1 243147031 [A/G] rs4098386 1 243181599 [T/G] kgp15196474 1 243189385 [T/C] kgp15548040 1 243266970 [A/G] rs4658537 1 243277476 [T/G] rs6429411 1 243298257 [T/C] NM_014812,NM_001042404,NM_001042405 CEP170,CEP170,CEP170 Silent,Silent,Silent rs4658538 1 243309191 [A/G] NM_014812,NM_001042404,NM_001042405 CEP170,CEP170,CEP170 Silent,Silent,Silent exm164272 1 243319701 [A/G] NM_014812,NM_001042404,NM_001042405 CEP170,CEP170,CEP170 EXON Missense_F1245L,Missense_F1147L,Silent exm164276 1 243327736 [T/C] NM_014812,NM_001042404,NM_001042405 CEP170,CEP170,CEP170 EXON Missense_A1176T,Missense_A1078T,Missense_A1078T exm164301 1 243329049 [A/G] NM_014812,NM_001042404,NM_001042405 CEP170,CEP170,CEP170 EXON Missense_T738I,Missense_T640I,Missense_T640I exm164323 1 243349655 [T/C] NM_014812,NM_001042404,NM_001042405 CEP170,CEP170,CEP170 EXON Missense_R393H,Missense_R393H,Missense_R393H exm164324 1 243349667 [T/C] NM_014812,NM_001042404,NM_001042405 CEP170,CEP170,CEP170 EXON Missense_R389H,Missense_R389H,Missense_R389H rs10926962 1 243355772 [T/C] NM_014812,NM_001042404,NM_001042405 CEP170,CEP170,CEP170 Silent,Silent,Silent exm2264976 1 243385307 [A/G] NM_014812,NM_001042404,NM_001042405 CEP170,CEP170,CEP170 Silent,Silent,Silent rs6662991 1 243410208 [A/G] NM_014812,NM_001042404,NM_001042405 CEP170,CEP170,CEP170 Silent,Silent,Silent exm164349 1 243434296 [T/A] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Silent,Missense_D79E,Silent,Silent,Silent,Missense_D79E exm164354 1 243434337 [T/C] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Silent,Missense_P93L,Silent,Silent,Silent,Missense_P93L exm164359 1 243437886 [T/C] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Silent,Synonymous_H116H,Silent,Synonymous_H18H,Silent,Synonymous_H116H exm2250950 1 243437886 [T/C] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Silent,Synonymous_H116H,Silent,Synonymous_H18H,Silent,Synonymous_H116H rs10803133 1 243454014 [A/G] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 Silent,Silent,Silent,Silent,Silent,Silent exm164373 1 243456418 [T/C] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Silent,Missense_T191I,Silent,Missense_T93I,Silent,Missense_T191I exm164385 1 243471328 [G/C] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Silent,Missense_L260V,Silent,Missense_L162V,Silent,Missense_L292V exm164389 1 243471416 [A/G] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Silent,Missense_H289R,Silent,Missense_H191R,Silent,Missense_H321R exm164393 1 243471475 [A/G] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Missense_V8I,Missense_V309I,Missense_V8I,Missense_V211I,Missense_V8I,Missense_V341I variant.11051 1 243480055 [A/C] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 Silent,Silent,Silent,Silent,Silent,Silent exm164396 1 243480091 [A/G] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Missense_V21I,Missense_V322I,Missense_V21I,Missense_V224I,Missense_V21I,Missense_V354I exm164397 1 243480113 [T/C] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Missense_T28M,Missense_T329M,Missense_T28M,Missense_T231M,Missense_T28M,Missense_T361M rs10926989 1 243483368 [T/C] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 Silent,Silent,Silent,Silent,Silent,Silent rs2484638 1 243487371 [A/G] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 Silent,Silent,Silent,Silent,Silent,Silent exm1771270 1 243493867 [A/G] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Missense_R64K,Missense_R365K,Missense_R64K,Missense_R267K,Missense_R64K,Missense_R397K exm1771271 1 243493888 [G/C] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Missense_A71G,Missense_A372G,Missense_A71G,Missense_A274G,Missense_A71G,Missense_A404G rs2802723 1 243498312 [T/C] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 Silent,Silent,Silent,Silent,Silent,Silent rs2802722 1 243498533 [A/G] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 Silent,Silent,Silent,Silent,Silent,Silent exm164412 1 243507540 [C/G] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Missense_Q159H,Missense_Q460H,Missense_Q159H,Missense_Q362H,Missense_Q159H,Missense_Q492H exm164414 1 243507569 [A/G] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Missense_E169G,Missense_E470G,Missense_E169G,Missense_E372G,Missense_E169G,Missense_E502G indel.11053 1 243507579 [D/I] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON exm2232895 1 243507583 [T/C] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Missense_H174Y,Missense_H475Y,Missense_H174Y,Missense_H377Y,Missense_H174Y,Missense_H507Y rs2490393 1 243522906 [A/G] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 Silent,Silent,Silent,Silent,Silent,Silent exm164416 1 243542050 [G/C] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Missense_D200H,Missense_D501H,Missense_D200H,Missense_D403H,Missense_D200H,Missense_D533H rs10927011 1 243579112 [A/G] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Synonymous_E274E,Synonymous_E575E,Synonymous_E274E,Synonymous_E477E,Synonymous_E274E,Synonymous_E607E exm164432 1 243589811 [A/G] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Missense_E345K,Missense_E646K,Missense_E345K,Missense_E548K,Missense_E345K,Missense_E678K variant.11054 1 243589817 [T/C] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 EXON Nonsense_Q347X,Nonsense_Q648X,Nonsense_Q347X,Nonsense_Q550X,Nonsense_Q347X,Nonsense_Q680X rs6685276 1 243603132 [A/G] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 Silent,Silent,Silent,Silent,Silent,Silent rs6703335 1 243608967 [A/G] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 Silent,Silent,Silent,Silent,Silent,Silent rs11810833 1 243617188 [T/G] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 Silent,Silent,Silent,Silent,Silent,Silent rs10927025 1 243639218 [T/C] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 Silent,Silent,Silent,Silent,Silent,Silent rs1008173 1 243644497 [A/G] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8 Silent,Silent,Silent,Silent,Silent,Silent indel.11055 1 243652337 [D/I] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248,NM_181690 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,AKT3 EXON rs884328 1 243654278 [A/G] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248,NM_181690 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,AKT3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3006928 1 243658030 [A/G] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248,NM_181690 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,AKT3 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.11058 1 243663089 [T/C] NM_001350246,NM_006642,NM_001350251,NM_001350249,NM_001350247,NM_001350248,NM_181690,NM_001206729,NM_005465 SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,SDCCAG8,AKT3,AKT3,AKT3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1058304 1 243664857 [T/C] NM_181690,NM_001206729,NM_005465 AKT3,AKT3,AKT3 EXON Silent,Silent,Silent rs12144559 1 243723214 [A/C] NM_181690,NM_001206729,NM_005465 AKT3,AKT3,AKT3 Silent,Silent,Silent rs10927040 1 243731693 [T/C] NM_181690,NM_001206729,NM_005465 AKT3,AKT3,AKT3 Silent,Silent,Silent rs320311 1 243781844 [T/C] NM_181690,NM_001206729,NM_005465 AKT3,AKT3,AKT3 Silent,Silent,Silent rs10927046 1 243801190 [T/C] NM_181690,NM_001206729,NM_005465 AKT3,AKT3,AKT3 Silent,Silent,Silent rs4658588 1 243846271 [A/G] NM_181690,NM_001206729,NM_005465 AKT3,AKT3,AKT3 Silent,Silent,Silent rs6686591 1 243853830 [T/C] NM_181690,NM_001206729,NM_005465 AKT3,AKT3,AKT3 Silent,Silent,Silent rs2125230 1 243885848 [A/G] NM_181690,NM_001206729,NM_005465 AKT3,AKT3,AKT3 Silent,Silent,Silent rs9782883 1 243892532 [A/G] NM_181690,NM_001206729,NM_005465 AKT3,AKT3,AKT3 Silent,Silent,Silent rs10803155 1 243894782 [A/G] NM_181690,NM_001206729,NM_005465 AKT3,AKT3,AKT3 Silent,Silent,Silent rs12048930 1 243940076 [T/C] NM_181690,NM_001206729,NM_005465 AKT3,AKT3,AKT3 Silent,Silent,Silent exm-rs4132509 1 243943084 [A/C] NM_181690,NM_001206729,NM_005465 AKT3,AKT3,AKT3 Silent,Silent,Silent rs10733129 1 243957150 [A/G] NM_181690,NM_001206729,NM_005465 AKT3,AKT3,AKT3 Silent,Silent,Silent exm2268987 1 243995041 [T/C] NM_181690,NM_001206729,NM_005465 AKT3,AKT3,AKT3 Silent,Silent,Silent rs9428588 1 243998734 [T/G] NM_181690,NM_001206729,NM_005465 AKT3,AKT3,AKT3 Silent,Silent,Silent rs4430311 1 244015993 [T/C] rs10803168 1 244060651 [A/G] rs4658405 1 244061500 [A/G] exm2268852 1 244091316 [T/C] NR_033883 LOC339529 Silent rs559080 1 244096047 [T/C] NR_033883 LOC339529 Silent rs543626 1 244102151 [T/C] NR_033883 LOC339529 Silent rs484459 1 244123391 [A/G] NR_033883 LOC339529 Silent rs960091 1 244139478 [T/C] NR_033883 LOC339529 Silent rs1223870 1 244140051 [T/C] NR_033883 LOC339529 Silent rs6679009 1 244149760 [T/G] NR_033883 LOC339529 Silent rs7511723 1 244155946 [T/C] NR_033883 LOC339529 Silent rs536441 1 244160904 [A/G] NR_033883 LOC339529 Silent rs12119867 1 244164997 [T/C] NR_033883 LOC339529 Silent rs692981 1 244165607 [A/G] NR_033883 LOC339529 Silent rs1009375 1 244167131 [T/C] NR_033883 LOC339529 Silent rs6673663 1 244167596 [A/C] NR_033883 LOC339529 Silent rs12118536 1 244168955 [T/C] NR_033883 LOC339529 Silent rs510280 1 244169914 [T/C] NR_033883 LOC339529 Silent rs6429443 1 244171992 [A/G] NR_033883 LOC339529 Silent exm-rs10927101 1 244173872 [A/C] NR_033883 LOC339529 Silent exm-rs476141 1 244176424 [T/G] NR_033883 LOC339529 Silent rs12041799 1 244182973 [T/C] NR_033883 LOC339529 Silent rs2039789 1 244197500 [A/G] NR_033883 LOC339529 Silent rs1389622 1 244215864 [A/G] NM_001278196,NM_205768 ZBTB18,ZBTB18 Silent,Silent exm164508 1 244217949 [C/G] NM_001278196,NM_205768,NM_006352 ZBTB18,ZBTB18,ZBTB18 EXON Missense_E282D,Missense_E291D,Missense_E282D variant.11059 1 244218549 [T/C] NM_001278196,NM_205768,NM_006352 ZBTB18,ZBTB18,ZBTB18 EXON Synonymous_Y482Y,Synonymous_Y491Y,Synonymous_Y482Y rs10927117 1 244227434 [A/C] rs10927118 1 244229199 [T/C] rs2486538 1 244232976 [T/C] rs10927123 1 244249487 [T/G] rs2454238 1 244250317 [T/C] rs4658409 1 244256339 [T/C] rs12727340 1 244268866 [A/C] rs12042441 1 244275252 [A/G] rs10803175 1 244280081 [T/G] rs10927136 1 244287517 [T/C] rs10927137 1 244288473 [A/G] rs6695842 1 244288525 [T/C] rs12402376 1 244298163 [T/G] rs6429449 1 244302030 [T/C] rs4333836 1 244303822 [T/C] rs6695226 1 244309299 [A/G] rs10927144 1 244309780 [T/C] rs877884 1 244315274 [T/C] rs12080155 1 244315918 [A/G] rs4658413 1 244322387 [T/C] exm2250957 1 244334507 [T/C] rs11588708 1 244340598 [T/C] rs6685563 1 244345666 [T/C] rs6681086 1 244351608 [A/G] rs11577259 1 244353555 [A/G] rs7544355 1 244366307 [A/G] rs12139580 1 244373559 [T/C] rs7522710 1 244377850 [T/C] rs10927166 1 244382698 [A/G] rs12048859 1 244389589 [T/C] rs879065 1 244392845 [A/G] rs7555626 1 244404834 [A/G] rs6429457 1 244422816 [A/G] rs2505983 1 244426968 [A/C] rs11807444 1 244429291 [T/C] rs562642 1 244430145 [T/C] rs665606 1 244443403 [A/G] rs7539318 1 244464197 [T/C] rs3102471 1 244465254 [A/G] rs10803196 1 244476755 [A/C] rs7555859 1 244478883 [T/C] rs6674642 1 244483375 [A/G] rs564319 1 244491584 [A/G] rs3102474 1 244491901 [T/C] rs559798 1 244496482 [A/G] rs4658622 1 244501431 [T/C] rs4658623 1 244507827 [T/C] rs4658627 1 244511176 [A/G] rs10927202 1 244516334 [A/C] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 Silent,Silent,Silent rs4658417 1 244522070 [A/C] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 Silent,Silent,Silent rs7547047 1 244524345 [A/G] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 Silent,Silent,Silent exm164545 1 244528016 [A/G] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 EXON Missense_R5Q,Missense_R5Q,Missense_R5Q exm164546 1 244528021 [T/C] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 EXON Nonsense_R7X,Nonsense_R7X,Nonsense_R7X variant.11060 1 244528021 [T/C] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 EXON Nonsense_R7X,Nonsense_R7X,Nonsense_R7X exm164547 1 244528037 [A/G] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 EXON Missense_R12H,Missense_R12H,Missense_R12H rs3123705 1 244532937 [T/C] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 Silent,Silent,Silent rs3101457 1 244533214 [A/G] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 Silent,Silent,Silent rs3101456 1 244534781 [A/G] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 Silent,Silent,Silent exm164550 1 244538684 [A/G] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 EXON Missense_A23T,Missense_A23T,Missense_A23T exm164551 1 244538685 [T/C] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 EXON Missense_A23V,Missense_A23V,Missense_A23V exm164552 1 244538691 [A/G] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 EXON Missense_Q25R,Missense_Q25R,Missense_Q25R exm164554 1 244538702 [A/G] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 EXON Missense_V29I,Missense_V29I,Missense_V29I exm164559 1 244541773 [T/C] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 EXON Missense_L53F,Silent,Silent exm164561 1 244541827 [C/G] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 EXON Missense_D71H,Silent,Silent variant.11061 1 244541860 [T/C] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 EXON Nonsense_R82X,Silent,Silent variant.11063 1 244541911 [T/C] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 EXON Nonsense_R99X,Nonsense_R67X,Silent variant.11066 1 244552291 [T/C] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 EXON Nonsense_R122X,Nonsense_R90X,Missense_S64L exm164574 1 244552355 [T/C] NM_001012970,NM_001276348,NM_001276349 C1orf100,C1orf100,C1orf100 EXON Missense_A143V,Missense_A111V,Silent rs6429464 1 244573756 [A/G] NM_001126 ADSS Silent exm164579 1 244574657 [A/G] NM_001126 ADSS EXON Missense_A417V rs3102460 1 244576717 [T/C] NM_001126 ADSS Silent rs12087973 1 244578462 [T/C] NM_001126 ADSS Silent exm164582 1 244579342 [A/G] NM_001126 ADSS EXON Missense_T370M 1KG_1_244580979 1 244580979 [D/I] NM_001126 ADSS EXON exm164587 1 244582097 [T/C] NM_001126 ADSS EXON Missense_V304I exm164592 1 244583585 [T/C] NM_001126 ADSS EXON Missense_K226R rs3127464 1 244599858 [T/C] NM_001126 ADSS Silent rs3127465 1 244601152 [T/C] NM_001126 ADSS Silent exm164627 1 244627212 [T/A] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Missense_Y23F,Silent,Missense_Y23F exm164629 1 244627236 [A/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Missense_R31H,Silent,Missense_R31H var_1_244627258 1 244627259 [I/D] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE rs3003207 1 244631821 [T/C] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE Silent,Silent,Silent rs3124064 1 244635604 [T/C] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE Silent,Silent,Silent rs12068598 1 244636995 [A/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE Silent,Silent,Silent rs3127469 1 244637639 [T/C] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE Silent,Silent,Silent variant.11068 1 244640880 [A/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Nonsense_W51X,Silent,Nonsense_W51X exm164635 1 244641216 [A/C] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Missense_T66K,Silent,Missense_T66K exm164637 1 244641228 [A/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Missense_R70H,Silent,Missense_R70H exm164644 1 244643073 [T/C] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Missense_Y105H,Silent,Missense_Y105H exm164647 1 244653748 [G/C] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE Silent,Silent,Silent rs7524319 1 244659304 [T/C] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE Silent,Silent,Silent indel.11071 1 244681965 [I/D] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON indel.11072 1 244681996 [D/I] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON rs3005928 1 244689029 [A/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE Silent,Silent,Silent rs3003222 1 244713825 [T/C] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE Silent,Silent,Silent exm164661 1 244715677 [A/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Missense_R197K,Missense_R46K,Missense_R197K exm164672 1 244716029 [A/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Missense_I314M,Missense_I163M,Missense_I314M exm164678 1 244723989 [A/C] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Missense_T350N,Missense_T199N,Missense_T350N rs7544794 1 244724092 [A/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Synonymous_S384S,Synonymous_S233S,Synonymous_S384S exm164689 1 244724234 [T/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Missense_V432F,Missense_V281F,Missense_V432F exm164690 1 244724264 [A/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Missense_I442V,Missense_I291V,Missense_I442V exm164691 1 244724277 [T/C] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Missense_T446I,Missense_T295I,Missense_T446I exm164699 1 244735812 [T/C] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Missense_I563T,Missense_I412T,Missense_I563T rs10927267 1 244735858 [A/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Synonymous_T578T,Synonymous_T427T,Synonymous_T578T exm164708 1 244735998 [A/C] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Missense_S625Y,Missense_S474Y,Missense_S625Y exm164709 1 244736013 [T/C] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Missense_I630T,Missense_I479T,Missense_I630T rs7517558 1 244738592 [A/C] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE Silent,Silent,Silent exm164711 1 244745107 [T/C] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Missense_F654L,Missense_F503L,Missense_F654L rs6429491 1 244750094 [A/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE Silent,Silent,Silent rs7541784 1 244751029 [A/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE Silent,Silent,Silent exm164723 1 244755023 [A/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Missense_V727M,Missense_V576M,Missense_V727M exm164724 1 244756720 [C/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Missense_S738W,Missense_S587W,Missense_S738W exm164734 1 244773590 [A/C] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Missense_N818H,Missense_N667H,Missense_N818H rs10803228 1 244777718 [A/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE Silent,Silent,Silent rs10465638 1 244785995 [A/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE Silent,Silent,Silent rs6688788 1 244801873 [A/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE Silent,Silent,Silent rs6676542 1 244802142 [T/C] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE Silent,Silent,Silent rs10754842 1 244802705 [T/C] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE Silent,Silent,Silent exm164738 1 244803264 [A/G] NM_173807,NM_001242340,NM_001130957 CATSPERE,CATSPERE,CATSPERE EXON Silent,Missense_V762I,Missense_V913I rs2653142 1 244809396 [A/G] rs987179 1 244809936 [A/G] rs12404604 1 244829280 [A/G] NR_123736,NM_001297746,NR_123735,NM_016076 DESI2,DESI2,DESI2,DESI2 Silent,Silent,Silent,Silent variant.11077 1 244849976 [A/G] NR_123736,NM_001297746,NR_123735,NM_016076 DESI2,DESI2,DESI2,DESI2 Silent,Silent,Silent,Silent rs11589363 1 244858017 [T/C] NR_123736,NM_001297746,NR_123735,NM_016076 DESI2,DESI2,DESI2,DESI2 Silent,Silent,Silent,Silent exm164756 1 244869074 [T/C] NR_123736,NM_001297746,NR_123735,NM_016076 DESI2,DESI2,DESI2,DESI2 EXON Silent,Missense_R157C,Silent,Missense_R190C rs2242448 1 244869479 [A/G] NR_123736,NM_001297746,NR_123735,NM_016076 DESI2,DESI2,DESI2,DESI2 EXON Silent,Silent,Silent,Silent rs10927298 1 244873684 [T/C] rs6695943 1 244877955 [T/C] rs10927306 1 244885285 [A/G] rs6429500 1 244886134 [A/C] exm2263855 1 244894273 [A/C] rs6699271 1 244902468 [A/G] rs6663759 1 244909440 [A/G] rs7534801 1 244916619 [A/G] rs2134271 1 244920820 [A/G] rs2365958 1 244921530 [T/C] rs6697884 1 244921577 [A/G] rs4658662 1 244922115 [A/G] rs6685285 1 244949890 [T/C] rs9662967 1 244957186 [T/C] exm-rs9724895 1 244958013 [T/C] rs2365687 1 244965588 [T/C] exm2260070 1 244980554 [A/G] rs10927330 1 244997953 [A/G] indel.11078 1 245005241 [D/I] NM_001312871,NM_198076,NM_001312872,NR_132419,NR_132421,NM_001312874,NR_132420,NM_001312873 COX20,COX20,COX20,COX20,COX20,COX20,COX20,COX20 exm164771 1 245005544 [A/G] NM_001312871,NM_198076,NM_001312872,NR_132419,NR_132421,NM_001312874,NR_132420,NM_001312873 COX20,COX20,COX20,COX20,COX20,COX20,COX20,COX20 EXON Missense_V69M,Missense_V69M,Missense_V81M,Silent,Silent,Silent,Silent,Missense_V24M rs12095737 1 245005713 [A/C] NM_001312871,NM_198076,NM_001312872,NR_132419,NR_132421,NM_001312874,NR_132420,NM_001312873 COX20,COX20,COX20,COX20,COX20,COX20,COX20,COX20 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm164781 1 245006461 [A/G] NM_001312871,NM_198076,NM_001312872,NR_132419,NR_132421,NM_001312874,NR_132420,NM_001312873 COX20,COX20,COX20,COX20,COX20,COX20,COX20,COX20 EXON Missense_G114S,Missense_G114S,Missense_G126S,Silent,Silent,Silent,Silent,Missense_G69S exm164783 1 245006474 [A/G] NM_001312871,NM_198076,NM_001312872,NR_132419,NR_132421,NM_001312874,NR_132420,NM_001312873 COX20,COX20,COX20,COX20,COX20,COX20,COX20,COX20 EXON Missense_N118S,Missense_N118S,Missense_N130S,Silent,Silent,Silent,Silent,Missense_N73S exm164792 1 245018909 [A/G] NM_004501,NM_031844 HNRNPU,HNRNPU EXON Synonymous_A704A,Synonymous_A723A exm164794 1 245019207 [T/G] NM_004501,NM_031844 HNRNPU,HNRNPU EXON Synonymous_G703G,Synonymous_G722G exm2232921 1 245019421 [T/G] NM_004501,NM_031844 HNRNPU,HNRNPU EXON Missense_E632A,Missense_E651A exm164809 1 245021347 [C/G] NM_004501,NM_031844 HNRNPU,HNRNPU EXON Missense_G468A,Missense_G487A exm164815 1 245022045 [T/C] NM_004501,NM_031844 HNRNPU,HNRNPU EXON Missense_I387V,Missense_I406V exm164827 1 245022613 [T/C] NM_004501,NM_031844 HNRNPU,HNRNPU EXON Missense_I342V,Missense_I361V var_1_245025920 1 245025920 [A/C] NM_004501,NM_031844 HNRNPU,HNRNPU Silent,Silent exm164865 1 245027527 [T/C] NM_004501,NM_031844 HNRNPU,HNRNPU EXON Missense_K28R,Missense_K28R rs4658673 1 245042312 [A/G] rs12566094 1 245051886 [A/G] rs2172955 1 245084254 [A/G] rs1979569 1 245089333 [T/C] rs10927348 1 245099878 [T/G] rs6676378 1 245102866 [T/C] rs7524543 1 245116281 [T/C] rs7540416 1 245121226 [T/C] rs6700087 1 245130641 [T/G] NR_111907 LOC101928068 EXON Silent exm1771930 1 245133746 [A/G] NR_111907,NM_032328,NR_026587,NM_001143943,NM_001290327 LOC101928068,EFCAB2,EFCAB2,EFCAB2,EFCAB2 Silent,Silent,Silent,Silent,Silent rs4658680 1 245142256 [A/G] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 Silent,Silent,Silent,Silent rs1021282 1 245144712 [A/G] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 Silent,Silent,Silent,Silent rs4658683 1 245156511 [A/G] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 Silent,Silent,Silent,Silent rs10803251 1 245173460 [A/G] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 Silent,Silent,Silent,Silent rs1196366 1 245179188 [T/G] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 Silent,Silent,Silent,Silent rs10927369 1 245179960 [A/G] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 Silent,Silent,Silent,Silent exm164889 1 245180555 [A/G] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 EXON Missense_A13T,Silent,Missense_A13T,Missense_A23T indel.11085 1 245180576 [I/D] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 EXON rs493092 1 245190615 [A/G] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 Silent,Silent,Silent,Silent rs600025 1 245191095 [A/C] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 Silent,Silent,Silent,Silent rs586013 1 245191893 [T/C] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 Silent,Silent,Silent,Silent rs7532293 1 245194386 [T/C] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 Silent,Silent,Silent,Silent rs12728471 1 245205890 [T/C] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 Silent,Silent,Silent,Silent rs611185 1 245219054 [A/G] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 Silent,Silent,Silent,Silent variant.11086 1 245222686 [A/G] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 Silent,Silent,Silent,Silent exm2250961 1 245222730 [A/G] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 EXON Synonymous_T51T,Silent,Synonymous_T51T,Synonymous_T61T rs6692143 1 245228886 [A/G] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 Silent,Silent,Silent,Silent exm164901 1 245245434 [T/C] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 EXON Missense_P78L,Silent,Missense_P78L,Missense_P88L exm164904 1 245246776 [A/G] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 EXON Missense_R99Q,Silent,Missense_R99Q,Missense_R109Q exm164909 1 245250548 [T/C] NM_032328,NR_026587,NM_001143943,NM_001290327 EFCAB2,EFCAB2,EFCAB2,EFCAB2 EXON Synonymous_G125G,Silent,Silent,Synonymous_G135G rs5015334 1 245273390 [T/C] NR_026587,NM_001143943 EFCAB2,EFCAB2 Silent,Silent rs7538816 1 245276494 [T/C] NR_026587,NM_001143943 EFCAB2,EFCAB2 Silent,Silent rs997662 1 245276793 [T/C] NR_026587,NM_001143943 EFCAB2,EFCAB2 Silent,Silent rs7531729 1 245281678 [T/G] NR_026587,NM_001143943 EFCAB2,EFCAB2 Silent,Silent rs6672147 1 245288493 [A/G] NR_026587,NM_001143943 EFCAB2,EFCAB2 EXON Silent,Silent rs4658702 1 245290111 [A/G] rs4658437 1 245312162 [A/G] exm2250962 1 245312295 [A/G] rs6676019 1 245316219 [A/G] rs12039117 1 245328085 [A/G] NM_018012 KIF26B Silent rs6668478 1 245341153 [T/C] NM_018012 KIF26B Silent rs6701995 1 245341997 [T/G] NM_018012 KIF26B Silent rs6665908 1 245349984 [A/C] NM_018012 KIF26B Silent rs7537950 1 245350885 [T/G] NM_018012 KIF26B Silent rs4658446 1 245352307 [A/G] NM_018012 KIF26B Silent rs6671796 1 245358619 [A/G] NM_018012 KIF26B Silent rs6684360 1 245367534 [T/C] NM_018012 KIF26B Silent rs12129648 1 245371492 [A/G] NM_018012,NR_151721 KIF26B,KIF26B-AS1 Silent,Silent rs4497254 1 245382117 [A/C] NM_018012,NR_151721 KIF26B,KIF26B-AS1 Silent,Silent rs10924125 1 245388149 [T/C] NM_018012,NR_151721 KIF26B,KIF26B-AS1 Silent,Silent rs2941285 1 245403490 [A/G] NM_018012 KIF26B Silent rs3008474 1 245407943 [A/G] NM_018012 KIF26B Silent rs6692147 1 245417562 [A/G] NM_018012 KIF26B Silent rs907015 1 245419312 [A/G] NM_018012 KIF26B Silent rs12075902 1 245419426 [T/C] NM_018012 KIF26B Silent rs6677893 1 245419947 [A/G] NM_018012 KIF26B Silent rs6428906 1 245422577 [T/C] NM_018012 KIF26B Silent rs7524902 1 245423334 [T/C] NM_018012 KIF26B Silent rs7513602 1 245431939 [A/G] NM_018012 KIF26B Silent rs6428910 1 245446721 [T/C] NM_018012 KIF26B Silent rs4658739 1 245447738 [T/C] NM_018012 KIF26B Silent rs7528364 1 245448886 [T/C] NM_018012 KIF26B Silent rs12084148 1 245456075 [T/C] NM_018012 KIF26B Silent rs6665809 1 245462248 [T/C] NM_018012 KIF26B Silent rs12120571 1 245470001 [T/C] NM_018012 KIF26B Silent rs907014 1 245474078 [T/C] NM_018012 KIF26B Silent rs6428914 1 245486835 [A/C] NM_018012 KIF26B Silent exm-rs10924173 1 245490640 [A/G] NM_018012 KIF26B Silent rs11803433 1 245498162 [A/G] NM_018012 KIF26B Silent rs12072874 1 245511851 [A/G] NM_018012 KIF26B Silent rs4256853 1 245520118 [T/C] NM_018012 KIF26B Silent exm164932 1 245530282 [A/G] NM_018012 KIF26B EXON Synonymous_T204T exm2250963 1 245530282 [A/G] NM_018012 KIF26B EXON Synonymous_T204T exm164953 1 245530500 [T/C] NM_018012 KIF26B EXON Missense_A277V exm164957 1 245530583 [A/C] NM_018012 KIF26B EXON Missense_N305H rs1173842 1 245535862 [A/G] NM_018012 KIF26B Silent rs551022 1 245537353 [A/C] NM_018012 KIF26B Silent rs819896 1 245543358 [T/C] NM_018012 KIF26B Silent rs1173663 1 245550394 [A/G] NM_018012 KIF26B Silent rs3914103 1 245551791 [A/G] NM_018012 KIF26B Silent rs819876 1 245555664 [A/G] NM_018012 KIF26B Silent rs1173837 1 245557294 [A/C] NM_018012 KIF26B Silent rs11579379 1 245560145 [A/G] NM_018012 KIF26B Silent rs7545405 1 245563382 [A/G] NM_018012 KIF26B Silent rs4658769 1 245572481 [A/G] NM_018012 KIF26B Silent rs676292 1 245572552 [A/G] NM_018012 KIF26B Silent rs1173645 1 245575250 [A/G] NM_018012 KIF26B Silent rs1093962 1 245576050 [T/C] NM_018012 KIF26B Silent rs6701279 1 245578185 [T/C] NM_018012 KIF26B Silent rs1111813 1 245582111 [A/G] NM_018012 KIF26B Silent rs1773825 1 245586529 [T/G] NM_018012 KIF26B Silent rs12094249 1 245612896 [A/G] NM_018012 KIF26B Silent rs1126065 1 245613630 [A/G] NM_018012 KIF26B Silent rs1093932 1 245626278 [T/C] NM_018012 KIF26B Silent rs10737772 1 245640567 [T/G] NM_018012 KIF26B Silent rs6687098 1 245641147 [A/G] NM_018012 KIF26B Silent rs1538471 1 245642219 [T/C] NM_018012 KIF26B Silent rs7523252 1 245647726 [A/G] NM_018012 KIF26B Silent rs6428926 1 245668132 [A/G] NM_018012 KIF26B Silent exm2250966 1 245703284 [T/C] NM_018012 KIF26B Silent rs12133360 1 245711056 [A/G] NM_018012 KIF26B Silent rs10802220 1 245711179 [T/C] NM_018012 KIF26B Silent rs947106 1 245717009 [A/G] NM_018012 KIF26B Silent rs1621632 1 245717698 [A/G] NM_018012 KIF26B Silent rs1771497 1 245723588 [A/G] NM_018012 KIF26B Silent rs10924243 1 245727474 [A/G] NM_018012 KIF26B Silent rs1715778 1 245727532 [T/C] NM_018012 KIF26B Silent rs1771492 1 245728083 [T/C] NM_018012 KIF26B Silent rs7556045 1 245739589 [A/C] NM_018012 KIF26B Silent rs1620343 1 245745337 [A/G] NM_018012 KIF26B Silent rs1572893 1 245762525 [A/G] NM_018012 KIF26B Silent exm165000 1 245766015 [A/G] NM_018012 KIF26B EXON Missense_Q496R variant.11089 1 245766085 [A/G] NM_018012 KIF26B EXON Synonymous_Q519Q rs947103 1 245766651 [A/G] NM_018012 KIF26B Silent rs12406586 1 245767748 [T/C] NM_018012 KIF26B Silent exm165012 1 245772651 [G/C] NM_018012 KIF26B EXON Missense_L579V exm165014 1 245772663 [T/C] NM_018012 KIF26B EXON Missense_R583C exm165015 1 245772678 [A/G] NM_018012 KIF26B EXON Missense_G588S exm165026 1 245772826 [T/C] NM_018012 KIF26B EXON Missense_T637M rs12041565 1 245773041 [T/C] NM_018012 KIF26B Silent rs1771523 1 245773223 [T/C] NM_018012 KIF26B Silent rs10754458 1 245774993 [A/G] NM_018012 KIF26B Silent exm165029 1 245775183 [A/G] NM_018012 KIF26B EXON Missense_Q668R exm165035 1 245775210 [A/G] NM_018012 KIF26B EXON Missense_R677H exm165037 1 245775252 [A/G] NM_018012 KIF26B EXON Missense_R691Q rs1715789 1 245779716 [A/G] NM_018012 KIF26B Silent rs11582843 1 245780760 [T/C] NM_018012 KIF26B Silent rs10754459 1 245785508 [T/C] NM_018012 KIF26B Silent rs1715815 1 245790762 [A/G] NM_018012 KIF26B Silent exm-rs10924270 1 245804664 [A/G] NM_018012 KIF26B Silent rs6663144 1 245807983 [T/C] NM_018012 KIF26B Silent exm165044 1 245809479 [G/C] NM_018012 KIF26B EXON Missense_L719V exm165050 1 245809554 [A/G] NM_018012 KIF26B EXON Missense_V744I rs6701020 1 245813813 [A/C] NM_018012 KIF26B Silent rs6682995 1 245819198 [T/C] NM_018012 KIF26B Silent rs12746314 1 245819228 [A/G] NM_018012 KIF26B Silent rs1538961 1 245826977 [T/C] NM_018012 KIF26B Silent rs6674082 1 245837801 [A/G] NM_018012 KIF26B Silent rs2282381 1 245840409 [A/C] NM_018012 KIF26B Silent exm165055 1 245847617 [A/G] NM_018012 KIF26B EXON Missense_A781T exm165066 1 245847693 [T/C] NM_018012 KIF26B EXON Missense_T806M exm165073 1 245848798 [T/C] NM_018012 KIF26B EXON Missense_T838M exm165079 1 245848878 [A/G] NM_018012 KIF26B EXON Missense_V865I exm165085 1 245848996 [A/G] NM_018012 KIF26B EXON Missense_R904Q exm165093 1 245849191 [T/C] NM_018012 KIF26B EXON Missense_A969V exm165109 1 245849404 [A/G] NM_018012 KIF26B EXON Missense_S1040N exm165112 1 245849472 [A/G] NM_018012 KIF26B EXON Missense_M1063V exm2250967 1 245849483 [G/C] NM_018012 KIF26B EXON Synonymous_P1066P exm2263380 1 245849589 [A/G] NM_018012 KIF26B EXON Missense_A1102T exm165121 1 245849622 [A/G] NM_018012 KIF26B EXON Missense_V1113M exm2232928 1 245849638 [A/C] NM_018012 KIF26B EXON Missense_S1118Y exm165128 1 245849697 [A/C] NM_018012 KIF26B EXON Missense_K1138Q exm165131 1 245849729 [A/G] NM_018012 KIF26B EXON Synonymous_P1148P exm2250968 1 245849729 [A/G] NM_018012 KIF26B EXON Synonymous_P1148P exm165133 1 245849742 [A/G] NM_018012 KIF26B EXON Missense_D1153N exm165134 1 245849809 [T/C] NM_018012 KIF26B EXON Missense_T1175M exm165136 1 245849816 [C/G] NM_018012 KIF26B EXON Missense_Q1177H exm165138 1 245849835 [A/G] NM_018012 KIF26B EXON Missense_G1184S exm165140 1 245849857 [T/C] NM_018012 KIF26B EXON Missense_T1191M exm165144 1 245849938 [T/C] NM_018012 KIF26B EXON Missense_S1218F exm165147 1 245850019 [T/C] NM_018012 KIF26B EXON Missense_T1245M exm165153 1 245850108 [T/C] NM_018012 KIF26B EXON Missense_R1275C exm165155 1 245850145 [T/C] NM_018012 KIF26B EXON Missense_A1287V exm165157 1 245850166 [T/C] NM_018012 KIF26B EXON Missense_S1294L exm165160 1 245850190 [T/C] NM_018012 KIF26B EXON Missense_T1302M exm165163 1 245850303 [T/G] NM_018012 KIF26B EXON Missense_L1340V exm165166 1 245850369 [A/G] NM_018012 KIF26B EXON Missense_I1362V exm165170 1 245850495 [A/G] NM_018012 KIF26B EXON Missense_I1404V exm165172 1 245850513 [G/C] NM_018012 KIF26B EXON Missense_P1410A exm165175 1 245850610 [T/G] NM_018012 KIF26B EXON Missense_L1442R exm2250969 1 245850956 [T/C] NM_018012 KIF26B EXON Synonymous_C1557C exm165192 1 245850988 [T/C] NM_018012 KIF26B EXON Missense_S1568L exm165218 1 245851609 [G/C] NM_018012 KIF26B EXON Missense_P1775R rs3766648 1 245852388 [T/C] NM_018012 KIF26B Silent rs10802248 1 245858554 [A/C] NM_018012 KIF26B Silent exm165237 1 245861512 [T/C] NM_018012 KIF26B EXON Missense_R1977W exm1772143 1 245861513 [A/G] NM_018012 KIF26B EXON Missense_R1977Q exm165238 1 245861522 [T/C] NM_018012 KIF26B EXON Missense_P1980L exm1772147 1 245862232 [A/G] NM_018012 KIF26B EXON Missense_R2024H exm165249 1 245862249 [A/G] NM_018012 KIF26B EXON Missense_E2030K exm165254 1 245862292 [T/C] NM_018012 KIF26B EXON Missense_A2044V exm165261 1 245865900 [T/C] NM_018012 KIF26B EXON Missense_R2107C rs3737918 1 245866511 [T/C] NM_018012 KIF26B EXON Silent rs7524184 1 245882414 [A/C] rs10802251 1 245884152 [T/C] rs10802264 1 245904087 [T/C] rs10802265 1 245904391 [A/G] rs2791362 1 245911746 [T/C] exm165265 1 245912881 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 EXON Missense_N365S,Missense_N424S rs2362932 1 245914284 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs2791372 1 245920863 [T/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs12045474 1 245924864 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs12567813 1 245939067 [A/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs2262933 1 245944439 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs2791384 1 245953416 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs2791399 1 245966242 [T/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs2817501 1 245969638 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs10802268 1 245977467 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs12031535 1 245979357 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs12030297 1 245986815 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs6700401 1 245989865 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs4654127 1 245992363 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs11808632 1 245994872 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs2153409 1 245995920 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs10754474 1 245996629 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs1316491 1 245999838 [T/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs12038930 1 246000684 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs12088171 1 246001034 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs10924351 1 246002203 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs12137129 1 246003615 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs9660719 1 246003671 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs10924361 1 246014333 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent exm2276901 1 246021875 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 EXON Synonymous_C274C,Synonymous_C333C rs4654062 1 246042392 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs9287193 1 246047468 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent exm2268988 1 246078476 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs4654168 1 246078476 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent exm165285 1 246078851 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 EXON Missense_R206H,Missense_R265H exm165297 1 246091276 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 EXON Missense_H161R,Missense_H220R rs956706 1 246097156 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs7355113 1 246097984 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs10802300 1 246110573 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs12137320 1 246116352 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs1544150 1 246125374 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs10924414 1 246128858 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs2066028 1 246130872 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs1538294 1 246146328 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs10802309 1 246153941 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs10802315 1 246158895 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs4654186 1 246168017 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs946145 1 246170087 [A/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs11586168 1 246178188 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs7547858 1 246181070 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent exm2263856 1 246182293 [A/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs9660598 1 246204285 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs4396095 1 246213270 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs6693295 1 246223120 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs4445429 1 246226566 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs6426271 1 246228225 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs2788014 1 246242855 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs2788015 1 246242908 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs10924497 1 246243336 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs2787991 1 246251363 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs2885258 1 246264809 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs12084046 1 246278250 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs7553693 1 246280508 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs12031436 1 246289111 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs4654210 1 246290120 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs10924512 1 246292470 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs7551290 1 246303128 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs3845512 1 246308279 [T/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs4607842 1 246313723 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs12562155 1 246330385 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs7531193 1 246341231 [T/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs6680215 1 246347153 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs12128836 1 246349328 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs10924537 1 246355668 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs12406327 1 246364256 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs12079361 1 246364811 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs4607841 1 246373295 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs7340039 1 246374869 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs11585648 1 246375856 [T/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs2878079 1 246390090 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs4548405 1 246393283 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs1361409 1 246410112 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs10924625 1 246414404 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs12404422 1 246441421 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs10754506 1 246443337 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs1148716 1 246465955 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs10924688 1 246479095 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs10924690 1 246483783 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs6659024 1 246495633 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent exm165320 1 246518362 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 EXON Missense_V8I,Missense_V67I rs10802397 1 246534452 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs1339965 1 246550861 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs960227 1 246557566 [T/C] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs12082021 1 246577853 [A/G] NM_022743,NM_001167740 SMYD3,SMYD3 Silent,Silent rs6673291 1 246580718 [A/G] NM_001167740 SMYD3 Silent rs11800474 1 246590002 [T/C] NM_001167740 SMYD3 Silent rs1890802 1 246592913 [T/C] NM_001167740 SMYD3 Silent rs2340780 1 246606143 [T/C] NM_001167740 SMYD3 Silent rs11802785 1 246618280 [A/C] NM_001167740 SMYD3 Silent rs7550853 1 246618945 [A/C] NM_001167740 SMYD3 Silent rs4654261 1 246622814 [T/C] NM_001167740 SMYD3 Silent rs10924739 1 246632947 [A/G] NM_001167740 SMYD3 Silent rs10802412 1 246645797 [A/G] NM_001167740 SMYD3 Silent rs6690167 1 246651651 [A/C] NM_001167740 SMYD3 Silent rs10802415 1 246665393 [T/C] NM_001167740 SMYD3 Silent rs10924756 1 246666882 [A/G] NM_001167740 SMYD3 Silent rs10218665 1 246667303 [T/C] NM_001167740 SMYD3 Silent rs4654117 1 246668230 [A/G] NM_001167740 SMYD3 Silent rs4654274 1 246668544 [A/G] NM_001167740 SMYD3 Silent exm165329 1 246670481 [G/C] NM_001167740 SMYD3 EXON Missense_K13N rs10924763 1 246681116 [A/G] NR_040002 LINC01743 Silent rs4654279 1 246686111 [T/C] NR_040002 LINC01743 Silent rs3129586 1 246687586 [T/C] NR_040002 LINC01743 EXON Silent rs10924771 1 246694480 [A/G] exm2273761 1 246704454 [T/A] NM_022366 TFB2M EXON Missense_Q357L exm165337 1 246704470 [T/C] NM_022366 TFB2M EXON Missense_M352V exm165338 1 246704481 [T/C] NM_022366 TFB2M EXON Missense_R348K exm165340 1 246704502 [T/G] NM_022366 TFB2M EXON Nonsense_S341X rs3129567 1 246705277 [A/G] NM_022366 TFB2M Silent exm165344 1 246707823 [T/C] NM_022366 TFB2M EXON Missense_R340H exm165353 1 246711849 [T/C] NM_022366 TFB2M EXON Missense_R286G exm165358 1 246714520 [A/G] NM_022366 TFB2M EXON Missense_H264Y rs4654291 1 246716604 [T/C] NM_022366 TFB2M Silent rs7536768 1 246718977 [A/G] NM_022366 TFB2M Silent exm165368 1 246719916 [A/G] NM_022366 TFB2M EXON Nonsense_R222X indel.11096 1 246719973 [D/I] NM_022366 TFB2M EXON exm1772435 1 246727700 [T/C] NM_022366 TFB2M EXON Missense_G117D exm165386 1 246729173 [T/C] NM_022366 TFB2M EXON Missense_G90R exm165387 1 246729178 [T/C] NM_022366 TFB2M EXON Missense_Y88C exm165388 1 246729251 [T/C] NM_022366 TFB2M EXON Missense_A64T exm165391 1 246729298 [A/G] NM_022366 TFB2M EXON Missense_S48F exm165393 1 246729356 [T/C] NM_022366 TFB2M EXON Missense_E29K exm165395 1 246729395 [A/C] NM_022366 TFB2M EXON Missense_A16S rs12062784 1 246733870 [A/C] NM_152609,NM_001139459 CNST,CNST Silent,Silent exm165406 1 246754947 [A/G] NM_152609,NM_001139459 CNST,CNST EXON Missense_S28N,Missense_S28N exm165407 1 246754956 [A/G] NM_152609,NM_001139459 CNST,CNST EXON Missense_C31Y,Missense_C31Y exm165415 1 246755124 [T/C] NM_152609,NM_001139459 CNST,CNST EXON Missense_L87S,Missense_L87S exm165419 1 246755204 [T/C] NM_152609,NM_001139459 CNST,CNST EXON Missense_P114S,Missense_P114S rs3124075 1 246780619 [T/C] NM_152609,NM_001139459 CNST,CNST Silent,Silent exm165430 1 246784899 [A/G] NM_152609,NM_001139459 CNST,CNST EXON Missense_Q183R,Missense_Q183R variant.11097 1 246784941 [T/G] NM_152609,NM_001139459 CNST,CNST Silent,Silent rs7518651 1 246793880 [A/G] NM_152609,NM_001139459 CNST,CNST Silent,Silent exm165444 1 246797823 [A/G] NM_152609,NM_001139459 CNST,CNST EXON Missense_N251S,Missense_N251S exm165451 1 246805265 [A/G] NM_152609,NM_001139459 CNST,CNST EXON Missense_Q288R,Missense_Q288R exm165455 1 246805306 [C/G] NM_152609,NM_001139459 CNST,CNST EXON Missense_P302A,Missense_P302A variant.11098 1 246805344 [A/G] NM_152609,NM_001139459 CNST,CNST Silent,Silent exm165457 1 246810459 [T/G] NM_152609,NM_001139459 CNST,CNST EXON Missense_G319V,Missense_G319V exm165458 1 246810488 [A/C] NM_152609,NM_001139459 CNST,CNST EXON Missense_T329P,Missense_T329P exm165468 1 246810698 [T/C] NM_152609,NM_001139459 CNST,CNST EXON Missense_R399C,Missense_R399C exm165472 1 246810819 [T/G] NM_152609,NM_001139459 CNST,CNST EXON Missense_C439F,Missense_C439F exm165480 1 246810869 [G/C] NM_152609,NM_001139459 CNST,CNST EXON Missense_Q456E,Missense_Q456E exm165482 1 246810884 [T/C] NM_152609,NM_001139459 CNST,CNST EXON Missense_R461C,Missense_R461C exm165501 1 246811190 [T/C] NM_152609,NM_001139459 CNST,CNST EXON Missense_L563F,Missense_L563F rs11802065 1 246811696 [A/G] NM_152609 CNST Silent rs7534740 1 246823857 [A/G] NM_152609 CNST Silent rs3795472 1 246829873 [A/G] NM_152609 CNST EXON Silent rs6683786 1 246840223 [A/G] rs4072061 1 246843315 [A/G] rs12045922 1 246844066 [T/C] rs10802432 1 246854862 [T/C] rs10802434 1 246859182 [T/G] rs7532928 1 246870293 [T/C] rs10802440 1 246874875 [T/C] rs6697433 1 246886265 [T/C] exm165517 1 246887744 [T/C] NM_016002 SCCPDH EXON Missense_P7L rs10754532 1 246888053 [A/G] NM_016002 SCCPDH Silent exm165522 1 246890239 [T/C] NM_016002 SCCPDH EXON Missense_I79T exm165525 1 246890268 [A/G] NM_016002 SCCPDH EXON Missense_A89T exm165528 1 246890298 [A/G] NM_016002 SCCPDH EXON Missense_V99I rs6657743 1 246893948 [T/C] NM_016002 SCCPDH Silent exm165533 1 246899321 [T/G] NM_016002 SCCPDH EXON Missense_N116K rs7513496 1 246907206 [T/G] NM_016002 SCCPDH Silent exm165537 1 246907377 [C/G] NM_016002 SCCPDH Silent exm165539 1 246907410 [A/G] NM_016002 SCCPDH EXON Missense_I183V exm165541 1 246921640 [T/G] NM_016002 SCCPDH EXON Missense_G226V exm165542 1 246922343 [A/G] NM_016002 SCCPDH EXON Missense_I235V exm1772534 1 246922355 [T/C] NM_016002 SCCPDH EXON Missense_R239W exm165543 1 246922356 [A/G] NM_016002 SCCPDH EXON Missense_R239Q exm165545 1 246922422 [A/G] NM_016002 SCCPDH EXON Missense_R261H indel.11102 1 246923325 [D/I] NM_016002 SCCPDH EXON rs10924820 1 246928540 [A/G] NM_016002 SCCPDH Silent exm165560 1 246929392 [A/G] NM_016002 SCCPDH EXON Missense_V379I exm165568 1 246930564 [G/C] NM_016002 SCCPDH EXON Missense_G418R rs6685364 1 246939943 [T/C] rs3795462 1 246940442 [T/C] rs6694274 1 246954166 [A/G] NR_015422 LINC01341 EXON Silent rs10924831 1 246954313 [A/G] NR_015422 LINC01341 EXON Silent rs7551836 1 246960463 [A/G] rs4926461 1 246961246 [T/G] rs3935607 1 246962909 [T/C] rs4926465 1 246968455 [A/G] rs11584835 1 246973094 [A/G] rs12038733 1 246988179 [T/C] exm2264978 1 246994906 [A/G] rs10924852 1 246994906 [A/G] exm165601 1 247006035 [A/G] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_A2190V,Silent,Missense_A2190V,Missense_A2199V exm165602 1 247006051 [G/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_L2185V,Silent,Missense_L2185V,Missense_L2194V rs12401878 1 247006314 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 Silent,Silent,Silent,Silent exm165605 1 247007113 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_K2170R,Silent,Missense_K2170R,Missense_K2179R rs7549408 1 247008439 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 Silent,Silent,Silent,Silent exm165610 1 247012919 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_K2130R,Silent,Missense_K2130R,Missense_K2139R exm165612 1 247012943 [A/G] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_A2122V,Silent,Missense_A2122V,Missense_A2131V exm165629 1 247013492 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_R1939K,Silent,Missense_R1939K,Missense_R1948K exm165631 1 247013543 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_D1922G,Silent,Missense_D1922G,Missense_D1931G exm165635 1 247013576 [A/G] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_L1911S,Silent,Missense_L1911S,Missense_L1920S exm2250980 1 247014064 [A/G] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Synonymous_N1748N,Silent,Synonymous_N1748N,Synonymous_N1757N exm165656 1 247014387 [T/A] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_L1641M,Silent,Missense_L1641M,Missense_L1650M exm165657 1 247014407 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_N1634S,Silent,Missense_N1634S,Missense_N1643S exm165659 1 247014423 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_S1629G,Silent,Missense_S1629G,Missense_S1638G exm165667 1 247014744 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_V1522M,Silent,Missense_V1522M,Missense_V1531M exm165677 1 247019061 [A/G] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_T1442I,Silent,Missense_T1442I,Missense_T1451I exm165681 1 247019101 [A/G] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_P1429S,Silent,Missense_P1429S,Missense_P1438S exm165683 1 247019123 [G/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_I1421M,Silent,Missense_I1421M,Missense_I1430M exm165701 1 247024561 [T/G] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_P1258T,Silent,Missense_P1258T,Missense_P1267T rs1691251 1 247027779 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 Silent,Silent,Silent,Silent exm165715 1 247030545 [A/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 Silent,Silent,Silent,Silent exm165716 1 247030547 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_R1116G,Silent,Missense_R1116G,Missense_R1125G exm165720 1 247030981 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_S1074N,Silent,Missense_S1074N,Missense_S1083N exm165727 1 247039473 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_R985H,Silent,Missense_R985H,Missense_R994H exm165730 1 247040261 [A/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_I976M,Silent,Missense_I976M,Missense_I985M exm165749 1 247050575 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_I804V,Silent,Missense_I804V,Missense_I813V exm165752 1 247051481 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_I775V,Silent,Missense_I775V,Missense_I784V exm165758 1 247053277 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_R712H,Silent,Missense_R712H,Missense_R721H exm165759 1 247053295 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_R706H,Silent,Missense_R706H,Missense_R715H exm165763 1 247053355 [G/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_S686C,Silent,Missense_S686C,Missense_S695C exm165767 1 247054333 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_V659I,Silent,Missense_V659I,Missense_V668I newrs115920770 1 247055076 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 Silent,Silent,Silent,Silent rs1691255 1 247065472 [A/G] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 Silent,Silent,Silent,Silent exm2232940 1 247065938 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_T336A,Silent,Missense_T336A,Missense_T345A exm165803 1 247067325 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_V298I,Silent,Missense_V298I,Missense_V307I rs7529090 1 247069232 [A/G] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 Silent,Silent,Silent,Silent rs1691243 1 247069514 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 Silent,Silent,Silent,Silent exm2275556 1 247070889 [T/C] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 EXON Missense_Y243C,Silent,Missense_Y243C,Missense_Y252C rs10924867 1 247084953 [A/G] NM_001323342,NR_136586,NM_001323343,NM_015446 AHCTF1,AHCTF1,AHCTF1,AHCTF1 Silent,Silent,Silent,Silent rs4971278 1 247098587 [T/C] rs6426191 1 247109168 [A/G] NR_037892,NM_001204221,NR_037894 ZNF695,ZNF695,ZNF670-ZNF695 Silent,Silent,Silent rs1779962 1 247111062 [T/C] NR_037892,NM_001204221,NR_037894 ZNF695,ZNF695,ZNF670-ZNF695 Silent,Silent,Silent rs1691246 1 247112320 [A/G] NR_037892,NM_001204221,NR_037894 ZNF695,ZNF695,ZNF670-ZNF695 Silent,Silent,Silent rs1779985 1 247129945 [A/G] NR_037892,NM_001204221,NR_037894 ZNF695,ZNF695,ZNF670-ZNF695 Silent,Silent,Silent rs4971282 1 247130577 [A/C] NR_037892,NM_001204221,NR_037894 ZNF695,ZNF695,ZNF670-ZNF695 Silent,Silent,Silent exm165831 1 247150582 [T/C] NR_037892,NM_001204221,NR_037894,NM_020394 ZNF695,ZNF695,ZNF670-ZNF695,ZNF695 EXON Silent,Silent,Silent,Missense_E412G variant.11105 1 247150645 [T/C] NR_037892,NM_001204221,NR_037894,NM_020394 ZNF695,ZNF695,ZNF670-ZNF695,ZNF695 EXON Silent,Silent,Silent,Nonsense_W391X exm165840 1 247150739 [T/C] NR_037892,NM_001204221,NR_037894,NM_020394 ZNF695,ZNF695,ZNF670-ZNF695,ZNF695 EXON Silent,Silent,Silent,Missense_A360T rs3749427 1 247150740 [T/C] NR_037892,NM_001204221,NR_037894,NM_020394 ZNF695,ZNF695,ZNF670-ZNF695,ZNF695 EXON Silent,Silent,Silent,Synonymous_K359K variant.11106 1 247150760 [A/G] NR_037892,NM_001204221,NR_037894,NM_020394 ZNF695,ZNF695,ZNF670-ZNF695,ZNF695 EXON Silent,Silent,Silent,Nonsense_R353X var_1_247150811 1 247150812 [D/I] NR_037892,NM_001204221,NR_037894,NM_020394 ZNF695,ZNF695,ZNF670-ZNF695,ZNF695 EXON exm165845 1 247151014 [T/G] NR_037892,NM_001204221,NR_037894,NM_020394 ZNF695,ZNF695,ZNF670-ZNF695,ZNF695 EXON Silent,Silent,Silent,Missense_Y268S exm165846 1 247151035 [T/G] NR_037892,NM_001204221,NR_037894,NM_020394 ZNF695,ZNF695,ZNF670-ZNF695,ZNF695 EXON Silent,Silent,Silent,Missense_N261T exm165853 1 247151236 [G/C] NR_037892,NM_001204221,NR_037894,NM_020394 ZNF695,ZNF695,ZNF670-ZNF695,ZNF695 EXON Silent,Silent,Silent,Missense_C194S exm165854 1 247151257 [T/C] NR_037892,NM_001204221,NR_037894,NM_020394 ZNF695,ZNF695,ZNF670-ZNF695,ZNF695 EXON Silent,Silent,Silent,Missense_K187R variant.11109 1 247151423 [T/C] NR_037892,NM_001204221,NR_037894,NM_020394 ZNF695,ZNF695,ZNF670-ZNF695,ZNF695 EXON Silent,Silent,Silent,Missense_G132S exm165863 1 247151467 [T/C] NR_037892,NM_001204221,NR_037894,NM_020394 ZNF695,ZNF695,ZNF670-ZNF695,ZNF695 EXON Silent,Missense_C117Y,Silent,Missense_C117Y exm165864 1 247151487 [T/C] NR_037892,NM_001204221,NR_037894,NM_020394 ZNF695,ZNF695,ZNF670-ZNF695,ZNF695 EXON Silent,Missense_M110I,Silent,Missense_M110I exm165867 1 247151557 [A/G] NR_037892,NM_001204221,NR_037894,NM_020394 ZNF695,ZNF695,ZNF670-ZNF695,ZNF695 EXON Silent,Missense_V87A,Silent,Missense_V87A exm165868 1 247162653 [A/G] NR_037892,NM_001204221,NR_037894,NM_020394 ZNF695,ZNF695,ZNF670-ZNF695,ZNF695 EXON Silent,Missense_S86P,Silent,Missense_S86P exm165869 1 247162658 [T/C] NR_037892,NM_001204221,NR_037894,NM_020394 ZNF695,ZNF695,ZNF670-ZNF695,ZNF695 EXON Silent,Missense_R84K,Silent,Missense_R84K exm165870 1 247162734 [T/C] NR_037892,NM_001204221,NR_037894,NM_020394 ZNF695,ZNF695,ZNF670-ZNF695,ZNF695 EXON Silent,Missense_M59V,Silent,Missense_M59V variant.11112 1 247163307 [A/G] NR_037892,NM_001204221,NR_037894,NM_020394 ZNF695,ZNF695,ZNF670-ZNF695,ZNF695 EXON Silent,Nonsense_Q25X,Silent,Nonsense_Q25X rs2453407 1 247172257 [T/C] NR_037894 ZNF670-ZNF695 Silent rs12091227 1 247173682 [T/C] NR_037894 ZNF670-ZNF695 Silent rs28540229 1 247179076 [A/G] NR_037894 ZNF670-ZNF695 Silent rs2255481 1 247196539 [T/C] NR_037894 ZNF670-ZNF695 Silent rs12141826 1 247200639 [T/C] NR_037894,NM_033213,NM_001204220 ZNF670-ZNF695,ZNF670,ZNF670 EXON Silent,Silent,Silent exm165887 1 247200759 [T/C] NR_037894,NM_033213,NM_001204220 ZNF670-ZNF695,ZNF670,ZNF670 EXON Silent,Missense_M388V,Missense_M387V exm165907 1 247201284 [A/G] NR_037894,NM_033213,NM_001204220 ZNF670-ZNF695,ZNF670,ZNF670 EXON Silent,Missense_R213C,Missense_R212C exm165922 1 247201537 [T/G] NR_037894,NM_033213,NM_001204220 ZNF670-ZNF695,ZNF670,ZNF670 EXON Silent,Missense_N128K,Missense_N127K exm165924 1 247201569 [T/G] NR_037894,NM_033213,NM_001204220 ZNF670-ZNF695,ZNF670,ZNF670 EXON Silent,Missense_L118I,Missense_L117I exm165926 1 247201584 [T/C] NR_037894,NM_033213,NM_001204220 ZNF670-ZNF695,ZNF670,ZNF670 EXON Silent,Missense_I113V,Missense_I112V exm165933 1 247201727 [C/G] NR_037894,NM_033213,NM_001204220 ZNF670-ZNF695,ZNF670,ZNF670 EXON Silent,Missense_S65T,Silent variant.11116 1 247202800 [A/G] NR_037894,NM_033213,NM_001204220 ZNF670-ZNF695,ZNF670,ZNF670 EXON Silent,Nonsense_Q15X,Nonsense_Q15X rs7547915 1 247203606 [T/C] NR_037894,NM_033213,NM_001204220 ZNF670-ZNF695,ZNF670,ZNF670 Silent,Silent,Silent rs4925612 1 247236374 [A/C] NR_037894,NM_033213,NM_001204220 ZNF670-ZNF695,ZNF670,ZNF670 Silent,Silent,Silent rs4925614 1 247236563 [T/C] NR_037894,NM_033213,NM_001204220 ZNF670-ZNF695,ZNF670,ZNF670 Silent,Silent,Silent rs6701757 1 247241668 [A/G] NR_037894,NM_033213,NM_001204220 ZNF670-ZNF695,ZNF670,ZNF670 Silent,Silent,Silent rs12141797 1 247250589 [A/C] rs12144733 1 247252836 [T/C] rs6426218 1 247259571 [A/G] exm2265098 1 247259684 [A/G] rs6699898 1 247262625 [A/G] var_1_247263810 1 247263811 [D/I] NM_024804,NM_001142572 ZNF669,ZNF669 EXON exm165952 1 247263818 [T/C] NM_024804,NM_001142572 ZNF669,ZNF669 EXON Missense_Y418C,Missense_Y332C indel.11119 1 247264018 [I/D] NM_024804,NM_001142572 ZNF669,ZNF669 EXON exm165975 1 247264263 [T/C] NM_024804,NM_001142572 ZNF669,ZNF669 EXON Missense_R270G,Missense_R184G exm165977 1 247264347 [T/C] NM_024804,NM_001142572 ZNF669,ZNF669 EXON Missense_I242V,Missense_I156V exm165978 1 247264356 [T/C] NM_024804,NM_001142572 ZNF669,ZNF669 EXON Missense_R239G,Missense_R153G exm165985 1 247264541 [T/C] NM_024804,NM_001142572 ZNF669,ZNF669 EXON Missense_D177G,Missense_D91G exm165986 1 247264611 [T/C] NM_024804,NM_001142572 ZNF669,ZNF669 EXON Missense_V154I,Missense_V68I exm165987 1 247264615 [A/C] NM_024804,NM_001142572 ZNF669,ZNF669 EXON Missense_H152Q,Missense_H66Q exm165994 1 247265294 [A/G] NM_024804,NM_001142572 ZNF669,ZNF669 EXON Missense_S128F,Missense_S42F exm2273762 1 247265307 [T/C] NM_024804,NM_001142572 ZNF669,ZNF669 EXON Missense_R124G,Missense_R38G indel.11121 1 247265334 [D/I] NM_024804,NM_001142572 ZNF669,ZNF669 EXON exm1772752 1 247267248 [T/G] NM_024804,NM_001142572 ZNF669,ZNF669 EXON Missense_P85H,Silent exm166005 1 247267269 [T/C] NM_024804,NM_001142572 ZNF669,ZNF669 EXON Missense_C78Y,Silent exm2232950 1 247267413 [A/C] NM_024804,NM_001142572 ZNF669,ZNF669 EXON Missense_R30L,Silent exm166019 1 247267417 [A/G] NM_024804,NM_001142572 ZNF669,ZNF669 EXON Missense_H29Y,Silent exm166020 1 247267425 [A/G] NM_024804,NM_001142572 ZNF669,ZNF669 EXON Missense_P26L,Silent exm166023 1 247267485 [T/C] NM_024804,NM_001142572 ZNF669,ZNF669 EXON Missense_R6H,Silent exm166024 1 247267486 [T/G] NM_024804,NM_001142572 ZNF669,ZNF669 EXON Missense_R6S,Silent exm166025 1 247267488 [A/G] NM_024804,NM_001142572 ZNF669,ZNF669 EXON Missense_L5P,Silent exm2232951 1 247275264 [A/G] NM_207401 C1orf229 EXON Missense_A88V rs12093759 1 247305873 [T/C] NM_001243740,NM_001297567 ZNF124,ZNF124 Silent,Silent rs3844080 1 247306833 [A/G] NM_001243740,NM_001297567 ZNF124,ZNF124 Silent,Silent rs7521596 1 247308691 [T/C] NM_001243740,NM_001297567 ZNF124,ZNF124 Silent,Silent rs6663210 1 247313462 [T/C] NM_001243740,NM_001297567 ZNF124,ZNF124 Silent,Silent exm166059 1 247319974 [C/G] NM_001243740,NM_001297567,NM_001297568,NM_001297569,NM_003431 ZNF124,ZNF124,ZNF124,ZNF124,ZNF124 EXON Silent,Silent,Missense_P317R,Silent,Missense_P255R exm166061 1 247320050 [A/G] NM_001243740,NM_001297567,NM_001297568,NM_001297569,NM_003431 ZNF124,ZNF124,ZNF124,ZNF124,ZNF124 EXON Silent,Silent,Missense_C292R,Silent,Missense_C230R exm166064 1 247320083 [T/C] NM_001243740,NM_001297567,NM_001297568,NM_001297569,NM_003431 ZNF124,ZNF124,ZNF124,ZNF124,ZNF124 EXON Silent,Silent,Missense_E281K,Silent,Missense_E219K exm166067 1 247320104 [T/C] NM_001243740,NM_001297567,NM_001297568,NM_001297569,NM_003431 ZNF124,ZNF124,ZNF124,ZNF124,ZNF124 EXON Silent,Silent,Missense_A274T,Silent,Missense_A212T exm166068 1 247320105 [T/G] NM_001243740,NM_001297567,NM_001297568,NM_001297569,NM_003431 ZNF124,ZNF124,ZNF124,ZNF124,ZNF124 EXON Silent,Silent,Nonsense_Y273X,Silent,Nonsense_Y211X indel.11131 1 247320433 [D/I] NM_001243740,NM_001297567,NM_001297568,NM_001297569,NM_003431 ZNF124,ZNF124,ZNF124,ZNF124,ZNF124 EXON indel.11132 1 247320461 [I/D] NM_001243740,NM_001297567,NM_001297568,NM_001297569,NM_003431 ZNF124,ZNF124,ZNF124,ZNF124,ZNF124 EXON rs11806327 1 247320868 [A/G] NM_001243740,NM_001297567,NM_001297568,NM_001297569,NM_003431 ZNF124,ZNF124,ZNF124,ZNF124,ZNF124 Silent,Silent,Silent,Silent,Silent newrs146175944 1 247322325 [A/G] NM_001243740,NM_001297567,NM_001297568,NM_001297569,NM_003431 ZNF124,ZNF124,ZNF124,ZNF124,ZNF124 EXON Synonymous_N67N,Synonymous_N67N,Synonymous_N67N,Synonymous_N67N,Synonymous_N67N exm166093 1 247322344 [A/G] NM_001243740,NM_001297567,NM_001297568,NM_001297569,NM_003431 ZNF124,ZNF124,ZNF124,ZNF124,ZNF124 EXON Missense_I61T,Missense_I61T,Missense_I61T,Missense_I61T,Missense_I61T exm166096 1 247323025 [T/C] NM_001243740,NM_001297567,NM_001297568,NM_001297569,NM_003431 ZNF124,ZNF124,ZNF124,ZNF124,ZNF124 EXON Missense_V41M,Missense_V41M,Missense_V41M,Missense_V41M,Missense_V41M indel.11135 1 247323083 [D/I] NM_001243740,NM_001297567,NM_001297568,NM_001297569,NM_003431 ZNF124,ZNF124,ZNF124,ZNF124,ZNF124 EXON exm1772774 1 247323111 [A/G] NM_001243740,NM_001297567,NM_001297568,NM_001297569,NM_003431 ZNF124,ZNF124,ZNF124,ZNF124,ZNF124 EXON Missense_S12L,Missense_S12L,Missense_S12L,Missense_S12L,Missense_S12L rs9793102 1 247323260 [A/C] NM_001243740,NM_001297567,NM_001297568,NM_001297569,NM_003431 ZNF124,ZNF124,ZNF124,ZNF124,ZNF124 Silent,Silent,Silent,Silent,Silent rs1609840 1 247336726 [A/G] rs6659817 1 247340756 [T/G] rs12039124 1 247346189 [T/C] exm-rs3738443 1 247348189 [T/C] rs10754538 1 247352621 [T/C] rs4351686 1 247353330 [T/C] rs12131404 1 247355029 [A/G] rs7551512 1 247360368 [T/C] rs7551871 1 247363190 [A/G] rs11811599 1 247366435 [A/C] rs17269923 1 247372163 [T/G] rs6673528 1 247374931 [A/G] rs6693807 1 247393655 [T/C] rs2793289 1 247401645 [A/G] rs1771942 1 247413084 [T/C] rs1614597 1 247415879 [T/C] rs1778541 1 247419664 [T/C] NM_173858 VN1R5 EXON Synonymous_T97T exm166116 1 247419932 [T/C] NM_173858 VN1R5 EXON Missense_R187W exm166120 1 247419951 [A/G] NM_173858 VN1R5 EXON Missense_R193Q exm166130 1 247420167 [A/G] NM_173858 VN1R5 EXON Missense_K265R exm1772804 1 247420287 [T/A] NM_173858 VN1R5 EXON Missense_Q305L exm166141 1 247420421 [T/C] NM_173858 VN1R5 EXON Missense_R350C rs4642922 1 247422297 [A/G] rs1192831 1 247455719 [A/G] rs1057996 1 247459414 [T/C] rs1616299 1 247462701 [T/C] NM_032752 ZNF496 EXON Silent exm1772813 1 247464002 [T/C] NM_032752 ZNF496 EXON Missense_G528E exm166154 1 247464050 [A/G] NM_032752 ZNF496 EXON Missense_P512L exm166162 1 247464150 [C/G] NM_032752 ZNF496 EXON Missense_L479V exm166173 1 247464476 [T/A] NM_032752 ZNF496 EXON Missense_Y370F exm166176 1 247464573 [T/C] NM_032752 ZNF496 EXON Missense_G338S exm166178 1 247471845 [A/C] NM_032752,NM_001329733 ZNF496,ZNF496 EXON Missense_R313L,Missense_R313L exm166179 1 247471846 [A/G] NM_032752,NM_001329733 ZNF496,ZNF496 EXON Missense_R313C,Missense_R313C exm166185 1 247473018 [A/G] NM_032752,NM_001329733 ZNF496,ZNF496 EXON Missense_P292L,Missense_P292L exm166186 1 247473055 [T/C] NM_032752,NM_001329733 ZNF496,ZNF496 EXON Missense_V280I,Missense_V280I rs11581163 1 247475532 [A/G] NM_032752,NM_001329733 ZNF496,ZNF496 Silent,Silent exm166200 1 247486494 [A/G] NM_032752,NM_001329733 ZNF496,ZNF496 EXON Missense_R205W,Missense_R205W exm166201 1 247486512 [A/G] NM_032752,NM_001329733 ZNF496,ZNF496 EXON Missense_L199F,Missense_L199F rs6690864 1 247490707 [A/G] NM_032752,NM_001329733 ZNF496,ZNF496 Silent,Silent exm166209 1 247492078 [T/C] NM_032752,NM_001329733 ZNF496,ZNF496 EXON Missense_D161N,Missense_D161N exm166233 1 247492783 [T/C] NM_032752,NM_001329733 ZNF496,ZNF496 EXON Missense_G33E,Missense_G33E rs6702432 1 247513049 [A/G] rs2000127 1 247519784 [A/G] rs12043526 1 247537146 [T/G] rs10925006 1 247552084 [T/C] rs2386551 1 247554949 [T/G] rs10802494 1 247559156 [T/C] rs10925010 1 247561724 [A/G] rs4508048 1 247565953 [A/G] rs10737805 1 247568051 [A/G] rs12137901 1 247581209 [T/C] NM_001079821,NM_001127461 NLRP3,NLRP3 Silent,Silent exm166248 1 247582305 [T/C] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_M70T,Missense_M70T,Missense_M70T,Missense_M70T,Missense_M70T,Missense_M68T exm1772866 1 247582310 [A/G] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_V72M,Missense_V72M,Missense_V72M,Missense_V72M,Missense_V72M,Missense_V70M rs4925650 1 247584075 [A/G] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 Silent,Silent,Silent,Silent,Silent,Silent exm1772878 1 247587155 [A/G] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_R137H,Missense_R137H,Missense_R137H,Missense_R137H,Missense_R137H,Missense_R135H newrs121908147 1 247587343 [A/G] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_V200M,Missense_V200M,Missense_V200M,Missense_V200M,Missense_V200M,Missense_V198M exm166268 1 247587389 [A/G] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_H215R,Missense_H215R,Missense_H215R,Missense_H215R,Missense_H215R,Missense_H213R rs7525979 1 247587408 [T/C] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Synonymous_T221T,Synonymous_T221T,Synonymous_T221T,Synonymous_T221T,Synonymous_T221T,Synonymous_T219T exm166271 1 247587425 [T/C] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_A227V,Missense_A227V,Missense_A227V,Missense_A227V,Missense_A227V,Missense_A225V exm166309 1 247588214 [A/G] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_R490K,Missense_R490K,Missense_R490K,Missense_R490K,Missense_R490K,Missense_R488K exm166315 1 247588390 [T/A] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_S549C,Missense_S549C,Missense_S549C,Missense_S549C,Missense_S549C,Missense_S547C exm166327 1 247588687 [T/G] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_D648Y,Missense_D648Y,Missense_D648Y,Missense_D648Y,Missense_D648Y,Missense_D646Y exm166336 1 247592912 [A/G] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_S728G,Missense_S728G,Missense_S728G,Silent,Silent,Missense_S726G rs12564791 1 247594890 [T/C] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 Silent,Silent,Silent,Silent,Silent,Silent exm166351 1 247597571 [A/C] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_L832I,Missense_L832I,Missense_L832I,Missense_L775I,Missense_L775I,Missense_L830I exm-rs1539019 1 247600301 [A/C] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 Silent,Silent,Silent,Silent,Silent,Silent exm-rs12239046 1 247601595 [T/C] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 Silent,Silent,Silent,Silent,Silent,Silent rs4925546 1 247602968 [A/G] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 Silent,Silent,Silent,Silent,Silent,Silent rs10159239 1 247607052 [A/G] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 Silent,Silent,Silent,Silent,Silent,Silent exm166361 1 247607296 [T/C] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_S898P,Missense_S841P,Missense_S898P,Missense_S784P,Missense_S841P,Missense_S896P exm166369 1 247607973 [T/C] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_T954M,Missense_T897M,Missense_T954M,Missense_T840M,Missense_T897M,Missense_T952M exm166381 1 247611749 [A/C] NM_001079821,NM_001127461,NM_004895,NM_183395,NM_001127462,NM_001243133 NLRP3,NLRP3,NLRP3,NLRP3,NLRP3,NLRP3 EXON Missense_L1018F,Missense_L961F,Missense_L1018F,Missense_L904F,Missense_L961F,Missense_L1016F rs10925027 1 247612562 [T/C] indel.11148 1 247614363 [I/D] NM_001004492 OR2B11 EXON exm166382 1 247614386 [T/C] NM_001004492 OR2B11 EXON Missense_D300G newrs148864378 1 247614403 [T/G] NM_001004492 OR2B11 EXON Nonsense_Y294X exm166384 1 247614407 [A/G] NM_001004492 OR2B11 EXON Missense_T293I exm166385 1 247614417 [T/G] NM_001004492 OR2B11 EXON Missense_N290H exm166386 1 247614420 [A/G] NM_001004492 OR2B11 EXON Missense_L289F exm166391 1 247614464 [T/C] NM_001004492 OR2B11 EXON Missense_Q274R exm1772907 1 247614465 [A/G] NM_001004492 OR2B11 EXON Nonsense_Q274X exm166397 1 247614573 [A/G] NM_001004492 OR2B11 EXON Nonsense_R238X exm166399 1 247614606 [A/G] NM_001004492 OR2B11 EXON Missense_R227W exm166400 1 247614617 [T/C] NM_001004492 OR2B11 EXON Missense_G223D exm166401 1 247614645 [A/G] NM_001004492 OR2B11 EXON Missense_P214S exm166403 1 247614657 [A/G] NM_001004492 OR2B11 EXON Missense_F210L exm166406 1 247614685 [T/G] NM_001004492 OR2B11 EXON Missense_D200E exm166408 1 247614693 [T/C] NM_001004492 OR2B11 EXON Missense_V198M exm166409 1 247614723 [T/C] NM_001004492 OR2B11 EXON Missense_V188M exm1772910 1 247614750 [T/C] NM_001004492 OR2B11 EXON Missense_N179D exm166415 1 247614785 [A/G] NM_001004492 OR2B11 EXON Missense_T167M exm166416 1 247614792 [T/C] NM_001004492 OR2B11 EXON Missense_V165I exm166417 1 247614801 [T/C] NM_001004492 OR2B11 EXON Missense_V162M exm166423 1 247614896 [A/C] NM_001004492 OR2B11 EXON Missense_I130S exm166429 1 247614992 [T/C] NM_001004492 OR2B11 EXON Missense_Y98C exm166432 1 247615127 [A/G] NM_001004492 OR2B11 EXON Missense_S53F exm166435 1 247615148 [T/C] NM_001004492 OR2B11 EXON Missense_N46S rs12745508 1 247617979 [A/G] rs10737808 1 247622940 [A/G] rs4604732 1 247623872 [T/C] rs10802514 1 247637749 [T/G] rs10802515 1 247647970 [A/G] rs10754563 1 247652603 [T/G] exm166451 1 247654439 [A/G] NM_001004698 OR2W5 EXON Missense_D4N exm166453 1 247654493 [T/G] NM_001004698 OR2W5 EXON Nonsense_G22X exm166456 1 247654637 [A/G] NM_001004698 OR2W5 EXON Missense_D70N exm166460 1 247654747 [A/G] NM_001004698 OR2W5 EXON Missense_M106I exm166465 1 247654798 [T/G] NM_001004698 OR2W5 EXON Nonsense_Y123X exm166468 1 247654902 [A/T] NM_001004698 OR2W5 EXON Missense_I158N exm166469 1 247654931 [T/C] NM_001004698 OR2W5 EXON Missense_R168W exm166470 1 247654941 [A/G] NM_001004698 OR2W5 EXON Missense_R171H rs10925061 1 247654993 [T/C] NM_001004698 OR2W5 EXON Synonymous_S188S exm166477 1 247655032 [A/C] NM_001004698 OR2W5 EXON Nonsense_C201X exm166480 1 247655088 [A/G] NM_001004698 OR2W5 EXON Missense_R220H exm166482 1 247655102 [A/G] NM_001004698 OR2W5 EXON Missense_G225S exm166485 1 247655270 [T/C] NM_001004698 OR2W5 EXON Missense_R281C exm166487 1 247655279 [T/C] NM_001004698 OR2W5 EXON Nonsense_Q284X exm166490 1 247655365 [C/G] NM_001004698 OR2W5 EXON Missense_W312C rs4472787 1 247666165 [A/G] rs7550918 1 247675559 [T/C] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML Silent,Silent,Silent,Silent,Silent rs1881797 1 247689532 [T/C] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NR_027309 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML-AS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs1881797 1 247689532 [T/C] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NR_027309 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML-AS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12404733 1 247690417 [T/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NR_027309 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML-AS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm166497 1 247694898 [T/C] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_198074 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,OR2C3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V306I exm166500 1 247694949 [C/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_198074 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,OR2C3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_L289V exm166506 1 247695111 [A/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_198074 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,OR2C3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R235W exm166509 1 247695143 [T/C] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_198074 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,OR2C3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R224Q exm2250989 1 247695223 [T/C] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_198074 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,OR2C3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_E197E exm166514 1 247695273 [T/C] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_198074 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,OR2C3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_E181K exm166515 1 247695283 [C/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_198074 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,OR2C3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_H177Q exm166521 1 247695413 [A/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_198074 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,OR2C3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T134I exm166522 1 247695427 [G/C] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_198074 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,OR2C3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R129S exm166524 1 247695446 [T/C] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_198074 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,OR2C3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R123H exm166531 1 247695612 [A/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_198074 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,OR2C3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P68S exm1772949 1 247695615 [C/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_198074 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,OR2C3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_L67V exm166532 1 247695698 [A/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_198074 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,OR2C3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S39L exm166534 1 247695726 [T/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_198074 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,OR2C3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_I30L exm166535 1 247695729 [A/C] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_198074 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,OR2C3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_F29V exm166537 1 247695756 [T/C] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_198074 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,OR2C3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T20A rs10802521 1 247696047 [A/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_198074 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,OR2C3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10925073 1 247701607 [T/C] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML Silent,Silent,Silent,Silent,Silent,Silent rs10925076 1 247702886 [A/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML Silent,Silent,Silent,Silent,Silent,Silent rs7550776 1 247703769 [A/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML Silent,Silent,Silent,Silent,Silent,Silent rs1105488 1 247710624 [T/C] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML Silent,Silent,Silent,Silent,Silent,Silent variant.11156 1 247712477 [T/C] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_145278 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm166543 1 247712512 [T/C] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_145278 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML EXON Nonsense_R7X,Silent,Silent,Nonsense_R7X,Nonsense_R7X,Silent,Nonsense_R7X rs3862182 1 247719377 [T/C] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_145278 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.11157 1 247719768 [A/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_145278 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML EXON Missense_R30Q,Silent,Silent,Silent,Silent,Silent,Missense_R30Q exm166548 1 247719769 [A/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_145278 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML Silent,Silent,Silent,Silent,Silent,Silent,Silent exm166554 1 247726936 [A/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_145278 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML EXON Missense_K45R,Missense_K13R,Missense_K13R,Missense_K25R,Missense_K25R,Missense_K13R,Missense_K45R rs1176064 1 247728684 [A/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_145278 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML Silent,Silent,Silent,Silent,Silent,Silent,Silent exm166559 1 247729238 [A/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_145278 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML EXON Missense_E49K,Missense_E17K,Missense_E17K,Missense_E29K,Missense_E29K,Missense_E17K,Missense_E49K exm166563 1 247737493 [A/C] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_145278 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML EXON Missense_N73H,Missense_N41H,Missense_N41H,Missense_N53H,Missense_N53H,Missense_N41H,Missense_N73H exm166565 1 247737547 [A/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_145278 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML EXON Missense_N91D,Missense_N59D,Missense_N59D,Missense_N71D,Missense_N71D,Missense_N59D,Missense_N91D rs12402077 1 247739213 [A/G] NM_001281853,NM_001281838,NM_001281836,NM_001281835,NM_001281834,NM_001281837,NM_145278 GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML,GCSAML EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10802523 1 247745313 [T/G] exm166577 1 247751731 [C/G] NM_001001915 OR2G2 EXON Missense_P24A variant.11160 1 247751734 [T/C] NM_001001915 OR2G2 EXON Nonsense_Q25X exm166580 1 247751897 [G/C] NM_001001915 OR2G2 EXON Missense_S79T exm166587 1 247752019 [G/C] NM_001001915 OR2G2 EXON Missense_V120L exm166588 1 247752034 [A/C] NM_001001915 OR2G2 EXON Missense_R125S exm166589 1 247752037 [T/C] NM_001001915 OR2G2 EXON Missense_Y126H exm166591 1 247752109 [A/G] NM_001001915 OR2G2 EXON Missense_M150V exm166595 1 247752183 [A/T] NM_001001915 OR2G2 EXON Missense_H174Q exm166600 1 247752367 [A/G] NM_001001915 OR2G2 EXON Missense_R236G rs869111 1 247752367 [A/G] NM_001001915 OR2G2 EXON Missense_R236G exm166601 1 247752386 [A/G] NM_001001915 OR2G2 EXON Missense_G242E exm166603 1 247752502 [T/C] NM_001001915 OR2G2 EXON Missense_Y281H exm166605 1 247752518 [A/G] NM_001001915 OR2G2 EXON Missense_R286H rs6676750 1 247760810 [A/G] rs7523061 1 247762328 [T/C] rs12080930 1 247768808 [A/G] variant.11161 1 247768903 [T/G] NM_001001914 OR2G3 EXON Nonsense_E6X exm166615 1 247768948 [T/C] NM_001001914 OR2G3 EXON Missense_P21S exm166620 1 247769030 [T/C] NM_001001914 OR2G3 EXON Missense_I48T exm166621 1 247769048 [T/C] NM_001001914 OR2G3 EXON Missense_P54L exm166623 1 247769062 [A/G] NM_001001914 OR2G3 EXON Missense_M59V exm166624 1 247769082 [A/C] NM_001001914 OR2G3 EXON Missense_N65K exm166625 1 247769120 [T/C] NM_001001914 OR2G3 EXON Missense_A78V exm166629 1 247769204 [T/C] NM_001001914 OR2G3 EXON Missense_A106V exm166631 1 247769207 [T/G] NM_001001914 OR2G3 EXON Missense_L107R exm166638 1 247769378 [T/C] NM_001001914 OR2G3 EXON Missense_L164S exm166640 1 247769412 [A/C] NM_001001914 OR2G3 EXON Missense_D175E exm166641 1 247769419 [A/G] NM_001001914 OR2G3 EXON Missense_I178V exm166643 1 247769425 [A/G] NM_001001914 OR2G3 EXON Missense_E180K exm166645 1 247769441 [T/C] NM_001001914 OR2G3 EXON Missense_L185P exm166648 1 247769573 [T/A] NM_001001914 OR2G3 EXON Missense_K229I exm166651 1 247769659 [A/G] NM_001001914 OR2G3 EXON Missense_V258M exm2232962 1 247769687 [T/C] NM_001001914 OR2G3 EXON Missense_A267V exm166653 1 247769692 [A/G] NM_001001914 OR2G3 EXON Missense_D269N exm166656 1 247769752 [A/G] NM_001001914 OR2G3 EXON Missense_I289V exm1772987 1 247769768 [A/T] NM_001001914 OR2G3 EXON Missense_N294I exm166659 1 247769786 [A/C] NM_001001914 OR2G3 EXON Missense_A300D indel.11162 1 247769799 [I/D] NM_001001914 OR2G3 EXON rs1144815 1 247781569 [T/C] rs1144814 1 247783890 [A/G] rs1176018 1 247789226 [A/G] exm2264979 1 247799606 [A/G] rs1391483 1 247815357 [T/C] rs28723634 1 247834126 [T/C] rs1151641 1 247835352 [T/C] exm166662 1 247835493 [A/G] NM_001005487 OR13G1 EXON Missense_P284L indel.11163 1 247835605 [D/I] NM_001005487 OR13G1 EXON 1KG_1_247835614 1 247835614 [I/D] NM_001005487 OR13G1 EXON newrs139644316 1 247835615 [I/D] NM_001005487 OR13G1 EXON exm166667 1 247835651 [A/C] NM_001005487 OR13G1 EXON Missense_K231N exm166669 1 247835673 [T/C] NM_001005487 OR13G1 EXON Missense_R224H exm166670 1 247835674 [A/G] NM_001005487 OR13G1 EXON Missense_R224C indel.11166 1 247835725 [D/I] NM_001005487 OR13G1 EXON exm1772999 1 247835749 [T/C] NM_001005487 OR13G1 EXON Missense_A199T exm1773000 1 247835782 [C/G] NM_001005487 OR13G1 EXON Missense_P188A exm166679 1 247835857 [A/C] NM_001005487 OR13G1 EXON Missense_L163V exm166680 1 247835859 [G/C] NM_001005487 OR13G1 EXON Missense_R162T exm166682 1 247835889 [T/C] NM_001005487 OR13G1 EXON Missense_N152S exm166683 1 247835908 [A/T] NM_001005487 OR13G1 EXON Missense_M146L exm166685 1 247835950 [T/C] NM_001005487 OR13G1 EXON Missense_I132V exm166686 1 247835961 [T/C] NM_001005487 OR13G1 EXON Missense_H128R exm166690 1 247836078 [A/C] NM_001005487 OR13G1 EXON Missense_I89S exm166695 1 247836207 [A/T] NM_001005487 OR13G1 EXON Missense_K46I indel.11168 1 247836249 [I/D] NM_001005487 OR13G1 EXON indel.11169 1 247836294 [I/D] NM_001005487 OR13G1 EXON rs28620741 1 247840784 [T/C] rs1151633 1 247841859 [A/C] rs1176001 1 247845256 [A/G] rs6679472 1 247861516 [A/C] rs7526880 1 247862621 [T/C] rs12091656 1 247874551 [T/C] indel.11170 1 247875134 [I/D] NM_001005286 OR6F1 EXON indel.11171 1 247875172 [D/I] NM_001005286 OR6F1 EXON exm166702 1 247875276 [T/C] NM_001005286 OR6F1 EXON Missense_R261H variant.11173 1 247875306 [T/C] NM_001005286 OR6F1 EXON Nonsense_W251X exm166706 1 247875313 [A/G] NM_001005286 OR6F1 EXON Missense_L249F exm166710 1 247875358 [A/G] NM_001005286 OR6F1 EXON Missense_R234W exm166713 1 247875415 [A/G] NM_001005286 OR6F1 EXON Missense_F215L exm1773019 1 247875516 [A/G] NM_001005286 OR6F1 EXON Missense_I181T exm166720 1 247875543 [T/C] NM_001005286 OR6F1 EXON Missense_R172H exm166724 1 247875583 [G/C] NM_001005286 OR6F1 EXON Missense_P159A exm166727 1 247875598 [T/C] NM_001005286 OR6F1 EXON Missense_V154M exm166729 1 247875604 [T/C] NM_001005286 OR6F1 EXON Missense_G152S exm166745 1 247875825 [A/G] NM_001005286 OR6F1 EXON Missense_V78A exm2273763 1 247875945 [C/G] NM_001005286 OR6F1 EXON Missense_T38R exm166750 1 247875975 [A/G] NM_001005286 OR6F1 EXON Missense_F28S exm166753 1 247876020 [A/G] NM_001005286 OR6F1 EXON Missense_L13P var_1_247876023 1 247876024 [D/I] NM_001005286 OR6F1 EXON rs6587397 1 247881348 [A/G] rs7553918 1 247896795 [T/G] NM_001355292 OR14A2 Silent var_1_247901987 1 247901988 [D/I] NM_001355292,NM_001004732 OR14A2,OR14K1 EXON rs841166 1 247910014 [T/C] NM_001355292 OR14A2 Silent rs841163 1 247910460 [T/C] NM_001355292 OR14A2 Silent exm166791 1 247920871 [T/C] NM_012353 OR1C1 EXON Missense_M280V exm166792 1 247920880 [T/G] NM_012353 OR1C1 EXON Missense_M277L exm166804 1 247921083 [A/G] NM_012353 OR1C1 EXON Missense_T209M exm2232963 1 247921108 [T/C] NM_012353 OR1C1 EXON Missense_A201T exm166808 1 247921174 [A/G] NM_012353 OR1C1 EXON Missense_C179R exm2232964 1 247921340 [T/A] NM_012353 OR1C1 EXON Nonsense_Y123X exm166820 1 247921509 [A/G] NM_012353 OR1C1 EXON Missense_A67V exm166823 1 247921546 [A/G] NM_012353 OR1C1 EXON Missense_L55F exm2273764 1 247921589 [G/C] NM_012353 OR1C1 EXON Missense_L40F exm166827 1 247921612 [A/C] NM_012353 OR1C1 EXON Missense_C33G rs10888379 1 247929510 [T/C] rs1493255 1 247936783 [A/G] rs2101702 1 247952900 [A/C] rs4925707 1 247961058 [A/G] rs7529313 1 247972002 [T/C] rs7541715 1 247975655 [T/C] indel.11180 1 247978191 [I/D] NM_001001966 OR14A16 EXON exm166835 1 247978232 [A/C] NM_001001966 OR14A16 EXON Missense_L267W exm166839 1 247978319 [A/G] NM_001001966 OR14A16 EXON Missense_I238T exm166844 1 247978436 [A/C] NM_001001966 OR14A16 EXON Missense_L199R exm166846 1 247978517 [A/G] NM_001001966 OR14A16 EXON Missense_V172A exm166851 1 247978586 [T/C] NM_001001966 OR14A16 EXON Missense_Y149C exm166855 1 247978659 [A/G] NM_001001966 OR14A16 EXON Missense_C125R indel.11181 1 247978745 [D/I] NM_001001966 OR14A16 EXON exm166867 1 247978814 [G/C] NM_001001966 OR14A16 EXON Nonsense_S73X exm166872 1 247978885 [G/C] NM_001001966 OR14A16 EXON Missense_L49F exm166877 1 247978942 [C/G] NM_001001966 OR14A16 EXON Missense_L30F exm166882 1 247979013 [T/C] NM_001001966 OR14A16 EXON Missense_V7M rs12130569 1 247986129 [A/G] rs4925724 1 247991609 [A/G] rs11807791 1 247995497 [T/C] rs10888252 1 247997613 [A/G] exm166892 1 248004334 [T/C] NM_001001959 OR11L1 EXON Missense_I289V exm166894 1 248004375 [G/C] NM_001001959 OR11L1 EXON Missense_S275C exm2275558 1 248004389 [A/G] NM_001001959 OR11L1 EXON Synonymous_I270I exm166898 1 248004499 [A/G] NM_001001959 OR11L1 EXON Missense_R234W exm166909 1 248004687 [C/G] NM_001001959 OR11L1 EXON Missense_R171P exm1773063 1 248004745 [G/C] NM_001001959 OR11L1 EXON Missense_G152R exm166910 1 248004752 [T/C] NM_001001959 OR11L1 EXON Nonsense_W149X exm166912 1 248004775 [T/C] NM_001001959 OR11L1 EXON Missense_A142T exm166913 1 248004787 [A/G] NM_001001959 OR11L1 EXON Missense_R138C exm166916 1 248004848 [C/G] NM_001001959 OR11L1 EXON Missense_F117L exm166917 1 248004868 [T/C] NM_001001959 OR11L1 EXON Missense_E111K exm166918 1 248004876 [T/C] NM_001001959 OR11L1 EXON Missense_G108D exm166919 1 248004877 [T/C] NM_001001959 OR11L1 EXON Missense_G108S exm166923 1 248004930 [T/G] NM_001001959 OR11L1 EXON Missense_Q90P exm166925 1 248005038 [T/C] NM_001001959 OR11L1 EXON Missense_R54Q exm166927 1 248005044 [T/C] NM_001001959 OR11L1 EXON Missense_G52D exm2232965 1 248005109 [A/C] NM_001001959 OR11L1 EXON Missense_I30M exm2232966 1 248005142 [T/G] NM_001001959 OR11L1 EXON Missense_N19K exm166930 1 248005162 [G/C] NM_001001959 OR11L1 EXON Missense_Q13E exm166931 1 248005189 [C/G] NM_001001959 OR11L1 EXON Missense_Q4E rs7530535 1 248012296 [A/G] rs7513527 1 248018426 [T/C] rs3737277 1 248023966 [T/C] NM_015431 TRIM58 EXON Synonymous_D156D rs4925572 1 248027152 [T/C] NM_015431 TRIM58 Silent exm166956 1 248028032 [A/G] NM_015431 TRIM58 EXON Missense_R181H exm166958 1 248028041 [T/G] NM_015431 TRIM58 EXON Missense_L184W exm166961 1 248028098 [A/G] NM_015431 TRIM58 EXON Missense_R203Q exm166964 1 248028115 [T/C] NM_015431 TRIM58 EXON Nonsense_R209X exm166965 1 248028119 [T/C] NM_015431 TRIM58 EXON Missense_A210V exm166966 1 248028122 [T/C] NM_015431 TRIM58 EXON Missense_T211M exm166968 1 248028136 [T/C] NM_015431 TRIM58 EXON Missense_R216W exm166973 1 248028200 [A/G] NM_015431 TRIM58 EXON Missense_Q237R exm166975 1 248028215 [A/G] NM_015431 TRIM58 EXON Missense_R242H exm166976 1 248028218 [T/C] NM_015431 TRIM58 EXON Missense_P243L rs6657427 1 248032168 [A/G] NM_015431 TRIM58 Silent rs12404622 1 248035778 [T/C] NM_015431 TRIM58 Silent exm166986 1 248039252 [A/G] NM_015431 TRIM58 EXON Missense_A308T exm166989 1 248039294 [A/G] NM_015431 TRIM58 EXON Missense_V322I exm166995 1 248039555 [T/C] NM_015431 TRIM58 EXON Missense_R409C exm1773098 1 248039679 [T/C] NM_015431 TRIM58 EXON Missense_I450T exm-rs3811445 1 248039713 [A/G] NM_015431 TRIM58 EXON Synonymous_T461T indel.11196 1 248039766 [D/I] NM_015431 TRIM58 EXON exm167009 1 248039789 [T/C] NM_015431 TRIM58 EXON Missense_X487Q rs11204537 1 248043646 [A/G] exm-rs11204538 1 248046272 [T/C] rs6587386 1 248058265 [A/G] variant.11197 1 248058946 [T/C] NM_001001957 OR2W3 EXON Nonsense_R20X exm167016 1 248058983 [T/G] NM_001001957 OR2W3 EXON Missense_L32R exm167018 1 248058988 [A/G] NM_001001957 OR2W3 EXON Missense_A34T exm167020 1 248059045 [A/C] NM_001001957 OR2W3 EXON Missense_P53T exm167028 1 248059151 [A/G] NM_001001957 OR2W3 EXON Missense_C88Y exm167035 1 248059253 [A/G] NM_001001957 OR2W3 EXON Missense_R122Q exm1773105 1 248059312 [T/C] NM_001001957 OR2W3 EXON Missense_R142W exm167038 1 248059313 [A/G] NM_001001957 OR2W3 EXON Missense_R142Q exm167040 1 248059394 [G/C] NM_001001957 OR2W3 EXON Missense_C169S exm167043 1 248059423 [T/C] NM_001001957 OR2W3 EXON Missense_R179C exm167046 1 248059435 [A/G] NM_001001957 OR2W3 EXON Missense_A183T exm167048 1 248059456 [A/G] NM_001001957 OR2W3 EXON Missense_V190I exm167049 1 248059476 [A/C] NM_001001957 OR2W3 EXON Missense_E196D exm167050 1 248059483 [A/G] NM_001001957 OR2W3 EXON Missense_V199I exm167051 1 248059496 [T/C] NM_001001957 OR2W3 EXON Missense_A203V exm167055 1 248059603 [A/G] NM_001001957 OR2W3 EXON Missense_G239S exm167065 1 248059736 [T/C] NM_001001957 OR2W3 EXON Missense_P283L exm167069 1 248059798 [T/A] NM_001001957 OR2W3 EXON Missense_L304M rs10888268 1 248059856 [T/C] rs6587388 1 248060541 [T/C] rs6587399 1 248072026 [T/C] rs4259697 1 248073488 [T/C] rs11204555 1 248074978 [A/G] rs11204557 1 248076269 [A/G] rs10888274 1 248079963 [A/C] rs10888277 1 248082848 [A/G] exm167073 1 248084321 [T/C] NM_001005522 OR2T8 EXON Missense_M1T exm167074 1 248084324 [T/A] NM_001005522 OR2T8 EXON Missense_E2V indel.11203 1 248084365 [I/D] NM_001005522 OR2T8 EXON exm167077 1 248084375 [C/G] NM_001005522 OR2T8 EXON Missense_T19S exm167146 1 248085207 [C/G] NM_001005522 OR2T8 EXON Missense_K296N exm167149 1 248085233 [A/G] NM_001005522 OR2T8 EXON Missense_R305Q rs11204565 1 248094461 [A/G] indel.11206 1 248112381 [I/D] NM_175911,NM_001304535,NM_001001963 OR2L13,OR2L13,OR2L8 EXON rs2184995 1 248115436 [A/C] NM_175911,NM_001304535 OR2L13,OR2L13 Silent,Silent rs10888287 1 248117416 [T/G] NM_175911,NM_001304535 OR2L13,OR2L13 Silent,Silent indel.11208 1 248128716 [I/D] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON exm167232 1 248128722 [T/C] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON Silent,Silent,Missense_V30A exm167233 1 248128725 [A/G] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON Silent,Silent,Missense_G31D exm167234 1 248128745 [A/G] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON Silent,Silent,Missense_I38V exm1773190 1 248128809 [T/C] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON Silent,Silent,Missense_M59T exm167240 1 248128896 [A/T] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON Silent,Silent,Missense_Y88F rs6664332 1 248128929 [A/G] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON Silent,Silent,Missense_S99N exm167241 1 248128929 [A/G] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON Silent,Silent,Missense_S99N exm167243 1 248128983 [T/A] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON Silent,Silent,Missense_Y117F exm167246 1 248129037 [A/G] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON Silent,Silent,Missense_Y135C exm167255 1 248129192 [T/C] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON Silent,Silent,Missense_R187W exm167256 1 248129195 [T/C] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON Silent,Silent,Missense_L188F rs4478844 1 248129240 [A/G] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON Silent,Silent,Missense_V203M exm167259 1 248129240 [A/G] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON Silent,Silent,Missense_V203M exm167262 1 248129304 [T/C] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON Silent,Silent,Missense_L224P var_1_248129415 1 248129416 [I/D] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON exm167268 1 248129475 [A/G] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON Silent,Silent,Missense_R281H exm167270 1 248129486 [T/C] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON Silent,Silent,Missense_R285W exm167272 1 248129501 [A/G] NM_175911,NM_001304535,NM_001004491 OR2L13,OR2L13,OR2AK2 EXON Silent,Silent,Missense_A290T rs4451578 1 248138217 [T/G] NM_175911,NM_001304535 OR2L13,OR2L13 Silent,Silent rs6684714 1 248142049 [A/C] NM_175911,NM_001304535 OR2L13,OR2L13 Silent,Silent rs6695603 1 248145644 [T/C] NM_175911,NM_001304535 OR2L13,OR2L13 Silent,Silent rs11576203 1 248148188 [T/C] NM_175911,NM_001304535 OR2L13,OR2L13 Silent,Silent exm167289 1 248201633 [T/A] NM_175911,NM_001304535,NM_001004686 OR2L13,OR2L13,OR2L2 EXON Silent,Silent,Missense_I22F indel.11210 1 248201731 [I/D] NM_175911,NM_001304535,NM_001004686 OR2L13,OR2L13,OR2L2 EXON exm167303 1 248201836 [T/G] NM_175911,NM_001304535,NM_001004686 OR2L13,OR2L13,OR2L2 EXON Silent,Silent,Missense_K89N indel.11211 1 248201848 [D/I] NM_175911,NM_001304535,NM_001004686 OR2L13,OR2L13,OR2L2 EXON exm167305 1 248201856 [A/G] NM_175911,NM_001304535,NM_001004686 OR2L13,OR2L13,OR2L2 EXON Silent,Silent,Missense_C96Y exm167310 1 248201885 [T/G] NM_175911,NM_001304535,NM_001004686 OR2L13,OR2L13,OR2L2 EXON Silent,Silent,Missense_L106V exm2250994 1 248201890 [A/G] NM_175911,NM_001304535,NM_001004686 OR2L13,OR2L13,OR2L2 EXON Silent,Silent,Synonymous_A107A exm167312 1 248201890 [A/G] NM_175911,NM_001304535,NM_001004686 OR2L13,OR2L13,OR2L2 EXON Silent,Silent,Synonymous_A107A exm167323 1 248202047 [A/G] NM_175911,NM_001304535,NM_001004686 OR2L13,OR2L13,OR2L2 EXON Silent,Silent,Missense_V160I exm167327 1 248202123 [T/C] NM_175911,NM_001304535,NM_001004686 OR2L13,OR2L13,OR2L2 EXON Silent,Silent,Missense_T185M indel.11212 1 248202164 [I/D] NM_175911,NM_001304535,NM_001004686 OR2L13,OR2L13,OR2L2 EXON exm167329 1 248202174 [C/G] NM_175911,NM_001304535,NM_001004686 OR2L13,OR2L13,OR2L2 EXON Silent,Silent,Missense_S202T exm167330 1 248202191 [T/C] NM_175911,NM_001304535,NM_001004686 OR2L13,OR2L13,OR2L2 EXON Silent,Silent,Missense_L208F exm167336 1 248202233 [A/C] NM_175911,NM_001304535,NM_001004686 OR2L13,OR2L13,OR2L2 EXON Silent,Silent,Missense_L222I exm2250995 1 248202295 [A/C] NM_175911,NM_001304535,NM_001004686 OR2L13,OR2L13,OR2L2 EXON Silent,Silent,Synonymous_T242T exm167342 1 248202318 [A/G] NM_175911,NM_001304535,NM_001004686 OR2L13,OR2L13,OR2L2 EXON Silent,Silent,Missense_Y250C exm167343 1 248202324 [A/C] NM_175911,NM_001304535,NM_001004686 OR2L13,OR2L13,OR2L2 EXON Silent,Silent,Missense_A252E rs6658227 1 248224216 [T/C] NM_175911,NM_001304535,NM_001004687 OR2L13,OR2L13,OR2L3 EXON Silent,Silent,Missense_P78L exm2232975 1 248224384 [A/G] NM_175911,NM_001304535,NM_001004687 OR2L13,OR2L13,OR2L3 EXON Silent,Silent,Missense_R134H exm2260077 1 248227201 [A/C] NM_175911,NM_001304535 OR2L13,OR2L13 Silent,Silent rs5015667 1 248241096 [A/G] NM_175911,NM_001304535 OR2L13,OR2L13 Silent,Silent rs11204589 1 248249895 [A/G] NM_175911,NM_001304535 OR2L13,OR2L13 Silent,Silent rs7525316 1 248256924 [A/G] NM_175911,NM_001304535 OR2L13,OR2L13 Silent,Silent exm167426 1 248262774 [A/G] NM_175911,NM_001304535 OR2L13,OR2L13 EXON Missense_I33V,Missense_I33V exm2232976 1 248262816 [G/C] NM_175911,NM_001304535 OR2L13,OR2L13 EXON Missense_L47V,Missense_L47V exm167427 1 248262825 [G/C] NM_175911,NM_001304535 OR2L13,OR2L13 EXON Missense_V50L,Missense_V50L exm167428 1 248262834 [T/C] NM_175911,NM_001304535 OR2L13,OR2L13 EXON Missense_R53C,Missense_R53C exm2250997 1 248262987 [T/C] NM_175911,NM_001304535 OR2L13,OR2L13 EXON Synonymous_L104L,Synonymous_L104L exm2273766 1 248262993 [A/G] NM_175911,NM_001304535 OR2L13,OR2L13 EXON Missense_M106V,Missense_M106V exm167440 1 248263024 [C/G] NM_175911,NM_001304535 OR2L13,OR2L13 EXON Missense_S116C,Missense_S116C exm167441 1 248263027 [T/C] NM_175911,NM_001304535 OR2L13,OR2L13 EXON Missense_M117T,Missense_M117T indel.11216 1 248263179 [D/I] NM_175911,NM_001304535 OR2L13,OR2L13 EXON exm167449 1 248263199 [C/G] NM_175911,NM_001304535 OR2L13,OR2L13 EXON Missense_D174E,Missense_D174E exm167451 1 248263255 [T/G] NM_175911,NM_001304535 OR2L13,OR2L13 EXON Missense_V193G,Missense_V193G var_1_248263352 1 248263352 [T/G] NM_175911,NM_001304535 OR2L13,OR2L13 EXON Nonsense_Y225X,Nonsense_Y225X indel.11218 1 248263411 [D/I] NM_175911,NM_001304535 OR2L13,OR2L13 EXON exm167463 1 248263447 [T/C] NM_175911,NM_001304535 OR2L13,OR2L13 EXON Missense_T257I,Missense_T257I exm167464 1 248263471 [A/G] NM_175911,NM_001304535 OR2L13,OR2L13 EXON Missense_R265H,Missense_R265H exm167466 1 248263495 [T/G] NM_175911,NM_001304535 OR2L13,OR2L13 EXON Missense_L273R,Missense_L273R exm167468 1 248263524 [A/G] NM_175911,NM_001304535 OR2L13,OR2L13 EXON Missense_M283V,Missense_M283V rs10749643 1 248264018 [T/C] NM_175911,NM_001304535 OR2L13,OR2L13 EXON Silent,Silent rs3001300 1 248297531 [T/C] indel.11220 1 248308708 [I/D] NM_001004690 OR2M5 EXON indel.11221 1 248309181 [D/I] NM_001004690 OR2M5 EXON variant.11222 1 248309205 [T/G] NM_001004690 OR2M5 EXON Nonsense_Y252X indel.11223 1 248309214 [I/D] NM_001004690 OR2M5 EXON exm167538 1 248309227 [A/G] NM_001004690 OR2M5 EXON Missense_I260V exm167542 1 248309260 [G/C] NM_001004690 OR2M5 EXON Missense_D271H exm167547 1 248309323 [G/C] NM_001004690 OR2M5 EXON Missense_L292V exm1773401 1 248309326 [T/C] NM_001004690 OR2M5 EXON Missense_R293C exm167552 1 248309356 [A/G] NM_001004690 OR2M5 EXON Missense_K303E exm1773402 1 248309363 [A/T] NM_001004690 OR2M5 EXON Nonsense_L305X rs11804999 1 248322479 [A/C] rs9435885 1 248322906 [T/C] exm167557 1 248343343 [A/C] NM_001004688 OR2M2 EXON Missense_N19T exm167578 1 248343600 [A/G] NM_001004688 OR2M2 EXON Missense_I105V exm167580 1 248343652 [A/G] NM_001004688 OR2M2 EXON Missense_R122H exm167622 1 248344235 [T/A] NM_001004688 OR2M2 EXON Missense_H316Q indel.11227 1 248344242 [I/D] NM_001004688 OR2M2 EXON rs4412630 1 248352243 [T/G] rs12025124 1 248356143 [A/G] rs7548525 1 248360026 [A/G] exm167630 1 248366370 [A/G] NM_001004689 OR2M3 EXON Missense_M1V exm167637 1 248366400 [A/G] NM_001004689 OR2M3 EXON Missense_D11N exm167640 1 248366425 [A/G] NM_001004689 OR2M3 EXON Missense_N19S exm167654 1 248366682 [A/G] NM_001004689 OR2M3 EXON Missense_T105A indel.11230 1 248367228 [D/I] NM_001004689 OR2M3 EXON exm167688 1 248367255 [A/G] NM_001004689 OR2M3 EXON Missense_E296K exm167691 1 248367306 [T/A] NM_001004689 OR2M3 EXON Missense_X313R rs4347239 1 248401116 [A/G] exm167697 1 248402317 [T/C] NM_017504 OR2M4 EXON Synonymous_S29S exm2251005 1 248402317 [T/C] NM_017504 OR2M4 EXON Synonymous_S29S exm167706 1 248402579 [G/C] NM_017504 OR2M4 EXON Missense_V117L indel.11231 1 248402704 [I/D] NM_017504 OR2M4 EXON exm167718 1 248402784 [T/G] NM_017504 OR2M4 EXON Nonsense_L185X exm167719 1 248402799 [T/C] NM_017504 OR2M4 EXON Missense_T190I exm167723 1 248402897 [T/C] NM_017504 OR2M4 EXON Nonsense_R223X exm167732 1 248403015 [A/C] NM_017504 OR2M4 EXON Missense_P262Q exm167733 1 248403030 [T/C] NM_017504 OR2M4 EXON Missense_T267M exm167737 1 248403054 [T/C] NM_017504 OR2M4 EXON Missense_S275L rs6587440 1 248415662 [A/G] rs4517383 1 248426484 [T/C] indel.11235 1 248437030 [I/D] NM_001004695 OR2T33 EXON indel.11236 1 248437112 [I/D] NM_001004695 OR2T33 EXON rs10888339 1 248440362 [T/C] rs10888354 1 248455512 [A/G] indel.11237 1 248458005 [D/I] NM_001004692 OR2T12 EXON newrs145414211 1 248458133 [I/D] NM_001004692 OR2T12 EXON exm167892 1 248458760 [A/C] NM_001004692 OR2T12 EXON Missense_A41S exm167893 1 248458766 [T/C] NM_001004692 OR2T12 EXON Missense_S39G exm167898 1 248458786 [A/G] NM_001004692 OR2T12 EXON Missense_T32I exm167903 1 248458825 [G/C] NM_001004692 OR2T12 EXON Missense_T19S rs4372295 1 248464871 [T/G] rs4244183 1 248471222 [A/G] rs4310471 1 248475798 [A/G] exm167927 1 248487058 [C/G] NM_001004691 OR2M7 EXON Missense_D271E exm2273767 1 248487100 [T/G] NM_001004691 OR2M7 EXON Missense_F257L rs4244187 1 248493511 [T/C] exm-rs4481887 1 248496863 [A/G] rs1339992 1 248509182 [A/G] rs1339988 1 248511674 [A/G] exm2264980 1 248511674 [A/G] exm167987 1 248512255 [T/C] NM_001001918 OR14C36 EXON Missense_F60S indel.11242 1 248512265 [D/I] NM_001001918 OR14C36 EXON exm167992 1 248512354 [T/C] NM_001001918 OR14C36 EXON Missense_A93V exm167995 1 248512380 [A/G] NM_001001918 OR14C36 EXON Missense_V102M var_1_248512383 1 248512383 [I/D] NM_001001918 OR14C36 EXON exm168005 1 248512498 [A/G] NM_001001918 OR14C36 EXON Missense_Q141R exm1773668 1 248512573 [T/C] NM_001001918 OR14C36 EXON Missense_F166S exm168011 1 248512652 [A/C] NM_001001918 OR14C36 EXON Missense_S192R exm168017 1 248512749 [A/G] NM_001001918 OR14C36 EXON Missense_G225R exm168018 1 248512767 [T/G] NM_001001918 OR14C36 EXON Missense_D231Y exm168022 1 248512842 [C/G] NM_001001918 OR14C36 EXON Missense_V256L exm168028 1 248512990 [T/G] NM_001001918 OR14C36 EXON Missense_R305I rs1934541 1 248515194 [T/C] rs946761 1 248521032 [T/C] rs1544175 1 248524262 [A/G] exm168031 1 248524890 [A/G] NM_001004696 OR2T4 EXON Missense_N3S exm168038 1 248524967 [A/G] NM_001004696 OR2T4 EXON Missense_M29V indel.11244 1 248525167 [D/I] NM_001004696 OR2T4 EXON newrs141576206 1 248525288 [I/D] NM_001004696 OR2T4 EXON exm1773682 1 248525402 [A/C] NM_001004696 OR2T4 EXON Missense_L174I exm168100 1 248525439 [T/G] NM_001004696 OR2T4 EXON Missense_V186G exm168104 1 248525484 [A/G] NM_001004696 OR2T4 EXON Missense_R201H exm168126 1 248525856 [A/G] NM_001004696 OR2T4 EXON Missense_R325K exm168127 1 248525864 [G/C] NM_001004696 OR2T4 EXON Missense_D328H exm168130 1 248525923 [A/G] NM_001004696 OR2T4 EXON Missense_M347I rs6669587 1 248528981 [T/C] rs7418152 1 248550894 [T/G] exm168133 1 248550916 [A/G] NM_001005471 OR2T6 EXON Missense_E3K exm168140 1 248550970 [A/G] NM_001005471 OR2T6 EXON Missense_N21D exm168141 1 248550976 [T/G] NM_001005471 OR2T6 EXON Missense_C23G exm168142 1 248550977 [T/G] NM_001005471 OR2T6 EXON Missense_C23F exm168145 1 248551009 [A/G] NM_001005471 OR2T6 EXON Missense_V34I exm168148 1 248551079 [A/C] NM_001005471 OR2T6 EXON Missense_T57N rs6693032 1 248551079 [A/C] NM_001005471 OR2T6 EXON Missense_T57N indel.11247 1 248551109 [D/I] NM_001005471 OR2T6 EXON exm168156 1 248551174 [A/G] NM_001005471 OR2T6 EXON Missense_E89K exm168160 1 248551195 [A/G] NM_001005471 OR2T6 EXON Missense_A96T exm168162 1 248551204 [A/G] NM_001005471 OR2T6 EXON Missense_A99T exm168168 1 248551324 [T/C] NM_001005471 OR2T6 EXON Missense_R139W exm168170 1 248551346 [T/C] NM_001005471 OR2T6 EXON Missense_A146V exm168171 1 248551385 [T/C] NM_001005471 OR2T6 EXON Missense_L159P exm168179 1 248551598 [T/C] NM_001005471 OR2T6 EXON Missense_S230L exm168191 1 248551727 [T/A] NM_001005471 OR2T6 EXON Missense_V273D rs1538706 1 248552478 [T/C] exm168201 1 248569369 [A/G] NM_030904 OR2T1 EXON Missense_H25R rs28599722 1 248569369 [A/G] NM_030904 OR2T1 EXON Missense_H25R exm1773781 1 248569417 [T/C] NM_030904 OR2T1 EXON Missense_I41T indel.11251 1 248569594 [I/D] NM_030904 OR2T1 EXON exm168221 1 248569674 [A/G] NM_030904 OR2T1 EXON Missense_I127V exm168231 1 248569843 [T/C] NM_030904 OR2T1 EXON Missense_P183L exm168235 1 248569879 [T/C] NM_030904 OR2T1 EXON Missense_I195T exm168238 1 248569903 [G/C] NM_030904 OR2T1 EXON Missense_S203C exm168239 1 248569950 [T/C] NM_030904 OR2T1 EXON Missense_C219R exm168240 1 248569959 [T/C] NM_030904 OR2T1 EXON Missense_R222W exm168241 1 248569960 [A/G] NM_030904 OR2T1 EXON Missense_R222Q exm168242 1 248569978 [T/C] NM_030904 OR2T1 EXON Missense_F228S variant.11253 1 248570103 [T/C] NM_030904 OR2T1 EXON Nonsense_R270X exm168250 1 248570218 [C/G] NM_030904 OR2T1 EXON Missense_T308S exm168251 1 248570223 [A/G] NM_030904 OR2T1 EXON Missense_M310V exm168262 1 248570383 [C/G] NM_030904 OR2T1 EXON Missense_R363T rs6587472 1 248577691 [T/C] rs6587475 1 248578622 [T/C] exm168277 1 248616236 [A/G] NM_001004136 OR2T2 EXON Missense_M46I exm168290 1 248616418 [A/C] NM_001004136 OR2T2 EXON Missense_T107N indel.11263 1 248637127 [I/D] NM_001005495 OR2T3 EXON exm168393 1 248637394 [T/C] NM_001005495 OR2T3 EXON Missense_S248F exm168423 1 248652037 [A/G] NM_001004697 OR2T5 EXON Missense_I50V exm168441 1 248684976 [A/G] NM_001013355 OR2G6 EXON Missense_K10R indel.11266 1 248684995 [I/D] NM_001013355 OR2G6 EXON exm168448 1 248685089 [A/G] NM_001013355 OR2G6 EXON Missense_V48I indel.11268 1 248685129 [D/I] NM_001013355 OR2G6 EXON exm168453 1 248685155 [G/C] NM_001013355 OR2G6 EXON Missense_D70H exm168455 1 248685174 [G/C] NM_001013355 OR2G6 EXON Missense_S76T indel.11269 1 248685206 [I/D] NM_001013355 OR2G6 EXON exm168463 1 248685260 [A/C] NM_001013355 OR2G6 EXON Missense_M105L exm168465 1 248685267 [A/T] NM_001013355 OR2G6 EXON Nonsense_L107X exm1773874 1 248685372 [T/C] NM_001013355 OR2G6 EXON Missense_A142V exm168482 1 248685383 [A/G] NM_001013355 OR2G6 EXON Missense_G146S exm168485 1 248685421 [T/G] NM_001013355 OR2G6 EXON Missense_I158M exm168486 1 248685425 [T/G] NM_001013355 OR2G6 EXON Missense_C160G exm168495 1 248685535 [C/G] NM_001013355 OR2G6 EXON Missense_E196D indel.11273 1 248685545 [I/D] NM_001013355 OR2G6 EXON exm168497 1 248685590 [T/A] NM_001013355 OR2G6 EXON Missense_L215I exm168503 1 248685689 [A/G] NM_001013355 OR2G6 EXON Missense_V248I exm168504 1 248685719 [T/A] NM_001013355 OR2G6 EXON Missense_M258L indel.11274 1 248685766 [D/I] NM_001013355 OR2G6 EXON indel.11275 1 248685789 [D/I] NM_001013355 OR2G6 EXON exm168513 1 248685858 [T/C] NM_001013355 OR2G6 EXON Missense_L304P rs10158713 1 248687952 [T/C] rs28610409 1 248688317 [T/C] exm168627 1 248738001 [T/A] NM_001001821 OR2T34 EXON Missense_T20S indel.11279 1 248756290 [D/I] NM_001004693 OR2T10 EXON exm168726 1 248801588 [T/C] NM_001001827 OR2T35 EXON Synonymous_X324X exm168734 1 248801719 [A/G] NM_001001827 OR2T35 EXON Missense_L281F indel.11294 1 248801792 [D/I] NM_001001827 OR2T35 EXON indel.11296 1 248802069 [I/D] NM_001001827 OR2T35 EXON exm168760 1 248802243 [T/G] NM_001001827 OR2T35 EXON Missense_T106N exm2233001 1 248813257 [T/G] NM_001001824 OR2T27 EXON Missense_S310Y indel.11299 1 248813267 [D/I] NM_001001824 OR2T27 EXON exm168804 1 248813498 [T/C] NM_001001824 OR2T27 EXON Missense_E230K rs2154333 1 248843314 [T/C] indel.11307 1 248844692 [I/D] NM_001004734 OR14I1 EXON exm168876 1 248844695 [T/A] NM_001004734 OR14I1 EXON Missense_V304E exm168878 1 248844711 [T/C] NM_001004734 OR14I1 EXON Missense_M299V exm168885 1 248844851 [A/G] NM_001004734 OR14I1 EXON Missense_T252I exm168887 1 248844915 [T/C] NM_001004734 OR14I1 EXON Missense_S231G var_1_248844954 1 248844954 [A/G] NM_001004734 OR14I1 EXON Nonsense_Q218X exm168894 1 248844959 [T/C] NM_001004734 OR14I1 EXON Missense_Y216C exm168898 1 248845062 [T/C] NM_001004734 OR14I1 EXON Missense_V182M exm168903 1 248845097 [T/C] NM_001004734 OR14I1 EXON Missense_S170N exm168904 1 248845110 [T/C] NM_001004734 OR14I1 EXON Missense_V166I exm168913 1 248845241 [A/G] NM_001004734 OR14I1 EXON Missense_V122A exm168920 1 248845356 [T/G] NM_001004734 OR14I1 EXON Missense_L84M exm168921 1 248845364 [T/C] NM_001004734 OR14I1 EXON Missense_R81H indel.11309 1 248845378 [I/D] NM_001004734 OR14I1 EXON exm2233005 1 248845396 [T/G] NM_001004734 OR14I1 EXON Nonsense_C70X exm168925 1 248845458 [T/C] NM_001004734 OR14I1 EXON Missense_D50N exm168927 1 248845463 [T/G] NM_001004734 OR14I1 EXON Missense_T48N exm168930 1 248845475 [A/G] NM_001004734 OR14I1 EXON Missense_I44T exm168933 1 248845499 [A/G] NM_001004734 OR14I1 EXON Missense_V36A exm168934 1 248845527 [T/C] NM_001004734 OR14I1 EXON Missense_G27R variant.11310 1 248845549 [T/C] NM_001004734 OR14I1 EXON Nonsense_W19X rs6600755 1 248862517 [T/C] rs6660717 1 248884940 [T/G] rs35358165 1 248900100 [A/G] kgp4176549 1 248901933 [T/C] kgp15198234 1 248902716 [T/C] rs7532941 1 249066372 [T/C] rs12748771 1 249068929 [T/C] rs6683472 1 249075377 [T/G] rs11205399 1 249077807 [A/G] rs4926506 1 249081330 [A/G] rs12095162 1 249085689 [A/C] rs4539172 1 249089971 [T/G] rs4307600 1 249105163 [T/C] NM_001322462,NM_001322464,NM_030645,NM_001322463 SH3BP5L,SH3BP5L,SH3BP5L,SH3BP5L EXON Silent,Silent,Silent,Silent exm168941 1 249106353 [T/C] NM_001322462,NM_001322464,NM_030645,NM_001322463 SH3BP5L,SH3BP5L,SH3BP5L,SH3BP5L EXON Missense_G191R,Missense_G143R,Missense_G310R,Missense_G191R exm168954 1 249107252 [T/C] NM_001322462,NM_001322464,NM_030645,NM_001322463 SH3BP5L,SH3BP5L,SH3BP5L,SH3BP5L EXON Missense_R97Q,Missense_R49Q,Missense_R216Q,Missense_R97Q exm168958 1 249107304 [A/G] NM_001322462,NM_001322464,NM_030645,NM_001322463 SH3BP5L,SH3BP5L,SH3BP5L,SH3BP5L EXON Missense_R80W,Missense_R32W,Missense_R199W,Missense_R80W exm168985 1 249111082 [T/C] NM_001322462,NM_001322464,NM_030645,NM_001322463 SH3BP5L,SH3BP5L,SH3BP5L,SH3BP5L EXON Silent,Silent,Missense_E62G,Silent indel.11313 1 249118969 [I/D] NM_001322462,NM_001322464,NM_030645,NM_001322463 SH3BP5L,SH3BP5L,SH3BP5L,SH3BP5L EXON rs12029054 1 249121038 [A/C] rs6695844 1 249128708 [A/G] rs11205428 1 249136658 [T/C] NM_024836 ZNF672 Silent exm169024 1 249142239 [T/G] NM_024836 ZNF672 EXON Missense_A256S exm169027 1 249142320 [T/C] NM_024836 ZNF672 EXON Missense_H283Y exm169033 1 249142362 [A/G] NM_024836 ZNF672 EXON Missense_D297N exm169064 1 249144696 [T/G] NM_017865,NM_001193328,NM_001136036,NM_001350072,NM_001350073 ZNF692,ZNF692,ZNF692,ZNF692,ZNF692 EXON Missense_T425P,Missense_T380P,Missense_T430P,Missense_T424P,Missense_T221P exm1774186 1 249144933 [T/C] NM_017865,NM_001193328,NM_001136036,NM_001350072,NM_001350073 ZNF692,ZNF692,ZNF692,ZNF692,ZNF692 EXON Missense_S401G,Missense_S356G,Missense_S406G,Missense_S400G,Missense_S197G exm169074 1 249149589 [T/C] NM_017865,NM_001193328,NM_001136036,NM_001350072,NM_001350073 ZNF692,ZNF692,ZNF692,ZNF692,ZNF692 EXON Missense_Q343R,Missense_Q298R,Missense_Q348R,Missense_Q342R,Missense_Q139R exm169075 1 249149592 [T/C] NM_017865,NM_001193328,NM_001136036,NM_001350072,NM_001350073 ZNF692,ZNF692,ZNF692,ZNF692,ZNF692 EXON Missense_R342Q,Missense_R297Q,Missense_R347Q,Missense_R341Q,Missense_R138Q exm169079 1 249149802 [A/G] NM_017865,NM_001193328,NM_001136036,NM_001350072,NM_001350073 ZNF692,ZNF692,ZNF692,ZNF692,ZNF692 EXON Missense_P305L,Missense_P260L,Missense_P310L,Missense_P304L,Missense_P101L exm169085 1 249150038 [A/G] NM_017865,NM_001193328,NM_001136036,NM_001350072,NM_001350073 ZNF692,ZNF692,ZNF692,ZNF692,ZNF692 EXON Missense_P256L,Missense_P211L,Missense_P261L,Missense_P255L,Missense_P52L exm169091 1 249150129 [A/G] NM_017865,NM_001193328,NM_001136036,NM_001350072,NM_001350073 ZNF692,ZNF692,ZNF692,ZNF692,ZNF692 EXON Missense_P226S,Missense_P181S,Missense_P231S,Missense_P225S,Missense_P22S exm169097 1 249150486 [T/C] NM_017865,NM_001193328,NM_001136036,NM_001350072,NM_001350073 ZNF692,ZNF692,ZNF692,ZNF692,ZNF692 Silent,Silent,Silent,Silent,Silent variant.11323 1 249150575 [A/C] NM_017865,NM_001193328,NM_001136036,NM_001350072,NM_001350073 ZNF692,ZNF692,ZNF692,ZNF692,ZNF692 EXON Nonsense_E191X,Silent,Nonsense_E196X,Nonsense_E191X,Silent exm1774198 1 249150577 [T/C] NM_017865,NM_001193328,NM_001136036,NM_001350072,NM_001350073 ZNF692,ZNF692,ZNF692,ZNF692,ZNF692 EXON Missense_E190G,Silent,Missense_E195G,Missense_E190G,Silent exm169102 1 249150726 [T/C] NM_017865,NM_001193328,NM_001136036,NM_001350072,NM_001350073 ZNF692,ZNF692,ZNF692,ZNF692,ZNF692 EXON Missense_A171T,Missense_A171T,Missense_A176T,Missense_A171T,Silent exm1774204 1 249151442 [T/C] NM_017865,NM_001193328,NM_001136036,NM_001350072,NM_001350073 ZNF692,ZNF692,ZNF692,ZNF692,ZNF692 EXON Missense_E156K,Missense_E156K,Missense_E161K,Missense_E156K,Silent exm169107 1 249151478 [A/G] NM_017865,NM_001193328,NM_001136036,NM_001350072,NM_001350073 ZNF692,ZNF692,ZNF692,ZNF692,ZNF692 EXON Missense_R144W,Missense_R144W,Missense_R149W,Missense_R144W,Silent exm169113 1 249151681 [C/G] NM_017865,NM_001193328,NM_001136036,NM_001350072,NM_001350073 ZNF692,ZNF692,ZNF692,ZNF692,ZNF692 EXON Missense_P76R,Missense_P76R,Missense_P81R,Missense_P76R,Silent exm1774211 1 249152495 [A/G] NM_017865,NM_001193328,NM_001136036,NM_001350072,NM_001350073 ZNF692,ZNF692,ZNF692,ZNF692,ZNF692 EXON Missense_P5L,Missense_P5L,Missense_P10L,Missense_P5L,Silent rs10157709 1 249154567 [T/C] rs6678579 1 249162263 [A/G] rs10788875 1 249170711 [T/G] rs12043282 1 249179856 [T/C] rs6587761 1 249198060 [A/G] exm169139 1 249210835 [T/G] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_V18L,Silent exm169149 1 249211096 [A/G] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_V105I,Silent exm169152 1 249211157 [A/C] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_T125N,Silent variant.11327 1 249211282 [T/C] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Nonsense_Q167X,Silent exm169164 1 249211516 [G/C] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_V245L,Silent exm169173 1 249211618 [T/C] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_R279W,Missense_R28W exm169174 1 249211619 [A/G] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_R279Q,Missense_R28Q exm169186 1 249211903 [A/G] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_V374I,Missense_V123I exm169193 1 249212113 [T/C] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_R444W,Missense_R193W exm169195 1 249212120 [A/G] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_Q446R,Missense_Q195R exm169197 1 249212170 [A/G] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_V463I,Missense_V212I variant.11331 1 249212215 [T/C] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Nonsense_R478X,Nonsense_R227X exm169206 1 249212393 [A/G] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_R537Q,Missense_R286Q exm169207 1 249212402 [A/G] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_R540Q,Missense_R289Q exm169208 1 249212429 [T/C] NM_170725,NM_001017434 PGBD2,PGBD2 EXON Missense_M549T,Missense_M298T rs10904494 10 113934 [A/C] rs10904561 10 135656 [T/G] rs7917054 10 135708 [A/G] rs7906287 10 135853 [A/G] rs11594819 10 162102 [A/C] rs7089889 10 178434 [T/G] rs12146291 10 188805 [A/G] NM_006624,NM_212479,NM_001202466,NM_001202465,NM_001330057,NM_001202464 ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11 Silent,Silent,Silent,Silent,Silent,Silent rs10903451 10 203471 [A/G] NM_006624,NM_212479,NM_001202466,NM_001202465,NM_001330057,NM_001202464 ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11 Silent,Silent,Silent,Silent,Silent,Silent rs2379078 10 252693 [T/C] NM_006624,NM_212479,NM_001202466,NM_001202465,NM_001330057,NM_001202464,NM_001202468,NM_001202467 ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2448378 10 273344 [A/C] NM_006624,NM_212479,NM_001202466,NM_001202465,NM_001330057,NM_001202464,NM_001202468,NM_001202467 ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2496278 10 279248 [A/C] NM_006624,NM_212479,NM_001202466,NM_001202465,NM_001330057,NM_001202464,NM_001202468,NM_001202467 ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10508201 10 291134 [T/C] NM_006624,NM_212479,NM_001202466,NM_001202465,NM_001330057,NM_001202464,NM_001202468,NM_001202467 ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm804986 10 293358 [A/C] NM_006624,NM_212479,NM_001202466,NM_001202465,NM_001330057,NM_001202464,NM_001202468,NM_001202467 ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11 EXON Synonymous_P393P,Synonymous_P392P,Synonymous_P338P,Synonymous_P308P,Synonymous_P376P,Synonymous_P339P,Synonymous_P393P,Synonymous_P339P exm2249181 10 293358 [A/C] NM_006624,NM_212479,NM_001202466,NM_001202465,NM_001330057,NM_001202464,NM_001202468,NM_001202467 ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11,ZMYND11 EXON Synonymous_P393P,Synonymous_P392P,Synonymous_P338P,Synonymous_P308P,Synonymous_P376P,Synonymous_P339P,Synonymous_P393P,Synonymous_P339P rs4880568 10 313504 [T/C] rs2018975 10 317501 [T/C] rs3740304 10 323283 [A/G] NM_014974 DIP2C EXON Synonymous_Y1551Y rs3125027 10 326894 [T/C] NM_014974 DIP2C Silent exm805022 10 327162 [T/C] NM_014974 DIP2C EXON Missense_A1466T rs3815985 10 329493 [A/C] NM_014974 DIP2C Silent rs3125031 10 338553 [T/C] NM_014974 DIP2C Silent rs35198327 10 354301 [T/C] NM_014974 DIP2C Silent newrs34415250 10 370853 [I/D] NM_014974 DIP2C variant.11341 10 375475 [T/C] NM_014974 DIP2C EXON Nonsense_W1217X rs7070654 10 377161 [T/C] NM_014974 DIP2C Silent rs7904155 10 387060 [A/G] NM_014974 DIP2C Silent exm805090 10 390962 [A/G] NM_014974 DIP2C EXON Missense_T1107M exm805091 10 390983 [A/G] NM_014974 DIP2C EXON Missense_A1100V exm805105 10 394615 [A/G] NM_014974 DIP2C EXON Missense_A1066V exm805131 10 402390 [G/C] NM_014974 DIP2C EXON Missense_I987M exm805136 10 403792 [G/C] NM_014974 DIP2C EXON Missense_I960M exm805156 10 410386 [T/C] NM_014974 DIP2C EXON Missense_R802H exm805166 10 410501 [T/C] NM_014974 DIP2C EXON Missense_G764R rs9787422 10 413010 [T/C] NM_014974 DIP2C Silent rs12245012 10 423555 [A/G] NM_014974 DIP2C Silent rs10904067 10 423671 [T/C] NM_014974 DIP2C Silent rs7092412 10 429932 [T/C] NM_014974 DIP2C Silent exm2271240 10 431161 [T/C] NM_014974 DIP2C Silent exm2249233 10 435971 [T/C] NM_014974 DIP2C EXON Synonymous_T519T exm805212 10 435971 [T/C] NM_014974 DIP2C EXON Synonymous_T519T exm805214 10 435990 [A/G] NM_014974 DIP2C EXON Missense_T513M rs4881254 10 453567 [T/C] NM_014974 DIP2C Silent rs10904173 10 462885 [A/G] NM_014974 DIP2C Silent exm805254 10 465046 [A/G] NM_014974 DIP2C EXON Missense_A233V rs12415961 10 468599 [T/C] NM_014974 DIP2C Silent rs10736988 10 478453 [T/C] NM_014974 DIP2C Silent exm805280 10 486935 [G/C] NM_014974 DIP2C EXON Missense_D90E rs4881313 10 487973 [T/C] NM_014974 DIP2C Silent exm2271370 10 521431 [T/C] NM_014974 DIP2C Silent rs4881336 10 521723 [T/C] NM_014974 DIP2C Silent rs816599 10 547567 [A/G] NM_014974 DIP2C Silent rs12251997 10 554186 [T/C] NM_014974 DIP2C Silent rs7071018 10 555514 [T/C] NM_014974 DIP2C Silent rs10466270 10 556129 [A/G] NM_014974 DIP2C Silent rs11252926 10 566379 [T/C] NM_014974 DIP2C Silent rs10904450 10 588406 [A/G] NM_014974 DIP2C Silent rs816646 10 592283 [A/G] NM_014974 DIP2C Silent rs816650 10 601089 [T/C] NM_014974 DIP2C Silent rs17221309 10 615782 [A/G] NM_014974 DIP2C Silent rs7069611 10 635857 [T/C] NM_014974 DIP2C Silent rs2386709 10 662193 [A/C] NM_014974 DIP2C Silent rs7898821 10 669358 [A/G] NM_014974 DIP2C Silent rs816563 10 673037 [T/C] NM_014974 DIP2C Silent rs2124585 10 680428 [A/G] NM_014974 DIP2C Silent rs17136372 10 712617 [A/C] NM_014974 DIP2C Silent rs1750792 10 738630 [T/C] rs553326 10 749238 [T/G] rs2265090 10 754033 [A/C] rs10904546 10 757222 [A/G] rs7906313 10 766105 [T/C] rs11253377 10 776027 [T/C] rs943204 10 776544 [A/G] rs1769242 10 787896 [T/C] rs2254501 10 800213 [A/G] rs1769215 10 802445 [T/C] rs2790381 10 803721 [T/C] rs12414585 10 811876 [A/G] rs11253424 10 813426 [T/C] rs7084027 10 815149 [A/G] rs10752019 10 820868 [T/C] exm2271241 10 833528 [T/G] rs4881530 10 834736 [A/G] rs11253444 10 836115 [A/G] rs1536337 10 838179 [T/C] rs1057304 10 853106 [T/C] NM_001351277,NM_015155 LARP4B,LARP4B EXON Silent,Silent rs9124 10 858022 [T/C] NM_001351277,NM_015155 LARP4B,LARP4B EXON Silent,Silent rs7703 10 858394 [T/C] NM_001351277,NM_015155 LARP4B,LARP4B EXON Silent,Silent exm805329 10 858924 [A/G] NM_001351277,NM_015155 LARP4B,LARP4B EXON Missense_S755L,Missense_S720L exm805338 10 859047 [A/C] NM_001351277,NM_015155 LARP4B,LARP4B EXON Missense_C714F,Missense_C679F exm805350 10 860687 [T/C] NM_001351277,NM_015155 LARP4B,LARP4B EXON Missense_A642T,Missense_A642T exm805354 10 860726 [T/C] NM_001351277,NM_015155 LARP4B,LARP4B EXON Missense_T629A,Missense_T629A exm805360 10 860970 [A/G] NM_001351277,NM_015155 LARP4B,LARP4B EXON Missense_V579A,Missense_V579A exm805378 10 871110 [G/C] NM_001351277,NM_015155 LARP4B,LARP4B EXON Missense_T460S,Missense_T460S exm805386 10 871746 [A/G] NM_001351277,NM_015155 LARP4B,LARP4B EXON Missense_A397V,Missense_A397V exm805392 10 875350 [A/G] NM_001351277,NM_015155 LARP4B,LARP4B EXON Missense_T367M,Missense_T367M exm805400 10 888899 [T/C] NM_001351277,NM_015155 LARP4B,LARP4B EXON Missense_V207M,Missense_V207M exm805401 10 888916 [T/C] NM_001351277,NM_015155 LARP4B,LARP4B EXON Missense_K201R,Missense_K201R rs12249828 10 894838 [T/C] NM_001351277,NM_015155 LARP4B,LARP4B Silent,Silent rs11253471 10 903950 [A/G] NM_001351277,NM_015155 LARP4B,LARP4B Silent,Silent exm805413 10 909757 [A/G] NM_001351277,NM_015155 LARP4B,LARP4B EXON Missense_S119L,Missense_S119L exm805415 10 909766 [A/G] NM_001351277,NM_015155 LARP4B,LARP4B EXON Missense_P116L,Missense_P116L exm805420 10 910074 [T/C] NM_001351277,NM_015155 LARP4B,LARP4B EXON Missense_R93H,Missense_R93H exm805421 10 910081 [T/C] NM_001351277,NM_015155 LARP4B,LARP4B EXON Missense_A91T,Missense_A91T rs11253489 10 927331 [A/G] NM_001351277,NM_015155 LARP4B,LARP4B Silent,Silent exm805430 10 931618 [A/G] NM_001351277,NM_015155 LARP4B,LARP4B EXON Missense_T15M,Missense_T15M exm805431 10 931631 [T/C] NM_001351277,NM_015155 LARP4B,LARP4B EXON Missense_A11T,Missense_A11T rs7077992 10 944496 [A/C] NM_001351277,NM_015155 LARP4B,LARP4B Silent,Silent rs12259338 10 969377 [T/C] NM_001351277,NM_015155 LARP4B,LARP4B Silent,Silent rs10904588 10 991737 [A/G] rs6560863 10 1013535 [A/C] rs7094905 10 1015247 [T/G] rs11253543 10 1017325 [A/C] exm2216580 10 1034433 [A/G] NM_012341 GTPBP4 EXON Missense_N5S exm805440 10 1034457 [G/C] NM_012341 GTPBP4 EXON Missense_P13R exm805444 10 1038440 [A/C] NM_012341 GTPBP4 EXON Missense_D20E exm805447 10 1038477 [A/G] NM_012341 GTPBP4 EXON Missense_V33I exm805460 10 1042148 [C/G] NM_012341 GTPBP4 EXON Missense_K142N exm805465 10 1043174 [A/G] NM_012341 GTPBP4 EXON Missense_T163A exm805473 10 1045035 [A/G] NM_012341 GTPBP4 EXON Synonymous_Q218Q exm805480 10 1046705 [A/G] NM_012341 GTPBP4 EXON Missense_R248H exm805492 10 1046935 [A/T] NM_012341 GTPBP4 EXON Missense_E298D rs11253561 10 1047790 [A/G] NM_012341 GTPBP4 Silent rs12415759 10 1050754 [A/G] NM_012341 GTPBP4 Silent exm805495 10 1051758 [A/G] NM_012341 GTPBP4 EXON Missense_K305E exm805500 10 1052983 [A/G] NM_012341 GTPBP4 EXON Missense_R343Q exm805502 10 1053004 [A/G] NM_012341 GTPBP4 EXON Missense_G350E exm805506 10 1053067 [A/C] NM_012341 GTPBP4 EXON Missense_K371T exm805511 10 1054898 [A/G] NM_012341 GTPBP4 EXON Missense_E372K exm805515 10 1054946 [A/G] NM_012341 GTPBP4 EXON Missense_M388V exm805523 10 1058406 [A/G] NM_012341 GTPBP4 EXON Missense_K449R exm805527 10 1058534 [A/C] NM_012341 GTPBP4 EXON Missense_K492Q variant.11353 10 1058604 [T/C] NM_012341 GTPBP4 Silent rs2306404 10 1058837 [T/G] NM_012341 GTPBP4 Silent exm805536 10 1060218 [A/G] NM_012341 GTPBP4 EXON Missense_R525H exm805549 10 1061765 [G/C] NM_012341 GTPBP4 EXON Missense_P561A exm805554 10 1061836 [A/G] NM_012341 GTPBP4 EXON Synonymous_K584K exm805556 10 1063015 [T/A] NM_012341 GTPBP4 EXON Missense_M585L exm805558 10 1063038 [C/G] NM_012341 GTPBP4 EXON Missense_M592I rs17221491 10 1065191 [A/G] NM_033261 IDI2 EXON Silent exm805577 10 1065603 [A/G] NM_033261 IDI2 EXON Missense_W180R exm805582 10 1065710 [T/C] NM_033261 IDI2 EXON Nonsense_W144X exm805583 10 1065722 [G/C] NM_033261 IDI2 EXON Nonsense_S140X exm2249023 10 1066710 [T/C] NM_033261 IDI2 EXON Synonymous_E121E exm805588 10 1066743 [A/C] NM_033261 IDI2 EXON Missense_R110S 1KG_10_1066786 10 1066786 [D/I] NM_033261 IDI2 EXON exm805594 10 1066823 [A/G] NM_033261 IDI2 EXON Missense_S84P variant.11361 10 1066839 [T/C] NM_033261 IDI2 Silent variant.11362 10 1068623 [T/C] NM_033261,NR_024628,NR_027708,NR_024629,NR_027709 IDI2,IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1 EXON Missense_G79R,Silent,Silent,Silent,Silent rs3750729 10 1068802 [A/G] NM_033261,NR_024628,NR_027708,NR_024629,NR_027709 IDI2,IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1 Silent,Silent,Silent,Silent,Silent exm805605 10 1070548 [T/C] NM_033261,NR_024628,NR_027708,NR_024629,NR_027709 IDI2,IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1 EXON Missense_C39Y,Silent,Silent,Silent,Silent exm2216683 10 1070617 [T/C] NM_033261,NR_024628,NR_027708,NR_024629,NR_027709 IDI2,IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1 EXON Missense_R16H,Silent,Silent,Silent,Silent exm805609 10 1070618 [A/G] NM_033261,NR_024628,NR_027708,NR_024629,NR_027709 IDI2,IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1 EXON Missense_R16C,Silent,Silent,Silent,Silent exm805610 10 1070621 [A/G] NM_033261,NR_024628,NR_027708,NR_024629,NR_027709 IDI2,IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1 EXON Nonsense_Q15X,Silent,Silent,Silent,Silent rs11250227 10 1074710 [A/C] NR_024628,NR_027708,NR_024629,NR_027709 IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1 Silent,Silent,Silent,Silent rs12762955 10 1078782 [A/C] NR_024628,NR_027708,NR_024629,NR_027709 IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1 Silent,Silent,Silent,Silent rs3793781 10 1081293 [T/G] NR_024628,NR_027708,NR_024629,NR_027709 IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1 EXON Silent,Silent,Silent,Silent exm805618 10 1087257 [T/G] NR_024628,NR_027708,NR_024629,NR_027709,NM_001317955,NM_001317956,NR_134300,NR_134301,NM_004508,NM_001317957 IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI1,IDI1,IDI1,IDI1,IDI1,IDI1 EXON Silent,Silent,Silent,Silent,Missense_K186T,Missense_K186T,Silent,Silent,Missense_K242T,Missense_K156T rs12768746 10 1087551 [T/C] NR_024628,NR_027708,NR_024629,NR_027709,NM_001317955,NM_001317956,NR_134300,NR_134301,NM_004508,NM_001317957 IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI1,IDI1,IDI1,IDI1,IDI1,IDI1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm805627 10 1088647 [G/C] NR_024628,NR_027708,NR_024629,NR_027709,NM_001317955,NM_001317956,NR_134300,NR_134301,NM_004508,NM_001317957 IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI1,IDI1,IDI1,IDI1,IDI1,IDI1 EXON Silent,Silent,Silent,Silent,Missense_E98D,Missense_E98D,Silent,Silent,Missense_E154D,Missense_E68D variant.11367 10 1089322 [A/G] NR_024628,NR_027708,NR_024629,NR_027709,NM_001317955,NM_001317956,NR_134300,NR_134301,NM_004508,NM_001317957 IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI2-AS1,IDI1,IDI1,IDI1,IDI1,IDI1,IDI1 EXON Silent,Silent,Silent,Silent,Nonsense_R53X,Nonsense_R53X,Silent,Silent,Nonsense_R109X,Nonsense_R23X exm805645 10 1094831 [A/G] NM_001317955,NR_134300,NR_134301,NM_004508 IDI1,IDI1,IDI1,IDI1 EXON Silent,Silent,Silent,Missense_A38V rs12359250 10 1096538 [A/C] NM_001317955,NR_134300 IDI1,IDI1 Silent,Silent rs7100196 10 1096932 [A/G] NM_001317955,NR_134300 IDI1,IDI1 Silent,Silent rs11250242 10 1100064 [A/C] NM_001317955,NR_134300 IDI1,IDI1 Silent,Silent rs2387217 10 1116671 [A/G] NM_014023 WDR37 Silent rs10508203 10 1119203 [A/G] NM_014023 WDR37 Silent exm805658 10 1123920 [A/G] NM_014023 WDR37 EXON Missense_N71S rs7074721 10 1128216 [A/G] NM_014023 WDR37 Silent exm805674 10 1130477 [T/C] NM_014023 WDR37 EXON Synonymous_A177A exm805676 10 1132232 [T/C] NM_014023 WDR37 EXON Missense_T180M rs10159718 10 1139183 [A/G] NM_014023 WDR37 Silent rs3816735 10 1141749 [A/G] NM_014023 WDR37 Silent rs12784270 10 1143827 [T/C] NM_014023 WDR37 Silent rs7067536 10 1144049 [T/C] NM_014023 WDR37 Silent exm805700 10 1149690 [T/G] NM_014023 WDR37 EXON Missense_G292V exm805709 10 1151138 [T/C] NM_014023 WDR37 EXON Missense_T345M exm-rs10794720 10 1156165 [T/C] NM_014023 WDR37 Silent rs11250268 10 1159566 [A/C] NM_014023 WDR37 Silent rs1871626 10 1166400 [T/C] NM_014023 WDR37 Silent exm805712 10 1170158 [T/C] NM_014023 WDR37 EXON Synonymous_D368D exm805715 10 1170220 [T/C] NM_014023 WDR37 EXON Missense_T389M rs7924182 10 1179519 [A/G] rs11250283 10 1183739 [T/C] rs7078278 10 1192011 [A/G] rs4310544 10 1195959 [T/C] rs10903382 10 1199313 [A/C] rs1876899 10 1200445 [A/C] rs12570526 10 1205850 [A/G] NR_015376 LINC00200 EXON Silent rs10903387 10 1207809 [A/G] NR_015376 LINC00200 Silent exm2266952 10 1207809 [A/G] NR_015376 LINC00200 Silent rs10903395 10 1216861 [A/G] rs12771555 10 1219013 [A/G] rs1500966 10 1224459 [T/C] NM_018702 ADARB2 EXON Silent rs4880484 10 1226944 [T/C] NM_018702 ADARB2 EXON Silent rs904960 10 1229009 [A/G] NM_018702 ADARB2 EXON Silent exm805776 10 1229282 [T/C] NM_018702 ADARB2 EXON Missense_D691N exm805783 10 1230814 [T/C] NM_018702 ADARB2 EXON Missense_R677Q exm805786 10 1230824 [A/G] NM_018702 ADARB2 EXON Missense_R674W exm805788 10 1230874 [T/C] NM_018702 ADARB2 EXON Missense_R657Q exm805796 10 1230952 [A/G] NM_018702 ADARB2 EXON Missense_P631L exm805798 10 1230959 [A/G] NM_018702 ADARB2 EXON Missense_R629C rs2271275 10 1230968 [T/C] NM_018702 ADARB2 EXON Missense_A626T exm805800 10 1230968 [T/C] NM_018702 ADARB2 EXON Missense_A626T rs7099511 10 1240966 [A/G] NM_018702 ADARB2 Silent exm805809 10 1245930 [A/G] NM_018702 ADARB2 EXON Missense_R614W rs4880487 10 1246883 [T/C] NM_018702 ADARB2 Silent rs883248 10 1250184 [T/C] NM_018702 ADARB2 Silent rs17156103 10 1256559 [T/G] NM_018702 ADARB2 Silent rs3817043 10 1256632 [T/C] NM_018702 ADARB2 Silent rs2387308 10 1259485 [A/G] NM_018702 ADARB2 Silent exm805826 10 1262895 [T/C] NM_018702 ADARB2 EXON Missense_A560T exm805839 10 1263039 [T/C] NM_018702 ADARB2 EXON Missense_V512I rs4880491 10 1275314 [A/G] NM_018702 ADARB2 Silent exm805845 10 1279672 [T/C] NM_018702 ADARB2 EXON Missense_A493T exm805847 10 1279718 [C/G] NM_018702 ADARB2 EXON Missense_E477D exm1674299 10 1279752 [A/G] NM_018702 ADARB2 EXON Missense_V466A exm805849 10 1279753 [T/C] NM_018702 ADARB2 EXON Missense_V466M exm805854 10 1279779 [T/C] NM_018702 ADARB2 EXON Missense_R457H exm805856 10 1279782 [T/C] NM_018702 ADARB2 EXON Missense_R456Q rs4880802 10 1280409 [T/G] NM_018702 ADARB2 Silent exm805860 10 1284236 [A/G] NM_018702 ADARB2 EXON Missense_A440V exm805861 10 1284249 [T/C] NM_018702 ADARB2 EXON Missense_V436M exm805863 10 1284303 [T/C] NM_018702 ADARB2 EXON Missense_G418S exm805864 10 1284336 [T/C] NM_018702 ADARB2 EXON Missense_V407M rs7100111 10 1292991 [T/C] NM_018702 ADARB2 Silent rs6560721 10 1300253 [A/C] NM_018702 ADARB2 Silent rs11250372 10 1307456 [A/G] NM_018702 ADARB2 Silent rs4880494 10 1310657 [A/G] NM_018702 ADARB2 Silent exm805871 10 1313185 [T/C] NM_018702 ADARB2 EXON Missense_R386H rs2804102 10 1325411 [T/C] NM_018702 ADARB2 Silent rs3849975 10 1340620 [A/C] NM_018702 ADARB2 Silent rs11594721 10 1343198 [A/G] NM_018702 ADARB2 Silent rs2242423 10 1359774 [A/G] NM_018702 ADARB2 Silent rs884949 10 1371610 [A/C] NM_018702 ADARB2 Silent rs7084512 10 1376968 [A/G] NM_018702 ADARB2 Silent rs2892333 10 1396155 [T/C] NM_018702 ADARB2 Silent exm805889 10 1405407 [G/C] NM_018702 ADARB2 EXON Missense_P298R exm-rs11250464 10 1406364 [T/C] NM_018702 ADARB2 Silent rs2387653 10 1407826 [T/C] NM_018702 ADARB2 Silent rs4880833 10 1411713 [A/G] NM_018702 ADARB2 Silent exm2259557 10 1412238 [T/C] NM_018702 ADARB2 Silent rs2805504 10 1416754 [T/G] NM_018702 ADARB2 Silent exm805925 10 1421270 [A/G] NM_018702 ADARB2 EXON Synonymous_L62L exm805930 10 1421326 [T/C] NM_018702 ADARB2 EXON Missense_A44T rs2805509 10 1422950 [A/G] NM_018702 ADARB2 Silent rs11596049 10 1424216 [A/G] NM_018702 ADARB2 Silent rs17293789 10 1426013 [T/C] NM_018702 ADARB2 Silent rs4880842 10 1426303 [A/G] NM_018702 ADARB2 Silent rs2387667 10 1430761 [T/C] NM_018702 ADARB2 Silent rs2820590 10 1443016 [T/C] NM_018702 ADARB2 Silent rs2001197 10 1447951 [A/C] NM_018702 ADARB2 Silent rs17293817 10 1452786 [A/G] NM_018702 ADARB2 Silent rs2387673 10 1459379 [A/G] NM_018702 ADARB2 Silent rs2805535 10 1460432 [T/C] NM_018702 ADARB2 Silent exm-rs9787568 10 1462457 [T/C] NM_018702 ADARB2 Silent rs2805543 10 1464892 [T/C] NM_018702 ADARB2 Silent rs4448619 10 1468196 [T/C] NM_018702 ADARB2 Silent rs17156303 10 1468978 [A/G] NM_018702 ADARB2 Silent rs2820651 10 1471765 [A/C] NM_018702 ADARB2 Silent rs12267070 10 1478171 [A/C] NM_018702 ADARB2 Silent rs3898610 10 1484759 [T/C] NM_018702 ADARB2 Silent rs2820636 10 1500525 [A/G] NM_018702 ADARB2 Silent rs10903458 10 1503564 [A/G] NM_018702 ADARB2 Silent rs11250544 10 1507960 [A/G] NM_018702 ADARB2 Silent rs1533486 10 1511786 [T/G] NM_018702 ADARB2 Silent rs7906088 10 1518682 [T/C] NM_018702 ADARB2 Silent rs3849976 10 1519151 [A/G] NM_018702 ADARB2 Silent rs2176377 10 1524409 [A/C] NM_018702 ADARB2 Silent rs11817394 10 1535202 [T/C] NM_018702 ADARB2 Silent rs10903467 10 1535739 [T/C] NM_018702 ADARB2 Silent rs2676719 10 1549881 [A/G] NM_018702 ADARB2 Silent rs7905434 10 1567107 [A/G] NM_018702 ADARB2 Silent rs2813452 10 1567300 [T/C] NM_018702 ADARB2 Silent newrs75807159 10 1569095 [A/G] NM_018702,NR_033387 ADARB2,ADARB2-AS1 Silent,Silent rs2813458 10 1574443 [T/C] NM_018702,NR_033387 ADARB2,ADARB2-AS1 Silent,Silent rs10903470 10 1576292 [T/G] NM_018702,NR_033387 ADARB2,ADARB2-AS1 Silent,Silent rs7082213 10 1576738 [T/C] NM_018702,NR_033387 ADARB2,ADARB2-AS1 Silent,Silent rs2138692 10 1581728 [T/C] NM_018702,NR_033387 ADARB2,ADARB2-AS1 Silent,Silent rs2813352 10 1590256 [T/C] NM_018702,NR_033387,NR_152792 ADARB2,ADARB2-AS1,ADARB2-AS1 Silent,Silent,Silent rs11250609 10 1590440 [A/G] NM_018702,NR_033387,NR_152792 ADARB2,ADARB2-AS1,ADARB2-AS1 Silent,Silent,Silent rs11591776 10 1591562 [A/C] NM_018702,NR_033387,NR_152792 ADARB2,ADARB2-AS1,ADARB2-AS1 Silent,Silent,Silent rs4880867 10 1593558 [T/C] NM_018702,NR_033387,NR_152792 ADARB2,ADARB2-AS1,ADARB2-AS1 Silent,Silent,Silent rs10903486 10 1601316 [A/C] NM_018702 ADARB2 Silent rs4440958 10 1601900 [T/C] NM_018702 ADARB2 Silent rs7918979 10 1602635 [T/G] NM_018702 ADARB2 Silent rs12268030 10 1605715 [A/G] NM_018702 ADARB2 Silent rs10508212 10 1611107 [A/G] NM_018702 ADARB2 Silent rs2676760 10 1612952 [A/G] NM_018702 ADARB2 Silent rs1320077 10 1618731 [A/G] NM_018702 ADARB2 Silent rs6560740 10 1620356 [T/G] NM_018702 ADARB2 Silent rs10903496 10 1623734 [A/G] NM_018702 ADARB2 Silent rs10903497 10 1624900 [T/C] NM_018702 ADARB2 Silent exm-rs2999399 10 1630821 [T/C] NM_018702 ADARB2 Silent rs2676187 10 1637209 [T/C] NM_018702 ADARB2 Silent rs7903852 10 1639362 [A/G] NM_018702 ADARB2 Silent rs12778518 10 1644771 [T/G] NM_018702 ADARB2 Silent exm2249140 10 1654279 [T/C] NM_018702 ADARB2 Silent rs1874995 10 1657184 [T/C] NM_018702 ADARB2 Silent rs1875005 10 1661398 [T/C] NM_018702 ADARB2 Silent rs7077892 10 1663908 [A/C] NM_018702 ADARB2 Silent rs1909437 10 1664242 [A/G] NM_018702 ADARB2 Silent rs7086346 10 1665821 [A/G] NM_018702 ADARB2 Silent rs2387952 10 1667365 [A/G] NM_018702 ADARB2 Silent rs12572078 10 1669110 [T/C] NM_018702 ADARB2 Silent exm-rs6560749 10 1676531 [T/G] NM_018702 ADARB2 Silent rs10903516 10 1680786 [T/C] NM_018702 ADARB2 Silent rs11592943 10 1688405 [T/C] NM_018702 ADARB2 Silent rs17221916 10 1692147 [T/C] NM_018702 ADARB2 Silent rs10903534 10 1692663 [T/G] NM_018702 ADARB2 Silent rs7070710 10 1704555 [T/C] NM_018702 ADARB2 Silent rs1909428 10 1705247 [A/G] NM_018702 ADARB2 Silent rs7073160 10 1710677 [A/G] NM_018702 ADARB2 Silent rs12766674 10 1724276 [T/C] NM_018702 ADARB2 Silent rs11250727 10 1726719 [T/G] NM_018702 ADARB2 Silent rs7896371 10 1729026 [T/C] NM_018702 ADARB2 Silent rs11250736 10 1736783 [T/G] NM_018702 ADARB2 Silent rs2892394 10 1740278 [A/C] NM_018702 ADARB2 Silent rs1909433 10 1747923 [T/C] NM_018702 ADARB2 Silent rs17221972 10 1751710 [A/G] NM_018702 ADARB2 Silent rs12572345 10 1753115 [T/G] NM_018702 ADARB2 Silent rs9702737 10 1753194 [T/C] NM_018702 ADARB2 Silent rs17156784 10 1754189 [T/C] NM_018702 ADARB2 Silent rs4880535 10 1755177 [T/G] NM_018702 ADARB2 Silent rs11250757 10 1756440 [A/G] NM_018702 ADARB2 Silent rs866987 10 1758915 [A/C] NM_018702 ADARB2 Silent rs7907903 10 1765025 [T/G] NM_018702 ADARB2 Silent rs1316273 10 1774564 [A/G] NM_018702 ADARB2 Silent rs7070365 10 1792872 [A/G] rs6560768 10 1799598 [A/C] rs17156884 10 1804579 [T/C] rs11250778 10 1813242 [T/C] rs12570664 10 1816298 [A/G] rs11250783 10 1820854 [A/G] rs4076746 10 1830848 [T/C] rs17156958 10 1836223 [T/C] rs9633666 10 1836595 [T/G] rs7475202 10 1840995 [T/C] rs7070304 10 1847006 [A/G] rs12570407 10 1854773 [T/C] rs11250801 10 1855203 [T/C] rs10903564 10 1863720 [A/G] rs7912438 10 1874354 [T/C] rs4880539 10 1891815 [T/C] rs7893262 10 1895851 [A/G] rs11250832 10 1898716 [T/C] rs10508219 10 1899620 [A/G] rs4077784 10 1902429 [A/G] rs10903574 10 1904598 [T/C] rs4545463 10 1912306 [T/C] rs7084945 10 1921133 [T/C] rs7098283 10 1921530 [T/C] rs11250877 10 1923821 [T/G] rs11250880 10 1926697 [T/C] rs7088760 10 1926738 [T/C] rs7923512 10 1934068 [A/C] rs12354635 10 1934824 [A/G] rs10128131 10 1935402 [T/G] rs10794801 10 1948064 [A/G] rs11250907 10 1949101 [A/G] rs2039568 10 1953525 [A/G] rs2039566 10 1953826 [A/C] rs10903595 10 1959231 [T/C] rs10903596 10 1959367 [T/C] rs11592109 10 1963068 [T/C] rs1029182 10 1965937 [A/G] rs10794806 10 1970892 [A/G] rs10160165 10 1973370 [A/G] rs10903601 10 1975754 [T/C] rs915267 10 1976876 [A/G] rs7079003 10 1977135 [A/G] rs10903603 10 1981965 [T/G] rs11250938 10 1984431 [T/C] rs4362074 10 2000068 [T/C] rs2892403 10 2003368 [A/G] rs7912369 10 2005604 [A/G] rs12218258 10 2008013 [A/G] rs3763685 10 2015854 [A/C] rs11250972 10 2022323 [T/C] rs7915592 10 2027751 [T/C] rs1414129 10 2042174 [T/C] rs6560785 10 2051048 [T/C] NR_040253 LINC00700 Silent rs1414125 10 2055591 [A/C] NR_040253 LINC00700 EXON Silent rs7095469 10 2064234 [T/C] rs7911388 10 2067049 [A/G] rs17808220 10 2072663 [A/C] rs10430746 10 2073711 [T/C] rs10430747 10 2073927 [A/G] rs4880959 10 2078596 [A/G] rs7099247 10 2080271 [T/G] rs10794839 10 2086923 [A/G] exm2271243 10 2088596 [T/C] rs17235357 10 2091393 [A/C] rs17157580 10 2092920 [A/C] rs12266113 10 2093110 [T/C] rs11251024 10 2095726 [A/G] rs7902045 10 2098466 [A/C] rs4880970 10 2101561 [T/C] rs2388121 10 2104415 [A/G] rs7922880 10 2108579 [A/G] rs17155596 10 2113955 [A/G] rs11251048 10 2120407 [A/G] rs1333203 10 2131912 [T/G] rs7096214 10 2134606 [A/G] rs11251056 10 2136063 [T/G] rs10751841 10 2151354 [T/C] rs12776254 10 2154862 [A/G] rs7080520 10 2158398 [T/C] rs1412914 10 2165774 [T/C] rs7086965 10 2167778 [A/G] rs10903680 10 2173156 [T/C] rs7086382 10 2187737 [T/C] rs10159898 10 2188486 [T/C] rs7068690 10 2188538 [A/G] rs2095159 10 2197103 [T/G] rs10508223 10 2200068 [T/C] rs7918782 10 2204321 [T/C] rs17157802 10 2205704 [T/C] rs12413933 10 2222546 [T/C] rs10751855 10 2224013 [T/C] rs11251084 10 2226082 [A/G] rs2151358 10 2241511 [A/G] rs11597710 10 2256399 [T/C] rs1000416 10 2256731 [T/C] rs17157889 10 2265880 [T/C] rs10794877 10 2268247 [T/C] rs10794878 10 2268356 [T/G] rs10903712 10 2279963 [A/G] rs2014892 10 2281519 [T/C] rs7916063 10 2286495 [A/C] rs17241211 10 2287457 [T/C] rs2065528 10 2291574 [A/G] rs10903713 10 2292180 [A/G] rs10903714 10 2292684 [T/C] rs11251116 10 2292862 [A/C] rs7090855 10 2298593 [A/C] rs7919805 10 2301039 [A/C] rs7902955 10 2304940 [A/G] rs10903719 10 2305056 [T/C] rs12413244 10 2311002 [T/C] rs2148202 10 2326416 [T/C] rs4880991 10 2326564 [T/C] rs10903735 10 2332465 [T/C] rs12570296 10 2338198 [T/C] rs7904173 10 2338795 [T/C] rs7919956 10 2340038 [T/C] rs12412405 10 2343764 [T/C] NR_038884 LINC00701 EXON Silent exm2267072 10 2348123 [A/G] NR_038884 LINC00701 Silent rs10751867 10 2349064 [T/C] NR_038884 LINC00701 Silent rs10794901 10 2351551 [A/C] NR_038884 LINC00701 Silent rs7093387 10 2355384 [A/G] NR_038884 LINC00701 Silent rs12412942 10 2357702 [A/G] rs7099701 10 2363832 [A/C] rs11251166 10 2367939 [A/C] rs7087615 10 2373295 [T/C] rs11251170 10 2375069 [T/G] rs12784984 10 2375730 [A/G] rs7095513 10 2378501 [A/G] rs12779267 10 2387282 [A/G] rs10508230 10 2393152 [T/C] rs7084211 10 2405229 [T/C] rs826474 10 2408852 [A/G] rs12761358 10 2422803 [T/C] rs826489 10 2429307 [T/G] rs7895038 10 2432266 [T/C] rs10903756 10 2436043 [A/G] rs826482 10 2441593 [A/C] rs7069544 10 2445563 [A/G] rs2638450 10 2447002 [T/C] rs12262142 10 2463464 [A/C] rs10508236 10 2466713 [T/C] exm2271244 10 2466713 [T/C] rs10903766 10 2471961 [A/C] rs11251237 10 2472145 [T/C] rs7900071 10 2483585 [T/C] rs7910547 10 2488754 [T/C] NR_136146 LOC105376351 EXON Silent rs993651 10 2505690 [T/C] NR_136146 LOC105376351 Silent rs1388723 10 2511754 [T/C] NR_136146 LOC105376351 Silent rs9423540 10 2524045 [A/C] NR_136146 LOC105376351 Silent rs2458713 10 2530583 [A/G] NR_136146 LOC105376351 Silent rs9419446 10 2532247 [A/G] NR_136146 LOC105376351 Silent rs2452199 10 2537042 [A/G] NR_136146 LOC105376351 Silent rs10903784 10 2541943 [T/G] NR_136146 LOC105376351 Silent rs2458698 10 2548452 [T/C] rs1155447 10 2553240 [T/C] rs9329298 10 2557531 [A/G] rs1155134 10 2558675 [A/G] rs1388722 10 2559338 [A/G] rs9665581 10 2559558 [A/C] rs10903794 10 2571838 [T/C] rs11251339 10 2582917 [A/G] rs2388257 10 2584073 [T/C] rs10508237 10 2589776 [A/G] rs2388260 10 2590305 [A/G] rs11595982 10 2607487 [A/G] rs7918919 10 2616253 [A/C] rs2388287 10 2619314 [T/C] rs11251374 10 2621756 [A/G] rs2388252 10 2623568 [T/C] rs2388288 10 2627161 [A/G] rs11251391 10 2635105 [A/G] rs11251392 10 2635863 [T/C] rs11812571 10 2642800 [A/C] rs10794929 10 2653147 [T/C] rs7923950 10 2658796 [A/C] rs6601797 10 2661196 [A/G] rs11598665 10 2662611 [A/G] rs7080305 10 2666834 [A/G] rs17158714 10 2672202 [A/G] rs10903834 10 2676299 [A/G] rs7900654 10 2679240 [T/C] rs7899257 10 2695158 [A/G] rs2068455 10 2697071 [A/G] rs17158770 10 2703572 [T/C] rs7072489 10 2704059 [T/C] rs7072084 10 2706717 [T/C] rs10903840 10 2707468 [T/C] rs7893477 10 2711041 [A/G] rs884289 10 2714749 [A/G] rs12764543 10 2720453 [T/C] rs10794936 10 2731235 [A/C] rs6601863 10 2739606 [T/C] rs7920763 10 2740608 [A/G] rs11592580 10 2744038 [T/C] rs17158867 10 2746308 [T/C] rs7909413 10 2749234 [T/C] rs11251440 10 2749491 [T/C] rs1931865 10 2753676 [A/G] rs945142 10 2755927 [T/C] rs1413764 10 2761819 [A/G] rs1889507 10 2762427 [T/C] exm-rs11251469 10 2766921 [A/G] rs11251469 10 2766921 [A/G] rs7904050 10 2780603 [T/C] rs7918571 10 2782166 [A/G] rs4881019 10 2794309 [T/C] rs12762797 10 2798314 [T/C] rs2152001 10 2804109 [A/G] rs2184413 10 2804997 [A/G] rs1334693 10 2828890 [A/C] rs7080882 10 2864447 [A/G] rs11251532 10 2877311 [T/C] rs10903880 10 2881331 [T/C] rs7911151 10 2882338 [T/C] rs7899347 10 2882816 [T/G] rs4436465 10 2887947 [A/C] rs6601988 10 2901165 [T/C] rs11251540 10 2902609 [A/C] rs10903888 10 2909884 [T/C] rs10794968 10 2939241 [A/C] rs7904324 10 2964727 [A/G] rs7084464 10 2965692 [A/G] rs1909684 10 2966418 [A/G] rs1574317 10 2967402 [A/G] rs11813223 10 2967660 [A/G] rs2936896 10 2972261 [A/G] rs2502068 10 2977047 [T/C] rs7087799 10 2981486 [A/G] rs7923826 10 2983047 [T/C] rs17281966 10 2987086 [T/G] rs10794975 10 2988202 [T/C] rs12220191 10 2989572 [A/G] rs10903900 10 2990261 [A/G] rs7911692 10 3000689 [T/C] rs2502082 10 3003837 [A/C] exm2259578 10 3008619 [A/G] rs12357680 10 3013719 [A/G] rs10794978 10 3020453 [A/G] rs10903912 10 3041788 [A/G] rs12260533 10 3054104 [A/G] rs7095229 10 3058941 [A/G] rs6422398 10 3071566 [A/G] rs10903937 10 3076294 [A/G] rs10903938 10 3077299 [T/C] rs7093814 10 3092679 [A/G] rs3814585 10 3095185 [A/G] rs3829910 10 3095281 [A/C] exm2249192 10 3097212 [T/C] rs10732921 10 3097212 [T/C] rs7909171 10 3118871 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7080058 10 3119753 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs882849 10 3123433 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4881075 10 3129472 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10795002 10 3131553 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2388595 10 3138009 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm805978 10 3143161 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Silent,Silent,Silent,Silent,Silent,Missense_R70H,Silent,Silent exm805983 10 3143582 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Silent,Missense_R97Q,Missense_R97Q,Missense_R59Q,Missense_R70Q,Missense_R89Q,Missense_R59Q,Missense_R59Q exm805988 10 3143612 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Silent,Missense_R107H,Missense_R107H,Missense_R69H,Missense_R80H,Missense_R99H,Missense_R69H,Missense_R69H exm805998 10 3143705 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Silent,Missense_R138Q,Missense_R138Q,Missense_R100Q,Missense_R111Q,Missense_R130Q,Missense_R100Q,Missense_R100Q exm806001 10 3143745 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Silent,Synonymous_N151N,Synonymous_N151N,Synonymous_N113N,Synonymous_N124N,Synonymous_N143N,Synonymous_N113N,Synonymous_N113N exm806002 10 3143746 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Silent,Missense_G152S,Missense_G152S,Missense_G114S,Missense_G125S,Missense_G144S,Missense_G114S,Missense_G114S exm806006 10 3145991 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Silent,Missense_V159M,Missense_V159M,Missense_V121M,Missense_V132M,Missense_V151M,Missense_V121M,Missense_V121M exm806008 10 3146001 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Silent,Missense_Y162C,Missense_Y162C,Missense_Y124C,Missense_Y135C,Missense_Y154C,Missense_Y124C,Missense_Y124C exm806017 10 3146059 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Synonymous_T12T,Synonymous_T181T,Synonymous_T181T,Synonymous_T143T,Synonymous_T154T,Synonymous_T173T,Synonymous_T143T,Synonymous_T143T exm2249194 10 3146059 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Synonymous_T12T,Synonymous_T181T,Synonymous_T181T,Synonymous_T143T,Synonymous_T154T,Synonymous_T173T,Synonymous_T143T,Synonymous_T143T rs2388569 10 3148116 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm806062 10 3151644 [G/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Missense_R185P,Missense_R354P,Missense_R354P,Missense_R316P,Missense_R327P,Missense_R346P,Missense_R316P,Missense_R316P,Missense_R138P,Missense_R138P,Missense_R138P exm1678750 10 3151656 [A/T] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Missense_M189K,Missense_M358K,Missense_M358K,Missense_M320K,Missense_M331K,Missense_M350K,Missense_M320K,Missense_M320K,Missense_M142K,Missense_M142K,Missense_M142K rs2306301 10 3154339 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm806065 10 3154433 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Missense_A201V,Missense_A370V,Missense_A370V,Missense_A332V,Missense_A343V,Missense_A362V,Missense_A332V,Missense_A332V,Missense_A154V,Missense_A154V,Missense_A154V rs2306304 10 3154534 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6602024 10 3155237 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm806084 10 3155570 [A/T] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Missense_C242S,Missense_C411S,Missense_C411S,Missense_C373S,Missense_C384S,Missense_C403S,Missense_C373S,Missense_C373S,Missense_C195S,Missense_C195S,Missense_C195S exm2217111 10 3155642 [T/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Missense_V266L,Missense_V435L,Missense_V435L,Missense_V397L,Missense_V408L,Missense_V427L,Missense_V397L,Missense_V397L,Missense_V219L,Missense_V219L,Missense_V219L exm806089 10 3155654 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Missense_D270N,Missense_D439N,Missense_D439N,Missense_D401N,Missense_D412N,Missense_D431N,Missense_D401N,Missense_D401N,Missense_D223N,Missense_D223N,Missense_D223N exm2249195 10 3155698 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Synonymous_F284F,Synonymous_F453F,Synonymous_F453F,Synonymous_F415F,Synonymous_F426F,Synonymous_F445F,Synonymous_F415F,Synonymous_F415F,Synonymous_F237F,Synonymous_F237F,Synonymous_F237F rs4881088 10 3155770 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9423462 10 3160726 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm806116 10 3162130 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Missense_E357G,Missense_E526G,Silent,Missense_E488G,Missense_E499G,Missense_E518G,Missense_E488G,Missense_E488G,Silent,Missense_E310G,Missense_E310G exm806126 10 3162237 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7075876 10 3163175 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11251728 10 3163452 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9423690 10 3165972 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7091322 10 3167902 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6602032 10 3169771 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7080240 10 3169803 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm806135 10 3172012 [A/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Missense_T393N,Missense_T562N,Missense_T511N,Missense_T524N,Missense_T535N,Missense_T554N,Missense_T524N,Missense_T524N,Missense_T295N,Missense_T346N,Missense_T346N exm806137 10 3172020 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Missense_R396C,Missense_R565C,Missense_R514C,Missense_R527C,Missense_R538C,Missense_R557C,Missense_R527C,Missense_R527C,Missense_R298C,Missense_R349C,Missense_R349C rs1052333 10 3172121 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Synonymous_A429A,Synonymous_A598A,Synonymous_A547A,Synonymous_A560A,Synonymous_A571A,Synonymous_A590A,Synonymous_A560A,Synonymous_A560A,Synonymous_A331A,Synonymous_A382A,Synonymous_A382A variant.11395 10 3172180 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2306310 10 3176363 [A/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074,NR_132758 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,SNORD142 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm806181 10 3176766 [A/G] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Missense_R536Q,Missense_R705Q,Missense_R654Q,Missense_R667Q,Missense_R678Q,Missense_R697Q,Missense_R667Q,Missense_R667Q,Missense_R438Q,Missense_R489Q,Missense_R489Q rs9423490 10 3177320 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2249197 10 3177944 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Synonymous_T544T,Synonymous_T713T,Synonymous_T662T,Synonymous_T675T,Synonymous_T686T,Synonymous_T705T,Synonymous_T675T,Synonymous_T675T,Synonymous_T446T,Synonymous_T497T,Synonymous_T497T exm806194 10 3178017 [A/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Missense_Q569K,Missense_Q738K,Missense_Q687K,Missense_Q700K,Missense_Q711K,Missense_Q730K,Missense_Q700K,Missense_Q700K,Missense_Q471K,Missense_Q522K,Missense_Q522K exm806195 10 3178021 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Missense_T570M,Missense_T739M,Missense_T688M,Missense_T701M,Missense_T712M,Missense_T731M,Missense_T701M,Missense_T701M,Missense_T472M,Missense_T523M,Missense_T523M exm806201 10 3178656 [A/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Missense_K578T,Missense_K747T,Missense_K696T,Missense_K709T,Missense_K720T,Missense_K739T,Missense_K709T,Missense_K709T,Missense_K480T,Missense_K531T,Missense_K531T exm2249198 10 3178723 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Synonymous_D600D,Synonymous_D769D,Synonymous_D718D,Synonymous_D731D,Synonymous_D742D,Synonymous_D761D,Synonymous_D731D,Synonymous_D731D,Synonymous_D502D,Synonymous_D553D,Synonymous_D553D exm806206 10 3178723 [T/C] NM_001323069,NM_002627,NM_001323068,NM_001323071,NM_001323067,NM_001242339,NM_001323072,NM_001345944,NM_001323070,NM_001323073,NM_001323074 PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP,PFKP EXON Synonymous_D600D,Synonymous_D769D,Synonymous_D718D,Synonymous_D731D,Synonymous_D742D,Synonymous_D761D,Synonymous_D731D,Synonymous_D731D,Synonymous_D502D,Synonymous_D553D,Synonymous_D553D exm806233 10 3180227 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_Q1038R,Missense_Q832R,Missense_Q971R,Missense_Q602R,Missense_Q766R,Missense_Q1029R,Silent,Silent,Silent,Missense_Q963R,Missense_Q1037R,Missense_Q939R exm806234 10 3180228 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Nonsense_Q1038X,Nonsense_Q832X,Nonsense_Q971X,Nonsense_Q602X,Nonsense_Q766X,Nonsense_Q1029X,Silent,Silent,Silent,Nonsense_Q963X,Nonsense_Q1037X,Nonsense_Q939X exm2249199 10 3180289 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Synonymous_H1017H,Synonymous_H811H,Synonymous_H950H,Synonymous_H581H,Synonymous_H745H,Synonymous_H1008H,Silent,Silent,Silent,Synonymous_H942H,Synonymous_H1016H,Synonymous_H918H exm806242 10 3180316 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Synonymous_R1008R,Synonymous_R802R,Synonymous_R941R,Synonymous_R572R,Synonymous_R736R,Synonymous_R999R,Silent,Silent,Silent,Synonymous_R933R,Synonymous_R1007R,Synonymous_R909R exm2249200 10 3180441 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Synonymous_L1003L,Synonymous_L797L,Synonymous_L936L,Synonymous_L567L,Synonymous_L731L,Synonymous_L994L,Silent,Silent,Silent,Synonymous_L928L,Synonymous_L1002L,Synonymous_L904L exm806244 10 3180441 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Synonymous_L1003L,Synonymous_L797L,Synonymous_L936L,Synonymous_L567L,Synonymous_L731L,Synonymous_L994L,Silent,Silent,Silent,Synonymous_L928L,Synonymous_L1002L,Synonymous_L904L rs2279216 10 3180951 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.11400 10 3181088 [I/D] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 exm806254 10 3181107 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_P970L,Missense_P764L,Missense_P903L,Missense_P534L,Missense_P698L,Missense_P961L,Silent,Silent,Silent,Missense_P895L,Missense_P969L,Missense_P871L exm806257 10 3181126 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_V964I,Missense_V758I,Missense_V897I,Missense_V528I,Missense_V692I,Missense_V955I,Silent,Silent,Silent,Missense_V889I,Missense_V963I,Missense_V865I exm806262 10 3181157 [G/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_I953M,Missense_I747M,Missense_I886M,Missense_I517M,Missense_I681M,Missense_I944M,Silent,Silent,Silent,Missense_I878M,Missense_I952M,Missense_I854M indel.11402 10 3181185 [I/D] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON exm806263 10 3181186 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_K944E,Missense_K738E,Missense_K877E,Missense_K508E,Missense_K672E,Missense_K935E,Silent,Silent,Silent,Missense_K869E,Missense_K943E,Missense_K845E exm806264 10 3181188 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_A943V,Missense_A737V,Missense_A876V,Missense_A507V,Missense_A671V,Missense_A934V,Silent,Silent,Silent,Missense_A868V,Missense_A942V,Missense_A844V exm806274 10 3183003 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_L884F,Missense_L678F,Missense_L817F,Missense_L448F,Missense_L612F,Missense_L875F,Silent,Silent,Silent,Missense_L809F,Missense_L883F,Missense_L785F variant.11403 10 3183006 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4881109 10 3185237 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm806276 10 3185599 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Silent,Missense_T877M,Missense_T671M,Missense_T810M,Missense_T441M,Missense_T605M,Missense_T868M,Silent,Silent,Silent,Missense_T802M,Missense_T876M,Missense_T778M,Silent exm806277 10 3185609 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Silent,Missense_V874I,Missense_V668I,Missense_V807I,Missense_V438I,Missense_V602I,Missense_V865I,Silent,Silent,Silent,Missense_V799I,Missense_V873I,Missense_V775I,Silent exm806278 10 3185622 [T/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Silent,Missense_E869D,Missense_E663D,Missense_E802D,Missense_E433D,Missense_E597D,Missense_E860D,Silent,Silent,Silent,Missense_E794D,Missense_E868D,Missense_E770D,Silent exm806280 10 3185641 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Silent,Missense_P863L,Missense_P657L,Missense_P796L,Missense_P427L,Missense_P591L,Missense_P854L,Silent,Silent,Silent,Missense_P788L,Missense_P862L,Missense_P764L,Silent exm806292 10 3187831 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Silent,Missense_R806Q,Missense_R600Q,Missense_R739Q,Missense_R370Q,Missense_R534Q,Missense_R797Q,Silent,Silent,Silent,Missense_R731Q,Missense_R805Q,Missense_R707Q,Silent rs7924157 10 3189115 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm806297 10 3189343 [T/A] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Silent,Missense_R780W,Missense_R574W,Missense_R713W,Missense_R344W,Missense_R508W,Missense_R771W,Silent,Silent,Silent,Missense_R705W,Missense_R779W,Missense_R681W,Silent exm806298 10 3189379 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Silent,Missense_R768C,Missense_R562C,Missense_R701C,Missense_R332C,Missense_R496C,Missense_R759C,Silent,Silent,Silent,Missense_R693C,Missense_R767C,Missense_R669C,Silent exm806305 10 3189442 [A/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Silent,Missense_V747L,Missense_V541L,Missense_V680L,Missense_V311L,Missense_V475L,Missense_V738L,Silent,Silent,Silent,Missense_V672L,Missense_V746L,Missense_V648L,Silent exm806306 10 3189763 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm806311 10 3189807 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Silent,Missense_T732M,Missense_T526M,Missense_T665M,Missense_T296M,Missense_T460M,Missense_T723M,Silent,Silent,Silent,Missense_T657M,Missense_T731M,Missense_T633M,Silent exm806312 10 3189816 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Silent,Missense_R729Q,Missense_R523Q,Missense_R662Q,Missense_R293Q,Missense_R457Q,Missense_R720Q,Silent,Silent,Silent,Missense_R654Q,Missense_R728Q,Missense_R630Q,Silent exm806318 10 3190211 [C/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Silent,Missense_D680E,Missense_D474E,Silent,Missense_D244E,Silent,Missense_D671E,Silent,Silent,Silent,Silent,Missense_D679E,Silent,Silent indel.11408 10 3190254 [D/I] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON rs4881111 10 3190265 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm806322 10 3190380 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309,NR_038284 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1-AS1 EXON Silent,Missense_M659V,Missense_M454V,Silent,Missense_M224V,Silent,Missense_M651V,Silent,Silent,Silent,Silent,Missense_M659V,Silent,Silent exm806328 10 3191823 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_V621I,Missense_V416I,Missense_V621I,Missense_V186I,Missense_V416I,Missense_V613I,Silent,Silent,Silent,Missense_V613I,Missense_V621I,Missense_V589I exm806330 10 3191830 [G/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_F618L,Missense_F413L,Missense_F618L,Missense_F183L,Missense_F413L,Missense_F610L,Silent,Silent,Silent,Missense_F610L,Missense_F618L,Missense_F586L exm806333 10 3191901 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_M595V,Missense_M390V,Missense_M595V,Missense_M160V,Missense_M390V,Missense_M587V,Silent,Silent,Silent,Missense_M587V,Missense_M595V,Missense_M563V exm806340 10 3193451 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_V576M,Missense_V371M,Missense_V576M,Missense_V141M,Missense_V371M,Missense_V568M,Silent,Silent,Silent,Missense_V568M,Missense_V576M,Missense_V544M exm806342 10 3193456 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_L574S,Missense_L369S,Missense_L574S,Missense_L139S,Missense_L369S,Missense_L566S,Silent,Silent,Silent,Missense_L566S,Missense_L574S,Missense_L542S exm806343 10 3193516 [T/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_A554D,Missense_A349D,Missense_A554D,Missense_A119D,Missense_A349D,Missense_A546D,Silent,Silent,Silent,Missense_A546D,Missense_A554D,Missense_A522D indel.11409 10 3193520 [I/D] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON exm806345 10 3193544 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_R545W,Missense_R340W,Missense_R545W,Missense_R110W,Missense_R340W,Missense_R537W,Silent,Silent,Silent,Missense_R537W,Missense_R545W,Missense_R513W exm806349 10 3197856 [G/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_Q516H,Missense_Q311H,Missense_Q516H,Missense_Q81H,Missense_Q311H,Missense_Q508H,Silent,Silent,Silent,Missense_Q508H,Missense_Q516H,Missense_Q484H exm806351 10 3197902 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_T501I,Missense_T296I,Missense_T501I,Missense_T66I,Missense_T296I,Missense_T493I,Silent,Silent,Silent,Missense_T493I,Missense_T501I,Missense_T469I newrs114130274 10 3199273 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm806357 10 3199703 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_R424Q,Missense_R219Q,Missense_R424Q,Silent,Missense_R219Q,Missense_R416Q,Silent,Silent,Silent,Missense_R416Q,Missense_R424Q,Missense_R392Q exm806360 10 3200257 [A/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_D409Y,Missense_D204Y,Missense_D409Y,Silent,Missense_D204Y,Missense_D401Y,Silent,Silent,Silent,Missense_D401Y,Missense_D409Y,Missense_D377Y exm806362 10 3200292 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_A397V,Missense_A192V,Missense_A397V,Silent,Missense_A192V,Missense_A389V,Silent,Silent,Silent,Missense_A389V,Missense_A397V,Missense_A365V rs3814594 10 3201097 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm806369 10 3201136 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_G369D,Missense_G164D,Missense_G369D,Silent,Missense_G164D,Missense_G361D,Silent,Silent,Silent,Missense_G361D,Missense_G369D,Missense_G337D exm806372 10 3202059 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_V330I,Missense_V125I,Missense_V330I,Silent,Missense_V125I,Missense_V322I,Silent,Silent,Silent,Missense_V322I,Missense_V330I,Missense_V298I rs4242746 10 3202065 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_I328V,Missense_I123V,Missense_I328V,Silent,Missense_I123V,Missense_I320V,Silent,Silent,Silent,Missense_I320V,Missense_I328V,Missense_I296V exm806373 10 3202065 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_I328V,Missense_I123V,Missense_I328V,Silent,Missense_I123V,Missense_I320V,Silent,Silent,Silent,Missense_I320V,Missense_I328V,Missense_I296V indel.11414 10 3202110 [I/D] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON exm806378 10 3202491 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Nonsense_Q275X,Nonsense_Q70X,Nonsense_Q275X,Silent,Nonsense_Q70X,Nonsense_Q267X,Silent,Silent,Silent,Nonsense_Q267X,Nonsense_Q275X,Nonsense_Q243X rs5017749 10 3204682 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1678915 10 3206008 [A/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_V234F,Missense_V29F,Missense_V234F,Silent,Missense_V29F,Missense_V226F,Silent,Silent,Silent,Missense_V226F,Missense_V234F,Missense_V202F exm806383 10 3206019 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_T230M,Missense_T25M,Missense_T230M,Silent,Missense_T25M,Missense_T222M,Silent,Silent,Silent,Missense_T222M,Missense_T230M,Missense_T198M exm806388 10 3207479 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_T194M,Silent,Missense_T194M,Silent,Silent,Missense_T186M,Silent,Silent,Silent,Missense_T186M,Missense_T194M,Missense_T162M exm806391 10 3207632 [A/G] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_F169S,Silent,Missense_F169S,Silent,Silent,Missense_F161S,Silent,Silent,Silent,Missense_F161S,Missense_F169S,Missense_F137S rs17133550 10 3212244 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm806412 10 3212315 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_H47R,Silent,Missense_H47R,Silent,Silent,Missense_H39R,Silent,Silent,Silent,Missense_H39R,Missense_H47R,Silent exm806414 10 3212358 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_A33T,Silent,Missense_A33T,Silent,Silent,Missense_A25T,Silent,Silent,Silent,Missense_A25T,Missense_A33T,Silent exm806415 10 3212360 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_R32Q,Silent,Missense_R32Q,Silent,Silent,Missense_R24Q,Silent,Silent,Silent,Missense_R24Q,Missense_R32Q,Silent exm806418 10 3212382 [T/C] NR_144641,NM_001242307,NM_001347727,NM_001347725,NM_001347728,NM_001347726,NM_001347729,NR_144639,NR_144638,NR_144640,NM_001347730,NM_014889,NM_001242309 PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1 EXON Silent,Missense_A25T,Silent,Missense_A25T,Silent,Silent,Missense_A17T,Silent,Silent,Silent,Missense_A17T,Missense_A25T,Silent rs9423506 10 3218457 [T/C] rs10751916 10 3245862 [T/G] exm2271246 10 3249111 [T/C] rs2477765 10 3260462 [A/G] rs7088720 10 3264809 [T/C] rs10795014 10 3274756 [T/C] rs2814925 10 3284061 [A/G] rs2764986 10 3286815 [A/G] rs4489652 10 3304955 [A/G] rs9804298 10 3313456 [T/C] rs7082002 10 3314267 [A/G] rs2147939 10 3322307 [A/C] rs10904018 10 3330360 [T/G] rs728939 10 3331092 [T/C] rs12766986 10 3335061 [T/C] rs4881147 10 3342774 [T/C] rs4881149 10 3344048 [T/C] rs502397 10 3347548 [T/C] rs549676 10 3348124 [T/C] rs737533 10 3363137 [A/G] NR_131187 LOC105376360 Silent rs1807437 10 3363208 [T/C] NR_131187 LOC105376360 Silent rs4881155 10 3368595 [T/C] NR_131187 LOC105376360 Silent rs7903644 10 3387978 [T/C] NR_131187 LOC105376360 Silent rs11251861 10 3397728 [T/G] NR_131187 LOC105376360 Silent rs4271299 10 3400516 [A/G] NR_131187 LOC105376360 Silent rs7090790 10 3416737 [A/G] NR_131187 LOC105376360 Silent rs1570854 10 3418124 [T/C] NR_131187 LOC105376360 Silent rs7080295 10 3421414 [A/G] NR_131187 LOC105376360 Silent rs7894960 10 3431825 [A/G] NR_131187 LOC105376360 Silent rs10508255 10 3444851 [A/G] NR_131187 LOC105376360 Silent rs10795033 10 3447072 [T/C] NR_131187 LOC105376360 Silent rs7901480 10 3457288 [T/C] NR_131187 LOC105376360 Silent rs11599597 10 3466699 [T/C] NR_131187 LOC105376360 Silent rs7084941 10 3482498 [A/G] NR_131187,NR_155743 LOC105376360,LOC101927880 Silent,Silent rs7894316 10 3490932 [T/C] NR_131187,NR_155743 LOC105376360,LOC101927880 Silent,Silent rs1964428 10 3505030 [A/G] NR_131187,NR_155743 LOC105376360,LOC101927880 Silent,Silent rs2053889 10 3509300 [T/G] NR_131187,NR_155743 LOC105376360,LOC101927880 Silent,Silent exm-rs2165468 10 3516105 [A/C] NR_131187,NR_155743 LOC105376360,LOC101927880 Silent,Silent rs483881 10 3520151 [A/G] NR_131187,NR_155743 LOC105376360,LOC101927880 Silent,Silent rs10904049 10 3525645 [A/G] NR_131187,NR_155743 LOC105376360,LOC101927880 Silent,Silent rs1660980 10 3529103 [T/G] NR_131187,NR_155743,NR_155744,NR_155746 LOC105376360,LOC101927880,LOC101927880,LOC101927880 EXON Silent,Silent,Silent,Silent rs964162 10 3535233 [T/C] NR_131187,NR_155743,NR_155744,NR_155746 LOC105376360,LOC101927880,LOC101927880,LOC101927880 Silent,Silent,Silent,Silent rs17135332 10 3555578 [A/G] NR_131187 LOC105376360 Silent rs684240 10 3558799 [A/G] NR_131187 LOC105376360 Silent rs476079 10 3558971 [A/G] NR_131187 LOC105376360 Silent rs7914011 10 3580253 [A/C] NR_131187 LOC105376360 Silent rs11251934 10 3580801 [T/C] NR_131187 LOC105376360 Silent rs7086377 10 3596526 [T/G] NR_131187 LOC105376360 Silent rs7914587 10 3597405 [T/C] NR_131187 LOC105376360 Silent rs7068219 10 3600741 [A/G] NR_131187 LOC105376360 Silent rs17135409 10 3601011 [A/G] NR_131187 LOC105376360 Silent rs11812097 10 3620969 [A/G] NR_131187 LOC105376360 Silent rs11251954 10 3628517 [A/G] NR_131187 LOC105376360 Silent rs17135436 10 3635369 [A/G] NR_131187 LOC105376360 Silent rs1668538 10 3640752 [A/G] NR_131187 LOC105376360 Silent rs705468 10 3658434 [A/G] NR_131187 LOC105376360 Silent rs705471 10 3667726 [A/G] NR_131187 LOC105376360 Silent rs7098140 10 3682002 [T/C] NR_131187 LOC105376360 Silent rs12262514 10 3684990 [T/C] NR_131187 LOC105376360 Silent rs4881184 10 3686435 [T/G] NR_131187 LOC105376360 Silent rs11251992 10 3690408 [A/C] NR_131187 LOC105376360 Silent rs2397327 10 3691304 [A/G] NR_131187 LOC105376360 Silent rs7095969 10 3706894 [A/G] NR_131187 LOC105376360 Silent rs7909212 10 3707650 [A/C] NR_131187 LOC105376360 Silent rs6601745 10 3719164 [T/C] NR_131187 LOC105376360 Silent rs11252021 10 3723698 [A/G] NR_131187 LOC105376360 Silent rs873207 10 3724752 [T/C] NR_131187 LOC105376360 Silent rs7100211 10 3727947 [T/C] NR_131187 LOC105376360 Silent rs2129446 10 3733386 [A/G] NR_131187 LOC105376360 Silent rs10508261 10 3733731 [T/C] NR_131187 LOC105376360 Silent rs7895630 10 3738103 [A/G] NR_131187 LOC105376360 Silent rs4881197 10 3739510 [T/C] NR_131187 LOC105376360 Silent rs11597829 10 3754781 [A/C] NR_131187 LOC105376360 Silent rs10751938 10 3766472 [A/G] NR_131187 LOC105376360 Silent rs7094467 10 3769727 [A/G] NR_131187 LOC105376360 Silent rs11592787 10 3771779 [T/C] NR_131187 LOC105376360 Silent rs7094917 10 3778825 [T/C] NR_131187 LOC105376360 Silent rs10795068 10 3782419 [A/G] NR_131187 LOC105376360 Silent rs10904089 10 3791224 [T/G] NR_131187 LOC105376360 EXON Silent rs7896849 10 3798495 [A/C] exm2267074 10 3806376 [A/G] rs11252077 10 3809243 [A/G] rs7071559 10 3811042 [T/C] rs7076536 10 3812240 [T/C] rs2171302 10 3815292 [T/C] rs2279414 10 3818058 [A/G] rs1043003 10 3820787 [T/C] NM_001160125,NM_001300,NM_001160124,NR_027653 KLF6,KLF6,KLF6,KLF6 EXON Silent,Silent,Silent,Silent exm2249220 10 3823906 [T/C] NM_001160125,NM_001300,NM_001160124,NR_027653 KLF6,KLF6,KLF6,KLF6 EXON Synonymous_R201R,Synonymous_R201R,Silent,Silent exm806447 10 3824016 [T/C] NM_001160125,NM_001300,NM_001160124,NR_027653 KLF6,KLF6,KLF6,KLF6 EXON Missense_V165M,Missense_V165M,Missense_V165M,Silent exm806452 10 3824144 [A/G] NM_001160125,NM_001300,NM_001160124,NR_027653 KLF6,KLF6,KLF6,KLF6 EXON Missense_T122M,Missense_T122M,Missense_T122M,Silent exm806454 10 3824253 [A/G] NM_001160125,NM_001300,NM_001160124,NR_027653 KLF6,KLF6,KLF6,KLF6 EXON Missense_P86S,Missense_P86S,Missense_P86S,Silent rs11595251 10 3836471 [A/G] rs10508265 10 3839024 [A/G] rs10508266 10 3840014 [T/G] rs7898258 10 3844038 [A/C] rs4881220 10 3853031 [A/G] rs12245875 10 3856293 [T/C] rs11252118 10 3860167 [T/C] exm-rs6601764 10 3862542 [T/C] rs11252133 10 3882497 [A/G] rs7906433 10 3888845 [T/C] rs7907906 10 3892083 [A/G] rs17135891 10 3893457 [T/G] rs7897383 10 3893980 [T/C] rs7902434 10 3896229 [A/G] rs7902252 10 3906911 [A/G] rs6601770 10 3913700 [T/C] rs11252148 10 3917237 [A/G] rs943034 10 3921082 [T/C] rs3932533 10 3925728 [A/G] rs10795088 10 3930424 [A/G] rs17251434 10 3932531 [A/G] rs10795092 10 3934581 [T/G] rs11252168 10 3935402 [A/G] rs10795093 10 3939728 [T/C] rs4881232 10 3945400 [A/C] rs10732922 10 3946610 [T/C] rs7899935 10 3948464 [A/G] exm2249224 10 3948928 [A/G] rs9651513 10 3949166 [A/G] rs10795100 10 3950427 [A/G] rs4364955 10 3950446 [T/C] rs17136022 10 3956841 [A/G] rs943031 10 3969047 [A/G] rs7074459 10 3972077 [T/C] rs7922385 10 3980136 [A/G] rs10904140 10 3988146 [T/G] rs7098821 10 4000140 [T/C] rs4881260 10 4000708 [A/G] rs2031573 10 4001897 [T/C] rs7895964 10 4002033 [A/C] rs12217980 10 4003340 [A/G] rs10751951 10 4021078 [A/G] rs10795115 10 4023855 [A/G] rs9664331 10 4038347 [A/C] rs2031577 10 4050003 [A/G] exm-rs2031577 10 4050003 [A/G] rs2031575 10 4050058 [T/G] rs7919822 10 4062327 [A/G] rs2291788 10 4070444 [A/G] rs1886946 10 4075656 [T/C] rs2765648 10 4076159 [T/C] rs2765660 10 4085382 [A/G] rs1325998 10 4092494 [T/G] rs2645211 10 4094234 [A/G] NR_120632 LOC101927964 EXON Silent rs11252318 10 4115502 [T/C] NR_120632 LOC101927964 Silent rs10508274 10 4115602 [A/G] NR_120632 LOC101927964 Silent rs7341996 10 4121705 [A/C] NR_120632 LOC101927964 Silent rs2069178 10 4128024 [T/C] NR_120632 LOC101927964 Silent exm2271247 10 4128024 [T/C] NR_120632 LOC101927964 Silent rs11252333 10 4133306 [A/G] rs10904182 10 4138683 [T/C] rs7087387 10 4138794 [T/C] rs10795128 10 4150876 [A/G] rs10795130 10 4151121 [T/G] rs1885477 10 4164366 [T/C] rs4881298 10 4184635 [A/C] rs6601817 10 4190058 [A/G] rs7907648 10 4212277 [T/C] rs4275521 10 4219333 [A/C] rs9664754 10 4237510 [T/C] rs2181124 10 4240572 [A/C] rs7096293 10 4241547 [A/C] rs7900699 10 4249881 [A/G] NR_108040 LINC00702 Silent rs7096465 10 4250500 [T/C] NR_108040 LINC00702 Silent rs6601822 10 4252171 [T/C] NR_108040 LINC00702 Silent rs1998328 10 4265108 [T/C] NR_108040 LINC00702 Silent exm2259591 10 4286897 [A/G] rs4881303 10 4287879 [A/G] rs10904218 10 4306421 [A/G] rs6601827 10 4319186 [A/G] rs1923396 10 4321300 [T/C] rs1923397 10 4322833 [A/G] rs7917410 10 4332824 [T/C] rs9423526 10 4334578 [T/C] rs11813559 10 4343285 [A/G] rs4475832 10 4351582 [A/G] rs10904225 10 4352698 [T/G] rs10904228 10 4361265 [T/G] rs10904233 10 4365399 [T/C] rs4261192 10 4380623 [T/G] rs11252477 10 4390097 [A/G] rs7082366 10 4395682 [T/C] rs11252485 10 4406237 [A/C] rs7894528 10 4415882 [A/G] rs11814820 10 4424952 [A/G] rs7072047 10 4428799 [A/G] NR_108055,NR_108054 LINC00703,LINC00703 Silent,Silent rs12770204 10 4432617 [T/C] NR_108055,NR_108054 LINC00703,LINC00703 Silent,Silent rs17132814 10 4437754 [A/C] NR_108055,NR_108054 LINC00703,LINC00703 Silent,Silent rs993175 10 4450357 [T/C] NR_108055,NR_108054,NR_108056 LINC00703,LINC00703,LINC00703 Silent,Silent,Silent rs1751307 10 4453312 [T/C] rs10795164 10 4458818 [T/C] rs1679434 10 4469292 [T/G] rs1751280 10 4469878 [T/C] rs10904254 10 4480571 [A/G] rs1751275 10 4480902 [T/C] rs1751291 10 4492612 [A/G] rs1625110 10 4496690 [A/G] rs1751300 10 4499085 [A/G] rs1615752 10 4501924 [T/C] rs1926797 10 4502809 [A/G] rs2077668 10 4511571 [A/G] rs9663977 10 4517381 [A/G] rs1079110 10 4529263 [A/G] rs4551658 10 4538492 [A/C] rs11252571 10 4554674 [T/C] rs313479 10 4576042 [T/C] rs313484 10 4579540 [T/C] rs7079674 10 4582015 [A/G] rs11814411 10 4588261 [T/C] rs387673 10 4594032 [A/G] rs416990 10 4596608 [A/G] rs372744 10 4598433 [T/C] rs715987 10 4598903 [T/C] rs745782 10 4604986 [A/G] rs10795187 10 4609790 [A/G] rs313500 10 4612690 [T/C] rs10904290 10 4616862 [A/G] rs2028690 10 4619601 [T/G] rs381443 10 4621751 [T/C] rs1498271 10 4627791 [A/G] rs1498274 10 4628616 [T/C] rs10904299 10 4646167 [A/C] rs12775823 10 4647269 [A/G] rs7096965 10 4648430 [A/G] rs10904300 10 4648434 [T/C] rs11252619 10 4648974 [T/C] rs11252622 10 4650036 [T/C] rs1027504 10 4653578 [A/G] rs10458787 10 4655565 [A/G] exm-rs10458787 10 4655565 [A/G] rs1039197 10 4659197 [A/C] rs313462 10 4674335 [T/C] rs313445 10 4680910 [A/G] rs313438 10 4683858 [T/G] rs2088500 10 4687532 [A/G] rs12255709 10 4689138 [A/G] rs313452 10 4689842 [T/G] rs2165953 10 4716542 [A/G] NR_024475 MANCR Silent exm-rs1391511 10 4719796 [A/G] NR_024475 MANCR Silent rs1498273 10 4728091 [T/C] rs10904319 10 4741842 [T/C] rs7068675 10 4746670 [A/C] rs11252674 10 4753422 [T/C] rs11252679 10 4756587 [A/G] rs2397839 10 4769379 [T/C] exm2271248 10 4769379 [T/C] rs10904328 10 4772604 [A/G] rs12251644 10 4780398 [A/C] rs4881340 10 4791718 [T/C] rs10904333 10 4792577 [T/C] rs12357812 10 4798756 [A/G] rs10904337 10 4811345 [T/C] rs7893291 10 4811703 [T/G] rs7900146 10 4814682 [A/G] rs9423544 10 4817965 [A/G] rs17373443 10 4827569 [A/G] rs2397990 10 4829103 [T/C] rs9423376 10 4834556 [T/C] rs12416000 10 4840167 [A/G] rs4146754 10 4842737 [A/G] rs17374031 10 4847380 [A/G] rs3100196 10 4854229 [A/G] rs2961609 10 4855238 [A/G] rs2961620 10 4863351 [T/C] exm806476 10 4872930 [A/G] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Missense_D35N,Silent,Missense_D35N,Missense_D35N indel.11422 10 4872937 [I/D] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON exm806478 10 4872973 [T/G] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Missense_G49V,Silent,Missense_G49V,Missense_G49V exm806480 10 4872981 [T/G] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Missense_C52G,Silent,Missense_C52G,Missense_C52G exm806485 10 4875551 [A/C] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Missense_T73P,Silent,Missense_T73P,Missense_T73P exm806487 10 4875591 [A/G] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Missense_K86R,Silent,Missense_K86R,Missense_K86R exm806493 10 4877871 [G/C] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Missense_P110R,Silent,Missense_P110R,Missense_P110R exm806505 10 4879741 [T/C] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Silent,Silent,Missense_P184S,Missense_P184S exm806506 10 4879748 [T/G] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Silent,Silent,Missense_L186W,Missense_L186W exm806507 10 4879755 [A/C] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Silent,Silent,Missense_F188L,Missense_F188L exm806509 10 4879774 [A/G] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 Silent,Silent,Silent,Silent,Silent,Silent exm806511 10 4881945 [C/G] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Silent,Silent,Silent,Missense_Q203E indel.11426 10 4881946 [I/D] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON exm2249257 10 4884031 [T/C] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Silent,Silent,Silent,Synonymous_H245H newrs138083633 10 4884032 [A/G] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Silent,Silent,Silent,Missense_G246S exm806519 10 4884039 [A/C] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Silent,Silent,Silent,Missense_S248Y exm806526 10 4884698 [T/G] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 Silent,Silent,Silent,Silent,Silent,Silent exm806531 10 4889403 [T/C] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Nonsense_R203X,Silent,Nonsense_R244X,Nonsense_R301X exm806532 10 4889421 [A/G] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Missense_I209V,Silent,Missense_I250V,Missense_I307V exm1680558 10 4889685 [A/G] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Missense_K211R,Silent,Missense_K252R,Missense_K309R rs1869214 10 4889770 [T/C] NR_073125,NR_073126,NM_001271025,NR_073127,NM_001271021,NM_001040177 AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2,AKR1E2 EXON Silent,Silent,Silent,Silent,Silent,Silent rs2924264 10 4891221 [T/C] rs10795202 10 4893318 [T/C] rs10795205 10 4899130 [A/G] rs4359096 10 4901798 [T/G] rs10795206 10 4909968 [T/C] rs4460716 10 4919641 [T/G] NR_026743 AKR1C6P Silent rs3924662 10 4929456 [T/C] NR_026743 AKR1C6P Silent rs10904368 10 4932085 [A/G] NR_026743 AKR1C6P EXON Silent rs9888112 10 4935482 [T/G] NR_026743 AKR1C6P Silent rs4500389 10 4942736 [T/C] NR_026743 AKR1C6P Silent rs4457653 10 4943518 [T/C] NR_026743 AKR1C6P Silent rs7090237 10 4944816 [T/C] NR_026743 AKR1C6P Silent rs4491123 10 4954952 [A/G] NR_026743 AKR1C6P Silent exm-rs12774134 10 4963327 [T/C] rs4528219 10 4972761 [A/G] rs7901384 10 4973690 [T/C] rs7076643 10 4981696 [T/G] rs7094041 10 4982478 [T/C] rs4339935 10 4986044 [T/G] rs7093917 10 4990299 [T/C] exm806560 10 5008137 [A/G] NM_001353 AKR1C1 EXON Missense_K39R exm806566 10 5008167 [T/C] NM_001353 AKR1C1 EXON Missense_I49T exm806569 10 5008181 [T/G] NM_001353 AKR1C1 EXON Missense_L54V exm806570 10 5008183 [A/T] NM_001353 AKR1C1 EXON Missense_L54F rs2904802 10 5009364 [T/C] NM_001353 AKR1C1 Silent rs7076886 10 5009449 [T/C] NM_001353 AKR1C1 Silent rs2904804 10 5009759 [T/G] NM_001353 AKR1C1 Silent exm806588 10 5011017 [A/G] NM_001353 AKR1C1 EXON Missense_V151M rs6601882 10 5021218 [T/C] rs7909151 10 5026096 [A/G] rs7915338 10 5027660 [T/C] rs4881372 10 5032701 [A/G] NM_205845,NM_001354,NM_001321027 AKR1C2,AKR1C2,AKR1C2 Silent,Silent,Silent rs10904387 10 5035246 [T/C] NM_205845,NM_001354,NM_001321027 AKR1C2,AKR1C2,AKR1C2 Silent,Silent,Silent rs9804392 10 5036441 [A/G] NM_205845,NM_001354,NM_001321027 AKR1C2,AKR1C2,AKR1C2 Silent,Silent,Silent exm806659 10 5040936 [T/C] NM_205845,NM_001354,NM_001321027 AKR1C2,AKR1C2,AKR1C2 EXON Missense_M151V,Missense_M151V,Missense_M125V exm806673 10 5042839 [T/C] NM_205845,NM_001354,NM_001321027,NM_001135241 AKR1C2,AKR1C2,AKR1C2,AKR1C2 EXON Missense_R91Q,Missense_R91Q,Missense_R91Q,Missense_R91Q exm806679 10 5043778 [G/C] NM_205845,NM_001354,NM_001321027,NM_001135241 AKR1C2,AKR1C2,AKR1C2,AKR1C2 EXON Missense_Q60H,Missense_Q60H,Missense_Q60H,Missense_Q60H exm806680 10 5043792 [T/C] NM_205845,NM_001354,NM_001321027,NM_001135241 AKR1C2,AKR1C2,AKR1C2,AKR1C2 EXON Missense_N56D,Missense_N56D,Missense_N56D,Missense_N56D var_10_5043798 10 5043799 [I/D] NM_205845,NM_001354,NM_001321027,NM_001135241 AKR1C2,AKR1C2,AKR1C2,AKR1C2 EXON exm806682 10 5043821 [T/A] NM_205845,NM_001354,NM_001321027,NM_001135241 AKR1C2,AKR1C2,AKR1C2,AKR1C2 EXON Missense_F46Y,Missense_F46Y,Missense_F46Y,Missense_F46Y exm806684 10 5043846 [T/C] NM_205845,NM_001354,NM_001321027,NM_001135241 AKR1C2,AKR1C2,AKR1C2,AKR1C2 EXON Missense_V38I,Missense_V38I,Missense_V38I,Missense_V38I rs11252887 10 5065248 [T/C] rs2895059 10 5065747 [T/C] rs10904392 10 5068113 [T/G] exm2271249 10 5068113 [T/G] rs12249281 10 5075493 [A/G] rs7096045 10 5076063 [A/G] rs2801904 10 5083884 [A/C] rs4596974 10 5092048 [A/C] NM_001253908 AKR1C3 Silent rs2096421 10 5097405 [T/G] NM_001253908 AKR1C3 Silent rs10795241 10 5104290 [T/C] NM_001253908 AKR1C3 Silent rs17395698 10 5104908 [A/G] NM_001253908 AKR1C3 Silent rs12570598 10 5107795 [T/G] NM_001253908 AKR1C3 Silent exm2259601 10 5115907 [T/G] NM_001253908 AKR1C3 Silent rs7901781 10 5119544 [T/C] NM_001253908 AKR1C3 Silent rs12570303 10 5121745 [A/C] NM_001253908 AKR1C3 Silent rs6601900 10 5123136 [A/G] NM_001253908 AKR1C3 Silent rs11252934 10 5134416 [T/C] NM_001253908 AKR1C3 Silent exm806694 10 5136651 [C/G] NM_001253908,NM_001253909,NM_003739 AKR1C3,AKR1C3,AKR1C3 EXON Silent,Missense_H5Q,Missense_H5Q exm806695 10 5136654 [G/C] NM_001253908,NM_001253909,NM_003739 AKR1C3,AKR1C3,AKR1C3 EXON Silent,Missense_Q6H,Missense_Q6H rs2518049 10 5138036 [A/G] NM_001253908,NM_001253909,NM_003739 AKR1C3,AKR1C3,AKR1C3 Silent,Silent,Silent rs2801883 10 5139003 [T/C] NM_001253908,NM_001253909,NM_003739 AKR1C3,AKR1C3,AKR1C3 Silent,Silent,Silent exm806712 10 5139626 [T/C] NM_001253908,NM_001253909,NM_003739 AKR1C3,AKR1C3,AKR1C3 EXON Missense_L85F,Missense_L85F,Missense_L85F exm806713 10 5139642 [A/G] NM_001253908,NM_001253909,NM_003739 AKR1C3,AKR1C3,AKR1C3 EXON Missense_H90R,Missense_H90R,Missense_H90R exm806714 10 5139644 [T/C] NM_001253908,NM_001253909,NM_003739 AKR1C3,AKR1C3,AKR1C3 EXON Nonsense_R91X,Nonsense_R91X,Nonsense_R91X variant.11436 10 5139659 [T/C] NM_001253908,NM_001253909,NM_003739 AKR1C3,AKR1C3,AKR1C3 EXON Nonsense_R96X,Nonsense_R96X,Nonsense_R96X exm2217267 10 5141058 [A/G] NM_001253908,NM_003739 AKR1C3,AKR1C3 EXON Missense_C145Y,Missense_C145Y exm806736 10 5141609 [T/C] NM_001253908,NM_003739 AKR1C3,AKR1C3 EXON Missense_P180S,Missense_P180S newrs140580498 10 5141639 [T/C] NM_001253908,NM_003739 AKR1C3,AKR1C3 EXON Nonsense_Q190X,Nonsense_Q190X newrs147205859 10 5141642 [A/G] NM_001253908,NM_003739 AKR1C3,AKR1C3 Silent,Silent exm806739 10 5141642 [A/G] NM_001253908,NM_003739 AKR1C3,AKR1C3 Silent,Silent rs2154306 10 5143902 [T/C] NM_001253908,NM_003739 AKR1C3,AKR1C3 Silent,Silent rs4881400 10 5144037 [T/G] NM_001253908,NM_003739 AKR1C3,AKR1C3 Silent,Silent exm806742 10 5144306 [T/C] NM_001253908,NM_003739 AKR1C3,AKR1C3 EXON Missense_P195L,Missense_P195L exm806745 10 5144318 [A/G] NM_001253908,NM_003739 AKR1C3,AKR1C3 EXON Missense_R199Q,Missense_R199Q indel.11443 10 5144336 [I/D] NM_001253908,NM_003739 AKR1C3,AKR1C3 EXON variant.11444 10 5144407 [T/C] NM_001253908,NM_003739 AKR1C3,AKR1C3 Silent,Silent exm806761 10 5147809 [T/C] NM_001253908,NM_003739 AKR1C3,AKR1C3 EXON Missense_A290V,Missense_A290V exm806767 10 5147869 [C/G] NM_001253908,NM_003739 AKR1C3,AKR1C3 EXON Missense_S310T,Missense_S310T rs4512728 10 5148387 [T/C] NM_001253908,NM_003739 AKR1C3,AKR1C3 Silent,Silent rs7921327 10 5159453 [A/G] exm-rs10795250 10 5164836 [A/G] rs7086693 10 5165820 [A/G] rs2895064 10 5172344 [A/G] rs2186174 10 5176727 [A/C] rs969819 10 5185582 [T/C] rs1781930 10 5196273 [A/G] rs1781931 10 5197881 [A/G] NR_027916 AKR1C8P EXON Silent rs1781938 10 5201444 [A/G] NR_027916 AKR1C8P Silent variant.11447 10 5203675 [A/G] NR_027916 AKR1C8P EXON Silent variant.11448 10 5204896 [A/C] NR_027916 AKR1C8P EXON Silent indel.11449 10 5204954 [I/D] NR_027916 AKR1C8P EXON newrs114637487 10 5204971 [A/G] NR_027916 AKR1C8P EXON Silent variant.11452 10 5227033 [T/C] NR_027916 AKR1C8P EXON Silent rs11253038 10 5229091 [T/C] rs4880716 10 5238196 [A/G] indel.11453 10 5242294 [I/D] NM_001818 AKR1C4 EXON indel.11454 10 5246396 [I/D] NM_001818 AKR1C4 EXON variant.11455 10 5246457 [A/G] NM_001818 AKR1C4 Silent exm806854 10 5247754 [A/G] NM_001818 AKR1C4 EXON Missense_G135E exm806856 10 5247784 [C/G] NM_001818 AKR1C4 EXON Missense_S145C rs1889457 10 5249213 [A/G] NM_001818 AKR1C4 Silent indel.11456 10 5254627 [I/D] NM_001818 AKR1C4 EXON exm-rs1832007 10 5254847 [A/G] NM_001818 AKR1C4 Silent exm806871 10 5255003 [A/G] NM_001818 AKR1C4 EXON Missense_A243T exm806872 10 5255025 [A/G] NM_001818 AKR1C4 EXON Missense_Q250R exm806874 10 5255063 [T/C] NM_001818 AKR1C4 EXON Missense_R263C rs2050308 10 5258571 [A/G] NM_001818 AKR1C4 Silent exm806883 10 5260682 [G/C] NM_001818 AKR1C4 EXON Missense_L311V rs11253059 10 5275078 [T/C] rs2398152 10 5294191 [T/C] rs9423582 10 5301811 [A/C] rs12266035 10 5302518 [T/G] rs9423399 10 5311075 [A/G] NR_149060 LINC02561 Silent rs1889460 10 5313995 [T/C] rs4881425 10 5319195 [T/C] rs7097810 10 5325154 [T/C] rs7906894 10 5326846 [T/C] rs9423591 10 5327676 [A/G] rs7076488 10 5333008 [A/G] rs7081029 10 5333043 [T/C] rs1344354 10 5339074 [A/G] rs1987511 10 5348337 [T/C] rs7475343 10 5349871 [T/C] rs9423406 10 5353690 [A/G] rs7896729 10 5354677 [A/G] rs7894961 10 5356862 [T/C] rs11815802 10 5366431 [T/C] rs4881433 10 5368972 [T/C] rs6601945 10 5375877 [T/C] rs12570234 10 5382676 [T/G] rs12098412 10 5383888 [T/C] rs11596042 10 5385336 [T/G] rs10904468 10 5386067 [A/G] rs10450518 10 5389209 [A/G] rs9423601 10 5396328 [T/C] rs12784234 10 5404261 [T/G] rs10904478 10 5404347 [T/C] rs12783734 10 5405265 [A/G] rs10904479 10 5405315 [A/G] rs6601952 10 5413634 [A/C] NM_053049 UCN3 Silent exm806894 10 5415798 [A/G] NM_053049 UCN3 EXON Missense_A39T exm806901 10 5415894 [A/G] NM_053049 UCN3 EXON Missense_E71K exm806905 10 5415931 [T/C] NM_053049 UCN3 EXON Missense_I83T exm806906 10 5415948 [A/G] NM_053049 UCN3 EXON Missense_G89R exm806907 10 5415954 [A/G] NM_053049 UCN3 EXON Missense_R91G rs10904481 10 5415954 [A/G] NM_053049 UCN3 EXON Missense_R91G exm806909 10 5415964 [A/G] NM_053049 UCN3 EXON Missense_R94Q exm806914 10 5416075 [T/C] NM_053049 UCN3 EXON Missense_M131T exm806921 10 5416128 [A/G] NM_053049 UCN3 EXON Missense_A149T rs11253141 10 5422196 [A/C] rs7069716 10 5424341 [A/G] rs6422396 10 5432565 [T/G] exm806932 10 5435493 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_A403V,Missense_A443V exm1681444 10 5435602 [A/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_A367S,Missense_A407S exm806941 10 5435683 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_R340W,Missense_R380W exm806944 10 5435724 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_P326L,Missense_P366L exm806948 10 5435783 [C/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_H306Q,Missense_H346Q exm806949 10 5435796 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_T302M,Missense_T342M exm806951 10 5435803 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_A300T,Missense_A340T exm806953 10 5435823 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_K293R,Missense_K333R exm806954 10 5435827 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_P292S,Missense_P332S exm806963 10 5435983 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_A240T,Missense_A280T exm806965 10 5436009 [A/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_R231I,Missense_R271I exm806967 10 5436073 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_R210W,Missense_R250W exm806969 10 5436097 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_V202I,Missense_V242I exm806970 10 5436102 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_Q200R,Missense_Q240R exm806973 10 5436157 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_R182C,Missense_R222C exm806974 10 5436175 [C/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_V176L,Missense_V216L exm1681452 10 5436201 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_C167Y,Missense_C207Y exm806977 10 5436207 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_T165M,Missense_T205M exm806988 10 5436385 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Nonsense_R106X,Nonsense_R146X var_10_5436385 10 5436385 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Nonsense_R106X,Nonsense_R146X indel.11461 10 5436393 [I/D] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON rs7477292 10 5436800 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 Silent,Silent exm806999 10 5437345 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_R74H,Missense_R114H exm807000 10 5437351 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_R72Q,Missense_R112Q exm807005 10 5437382 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_G62R,Missense_G102R exm807009 10 5437414 [C/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_R51P,Missense_R91P exm807012 10 5437426 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_T47M,Missense_T87M exm1681455 10 5437430 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_R46W,Missense_R86W rs10795273 10 5441973 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 Silent,Silent exm807013 10 5442831 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_V35M,Missense_V75M exm807015 10 5442851 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Missense_H28R,Missense_H68R exm807018 10 5442951 [T/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Silent,Missense_V35I exm807021 10 5443007 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Silent,Missense_I16T exm2274391 10 5443028 [A/G] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Silent,Missense_I9T variant.11463 10 5443047 [A/C] NM_001171864,NM_024803 TUBAL3,TUBAL3 EXON Silent,Nonsense_E3X rs7477466 10 5446794 [T/C] rs3923348 10 5456840 [A/G] NM_001047160 NET1 Silent exm807038 10 5471143 [A/G] NM_001047160 NET1 EXON Missense_R69H exm807039 10 5471164 [T/A] NM_001047160 NET1 EXON Missense_V76D exm807044 10 5488814 [A/G] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Silent,Missense_E29G,Silent exm807053 10 5494334 [A/G] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Missense_R126H,Missense_R72H,Silent variant.11464 10 5494839 [T/C] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Nonsense_R184X,Nonsense_R130X,Silent rs11253185 10 5495157 [A/G] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 Silent,Silent,Silent exm2249281 10 5495218 [T/C] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Synonymous_Y200Y,Synonymous_Y146Y,Silent variant.11465 10 5496318 [T/C] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Nonsense_Q287X,Nonsense_Q233X,Silent rs10904506 10 5496697 [A/C] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 Silent,Silent,Silent exm807078 10 5497065 [A/G] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Missense_R394Q,Missense_R340Q,Silent exm807084 10 5498102 [T/C] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Missense_T417I,Missense_T363I,Silent exm2249282 10 5498681 [A/G] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Synonymous_S505S,Synonymous_S451S,Silent exm807105 10 5498724 [A/G] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Missense_E520K,Missense_E466K,Silent exm807107 10 5498752 [T/C] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Missense_A529V,Missense_A475V,Silent indel.11466 10 5498796 [I/D] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON exm807110 10 5498805 [A/G] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Missense_V547I,Missense_V493I,Silent exm807113 10 5498824 [T/C] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Missense_A553V,Missense_A499V,Silent exm807114 10 5498856 [A/G] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Missense_E564K,Missense_E510K,Silent exm807118 10 5498938 [A/G] NM_001047160,NM_005863,NR_073040 NET1,NET1,NET1 EXON Missense_R591Q,Missense_R537Q,Silent rs10737000 10 5509387 [T/C] rs10904511 10 5511869 [A/C] rs9423430 10 5522332 [A/G] rs11253199 10 5527716 [T/C] rs4471334 10 5537569 [A/G] exm807121 10 5541032 [A/G] NM_017422 CALML5 EXON Missense_R124C exm807131 10 5541230 [T/C] NM_017422 CALML5 EXON Missense_S58G exm807133 10 5541248 [A/G] NM_017422 CALML5 EXON Missense_L52F exm807135 10 5541277 [T/C] NM_017422 CALML5 EXON Missense_K42R exm807142 10 5541326 [T/C] NM_017422 CALML5 EXON Missense_G26S exm807143 10 5541332 [T/C] NM_017422 CALML5 EXON Missense_G24R exm807144 10 5541335 [T/C] NM_017422 CALML5 EXON Missense_D23N exm807145 10 5541337 [A/G] NM_017422 CALML5 EXON Missense_T22M rs4078294 10 5543835 [A/G] rs4075060 10 5544093 [T/C] rs12357686 10 5550673 [A/G] rs7474671 10 5554958 [T/C] exm2249284 10 5567111 [T/C] NR_120497,NR_120496,NM_005185 CALML3-AS1,CALML3-AS1,CALML3 EXON Silent,Silent,Synonymous_D21D exm807150 10 5567111 [T/C] NR_120497,NR_120496,NM_005185 CALML3-AS1,CALML3-AS1,CALML3 EXON Silent,Silent,Synonymous_D21D exm807153 10 5567142 [G/C] NR_120497,NR_120496,NM_005185 CALML3-AS1,CALML3-AS1,CALML3 EXON Silent,Silent,Missense_E32Q exm807157 10 5567247 [T/C] NR_120497,NR_120496,NM_005185 CALML3-AS1,CALML3-AS1,CALML3 EXON Silent,Silent,Missense_P67S rs6601975 10 5571354 [T/C] rs12572508 10 5580628 [T/C] rs4881475 10 5591025 [A/G] rs11253227 10 5594362 [T/G] rs4348801 10 5607759 [T/C] rs4881483 10 5610349 [T/C] rs9423451 10 5612132 [A/G] rs12262126 10 5618776 [A/G] rs11253241 10 5621628 [T/C] rs7898549 10 5629111 [A/G] rs11253250 10 5631737 [A/G] rs11597133 10 5631773 [A/G] rs7392864 10 5634775 [A/G] rs4747897 10 5642758 [T/G] rs4747916 10 5643044 [T/C] rs7350438 10 5643511 [T/C] rs7896306 10 5644983 [T/G] rs11595011 10 5645477 [T/C] rs4750500 10 5645758 [A/C] rs11259704 10 5646999 [T/C] rs4748295 10 5647942 [A/C] rs1539445 10 5651763 [A/G] rs7896078 10 5652277 [T/C] rs6602236 10 5654167 [T/C] rs6602289 10 5662915 [A/C] rs11255575 10 5663188 [A/G] rs12764801 10 5677076 [A/G] rs2386650 10 5678058 [A/G] rs11256474 10 5681783 [T/C] NR_024581,NM_024701,NR_037164 ASB13,ASB13,ASB13 EXON Silent,Silent,Silent exm807177 10 5682694 [T/C] NR_024581,NM_024701,NR_037164 ASB13,ASB13,ASB13 EXON Silent,Missense_R270Q,Silent exm807181 10 5683731 [A/C] NR_024581,NM_024701,NR_037164 ASB13,ASB13,ASB13 Silent,Silent,Silent exm807197 10 5683909 [A/G] NR_024581,NM_024701,NR_037164 ASB13,ASB13,ASB13 EXON Silent,Missense_A178V,Silent exm807199 10 5690938 [T/C] NR_024581,NM_024701,NR_037164 ASB13,ASB13,ASB13 EXON Silent,Missense_N171S,Silent exm807200 10 5690941 [A/T] NR_024581,NM_024701,NR_037164 ASB13,ASB13,ASB13 EXON Silent,Missense_L170H,Silent exm807203 10 5690972 [A/G] NR_024581,NM_024701,NR_037164 ASB13,ASB13,ASB13 EXON Silent,Missense_R160W,Silent exm807206 10 5691034 [A/C] NR_024581,NM_024701,NR_037164 ASB13,ASB13,ASB13 EXON Silent,Missense_V139G,Silent exm807207 10 5691048 [C/G] NR_024581,NM_024701,NR_037164 ASB13,ASB13,ASB13 EXON Silent,Missense_R134S,Silent rs2386647 10 5691135 [T/C] NR_024581,NM_024701,NR_037164 ASB13,ASB13,ASB13 Silent,Silent,Silent rs3750640 10 5696482 [A/G] NR_024581,NM_024701,NR_037164 ASB13,ASB13,ASB13 Silent,Silent,Silent rs871748 10 5701795 [T/C] NR_024581,NM_024701,NR_037164 ASB13,ASB13,ASB13 Silent,Silent,Silent rs871749 10 5701833 [A/G] NR_024581,NM_024701,NR_037164 ASB13,ASB13,ASB13 Silent,Silent,Silent exm2266954 10 5705900 [A/G] NR_024581,NM_024701,NR_037164 ASB13,ASB13,ASB13 Silent,Silent,Silent rs4750217 10 5705900 [A/G] NR_024581,NM_024701,NR_037164 ASB13,ASB13,ASB13 Silent,Silent,Silent rs2386637 10 5709909 [A/G] rs9423936 10 5734358 [A/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B Silent,Silent,Silent,Silent rs7908235 10 5739054 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B Silent,Silent,Silent,Silent rs11254266 10 5750078 [T/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B Silent,Silent,Silent,Silent exm1681688 10 5762725 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_R12C,Missense_R12C,Missense_R12C,Missense_R12C exm807242 10 5762876 [T/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_R30L,Missense_R30L,Missense_R30L,Missense_R30L exm807258 10 5768870 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_D125G,Missense_D125G,Missense_D125G,Missense_D125G exm807261 10 5769050 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_H151Y,Missense_H151Y,Missense_H151Y,Missense_H151Y exm807269 10 5772536 [A/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_K192Q,Missense_K192Q,Missense_K192Q,Missense_K192Q exm1681703 10 5772716 [T/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_C252G,Missense_C252G,Missense_C252G,Missense_C252G exm807283 10 5772824 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_P288S,Missense_P288S,Missense_P288S,Missense_P288S exm807286 10 5772920 [A/T] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_T320S,Missense_T320S,Missense_T320S,Missense_T320S indel.11471 10 5772963 [D/I] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON exm807289 10 5773026 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_M355T,Missense_M355T,Missense_M355T,Missense_M355T exm807290 10 5773034 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_M358V,Missense_M358V,Missense_M358V,Missense_M358V rs2890365 10 5773876 [A/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B Silent,Silent,Silent,Silent exm807301 10 5777432 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_K457R,Missense_K457R,Missense_K457R,Silent exm807305 10 5781628 [T/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_C499G,Missense_C499G,Missense_C499G,Missense_C418G exm1681711 10 5781716 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_N528S,Missense_N528S,Missense_N528S,Missense_N447S exm807315 10 5781800 [A/T] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_N556I,Missense_N556I,Missense_N556I,Missense_N475I exm807316 10 5781802 [A/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_L557I,Missense_L557I,Missense_L557I,Missense_L476I exm807319 10 5781902 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_T590I,Missense_T590I,Missense_T590I,Missense_T509I exm807322 10 5781967 [A/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_T612P,Missense_T612P,Missense_T612P,Missense_T531P exm807324 10 5782022 [A/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_A630D,Missense_A630D,Missense_A630D,Missense_A549D exm807329 10 5782115 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_T661I,Missense_T661I,Missense_T661I,Missense_T580I exm807330 10 5782130 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_K666R,Missense_K666R,Missense_K666R,Missense_K585R exm807338 10 5782310 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_R726H,Missense_R726H,Missense_R726H,Missense_R645H variant.11472 10 5782465 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B Silent,Silent,Silent,Silent exm807345 10 5784151 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_I807V,Missense_I807V,Missense_I807V,Missense_I726V exm807346 10 5784185 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_S818N,Missense_S818N,Missense_S818N,Missense_S737N exm807357 10 5784473 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_C914Y,Missense_C914Y,Missense_C914Y,Missense_C833Y exm807363 10 5788197 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_S938L,Missense_S938L,Missense_S938L,Missense_S857L exm807364 10 5788200 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_G939D,Missense_G939D,Missense_G939D,Missense_G858D exm807366 10 5788268 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_S962G,Missense_S962G,Missense_S962G,Missense_S881G exm807372 10 5788373 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_G997S,Missense_G997S,Missense_G997S,Missense_G916S exm807377 10 5788538 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_I1052V,Missense_I1052V,Missense_I1052V,Missense_I971V exm807379 10 5788583 [G/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_E1067Q,Missense_E1067Q,Missense_E1067Q,Missense_E986Q exm807380 10 5788608 [G/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_R1075P,Missense_R1075P,Missense_R1075P,Missense_R994P exm2217300 10 5788667 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_P1095S,Missense_P1095S,Missense_P1095S,Missense_P1014S exm807383 10 5788680 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_S1099L,Missense_S1099L,Missense_S1099L,Missense_S1018L exm807392 10 5788833 [G/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_S1150C,Missense_S1150C,Missense_S1150C,Missense_S1069C exm807396 10 5788878 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_A1165V,Missense_A1165V,Missense_A1165V,Missense_A1084V exm807397 10 5788887 [C/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_S1168C,Missense_S1168C,Missense_S1168C,Missense_S1087C exm2217302 10 5789000 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_V1206M,Missense_V1206M,Missense_V1206M,Missense_V1125M exm807421 10 5789418 [T/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_V1345G,Missense_V1345G,Missense_V1345G,Missense_V1264G exm807422 10 5789429 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_V1349M,Missense_V1349M,Missense_V1349M,Missense_V1268M exm807435 10 5789691 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_N1436S,Missense_N1436S,Missense_N1436S,Missense_N1355S exm807442 10 5789867 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_L1495F,Missense_L1495F,Missense_L1495F,Missense_L1414F exm807445 10 5789907 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_H1508R,Missense_H1508R,Missense_H1508R,Missense_H1427R exm2217304 10 5790116 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_P1578S,Missense_P1578S,Missense_P1578S,Missense_P1497S exm807459 10 5790279 [A/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_Q1632P,Missense_Q1632P,Missense_Q1632P,Missense_Q1551P exm807465 10 5790420 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_V1679A,Missense_V1679A,Missense_V1679A,Missense_V1598A exm807469 10 5790579 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_T1732M,Missense_T1732M,Missense_T1732M,Missense_T1651M indel.11473 10 5790598 [I/D] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON rs2797492 10 5790616 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Synonymous_L1744L,Synonymous_L1744L,Synonymous_L1744L,Synonymous_L1663L exm1681748 10 5790663 [C/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_T1760R,Missense_T1760R,Missense_T1760R,Missense_T1679R exm807471 10 5790711 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_V1776A,Missense_V1776A,Missense_V1776A,Missense_V1695A exm807472 10 5790729 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_T1782I,Missense_T1782I,Missense_T1782I,Missense_T1701I exm807473 10 5790738 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_C1785Y,Missense_C1785Y,Missense_C1785Y,Missense_C1704Y exm807487 10 5790890 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_G1836S,Missense_G1836S,Missense_G1836S,Missense_G1755S exm807488 10 5790915 [T/A] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_D1844V,Missense_D1844V,Missense_D1844V,Missense_D1763V var_10_5791013 10 5791013 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Nonsense_Q1877X,Nonsense_Q1877X,Nonsense_Q1877X,Nonsense_Q1796X exm807494 10 5791052 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_E1890K,Missense_E1890K,Missense_E1890K,Missense_E1809K exm807500 10 5791121 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_V1913I,Missense_V1913I,Missense_V1913I,Missense_V1832I variant.11475 10 5791130 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Nonsense_R1916X,Nonsense_R1916X,Nonsense_R1916X,Nonsense_R1835X exm807502 10 5791198 [C/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_M1938I,Missense_M1938I,Missense_M1938I,Missense_M1857I exm807505 10 5791211 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_G1943S,Missense_G1943S,Missense_G1943S,Missense_G1862S exm1681757 10 5791298 [G/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_Q1972E,Missense_Q1972E,Missense_Q1972E,Missense_Q1891E exm807509 10 5791299 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_Q1972R,Missense_Q1972R,Missense_Q1972R,Missense_Q1891R exm807510 10 5791326 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_R1981H,Missense_R1981H,Missense_R1981H,Missense_R1900H exm807511 10 5791364 [T/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_D1994Y,Missense_D1994Y,Missense_D1994Y,Missense_D1913Y exm807518 10 5791578 [T/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_S2065I,Missense_S2065I,Missense_S2065I,Missense_S1984I exm807529 10 5791895 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_V2171I,Missense_V2171I,Missense_V2171I,Missense_V2090I exm807531 10 5791979 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_V2199I,Missense_V2199I,Missense_V2199I,Missense_V2118I rs2669139 10 5794168 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B Silent,Silent,Silent,Silent exm807539 10 5799613 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_K2288R,Missense_K2288R,Missense_K2288R,Missense_K2207R exm807544 10 5800947 [A/T] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_E2328D,Missense_E2328D,Missense_E2328D,Missense_E2247D exm807546 10 5803274 [C/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_K2338N,Missense_K2338N,Missense_K2338N,Missense_K2257N exm807548 10 5803368 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_I2370V,Missense_I2370V,Missense_I2370V,Missense_I2289V exm1681780 10 5804509 [T/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_P2397S,Missense_P2397S,Missense_P2397S,Missense_P2316S exm807553 10 5804510 [A/C] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_P2397H,Missense_P2397H,Missense_P2397H,Missense_P2316H rs2797501 10 5804531 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_S2404N,Missense_S2404N,Missense_S2404N,Missense_S2323N exm807555 10 5804531 [A/G] NM_001321784,NM_001321783,NM_017782,NM_001321785 FAM208B,FAM208B,FAM208B,FAM208B EXON Missense_S2404N,Missense_S2404N,Missense_S2404N,Missense_S2323N rs1129614 10 5808086 [A/G] NM_001494,NM_001115156 GDI2,GDI2 EXON Synonymous_T407T,Synonymous_T362T exm807585 10 5810341 [A/G] NM_001494,NM_001115156 GDI2,GDI2 EXON Missense_R276C,Missense_R231C rs4748916 10 5820394 [T/C] NM_001494,NM_001115156 GDI2,GDI2 Silent,Silent rs10795544 10 5820897 [A/C] NM_001494,NM_001115156 GDI2,GDI2 Silent,Silent rs10795547 10 5827074 [A/G] NM_001494,NM_001115156 GDI2,GDI2 Silent,Silent exm807596 10 5827884 [T/C] NM_001494,NM_001115156 GDI2,GDI2 EXON Missense_K173R,Missense_K128R exm807601 10 5836849 [A/G] NM_001494,NM_001115156 GDI2,GDI2 EXON Synonymous_S129S,Silent rs7900361 10 5856984 [A/G] rs10508296 10 5864500 [A/C] rs11255499 10 5881740 [A/G] rs7098372 10 5886149 [T/C] exm-rs2380205 10 5886734 [T/C] rs907686 10 5900693 [A/G] rs12359234 10 5902711 [A/C] rs7071536 10 5903518 [T/G] rs1052420 10 5920121 [T/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_Q353R,Missense_Q353R,Silent exm807623 10 5920121 [T/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_Q353R,Missense_Q353R,Silent exm807628 10 5920195 [T/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Synonymous_Q328Q,Synonymous_Q328Q,Missense_S302N exm807632 10 5920244 [T/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_H312R,Missense_H312R,Missense_I286V variant.11476 10 5922256 [A/G] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 Silent,Silent,Silent rs615879 10 5924700 [A/G] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 Silent,Silent,Silent exm807638 10 5925016 [T/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_V268M,Missense_V268M,Missense_V268M variant.11477 10 5925052 [A/G] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Nonsense_R256X,Nonsense_R256X,Nonsense_R256X exm807660 10 5926032 [T/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_Y196C,Missense_Y196C,Missense_Y196C rs3750657 10 5926079 [A/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 Silent,Silent,Silent rs7919913 10 5926216 [A/G] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 Silent,Silent,Silent variant.11480 10 5929810 [A/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_A179S,Missense_A179S,Missense_A179S indel.11481 10 5929853 [D/I] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON variant.11482 10 5929884 [T/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_Q154R,Missense_Q154R,Missense_Q154R exm807672 10 5929962 [C/G] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_A128G,Missense_A128G,Missense_A128G rs2320 10 5930512 [T/G] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 Silent,Silent,Silent exm807677 10 5931011 [T/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_A103T,Missense_A103T,Missense_A103T exm807680 10 5931134 [T/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_M62V,Missense_M62V,Missense_M62V exm807681 10 5931158 [G/C] NM_019046,NM_001009941,NM_001009943 ANKRD16,ANKRD16,ANKRD16 EXON Missense_A54P,Missense_A54P,Missense_A54P exm1681852 10 5937039 [C/G] NM_001258452,NM_178150,NM_001258453,NM_032807 FBH1,FBH1,FBH1,FBH1 EXON Silent,Silent,Silent,Missense_V15L exm807701 10 5937094 [A/G] NM_001258452,NM_178150,NM_001258453,NM_032807 FBH1,FBH1,FBH1,FBH1 EXON Silent,Silent,Silent,Missense_H33R exm807710 10 5945091 [T/C] NM_001258452,NM_178150,NM_001258453,NM_032807 FBH1,FBH1,FBH1,FBH1 EXON Silent,Nonsense_R85X,Silent,Missense_P88L indel.11490 10 5945122 [I/D] NM_001258452,NM_178150,NM_001258453,NM_032807 FBH1,FBH1,FBH1,FBH1 EXON exm807712 10 5945129 [A/G] NM_001258452,NM_178150,NM_001258453,NM_032807 FBH1,FBH1,FBH1,FBH1 EXON Silent,Synonymous_E97E,Silent,Missense_G101R variant.11491 10 5947999 [T/G] NM_001258452,NM_178150,NM_001258453,NM_032807 FBH1,FBH1,FBH1,FBH1 Silent,Silent,Silent,Silent indel.11492 10 5948034 [D/I] NM_001258452,NM_178150,NM_001258453,NM_032807 FBH1,FBH1,FBH1,FBH1 EXON exm2217313 10 5948222 [T/C] NM_001258452,NM_178150,NM_001258453,NM_032807 FBH1,FBH1,FBH1,FBH1 EXON Missense_S53F,Synonymous_L175L,Missense_S53F,Missense_S178F exm807728 10 5948356 [T/C] NM_001258452,NM_178150,NM_001258453,NM_032807 FBH1,FBH1,FBH1,FBH1 EXON Missense_R98W,Synonymous_L219L,Missense_R98W,Missense_R223W exm807748 10 5951142 [A/G] NM_001258452,NM_178150,NM_001258453,NM_032807 FBH1,FBH1,FBH1,FBH1 EXON Missense_C228Y,Missense_A350T,Missense_C228Y,Missense_C353Y exm807763 10 5955763 [A/G] NM_001258452,NM_178150,NM_001258453,NM_032807 FBH1,FBH1,FBH1,FBH1 EXON Missense_Q348R,Missense_R470G,Missense_Q348R,Missense_Q473R exm807777 10 5957470 [A/G] NM_001258452,NM_178150,NM_001258453,NM_032807 FBH1,FBH1,FBH1,FBH1 EXON Missense_V427I,Synonymous_A548A,Missense_V427I,Missense_V552I exm807778 10 5957531 [A/G] NM_001258452,NM_178150,NM_001258453,NM_032807 FBH1,FBH1,FBH1,FBH1 EXON Missense_R447Q,Missense_G569R,Missense_R447Q,Missense_R572Q exm1681889 10 5959469 [T/C] NM_001258452,NM_178150,NM_001258453,NM_032807 FBH1,FBH1,FBH1,FBH1 EXON Synonymous_D551D,Missense_T673M,Synonymous_D551D,Synonymous_D676D exm807817 10 5965620 [A/G] NM_001258452,NM_178150,NM_001258453,NM_032807 FBH1,FBH1,FBH1,FBH1 EXON Missense_I713V,Missense_I834M,Missense_I713V,Missense_I838V exm807847 10 5978535 [C/G] NM_001258452,NM_178150,NM_001258453,NM_032807 FBH1,FBH1,FBH1,FBH1 EXON Missense_K925N,Missense_S1030T,Missense_K908N,Missense_K1033N exm-rs2669130 10 5982577 [T/C] rs2296135 10 5994694 [A/C] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2229135 10 5995052 [T/C] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm807866 10 5995147 [T/C] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Missense_V206I,Silent,Silent,Missense_V203I,Missense_V325I,Missense_V170I,Silent,Missense_V239I exm807874 10 5998405 [A/G] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Missense_T177M,Silent,Missense_T235M,Missense_T174M,Missense_T296M,Missense_T141M,Missense_T174M,Missense_T210M rs2296140 10 5998696 [T/C] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17320853 10 6000259 [T/C] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3136621 10 6001409 [A/G] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs3136618 10 6001696 [T/C] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm807880 10 6002368 [T/G] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Missense_N149T,Silent,Missense_N207T,Missense_N146T,Missense_N268T,Missense_N113T,Missense_N146T,Missense_N182T exm807884 10 6002459 [T/G] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Missense_L119M,Silent,Missense_L177M,Missense_L116M,Missense_L238M,Missense_L83M,Missense_L116M,Missense_L152M exm807885 10 6002470 [A/G] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Missense_P115L,Silent,Missense_P173L,Missense_P112L,Missense_P234L,Missense_P79L,Missense_P112L,Missense_P148L exm807887 10 6002518 [A/G] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Missense_S99L,Silent,Missense_S157L,Missense_S96L,Missense_S218L,Missense_S63L,Missense_S96L,Missense_S132L rs8177692 10 6004012 [T/C] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm807890 10 6005727 [T/C] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Silent,Silent,Silent,Missense_S85G,Missense_S207G,Silent,Missense_S85G,Missense_S121G exm807894 10 6005799 [G/C] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Silent,Silent,Silent,Missense_P61A,Missense_P183A,Silent,Missense_P61A,Missense_P97A exm807904 10 6008251 [T/C] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Missense_K47R,Silent,Missense_K105R,Missense_K11R,Missense_K133R,Missense_K11R,Missense_K11R,Missense_K47R exm807905 10 6008255 [T/C] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Missense_V46I,Silent,Missense_V104I,Missense_V10I,Missense_V132I,Missense_V10I,Missense_V10I,Missense_V46I exm807907 10 6008296 [A/G] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA EXON Missense_T32M,Silent,Missense_T90M,Silent,Missense_T118M,Silent,Silent,Missense_T32M rs7910212 10 6009126 [T/C] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7097780 10 6010227 [A/G] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_001351096,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs8177636 10 6018594 [T/C] NM_172200,NR_046362,NM_001351095,NM_001243539,NM_001256765,NM_001351097,NM_002189 IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA,IL15RA Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7904224 10 6028491 [A/G] rs7898880 10 6037553 [A/G] rs7911500 10 6037726 [T/C] rs10905599 10 6041923 [T/C] rs1408014 10 6048018 [T/C] rs12572257 10 6050630 [A/G] rs12722605 10 6053163 [T/A] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA EXON Silent,Silent,Silent rs12722600 10 6054765 [T/C] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA EXON Silent,Silent,Silent exm807915 10 6054839 [A/G] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA EXON Missense_I272T,Missense_I176T,Missense_I200T exm807919 10 6060053 [T/C] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA EXON Missense_V253I,Missense_V157I,Missense_V181I rs12722698 10 6060057 [A/G] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA EXON Synonymous_I251I,Synonymous_I155I,Synonymous_I179I exm807926 10 6061427 [C/G] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA EXON Missense_E231Q,Missense_E135Q,Missense_E159Q rs2228149 10 6063508 [A/G] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA EXON Synonymous_H172H,Silent,Silent rs7900744 10 6065611 [A/G] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA Silent,Silent,Silent exm807953 10 6066242 [T/C] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA EXON Missense_S111N,Missense_S111N,Missense_S111N exm807954 10 6066277 [T/A] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA EXON Missense_E99D,Missense_E99D,Missense_E99D exm807955 10 6066302 [A/G] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA EXON Missense_T91M,Missense_T91M,Missense_T91M rs7910961 10 6077796 [T/C] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA Silent,Silent,Silent rs11256433 10 6077845 [T/G] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA Silent,Silent,Silent rs4749926 10 6085312 [A/G] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA Silent,Silent,Silent rs706780 10 6087026 [A/C] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA Silent,Silent,Silent exm2266955 10 6088699 [A/G] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA Silent,Silent,Silent rs10905669 10 6092093 [T/C] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA Silent,Silent,Silent rs61839660 10 6094697 [T/C] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA Silent,Silent,Silent rs10795763 10 6096199 [T/G] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA Silent,Silent,Silent exm-rs706779 10 6098824 [T/C] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA Silent,Silent,Silent exm-rs2104286 10 6099045 [T/C] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA Silent,Silent,Silent exm-rs3118470 10 6101713 [T/C] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA Silent,Silent,Silent exm-rs12722489 10 6102012 [T/C] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA Silent,Silent,Silent rs12722489 10 6102012 [T/C] NM_000417,NM_001308243,NM_001308242 IL2RA,IL2RA,IL2RA Silent,Silent,Silent rs7072793 10 6106266 [T/C] rs7090512 10 6110829 [T/C] rs10905718 10 6114856 [A/G] rs4749955 10 6118966 [T/C] exm-rs12251307 10 6123495 [T/C] rs12251307 10 6123495 [T/C] rs3930531 10 6143619 [T/G] NM_032905,NM_001145547 RBM17,RBM17 Silent,Silent rs1073646 10 6164310 [A/C] rs1541020 10 6165030 [T/C] rs10905856 10 6167124 [T/C] rs7905816 10 6169272 [A/G] rs4310524 10 6171924 [A/G] rs7914915 10 6173416 [T/C] rs11256933 10 6173465 [A/G] rs10905879 10 6177083 [T/C] rs12219630 10 6177626 [T/C] rs12571538 10 6178961 [A/G] rs3763700 10 6181709 [T/C] rs3750671 10 6182423 [T/G] rs7074372 10 6188591 [A/G] NR_136554,NM_001145443,NM_001323016,NM_001282630 PFKFB3,PFKFB3,PFKFB3,PFKFB3 Silent,Silent,Silent,Silent rs7096344 10 6194476 [T/C] NR_136554,NM_001145443,NM_001323016,NM_001282630 PFKFB3,PFKFB3,PFKFB3,PFKFB3 Silent,Silent,Silent,Silent rs652318 10 6208465 [T/C] NR_136554,NM_001145443,NM_001323016,NM_001282630 PFKFB3,PFKFB3,PFKFB3,PFKFB3 Silent,Silent,Silent,Silent rs630204 10 6210655 [A/G] NR_136554,NM_001145443,NM_001323016,NM_001282630 PFKFB3,PFKFB3,PFKFB3,PFKFB3 Silent,Silent,Silent,Silent rs3814195 10 6213960 [T/C] NR_136554,NM_001145443,NM_001323016,NM_001282630 PFKFB3,PFKFB3,PFKFB3,PFKFB3 Silent,Silent,Silent,Silent rs658386 10 6215091 [A/C] NR_136554,NM_001145443,NM_001323016,NM_001282630 PFKFB3,PFKFB3,PFKFB3,PFKFB3 Silent,Silent,Silent,Silent rs11257103 10 6222819 [A/G] NR_136554,NM_001145443,NM_001323016,NM_001282630 PFKFB3,PFKFB3,PFKFB3,PFKFB3 Silent,Silent,Silent,Silent rs666595 10 6228226 [A/G] NR_136554,NM_001145443,NM_001323016,NM_001282630 PFKFB3,PFKFB3,PFKFB3,PFKFB3 Silent,Silent,Silent,Silent rs653659 10 6228878 [T/C] NR_136554,NM_001145443,NM_001323016,NM_001282630 PFKFB3,PFKFB3,PFKFB3,PFKFB3 Silent,Silent,Silent,Silent rs618982 10 6230178 [A/G] NR_136554,NM_001145443,NM_001323016,NM_001282630 PFKFB3,PFKFB3,PFKFB3,PFKFB3 Silent,Silent,Silent,Silent rs681966 10 6233300 [A/G] NR_136554,NM_001145443,NM_001323016,NM_001282630 PFKFB3,PFKFB3,PFKFB3,PFKFB3 Silent,Silent,Silent,Silent rs2516618 10 6253983 [A/G] NR_136554,NM_001145443,NM_001323016,NM_001282630,NM_001323017,NM_001314063,NM_004566,NM_001363545 PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm808024 10 6255624 [A/G] NR_136554,NM_001145443,NM_001323016,NM_001282630,NM_001323017,NM_001314063,NM_004566,NM_001363545 PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3 EXON Silent,Missense_V19I,Missense_V19I,Missense_V53I,Silent,Missense_V39I,Missense_V39I,Missense_V39I rs756567 10 6255931 [T/C] NR_136554,NM_001145443,NM_001323016,NM_001282630,NM_001323017,NM_001314063,NM_004566,NM_001363545 PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm808034 10 6257261 [A/G] NR_136554,NM_001145443,NM_001323016,NM_001282630,NM_001323017,NM_001314063,NM_004566,NM_001363545 PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3 EXON Silent,Missense_E74K,Missense_E74K,Missense_E108K,Silent,Missense_E94K,Missense_E94K,Missense_E94K exm808037 10 6257276 [T/C] NR_136554,NM_001145443,NM_001323016,NM_001282630,NM_001323017,NM_001314063,NM_004566,NM_001363545 PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3 EXON Silent,Missense_R79W,Missense_R79W,Missense_R113W,Silent,Missense_R99W,Missense_R99W,Missense_R99W rs2148294 10 6258052 [A/G] NR_136554,NM_001145443,NM_001323016,NM_001282630,NM_001323017,NM_001314063,NM_004566,NM_001363545 PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent var_10_6258137 10 6258137 [T/G] NR_136554,NM_001145443,NM_001323016,NM_001282630,NM_001323017,NM_001314063,NM_004566,NM_001363545 PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3 EXON Silent,Nonsense_E97X,Nonsense_E97X,Nonsense_E131X,Silent,Nonsense_E117X,Nonsense_E117X,Nonsense_E117X exm808046 10 6259099 [T/C] NR_136554,NM_001145443,NM_001323016,NM_001282630,NM_001323017,NM_001314063,NM_004566,NM_001363545 PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3 EXON Silent,Missense_A128V,Missense_A128V,Missense_A162V,Silent,Missense_A148V,Missense_A148V,Missense_A148V var_10_6261537 10 6261537 [T/G] NR_136554,NM_001145443,NM_001323016,NM_001282630,NM_001323017,NM_001314063,NM_004566,NM_001363545 PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3 EXON Silent,Synonymous_V148V,Synonymous_V148V,Synonymous_V182V,Silent,Synonymous_V168V,Synonymous_V168V,Synonymous_V168V exm808070 10 6262817 [T/C] NR_136554,NM_001145443,NM_001323016,NM_001282630,NM_001323017,NM_001314063,NM_004566,NM_001363545 PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3 EXON Silent,Missense_R254W,Missense_R254W,Missense_R288W,Missense_R91W,Missense_R274W,Missense_R274W,Missense_R274W exm808086 10 6263662 [T/C] NR_136554,NM_001145443,NM_001323016,NM_001282630,NM_001323017,NM_001314063,NM_004566,NM_001363545 PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3 EXON Silent,Missense_A326V,Missense_A326V,Missense_A360V,Missense_A163V,Missense_A346V,Missense_A346V,Missense_A346V exm808099 10 6265956 [A/G] NR_136554,NM_001145443,NM_001323016,NM_001282630,NM_001323017,NM_001314063,NM_004566,NM_001363545 PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3 EXON Silent,Missense_V397I,Missense_V397I,Missense_V431I,Missense_V234I,Missense_V417I,Missense_V417I,Missense_V417I exm808108 10 6268177 [T/C] NR_136554,NM_001145443,NM_001323016,NM_001282630,NM_001323017,NM_001314063,NM_004566,NM_001363545 PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3 EXON Silent,Missense_P435L,Missense_P435L,Missense_P469L,Missense_P272L,Missense_P455L,Missense_P455L,Missense_P455L exm2249303 10 6268277 [T/C] NR_136554,NM_001145443,NM_001323016,NM_001282630,NM_001323017,NM_001314063,NM_004566,NM_001363545 PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3 EXON Silent,Synonymous_A468A,Synonymous_A468A,Synonymous_A502A,Synonymous_A305A,Synonymous_A488A,Synonymous_A488A,Synonymous_A488A rs12255582 10 6271291 [T/C] NR_136554,NM_001145443,NM_001323016,NM_001282630,NM_001323017,NM_001314063,NM_004566,NM_001363545 PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2249304 10 6274890 [T/C] NR_136554,NM_001145443,NM_001323016,NM_001282630,NM_001323017,NM_001314063,NM_004566,NM_001363545 PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3,PFKFB3 EXON Silent,Synonymous_S496S,Silent,Synonymous_S530S,Synonymous_S333S,Silent,Synonymous_S516S,Silent rs11257470 10 6277556 [T/C] NM_001363545 PFKFB3 Silent rs11257472 10 6277661 [T/G] NM_001363545 PFKFB3 Silent rs10795936 10 6288042 [A/G] NM_001363545 PFKFB3 Silent rs10508301 10 6295548 [T/C] NM_001363545 PFKFB3 Silent rs7092772 10 6306289 [A/C] rs11596955 10 6307423 [A/C] rs10795949 10 6309175 [A/C] rs12220579 10 6313880 [A/G] rs7077335 10 6315794 [A/C] rs4237423 10 6323774 [A/G] rs4747994 10 6342636 [A/G] rs4750246 10 6342654 [T/G] rs7919234 10 6352975 [A/C] rs2021950 10 6358318 [A/G] rs11258006 10 6358786 [A/G] rs1557106 10 6362220 [A/G] rs2224781 10 6363557 [A/G] rs7096921 10 6370545 [T/C] NR_040079 LOC399715 EXON Silent rs4748017 10 6380627 [T/C] rs4750311 10 6387992 [A/C] rs7917676 10 6390107 [A/G] exm-rs947474 10 6390450 [A/G] rs17154307 10 6392683 [A/G] NR_148966 LOC399716 EXON Silent rs744254 10 6392848 [A/G] NR_148966 LOC399716 EXON Silent exm-rs4750316 10 6393260 [C/G] NR_148966 LOC399716 EXON Silent rs4558075 10 6401625 [T/C] rs4748026 10 6410125 [T/C] rs7092724 10 6424196 [T/C] rs7904311 10 6424490 [A/G] rs12763729 10 6427952 [A/G] rs12413588 10 6443404 [A/G] NM_001323267 PRKCQ Silent rs630027 10 6446095 [A/G] NM_001323267 PRKCQ Silent rs589142 10 6457597 [T/C] NM_001323267 PRKCQ Silent rs4750422 10 6459414 [T/C] NM_001323267 PRKCQ Silent rs667899 10 6464156 [A/G] NM_001323267 PRKCQ Silent exm808140 10 6470255 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ EXON Silent,Missense_D554N,Missense_D554N,Missense_D679N,Missense_D679N,Missense_D643N,Missense_D616N exm808146 10 6472782 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ EXON Missense_R616Q,Missense_R527Q,Missense_R527Q,Missense_R652Q,Missense_R652Q,Missense_R616Q,Missense_R589Q exm808152 10 6472833 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ EXON Missense_R599Q,Missense_R510Q,Missense_R510Q,Missense_R635Q,Missense_R635Q,Missense_R599Q,Missense_R572Q exm-rs11258747 10 6472891 [T/G] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ EXON Synonymous_R580R,Synonymous_R491R,Synonymous_R491R,Synonymous_R616R,Synonymous_R616R,Synonymous_R580R,Synonymous_R553R rs10796145 10 6474027 [A/G] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs677986 10 6477267 [A/G] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1682592 10 6484028 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ EXON Missense_K519E,Missense_K430E,Missense_K430E,Missense_K555E,Missense_K555E,Missense_K519E,Silent rs688391 10 6489652 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10508307 10 6497307 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs586457 10 6497422 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs636819 10 6499606 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs604663 10 6504126 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent exm808169 10 6506284 [G/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ EXON Missense_S443C,Missense_S354C,Missense_S354C,Missense_S479C,Missense_S479C,Missense_S443C,Missense_S479C rs2026432 10 6507603 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3793727 10 6508377 [A/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs658230 10 6508563 [A/G] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs591441 10 6511386 [A/G] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7080157 10 6512559 [A/G] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent exm808173 10 6520963 [A/G] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ EXON Synonymous_F412F,Synonymous_F323F,Synonymous_F323F,Synonymous_F448F,Synonymous_F448F,Synonymous_F412F,Synonymous_F448F rs3793729 10 6522506 [A/G] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent exm808178 10 6525521 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ EXON Missense_D318N,Missense_D229N,Missense_D229N,Missense_D354N,Missense_D354N,Missense_D318N,Missense_D354N exm808180 10 6527143 [A/G] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ EXON Missense_P294L,Missense_P205L,Missense_P205L,Missense_P330L,Missense_P330L,Missense_P294L,Missense_P330L exm808186 10 6527221 [A/G] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ EXON Missense_L268S,Missense_L179S,Missense_L179S,Missense_L304S,Missense_L304S,Missense_L268S,Missense_L304S variant.11508 10 6531359 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3815975 10 6533877 [A/G] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs648778 10 6534592 [A/G] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent exm808198 10 6539017 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ EXON Missense_I178V,Missense_I89V,Missense_I89V,Missense_I214V,Missense_I214V,Missense_I178V,Missense_I214V exm808212 10 6540431 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ EXON Missense_V121I,Missense_V32I,Missense_V32I,Missense_V157I,Missense_V157I,Missense_V121I,Missense_V157I exm808214 10 6540487 [C/G] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ EXON Missense_G102A,Missense_G13A,Missense_G13A,Missense_G138A,Missense_G138A,Missense_G102A,Missense_G138A rs7087802 10 6551732 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs571715 10 6556554 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent exm808243 10 6557071 [A/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ EXON Silent,Silent,Silent,Missense_L9F,Missense_L9F,Silent,Missense_L9F rs521153 10 6565099 [A/G] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2259619 10 6572225 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11259432 10 6578628 [A/G] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6602820 10 6596242 [A/G] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10752356 10 6600833 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4748153 10 6606541 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs943452 10 6615454 [T/C] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4620621 10 6616336 [A/G] NM_001323267,NM_001323266,NM_001282645,NM_001323265,NM_006257,NM_001282644,NM_001242413 PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ,PRKCQ Silent,Silent,Silent,Silent,Silent,Silent,Silent rs755627 10 6630095 [A/G] rs1041227 10 6643803 [T/C] rs1041226 10 6643851 [A/G] rs1409874 10 6650426 [T/C] rs10904616 10 6651941 [A/G] rs1409875 10 6655306 [A/G] rs1410135 10 6662135 [A/G] NR_120634 LOC101928150 Silent rs7089639 10 6666823 [A/G] NR_120634 LOC101928150 Silent rs11253689 10 6668830 [A/G] NR_120634 LOC101928150 Silent rs6602077 10 6685078 [A/G] rs7916225 10 6693011 [T/C] rs4339947 10 6695485 [A/G] rs17374045 10 6697086 [A/G] rs1475420 10 6698096 [T/C] rs17139562 10 6699193 [T/C] rs10904701 10 6702598 [T/C] rs2026628 10 6709658 [A/G] rs7091048 10 6714175 [T/C] rs11253940 10 6714257 [T/C] rs4237340 10 6714979 [T/G] rs17140077 10 6718305 [T/C] rs10508310 10 6720799 [A/G] rs12358653 10 6724940 [A/C] rs12242253 10 6725587 [T/G] rs2387595 10 6727538 [T/C] rs17394484 10 6736921 [A/C] rs4237341 10 6737384 [T/G] rs4748306 10 6738930 [A/G] rs17141058 10 6743781 [T/G] rs7099454 10 6756983 [A/G] rs1561875 10 6769130 [T/C] rs1442721 10 6771957 [T/C] rs2119984 10 6773835 [T/G] rs1992495 10 6778087 [T/C] rs353209 10 6782769 [A/G] rs353206 10 6784000 [T/C] rs353201 10 6786045 [T/C] rs12570744 10 6789463 [T/C] rs11591887 10 6793562 [A/G] rs4748360 10 6793861 [A/G] rs12570350 10 6795493 [A/G] rs4747299 10 6796743 [T/G] rs4747305 10 6813002 [A/C] rs894453 10 6816484 [T/C] NR_108074 LINC00706 EXON Silent rs2501686 10 6819487 [A/G] NR_108074 LINC00706 Silent rs2439903 10 6831860 [A/G] NR_038291 LINC00707 Silent rs4748386 10 6835673 [A/G] NR_038291 LINC00707 Silent rs10904989 10 6845237 [T/G] NR_038291 LINC00707 Silent rs11596811 10 6852441 [A/G] NR_038291 LINC00707 Silent rs11254757 10 6857219 [A/G] NR_038291 LINC00707 Silent rs10458810 10 6863484 [A/G] NR_038291 LINC00707 Silent rs7900770 10 6864171 [A/G] NR_038291 LINC00707 Silent rs7083059 10 6866042 [T/C] NR_038291 LINC00707 Silent rs920678 10 6880601 [A/G] NR_038291 LINC00707 Silent rs10905035 10 6883788 [A/G] NR_038291 LINC00707 EXON Silent rs7098268 10 6904180 [A/G] rs1470257 10 6910884 [A/G] rs10508317 10 6916628 [A/C] rs7081563 10 6925222 [T/C] rs17142139 10 6926362 [A/G] rs2501673 10 6937239 [T/C] rs11254864 10 6941948 [T/C] rs10905060 10 6944579 [T/C] exm-rs6602217 10 6946263 [T/C] rs2501677 10 6946752 [A/T] rs12243511 10 6947860 [T/C] rs9423753 10 6952227 [A/G] rs10795522 10 6952360 [T/G] rs2804121 10 6959112 [A/G] rs10905064 10 6962623 [A/G] rs2501683 10 6965134 [A/G] rs3886013 10 6968905 [T/C] rs2490689 10 6969816 [T/C] rs7086862 10 6985007 [A/G] rs11254900 10 6993426 [A/G] rs870871 10 6997213 [A/G] rs873814 10 6997298 [A/G] rs2387895 10 6997861 [T/C] exm2266956 10 7011967 [A/G] rs10905076 10 7012431 [T/C] rs1417032 10 7012462 [T/C] rs12415542 10 7014917 [A/G] rs4146431 10 7016064 [A/G] rs7917304 10 7021234 [A/G] rs11254923 10 7025379 [A/G] rs2804143 10 7028333 [A/C] rs882778 10 7028723 [T/C] rs1544156 10 7035823 [T/C] rs12415847 10 7039093 [T/C] rs2804133 10 7039552 [A/G] rs7070721 10 7042059 [T/G] rs11254946 10 7057152 [T/C] rs11254958 10 7071030 [T/C] rs12761228 10 7083369 [T/C] rs7909368 10 7084300 [A/C] rs6602224 10 7084468 [A/C] rs10905099 10 7089016 [A/G] rs4748667 10 7111871 [A/G] rs17142434 10 7117048 [T/C] rs6602225 10 7124442 [T/G] rs4748675 10 7141150 [A/G] rs2388030 10 7150098 [T/C] rs2388031 10 7150670 [T/C] rs2762576 10 7157486 [A/G] rs755648 10 7162312 [T/C] rs17331013 10 7167104 [A/G] rs2692781 10 7167173 [T/G] rs2762567 10 7167907 [T/C] rs2762559 10 7187815 [A/G] rs2247498 10 7193364 [T/C] rs1886283 10 7194683 [A/G] rs2497439 10 7199054 [T/C] rs10905113 10 7206424 [T/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent exm808259 10 7213000 [T/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Missense_E812K,Missense_E812K exm808260 10 7213014 [A/G] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Missense_T807M,Missense_T807M exm808289 10 7214505 [A/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Missense_Q701H,Missense_Q701H exm808296 10 7214584 [C/G] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Missense_P675R,Missense_P675R variant.11511 10 7218124 [T/G] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Nonsense_Y604X,Nonsense_Y604X rs2762613 10 7225045 [T/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent rs2692795 10 7230443 [A/G] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent exm808304 10 7230598 [A/G] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Missense_T599M,Missense_T599M rs2692801 10 7235805 [T/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent exm808314 10 7239629 [T/A] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Missense_C527S,Missense_C527S exm1684020 10 7262397 [A/G] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Missense_R436W,Missense_R436W exm808328 10 7262415 [T/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Missense_V430I,Missense_V430I exm808330 10 7262489 [T/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Missense_S405N,Missense_S405N rs10905119 10 7266521 [T/G] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent exm808331 10 7269821 [T/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Missense_R400Q,Missense_R400Q rs2025465 10 7273501 [T/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent rs10905124 10 7276215 [A/G] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent rs4997203 10 7281467 [T/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent rs13376827 10 7284169 [T/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent var_10_7285562 10 7285562 [A/G] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Nonsense_Q360X,Nonsense_Q360X exm808339 10 7285591 [T/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Missense_H350R,Missense_H350R exm808341 10 7285601 [T/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Missense_M347V,Missense_M347V rs2248474 10 7285632 [A/G] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Synonymous_D336D,Synonymous_D336D exm808349 10 7290605 [T/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Missense_A293T,Missense_A293T rs6602233 10 7306383 [T/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent rs1977427 10 7309735 [A/G] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent rs10905143 10 7315240 [T/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent rs7916739 10 7317984 [T/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent rs10905149 10 7339814 [A/G] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent rs7920106 10 7353133 [T/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent rs7900368 10 7358878 [T/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent rs2764387 10 7404033 [A/G] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent exm808370 10 7409686 [A/T] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Missense_C121S,Missense_C121S rs10905155 10 7411558 [A/G] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent newrs142871492 10 7412243 [A/G] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Synonymous_H65H,Synonymous_H65H exm808380 10 7412243 [A/G] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Synonymous_H65H,Synonymous_H65H rs10453997 10 7418147 [A/G] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent variant.11516 10 7423756 [A/C] NM_001018039,NM_001029880 SFMBT2,SFMBT2 Silent,Silent exm808392 10 7423829 [T/G] NM_001018039,NM_001029880 SFMBT2,SFMBT2 EXON Missense_Q11P,Missense_Q11P rs719810 10 7460252 [A/G] rs2249455 10 7463300 [T/C] rs2253674 10 7474760 [T/C] rs7077972 10 7480692 [A/C] rs2247502 10 7494290 [T/C] rs11255142 10 7498906 [T/G] rs2248165 10 7499528 [T/G] rs4747484 10 7506562 [A/C] rs2251881 10 7508117 [A/G] rs2255576 10 7514583 [T/G] rs2025573 10 7523660 [A/C] rs1157042 10 7526024 [A/G] rs2245658 10 7526447 [T/C] rs2245841 10 7527773 [T/C] rs2245977 10 7528721 [A/C] rs7923543 10 7529631 [T/C] rs12413476 10 7535756 [A/G] rs11591777 10 7549849 [A/G] rs2050352 10 7576231 [A/G] rs2892445 10 7578527 [T/C] rs7083911 10 7579089 [T/C] rs4749003 10 7583702 [A/C] rs3824658 10 7605067 [T/C] NM_032817,NM_030569 ITIH5,ITIH5 EXON Missense_R722Q,Missense_R936Q exm808400 10 7605101 [A/G] NM_032817,NM_030569 ITIH5,ITIH5 EXON Missense_F711S,Missense_F925S exm808405 10 7605146 [T/C] NM_032817,NM_030569 ITIH5,ITIH5 EXON Missense_N696S,Missense_N910S exm808408 10 7605243 [T/C] NM_032817,NM_030569 ITIH5,ITIH5 EXON Missense_V664I,Missense_V878I exm808410 10 7605263 [A/G] NM_032817,NM_030569 ITIH5,ITIH5 EXON Missense_V657A,Missense_V871A exm808417 10 7608070 [A/G] NM_032817,NM_030569 ITIH5,ITIH5 EXON Missense_A603V,Missense_A817V exm808426 10 7608301 [T/A] NM_032817,NM_030569 ITIH5,ITIH5 EXON Missense_Y526F,Missense_Y740F rs12267936 10 7611514 [T/C] NM_032817,NM_030569 ITIH5,ITIH5 Silent,Silent exm808433 10 7611670 [T/C] NM_032817,NM_030569 ITIH5,ITIH5 EXON Missense_G490R,Missense_G704R exm808434 10 7611678 [G/C] NM_032817,NM_030569 ITIH5,ITIH5 EXON Missense_G487A,Missense_G701A rs1537632 10 7617810 [T/C] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 Silent,Silent,Silent exm808451 10 7618440 [T/C] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_V438M,Missense_V652M,Missense_V652M exm808457 10 7618509 [A/G] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_R415C,Missense_R629C,Missense_R629C exm808460 10 7618556 [T/C] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_R399H,Missense_R613H,Missense_R613H exm808461 10 7618557 [G/C] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_R399G,Missense_R613G,Missense_R613G exm808462 10 7618569 [A/C] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_A395S,Missense_A609S,Missense_A609S exm808478 10 7618686 [T/G] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_T356P,Missense_T570P,Missense_T570P exm808481 10 7618739 [A/G] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_A338V,Missense_A552V,Missense_A552V exm808483 10 7618776 [T/C] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_I326V,Missense_I540V,Missense_I540V exm808493 10 7618934 [T/C] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_R273H,Missense_R487H,Missense_R487H exm808494 10 7618952 [A/G] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_P267L,Missense_P481L,Missense_P481L rs10458802 10 7618993 [A/G] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 Silent,Silent,Silent exm808505 10 7621730 [A/G] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_S255L,Missense_S469L,Missense_S469L exm808510 10 7621755 [T/C] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_V247M,Missense_V461M,Missense_V461M exm808511 10 7621757 [T/C] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_R246H,Missense_R460H,Missense_R460H exm808520 10 7621875 [T/G] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_N207H,Missense_N421H,Missense_N421H exm808521 10 7621892 [T/C] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_H201R,Missense_H415R,Missense_H415R exm808535 10 7622009 [A/G] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_A162V,Missense_A376V,Missense_A376V rs10905191 10 7622904 [T/C] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 Silent,Silent,Silent exm808544 10 7627957 [A/G] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_R125W,Missense_R339W,Missense_R339W variant.11527 10 7627996 [A/G] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Nonsense_R112X,Nonsense_R326X,Nonsense_R326X rs885548 10 7628419 [A/G] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 Silent,Silent,Silent rs7904044 10 7632504 [T/C] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 Silent,Silent,Silent rs10752113 10 7648190 [T/C] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 Silent,Silent,Silent rs1537628 10 7653065 [A/G] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 Silent,Silent,Silent exm808575 10 7659233 [A/G] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 EXON Missense_P8L,Missense_P222L,Missense_P222L rs11255241 10 7660490 [A/C] NM_032817,NM_030569,NM_001001851 ITIH5,ITIH5,ITIH5 Silent,Silent,Silent rs7921768 10 7672986 [T/C] NM_030569,NM_001001851 ITIH5,ITIH5 Silent,Silent rs17347867 10 7673498 [T/G] NM_030569,NM_001001851 ITIH5,ITIH5 Silent,Silent rs7086233 10 7674300 [T/C] NM_030569,NM_001001851 ITIH5,ITIH5 Silent,Silent exm808584 10 7679232 [A/G] NM_030569,NM_001001851 ITIH5,ITIH5 EXON Missense_P204L,Missense_P204L variant.11529 10 7679353 [A/G] NM_030569,NM_001001851 ITIH5,ITIH5 EXON Nonsense_Q164X,Nonsense_Q164X exm808596 10 7682770 [G/C] NM_030569,NM_001001851 ITIH5,ITIH5 EXON Missense_K116N,Missense_K116N exm808603 10 7684001 [T/C] NM_030569,NM_001001851 ITIH5,ITIH5 EXON Missense_R63H,Missense_R63H rs12769926 10 7684323 [A/G] NM_030569,NM_001001851 ITIH5,ITIH5 Silent,Silent rs17432951 10 7685743 [A/G] NM_030569,NM_001001851 ITIH5,ITIH5 Silent,Silent rs7094085 10 7702343 [A/G] NM_030569,NM_001001851 ITIH5,ITIH5 Silent,Silent rs7097970 10 7702595 [T/C] NM_030569,NM_001001851 ITIH5,ITIH5 Silent,Silent rs927915 10 7704917 [A/G] NM_030569,NM_001001851 ITIH5,ITIH5 Silent,Silent exm2264379 10 7722848 [A/C] rs7897216 10 7722848 [A/C] rs719748 10 7731885 [A/G] rs7917456 10 7732323 [A/G] rs11255291 10 7736904 [T/C] exm808621 10 7745411 [T/C] NM_002216 ITIH2 EXON Missense_T5M newrs139142754 10 7747145 [A/G] NM_002216 ITIH2 EXON Synonymous_Q53Q exm808632 10 7749164 [A/C] NM_002216 ITIH2 EXON Synonymous_R54R exm808633 10 7749183 [T/C] NM_002216 ITIH2 EXON Missense_S60L variant.11533 10 7749196 [A/G] NM_002216 ITIH2 EXON Missense_M64I rs11255299 10 7749908 [T/C] NM_002216 ITIH2 Silent exm808638 10 7751018 [A/G] NM_002216 ITIH2 EXON Missense_K76E exm808649 10 7751155 [C/G] NM_002216 ITIH2 Silent variant.11537 10 7751159 [A/G] NM_002216 ITIH2 Silent rs2026609 10 7751626 [A/G] NM_002216 ITIH2 Silent exm2259636 10 7755623 [T/G] NM_002216 ITIH2 Silent rs4747574 10 7755623 [T/G] NM_002216 ITIH2 Silent exm808658 10 7759650 [A/G] NM_002216 ITIH2 EXON Missense_V177M rs6602267 10 7759926 [T/C] NM_002216 ITIH2 Silent rs1887332 10 7760367 [A/G] NM_002216 ITIH2 Silent exm808675 10 7763661 [A/G] NM_002216 ITIH2 EXON Missense_N263S exm808677 10 7763669 [G/C] NM_002216 ITIH2 EXON Missense_E266Q exm2276974 10 7763676 [A/C] NM_002216 ITIH2 EXON Missense_A268E rs927917 10 7764338 [A/G] NM_002216 ITIH2 Silent exm808683 10 7765492 [A/G] NM_002216 ITIH2 EXON Missense_D316N exm808684 10 7765529 [A/G] NM_002216 ITIH2 EXON Missense_Q328R exm808686 10 7768968 [C/G] NM_002216 ITIH2 EXON Missense_S347C variant.11542 10 7768994 [T/C] NM_002216 ITIH2 EXON Nonsense_R356X variant.11543 10 7769001 [A/G] NM_002216 ITIH2 EXON Nonsense_W358X exm808690 10 7769043 [A/G] NM_002216 ITIH2 EXON Missense_D372G indel.11544 10 7769045 [D/I] NM_002216 ITIH2 EXON variant.11545 10 7769086 [T/G] NM_002216 ITIH2 Silent exm808692 10 7769666 [A/G] NM_002216 ITIH2 EXON Missense_G385D exm808694 10 7769693 [A/G] NM_002216 ITIH2 EXON Missense_R394Q exm808700 10 7769749 [A/G] NM_002216 ITIH2 EXON Missense_V413I rs3858256 10 7770222 [A/G] NM_002216 ITIH2 Silent exm808708 10 7771947 [A/G] NM_002216 ITIH2 EXON Missense_V438I exm808712 10 7772035 [A/G] NM_002216 ITIH2 EXON Missense_N467S exm808720 10 7773836 [A/G] NM_002216 ITIH2 EXON Synonymous_T508T exm2249373 10 7773836 [A/G] NM_002216 ITIH2 EXON Synonymous_T508T indel.11548 10 7773935 [I/D] NM_002216 ITIH2 EXON exm808725 10 7773942 [A/G] NM_002216 ITIH2 EXON Missense_V544I indel.11549 10 7773961 [I/D] NM_002216 ITIH2 newrs146878856 10 7774310 [T/C] NM_002216 ITIH2 EXON Nonsense_Q553X exm808729 10 7774317 [T/C] NM_002216 ITIH2 EXON Missense_V555A exm808733 10 7774358 [C/G] NM_002216 ITIH2 EXON Missense_L569V exm808734 10 7774364 [A/G] NM_002216 ITIH2 EXON Missense_K571E exm808738 10 7774397 [A/G] NM_002216 ITIH2 EXON Missense_K582E variant.11551 10 7774439 [T/C] NM_002216 ITIH2 EXON Nonsense_R596X exm808741 10 7776959 [T/C] NM_002216 ITIH2 EXON Missense_I621T exm808742 10 7776968 [T/C] NM_002216 ITIH2 EXON Missense_P624L exm808750 10 7780585 [C/G] NM_002216 ITIH2 EXON Synonymous_G653G exm808755 10 7780628 [T/C] NM_002216 ITIH2 EXON Missense_S668P exm808756 10 7780646 [C/G] NM_002216 ITIH2 EXON Missense_P674A exm808767 10 7785184 [G/C] NM_002216 ITIH2 EXON Missense_P724R exm1685528 10 7786087 [A/G] NM_002216 ITIH2 EXON Missense_N751S exm808776 10 7786103 [A/C] NM_002216 ITIH2 EXON Missense_S756R exm808780 10 7786234 [T/C] NM_002216 ITIH2 EXON Missense_T800M exm808782 10 7786236 [A/C] NM_002216 ITIH2 EXON Missense_N801H exm808784 10 7786772 [G/C] NM_002216 ITIH2 EXON Missense_K809N exm808788 10 7786861 [T/C] NM_002216 ITIH2 EXON Missense_V839A indel.11554 10 7788580 [I/D] NM_002216 ITIH2 EXON exm808791 10 7788585 [A/G] NM_002216 ITIH2 EXON Missense_I871V rs2038993 10 7788958 [A/G] NM_002216 ITIH2 Silent rs11255332 10 7790894 [T/C] NM_002216 ITIH2 Silent variant.11555 10 7791149 [A/G] NM_002216 ITIH2 Silent indel.11556 10 7791155 [D/I] NM_002216 ITIH2 EXON indel.11557 10 7791156 [D/I] NM_002216 ITIH2 EXON exm808796 10 7791218 [A/G] NM_002216 ITIH2 EXON Missense_N921S exm808801 10 7791290 [A/G] NM_002216 ITIH2 EXON Missense_R945Q rs2104575 10 7796681 [T/C] NM_012311,NR_045609 KIN,KIN EXON Silent,Silent exm2273461 10 7798033 [T/A] NM_012311,NR_045609 KIN,KIN EXON Silent,Silent rs11255344 10 7800881 [T/C] NM_012311,NR_045609 KIN,KIN Silent,Silent exm2217509 10 7801905 [A/G] NM_012311,NR_045609 KIN,KIN EXON Missense_T356I,Silent variant.11559 10 7804415 [T/C] NM_012311,NR_045609 KIN,KIN Silent,Silent rs2026612 10 7805481 [T/C] NM_012311,NR_045609 KIN,KIN Silent,Silent exm1685548 10 7808018 [A/G] NM_012311,NR_045609 KIN,KIN EXON Missense_P283S,Silent rs3736968 10 7808086 [T/C] NM_012311,NR_045609 KIN,KIN Silent,Silent rs12761309 10 7810017 [A/G] NM_012311,NR_045609 KIN,KIN Silent,Silent exm1685555 10 7816851 [A/G] NM_012311,NR_045609 KIN,KIN EXON Missense_T204M,Silent indel.11560 10 7820916 [D/I] NM_012311,NR_045609 KIN,KIN EXON rs11255363 10 7822015 [T/G] NM_012311,NR_045609 KIN,KIN Silent,Silent exm808844 10 7822022 [T/C] NM_012311,NR_045609 KIN,KIN EXON Missense_E125K,Silent exm1685558 10 7822263 [A/G] NM_012311,NR_045609 KIN,KIN EXON Nonsense_R73X,Silent rs4363498 10 7825530 [T/C] NM_012311,NR_045609 KIN,KIN Silent,Silent rs2802460 10 7829037 [T/C] NM_012311,NR_045609 KIN,KIN Silent,Silent rs1244414 10 7836104 [T/C] NM_001001973,NM_001320886,NM_005174 ATP5F1C,ATP5F1C,ATP5F1C Silent,Silent,Silent rs1244422 10 7838932 [T/C] NM_001001973,NM_001320886,NM_005174 ATP5F1C,ATP5F1C,ATP5F1C Silent,Silent,Silent exm808875 10 7839111 [T/C] NM_001001973,NM_001320886,NM_005174 ATP5F1C,ATP5F1C,ATP5F1C EXON Missense_P65S,Missense_P18S,Missense_P65S exm808879 10 7840983 [T/C] NM_001001973,NM_001320886,NM_005174 ATP5F1C,ATP5F1C,ATP5F1C EXON Missense_P85L,Missense_P38L,Missense_P85L indel.11564 10 7841783 [D/I] NM_001001973,NM_001320886,NM_005174 ATP5F1C,ATP5F1C,ATP5F1C EXON exm808887 10 7841811 [A/G] NM_001001973,NM_001320886,NM_005174 ATP5F1C,ATP5F1C,ATP5F1C EXON Missense_I169V,Missense_I122V,Missense_I169V rs12770829 10 7842900 [T/C] NM_001001973,NM_001320886,NM_005174 ATP5F1C,ATP5F1C,ATP5F1C Silent,Silent,Silent variant.11565 10 7844248 [A/G] NM_001001973,NM_001320886,NM_005174 ATP5F1C,ATP5F1C,ATP5F1C EXON Missense_Y218C,Missense_Y171C,Missense_Y218C rs4655 10 7849688 [T/C] NM_001001973,NM_001320886,NM_005174 ATP5F1C,ATP5F1C,ATP5F1C EXON Silent,Silent,Silent rs11255374 10 7859156 [A/G] exm808920 10 7866419 [A/G] NM_031923 TAF3 EXON Missense_S102N rs9664026 10 7878585 [T/C] NM_031923 TAF3 Silent rs2802457 10 7886084 [A/G] NM_031923 TAF3 Silent rs10905239 10 7899231 [T/C] NM_031923 TAF3 Silent rs1041541 10 7922269 [T/G] NM_031923 TAF3 Silent rs1244461 10 7923508 [A/G] NM_031923 TAF3 Silent rs10508338 10 7935761 [T/C] NM_031923 TAF3 Silent rs10508339 10 7951445 [A/G] NM_031923 TAF3 Silent rs4749353 10 7961064 [T/C] NM_031923 TAF3 Silent rs3858258 10 7989049 [T/G] NM_031923 TAF3 Silent exm808928 10 8005959 [T/G] NM_031923 TAF3 EXON Missense_D162E exm808929 10 8005988 [A/G] NM_031923 TAF3 EXON Missense_D172G exm808937 10 8006266 [A/G] NM_031923 TAF3 EXON Missense_T265A exm808938 10 8006338 [A/G] NM_031923 TAF3 EXON Missense_A289T exm808944 10 8006461 [T/A] NM_031923 TAF3 EXON Missense_I330F exm808950 10 8006519 [G/C] NM_031923 TAF3 EXON Missense_S349T exm2274392 10 8006547 [C/G] NM_031923 TAF3 EXON Missense_Q358H exm2249383 10 8006631 [A/G] NM_031923 TAF3 EXON Synonymous_T386T exm808959 10 8006798 [A/G] NM_031923 TAF3 EXON Missense_N442S rs4747647 10 8006798 [A/G] NM_031923 TAF3 EXON Missense_N442S exm808965 10 8006953 [T/C] NM_031923 TAF3 EXON Missense_S494P rs11255468 10 8018046 [A/G] NM_031923 TAF3 Silent exm809000 10 8019223 [T/C] NM_031923 TAF3 EXON Missense_A751V rs7894336 10 8026609 [T/C] NM_031923 TAF3 Silent rs768166 10 8047550 [T/G] NM_031923 TAF3 Silent exm809016 10 8051250 [T/C] NM_031923 TAF3 EXON Missense_A842V rs430753 10 8074437 [A/C] rs1271899 10 8092186 [T/C] exm-rs501764 10 8093034 [T/G] NR_024256,NR_104330,NR_104329,NR_104328 GATA3-AS1,GATA3-AS1,GATA3-AS1,GATA3-AS1 EXON Silent,Silent,Silent,Silent exm809086 10 8100750 [A/G] NM_002051,NM_001002295 GATA3,GATA3 EXON Missense_G242S,Missense_G242S rs3802604 10 8102272 [A/G] NM_002051,NM_001002295 GATA3,GATA3 Silent,Silent rs3824662 10 8104208 [A/C] NM_002051,NM_001002295 GATA3,GATA3 Silent,Silent rs568727 10 8106701 [A/C] NM_002051,NM_001002295 GATA3,GATA3 Silent,Silent rs569421 10 8108592 [T/C] NM_002051,NM_001002295 GATA3,GATA3 Silent,Silent rs9746 10 8116503 [A/G] NM_002051,NM_001002295 GATA3,GATA3 EXON Silent,Silent rs2664909 10 8131840 [A/G] rs12776126 10 8137383 [T/G] rs11255520 10 8138906 [T/C] rs1514230 10 8142012 [A/G] rs2671306 10 8142617 [A/G] rs1704279 10 8168485 [T/C] rs1243977 10 8179864 [T/C] rs2892530 10 8187989 [A/C] rs10905291 10 8194751 [T/C] rs2664904 10 8200390 [T/G] rs1999975 10 8203475 [T/G] rs10905304 10 8209098 [A/C] rs4749669 10 8211676 [T/C] rs548966 10 8213413 [T/C] rs17449616 10 8216423 [A/G] rs559872 10 8220268 [A/G] rs11814009 10 8223674 [A/G] rs10905311 10 8224786 [T/C] rs521331 10 8224850 [T/C] rs1416560 10 8231720 [A/G] rs1779643 10 8233615 [A/C] rs2489253 10 8237770 [T/C] rs568057 10 8245150 [A/G] rs1779640 10 8247228 [A/G] rs1538512 10 8255232 [A/G] rs1416566 10 8258675 [A/G] rs10905324 10 8263831 [T/C] rs494602 10 8270890 [T/G] rs1936490 10 8279913 [A/G] rs1779648 10 8286284 [A/C] rs11255598 10 8286993 [A/C] rs17465422 10 8287240 [A/G] rs10905328 10 8304149 [A/G] NR_108058 LINC00708 Silent rs11255607 10 8307583 [A/C] NR_108058 LINC00708 Silent rs17143382 10 8312604 [A/G] rs10905335 10 8316529 [T/C] rs11599385 10 8323017 [A/G] rs6602294 10 8324268 [T/G] rs11255615 10 8324889 [T/C] rs4749728 10 8331078 [T/G] exm-rs946028 10 8348329 [A/G] rs11255628 10 8350343 [T/C] rs1999874 10 8353101 [A/G] rs7896001 10 8357299 [A/G] rs7076802 10 8362697 [A/G] rs10508350 10 8378782 [T/C] rs17136597 10 8382415 [A/C] rs11814860 10 8388512 [T/C] rs4747790 10 8390490 [T/C] exm2266957 10 8392174 [A/G] rs10905349 10 8394080 [A/G] rs7081521 10 8398914 [T/C] rs2787150 10 8401112 [T/C] rs11255659 10 8408629 [A/C] rs12778305 10 8420018 [T/G] rs998139 10 8425531 [A/G] rs2935669 10 8433977 [T/G] rs2787131 10 8434664 [T/C] rs17469061 10 8436432 [T/G] rs1415882 10 8439744 [T/G] rs2787138 10 8442757 [T/G] rs10905357 10 8449327 [T/C] rs17143607 10 8453142 [A/G] rs11255686 10 8456007 [A/C] rs2646422 10 8463376 [T/C] rs2454062 10 8464847 [A/G] rs2646419 10 8465926 [A/C] rs7090925 10 8479868 [A/G] rs7921806 10 8480488 [T/C] rs11255703 10 8496389 [A/G] rs4237397 10 8500122 [A/G] exm2267077 10 8508228 [A/G] rs10795626 10 8509544 [T/C] rs11255707 10 8509762 [T/G] rs11255711 10 8511462 [A/G] rs11255712 10 8511627 [A/G] rs12785018 10 8515348 [T/C] rs7090140 10 8518880 [A/G] rs4540753 10 8519559 [T/C] rs7904468 10 8523708 [T/G] rs4749765 10 8529115 [A/G] rs12569700 10 8530042 [T/C] rs4747795 10 8534603 [A/G] rs10752138 10 8538492 [T/C] exm2249402 10 8545524 [A/G] rs4749774 10 8548066 [T/C] rs4749775 10 8548140 [A/G] rs12358236 10 8550847 [A/G] rs11255728 10 8552196 [T/G] rs11255731 10 8553138 [A/G] rs7922051 10 8555318 [A/G] rs2646386 10 8561142 [A/G] rs2646387 10 8561880 [A/C] rs10905399 10 8563593 [A/G] rs2646438 10 8565675 [A/G] rs12416202 10 8567889 [T/C] rs2765410 10 8572238 [T/C] rs4749779 10 8576206 [A/G] rs17481499 10 8576721 [T/C] rs1830951 10 8578342 [A/C] rs6602325 10 8583805 [A/G] rs4747803 10 8592821 [T/C] rs2031557 10 8611014 [T/G] rs7101305 10 8611179 [T/C] exm-rs7101305 10 8611179 [T/C] rs10795659 10 8616127 [T/C] NR_134492 LOC105376398 Silent rs7921734 10 8628416 [T/C] NR_134492 LOC105376398 Silent rs10905411 10 8638679 [A/C] rs12413367 10 8638744 [A/G] rs9787692 10 8645163 [T/G] rs10752143 10 8646048 [T/C] rs11255779 10 8663783 [T/C] rs7083359 10 8682679 [T/C] rs17144248 10 8692115 [A/G] rs7918220 10 8694069 [A/C] rs10905437 10 8695795 [A/G] rs706770 10 8696383 [T/C] rs706771 10 8696446 [A/G] exm-rs10795668 10 8701219 [A/G] rs4508106 10 8709338 [T/G] rs10905440 10 8715144 [T/C] rs1537603 10 8734295 [T/C] rs7898455 10 8738908 [T/G] rs17408580 10 8754969 [T/C] rs12250379 10 8762195 [T/C] rs12259226 10 8766942 [T/C] rs958934 10 8767434 [A/G] rs10752146 10 8775730 [A/G] rs7908673 10 8786636 [A/G] rs3897990 10 8788270 [A/G] rs8181367 10 8795245 [T/C] rs979534 10 8796596 [T/C] rs9665552 10 8811034 [T/C] rs12220112 10 8812755 [T/C] rs2243792 10 8826990 [T/C] rs17502419 10 8834391 [T/C] rs7069425 10 8840705 [T/C] rs17144595 10 8845104 [A/G] rs2483935 10 8851255 [T/C] rs1577218 10 8855244 [A/G] rs10905471 10 8857322 [T/G] rs1018729 10 8858346 [A/C] rs12248916 10 8866290 [T/C] rs978283 10 8903427 [T/C] rs1373614 10 8919297 [A/G] rs290898 10 8933437 [T/C] rs1028827 10 8951090 [T/C] NR_131944 LOC105755953 Silent rs11255973 10 8952873 [A/G] NR_131944 LOC105755953 Silent rs1857231 10 8961614 [A/G] rs895068 10 8966406 [T/G] rs1243411 10 8969802 [A/C] rs10508372 10 8972018 [A/G] rs1243399 10 8976707 [T/C] rs7902767 10 8982241 [A/C] rs10508374 10 8988073 [T/G] rs827618 10 9003997 [T/G] rs827637 10 9010624 [A/G] rs827634 10 9013778 [A/G] rs11255999 10 9013939 [T/G] rs10795685 10 9017944 [T/G] rs827628 10 9020234 [T/C] rs4747817 10 9024136 [T/C] rs1243438 10 9028677 [T/G] rs7922444 10 9034758 [T/C] rs12765699 10 9035786 [A/G] rs4749831 10 9041722 [T/C] rs2197415 10 9062856 [T/G] rs1612986 10 9064716 [T/C] rs1342766 10 9074500 [T/G] rs1623646 10 9076230 [T/C] rs4747819 10 9081709 [T/C] rs860418 10 9091900 [T/C] rs860419 10 9092862 [T/G] rs10795690 10 9108543 [A/C] rs11256060 10 9140415 [T/C] rs7898051 10 9164684 [A/G] rs9424040 10 9174790 [T/C] rs1149927 10 9191149 [T/C] rs1149936 10 9196330 [A/G] rs1149938 10 9200102 [T/G] rs1242987 10 9223424 [T/C] rs7072112 10 9236727 [T/C] rs1242976 10 9238010 [A/G] exm2266959 10 9238010 [A/G] rs1469993 10 9247586 [A/G] NR_120635 LOC101928272 Silent rs7911451 10 9248331 [A/G] NR_120635 LOC101928272 Silent rs1242973 10 9255870 [T/G] NR_120635 LOC101928272 Silent rs1469994 10 9260792 [T/C] NR_120635 LOC101928272 Silent rs4749844 10 9286568 [T/C] NR_120635 LOC101928272 Silent rs1143869 10 9293290 [T/C] NR_120635 LOC101928272 Silent rs12245918 10 9301624 [T/C] NR_120635 LOC101928272 Silent rs1242756 10 9302625 [T/C] NR_120635 LOC101928272 Silent rs10795704 10 9325312 [A/G] NR_120635,NR_108039 LOC101928272,LINC00709 Silent,Silent rs1149966 10 9330817 [A/G] NR_120635 LOC101928272 Silent rs17558155 10 9337376 [A/C] NR_120635 LOC101928272 Silent rs17638790 10 9337386 [A/G] NR_120635 LOC101928272 Silent rs1149995 10 9355301 [A/G] rs1149998 10 9356003 [A/C] rs1150010 10 9357949 [T/C] rs1150023 10 9360823 [A/C] rs12247397 10 9363877 [A/G] rs1150034 10 9368879 [T/C] rs1150037 10 9369531 [A/G] rs12773435 10 9373946 [T/C] rs2147296 10 9377513 [T/C] rs12784138 10 9381652 [A/G] exm2271375 10 9399473 [T/C] rs1998596 10 9399473 [T/C] rs1762757 10 9409770 [T/C] rs10905548 10 9428807 [A/C] rs17146039 10 9448569 [T/C] rs12783041 10 9459295 [T/C] rs10508394 10 9481842 [A/C] rs915254 10 9511933 [A/G] rs4749872 10 9533300 [A/G] rs7916168 10 9550386 [A/G] rs2038813 10 9577963 [T/C] rs1555732 10 9590060 [T/C] rs10905580 10 9594872 [T/C] rs1324882 10 9604930 [A/G] rs6602361 10 9605649 [T/C] rs1324886 10 9615467 [T/C] rs10508393 10 9617015 [A/G] rs4749884 10 9644800 [A/C] rs11592618 10 9651244 [A/G] rs10905597 10 9677810 [T/C] rs12570090 10 9710675 [T/C] rs12777207 10 9720181 [T/C] rs2027296 10 9736439 [T/C] rs7071857 10 9749448 [T/G] rs10752172 10 9776166 [A/G] rs17146359 10 9778195 [T/C] rs12414761 10 9790386 [A/G] rs10795744 10 9802634 [T/C] rs913056 10 9804989 [T/G] rs1926226 10 9815411 [A/C] rs11256338 10 9823594 [A/G] rs11256347 10 9848073 [A/G] rs7081045 10 9852429 [A/C] rs10905625 10 9863986 [T/G] rs7910576 10 9870680 [T/C] rs11256351 10 9870792 [T/C] rs2153297 10 9910342 [T/C] rs2050777 10 9934144 [T/C] rs7095367 10 9943083 [T/C] rs4749908 10 9944159 [A/C] rs1339678 10 9951762 [A/C] rs17146745 10 9967519 [T/C] rs7911962 10 9968483 [T/C] exm2271251 10 9975098 [T/C] rs10218944 10 9987130 [A/G] rs871158 10 9988716 [T/C] rs4360594 10 10007547 [A/G] rs7915729 10 10020381 [A/G] rs11499250 10 10021054 [T/C] rs11256432 10 10043822 [T/C] rs12570537 10 10045642 [A/G] rs11256450 10 10061134 [A/G] rs2762637 10 10094837 [A/G] rs11256470 10 10101344 [T/C] NR_120636 LOC101928298 EXON Silent rs2209293 10 10108651 [A/G] rs715814 10 10117897 [T/C] rs12264789 10 10136166 [T/C] rs12356435 10 10136473 [A/G] rs7089778 10 10136486 [T/G] rs7090158 10 10136768 [A/G] rs1012131 10 10155884 [A/G] exm2259509 10 10160039 [A/G] rs4747847 10 10160846 [T/C] rs991956 10 10171642 [T/C] rs4622161 10 10189194 [T/G] rs10905670 10 10190595 [A/C] rs7899795 10 10194617 [A/C] rs9423818 10 10195010 [T/C] rs10905673 10 10216373 [A/G] rs7083994 10 10228684 [A/G] rs2819042 10 10230151 [A/C] rs2819041 10 10230394 [A/G] rs2759635 10 10234643 [A/G] rs2819035 10 10237192 [A/G] rs2025276 10 10237641 [T/G] rs1570411 10 10240975 [T/C] rs7920248 10 10254086 [T/C] rs12257923 10 10261530 [A/G] rs7068043 10 10263037 [T/C] rs7079940 10 10270261 [T/G] rs10905701 10 10305616 [A/G] rs4749944 10 10310509 [T/C] rs10905707 10 10321874 [A/G] rs17455682 10 10324589 [A/G] rs1889257 10 10334623 [T/C] rs12258450 10 10340709 [A/G] rs4747852 10 10364529 [T/G] rs7905167 10 10375562 [A/G] rs7900897 10 10395026 [T/C] rs7896031 10 10403468 [A/G] rs11256576 10 10405808 [T/C] rs2842139 10 10416946 [T/C] rs11256586 10 10430827 [A/G] rs2488166 10 10436076 [A/G] rs1891399 10 10444276 [A/G] rs7894041 10 10463201 [T/G] NR_120637 LOC101928322 Silent rs10905724 10 10463425 [T/C] NR_120637 LOC101928322 Silent rs2244673 10 10480283 [A/C] NR_120637 LOC101928322 Silent rs2186063 10 10486772 [A/G] NR_120637 LOC101928322 Silent rs2488172 10 10495544 [T/G] NR_120637 LOC101928322 Silent rs2249834 10 10506858 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs10905727 10 10510613 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs1924507 10 10521475 [A/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs4747860 10 10540164 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs2398243 10 10552597 [T/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs12571685 10 10564423 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs1830809 10 10565949 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs2224869 10 10566117 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent exm2249017 10 10570880 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs2398245 10 10570880 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs1324322 10 10572751 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs10752197 10 10581764 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs2031340 10 10586371 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs7078952 10 10597070 [A/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs7085082 10 10602446 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs11597484 10 10606599 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs11594796 10 10607323 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs7096494 10 10607497 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs7896493 10 10609578 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs7918560 10 10610969 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs12569844 10 10612816 [T/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs7084466 10 10615416 [A/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs12251512 10 10619227 [T/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs4131374 10 10624738 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs10905749 10 10626134 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs11256691 10 10628935 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs9329332 10 10642515 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs1327842 10 10650389 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs4749974 10 10657176 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs11597228 10 10660838 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs17148556 10 10676274 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs4747873 10 10686085 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs7919635 10 10690733 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs1359890 10 10700036 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs2399551 10 10702431 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs4749976 10 10704323 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs7895677 10 10725488 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs10905788 10 10729861 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs1327860 10 10732112 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs1998432 10 10743956 [A/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs7923994 10 10756738 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent exm-rs2399553 10 10760902 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs10752199 10 10769007 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs10752200 10 10772031 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs12764483 10 10774824 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs11596743 10 10776143 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs12356893 10 10780895 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs7922173 10 10791450 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs10795820 10 10796771 [A/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs2038662 10 10800193 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs6602452 10 10801161 [A/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs4363499 10 10804089 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs2399555 10 10811867 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs7077336 10 10812086 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs11599142 10 10815196 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs9423835 10 10821168 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs11256834 10 10834765 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NR_027082 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,SFTA1P Silent,Silent,Silent,Silent,Silent,Silent,Silent rs912083 10 10838596 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent rs1475184 10 10846843 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7083737 10 10848955 [T/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs867221 10 10855297 [T/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2271252 10 10855297 [T/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10905835 10 10859858 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4749995 10 10874408 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7085538 10 10874535 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10752209 10 10886244 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11256861 10 10888524 [T/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12221057 10 10893317 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1473737 10 10912885 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7904753 10 10918103 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7087274 10 10926211 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1570438 10 10936611 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs912069 10 10945351 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10905858 10 10945862 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7067649 10 10953351 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6602466 10 10957990 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11256913 10 10961756 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4750006 10 10964126 [T/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs731229 10 10968633 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10905872 10 10982779 [T/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NR_015413,NR_024410,NR_024411 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,LINC00710,LINC00710,LINC00710 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6602471 10 10990421 [A/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NR_015413,NR_024410,NR_024411 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,LINC00710,LINC00710,LINC00710 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs201070 10 10992865 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NR_015413,NR_024410,NR_024411 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,LINC00710,LINC00710,LINC00710 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs62209 10 11000339 [T/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs62209 10 11000339 [T/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2259521 10 11002752 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs201084 10 11011330 [A/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11256941 10 11017020 [T/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs201091 10 11017664 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs201107 10 11038471 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm809130 10 11047400 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L17S,Missense_L17S,Missense_L17S,Missense_L17S,Silent,Missense_L17S,Silent,Missense_L17S rs7901515 10 11057523 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10905884 10 11067117 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1999207 10 11078390 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10905889 10 11082012 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6602475 10 11101626 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1291843 10 11104819 [T/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1291845 10 11105845 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1291849 10 11108377 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11256967 10 11119609 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NR_046108 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2-AS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2773492 10 11122044 [T/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NR_046108 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2-AS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1291799 10 11124499 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NR_046108 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2-AS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10490956 10 11128473 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NR_046108 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2-AS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1291813 10 11130833 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NR_046108 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2-AS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10490954 10 11138048 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NR_046108 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2-AS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7070530 10 11141618 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NR_046108 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2-AS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1291828 10 11142597 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NR_046108 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2-AS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs10905900 10 11143281 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NR_046108 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2-AS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7073060 10 11154321 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1750737 10 11155332 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1750738 10 11156472 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1750734 10 11161978 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7073803 10 11185145 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs592033 10 11198255 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs649882 10 11199917 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7909331 10 11205224 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs688830 10 11210466 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs693950 10 11212852 [A/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs658469 10 11221366 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11257006 10 11223837 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs624964 10 11231831 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4747895 10 11237509 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3243 10 11237928 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12252240 10 11244579 [T/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2399667 10 11251376 [T/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4750029 10 11258834 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10160031 10 11263204 [A/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12098246 10 11277613 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4750033 10 11287062 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2653521 10 11290351 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11817658 10 11296839 [A/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2765986 10 11314769 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2243516 10 11317357 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7099074 10 11328131 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm809162 10 11330456 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 EXON Missense_S275N,Missense_S275N,Missense_S275N,Missense_S275N,Missense_S275N,Missense_S275N,Missense_S275N,Missense_S330N,Missense_S275N,Missense_S311N,Missense_S311N,Missense_S275N,Missense_S275N,Missense_S299N,Missense_S299N,Missense_S299N,Missense_S299N,Missense_S275N,Missense_S299N,Missense_S71N,Missense_S299N,Missense_S188N,Missense_S188N,Missense_S306N,Missense_S306N,Missense_S306N,Missense_S306N,Missense_S306N,Missense_S275N,Missense_S275N,Missense_S283N,Missense_S275N,Missense_S71N,Missense_S275N,Missense_S275N,Missense_S275N rs10905928 10 11342887 [A/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2246449 10 11356160 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2 EXON Synonymous_L314L,Synonymous_L314L,Synonymous_L314L,Synonymous_L314L,Synonymous_L314L,Synonymous_L314L,Synonymous_L314L,Synonymous_L369L,Synonymous_L314L,Synonymous_L350L,Synonymous_L350L,Synonymous_L314L,Synonymous_L314L,Synonymous_L338L,Synonymous_L338L,Synonymous_L338L,Synonymous_L338L,Synonymous_L314L,Synonymous_L338L,Synonymous_L110L,Synonymous_L338L,Synonymous_L227L,Synonymous_L227L,Synonymous_L345L,Synonymous_L345L,Synonymous_L345L,Synonymous_L345L,Synonymous_L345L,Synonymous_L314L,Synonymous_L314L,Synonymous_L322L,Synonymous_L314L,Synonymous_L110L,Synonymous_L314L,Synonymous_L314L,Synonymous_L314L rs10795860 10 11362317 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591,NR_126062 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2-AS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12268544 10 11368747 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591,NR_126062 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2-AS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2378991 10 11369250 [A/G] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591,NR_126062 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2-AS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9329334 10 11369870 [T/C] NM_001326318,NM_001326320,NM_001326321,NM_001326317,NM_001326323,NM_001326319,NM_001326324,NM_001326325,NM_001326328,NM_001326326,NM_001326327,NM_001326329,NM_001326330,NM_001326332,NM_001326335,NM_001326337,NM_001326336,NM_001326334,NM_001326331,NM_001326333,NM_001025077,NM_001326338,NM_001326339,NM_001326340,NM_001326341,NM_001326342,NM_001326343,NM_006561,NM_001326344,NM_001326345,NM_001326347,NM_001326348,NM_001326346,NM_001326349,NM_001025076,NM_001083591,NR_126062 CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2,CELF2-AS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2440081 10 11388290 [T/C] rs6602495 10 11392180 [T/C] rs4114417 10 11395889 [T/G] rs12245515 10 11396152 [A/G] rs12775688 10 11397752 [A/C] rs3847427 10 11402047 [A/G] rs10752219 10 11405290 [A/G] rs11257069 10 11412053 [A/G] rs7090793 10 11421378 [T/C] rs11257074 10 11422431 [A/G] rs2454803 10 11424447 [A/G] rs4750051 10 11431354 [A/G] rs2454797 10 11431693 [A/G] rs10905942 10 11438833 [A/G] rs2440097 10 11444009 [T/C] rs2440100 10 11444870 [T/C] exm2271376 10 11464063 [T/C] rs7095714 10 11465260 [T/C] rs2399705 10 11471599 [T/G] rs2454779 10 11481180 [T/C] rs2499906 10 11483103 [A/G] rs11257101 10 11492868 [T/C] rs7070337 10 11494666 [A/C] variant.11569 10 11504460 [A/G] NM_001080491,NM_014688 USP6NL,USP6NL EXON Nonsense_Q840X,Nonsense_Q823X exm809199 10 11504528 [G/C] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_S817C,Missense_S800C exm809208 10 11504687 [A/G] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_T764M,Missense_T747M exm809210 10 11504715 [T/C] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_E755K,Missense_E738K indel.11571 10 11504900 [I/D] NM_001080491,NM_014688 USP6NL,USP6NL EXON exm809231 10 11505170 [A/G] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_P603L,Missense_P586L exm809234 10 11505177 [A/G] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_P601S,Missense_P584S exm809243 10 11505372 [T/C] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_V536I,Missense_V519I exm809266 10 11505743 [A/G] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_P412L,Missense_P395L exm2274393 10 11527215 [T/C] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_T277A,Missense_T260A exm809282 10 11532832 [A/G] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_T198M,Missense_T181M exm809283 10 11532842 [T/C] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_I195V,Missense_I178V exm809288 10 11535209 [A/G] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_R152W,Missense_R135W exm809290 10 11543119 [T/C] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_E139G,Missense_E122G rs7085769 10 11543661 [A/G] NM_001080491,NM_014688 USP6NL,USP6NL Silent,Silent rs12571504 10 11546376 [A/G] NM_001080491,NM_014688 USP6NL,USP6NL Silent,Silent exm809299 10 11560554 [A/G] NM_001080491,NM_014688 USP6NL,USP6NL EXON Missense_H76Y,Missense_H59Y rs10905968 10 11571368 [T/C] NM_001080491,NM_014688 USP6NL,USP6NL Silent,Silent rs12250042 10 11574424 [T/G] NM_014688 USP6NL Silent rs17150540 10 11580354 [T/C] NM_014688 USP6NL Silent rs11257179 10 11623686 [A/C] NM_014688,NR_125732 USP6NL,USP6NL Silent,Silent rs17136777 10 11635029 [T/C] NM_014688,NR_125732 USP6NL,USP6NL Silent,Silent rs6602510 10 11682900 [T/C] rs11257231 10 11713869 [T/C] rs11257240 10 11719074 [T/G] rs3829155 10 11722775 [T/G] rs1466696 10 11727785 [T/C] rs1466695 10 11729374 [T/C] rs9730979 10 11738432 [A/G] rs12356463 10 11741083 [T/G] rs4750085 10 11757180 [T/C] rs12264977 10 11758562 [T/G] rs11813714 10 11764098 [T/C] rs10795879 10 11767916 [T/C] rs4747933 10 11773389 [T/C] rs2055040 10 11780837 [T/C] exm809316 10 11789355 [A/G] NM_024693 ECHDC3 EXON Missense_V60I exm809317 10 11789365 [A/G] NM_024693 ECHDC3 EXON Missense_N63S exm809318 10 11789382 [A/G] NM_024693 ECHDC3 EXON Missense_A69T rs4750093 10 11789637 [A/G] NM_024693 ECHDC3 Silent exm809331 10 11791591 [A/G] NM_024693 ECHDC3 EXON Synonymous_K130K exm809336 10 11797423 [A/G] NM_024693 ECHDC3 EXON Missense_R136Q exm809340 10 11797451 [T/G] NM_024693 ECHDC3 EXON Missense_M145I exm809341 10 11797467 [A/G] NM_024693 ECHDC3 EXON Missense_A151T exm809345 10 11797500 [A/G] NM_024693 ECHDC3 EXON Missense_D162N exm1671985 10 11797509 [A/G] NM_024693 ECHDC3 EXON Missense_V165M exm809349 10 11797518 [A/G] NM_024693 ECHDC3 EXON Missense_D168N exm809354 10 11797554 [A/G] NM_024693 ECHDC3 EXON Missense_G180R exm809355 10 11797585 [T/G] NM_024693 ECHDC3 EXON Missense_L190W rs3750695 10 11797675 [A/G] NM_024693 ECHDC3 Silent rs10752230 10 11803185 [A/G] NM_024693 ECHDC3 Silent exm809375 10 11805412 [T/C] NM_024693 ECHDC3 EXON Nonsense_Q261X exm2274394 10 11805473 [A/G] NM_024693 ECHDC3 EXON Missense_R281Q exm809384 10 11805487 [A/G] NM_024693 ECHDC3 EXON Missense_G286S exm809385 10 11805494 [T/C] NM_024693 ECHDC3 EXON Missense_T288M rs7101167 10 11815455 [T/C] rs2131265 10 11817835 [T/C] rs10795892 10 11822949 [T/C] rs7098491 10 11824850 [A/C] rs4750112 10 11828686 [A/G] rs17150863 10 11831111 [A/G] rs942531 10 11848189 [A/G] rs12358475 10 11848792 [A/G] rs1998638 10 11873528 [A/G] NM_153256 PROSER2 Silent rs7893993 10 11874190 [A/G] NM_153256 PROSER2 Silent rs942539 10 11879926 [T/C] NM_153256 PROSER2 Silent rs2031383 10 11885961 [T/C] NM_153256 PROSER2 Silent exm2249061 10 11885961 [T/C] NM_153256 PROSER2 Silent rs7079747 10 11893971 [T/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 Silent,Silent exm809389 10 11894092 [T/C] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_R6W,Silent exm2276874 10 11894146 [A/C] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Synonymous_R24R,Silent exm809394 10 11894164 [A/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_G30S,Silent exm809395 10 11894180 [A/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_R35Q,Silent exm809396 10 11894195 [A/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_R40H,Silent rs12357926 10 11897065 [T/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 Silent,Silent newrs148477384 10 11908528 [A/C] NM_153256,NR_038222 PROSER2,PROSER2-AS1 Silent,Silent exm809404 10 11908638 [A/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_D83N,Silent exm809407 10 11908666 [T/C] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_P92L,Silent exm809414 10 11908740 [A/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_A117T,Silent exm809418 10 11908752 [A/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_E121K,Silent rs12261792 10 11909896 [T/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 Silent,Silent exm809426 10 11911537 [G/C] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_P147R,Silent exm809430 10 11911576 [A/C] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_A160E,Silent exm1672331 10 11911696 [A/T] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_K200M,Silent exm809436 10 11911704 [A/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_E203K,Silent exm809439 10 11911741 [T/C] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_S215F,Silent exm809441 10 11911744 [A/C] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_P216Q,Silent exm1672332 10 11912181 [A/G] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Missense_A362T,Silent rs12253600 10 11912431 [T/C] NM_153256,NR_038222 PROSER2,PROSER2-AS1 EXON Silent,Silent rs7902251 10 11915351 [A/G] NR_038222 PROSER2-AS1 Silent rs717800 10 11919872 [T/C] NR_038222 PROSER2-AS1 Silent rs7074402 10 11922731 [T/C] NR_038222 PROSER2-AS1 Silent rs7093229 10 11926406 [T/G] NR_038222 PROSER2-AS1 Silent rs7900122 10 11932234 [A/C] NR_038222 PROSER2-AS1 Silent rs11257391 10 11934634 [A/G] NR_038222 PROSER2-AS1 Silent rs12356904 10 11936420 [T/C] NR_038222 PROSER2-AS1 EXON Silent rs10795908 10 11943885 [A/G] rs10795911 10 11951896 [A/G] rs7897567 10 11975662 [A/G] NM_015542,NM_080599 UPF2,UPF2 Silent,Silent rs3740025 10 11979002 [A/G] NM_015542,NM_080599 UPF2,UPF2 Silent,Silent exm809522 10 11998413 [A/G] NM_015542,NM_080599 UPF2,UPF2 EXON Missense_V827A,Missense_V827A exm809533 10 12006124 [T/C] NM_015542,NM_080599 UPF2,UPF2 EXON Missense_M690V,Missense_M690V rs6602555 10 12028228 [T/C] NM_015542,NM_080599 UPF2,UPF2 Silent,Silent rs4750147 10 12033741 [T/C] NM_015542,NM_080599 UPF2,UPF2 Silent,Silent exm809545 10 12043768 [G/C] NM_015542,NM_080599 UPF2,UPF2 EXON Missense_E521Q,Missense_E521Q exm809549 10 12046546 [T/C] NM_015542,NM_080599 UPF2,UPF2 EXON Missense_N496S,Missense_N496S rs10795917 10 12051816 [A/G] NM_015542,NM_080599 UPF2,UPF2 Silent,Silent rs7072007 10 12062959 [T/C] NM_015542,NM_080599 UPF2,UPF2 Silent,Silent rs10795919 10 12064869 [A/G] NM_015542,NM_080599 UPF2,UPF2 Silent,Silent exm809571 10 12071235 [T/A] NM_015542,NM_080599 UPF2,UPF2 EXON Missense_D218E,Missense_D218E rs10906052 10 12075960 [T/C] NM_015542,NM_080599 UPF2,UPF2 Silent,Silent exm809583 10 12077076 [T/G] NM_015542,NM_080599 UPF2,UPF2 EXON Missense_E116A,Missense_E116A exm809588 10 12077155 [T/C] NM_015542,NM_080599 UPF2,UPF2 EXON Missense_E90K,Missense_E90K exm809593 10 12077347 [T/C] NM_015542,NM_080599 UPF2,UPF2 EXON Missense_S26G,Missense_S26G exm809595 10 12077409 [T/C] NM_015542,NM_080599 UPF2,UPF2 EXON Missense_R5H,Missense_R5H rs10906055 10 12094949 [T/C] rs11257506 10 12099023 [A/G] rs7908725 10 12100735 [T/C] rs7093150 10 12108009 [T/C] rs10752254 10 12122355 [T/C] NM_018706 DHTKD1 Silent exm809607 10 12123525 [G/C] NM_018706 DHTKD1 EXON Missense_A70G exm809619 10 12126671 [A/C] NM_018706 DHTKD1 EXON Missense_K148T exm809621 10 12126716 [A/G] NM_018706 DHTKD1 EXON Missense_R163Q exm809630 10 12129639 [T/G] NM_018706 DHTKD1 EXON Missense_A210S variant.11587 10 12129714 [T/C] NM_018706 DHTKD1 EXON Nonsense_Q235X exm809636 10 12130988 [T/A] NM_018706 DHTKD1 EXON Missense_M241L exm809640 10 12131081 [T/G] NM_018706 DHTKD1 EXON Missense_Y272D exm809641 10 12131114 [A/G] NM_018706 DHTKD1 EXON Missense_M283V exm809647 10 12131240 [A/G] NM_018706 DHTKD1 EXON Missense_V325I exm809650 10 12133572 [A/G] NM_018706 DHTKD1 EXON Missense_N350D exm809651 10 12133603 [T/C] NM_018706 DHTKD1 EXON Missense_V360A variant.11588 10 12133688 [A/G] NM_018706 DHTKD1 Silent var_10_12136140 10 12136140 [T/C] NM_018706 DHTKD1 EXON Nonsense_R410X exm809660 10 12136158 [T/C] NM_018706 DHTKD1 EXON Nonsense_Q416X exm809662 10 12136174 [A/G] NM_018706 DHTKD1 EXON Missense_K421R exm809664 10 12136212 [A/G] NM_018706 DHTKD1 EXON Missense_G434S exm809675 10 12139874 [T/C] NM_018706 DHTKD1 EXON Missense_A517V rs2062986 10 12140444 [A/G] NM_018706 DHTKD1 Silent exm809682 10 12143053 [T/G] NM_018706 DHTKD1 EXON Missense_R590L exm809684 10 12143105 [C/G] NM_018706 DHTKD1 EXON Missense_I607M exm809685 10 12143116 [A/G] NM_018706 DHTKD1 EXON Missense_Q611R rs9424148 10 12146858 [A/C] NM_018706 DHTKD1 Silent exm809694 10 12148308 [A/T] NM_018706 DHTKD1 EXON Missense_S654C exm809705 10 12149981 [A/C] NM_018706 DHTKD1 EXON Missense_D707E exm809712 10 12154929 [A/G] NM_018706 DHTKD1 EXON Missense_G729R exm809719 10 12155062 [T/C] NM_018706 DHTKD1 EXON Missense_P773L newrs145738102 10 12155063 [A/G] NM_018706 DHTKD1 EXON Synonymous_P773P exm809720 10 12155063 [A/G] NM_018706 DHTKD1 EXON Synonymous_P773P rs2399771 10 12159647 [A/G] NM_018706 DHTKD1 Silent indel.11592 10 12159748 [D/I] NM_018706 DHTKD1 EXON exm809741 10 12162193 [T/G] NM_018706 DHTKD1 EXON Missense_S862I exm809745 10 12162789 [A/C] NM_018706 DHTKD1 EXON Missense_R888S exm809752 10 12162832 [T/C] NM_018706 DHTKD1 EXON Missense_I902T exm809753 10 12162849 [A/C] NM_018706 DHTKD1 EXON Missense_H908N rs6602563 10 12170174 [T/C] rs10906083 10 12179270 [A/G] NM_018144,NM_001142628,NM_001142627,NR_024577,NR_024576 SEC61A2,SEC61A2,SEC61A2,SEC61A2,SEC61A2 Silent,Silent,Silent,Silent,Silent rs10906086 10 12189712 [T/G] NM_018144,NM_001142628,NM_001142627,NR_024577,NR_024576 SEC61A2,SEC61A2,SEC61A2,SEC61A2,SEC61A2 Silent,Silent,Silent,Silent,Silent variant.11594 10 12191725 [T/C] NM_018144,NM_001142628,NM_001142627,NR_024577,NR_024576 SEC61A2,SEC61A2,SEC61A2,SEC61A2,SEC61A2 EXON Synonymous_L118L,Synonymous_L96L,Synonymous_L118L,Silent,Silent rs10466280 10 12191933 [T/C] NM_018144,NM_001142628,NM_001142627,NR_024577,NR_024576 SEC61A2,SEC61A2,SEC61A2,SEC61A2,SEC61A2 EXON Synonymous_A145A,Synonymous_A123A,Synonymous_A145A,Silent,Silent var_10_12191965 10 12191965 [T/G] NM_018144,NM_001142628,NM_001142627,NR_024577,NR_024576 SEC61A2,SEC61A2,SEC61A2,SEC61A2,SEC61A2 Silent,Silent,Silent,Silent,Silent rs2245590 10 12198884 [T/C] NM_018144,NM_001142628,NM_001142627,NR_024577,NR_024576 SEC61A2,SEC61A2,SEC61A2,SEC61A2,SEC61A2 Silent,Silent,Silent,Silent,Silent exm2249072 10 12199039 [T/C] NM_018144,NM_001142628,NM_001142627,NR_024577,NR_024576 SEC61A2,SEC61A2,SEC61A2,SEC61A2,SEC61A2 EXON Synonymous_F250F,Synonymous_F228F,Synonymous_F250F,Silent,Silent indel.11599 10 12203121 [I/D] NM_018144,NM_001142628,NM_001142627,NR_024577,NR_024576 SEC61A2,SEC61A2,SEC61A2,SEC61A2,SEC61A2 rs11257576 10 12211970 [T/G] NM_001321647,NM_014142,NM_001321648 NUDT5,NUDT5,NUDT5 Silent,Silent,Silent indel.11600 10 12212868 [I/D] NM_001321647,NM_014142,NM_001321648 NUDT5,NUDT5,NUDT5 newrs142131555 10 12214766 [A/G] NM_001321647,NM_014142,NM_001321648 NUDT5,NUDT5,NUDT5 EXON Missense_P162L,Missense_P162L,Missense_P76L exm809834 10 12214844 [A/G] NM_001321647,NM_014142,NM_001321648 NUDT5,NUDT5,NUDT5 EXON Missense_L136S,Missense_L136S,Missense_L50S exm2276792 10 12214864 [A/C] NM_001321647,NM_014142,NM_001321648 NUDT5,NUDT5,NUDT5 EXON Synonymous_A129A,Synonymous_A129A,Synonymous_A43A exm2271254 10 12215180 [T/C] NM_001321647,NM_014142,NM_001321648 NUDT5,NUDT5,NUDT5 Silent,Silent,Silent exm809838 10 12215734 [A/G] NM_001321647,NM_014142,NM_001321648 NUDT5,NUDT5,NUDT5 EXON Missense_I123T,Missense_I123T,Missense_I37T exm809840 10 12219820 [G/C] NM_001321647,NM_014142,NM_001321648 NUDT5,NUDT5,NUDT5 EXON Missense_M87I,Missense_M87I,Missense_M1I rs7072888 10 12235711 [T/C] NM_001321647,NM_014142,NM_001321648 NUDT5,NUDT5,NUDT5 Silent,Silent,Silent exm809858 10 12238319 [A/G] NM_006023 CDC123 Silent rs10906097 10 12243821 [T/G] NM_006023 CDC123 Silent rs938991 10 12245601 [A/G] NM_006023 CDC123 Silent rs4747968 10 12249797 [T/C] NM_006023 CDC123 Silent rs12221133 10 12253597 [A/G] NM_006023 CDC123 Silent 1KG_10_12259383 10 12259383 [I/D] NM_006023 CDC123 EXON rs11257608 10 12269343 [T/C] NM_006023 CDC123 Silent newrs139964730 10 12277092 [T/C] NM_006023 CDC123 EXON Nonsense_R179X exm-rs7068966 10 12277992 [T/C] NM_006023 CDC123 Silent rs7075724 10 12282461 [A/G] NM_006023 CDC123 Silent rs11818932 10 12288366 [T/G] NM_006023 CDC123 Silent rs4469792 10 12288780 [A/G] NM_006023 CDC123 Silent exm1673061 10 12291584 [T/C] NM_006023 CDC123 EXON Missense_S284F variant.11607 10 12291722 [A/G] NM_006023 CDC123 Silent rs11257655 10 12307894 [T/C] rs7895410 10 12310737 [T/C] exm-rs10906115 10 12314997 [A/G] rs10906115 10 12314997 [A/G] rs1962249 10 12347641 [A/G] rs7069309 10 12351089 [T/C] rs4750201 10 12353934 [T/C] rs7896794 10 12376977 [A/C] rs2997063 10 12389180 [T/C] rs7909593 10 12402466 [A/C] NM_020397,NM_153498 CAMK1D,CAMK1D Silent,Silent rs10906139 10 12412336 [T/C] NM_020397,NM_153498 CAMK1D,CAMK1D Silent,Silent rs12261350 10 12419475 [A/G] NM_020397,NM_153498 CAMK1D,CAMK1D Silent,Silent rs11257754 10 12423107 [A/G] NM_020397,NM_153498 CAMK1D,CAMK1D Silent,Silent rs11257765 10 12434742 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs4750212 10 12436252 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs11592475 10 12440209 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs7100726 10 12450495 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2724786 10 12451399 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2399860 10 12458032 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2801479 10 12461773 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs11592149 10 12467228 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs1125791 10 12475837 [T/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2801493 10 12480633 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2986651 10 12483898 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs10906150 10 12484556 [A/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs6602588 10 12487996 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2399849 10 12499860 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs1571212 10 12508956 [T/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2768411 10 12511729 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs1543595 10 12515823 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs12784955 10 12520663 [T/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs1536529 10 12521907 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs11257817 10 12524077 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2768431 10 12527867 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs10906156 10 12529195 [T/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2768436 10 12534093 [A/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2768438 10 12535056 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs7078980 10 12538491 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs7097560 10 12538602 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2768444 10 12542529 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs11257835 10 12544852 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2768447 10 12549961 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs11257842 10 12551056 [T/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs7078672 10 12558701 [T/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs11257857 10 12566323 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2815646 10 12568166 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs10906162 10 12572496 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs7079055 10 12575817 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs1111060 10 12576812 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2815638 10 12582784 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs7897059 10 12591712 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2768340 10 12594436 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent exm809923 10 12595329 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D EXON Missense_I66M,Missense_I66M,Silent variant.11608 10 12595355 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D EXON Missense_K75R,Missense_K75R,Silent rs1571207 10 12597112 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs10906166 10 12597458 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs10906169 10 12598121 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2768343 10 12598255 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2815624 10 12599694 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs11257888 10 12601504 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2648710 10 12603912 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs1409961 10 12608676 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs7081248 10 12614891 [A/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2895527 10 12626977 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs9787594 10 12634503 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs11257913 10 12638147 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs12414386 10 12644580 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs4301695 10 12654884 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs879753 10 12655800 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs12355005 10 12662552 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs4750244 10 12673160 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs17152029 10 12673810 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent exm2266962 10 12675061 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs11257927 10 12678127 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs2399866 10 12679491 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs17580343 10 12681113 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent exm2271377 10 12689914 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs7071404 10 12695387 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs10508445 10 12702818 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs3995695 10 12712070 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs12251362 10 12714269 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs10906202 10 12718736 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs11257948 10 12747672 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs723210 10 12762476 [A/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs7077423 10 12771680 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs7894890 10 12787065 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs4335437 10 12796923 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs4072657 10 12797007 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs4132050 10 12797758 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent exm809928 10 12802947 [G/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D EXON Synonymous_L100L,Synonymous_L100L,Synonymous_L3L exm809931 10 12803023 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D EXON Missense_R126C,Missense_R126C,Missense_R29C rs3824654 10 12826886 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs3802559 10 12827660 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs10906223 10 12828290 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs11257991 10 12833612 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs928336 10 12834926 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs1556408 10 12840842 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs10906230 10 12851181 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs7080879 10 12857635 [A/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs3818675 10 12858045 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent exm809946 10 12858263 [C/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D EXON Missense_R257G,Missense_R257G,Missense_R160G rs2493750 10 12860373 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent rs1644426 10 12863366 [A/G] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D Silent,Silent,Silent exm809957 10 12867617 [T/C] NM_020397,NM_153498,NM_001351032 CAMK1D,CAMK1D,CAMK1D EXON Missense_H323Y,Missense_H323Y,Missense_H226Y exm809963 10 12870771 [A/T] NM_153498 CAMK1D EXON Missense_L348Q exm809964 10 12870807 [T/C] NM_153498 CAMK1D EXON Missense_S360L rs1757063 10 12873352 [A/G] NM_153498 CAMK1D EXON Silent rs1757065 10 12874421 [A/G] NM_153498 CAMK1D EXON Silent rs2431636 10 12875285 [A/G] NM_153498 CAMK1D EXON Silent rs15980 10 12877007 [A/G] NM_153498 CAMK1D EXON Silent rs1627707 10 12881855 [A/G] rs2482069 10 12889696 [T/C] rs11258029 10 12893229 [A/G] rs2050292 10 12897013 [T/C] rs11258032 10 12903967 [A/G] rs10906242 10 12906431 [A/G] rs4750277 10 12914521 [A/C] rs11258041 10 12918662 [A/C] exm-rs7909670 10 12918764 [T/C] rs1929394 10 12923638 [T/G] rs1888665 10 12933926 [A/C] rs1888667 10 12934038 [A/G] rs3232 10 12938754 [T/C] NM_031455,NM_001282658 CCDC3,CCDC3 EXON Silent,Silent exm809985 10 12940631 [T/C] NM_031455,NM_001282658 CCDC3,CCDC3 EXON Missense_V200I,Missense_V75I exm809990 10 12940666 [T/G] NM_031455,NM_001282658 CCDC3,CCDC3 EXON Nonsense_S188X,Nonsense_S63X rs11258055 10 12945749 [A/G] NM_031455,NM_001282658 CCDC3,CCDC3 Silent,Silent rs7919134 10 12948835 [T/C] NM_031455,NM_001282658 CCDC3,CCDC3 Silent,Silent rs12266955 10 12949079 [T/G] NM_031455,NM_001282658 CCDC3,CCDC3 Silent,Silent rs7908635 10 12950051 [A/G] NM_031455,NM_001282658 CCDC3,CCDC3 Silent,Silent rs11813956 10 12953137 [A/G] NM_031455,NM_001282658 CCDC3,CCDC3 Silent,Silent rs12767692 10 12975556 [T/C] NM_031455,NM_001282658 CCDC3,CCDC3 Silent,Silent rs10906258 10 12976723 [T/G] NM_031455,NM_001282658 CCDC3,CCDC3 Silent,Silent rs12254466 10 12979679 [T/C] NM_031455,NM_001282658 CCDC3,CCDC3 Silent,Silent rs1475610 10 12979699 [A/G] NM_031455,NM_001282658 CCDC3,CCDC3 Silent,Silent rs281848 10 12985117 [T/C] NM_031455,NM_001282658 CCDC3,CCDC3 Silent,Silent rs11258082 10 12999115 [A/G] NM_031455,NM_001282658 CCDC3,CCDC3 Silent,Silent rs10508452 10 13005288 [T/G] NM_031455,NM_001282658 CCDC3,CCDC3 Silent,Silent rs2580912 10 13007184 [A/C] NM_031455,NM_001282658 CCDC3,CCDC3 Silent,Silent rs10906273 10 13008959 [A/C] NM_031455,NM_001282658 CCDC3,CCDC3 Silent,Silent rs1866627 10 13017220 [T/C] NM_031455,NM_001282658 CCDC3,CCDC3 Silent,Silent rs557264 10 13022684 [T/C] NM_031455,NM_001282658 CCDC3,CCDC3 Silent,Silent rs12763563 10 13031971 [A/G] NM_031455,NM_001282658 CCDC3,CCDC3 Silent,Silent exm809994 10 13040400 [A/G] NM_031455,NM_001282658 CCDC3,CCDC3 EXON Missense_C163R,Missense_C38R exm809999 10 13040481 [T/C] NM_031455,NM_001282658 CCDC3,CCDC3 EXON Missense_G136R,Missense_G11R exm810003 10 13043224 [T/C] NM_031455,NM_001282658 CCDC3,CCDC3 EXON Missense_Q116R,Silent exm810005 10 13043248 [A/G] NM_031455,NM_001282658 CCDC3,CCDC3 EXON Missense_S108L,Silent rs564022 10 13055619 [A/G] NM_001282658 CCDC3 Silent rs11258127 10 13057323 [T/C] NM_001282658 CCDC3 Silent rs513155 10 13057482 [T/C] NM_001282658 CCDC3 Silent rs579882 10 13060410 [T/C] NM_001282658 CCDC3 Silent rs565850 10 13064223 [T/G] NM_001282658 CCDC3 Silent rs3911950 10 13070982 [T/C] NM_001282658 CCDC3 Silent rs7072705 10 13077713 [A/C] NM_001282658 CCDC3 Silent rs4409728 10 13079319 [T/C] NM_001282658 CCDC3 Silent rs10796006 10 13080922 [T/C] NM_001282658 CCDC3 Silent rs7082198 10 13083201 [T/G] NM_001282658 CCDC3 Silent rs553638 10 13093111 [A/G] NM_001282658 CCDC3 Silent rs1347979 10 13097737 [T/C] NM_001282658 CCDC3 Silent rs2065678 10 13099421 [T/C] NM_001282658 CCDC3 Silent rs609445 10 13100999 [A/G] NM_001282658 CCDC3 Silent rs607742 10 13101370 [T/C] NM_001282658 CCDC3 Silent exm-rs525455 10 13103285 [A/G] NM_001282658 CCDC3 Silent rs2782292 10 13104515 [A/G] NM_001282658 CCDC3 Silent rs10796010 10 13108440 [A/C] NM_001282658 CCDC3 Silent rs10796011 10 13114340 [T/C] NM_001282658 CCDC3 Silent rs4750306 10 13115887 [T/C] NM_001282658 CCDC3 EXON Silent rs7079869 10 13121352 [A/G] NM_001282658 CCDC3 Silent rs660592 10 13148267 [A/G] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN Silent,Silent,Silent,Silent rs2234968 10 13151224 [A/G] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN EXON Synonymous_T34T,Synonymous_T34T,Synonymous_T34T,Synonymous_T34T exm810019 10 13152382 [T/A] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN EXON Missense_E92V,Missense_E92V,Missense_E92V,Missense_E92V exm810020 10 13152400 [A/T] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN EXON Missense_M98K,Missense_M98K,Missense_M98K,Missense_M98K exm810024 10 13154486 [A/G] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN EXON Missense_E135K,Missense_E135K,Missense_E135K,Missense_E135K exm-rs1561570 10 13155726 [T/C] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN Silent,Silent,Silent,Silent rs2244380 10 13158262 [T/C] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN Silent,Silent,Silent,Silent rs7095146 10 13161409 [A/C] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN Silent,Silent,Silent,Silent exm810061 10 13166021 [A/C] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN EXON Missense_N303K,Missense_N303K,Missense_N303K,Missense_N303K exm810063 10 13166053 [T/A] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN EXON Missense_Q314L,Missense_Q314L,Missense_Q314L,Missense_Q314L exm810065 10 13166076 [A/G] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN EXON Missense_K322E,Missense_K322E,Missense_K322E,Missense_K322E newrs144678818 10 13167944 [A/G] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN Silent,Silent,Silent,Silent rs17512962 10 13169066 [A/G] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN Silent,Silent,Silent,Silent rs825411 10 13169374 [A/G] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN Silent,Silent,Silent,Silent rs10796028 10 13169512 [T/G] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN Silent,Silent,Silent,Silent variant.11616 10 13169806 [A/G] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN EXON Missense_K435R,Missense_K435R,Missense_K435R,Missense_K435R exm810076 10 13169898 [T/G] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN EXON Missense_A466S,Missense_A466S,Missense_A466S,Missense_A466S variant.11618 10 13174122 [A/G] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN EXON Missense_H486R,Missense_H486R,Missense_H486R,Missense_H486R exm1674778 10 13175528 [A/G] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN EXON Missense_R520H,Missense_R520H,Missense_R520H,Missense_R520H exm810088 10 13178766 [A/G] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN EXON Missense_R545Q,Missense_R545Q,Missense_R545Q,Missense_R545Q newrs75654767 10 13178766 [A/G] NM_001008213,NM_001008211,NM_021980,NM_001008212 OPTN,OPTN,OPTN,OPTN EXON Missense_R545Q,Missense_R545Q,Missense_R545Q,Missense_R545Q rs2184401 10 13186875 [T/C] rs10906313 10 13193189 [A/G] rs7899305 10 13199611 [T/C] rs2147279 10 13212884 [T/C] NM_182751,NM_018518 MCM10,MCM10 Silent,Silent exm810099 10 13213015 [A/G] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_R34Q,Missense_R34Q exm810105 10 13213119 [A/G] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_D69N,Missense_D69N exm810111 10 13214427 [A/G] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_K134R,Missense_K134R exm810116 10 13214636 [T/C] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_P156S,Missense_P155S exm810123 10 13214753 [C/G] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_A195P,Missense_A194P exm810128 10 13217560 [C/G] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_Q216E,Missense_Q215E exm810129 10 13217572 [T/C] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_R220W,Missense_R219W exm1674826 10 13217606 [T/C] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_I231T,Missense_I230T exm810134 10 13217636 [T/C] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_T241M,Missense_T240M exm810138 10 13222485 [A/G] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_G271S,Missense_G270S variant.11620 10 13222488 [T/C] NM_182751,NM_018518 MCM10,MCM10 EXON Nonsense_R272X,Nonsense_R271X exm810147 10 13224970 [A/G] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_R324H,Missense_R323H exm810148 10 13225021 [T/C] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_A341V,Missense_A340V exm810151 10 13225050 [A/G] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_V351I,Missense_V350I rs11258235 10 13225119 [A/G] NM_182751,NM_018518 MCM10,MCM10 Silent,Silent rs942412 10 13226829 [T/G] NM_182751,NM_018518 MCM10,MCM10 Silent,Silent exm810157 10 13228184 [A/T] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_H374Q,Missense_H373Q exm810158 10 13228228 [C/G] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_T389S,Missense_T388S exm810163 10 13230882 [A/G] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_R407H,Missense_R406H exm810165 10 13230915 [T/C] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_A418V,Missense_A417V exm810170 10 13230995 [T/C] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_R445C,Missense_R444C exm810187 10 13234356 [T/A] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_T541S,Missense_T540S exm810188 10 13234360 [T/C] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_A542V,Missense_A541V exm810192 10 13234498 [A/G] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_A560T,Missense_A559T exm810203 10 13237181 [A/G] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_R630Q,Missense_R629Q variant.11627 10 13239642 [T/G] NM_182751,NM_018518 MCM10,MCM10 EXON Nonsense_L666X,Nonsense_L665X rs2274110 10 13239651 [A/G] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_K669R,Missense_K668R exm810209 10 13239651 [A/G] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_K669R,Missense_K668R indel.11628 10 13240721 [D/I] NM_182751,NM_018518 MCM10,MCM10 EXON variant.11629 10 13240730 [T/C] NM_182751,NM_018518 MCM10,MCM10 EXON Nonsense_Q722X,Nonsense_Q721X exm810214 10 13240791 [A/C] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_T742K,Missense_T741K rs4520495 10 13242413 [A/G] NM_182751,NM_018518 MCM10,MCM10 Silent,Silent rs10906320 10 13242785 [T/C] NM_182751,NM_018518 MCM10,MCM10 Silent,Silent rs11258249 10 13243688 [T/C] NM_182751,NM_018518 MCM10,MCM10 Silent,Silent exm810229 10 13246349 [T/C] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_P829L,Missense_P828L rs3781081 10 13248410 [T/G] NM_182751,NM_018518 MCM10,MCM10 Silent,Silent exm1674853 10 13251117 [A/G] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_R843Q,Missense_R842Q exm810240 10 13251237 [A/G] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_G852D,Missense_G851D exm810244 10 13251300 [A/G] NM_182751,NM_018518 MCM10,MCM10 EXON Missense_S873N,Missense_S872N rs11258253 10 13255276 [T/G] rs11814554 10 13255513 [A/G] rs17152941 10 13258459 [T/C] rs1408363 10 13262143 [T/C] exm810247 10 13264107 [G/C] NM_001303119,NM_145314,NM_001303118 UCMA,UCMA,UCMA EXON Missense_T84S,Missense_T138S,Missense_T106S exm810252 10 13264162 [A/G] NM_001303119,NM_145314,NM_001303118 UCMA,UCMA,UCMA EXON Missense_R66C,Missense_R120C,Missense_R88C exm810253 10 13264170 [T/C] NM_001303119,NM_145314,NM_001303118 UCMA,UCMA,UCMA EXON Missense_E63G,Missense_E117G,Missense_E85G rs942413 10 13266987 [T/C] NM_001303119,NM_145314,NM_001303118 UCMA,UCMA,UCMA Silent,Silent,Silent rs11258275 10 13268140 [T/C] NM_001303119,NM_145314,NM_001303118 UCMA,UCMA,UCMA Silent,Silent,Silent exm810256 10 13271628 [A/G] NM_001303119,NM_145314,NM_001303118 UCMA,UCMA,UCMA EXON Missense_V47A,Missense_V101A,Missense_V69A exm810263 10 13275546 [T/A] NM_001303119,NM_145314,NM_001303118 UCMA,UCMA,UCMA EXON Silent,Missense_E71V,Silent exm810267 10 13275574 [T/C] NM_001303119,NM_145314,NM_001303118 UCMA,UCMA,UCMA EXON Silent,Missense_G62S,Silent variant.11637 10 13275625 [A/G] NM_001303119,NM_145314,NM_001303118 UCMA,UCMA,UCMA EXON Silent,Nonsense_Q45X,Silent exm810274 10 13275764 [A/G] NM_001303119,NM_145314,NM_001303118 UCMA,UCMA,UCMA EXON Silent,Missense_M32T,Missense_M32T rs2399955 10 13277571 [T/C] rs7094862 10 13279884 [T/G] rs2181841 10 13281056 [T/G] rs2476980 10 13284032 [A/C] rs10906331 10 13284827 [T/C] rs17152995 10 13284888 [T/C] rs528320 10 13286331 [T/C] rs551389 10 13286601 [T/G] rs7090352 10 13303113 [A/G] rs10796051 10 13310071 [T/C] exm810288 10 13320327 [G/C] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH EXON Missense_V231L,Missense_V331L,Missense_V233L,Missense_V243L,Missense_V231L,Missense_V333L exm810289 10 13320332 [T/C] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH EXON Missense_R229Q,Missense_R329Q,Missense_R231Q,Missense_R241Q,Missense_R229Q,Missense_R331Q rs4750340 10 13320848 [A/G] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH Silent,Silent,Silent,Silent,Silent,Silent rs3802577 10 13321858 [T/C] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH Silent,Silent,Silent,Silent,Silent,Silent exm810292 10 13322987 [T/C] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH EXON Missense_V218M,Missense_V318M,Missense_V220M,Missense_V230M,Missense_V218M,Missense_V320M indel.11639 10 13323027 [I/D] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH EXON newrs104894178 10 13325695 [A/G] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH EXON Missense_R175W,Missense_R275W,Missense_R177W,Missense_R187W,Missense_R175W,Missense_R277W exm810303 10 13325758 [T/C] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH EXON Missense_D154N,Missense_D254N,Missense_D156N,Missense_D166N,Missense_D154N,Missense_D256N exm810305 10 13325784 [T/C] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH EXON Missense_R145Q,Missense_R245Q,Missense_R147Q,Missense_R157Q,Missense_R145Q,Missense_R247Q exm810309 10 13325839 [A/C] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH EXON Missense_G127W,Missense_G227W,Missense_G129W,Missense_G139W,Missense_G127W,Missense_G229W variant.11644 10 13325840 [A/C] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH Silent,Silent,Silent,Silent,Silent,Silent rs615788 10 13326616 [A/G] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH Silent,Silent,Silent,Silent,Silent,Silent exm810312 10 13330395 [T/C] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH EXON Missense_G115S,Missense_G215S,Missense_G117S,Silent,Missense_G115S,Missense_G217S rs473407 10 13330402 [T/C] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH EXON Synonymous_T112T,Synonymous_T212T,Synonymous_T114T,Silent,Synonymous_T112T,Synonymous_T214T exm810316 10 13330449 [T/C] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH EXON Missense_E97K,Missense_E197K,Missense_E99K,Silent,Missense_E97K,Missense_E199K exm810317 10 13330457 [A/G] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH EXON Missense_T94M,Missense_T194M,Missense_T96M,Silent,Missense_T94M,Missense_T196M exm810319 10 13330470 [T/C] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH EXON Missense_V90I,Missense_V190I,Missense_V92I,Silent,Missense_V90I,Missense_V192I exm810327 10 13330543 [T/C] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH Silent,Silent,Silent,Silent,Silent,Silent rs9732147 10 13332386 [A/G] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH Silent,Silent,Silent,Silent,Silent,Silent rs1414395 10 13334136 [T/G] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH Silent,Silent,Silent,Silent,Silent,Silent exm810339 10 13336486 [A/G] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH EXON Missense_T19M,Missense_T119M,Missense_T19M,Missense_T119M,Missense_T19M,Missense_T119M exm810347 10 13337608 [T/C] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH Silent,Silent,Silent,Silent,Silent,Silent rs505081 10 13338202 [A/G] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH Silent,Silent,Silent,Silent,Silent,Silent exm810351 10 13340236 [A/G] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH EXON Silent,Missense_P29S,Silent,Missense_P29S,Silent,Missense_P29S rs12570229 10 13341185 [T/C] NM_001037537,NM_006214,NM_001323084,NM_001323083,NM_001323080,NM_001323082 PHYH,PHYH,PHYH,PHYH,PHYH,PHYH Silent,Silent,Silent,Silent,Silent,Silent rs608353 10 13341809 [T/G] NM_006214,NM_001323083,NM_001323082 PHYH,PHYH,PHYH Silent,Silent,Silent rs4615920 10 13342654 [A/G] rs11258324 10 13359607 [T/C] NM_012247,NM_001195604,NM_001195602 SEPHS1,SEPHS1,SEPHS1 EXON Silent,Silent,Silent rs10752296 10 13369506 [A/G] NM_012247,NM_001195604,NM_001195602 SEPHS1,SEPHS1,SEPHS1 Silent,Silent,Silent exm810390 10 13375926 [T/C] NM_012247,NM_001195604,NM_001195602 SEPHS1,SEPHS1,SEPHS1 EXON Missense_A151T,Missense_A151T,Missense_A84T exm2216890 10 13375944 [T/C] NM_012247,NM_001195604,NM_001195602 SEPHS1,SEPHS1,SEPHS1 EXON Missense_I145V,Missense_I145V,Missense_I78V rs1005089 10 13387295 [A/G] NM_012247,NM_001195604,NM_001195602 SEPHS1,SEPHS1,SEPHS1 Silent,Silent,Silent rs17602403 10 13398428 [A/G] rs10906357 10 13399789 [T/C] rs12217742 10 13414068 [A/G] rs1556992 10 13415971 [A/G] rs10906364 10 13418971 [A/G] rs12257870 10 13430150 [A/G] rs12768338 10 13443995 [T/C] rs17153219 10 13458676 [T/G] rs6602658 10 13473401 [T/C] rs4750356 10 13480789 [A/G] NM_152751 BEND7 EXON Silent exm2216905 10 13481284 [A/C] NM_152751 BEND7 EXON Missense_F432C indel.11650 10 13481329 [I/D] NM_152751 BEND7 EXON rs11258392 10 13494906 [T/C] NM_152751,NM_001100912 BEND7,BEND7 Silent,Silent exm810448 10 13522940 [T/C] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_N289S,Missense_N302S rs4750369 10 13523763 [A/G] NM_152751,NM_001100912 BEND7,BEND7 Silent,Silent rs4748040 10 13526000 [T/C] NM_152751,NM_001100912 BEND7,BEND7 Silent,Silent rs2399971 10 13529362 [A/G] NM_152751,NM_001100912 BEND7,BEND7 Silent,Silent rs7919627 10 13531381 [A/G] NM_152751,NM_001100912 BEND7,BEND7 Silent,Silent exm810455 10 13534636 [A/G] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_I219T,Missense_I232T exm810457 10 13534652 [T/C] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_V214I,Missense_V227I exm810458 10 13534655 [A/G] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_R213C,Missense_R226C exm810462 10 13534727 [C/G] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_E189Q,Missense_E202Q exm810463 10 13534766 [A/G] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_P176S,Missense_P189S rs2251555 10 13534851 [A/G] NM_152751,NM_001100912 BEND7,BEND7 EXON Synonymous_P147P,Synonymous_P160P rs7917804 10 13540537 [T/C] NM_152751,NM_001100912 BEND7,BEND7 Silent,Silent exm810476 10 13541789 [A/G] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_T94M,Missense_T94M exm810480 10 13541886 [A/G] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_R62C,Missense_R62C exm2249127 10 13541911 [G/C] NM_152751,NM_001100912 BEND7,BEND7 EXON Synonymous_A53A,Synonymous_A53A exm810486 10 13541912 [T/G] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_A53D,Missense_A53D exm1675955 10 13542069 [A/T] NM_152751,NM_001100912 BEND7,BEND7 EXON Missense_M1L,Missense_M1L rs7074884 10 13553391 [A/G] rs4750377 10 13573636 [A/G] rs4750379 10 13588521 [A/G] rs7089579 10 13606905 [T/C] rs4750385 10 13610149 [A/G] rs2478116 10 13615920 [T/C] exm810493 10 13639479 [T/C] NM_003675 PRPF18 EXON Missense_R30C exm810494 10 13639480 [A/G] NM_003675 PRPF18 EXON Missense_R30H newrs150642801 10 13639535 [A/G] NM_003675 PRPF18 EXON Synonymous_K48K exm810502 10 13642257 [A/G] NM_003675 PRPF18 EXON Missense_E53G rs9633780 10 13643158 [T/C] NM_003675 PRPF18 Silent rs2502207 10 13648003 [T/C] NM_003675 PRPF18 Silent rs10796100 10 13650853 [A/G] NM_003675 PRPF18 Silent rs7090752 10 13653390 [A/G] NM_003675 PRPF18 Silent exm810507 10 13653615 [A/G] NM_003675 PRPF18 EXON Missense_A171T variant.11654 10 13653688 [A/G] NM_003675 PRPF18 Silent rs11258480 10 13664667 [A/G] NM_003675 PRPF18 Silent rs7098174 10 13666931 [T/G] NM_003675 PRPF18 Silent rs7088328 10 13670850 [A/G] NM_003675 PRPF18 Silent rs4393223 10 13680726 [A/G] rs10508463 10 13684843 [T/C] rs17153667 10 13687890 [A/G] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A EXON Silent,Silent,Silent,Silent exm810533 10 13693960 [T/A] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A EXON Missense_N1055I,Missense_N1038I,Missense_N713I,Missense_N1022I variant.11656 10 13696427 [A/G] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A EXON Synonymous_T1046T,Synonymous_T1029T,Synonymous_T704T,Synonymous_T1013T rs10906442 10 13696570 [A/G] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent,Silent exm810557 10 13699052 [A/G] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A EXON Missense_T879M,Missense_T862M,Missense_T537M,Missense_T846M exm810570 10 13699338 [T/G] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A EXON Missense_T784P,Missense_T767P,Missense_T442P,Missense_T751P exm810573 10 13699395 [T/C] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A EXON Missense_T765A,Missense_T748A,Missense_T423A,Missense_T732A exm810581 10 13701374 [A/G] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A EXON Missense_P705L,Missense_P688L,Missense_P363L,Missense_P672L exm810583 10 13701402 [G/C] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A EXON Missense_P696A,Missense_P679A,Missense_P354A,Missense_P663A exm2249129 10 13702525 [A/G] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A EXON Synonymous_S596S,Synonymous_S579S,Synonymous_S254S,Synonymous_S563S rs7095861 10 13707569 [A/C] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent,Silent exm810614 10 13708098 [A/G] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A EXON Synonymous_D567D,Synonymous_D550D,Synonymous_D225D,Synonymous_D534D exm810618 10 13708148 [A/G] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A EXON Missense_R551C,Missense_R534C,Missense_R209C,Missense_R518C exm810619 10 13708172 [T/C] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A EXON Missense_I543V,Missense_I526V,Missense_I201V,Missense_I510V exm810624 10 13708259 [A/G] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A EXON Missense_R514C,Missense_R497C,Missense_R172C,Missense_R481C rs7906964 10 13708882 [A/G] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent,Silent rs10796110 10 13709426 [A/G] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent,Silent rs7086327 10 13716316 [A/G] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent,Silent rs750976 10 13724841 [A/G] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent,Silent rs943099 10 13727937 [T/C] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent,Silent rs943101 10 13729426 [A/C] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent,Silent rs10796113 10 13730004 [A/G] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent,Silent rs2182404 10 13733923 [T/G] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent,Silent rs2077150 10 13734850 [T/C] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent,Silent rs1887004 10 13740917 [T/C] NM_001318337,NM_001318336,NM_001318338,NM_018027 FRMD4A,FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent,Silent rs2296599 10 13752381 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent exm-rs1541010 10 13755544 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs3814667 10 13759976 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs7901483 10 13762356 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs12359348 10 13765950 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs756068 10 13771761 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs6602679 10 13782605 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs10737079 10 13785400 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs7921755 10 13787691 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs12218115 10 13791188 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs4424567 10 13801269 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs11258592 10 13818934 [A/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs2400015 10 13821953 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs4750414 10 13825834 [A/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs10796127 10 13826242 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs1881584 10 13831712 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs4750416 10 13834678 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs3995590 10 13836782 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent exm810685 10 13838567 [G/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A EXON Missense_Q109H,Missense_Q92H,Missense_Q76H exm810687 10 13852814 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A EXON Missense_T102M,Missense_T85M,Missense_T69M rs10906496 10 13854618 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs10906498 10 13859410 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs7904993 10 13863721 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs11258651 10 13867888 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs11258656 10 13869240 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs10906503 10 13869987 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs7900034 10 13875739 [A/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs7894550 10 13883460 [T/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs7073646 10 13884259 [T/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs7097221 10 13885487 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs10430781 10 13898154 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs7096973 10 13900071 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs7898937 10 13914547 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs11258686 10 13917699 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs4750436 10 13926403 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs751498 10 13929130 [A/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs10437551 10 13934839 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs2610803 10 13939530 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs10906535 10 13942170 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs3235 10 13949609 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs2698110 10 13956618 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs2797866 10 13962622 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs2797862 10 13965510 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs2995648 10 13967259 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs1343005 10 13968186 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs2797890 10 13974185 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs10906545 10 13978235 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs1026580 10 13981162 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs4354606 10 13989027 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs1993742 10 13989224 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs7081208 10 13991865 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs2457849 10 13998736 [T/C] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs2447026 10 14002143 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs2446581 10 14008445 [A/G] NM_001318337,NM_001318336,NM_018027 FRMD4A,FRMD4A,FRMD4A Silent,Silent,Silent rs4237437 10 14018711 [A/G] NM_001318336,NM_018027 FRMD4A,FRMD4A Silent,Silent rs11258774 10 14029701 [A/G] NM_001318336,NM_018027 FRMD4A,FRMD4A Silent,Silent rs2447011 10 14032199 [T/C] NM_001318336,NM_018027 FRMD4A,FRMD4A Silent,Silent rs11258789 10 14040104 [A/G] NM_001318336,NM_018027 FRMD4A,FRMD4A Silent,Silent rs4329578 10 14040425 [A/G] NM_001318336,NM_018027 FRMD4A,FRMD4A Silent,Silent rs2292368 10 14050695 [T/C] NM_018027 FRMD4A Silent rs2457837 10 14051456 [T/C] NM_018027 FRMD4A Silent rs10906566 10 14053253 [T/G] NM_018027 FRMD4A Silent rs2457857 10 14060679 [A/C] NM_018027 FRMD4A Silent rs11258809 10 14065696 [T/G] NM_018027 FRMD4A Silent rs1599942 10 14070693 [A/G] NM_018027 FRMD4A Silent rs1967380 10 14070935 [T/C] NM_018027 FRMD4A Silent rs12245506 10 14076153 [T/G] NM_018027 FRMD4A Silent rs4508098 10 14079996 [T/C] NM_018027 FRMD4A Silent rs922242 10 14085835 [T/C] NM_018027 FRMD4A Silent rs7099081 10 14086579 [A/G] NM_018027 FRMD4A Silent rs12250709 10 14089451 [T/C] NM_018027 FRMD4A Silent rs7901315 10 14099306 [A/C] NM_018027 FRMD4A Silent rs7901466 10 14099459 [A/G] NM_018027 FRMD4A Silent rs10906590 10 14100104 [A/G] NM_018027 FRMD4A Silent rs1000962 10 14114183 [A/G] NM_018027 FRMD4A Silent rs11818968 10 14117439 [T/C] NM_018027,NR_120638 FRMD4A,LOC101928453 Silent,Silent rs744443 10 14122981 [A/C] NM_018027,NR_120638 FRMD4A,LOC101928453 Silent,Silent rs2614143 10 14123459 [A/G] NM_018027,NR_120638 FRMD4A,LOC101928453 Silent,Silent rs1359731 10 14125252 [T/C] NM_018027,NR_120638,NR_134578 FRMD4A,LOC101928453,FRMD4A EXON Silent,Silent,Silent rs898716 10 14125653 [A/G] NM_018027,NR_120638,NR_134578 FRMD4A,LOC101928453,FRMD4A EXON Silent,Silent,Silent rs789767 10 14134826 [T/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs10796153 10 14136905 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs789761 10 14137678 [A/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs789760 10 14137810 [A/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs9787650 10 14145486 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs11258865 10 14146432 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs1327003 10 14148412 [T/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs1327002 10 14148481 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs1536450 10 14155918 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs7908576 10 14163016 [A/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs10796158 10 14163942 [T/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs12572893 10 14168791 [A/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs7903598 10 14169524 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs9663251 10 14182045 [A/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs2400042 10 14183105 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs11258894 10 14183371 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs7088074 10 14184558 [A/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs11258903 10 14196780 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs11258916 10 14217262 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs11258918 10 14218291 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs7905928 10 14227908 [T/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs7068441 10 14234352 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs7080759 10 14237503 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs7078954 10 14249417 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs4750489 10 14251892 [A/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs11258947 10 14260500 [A/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs1983907 10 14262019 [A/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs11258957 10 14272308 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs7068964 10 14275726 [A/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs7902063 10 14276664 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs1218400 10 14284219 [A/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs1218386 10 14285913 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs10796175 10 14293525 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs1717516 10 14299518 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs1218334 10 14305453 [A/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs1218335 10 14306078 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs1218343 10 14311615 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs1218366 10 14322668 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs1218370 10 14327174 [T/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs1235022 10 14327976 [A/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs12360009 10 14333240 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs4750506 10 14342356 [A/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs10752336 10 14343055 [A/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs1218471 10 14345658 [T/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs11259005 10 14354960 [A/C] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs1018664 10 14365504 [T/G] NM_018027,NR_134578 FRMD4A,FRMD4A Silent,Silent rs7077504 10 14374315 [A/G] rs7077526 10 14374370 [A/G] rs7082219 10 14375259 [T/G] rs11259022 10 14385164 [A/G] exm2249131 10 14391273 [T/C] rs4750511 10 14391273 [T/C] rs10906653 10 14396207 [T/C] rs7895948 10 14398313 [T/C] rs1475539 10 14413667 [A/G] rs679295 10 14421577 [A/C] rs655463 10 14428263 [A/G] rs12259015 10 14430522 [A/G] rs10906662 10 14430536 [A/G] rs7095877 10 14434447 [A/G] rs789680 10 14438913 [A/G] rs1925935 10 14439216 [A/G] rs10796185 10 14445111 [T/C] rs17155248 10 14449211 [A/G] rs11259069 10 14450887 [A/C] rs2480536 10 14452480 [A/G] rs2480538 10 14452543 [A/G] rs880853 10 14458582 [T/C] rs1325897 10 14473162 [T/C] rs11259089 10 14474167 [A/G] rs7911697 10 14485205 [A/G] rs12244056 10 14487813 [T/G] rs7905868 10 14488967 [T/C] rs3889775 10 14491517 [T/C] rs1325889 10 14498050 [T/G] rs7914718 10 14500618 [T/G] rs10906682 10 14500774 [T/C] rs4750524 10 14502855 [T/C] rs7099780 10 14505850 [A/G] rs1853878 10 14510638 [A/C] rs11259120 10 14511480 [A/G] rs11259131 10 14514061 [T/G] rs7088537 10 14518072 [A/G] rs942935 10 14519892 [A/G] rs7083394 10 14523377 [T/C] rs7897612 10 14533738 [T/C] rs1887091 10 14535113 [T/C] rs11259144 10 14548864 [T/C] rs10508476 10 14555187 [T/C] rs3780915 10 14563097 [A/G] NM_001282703,NM_001320741,NM_001282702,NM_001282696,NM_001320735,NM_001320736,NM_031453,NM_001282697,NM_001282695,NM_001320737,NM_001282698,NM_001320740,NM_001320738,NM_001282699,NM_001282700,NM_001320739,NM_001282701 FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm810716 10 14563299 [G/C] NM_001282703,NM_001320741,NM_001282702,NM_001282696,NM_001320735,NM_001320736,NM_031453,NM_001282697,NM_001282695,NM_001320737,NM_001282698,NM_001320740,NM_001320738,NM_001282699,NM_001282700,NM_001320739,NM_001282701 FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B EXON Missense_L96V,Missense_L135V,Missense_L96V,Missense_L96V,Missense_L96V,Missense_L96V,Missense_L271V,Missense_L96V,Missense_L96V,Missense_L96V,Missense_L96V,Missense_L96V,Missense_L96V,Missense_L96V,Missense_L96V,Missense_L96V,Missense_L96V exm810721 10 14563960 [T/C] NM_001282703,NM_001320741,NM_001282702,NM_001282696,NM_001320735,NM_001320736,NM_031453,NM_001282697,NM_001282695,NM_001320737,NM_001282698,NM_001320740,NM_001320738,NM_001282699,NM_001282700,NM_001320739,NM_001282701 FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B EXON Missense_D63N,Missense_D102N,Missense_D63N,Missense_D63N,Missense_D63N,Missense_D63N,Missense_D238N,Missense_D63N,Missense_D63N,Missense_D63N,Missense_D63N,Missense_D63N,Missense_D63N,Missense_D63N,Missense_D63N,Missense_D63N,Missense_D63N rs11259159 10 14574817 [T/C] NM_001282703,NM_001282702,NM_001282696,NM_001320735,NM_001320736,NM_031453,NM_001282697,NM_001282695,NM_001320737,NM_001282698,NM_001320740,NM_001320738,NM_001282699,NM_001282700,NM_001320739,NM_001282701 FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7082124 10 14577404 [A/G] NM_001282703,NM_001282702,NM_001282696,NM_001320735,NM_001320736,NM_031453,NM_001282697,NM_001282695,NM_001320737,NM_001282698,NM_001320740,NM_001320738,NM_001282699,NM_001282700,NM_001320739,NM_001282701 FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12359615 10 14579015 [T/C] NM_001282703,NM_001282702,NM_001282696,NM_001320735,NM_001320736,NM_031453,NM_001282697,NM_001282695,NM_001320737,NM_001282698,NM_001320740,NM_001320738,NM_001282699,NM_001282700,NM_001320739,NM_001282701 FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12767252 10 14590542 [T/C] NM_001282703,NM_001282702,NM_001282696,NM_001320735,NM_001320736,NM_031453,NM_001282697,NM_001282695,NM_001320737,NM_001282698,NM_001320738,NM_001282699,NM_001282700,NM_001320739,NM_001282701 FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7919989 10 14596685 [T/C] NM_001282703,NM_001282702,NM_001282696,NM_001320735,NM_001320736,NM_031453,NM_001282697,NM_001282695,NM_001320737,NM_001282698,NM_001320738,NM_001282699,NM_001282700,NM_001282701 FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11259181 10 14596739 [A/C] NM_001282703,NM_001282702,NM_001282696,NM_001320735,NM_001320736,NM_031453,NM_001282697,NM_001282695,NM_001320737,NM_001282698,NM_001320738,NM_001282699,NM_001282700,NM_001282701 FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17155483 10 14607610 [T/C] NM_001282703,NM_001282702,NM_001282696,NM_001320735,NM_001320736,NM_031453,NM_001282697,NM_001282695,NM_001320737,NM_001282698,NM_001282699,NM_001282700,NM_001282701 FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7092057 10 14609795 [A/G] NM_001282703,NM_001282702,NM_001282696,NM_001320735,NM_001320736,NM_031453,NM_001282697,NM_001282695,NM_001320737,NM_001282698,NM_001282699,NM_001282700,NM_001282701 FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B,FAM107B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7904177 10 14618846 [T/C] NM_001282696,NM_031453,NM_001282697,NM_001282695 FAM107B,FAM107B,FAM107B,FAM107B Silent,Silent,Silent,Silent rs1409392 10 14621153 [T/C] NM_001282696,NM_031453,NM_001282697,NM_001282695 FAM107B,FAM107B,FAM107B,FAM107B Silent,Silent,Silent,Silent rs17155499 10 14622448 [T/C] NM_001282696,NM_031453,NM_001282697,NM_001282695 FAM107B,FAM107B,FAM107B,FAM107B Silent,Silent,Silent,Silent rs1409391 10 14627825 [T/C] NM_001282696,NM_031453,NM_001282697,NM_001282695 FAM107B,FAM107B,FAM107B,FAM107B Silent,Silent,Silent,Silent rs11259210 10 14633723 [T/C] NM_001282696,NM_031453,NM_001282697,NM_001282695 FAM107B,FAM107B,FAM107B,FAM107B Silent,Silent,Silent,Silent rs11259220 10 14651346 [A/G] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs10906717 10 14666221 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs8181403 10 14679858 [A/G] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs1555985 10 14682480 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs4463750 10 14686790 [A/G] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent exm-rs7903263 10 14698952 [A/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs10906734 10 14700243 [A/G] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs755277 10 14704727 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent var_10_14709628 10 14709628 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent indel.11663 10 14709649 [I/D] NM_031453,NM_001282695 FAM107B,FAM107B EXON newrs111681891 10 14709678 [A/G] NM_031453,NM_001282695 FAM107B,FAM107B EXON Nonsense_R142X,Silent rs10906737 10 14711514 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs7910586 10 14720930 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs11259266 10 14722720 [A/G] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs7096784 10 14723524 [A/G] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs12264162 10 14725454 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs7922034 10 14728558 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs2948719 10 14730911 [T/G] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs4750552 10 14731449 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs3107803 10 14733465 [A/G] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs1410077 10 14734699 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs1410073 10 14734972 [T/G] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs2688838 10 14737912 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs11259283 10 14740813 [T/G] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs7911059 10 14741040 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs11259287 10 14744006 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs7913807 10 14753970 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs2250712 10 14759792 [A/G] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs7897176 10 14767687 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs883814 10 14769911 [A/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs2257172 10 14777585 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs7921961 10 14778352 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs2601751 10 14781173 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs12244530 10 14793995 [T/G] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs7092449 10 14797275 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent rs2768713 10 14813860 [A/G] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent exm2259559 10 14813860 [A/G] NM_031453,NM_001282695 FAM107B,FAM107B Silent,Silent exm810737 10 14816259 [A/G] NM_031453,NM_001282695 FAM107B,FAM107B EXON Missense_T135M,Silent exm810747 10 14816424 [T/C] NM_031453,NM_001282695 FAM107B,FAM107B EXON Missense_S80N,Silent exm810753 10 14816550 [T/G] NM_031453,NM_001282695 FAM107B,FAM107B EXON Missense_A38D,Silent rs927935 10 14822491 [T/G] rs17773098 10 14822827 [T/G] rs10906761 10 14839929 [T/C] rs4750561 10 14841026 [T/C] rs2688848 10 14843833 [T/C] rs2688847 10 14844884 [A/G] rs11259350 10 14845305 [T/C] rs2400102 10 14845687 [T/G] rs2609839 10 14846174 [A/G] rs7091494 10 14847149 [A/G] rs7079833 10 14847220 [T/C] rs10906767 10 14856108 [A/G] indel.11668 10 14862049 [D/I] NM_001029954 CDNF EXON exm810762 10 14862082 [G/C] NM_001029954 CDNF EXON Missense_W154S exm810763 10 14862140 [A/C] NM_001029954 CDNF EXON Missense_A135S indel.11669 10 14862151 [I/D] NM_001029954 CDNF EXON rs7900873 10 14863864 [A/G] NM_001029954 CDNF Silent rs7099185 10 14864846 [A/G] NM_001029954 CDNF Silent exm810769 10 14867562 [A/G] NM_001029954 CDNF EXON Missense_R101C exm810770 10 14867578 [G/C] NM_001029954 CDNF EXON Missense_I95M variant.11670 10 14870251 [A/G] NM_001029954 CDNF EXON Nonsense_R46X rs7094179 10 14872427 [A/C] NM_001029954 CDNF Silent exm810802 10 14890639 [A/G] NM_016299 HSPA14 EXON Missense_A85T exm810805 10 14890829 [A/C] NM_016299 HSPA14 EXON Missense_T104N rs7894284 10 14894901 [T/C] NM_016299 HSPA14 Silent exm810823 10 14896155 [G/C] NM_016299 HSPA14 EXON Missense_R256G exm2216971 10 14896189 [T/C] NM_016299 HSPA14 EXON Missense_V267A exm810835 10 14897929 [T/A] NM_016299 HSPA14 EXON Missense_D327V rs12098756 10 14901698 [T/C] NM_016299 HSPA14 Silent exm810844 10 14909738 [A/G] NM_016299 HSPA14 EXON Missense_V404M rs11259373 10 14916910 [T/C] exm810860 10 14939011 [A/G] NR_034181,NM_001193426,NM_001193424,NM_001193425,NM_001193427,NM_024670 SUV39H2,SUV39H2,SUV39H2,SUV39H2,SUV39H2,SUV39H2 EXON Silent,Silent,Missense_N115S,Missense_N55S,Silent,Missense_N55S exm810866 10 14939212 [C/G] NR_034181,NM_001193426,NM_001193424,NM_001193425,NM_001193427,NM_024670 SUV39H2,SUV39H2,SUV39H2,SUV39H2,SUV39H2,SUV39H2 EXON Silent,Silent,Missense_S182T,Missense_S122T,Silent,Missense_S122T rs10430783 10 14941965 [T/C] NR_034181,NM_001193426,NM_001193424,NM_001193425,NM_001193427,NM_024670,NM_001350967,NM_001350966,NM_001350965,NR_146960 SUV39H2,SUV39H2,SUV39H2,SUV39H2,SUV39H2,SUV39H2,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm810898 10 14950496 [A/G] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R549X,Nonsense_R664X,Nonsense_R544X,Nonsense_R544X,Nonsense_R544X,Nonsense_R544X,Nonsense_R549X,Nonsense_R549X,Silent indel.11675 10 14950582 [I/D] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON exm810920 10 14951101 [A/T] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_E342V,Missense_E347V,Missense_E462V,Silent,Silent,Silent,Missense_E347V,Missense_E462V,Missense_E342V,Missense_E342V,Missense_E342V,Missense_E342V,Missense_E347V,Missense_E347V,Silent indel.11677 10 14951219 [I/D] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON variant.11678 10 14961746 [A/G] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Nonsense_R263X,Nonsense_R268X,Nonsense_R383X,Silent,Silent,Silent,Nonsense_R268X,Nonsense_R383X,Nonsense_R263X,Nonsense_R263X,Nonsense_R263X,Nonsense_R263X,Nonsense_R268X,Nonsense_R268X,Silent exm810938 10 14965056 [A/T] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_L209M,Missense_L214M,Missense_L329M,Silent,Silent,Silent,Missense_L214M,Missense_L329M,Missense_L209M,Missense_L209M,Missense_L209M,Missense_L209M,Missense_L214M,Missense_L214M,Silent exm810939 10 14968855 [G/C] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_S200C,Missense_S205C,Missense_S320C,Silent,Silent,Silent,Missense_S205C,Missense_S320C,Missense_S200C,Missense_S200C,Missense_S200C,Missense_S200C,Missense_S205C,Missense_S205C,Silent exm810950 10 14974905 [T/C] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_H123R,Missense_H128R,Missense_H243R,Silent,Silent,Silent,Missense_H128R,Missense_H243R,Missense_H123R,Missense_H123R,Missense_H123R,Missense_H123R,Missense_H128R,Missense_H128R,Silent exm810956 10 14976501 [C/G] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_V66L,Missense_V71L,Missense_V186L,Silent,Silent,Silent,Missense_V71L,Missense_V186L,Missense_V66L,Missense_V66L,Missense_V66L,Missense_V66L,Missense_V71L,Missense_V71L,Silent exm810957 10 14976703 [T/C] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_R59Q,Missense_R64Q,Missense_R179Q,Silent,Silent,Silent,Missense_R64Q,Missense_R179Q,Missense_R59Q,Missense_R59Q,Missense_R59Q,Missense_R59Q,Missense_R64Q,Missense_R64Q,Silent exm810958 10 14976727 [C/G] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_P51R,Missense_P56R,Missense_P171R,Silent,Silent,Silent,Missense_P56R,Missense_P171R,Missense_P51R,Missense_P51R,Missense_P51R,Missense_P51R,Missense_P56R,Missense_P56R,Silent exm810964 10 14977503 [T/G] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_Q21H,Missense_Q26H,Missense_Q141H,Silent,Silent,Silent,Missense_Q26H,Missense_Q141H,Missense_Q21H,Missense_Q21H,Missense_Q21H,Missense_Q21H,Missense_Q26H,Missense_Q26H,Silent exm810966 10 14977507 [A/G] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Missense_A20V,Missense_A25V,Missense_A140V,Silent,Silent,Silent,Missense_A25V,Missense_A140V,Missense_A20V,Missense_A20V,Missense_A20V,Missense_A20V,Missense_A25V,Missense_A25V,Silent newrs121908156 10 14987109 [A/G] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Silent,Silent,Nonsense_R81X,Silent,Silent,Silent,Silent,Nonsense_R81X,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm810977 10 14987123 [C/G] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Silent,Silent,Missense_R76T,Silent,Silent,Silent,Silent,Missense_R76T,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm810980 10 14987138 [A/G] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Silent,Silent,Missense_T71M,Silent,Silent,Silent,Silent,Missense_T71M,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.11681 10 14987141 [D/I] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON exm810981 10 14987181 [A/C] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Silent,Silent,Missense_V57F,Silent,Silent,Silent,Silent,Missense_V57F,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3814175 10 14996416 [A/G] NM_001350967,NM_001350966,NM_001350965,NR_146960,NR_110297,NR_146962,NM_022487,NM_001033855,NM_001033858,NM_001289079,NM_001289077,NM_001033857,NM_001289078,NM_001289076,NR_146961 DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C,DCLRE1C EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2266964 10 15003278 [A/G] NR_147060,NM_001080836 MEIG1,MEIG1 Silent,Silent exm810990 10 15008475 [A/G] NR_147060,NM_001080836 MEIG1,MEIG1 EXON Silent,Missense_S3N exm810992 10 15008493 [A/C] NR_147060,NM_001080836 MEIG1,MEIG1 EXON Silent,Missense_K9T rs4750568 10 15008493 [A/C] NR_147060,NM_001080836 MEIG1,MEIG1 EXON Silent,Missense_K9T exm810993 10 15008502 [A/G] NR_147060,NM_001080836 MEIG1,MEIG1 EXON Silent,Missense_S12N exm810994 10 15008508 [G/C] NR_147060,NM_001080836 MEIG1,MEIG1 EXON Silent,Missense_A14G rs7087438 10 15009109 [T/C] NR_147060,NM_001080836 MEIG1,MEIG1 Silent,Silent rs2298112 10 15012535 [A/C] NR_147060,NM_001080836 MEIG1,MEIG1 Silent,Silent variant.11686 10 15014551 [T/C] NR_147060,NM_001080836 MEIG1,MEIG1 EXON Silent,Nonsense_Q60X rs5019235 10 15014844 [T/C] NR_147060,NM_001080836 MEIG1,MEIG1 EXON Silent,Silent rs4276994 10 15020847 [T/G] NR_147060 MEIG1 Silent rs10752345 10 15027214 [A/G] NR_147060 MEIG1 Silent rs2078000 10 15037868 [A/G] rs4750578 10 15045263 [T/C] rs6602797 10 15045634 [A/C] rs2007712 10 15057374 [A/G] NR_144469,NR_144471 DCLRE1CP1,ACBD7-DCLRE1CP1 EXON Silent,Silent rs7916087 10 15060883 [A/G] NR_144469,NR_144471 DCLRE1CP1,ACBD7-DCLRE1CP1 Silent,Silent rs10906803 10 15070615 [A/G] NR_144469,NR_144471 DCLRE1CP1,ACBD7-DCLRE1CP1 Silent,Silent rs7918081 10 15073244 [A/G] NR_144469,NR_144471 DCLRE1CP1,ACBD7-DCLRE1CP1 Silent,Silent rs17156239 10 15079699 [T/C] NR_144471 ACBD7-DCLRE1CP1 Silent rs4556439 10 15081878 [T/C] NR_144471 ACBD7-DCLRE1CP1 Silent rs3763787 10 15086306 [A/C] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH Silent,Silent,Silent variant.11689 10 15089387 [A/G] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH Silent,Silent,Silent exm811021 10 15091698 [T/C] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH EXON Silent,Missense_P33S,Missense_P33S exm811022 10 15091707 [A/G] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH EXON Silent,Missense_G36R,Missense_G36R rs7099737 10 15095122 [A/G] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH Silent,Silent,Silent exm811041 10 15098983 [T/G] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH Silent,Silent,Silent exm811042 10 15103744 [G/C] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH EXON Silent,Missense_G115A,Missense_G62A exm811046 10 15103848 [T/C] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH EXON Silent,Missense_F150L,Missense_F97L variant.11693 10 15106401 [A/G] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH Silent,Silent,Silent exm811063 10 15107599 [A/G] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH EXON Silent,Missense_R193H,Missense_R140H indel.11694 10 15107664 [D/I] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH EXON exm811067 10 15107752 [T/C] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH EXON Silent,Missense_T244I,Missense_T191I exm811068 10 15107753 [A/G] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH Silent,Silent,Silent variant.11697 10 15107757 [A/G] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH Silent,Silent,Silent rs17156272 10 15108508 [T/G] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH Silent,Silent,Silent variant.11698 10 15113792 [A/G] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH Silent,Silent,Silent exm811072 10 15113876 [C/G] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH EXON Silent,Missense_A272P,Missense_A219P indel.11700 10 15115091 [I/D] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH EXON rs4748140 10 15115719 [G/C] NR_144471,NM_018324,NM_001039702 ACBD7-DCLRE1CP1,OLAH,OLAH EXON Silent,Silent,Silent rs7902261 10 15117672 [T/G] NR_144471,NM_001039844 ACBD7-DCLRE1CP1,ACBD7 EXON Silent,Silent exm811082 10 15120538 [A/G] NR_144471,NM_001039844 ACBD7-DCLRE1CP1,ACBD7 EXON Silent,Synonymous_Y86Y exm811089 10 15120604 [T/C] NR_144471,NM_001039844 ACBD7-DCLRE1CP1,ACBD7 Silent,Silent exm811093 10 15120725 [T/C] NR_144471,NM_001039844 ACBD7-DCLRE1CP1,ACBD7 EXON Silent,Missense_G53D exm811102 10 15120942 [A/C] NR_144471,NM_001039844 ACBD7-DCLRE1CP1,ACBD7 EXON Silent,Missense_I37R rs1041158 10 15125971 [A/G] NR_144471,NM_001039844 ACBD7-DCLRE1CP1,ACBD7 Silent,Silent rs6602806 10 15126323 [T/C] NR_144471,NM_001039844 ACBD7-DCLRE1CP1,ACBD7 Silent,Silent rs12254027 10 15134222 [A/G] exm811114 10 15138387 [T/G] NM_153244 C10orf111 EXON Missense_T146N exm811116 10 15138418 [T/A] NM_153244 C10orf111 EXON Missense_T136S exm811119 10 15138451 [T/C] NM_153244 C10orf111 EXON Missense_G125S exm811121 10 15138570 [G/C] NM_153244 C10orf111 EXON Missense_R85P var_10_15138595 10 15138595 [A/G] NM_153244 C10orf111 EXON Nonsense_Q77X exm811124 10 15138615 [T/C] NM_153244 C10orf111 EXON Misse