Analysis Output | Analysis Reports | Sample Reports | Small Variants Summary

Small Variants Summary

The small variants analysis summary is available when you select a panel.

Table 17 Small Variants Summary Table
Statistic	Definition
Gene	The genes harboring the variant.
Chr	The chromosome name.
Position	The position on the chromosome.
Depth	The read depth at this position.
Ref	The reference allele.
Alt	The alternative allele.
Alt Freq	The observed alternate allele frequency.
Variant Type	The specific variant type. For more information, see http://uswest.ensembl.org/info/genome/variation/predicted_data.html#consequences.
dbSNP	The dbSNP ID.
COSMIC	Catalog of somatic mutations in cancer. Because of SNP filtering, some entries are not available on the COSMIC website. For more information, see http://cancer.sanger.ac.uk/cosmic/analyses.
ClinVar	ClinVar annotation.