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Sample ID Genotypes of Interest

The DNA + RNA Amplicon app creates a VCF file (*.sampleID.vcf) and a CSV file (*.sampleID.csv). Each row in the output files represent a variant call of interest. The fields of the CSV file are defined in the following table.

Statistic

Definition

Chr

Name of the reference chromosome.

Position

Position within the reference chromosome.

ID

The identifier in dbSNP

RefAllele

The reference allele

AltAllele

The alt allele

Filters

The filters that have been applied to the variant.

GT

The genotype of the variant following the standard vcf annotation (eg, 0/0, 0/1, 1/1, 2/2, ./.).

GenotypeText

Human readable genotype of the variant: REF (reference), HET (heterozygous), HOM (homozygous alternate), NO_CALL, FORCED_REPORT, or OTHER_CALL.

GenotypeForwardAlleles

The observed alleles on the forward strands, separated by "/". For example: Ref/Ref, Ref/Alt, Alt/Alt, or NA for no call.

GenotypeTopAlleles

The two single nucleotide alleles on the top strands, concatenated (eg, AT).

When TopBotStrand is TOP, GenotypeTopAlleles contains bases in GenotypeForwardAlleles ordered alphabetically;

When TopBotStrand is BOT, GenotypeTopAlleles contains complements of the base ordered alphabetically;

When TopBotStrand is NA, GenotypeTopAlleles is NA.

TopBotStrand

Top or bottom strand (ie, TOP, BOT, or NA for indels). See the table below for the strand designation.

Allele1Top

The first (top) allele in the allele pair GenotypeTopAlleles (A/T/G/C or NA for indels).

Allele2Top

The second (top) allele in the allele pair GenotypeTopAlleles (A/T/G/C or NA for indels).

VariantQuality

Phred-scaled quality score indicating how confident we are in this asserted haplotype.

GQ

Phred-scaled quality score indicating how confident we are in this asserted genotype.

AD

The number of reads containing the variant allele.

DP

The number of reads aligned at this position.

VF

The proportion of the variant allele among all alleles being considered.

GoIFileName

The name of the input genotypes of interest (GoI) VCF files.

If multiple GoI files contain the same variant, the first GoI file name is used.