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Output Files

The Output Files page provides access to the output files for each sample analysis. The following is the complete list of output files.

File Name

Source

Description

Pedigree.vcf.gz

Strelka

SNV, indel calls, and gVCF (including reference calls) for each member of the pedigree, in VCF 4.1 format.

Pedigree.vcf.gz.tbi

SampleName_S#.genome.vcf.gz

SampleName_S#.genome.vcf.gz.tbi

SampleName_S#.vcf.gz

SampleName_S#.vcf.gz.tbi

Pedigree.SV.vcf.gz

Manta and Canvas

SV calls for the pedigree

Pedigree.SV.vcf.gz.tbi

SampleName_S#.CNV.CoverageAndVariantFrequency.txt

Canvas

CNV calls and related data

SampleName_S#.CNV.partitioned

SampleName_S#.CNV.VFResults.txt.gz

Pedigree.json.gz

Illumina Annotation Engine

Variant annotations

Pedigree.SV.json.gz

SampleName_S#.json.gz

SampleName_S#.SV.json.gz

SampleName_S#.summary.csv

Reporting

High-level metrics for each sample

Pedigree.report.pdf

Summary report on the pedigree

Pedigree.report.html

For Research Use Only. Not for use in diagnostic procedures. 

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