Splice Variants VCF

File name: {Sample_ID}_SpliceVariants.vcf

Contains all candidate splice variants targeted by the TruSight Tumor 170 v2.0 panel identified by the RNA analysis pipeline.

The following filters can be applied for each variant call.

Filter Name

Description

LowQ

Splice Variant Score is < the Passing Quality Score threshold value of 1.

PASS

Splice Variant Score is ≥ to the Passing Quality Score threshold value of 1.

Each splice variant is annotated using the Illumina Annotation Engine and the following information is captured in the VCF if available:

HGNC Gene
Transcript
Exons
Introns
Canonical
Consequence

See the headers in the output for more information about each column.