Cancer Data Sets

This section provides details on the variant’s presence in different datasets.

Lab Frequency

Displays the number of samples with the variant in the given workgroup presented per disease. To be accounted for, the variant:

• Need to be present in any uploaded VCF or variant file

• Need to have a flag PASS in the VCF variant filters

• Doesn’t need to be interpreted or included in the report

• Can have any variant origin (predicted germline or suspected somatic)

Cancer Hotspots

The section displays:

• Number of samples in the Cancer Hotspots database with the variant per selected transcript

• Number of samples in the Cancer Hotspots database with the variant based on nucleotide change

COSMIC

The section displays:

• Genomic Mutation ID in the COSMIC database

• Number of samples with the variant in the COSMIC database displayed per cancer site, for example, breast

• Number of samples with the variant in the COSMIC database displayed per histology, for example, carcinoma