Navigation Bar – Filter Variants

Menu Description
Function List variants that are in coding, intronic, splicing regions. Selecting ‘Blank’ lists variants with no available database annotation information.
Coding impact List variants that are frameshift, missense, synonymous. Selecting ‘Blank’ lists variants with no available database annotation information.
DANN  Deep learning based score that measures pathogenicity from 0 (no pathogenicity) to 1 (high pathogenicity). 
RefSeq transcript id Associated reference transcript identification number (e.g., NM_002834.4).
cDNA Codon change of variant (e.g., c.592G>A).
COSMIC ids COSMIC variant id (e.g., COSM13027)
Protein Protein change of variant (e.g., KRAS:p.G12A).
ClinVar List variants with ClinVar annotations. Selecting ‘Blank’ lists variants with no available database annotation information.
Variant type List type of variant (e.g., SNV)
Gene List gene on which variant resides (only exonic variants)
dbSNP rsids List RS ids of variant (e.g., rs10904520)
Allele Freq (gnomAD) List genome aggregation annotation ids.