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Basic variant consequence annotation
Insilico predictions of effect of coding variants
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dBNSFP -
database of non-synonymous functional predictions (v5.3, October
2025)
Variant frequency databases
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gnomAD - germline
variant frequencies exome-wide (r2.1.1 (non-cancer subject allele
frequencies), r4.1)
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dbSNP - database of
short genetic variants (build 156)
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Cancer Hotspots - a resource
for statistically significant mutations in cancer (v2/v3,
2017/2026)
Variant databases of clinical utility
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ClinVar -
database of clinically related variants (June 2026)
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CIViC - clinical interpretations
of variants in cancer (June 20th 2026)
Protein domains/functional features
Cancer gene knowledge bases
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CancerMine -
Literature-mined database of tumor suppressor genes/proto-oncogenes
(v51, August 2025)
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Genomics England
PanelApp - cancer phenotype panels as of May 2026
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CanVar UK - genes implicated
with cancer susceptibility (v2.2)
