COLO829 Somatic Genomics Pipeline

CIViC Evidence Coverage

SnpEff annotates each PASS call's protein-level change, then bin/civic_annotate.py queries CIViC's live GraphQL API for curated clinical evidence — mapping a called somatic variant through to real, up-to-date oncology evidence, entirely without human lookup.

Mutect2 PASS call
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SnpEff protein annotation (HGVS.p)
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CIViC live GraphQL query
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Curated evidence rows
132real CIViC evidence rows for BRAF V600E
8/8PASS calls run through the matcher
3disease contexts returned: melanoma, thyroid, colorectal
5non-coding calls correctly reported as not applicable

Evidence rows returned, per PASS call

BRAF V600E is one of oncology's most heavily curated variants — the row count reflects real breadth of curation, not a bug. Calls with a MODIFIER-impact (non-coding) annotation have no protein change to match against CIViC, and the matcher correctly reports that rather than forcing a guess.

BRAF V600E
132 rows
CDKN2A frameshift
0 — no exact CIViC match found
TERT promoter
0 — non-coding
BRAF body ×2
0 — non-coding
TP53 region ×3
0 — non-coding

CDKN2A's frameshift call was tried against all three candidate transcript names CIViC's schema could match — no exact match found, correctly reported as such rather than falling back to a broad category variant (e.g. "Loss"/"Deletion") that wouldn't be real evidence for this specific change.

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