Skip to content

Variant Details

Clicking a row in the variant table opens the Variant Details Panel on the right side of the screen. This panel provides comprehensive information about the selected variant.

Variant details panel with identity, scores, and external links

Panel Sections

Variant Identity

Shows the genomic coordinates (chr:pos:ref:alt) and any colocated variants.

Transcripts

Displays transcript annotations with MANE Select and canonical transcript indicators. You can fetch additional transcript data from VEP on demand.

Annotation Scores

Key pathogenicity and population scores:

  • gnomAD AF — Population allele frequency
  • CADD — Combined Annotation Dependent Depletion score
  • REVEL — Rare Exome Variant Ensemble Learner score (if enriched)
  • AlphaMissense — Protein structure-based pathogenicity (if enriched)
  • SpliceAI — Splice prediction scores (if enriched)

ACMG Classification

Quick-classify with one-click chips (P, LP, VUS, LB, B) or open the evidence editor for detailed ACMG/AMP criteria. See Annotations for details.

Tags

Assign custom tags to organize variants for review.

Comments

Add global or per-case comments to document your analysis reasoning.

Quick links to external databases:

  • UCSC Genome Browser
  • gnomAD
  • ClinVar
  • And any custom links configured in Settings

Resizing

Drag the left edge of the panel to resize it. Your preferred width is saved.