Variant Annotation according to ACMG
Genome
Mode
Input Format (AVInput)
6 columns separated by Tab:
chr7 117199643 117199643 G T CFTR variant test
Columns: Chromosome | Start | End | Ref | Alt | Comment
Quick Examples (Click to Load)
Tips & Notes
Default genome: hg19 (GRCh37)
Mode switch: Fast uses key databases only (refGene, clinvar, gnomAD, dbNSFP)
hg38 support: Requires additional database configuration
Processing time: First run takes 1-3 minutes, subsequent runs are faster
Genome
Chr
POS
Ref
Alt
Comment
Preferred entry mode. This mirrors WinterVar's coordinate query while keeping the analysis pipeline fully compatible with AVInput.
Genome
rsID
We keep this mode as a quick reference point. The current pipeline resolves by coordinate, so use the coordinate fields or the example above for execution.
Genome
Gene
cDNA
This entry path resolves a supported HGNC + cDNA example into an executable coordinate-backed AVInput line before analysis.
Genome
Gene
Protein
This clinical entry mode resolves common HGNC + protein notation such as AR + p.P392S into a valid coordinate line before analysis.
Supports AVInput, tab-separated variants, and space-separated coordinate lines. This is the safest mode for batch or direct paste.
0
Total Variants
0
Pathogenic
0
Benign