VCF Summary: Variant Counts, Ti/Tv and Zygosity

Count what is in your own VCF without uploading it: records, PASS calls, variant types, transitions and transversions, and one sample's zygosity.

Open the calculator → Runs in your browser. Data leaves only if you deliberately send a problem report from the interactive tool.

Example

Records
5, 4 PASS
NA00003
0 heterozygous, 3 homozygous alternate

Result: 5 records, 4 PASS; Ti/Tv 1.00; NA00003 het/hom-alt 0.00.

Answer the questions this way to reach that result. Your own answers give your own.

Inputs and output

What you enter

A .vcf, .vcf.gz or .vcf.bgz file and, if it has more than one sample, the sample to count. The file stays in the browser tab.

What you get
Record, PASS, reference-only and multiallelic counts; SNV, insertion, deletion and other ALT alleles; transitions, transversions and Ti/Tv; the sample's heterozygous, homozygous-alternate, reference and missing calls and het/hom-alt; counts per chromosome; the bytes read. No expected range is printed.

What this is

Large and bgzipped files are read a piece at a time.

When to use it

Use this to check a VCF before using it: whether it is the file you think it is, how many calls passed the caller's filters, and whether its Ti/Tv and het/hom-alt ratios look like the kind of data it should be.

How this is calculated

Citation

VCFv4.5 specification (samtools hts-specs): records, FILTER, REF and ALT alleles and per-sample GT. Transitions are A<->G and C<->T substitutions. No expected range is given: Ti/Tv and het/hom-alt depend on capture, caller and ancestry. Read the source ↗

A reference and educational tool. Not medical, legal, or financial advice, and not a substitute for clinician judgment.

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Built by Clay Good. Source on GitHub.