Download variants

Exporting annotated variant data facilitates collaboration and record-keeping. To start the download, click the Export icon at the top of the Analysis Tools tab.

The XLSX export file contains only the variants visible after applying filters. If your filtered list has more than 1,500 variants, the export file will include only the first 1,500.

Export file includes the following data:

Core case and variant identifiers

• Case ID

• Chromosome

• Position

• REF

Gene and transcript data

• Gene

• Transcript

• Effect

Quality metrics

• Quality

• Depth

• Alternate Read

• Proband Zygosity

Population frequency data

• GnomAD AF

• GnomAD AC

• GnomAD SV AF

• GnomAD SV AC

Pathogenicity and interpretation

• Pathogenicity

• Coding Change

• Protein Change

• Hom

Prediction and scoring tools

• Prediction

• SpliceAI DS AG, AL, DG, DL

• SIFT Pred

• LRT Pred

Constraint and gene-level scores

• ExAC pLI

• gnomAD pLI

• Missense z-score

• pRec

Curate and case annotations

• Known Variants

• Other Family Members

• Reference

• Evidence Text

Additional case metrics

• Phenomeld Score

• AI Rank

• Individual Genotype

• Variant length (kbp)