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

• ALT

• END

• Vartype

Gene and transcript data

• Gene

• Transcript

• Effect

Quality metrics

• Quality

• Depth

• Alternate Read

• Proband Zygosity

• Allele Bias

Population frequency data

• GnomAD AF

• GnomAD AC

• GnomAD SV AF

• GnomAD SV AC

• Max AF

Pathogenicity and interpretation

• Pathogenicity

• Coding Change

• Protein Change

• Hom

• Hemi

• Tag

Prediction and scoring tools

• Prediction

• SpliceAI DS AG, AL, DG, DL

• SIFT Pred

• LRT Pred

• MutationTaster Pred

• PolyPhen2_HVAR Pred

• PolyPhen2_HDIV Pred

• DANN Score

• REVEL Score

• CADD Phred Score

• PrimateAI3D Score

• PrimateAI3D Prediction

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

• Diseases

• Disease Inheritance Mode

Additional case metrics

• Phenomeld Score

• AI Rank

• Individual Genotype

• Variant length (kbp)

• ISCN

• Cytoband

• Bin Count

• Variant Inheritance