Version information
CGAR is written in Python 2.7 with Flask 1.0.2, Jinja 2.10.1 packages. The variant annotation in CGAR are based on the following annotation resources.
Name | Version (GRCh37) | Version (GRCh38) |
---|---|---|
Enesembl Variant Effect Predictor (VEP) | Release 94.5 | |
Database for Nonsynonymous SNPs' Functional Predictions (dbNSFP): Includes MutationTaster, MutationAccessor, FATHMM, PROVEAN, REVEL |
Release 4.0 beta 1 | |
Database of potential SNVs within Splicing Consensus regions (dbscSNV) | Release 1.1 | |
Combined Annotation Dependent Depletion (CADD) | v1.4 | |
The Human Gene Mutation Database (HGMD) | Professional 2018.2 | |
gnomAD allele frequency | Release 2.0.1 | |
gnomAD coverage metric | Release 2.0.1 | Not available |
GERP++ conservation score | From UCSC genome browser (http://genome.ucsc.edu) Last accessed: 2018-12-26. |
Not available |