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