Preview the COSMIC v90 release
14 Aug 2019
The v90 release is almost here. We are currently completing final preparations and carrying out testing. We have now prepared files that contain a sample of the complete dataset for each of the COSMIC download files. This gives you real data in the final v90 file format to manipulate and integrate ahead of the release. These taster files, along with complete file descriptions are available to download from the variant updates page.
As we mentioned in our recent email, these updates will cause significant changes in the upcoming release. A summary of these changes is included below, and full details are available on the variant updates page.
The significant changes in v90 include:
- Updated genes, transcripts and proteins from Ensembl release 93 on both the GRCh37 and GRCh38 assemblies.
- Full reannotation of COSMIC variants with known genomic coordinates using Ensembl's Variant Effect Predictor (VEP). This provides accurate and standardised annotation uniformly across all relevant transcripts and genes that include the genomic location of the variant.
- New stable genomic identifiers (COSV) that indicate the definitive position of the variant on the genome. These unique identifiers allow variants to be mapped between GRCh37 and GRCh38 assemblies and displayed on a selection of transcripts.
- Updated cross-reference links between COSMIC genes and other widely-used databases such as HGNC, RefSeq, UniProt and CCDS.
- Complete standardised representation of COSMIC variants, following the most recent HGVS recommendations, where possible.
- Remapping of gene fusions on the updated transcripts on both the GRCh37 and GRCh38 assemblies, along with the genomic coordinates for the breakpoint positions.
- Reduced redundancy of mutations. Duplicate variants have been merged into one representative variant.
The variant updates page will provide a central point for all technical details and up-to-date information regarding the changes that we are making to COSMIC. If you have any questions, please get in touch at cosmic@sanger.ac.uk.