References
This table is an extended version of Table S1 from Sosinsky et al. 2024 "Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumours from the 100,000 Genomes Cancer Programme".
About the Data
All data has been calculated in accordance with SVIG version 1.0.
These variants were re-annotated using Ensembl v107 and MANE Select transcripts where applicable. If no MANE Select transcript was available, an Ensembl Canonical transcript was used. Variants which had no impact on the protein or splicing after re-annotation (i.e. annotated as synonymous, intronic, upstream or downstream variants) were omitted.
Tumour types with less than 5 cases were omitted from the analysis.
Please note that HGVSp. predictions were generated automatically and should be double-checked, especially for small insertion or deletion variants where a minority of variants may have complex nomenclature varying between prediction tools. Inserted protein sequence for complex insertions (inframe_insertions resulting in a delins of amino acids) in this data set were re-annotated using VariantValidator version 3.0.2.dev143+g6213c80fe.