We have published another revision to our pan-cancer splicing mutation database paper: Shirley BC, Mucaki EJ and Rogan PK. Pan-cancer repository of validated natural and cryptic mRNA splicing mutations F1000Research 2019, 7:1908 (https://f1000research.
com/articles/7-1908/v3). The paper is already indexed in PubMed.
In this version, we derive a simplified variant classification scheme with ClinVar designations calibrated to the molecular phenotypes of mRNA splicing mutations. These are now indicated in the ValidspliceMut (https://validsplicemut.
cytognomix.com) query results. The majority of variants cause aberrant splicing or are likely aberrant. Interestingly, a significant fraction of variants that have the same information, expression, population frequency properties as ClinVar variants designated as “benign” cause allele-specific alternative splicing.