Reanalysing this dataset with Var∣Decrypt after filtering out the putative false-positive hits (i.e., highly mutated gene families such as MUC genes, see above) using the filtering options (frequency less than 4 mutations by gene within 20% of the cohort), and after crossing the mutated gene list with cancer gene databases (COSMIC, as in [29]) led to very similar identification of MM mutated hits, with frequent TP53 (47%), KRAS (40%), NRAS (30%), ATM (33%) alterations, and many epigenetic modifiers (BRD3, BRD4, SETD1B) and DNA repair proteins (FANCD2, RECQL4) (Additional file 4: Table S3). The gene discussed is SETD1B; the disease is Miyoshi myopathy.