For example, the RNA splicing and processing theme involves 2,009 pSNVs in 652 genes (Fig. 4b), including 38 known cancer genes such as BRCA1, RBM15, CDK12, CDC73 and TOP1 (FDR p = 1.3e − 06, Fisher's exact test), as well as candidate cancer genes. The gene discussed is BRCA1; the disease is cancer.