Fig. 5

Example of breast cancer somatic variant with high overall RADAR score. a An example of a top-scoring BRCA1 intron HGMD variant highlighted by the universal RADAR score. This variant is in an RBP binding hotspot, shows a high GERP score, and breaks the motif of the splicing factor PRPF8 (red). b We selected an exonic variant with a high RADAR score on chromosome 17 as an example. It was inside an RBP binding hub with a high GERP score and breaks the motif of PPIG. It also has several tissue-specific features, like within the well-known cancer-associated gene TP53 (orange track), and its associated binding peaks were significantly burdened (dark green). Also, adding expression profiles from TCGA shows that 3 out of the 6 RBPs binding there demonstrated high regulation potentials in driving tumor-specific expression pattern. All these external pieces of evidence further boost this variant’s tissue-specific score.