Figure 4

Application to pathogenic germline and cancer somatic regulatory variants. (A) Score distribution of variants based on their recurrence in COSMIC. Variants are classified into three categories based on the number of recurrent samples; (B) Score distribution of variants based on recurrent regulatory elements in 119 breast cancer samples. Recurrent regulatory elements are defined as elements mutated in more than one sample, such as the same DNase I hypersensitive site; (C) Prediction scores for regulatory variants in HGMD and controls; (D) ROC curves comparing HGMD variants with controls. All scores in this figure are `core scores’ (Figure 2).