A number of TFs somatically mutated in B-ALL, including PBX1 (Benjamini–Hochberg corrected P-value [PBH] = 0.007), TCF3 (PBH = 0.007), ETS1 (PBH = 0.009), RUNX1 (PBH = 0.012) and ERG (PBH = 0.030) (Supplementary Fig. 14) were enriched at risk loci providing evidence that germline variation and somatic alterations may impact on the same pathways. Here, ERG is linked to acute lymphoblastic leukemia.