Additionally, clinically relevant germline variants were detected in four cancer-associated genes, including an SBDS splice-site mutation (c.258 + 2T > C) in a rhabdomyosarcoma, BARD1 p.E652fs*69 in a neuroblastoma, EP300 p.A2259fs*20, and EXT2 p.W414* in two osteosarcoma patients (Supplementary Table 5). The gene discussed is EXT2; the disease is cancer.