Two CNVs (chromosome 8q24.22-q24.3 and 11p11.2-p12 deletion) encompassed known germline cancer-predisposing genes (RECQL4 and EXT2, respectively) (65–67) and were not appeared in the DGV database, indicating both CNVs were probably damaging (Supplementary Figure S4E, F). Here, EXT2 is linked to cancer.