RECQL4 and cancer: 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).