PMS2 and neoplasm: There was one tumor (colon cancer of dou_005) with double somatic mutations31 in MMR genes (c.582-591del at MLH1 and c.493delT at PMS2, variant allele fraction was 0.186 and 0.188, respectively) and the patient harbors germline pathogenic variant at MLH1. The details of LoF germline variants and somatic alteration of the corresponding tumors were described in Table S6 (Supplementary file 1).