MSH6 and gastrointestinal stromal tumor: We also analyzed SNVs (frequency <5%) with potential clinical significance (risk factor, pathogenic, or association) in diseases other than GIST using ClinVar tool of ANNOVAR software, and identified several variants, including BRCA2 (rs201523522, p.Y57*), CHRNA5 (rs16969968, p.D398N), MAX (rs387906651, p.R33*), and MSH6 (rs201830316, p.N1273S) (Table 3 and Supplementary Table S6).