Fig. 1

The summary of the distribution of the overall variants in mCLM. Only protein-changing variants were considered, 7 952 silent variants were excluded from the analysis. (A) The classification of variants according to their functional effect (missense mutation, frameshift deletion/insertion, nonsense mutation, splice site, inframe deletion/insertion, translation start site, or nonstop mutation). On the x-axis, the counts are in the log scale. The most prevalent variants were missense. (B) The types of variants (TNP stands for trinucleotide variant; SNP, single nucleotide polymorphism; INS, insertion; DNP, dinucleotide variant; DEL, deletion). On the x-axis, counts are in the log scale. The most common type of variant was the SNP. (C) The type of nucleotide substitution. The most frequent substitution was the C > T transition. (D) The counts and distribution of the variants for the indicated samples; the dashed line represents a median (124 variants per sample excluding silent variants). Two TMB-H patients are separated to deflate the y-axis