Fig. 1

Heterogeneity in the expressed tumor mutational burden of primary MSS CRCs. a Range of TMBs of 121 primary MSS CRCs, including 8 multiregional samples from 3 tumors (indicated by asterisks colored according to tumor-of-origin). The bottom panel shows sample-wise mutations in five selected genes (two KRAS mutations detected by Sanger sequencing only are indicated with black outlines), tumor localization, and cancer stage. b Sample-wise proportion of the mutated loci with expression of the mutated allele. Non-expressed mutations were found either at the loci with exclusive expression of the wild-type allele or in non-expressed genes. The tumors are plotted in the same order as in a. c Frequency plot showing the median (dashed line) sample-wise proportion of expressed mutations. d Scatter plot showing correspondence between the expressed TMB and TMB, colored according to tumor location. e Density plot of DNA MAFs for mutations grouped according to expression category. In b, c, and e, only the mutated loci covered in the RNA sequencing data were included for calculations, while d shows the non-filtered TMB (corresponding with a)