Fig. 6

Mutational features of HR-deficient tumor genomes. a The contribution of COSMIC signature 3 to the SNV spectrum derived from whole exome sequence data of tumors from various tissues bearing biallelic inactivating mutations in the indicated genes. As a control, an equal randomly selected set of whole exome datasets was used with the same tissue type distribution and no biallelic mutation in the analyzed genes. A horizontal line indicates the median. Samples with over 40% of SNVs belonging to COSMIC spectra 6, 15, 20, or 26 suggesting mismatch repair deficiency are shown in magenta; samples with over 40% of SNVs belonging to COSMIC spectrum 11 suggesting POLE defect are shown in cyan. b Classification of deletions in the same samples by sequence context as on Fig. 3c; apparent deletions at repeats are not shown as these appear to include many false positive mutation calls. c Cumulative size distribution of deletions in those mutants in which the total number of deletions in all samples was greater than 10. Samples with suspected mismatch repair or POLE defect based on the SNV spectrum deconstruction were omitted from b, c