Fig. 6

Genomic subsets with highly elevated mutation rates. a The decreasing genomic spans (x-axis) and increasing mutation rates (y-axis) are shown for nested genomic subsets for the signature 17b cohort. The cohort mutation rate is based on the entire non-coding genome, followed by the signature assigned 11-mers, hotspot-associated 11-mers, and finally, the subset falling in the genomic region with the highest (significant) observed mutation rate. The relative mutation rate increase from the prior set is shown and its significance indicated (red color scale; Bonferroni corrected p-value based on all 817 tests in full study; see Additional file 1: Fig. S2 for specific values). The overall total rate change compared with the cohort is given parenthetically. Mutation rate confidence intervals (CI-99%) are narrow and therefore invisible. b The genomic spans (y-axis) of genomic positions binned by their mutation rates (x-axis; log-scale) for the cohort, signature, hotspot, and genomic region subsets as defined above. The level of a mutation rate increase (red) or decrease (blue) is shown relative to the mean cohort mutation rate (8.72 SNV/Mb/patient for signature 17b; white). c Sequence information content surrounding the SNVs for each of the four genomic subsets defined in a. d, e, f UV-induced signature 7a genomic subsets visualized as in panels a–c. g, h, i POLE (polymerase epsilon deficiency) signature 62 genomic subsets visualized as in panels a–c. j, k, l Signature 72 (lymphoma-linked; unknown etiology) genomic subsets visualized as in panels a–c. Coresponding results for all signatures are given in Additional file 1: Fig. S1