Fig. 4: Atypical TERTp mutations co-occur in cis with canonical drivers in 100k Genomes melanomas.

a Somatic mutations at positions of interest in the TERTp in the Genomics England 100k Genomes melanoma cohort. 335 samples are shown ordered by tumour mutation burden (TMB). The fraction of mutations attributed to the UV signature SBS7 is indicated for each sample (blue = 0%; orange = 100%). b Allele phasing in 12 cases with primary driver mutations (−146 bp, −139/−138 bp, or −124 bp) and atypical mutations. Reads were split by mutation status at the key TERTp driver position, considering only reads covering all the relevant positions. The total number of driver mutant and wild-type reads are indicated by the height of the positive and negative axes, respectively. Mutations in cis with (i.e. in the same read as) the mutant allele or the reference allele are shown on the positive and negative axes, respectively. TMB, tumour mutation burden; SNV, single nucleotide variant; DNV, double nucleotide variant. Source data are provided as a Source Data file.