Extended Data Fig. 1: Tumor cohort, summary of mutation calling and genomic landscape.

(a) (left) Barplots give a breakdown of the tumors sequenced by WGS (n = 247) and MSK-IMPACT panel (n = 223) according to sample types and disease subtypes. (Middle) Barplot gives a breakdown of 94 patients with > =2 tumors according to the availability of WGS and/or MSK-IMPACT data. (Right) Panel lists the number of patients included in the evolutionary analyses. For n = 247 WGS tumors, barplots show (b) the number of SNVs, indels and SVs and (c) the prevalence of segmental CNAs and genes affected by mutations and SVs. Only genes affected in > =2 patients are shown. Bottom barplot gives a summary of the mutation types for each CNA/gene. CNA, copy-number aberration. Complex, small complex insertion/deletion. Del, small deletion. Ins, small insertion. SNV, single-nucleotide variant. SV, structural variant. (d) Survival plot shows the clinical outcome of MYCN-A patients (n = 68) with TERTp substitutions, TERT-SV or no TERT events with 95% confidence intervals shown as the shaded area. P-value from a multivariate analysis taking into account age at diagnosis is shown (coxph function in R). (e) Heatmap gives a summary of co-mutation patterns in the current cohort (n = 470 tumors) with the frequency of events in the upper triangle and odds ratios in the lower triangle, respectively. Only odds ratios with p-values <0.05 are colored in shades of blue for co-mutation or red for mutually exclusive interactions. Significant interactions after multiple testing correction are indicated with a star or a dot according to the significance level of different correction metrics: FDR, false discovery rate. FWER, family-wise error rate. The data and script for the figure are available in Supplementary Tables 1, 2 and the GitHub repository.