Fig. 1: SSVs detected across diverse pediatric brain tumor types from the CBTTC.

a By brain tumor type, box plot of numbers of SSVs detected for each CBTTC tumor sample, representing 854 tumors and 759 patients in total. Box plot represents 5% (lower whisker), 25% (lower box), 50% (median), 75% (upper box), and 95% (upper whisker). See Methods regarding histology-based tumor type abbreviations. b Association of CNAs with genomic rearrangement. Based on the set of all SSV-gene associations involving an SSV breakpoint falling within 1 Mb of gene start site for a given tumor (taken from all gene X tumor sample pairings), Venn diagrams represent significant enrichment of these SSV-gene associations both for high-level gene amplification events (left) and for deep gene deletion events (right). For each of the overlapping results sets, lists provide the most frequently affected genes and associated cytoband regions. P values by chi-squared test. c Evidence of inter-tumoral heterogeneity within patients, by SSV breakpoint patterns surveyed across multiple tumors from the same patient. Tumor status color bar denotes initial tumor, progressive, recurrence, or second malignancy. Based on a set of 36 cancer-associated genes (defined using the literature^20,21), somatic events are represented across 139 tumors from 60 patients for which CBTTC profiled multiple tumors (the 139 tumors involve at least one gene with breakpoint association). Black or gray represents SSV breakpoint in proximity to the gene (within the gene body or 100 kb of the gene, respectively). Green or gold represent somatic SNV/indel (respectively, either missense SNV within hotspot residue⁴⁹ or inactivating mutation by indel/nonsense/nonstop). Red or blue represents high-level amplification or deep deletion, respectively. As tabulated on the right, concordant events are somatic events detected in all tumors from the same patient; discordant events are detected in only some but not all tumors from the same patient. Tumor type color scheme is from part a.