Fig. 6: Chromothripsis on a haplotype level.

a An example of a phased block (chr5: 31,109–3,778,093) on which SVs have been found concentrated in case S20. Each color represents the haplotype of the reads supporting SVs. b An example of chromothripsis events in chromosome 5 as identified in case S20. The cluster of interleaved SVs is presented in the upper panel, whereas the CN patterns are presented in the lower panel. c Genome-wide information on the SNV and SV density of case S20. In the upper panel, the mutational patterns of the SNVs are represented in different colors and the potential kataegis is highlighted with arrows. Breakpoints for the SVs are shown for each respective color in the lower panel. d The number of SNVs corresponding to each haplotype in the phased block (chr5: 31,109–3,778,093). e Methylation status at the phase block located within the chromothripsis region of case S20. Normal and tumor panels demonstrate methylation frequencies calculated with reads assigned to each haplotype. The SV panel presents the frequencies calculated with SV-supporting reads detected by Nanomonsv. f Gene expressions for haplotypes at the phase block (chr5: 31,109–3,778,093) of case S20. Read ratios of HP1 and HP2 in normal and tumor tissues are shown with separate colors. Source data are provided as a Source Data file for d.