Fig. 5

The profiling of mtDNA variants in ESCC. a The correlation between the number of mtDNA variants and coverage in normal and tumor samples, with the summary boxplot in the margin. The relation coefficients and p values were calculated by the Pearson test. b The circos plot of the population frequency of the 24,347 distinct mtDNA variants detected in the 1326 samples. From the outside: (1) the position of the mtDNA; (2) the regions of mtDNA; (3) the frequency of all, germline, loss, and somatic mtDNA variants; and (4) the frequency of somatic mtDNA variants in the MITOMAP database. c The correlation between the max VAF of truncating mutations with mtCN in tumor and normal samples, with the summary boxplot showing in the margin. The relation coefficients and p values were calculated by the Pearson test. d Plots of overall survival for patients with mean VAF of truncating mutations of tumor sample above and below the median value. The colored areas indicate the 95% confidence intervals, with the risk table under the survival plot. p value was measured by log-rank test. e The proportion of six mutational types under different VAFs, with the mean number per type shown on the right. f Five mutation signatures extracted from the somatic mtDNA variants. g The cosine similarity between the five signatures in our cohort with COSMIC single base substitution signatures. h The correlation between the number of truncating mutations with the contribution of the five mutation signatures. The relation coefficients and p values were calculated by the Pearson test