Fig. 1

Distribution of heteroplasmy in UK10K TwinsUK cohort. a Counts of individuals harboring a specific number of heteroplasmies (0–12 heteroplasmies at MAF > 2% cutoff). More than half of individuals (52.5%) carried at least one heteroplasmy in their genome. b Histogram for MAF of all heteroplasmies. 62.7% of heteroplasmies had MAF < 5% and 20.1% had MAF > 10%. c Normalized occurrence frequency distribution of heteroplasmies and homoplasmies. The frequency was normalized by the length of the mitochondrial loci. Dark gray, light blue and yellow bars indicate the genes in three different functional categories: rRNA, Protein coding and tRNA, respectively. The distribution of variants was relatively homogeneous among coding regions, except for some regions, such as higher frequency in ND5 (heteroplasmy) and tRNA Thr (heteroplasmy and homoplasmy)