Figure 2.

Classification of mixed positions that were observed in the mitochondrial genome (mitogenome) haplotypes from the SweGen whole-genome sequencing data. Mixed positions (white) were identified during initial variant detection using a 5% minimum minor nucleotide (light gray). These 833 mixed positions were detected with a 5% minor nucleotide frequency threshold and classified as either nuclear mtDNA segment (NUMT) variants or point heteroplasmies (PHPs) during multiple assessments (gray gradient). The 413 NUMT variants are shown in the inner plot (orange; scale 0–60 observations) and the 420 PHPs are displayed in the outer plot (green; scale 0–35 observations).