Table 3.
Variant | # Cells | IsInBulk | mAF | mAF_Bulk |
---|---|---|---|---|
m.73A > G | 43 | 1 | 1.00 | 1.00 |
m.150C > T | 44 | 1 | 1.00 | 1.00 |
m.199T > C | 45 | 1 | 1.00 | 1.00 |
m.263A > G | 44 | 1 | 1.00 | 1.00 |
m.489T > C | 47 | 1 | 1.00 | 0.06 |
m.750A > G | 47 | 1 | 1.00 | 1.00 |
m.1438A > G | 44 | 1 | 1.00 | 1.00 |
m.2706A > G | 46 | 1 | 1.00 | 1.00 |
m.3572T > C * | 9 | 0 | 0.04 | 1.00 |
m.4048G > A | 43 | 1 | 1.00 | 0.01 |
m.4071C > T | 40 | 1 | 1.00 | 1.00 |
m.4164A > G | 34 | 1 | 1.00 | 1.00 |
m.4769A > G | 1 | 1 | 1.00 | 1.00 |
m.5351A > G | 28 | 1 | 0.99 | 1.00 |
m.5460G > A | 47 | 1 | 0.99 | 1.00 |
m.6455C > T | 47 | 1 | 1.00 | 1.00 |
m.6680T > C | 43 | 1 | 1.00 | 1.00 |
m.7028C > T | 38 | 1 | 1.00 | 1.00 |
m.7684T > C | 42 | 1 | 1.00 | 1.00 |
m.7853G > A | 46 | 1 | 1.00 | 1.00 |
m.8552T > C | 43 | 1 | 1.00 | 1.00 |
m.8563A > C * | 1 | 0 | 0.08 | 1.00 |
m.8684C > T * | 1 | 0 | 0.18 | 1.00 |
m.8701A > G | 40 | 1 | 1.00 | 1.00 |
m.8860A > G | 1 | 1 | 1.00 | 1.00 |
m.9540T > C | 47 | 1 | 1.00 | 1.00 |
m.9627G > A | 46 | 1 | 0.18 | 0.02 |
m.9824T > C | 47 | 1 | 1.00 | 0.99 |
m.10345T > C | 47 | 1 | 1.00 | 1.00 |
m.10398A > G | 45 | 1 | 1.00 | 1.00 |
m.10400C > T | 45 | 1 | 1.00 | 0.99 |
m.10873T > C | 44 | 1 | 1.00 | 1.00 |
m.11284C > T | 36 | 1 | 0.08 | 0.99 |
m.11719G > A | 44 | 1 | 0.98 | 1.00 |
m.12405C > T | 47 | 1 | 1.00 | 1.00 |
m.12705C > T | 44 | 1 | 1.00 | 1.00 |
m.12811T > C | 47 | 1 | 1.00 | 1.00 |
m.12906C > T * | 1 | 0 | 0.20 | 1.00 |
m.13239C > T * | 1 | 0 | 0.07 | 1.00 |
m.14766C > T | 39 | 1 | 1.00 | 1.00 |
m.14783T > C | 42 | 1 | 1.00 | 1.00 |
m.15043G > A | 47 | 1 | 1.00 | 1.00 |
m.15301G > A | 46 | 1 | 1.00 | 1.00 |
m.15326A > G | 47 | 1 | 1.00 | 0.01 |
m.16129G > A | 46 | 1 | 0.99 | 1.00 |
m.16189T > C | 39 | 1 | 1.00 | 0.99 |
m.16223C > T | 46 | 1 | 1.00 | 1.00 |
m.16297T > C | 47 | 1 | 1.00 | 0.17 |
m.16298T > C | 47 | 1 | 1.00 | 1.00 |
Variant: type and genomic location of each variant in the format m.[POS][REF] > [ALT] (m: chrM; POS: genomic position; REF: reference base; ALT: alternative base); # Cells: number of cells in which the variant is detected; IsInBulk: a flag indicating if a variant is detected (1) or not detected (0) in the bulk; mAF: mean allele frequency; mAF_Bulk: allele frequency in the bulk (reported also for sites supported by less than 30 reads). * indicates variants apparently not supported by the bulk because covered by less than 30 reads.