Table 1.
Allele frequencies at heteroplasmic sites in Family F4.
| Family F4 | |||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Tissue | Site | Ref | M5G (grandmother) | M9 (daughter of M5G) | M4 (daughter of M5G) | M4-C1 (child of M4) | M4-C3 (child of M4) | ||||||||||||||||||||
| A | C | G | T | cvrg | A | C | G | T | cvrg | A | C | G | T | cvrg | A | C | G | T | cvrg | A | C | G | T | cvrg | |||
| blood | 5063 | T | 0.000 | 0.001 | 0.000 | 0.998 | 81,207 | 0.000 | 0.001 | 0.000 | 0.999 | 21,069 | 0.000 | 0.016 | 0.000 | 0.984 | 12,376 | 0.000 | 0.001 | 0.000 | 0.999 | 5,228 | 0.000 | 0.001 | 0.000 | 0.999 | 50,019 |
| 7028 | T | 0.002 | 0.975 | 0.001 | 0.021 | 5,739 | 0.001 | 0.966 | 0.001 | 0.032 | 1,671 | 0.000 | 0.975 | 0.000 | 0.025 | 5,102 | no data | 0.002 | 0.910 | 0.000 | 0.088 | 4,036 | |||||
| 8992 | C | 0.000 | 0.652 | 0.000 | 0.347 | 52,519 | 0.000 | 0.659 | 0.000 | 0.341 | 15,597 | 0.000 | 0.672 | 0.000 | 0.327 | 14,174 | 0.000 | 0.526 | 0.000 | 0.474 | 4,585 | 0.000 | 0.670 | 0.000 | 0.330 | 35,005 | |
| A | C | T | G | cvrg | A | C | T | G | cvrg | A | C | T | G | cvrg | A | C | T | G | cvrg | A | C | T | G | cvrg | |||
| cheek | 5063 | T | 0.000 | 0.001 | 0.000 | 0.999 | 59,896 | 0.000 | 0.001 | 0.000 | 0.999 | 20,635 | 0.000 | 0.020 | 0.000 | 0.980 | 2,294 | 0.000 | 0.002 | 0.000 | 0.998 | 2,073 | 0.000 | 0.001 | 0.000 | 0.998 | 29,013 |
| 7028 | T | 0.001 | 0.982 | 0.001 | 0.015 | 3,905 | 0.001 | 0.965 | 0.001 | 0.033 | 1,526 | no data | no data | 0.001 | 0.965 | 0.000 | 0.034 | 2,071 | |||||||||
| 8992 | C | 0.000 | 0.545 | 0.000 | 0.454 | 38,968 | 0.000 | 0.639 | 0.000 | 0.360 | 14,624 | 0.000 | 0.686 | 0.000 | 0.314 | 1,931 | 0.001 | 0.578 | 0.000 | 0.421 | 1,433 | 0.000 | 0.669 | 0.000 | 0.330 | 19,214 | |
The frequencies were calculated by dividing the number of reads supporting a given allele by the quality adjusted coverage listed in "coverage" column. Quality adjusted coverage = number of reads where the base aligning over a given position has a phred score equal or higher than 30.