Table 1.
Summary of transmitted mega-NUMTs in eight families.
| Family ID | Junction1 (hg38) | Junction2 (hg38) | No. | Father | Proband | Sibling | Mother | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nuclear | mtDNA | Nuclear | mtDNA | DCRs | SPRs | DCRs | SPRs | DCRs | SPRs | |||
| Family 1 | chr17:76460877 | 1641(+) | chr17:76460893 | 13441(−) | 2 | 37 | 29 | 40 | 14 | NA | NA | None |
| Family 2 | chr13:103216861 | 63(+) | chr13:103216872 | 4555(−) | 3 | 15 | 3 | 34 | 6 | 17 | 10 | None |
| Family 3 | chr12:58832359 | 5523(+) | chr12:58832360 | 16109(+) | 2 | 26 | 14 | 26 | 11 | NA | NA | None |
| Family 4 | chr7:61095411 | 11198(+) | chr7:61095402 | 6793(−) | 5 | 9 | 10 | 8 | 4 | None | None | None |
| Family 5 | chr3:56128996 | 11126(+) | chr3:56128997 | 3128(−) | 6 | 23 | 15 | 26 | 12 | NA | NA | None |
| Family 6 | chr7:61095411 | 11198(+) | chr7:61095402 | 6793(−) | 5 | 10 | 3 | 8 | 4 | 18 | 1 | None |
| Family 7 | chr3:56128996 | 11126(+) | chr3:56128997 | 3128(−) | 6 | 32 | 7 | 26 | 16 | NA | NA | None |
| Family 8 | chr3:176531354 | 247(−) | chr3:176531398 | 16405(+) | 2 | 42 | 18 | 26 | 17 | NA | NA | None |
No. Number of individuals carrying the mega-NUMTs in the whole dataset, DCRs discordant reads, SPRs split reads, None not present, NA sample not available.