Table 2.
Details of the Filtered Candidate Mutations
| Chromosome Coordinate | Base | DFNY1_101 Pileup |
DFNY1_66 Pileup |
Confirmation |
|||
|---|---|---|---|---|---|---|---|
| Coverage | Calls1 | Coverage | Calls1 | Cell-Line DNA | Blood DNA | ||
| First Class | |||||||
| chrY:3,957,219 | G | 7 | AAaaAAA | 10 | GGgGGGGgGG | Yes | No |
| chrY:4,633,474 | C | 4 | tttT | 6 | cCCccc | Yes, het | No |
| chrY:4,939,256 | T | 13 | cCccCcccCCCCC | 13 | TTTTTTTTTTttT | Yes | No |
| chrY:4,980,623 | T | 5 | ggggg | 7 | TtTTTTT | Yes, het | No |
| chrY:5,355,809∗ | C | 12 | TtTTTTTTTtTt | 9 | cCccccCcC | Yes | Yes |
| chrY:6,555,594 | G | 13 | TgTttTTtTTtTT | 12 | GGGGGgGGgGGG | No | |
| chrY:7,381,330 | G | 7 | cCcCCCc | 12 | GGGGGgGGgGGG | No | |
| chrY:12,063,011 | C | 5 | gggGG | 8 | ccccCCCC | Yes | No |
| chrY:14,745,277∗ | A | 9 | TtTTtTttt | 6 | aaAaAa | Yes | Yes |
| chrY:15,126,873 | T | 7 | cccCccc | 8 | tttTttTT | Yes | No |
| chrY:15,146,905∗ | T | 4 | CCcC | 9 | tTtTTTTtT | Yes | Yes |
| chrY:20,627,064 | C | 9 | gGGgGGGG. | 5 | Ccccc | Yes | No |
| chrY:27,095,961 | T | 7 | CCcCCCc | 8 | TTtttTTt | Yes | No |
| chrY:2,971,542∗ | A | 4 | aAAA | 14 | tTTtTTtttTtttT | Yes | Yes |
| chrY:4,097,585 | C | 7 | CCcaacc | 2 | aa | No | |
| chrY:4,876,956 | T | 11 | aatTTTTTTTT | 4 | AAAA | No | |
| chrY:11,970,133 | T | 10 | tttTTTTTTt | 6 | aaAAaa | No | |
| chrY:19,883,785 | A | 5 | aAaaA | 4 | cccc | No | |
| Second Class | |||||||
| chrY:13,445,456 | G | 4 | GGGg | 1 | t | No | |
| chrY:13,568,272 | G | 13 | aAAgggggggggg | 11 | aaaAaAaaAAa | No | |
| chrY:13,833,351 | C | 17 | cCccCCggccCcCcccc | 16 | CCcCcCCcCttCtttc | No | |
| chrY:14,573,532 | A | 21 | GAAAAaaAaAAaAaaAAaAAg | 5 | AAggg | No | |
| chrY:15,375,202 | G | 4 | GGGg | 4 | TTTT | No | |
An asterisk denotes mutations that were confirmed in blood DNA.
1
Upper case = forward strand; lower case = reverse strand.