Table 6.
Private variants of pedigree I called with SAMtools and GATK
|
| ||||||||||
| Individual | 200 | 201 | 202 | 203 | Case /control | |||||
| SAMtools | GATK | SAMtools | GATK | SAMtools | GATK | SAMtools | GATK | SAMtools | GATK | |
| Nonsynonymous SNV | 770 | 698 | 792 | 675 | 820 | 751 | 748 | 663 | 85 | 56 |
| Frame shift | 160 | 23 | 148 | 25 | 162 | 24 | 167 | 23 | 23 | 4 |
| Indel | 754 | 60 | 779 | 67 | 726 | 61 | 781 | 54 | 224 | 12 |
| Stopgain | 28 | 6 | 33 | 11 | 35 | 12 | 28 | 10 | 8 | 1 |
| Stoploss | 33 | 3 | 3 | 1 | 2 | 0 | 7 | 1 | 5 | 0 |
| 5´UTR | 669 | 84 | 712 | 98 | 603 | 92 | 647 | 88 | 156 | 21 |
| 3´UTR | 1001 | 177 | 1046 | 192 | 934 | 166 | 1015 | 195 | 322 | 35 |
| Exonic | 1718 | 794 | 1744 | 802 | 1712 | 854 | 1667 | 795 | 225 | 75 |
| Exonic, splicing | 94 | 10 | 96 | 9 | 93 | 10 | 89 | 13 | 14 | 2 |