Table 6. Indel summary.
CE1 | CE2 | JP (mean ± s.d.) | CM (mean ± s.d.) | HM1 | HM2 | |
Total number of indels | 13,890 | 17,417 | 17,482.8±475.4 | 6,693.7±334.3 | 773 | 697 |
Ins-coding | 698 | 910 | 1,072.4±40.3 | 427.6±17.6 | 93 | 84 |
Del-coding | 607 | 698 | 696.5±17.6 | 360.3±8.4 | 59 | 56 |
Splice site | 885 | 1,078 | 833.1±17.4 | 303.7±49.5 | 45 | 33 |
Intron | 10,813 | 13,615 | 13,771.6±398.6 | 5,079.8±267.4 | 518 | 465 |
5′ UTRs | 256 | 341 | 344.5±8.2 | 190.3±6.3 | 22 | 29 |
3′ UTRs | 579 | 709 | 701.4±8.3 | 280.9±14.8 | 30 | 25 |
Intergenic | 52 | 66 | 63.3±2.3 | 51.1±2.3 | 6 | 5 |
Total insertion | 7,460 | 9,589 | 11,127.4±321.8 | 3,673.7±177.5 | 437 | 395 |
Total deletion | 6,430 | 7,828 | 6355.4±155.8 | 3,020±177.6 | 336 | 302 |
Heterozygous indels | 378 | 536 | 295.0±19.3 | 452.4±60.2 | 280 | 240 |
Homozygous indels | 13,512 | 16,881 | 17,187.8±457.9 | 6,241.2±277.5 | 493 | 457 |
Each exome from 21 individuals was aligned to the human reference genome for indel identification.