Table 3.
Detailed whole-exome sequencing data for indels detected in the four family members
| Type | Father | Mother | Son-case | Son-control |
|---|---|---|---|---|
| Total number of indels from each member | 7174 | 7073 | 7024 | 7352 |
| Frameshift | 308 | 309 | 289 | 260 |
| CDS-indel | 184 | 175 | 183 | 212 |
| Splice site | 410 | 387 | 380 | 421 |
| 5′-UTR | 664 | 631 | 642 | 637 |
| 3′-UTR | 256 | 228 | 247 | 264 |
| Intron | 5233 | 5221 | 5149 | 5440 |
| Promoter | 35 | 38 | 33 | 35 |
| Intergenic | 84 | 84 | 101 | 83 |
| Homozygous | 2761 | 2570 | 2863 | 3275 |
| Heterozygous | 4413 | 4503 | 4161 | 4077 |
| Total insertions | 3223 | 3218 | 3220 | 3542 |
| Total deletions | 3951 | 3855 | 3804 | 3810 |
| Insertion-coding | 208 | 217 | 206 | 229 |
| Deletion-coding | 284 | 267 | 266 | 243 |
| Total number of indels from all members | 11,502 |