Table A5.
Predicted functions (TFBS and miRs).
| PG17 (all SNPs) | PG26 (all SNPs) | PG17 (all ins) | PG26 (all ins) | PG17 (all del) | PG26 (all del) | |
|---|---|---|---|---|---|---|
| miRNA | ||||||
| Total number of variants creating miRNA binding sites | 5,965 | 6,150 | 208 | 241 | 265 | 298 |
| Total number of variants destroying miRNA binding sites | 6,007 | 6,267 | 298 | 320 | 197 | 192 |
| Total number of variants perturbing miRNA binding sites (diff deltaG > 0) | 13,190 | 13,655 | 880 | 938 | 808 | 877 |
| TFB | ||||||
| Total number of TFBS disrupting variants | 587,761 | 638,857 | 28,896 | 33,234 | 50,997 | 58,709 |
| Total number of major TFBS disrupting variants (dScore < −7) | 4,037 | 4,619 | 7,560 | 9,005 | 30,123 | 35,117 |
| Total number of TFBS deleting variants: | 52 | 62 | 0 | 0 | 416 | 524 |
| SPLICE | ||||||
| Total number of splice site variants | 3,385 | 4,284 | 306 | 352 | 269 | 308 |
| Total number of “splicing change” variants | 23 | 28 | 85 | 104 | 102 | 129 |
| Total number of variants creating exonic splicing enhancer binding sites | 6,628 | 7,240 | 39 | 66 | 189 | 200 |
| SITES | ||||||
| Total number of variants destroying exonic splicing enhancer binding sites | 6,646 | 7,300 | 50 | 65 | 193 | 211 |
| Total number of variants creating exonic splicing silencer binding sites | 3,738 | 4,038 | 38 | 43 | 176 | 179 |
| Total number of variants destroying exonic splicing silencer binding sites | 3,607 | 3,982 | 14 | 23 | 158 | 153 |
The functional annotation was done with the complementary genome-wide variant annotation tools embedded in a suite of tools developed by researchers at The Scripps Research Institute (see reference Torkamani et al., 2011).