Table 2.
Sequence variants affecting genes expressed in immune cells with predicted HIGH effect on protein coding regions.
| Gene | Chr | Pos | Ref | Alt | qual | type | Hom alt | Het | Hom ref |
|---|---|---|---|---|---|---|---|---|---|
| TAPBPL | 1 | 76880284 | G | T | 999 | Splicing | 0 | 9 | 10 |
| HHLA2 | 1 | 87500359 | CAGAG | CAGAGAAGAG | 197 | INDEL frameshift | 0 | 1 | 18 |
| IL18RAP | 1 | 1.34E+08 | TTTTTTTTTTTTTTG | T | 426 | INDEL frameshift | 0 | 9 | 10 |
| IL8L1 | 4 | 51270553 | T | A | 458 | Exonic | 0 | 2 | 17 |
| TNFSF10 | 9 | 19373730 | CCTCTC | CCTC | 153 | INDEL frameshift | 0 | 9 | 10 |
| TNFRSF10B | 22 | 1281321 | C | T | 214 | Stop gain | 0 | 1 | 18 |
| IL12B | 13 | 8133187 | G | A | 999 | Exonic | 0 | 5 | 14 |
| IRF1 | 13 | 16983217 | GATCCTGTGCTGTGCT | G,GGTGCTGTGCT | 960 | INDEL frameshift | 0 | 2 | 9 |
| HMHA1 | 28 | 2956121 | C | CCA | 201 | INDEL frameshift | 0 | 2 | 16 |
| CD69 | 1 | 5876 | CCAGACAGA | CCAGA | 115 | INDEL frameshift | 0 | 3 | 16 |
| CD69 | 1 | 5915 | GC | G | 41 | INDEL frameshift | 0 | 3 | 16 |
| TGFB1 | 32 | 27061 | CTGGGG | C | 416 | INDEL | 0 | 2 | 17 |
| TGFB1 | 32 | 28627 | CT | C | 77 | INDEL frameshift | 0 | 7 | 8 |
| TGFB1 | 32 | 28810 | CAGCAG | C,CCAG | 999 | INDEL frameshift | 0 | 14 | 1 |