Table 2. Recurrent mutations in JAK–STAT and PLCG1.
| Gene | ID | Consequence | Amino-acid change | Chr | Position | Ref | Alt | Somatic acquisition confirmed* |
|---|---|---|---|---|---|---|---|---|
| JAK1 | SS87 | Missense | p.Y654F | 1 | 65,312,358 | T | A | Yes |
| SS29 | Missense | p.L710V | 1 | 65,310,560 | G | C | Yes | |
| JAK3 | SS33 | Missense | p.S989I | 19 | 17,942,049 | C | A | Yes |
| SS47 | Missense | p.Y1023H | 19 | 17,941,341 | A | G | Yes | |
| STAT3 | SS29 | Missense | p.I498V | 17 | 40,476,837 | T | C | Yes |
| SS37 | Missense | p.Y640F | 17 | 40,474,482 | T | A | Yes | |
| STAT5B | SS55 | Missense | p.N642H | 17 | 40,359,729 | T | G | Yes |
| SS86 | Missense | p.N642H | 17 | 40,359,729 | T | G | Yes | |
| PLCG1 | SS26 | Missense | p.S345F | 20 | 39,792,584 | C | T | Yes |
| SS31 | Missense | p.S345F | 20 | 39,792,584 | C | T | Yes | |
| SS84 | Missense | p.S520F | 20 | 39,794,139 | C | T | Yes | |
| SSG01 | Missense | p.R1158H | 20 | 39,802,370 | G | A | Yes | |
| SS86 | Deletion | p.VYEEDM1161V | 20 | 39,802,378 | GTGTATGAGGAAGACA | G | Yes | |
| SS9 | Missense | p.E1163K | 20 | 39,802,384 | G | A | Yes |
*NGS and/or Sanger conformation of somatic status in cases where normal tissue was available.