Table 1.
Somatic mutations identified by exome sequencing and ddPCR
| Position | Gene symbol |
Ref/Mut | Substitution | p_value | # Mut Reads |
SIFT Prediction |
Allele Frequency |
|||
|---|---|---|---|---|---|---|---|---|---|---|
| Exome sequencing |
ddPCR |
|||||||||
| Leukemic | Remission | Leukemic | Remission | |||||||
| chr11:102592188 | MMP8 | C/T | G189D | 2.47E-06 | 18 | damaging | 14.40% | 0.00% | 14.50% | 0% |
| chr15:75684939 | SIN3A | G/T | S832* | 4.33E-02 | 5 | nonsense | 3.47% | 0.00% | 0% | 0% |
| chr18:52899759 | TCF4 | T/G | I544L | 4.60E-03 | 9 | tolerated | 4.46% | 0.00% | 0% | 0% |
| chr5:140230206 | PCDHA9 | G/T | S709I | 2.87E-02 | 4 | damaging | 4.76% | 0.00% | 0% | 0% |
| chr1:38022574 | DNALI1 | G/T | W15C | 4.50E-02 | 4 | tolerated | 4.35% | 0.00% | 0% | 0% |
| chr11:60638721 | ZP1 | G/T | W349L | 4.06E-02 | 4 | damaging | 4.60% | 0.00% | 0% | 0% |
| chr19:48305564 | TPRX1 | T/A | N235I | 1.79E-03 | 8 | tolerated | 7.69% | 0.00% | N/A | N/A |
| chr15:28456220 | HERC2 | G/A | L2333F | 5.05E-02 | 5 | tolerated | 4.50% | 0.00% | 50% | 50% |
| chr20:44579096 | ZNF335 | G/T | Q887K | 5.37E-02 | 3 | tolerated | 3.45% | 0.00% | 0% | 0% |
| chr3:146246571 | PLSCR1 | G/T | P48T | 4.47E-02 | 4 | tolerated | 7.14% | 0.00% | 0% | 0% |
| chr3:42730118 | KBTBD5 | G/T | E444* | 5.30E-02 | 3 | nonsense | 4.55% | 0.00% | 0% | 0% |
| chr9:130550569 | CDK9 | T/C | L170P | 5.23E-02 | 4 | damaging | 7.84% | 0.00% | 0% | 0% |