Table 2.
Somatic point mutations.
| Reference genome coordinates | Gene | Predicted protein alteration | Mutation allele frequency | Mutation expressed | Reference allele expressed (base coverage) |
|---|---|---|---|---|---|
| chr22: 42390734delG | SEPT03 | NP_061979.3:p.Glu343fs | 13.8 | no | Yes (35) |
| chrX: 103294635C>T | H2BFM | NP_001157888.1:p.Thr31Met | 6.7 | no | No (0) |
| chr3: 147113718insA | ZIC4 |
NP_115529.2:p.Phe204fs NP_001161850.1:p.Phe254fs NP_001161851.1:p.Phe242fs |
7.4 | no | Yes (55) |
| chr1: 149859313G>T | HIST2H2AB | NP_778235.1:p.Leu52Met | 9 | no | No (0) |
| chr19: 58102066A>T | ZIK1 | NP_001010879.2:p.Glu296Val | 14.6 | no | Yes (11) |
| chr21: 31965069A>C | KRTAP6-3 | NP_853636.3:p.Tyr102Ser | 17 | no | No (0) |
| chr9: 21409401G>A | IFNA8 | NP_002161.2:p.Ala76Thr | 5.7 | no | No (0) |
NCBI accession nomenclature is used for proteins.