Table 2 Validated somatic mutations.
From: Recurrent CDC25C mutations drive malignant transformation in FPD/AML
Gene symbol | Ref seq_no. | Amino-acid change | Position (hg19) | Base change | Mutation type | SIFT prediction | VAF at MDS/MF (%) | VAF at AML (%) |
---|---|---|---|---|---|---|---|---|
Subject 20 | ||||||||
 AGAP4 | NM_133446 | p.Arg484Cys | g.chr10:46321905 | C->T | Missense | Damaging | 13.2 | 11.5 |
 CDC25C | NM_001790 | p.Asp234Gly | g.chr5:137627720 | A->G | Missense | Damaging | 31.7 | 45.8 |
 CHEK2 | NM_007194 | p.Arg406His | g.chr22:29091740 | G->A | Missense | Tolerated | 14.6 | 11.1 |
 COL9A1 | NM_001851 | p.Gly878Val | g.chr6:70926733 | G->T | Missense | Damaging | 9.6 | 26.4 |
 DTX2 | NM_001102594 | p.Pro74Arg | g.chr7:76110047 | C->G | Missense | Damaging | 18.3 | 11.2 |
 FAM22G | NM_001170741 | p.Ser508Thr | g.chr9:99700727 | T->A | Missense | Tolerated | 10.2 | 27.6 |
 GATA2 | NM_001145661 | p.Leu321His | g.chr3:128202758 | T->A | Missense | Damaging | 0.0 | 28.1 |
 LPP | NM_001167671 | p.Val538Met | g.chr3:188590453 | G->A | Missense | Damaging | 9.7 | 28.8 |
 RP1L1 | NM_178857 | p.Ser215fs | g.chr8:10480295 | insC | Frameshift | Damaging | 14.2 | 12.7 |
 SIGLEC9 | NM_014441 | p.Ser437Gly | g.chr19:51633253 | A->G | Missense | Tolerated | 27.4 | 42.5 |
Subject 21 | ||||||||
 ANXA8L1 | NM_001098845 | p.Val281Ala | g.chr10:48268018 | T->C | Missense | Damaging | 30.8 | 36.8 |
 CDC25C | NM_001790 | p.Asp234Gly | g.chr5:137627720 | A->G | Missense | Damaging | 31.1 | 39.1 |
 DENND5A | NM_001243254 | p.Arg320Ser | g.chr11:9215218 | A->C | Missense | Damaging | 29.5 | 37.3 |
 FER | NM_005246 | p.Tyr634Cys | g.chr5:108382876 | A->G | Missense | Damaging | 1.4 | 30.4 |
 FNDC1 | NM_032532 | p.Arg189Cys | g.chr6:159636081 | C->T | Missense | Damaging | 29.3 | 35.9 |
 OR8U1 | NM_001005204 | p.Asn175Ile | g.chr11:56143623 | A->T | Missense | Damaging | 30.0 | 34.1 |
 PIDD | NM_145886 | p.Arg342Cys | g.chr11:802347 | C->T | Missense | Damaging | 3.3 | 28.3 |
 ZNF614 | NM_025040 | p.Glu202Gly | g.chr19:52520246 | A->G | Missense | Damaging | 28.7 | 33.7 |