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

  1. AML, acute myeloid leukemia; MDS, myelodysplastic syndrome; MF, myelofibrosis; SIFT, sorting intolerant from tolerant; VAF, variant allele fraction.