Table 1 Somatic variants identified from whole exome sequencing

1

PTPRQ

GGGT

Deletion

Exonic

NM_001145026.1;

c.6452_6453 + 2delGGGT;

–

–

103

17.5

0.0

RB1

AC

Frameshift deletion

Exonic

p.K123fs*39

104

15.4

–

–

0.0

RB1

ATAC

Frameshift insertion

Exonic

p.P121fs*4

103

16.5

–

–

0.0

RB1

T

Frameshift deletion

Exonic

p.Y120fs*8

99

17.2

–

–

0.0

RB1

TTG

In-frame deletion

Exonic

p.A117_I118delinsV

99

17.2

–

–

0.0

RB1

A

Frameshift deletion

Exonic

p.L116fs*12

95

17.9

–

–

0.0

RB1

AATC

Frameshift deletion

Exonic

p.R114fs*13

98

17.4

–

–

0.0

SELE

C

T

SNV

Splice site

NM_000450.2;

c.902-1G>A

113

55.8

111

55.9

0.0

2

ADAM9

TTTT

Frameshift insertion

Exonic

NM_003816.2;

c.1883_1884insTTTT;

p.C629fs*3

43

18.6

–

–

0.0

APOB

G

A

Nonsynonymous SNV

Exonic

NM_000384.2;

c.10,579 C>T;

p.R3527W

278

45.0

247

40.9

0.0

DNAH5

T

Deletion

Splice site

NM_001369.2;

c.2578-2delA

–

–

17

17.7

0.0

NRAS

C

T

Nonsynonymous SNV

Exonic

NM_002524.4;

c.35G>A;

p.G12D

390

14.4

434

33.4

29.1

3

CEBPA

CTG

In-frame insertion

Exonic

NM_004364.4;

c.934_936dupCAG;

p.Q312dup

283

87.6

268

47.0

2.1

CFTR

G

A

Nonsynonymous SNV

Exonic

NM_000492.3;

c.1865G>A;

p.G622D

103

50.5

94

56.4

0.0

MUTYH

C

A

Stop gain SNV

Exonic

NM_012222.2

c.1435G>T;

p.E479*

152

47.4

126

48.4

0.0

4

ESRRB

C

T

Nonsynonymous SNV

Exonic

NM_004452.3;

c.1144 C>T;

p.R382C

202

49.5

236

48.7

0.0

FLT3

G

A

Nonsynonymous SNV

Exonic

NM_004119.2;

c.1577 C>T;

p.T526M

419

48.5

385

48.8

0.0

HBB

AAAG

Frameshift deletion

Exonic

NM_000518.4;

c.126_129delCTTT;

p.F42fs*19

241

50.2

263

39.5

0.0

LFNG

GATG

Frameshift insertion

Exonic

NM_001166355.1;

c.163_166dupGATG;

p.E56fs*2

104

50.0

116

35.3

0.0

MAP3K20

A

T

SNV

Splice site

c.416-2 A>T

–

–

66

15.2

0.0

MAP3K20

G

T

SNV

Splice site

c.416-1G>T

–

–

66

15.2

0.0

5

ESRRB

C

T

Nonsynonymous SNV

Exonic

NM_004452.3;

c.1144 C>T;

p.R382C

218

48.6

216

50.5

0.0

EYS

C

A

Stop gain SNV

Exonic

c.8170G>T;

p.E2724*

155

57.4

153

54.3

0.0

GUCY2D

C

T

Nonsynonymous SNV

Exonic

NM_000180.3;

c.164 C>T;

p.T55M

75

66.7

64

53.1

0.0

IDH2

C

T

Nonsynonymous SNV

Exonic

NM_001290114.1;

c.419G>A;

p.R140Q

124

38.7

115

26.1

42.9

NPM1

TCTG

Frameshift insertion

Exonic

NM_002520.6;

c.860_863dupTCTG;

p.W288fs

–

–

17

41.2

36.3

SLC12A1

C

A

Stop gain SNV

Exonic

c.1584 C>A;

p.Y528*

204

55.4

146

38.4

0.0

WRN

AGGG

Deletion

Splice site

NM_000553.5;

c.840-2_841delAGGG;

–

–

31

19.4

0.0

WRN

TTTT

Frameshift insertion

Exonic

NM_000553.5; c.844_845insTTTT;

p.S282fs*24

–

–

31

19.4

0.0

6

ATM

G

T

Nonsynonymous SNV

Splice site

NM_000051.3;

c.497-1G>T

–

–

18

33.3

0.0

ATRX

G

A

Stop gain SNV

Exonic

c.7219 C>T

p.R2407*

–

–

120

44.2

14.29

CEBPA

TTGGCCTT

Frameshift insertion

Exonic

NM_004364.4;

c.929_930insAAGGCCAA

p.Q346fs*10

303

42.9

349

49.6

0.0

CEBPA

CTCCA

Frameshift deletion

Exonic

NM_004364.4;

c.923_927delTGGAG;

p.V343fs*11

329

43.5

350

47.4

0.0

MPST

C

A

Stop gain SNV

Exonic

c.52G>T;

p.E18*

184

51.1

193

49.7

0.0

RYR2

C

T

Nonsynonymous SNV

Exonic

NM_001035.2;

c.13,739 C>T;

p.T4580M

–

–

29

51.7

0.0

TBXAS1

C

T

Stop gain SNV

Exonic

c.997 C>T;

p.R333*

148

41.2

150

52.0

0.0

VWF

G

A

Nonsynonymous SNV

Exonic

NM_000552.4;

c.4195 C>T;

p.R1399C

161

40.4

154

37.7

0.0