Table 1 Somatic variants detected in rhabdomyosarcoma (RMS; primary tumor, sample #1) by whole exome sequencing

From: Aberrant CDK4 Amplification in Refractory Rhabdomyosarcoma as Identified by Genomic Profiling

No

Ch

position

gene name

ref

var

vac

tr

vrf

vac

tr

vrf

func. Impact

fi score

prediction

score

1

19

35524413

SCN1B

A

G

0

35

0.0%

11

21

52.4%

low

1.865

D

0

2

7

113519206

PPP1R3A

A

T

0

102

0.0%

66

142

46.5%

neutral

0

D

0.03

3

4

94411875

GRID2

C

A

0

61

0.0%

31

67

46.3%

  

D

0

4

15

29346353

APBA2

G

A

0

62

0.0%

23

53

43.4%

medium

2.28

D

0.02

5

2

219513493

ZNF142

C

T

0

24

0.0%

9

21

42.9%

low

0.875

T

0.3

6

1

53347155

ZYG11A

G

T

0

53

0.0%

18

43

41.9%

  

D

0

7

16

7568302

RBFOX1

C

A

0

74

0.0%

37

93

39.8%

medium

2.595

D

0

8

2

85533345

TCF7L1

G

A

0

23

0.0%

6

19

31.6%

medium

2.25

T

0.05

9

17

80445942

NARF

A

G

0

23

0.0%

8

28

28.6%

neutral

0.455

D

0.03

10

16

85698723

KIAA0182

T

A

0

24

0.0%

4

16

25.0%

low

1.32

D

0.01

11

X

107224952

TEX13B

G

A

0

47

0.0%

12

54

22.2%

low

1.5

T

0.06

12

11

1093375

MUC2

C

T

0

26

0.0%

4

18

22.2%

  

T

0.23

13

21

45877015

LRRC3

A

C

0

28

0.0%

4

20

20.0%

low

0.865

T

0.11

14

1

24663626

GRHL3

A

C

0

26

0.0%

4

22

18.2%

low

1.67

D

0

15

19

9005714

MUC16

A

C

2

58

3.4%

8

44

18.2%

medium

1.935

T

0.13

16

18

29178556

TTR

G

C

0

28

0.0%

4

23

17.4%

low

1.545

D

0

17

X

47069419

UBA1

G

C

0

41

0.0%

6

36

16.7%

medium

3.34

D

0

18

11

61563225

FEN1

T

G

0

29

0.0%

5

32

15.6%

medium

2.83

D

0

19

17

12896247

ELAC2

A

C

0

26

0.0%

4

26

15.4%

low

1.87

D

0

20

2

204045181

NBEAL1

A

C

0

72

0.0%

9

66

13.6%

high

4.49

D

0

21

11

117342607

DSCAML1

A

C

0

37

0.0%

5

37

13.5%

medium

2.93

D

0

22

5

140188268

PCDHA4

T

G

0

39

0.0%

5

37

13.5%

medium

2.905

D

0

23

1

145601821

POLR3C

G

C

0

39

0.0%

5

37

13.5%

low

1.39

D

0.04

  1. Ch, chromosome; ref, reference; var, variant; vac, variant allele count; tr, total read; vrf, variant read frequency; D, damaging; T, tolerated; SIFT, Sorting Tolerant From Intolerant (Nucleic Acids Res 2003;31:3812).
  2. Nos. 1, 2, 3, 4, 5, 6, 7, 8, 11 and 21: somatic mutations that were validated by Sanger sequencing (Table 2).
  3. No. not mentioned above: somatic mutations that were not validated by Sanger sequencing.