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Table 1 Coding and noncoding somatic mutations found at FGFR1 locus in 21 primary-relapse pairs NB tumors analyzed by whole genome sequencing

From: FGFR1 is a potential therapeutic target in neuroblastoma

Sample ID

Type

Position/change

Location

Gene

Amino acid change

Band

CADD score

COSMIC ID

SNP ID

ENCODE annotation

TR008

R

chr8:38227325:G>T

Intronic

WHSC1L1

–

8p11.23

2.48

–

–

Enhancerb

TR008

R

chr8:38236248:C>G

Intronic

WHSC1L1

–

8p11.23

1.78

–

–

–

TR008

P

chr8:38246999:C>G

Intronic

LETM2

–

8p11.23

1.77

–

–

–

TR008

R

chr8:38246999:C>G

Intronic

LETM2

–

8p11.23

1.77

–

–

–

TR001

P

chr8:38267939:A>C

Downstream

FGFR1, LETM2

–

8p11.23

1.03

–

–

TFP(CTCF)

SP_2_T

P

chr8:38268616:C>A

Downstream

FGFR1

–

8p11.23

3.58

–

–

TFP(CTCF)

TR003

R

chr8:38273003:A>T

Intronic

FGFR1

–

8p11.23

2.25

–

–

–

PATNKP

P

chr8:38274849:G>T

Exonic

FGFR1

N457K

8p11.23

29.70

Yesa

rs779707422

–

PATNKP

R

chr8:38274849:G>T

Exonic

FGFR1

N457K

8p11.23

29.70

Yesa

rs779707422

–

TR007

P

chr8:38282676:A>T

Intronic

FGFR1

–

8p11.23

2.96

–

–

DHS(MCV-1)

TR001

P

chr8:38288403:G>C

Intronic

FGFR1

–

8p11.23

0.22

–

–

DHS(MCV-2); TFP(SMARCC1)

TR008

P

chr8:38295809:T>C

Intronic

FGFR1

–

8p11.23

0.23

–

rs975858205

–

PAUDDK

P

chr8:38296890:T> A

Intronic

FGFR1

–

8p11.23

17.63

–

–

–

TR003

P

chr8:38301604:T>G

Intronic

FGFR1

–

8p11.22

2.88

–

rs947373873

–

PATNKP

P

chr8:38311785:C>G

Intronic

FGFR1

–

8p11.22

2.90

–

–

 

PATNKP

R

chr8:38311785:C>G

Intronic

FGFR1

–

8p11.22

2.90

–

–

–

TR008

R

chr8:38319864:G>A

Intronic

FGFR1

–

8p11.22

0.75

–

–

–

TR007

R

chr8:38324367:G>A

Intronic

FGFR1

–

8p11.22

9.06

–

–

Enhancerb; TFP(SIN3A, TAF7, TCF12, YY1)

TR008

P

chr8:38337889:A>G

Intergenic

FGFR1(dist=11537)

–

8p11.22

3.92

–

–

–

TR008

R

chr8:38338780:A>G

Intergenic

FGFR1(dist=12428)

–

8p11.22

18.68

–

–

DHS(MCV-2)

TR008

R

chr8:38338784:C>G

Intergenic

FGFR1(dist=12432)

–

8p11.22

17.75

–

rs201380585

DHS(MCV-2)

TR006

R

chr8:38349608:A>G

Intergenic

FGFR1(dist=23256)

–

8p11.22

0.61

–

–

–

TR006

R

chr8:38350422:C>G

Intergenic

FGFR1(dist=24070)

–

8p11.22

10.82

–

–

–

TR008

P

chr8:38350507:A>C

Intergenic

FGFR1(dist=24155)

–

8p11.22

0.03

–

–

–

TR006

P

chr8:38350642:T>C

Intergenic

FGFR1(dist=24290)

–

8p11.22

0.04

–

–

–

PATNKP

R

chr8:38357592:C>A

Intergenic

FGFR1(dist=31240)

–

8p11.22

4.03

–

–

–

TR006

R

chr8:38369276:A>C

UTR3

C8orf86

–

8p11.22

0.45

–

rs565928745

–

  1. P primary, R relapse, TFP transcription factor binding peak, DHS DNase I hypersensitive sites, MCV-1, MCV-2 cell lines of the ENCODE catalog
  2. aID = COSM3670398, COSM1284966, COSM1284968, COSM1284967, COSM19176; OCCURENCE = 5(central_nervous_system), 1(autonomic_ganglia)
  3. bSegway/ChromHMM-predicted enhancer
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Cancer Cell International

ISSN: 1475-2867

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