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Table 2 Twelve candidate mutations in family 242, and in-silico functional prediction

From: Exome sequencing in one family with gastric- and rectal cancer

Gene

dbSNP

1000G

98 CRC cases

249 patients

F1

F2

F3

F4

F5

DZIP1L

    

C

T

D

N

N

PCOLCE2

rs147612568

0.0014

  

C

D

D

D

D

IGSF10

rs143721392

   

C

D

D

D

N

SUCNR1

    

C

D

D

D

N

OR13C8

    

C

T

B

N

-

EPB41L4B

   

0.002

Non-frameshift deletion

SEC16A

rs148167113

0.01

0.0153

0.004

-

-

-

-

-

NOTCH1

rs61751543

0.01

0.0204

0.01

C

T

D

D

D

TAS2R7

rs139604652

0.0032

0.0051

 

C

D

D

N

N

SF3A1

    

C

T

P

D

D

GAL3ST1

rs139452633

0.0005

 

0.004

C

D

D

D

D

TRIOBP

rs143157673

0.0018

  

N

-

P

-

-

  1. F1, Phylop; C, Conserved; N, Not conserved
  2. F2, SIFT; T, Tolerated; D, Deleterious
  3. F3, Polyphen2; D, Probably damaging; P, Possibly damaging; B, Benign
  4. F4, LRT; N, Neutral; D, Deleterious
  5. F5, MutationTaster; N, Polymorphism; D, Disease causing