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Table 1 Segregation test of 34 variants in family 242

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

Chrom:Positiona

Ref

Alt

Gene

dbSNP

1000Gb

Co-441

Co-634

Co-666

Co-667

Co-771

Co-652

Co-692

Co-657

1:235577776

C

T

TBCE

rs62620041

0.0023

C/T

C/C

C/T

C/T

C/T

C/C

C/C

C/C

2:29295186

C

T

C2orf71

rs75276619

0.01

C/T

C/T

C/T

C/C

C/C

C/C

C/T

C/C

2:155555406

A

G

KCNJ3

rs16838016

0.0032

A/G

A/A

A/G

A/G

A/G

A/G

A/A

A/G

2:169870004

G

A

ABCB11

rs11568361

 

A/G

G/G

A/G

A/G

A/G

A/G

G/G

G/G

3:137786409

A

C

DZIP1L

  

A/C

A/C

A/C

A/C

A/C

A/C

A/A

A/C

3:142542415

C

T

PCOLCE2

rs147612568

0.0014

C/T

C/T

C/T

C/T

C/T

C/T

C/C

C/T

3:151171329

G

T

IGSF10

rs143721392

 

G/T

G/T

G/T

G/T

G/T

G/T

G/T

G/T

3:151598890

T

C

SUCNR1

  

C/T

C/T

C/T

C/T

C/T

C/T

C/T

C/T

4:13590380

A

G

BOD1L1

rs140964488

0.0009

A/G

A/G

A/G

A/A

A/G

A/A

A/G

A/A

4:22440018

C

G

GPR125

rs144997202

0.0005

C/G

C/G

C/G

C/C

C/G

C/G

C/G

C/C

4:25849449

G

A

SEL1L3

  

A/G

A/G

A/G

G/G

A/G

A/G

A/G

G/G

7:141765172

A

T

MGAM

  

A/T

A/T

A/T

A/A

A/T

A/A

A/A

A/A

9:107331452

G

A

OR13C8

  

A/G

A/G

A/G

A/G

A/G

G/G

G/G

G/G

9:111947836

GGA

-

EPB41L4B

  

GGA/-

GGA/-

GGA/-

GGA/-

GGA/-

GGA/GGA

GGA/GGA

GGA/GGA

9:139369066

G

A

SEC16A

rs148167113

0.01

A/G

A/G

A/G

A/G

A/G

A/G

A/G

A/G

9:139401233

C

T

NOTCH1

rs61751543

0.01

C/T

C/T

C/T

C/T

C/T

C/T

C/T

C/T

10:5931230

C

T

ANKRD16

rs3750659

0.06

C/T

C/T

C/T

C/C

C/T

C/C

C/C

C/C

11:130784886

T

C

SNX19

rs117260465

0.01

C/T

C/T

C/T

T/T

C/T

T/T

C/T

T/T

12:10954583

A

T

TAS2R7

rs139604652

0.0032

A/T

A/T

A/T

A/T

A/T

A/A

A/T

A/A

12:109617728

A

G

ACACB

rs16940029

0.08

A/G

A/A

A/G

A/A

A/G

A/A

A/G

A/G

16:14029033

G

A

ERCC4

rs1800067

0.03

A/G

G/G

A/G

A/G

A/G

G/G

G/G

A/G

16:15818842

A

G

MYH11

rs16967510

0.02

A/G

A/A

A/G

A/A

A/G

A/G

A/A

A/G

16:22826046

T

G

HS3ST2

rs189013090

0.01

G/T

T/T

G/T

G/T

G/T

T/T

T/T

G/T

17:62028920

C

G

SCN4A

rs41280102

0.01

C/G

C/C

C/G

C/C

C/G

G/G

C/G

C/G

18:67721492

G

C

RTTN

rs34717557

0.01

C/G

G/G

C/G

G/G

C/G

C/G

G/G

C/G

18:67836115

G

T

RTTN

rs34353615

0.01

G/T

G/G

G/T

G/G

G/T

G/T

G/G

G/T

18:72343156

A

G

ZNF407

rs75994611

0.01

A/G

A/A

A/G

A/A

A/G

A/G

A/A

A/G

19:3834863

C

T

ZFR2

rs61747120

0.04

C/T

C/C

C/T

C/C

C/T

C/T

C/T

C/T

22:30733787

C

T

SF3A1

  

C/T

C/T

C/T

C/T

C/T

C/T

C/T

C/C

22:30951208

C

T

GAL3ST1

rs139452633

0.0005

C/T

C/T

C/T

C/T

C/T

C/T

C/T

C/C

22:38111897

C

T

TRIOBP

rs143157673

0.0018

C/T

C/T

C/T

C/T

C/T

C/T

C/T

C/C

22:46653273

C

T

PKDREJ

rs147180698

 

C/T

C/C

C/T

C/C

C/T

C/T

C/T

C/C

X:107844666

G

T

COL4A5

rs34077552

0.01

G/T

G/G

G/T

G/T

T/T

G/T

G/T

G/T

X:119293216

-

G

RHOXF2

  

-/G

−/−

-/G

-/G

-/G

-/G

-/G

-/G

  1. List of 34 rare variants after filtering all non-exonic variants, synonymous variants, variants presenting in the 30 breast cancer cases [15], and variants with allele frequency in 1000Genomes more than 20 %
  2. aGRCh37 (hg19) coordinates
  3. b1000 Genomes version April 2012 (hg19)