Table 2

Point mutations identified in the cancer mini-exome of patients 1 to 4

Patient 1

Patient 2

Patient 3

Patient 4


Gene

TC

LM

TC

LM

TC

LM

TC

LM


APC

5:112175523 T/-

5:112175523 T/-

E1536* (5:1121758970)

E1536* (5:1121758970)

Y1376* (5:112175419)

Y1376* (5:112175419)

5:112128152 C/-

R499* (5:112162891)

R876* (5:112173917)

R876* (5:112173917)

DDR2

H340D (1:162731163)

KRAS

G12A (12:25398284)

G12A (12:25398284)

G12A (12:25398284)

PTPRF

D562G (1:44058144)

D562G (1:44058144)

SMAD2

R321* (18:45374882)

SMAD4

L495P (18:48604662)

TP53

R273C (17:7577121)

R273C (17:7577121)

R175H (17:7578406)

C275W (17:7577113)

MLL3

I155T (7:152012349)

I155T (7:152012349)

PARP14

Q1332P (3:122437236)

Q1332P (3:122437236)

PIK3CA

E545K (3: 178936091)

E545K (3: 178936091)

E545K (3: 178936091)

KDR

R1032* (4:55956221)

PRKCD

T419I (3:53220352)

RFC1

4:39290432 T/C

EXOC4

K765R (7:133682332)

TSC1

R288C (9:135787720)

FGFR2

R399* (10:123274723)

R399* (10:123274723)

NUP98

H1647D (11:3704460)

H1647D (11:3704460)

ERBB3

V104M (12:56478854)

V104M (12:56478854)

RASA3

V117M (13:114806499)

DNAH9

R4106H (17:11837216)

TAOK1

K484M (17:27835026)

K484M (17:27835026)

ATRX

X:76845412 +A

TTN

K13350N (2:179445230)

H8533Y (2:179571272)

E4246K (2:179604510)

EPHA4

2:222298957 +T


TC, colon tumor; LM, liver metastasis. Genomic coordinates are based on the hg19 genome build.

Kloosterman et al. Genome Biology 2011 12:R103   doi:10.1186/gb-2011-12-10-r103

Open Data