Table 2.
Gene | Mutation frequency in our set (N = 16) | Mutation frequency in expansion set (N = 40) | Mutation frequency in TCGA set (N = 14) | Total (N) | AA substitution | COSMIC v.65 | Number of damage algorithms |
---|---|---|---|---|---|---|---|
TP53 |
- |
6 of 40 |
2 of 14 |
8 of 70 |
K93R |
O |
4 of 4 |
122_122del |
O |
n/a |
|||||
Y124C |
O |
4 of 4 |
|||||
C203F |
O |
4 of 4 |
|||||
G206S |
O |
4 of 4 |
|||||
R209W |
O |
4 of 4 |
|||||
E219* |
O |
2 of 4 |
|||||
G295A |
O |
4 of 4 |
|||||
SETD2 |
1 of 16 |
2 of 40 |
1 of 14 |
4 of 70 |
R839* |
- |
1 of 2 |
V1576F |
- |
3 of 3 |
|||||
Q1981* |
- |
2 of 2 |
|||||
K2067* |
- |
0 of 1 |
|||||
CSMD3 |
1 of 16 |
1 of 40 |
2 of 14 |
4 of 70 |
P667S |
O |
3 of 4 |
M1440I |
- |
3 of 4 |
|||||
K1928N |
- |
3 of 4 |
|||||
Y2028C |
- |
3 of 4 |
|||||
PTPRC |
2 of 16 |
1 of 40 |
- |
3 of 70 |
Y444N |
O |
3 of 4 |
T453M |
- |
3 of 4 |
|||||
T1176M |
- |
4 of 4 |
|||||
SYNE2 |
1 of 16 |
2 of 40 |
- |
3 of 70 |
2579_2580del |
- |
n/a |
E3880* |
- |
n/a |
|||||
E3903K |
O |
3 of 4 |
|||||
GRIN2A |
- |
3 of 40 |
- |
3 of 70 |
L307Q |
- |
3 of 4 |
N886S |
O |
0 of 4 |
|||||
T1069M |
O |
3 of 4 |
|||||
CDH10 |
- |
2 of 40 |
1 of 14 |
3 of 70 |
E171K |
O |
4 of 4 |
D315H |
O |
1 of 4 |
|||||
R472C |
O |
4 of 4 |
|||||
ERBB2 |
- |
- |
3 of 14 |
3 of 70 |
E740delinsEAYVM (2) |
- |
n/a |
G746delinsVC |
O |
n/a |
|||||
SMAD4 |
- |
- |
3 of 14 |
3 of 70 |
S242* |
- |
1 of 2 |
R361S |
O |
4 of 4 |
|||||
D493N |
O |
3 of 4 |
|||||
CDC27 |
2 of 16 |
- |
- |
2 of 70 |
I235T |
- |
4 of 4 |
A273G |
O |
3 of 4 |
|||||
GABRG1 |
2 of 16 |
- |
- |
2 of 70 |
D43N |
- |
2 of 4 |
T318S |
- |
3 of 4 |
|||||
YTHDF1 |
2 of 16 |
- |
- |
2 of 70 |
I492V (2) |
- |
4 of 4 |
PCDHB14 |
2 of 16 |
- |
- |
2 of 70 |
Y670S (2) |
- |
2 of 3 |
MECP2 |
1 of 16 |
- |
1 of 14 |
2 of 70 |
R168L |
- |
2 of 3 |
G273V |
O |
3 of 3 |
|||||
NRAS |
- |
2 of 40 |
- |
2 of 70 |
Q61H |
O |
2 of 4 |
Q61K |
O |
3 of 4 |
|||||
MET |
- |
- |
2 of 14 |
2 of 70 |
Y1021* |
- |
2 of 2 |
1027_1028del |
- |
NA |
|||||
EPHA2 |
- |
2 of 40 |
- |
2 of 70 |
P147L |
O |
4 of 4 |
P278S |
O |
2 of 4 |
|||||
CHD2 |
- |
2 of 40 |
- |
2 of 70 |
S391fs |
- |
n/a |
splicing(c.5153) |
O |
n/a |
|||||
MST1 |
- |
- |
2 of 14 |
2 of 70 |
406_407del |
- |
n/a |
R535G |
- |
3 of 4 |
|||||
ERBB4 |
1 of 16 |
- |
- |
1 of 70 |
V840I |
O |
4 of 4 |
PIK3CA |
1 of 16 |
- |
- |
1 of 70 |
G118D |
O |
2 of 3 |
AKT2 |
1 of 16 |
- |
- |
1 of 70 |
D153Y |
- |
4 of 4 |
TSC1 |
1 of 16 |
- |
- |
1 of 70 |
Q793* |
- |
2 of 2 |
CTNNB1 |
1 of 16 |
- |
- |
1 of 70 |
S37C |
O |
4 of 4 |
TGFBR2 |
1 of 16 |
- |
- |
1 of 70 |
R504W |
O |
4 of 4 |
PBRM1 |
1 of 16 |
- |
- |
1 of 70 |
E830* |
- |
2 of 2 |
MBD2 |
1 of 16 |
- |
- |
1 of 70 |
E373K |
- |
4 of 4 |
CHEK2 |
1 of 16 |
- |
- |
1 of 70 |
R191G |
- |
3 of 4 |
PARP4 |
1 of 16 |
- |
- |
1 of 70 |
I1039T |
O |
4 of 4 |
CUL3 |
1 of 16 |
- |
- |
1 of 70 |
Q516* |
- |
2 of 2 |
SOD2 |
1 of 16 |
- |
- |
1 of 70 |
K194E |
- |
3 of 4 |
GABRD |
1 of 16 |
- |
- |
1 of 70 |
D174E |
- |
4 of 4 |
NDRG1 |
1 of 16 |
- |
- |
1 of 70 |
L257fs |
- |
n/a |
TFG |
1 of 16 |
- |
- |
1 of 70 |
E240* |
- |
1 of 1 |
SYK |
1 of 16 |
- |
- |
1 of 70 |
A400S |
- |
4 of 4 |
ASPSCR1 |
1 of 16 |
- |
- |
1 of 70 |
L252Q |
- |
3 of 3 |
PCDHB15 | 1 of 16 | - | - | 1 of 70 | Y670S | - | 3 of 3 |
COSMIC, Catalogue of Somatic Mutations in Cancer; n/a, not available; TCGA, The Cancer Genome Atlas.