Cosmic variations for Paget Disease, Extramammary:
8
(show top 50)
(show all 112)
# |
Cosmic Mut ID |
Gene Symbol |
COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype) |
Mutation CDS |
Mutation AA |
GRCh38 Location |
Conf |
1 |
COSM85473645 |
TSHR |
skin,scrotum,carcinoma,NS
|
c.979G>A |
p.E327K |
14:81143037-81143037 |
8 |
2 |
COSM131090745 |
TSHR |
skin,scrotum,carcinoma,NS
|
c.979G>A |
p.E327K |
14:81143037-81143037 |
8 |
3 |
COSM123124384 |
TET2 |
skin,scrotum,carcinoma,NS
|
c.3833C>T |
p.T1278M |
4:105243745-105243745 |
8 |
4 |
COSM133376012 |
TET2 |
skin,scrotum,carcinoma,NS
|
c.3770C>T |
p.T1257M |
4:105243745-105243745 |
8 |
5 |
COSM98645072 |
TET2 |
skin,scrotum,carcinoma,NS
|
c.3770C>T |
p.T1257M |
4:105243745-105243745 |
8 |
6 |
COSM89622461 |
SF3B1 |
skin,scrotum,carcinoma,NS
|
c.3661G>C |
p.E1221Q |
2:197393067-197393067 |
8 |
7 |
COSM92933808 |
RBM10 |
skin,scrotum,carcinoma,NS
|
c.502C>T |
p.R168W |
23:47171133-47171133 |
8 |
8 |
COSM145517422 |
RBM10 |
skin,scrotum,carcinoma,NS
|
c.201+1635C>T |
p.? |
23:47171133-47171133 |
8 |
9 |
COSM100934282 |
RBM10 |
skin,scrotum,carcinoma,NS
|
c.307C>T |
p.R103W |
23:47171133-47171133 |
8 |
10 |
COSM90889863 |
RBM10 |
skin,scrotum,carcinoma,NS
|
c.201+1635C>T |
p.? |
23:47171133-47171133 |
8 |
11 |
COSM117792294 |
PIK3CB |
skin,scrotum,carcinoma,NS
|
c.277G>C |
p.E93Q |
3:138755874-138755874 |
8 |
12 |
COSM84193579 |
PIK3CB |
skin,scrotum,carcinoma,NS
|
c.277G>C |
p.E93Q |
3:138755874-138755874 |
8 |
13 |
COSM148932717 |
PIK3CA |
skin,scrotum,carcinoma,NS
|
c.1624G>A |
p.E542K |
3:179218294-179218294 |
8 |
14 |
COSM87132301 |
PIK3CA |
skin,scrotum,carcinoma,NS
|
c.1624G>A |
p.E542K |
3:179218294-179218294 |
8 |
15 |
COSM88066927 |
PBRM1 |
skin,scrotum,carcinoma,NS
|
c.3057G>C |
p.K1019N |
3:52587419-52587419 |
8 |
16 |
COSM102912184 |
PBRM1 |
skin,scrotum,carcinoma,NS
|
c.715-1G>C |
p.? |
3:52648443-52648443 |
8 |
17 |
COSM102946925 |
PBRM1 |
skin,scrotum,carcinoma,NS
|
c.3102G>C |
p.K1034N |
3:52587419-52587419 |
8 |
18 |
COSM101252563 |
PBRM1 |
skin,scrotum,carcinoma,NS
|
c.715-1G>C |
p.? |
3:52648443-52648443 |
8 |
19 |
COSM101262095 |
PBRM1 |
skin,scrotum,carcinoma,NS
|
c.2982G>C |
p.K994N |
3:52587419-52587419 |
8 |
20 |
COSM91773104 |
PBRM1 |
skin,scrotum,carcinoma,NS
|
c.715-1G>C |
p.? |
3:52648443-52648443 |
8 |
21 |
COSM91781187 |
PBRM1 |
skin,scrotum,carcinoma,NS
|
c.3057G>C |
p.K1019N |
3:52587419-52587419 |
8 |
22 |
COSM88059177 |
PBRM1 |
skin,scrotum,carcinoma,NS
|
c.715-1G>C |
p.? |
3:52648443-52648443 |
8 |
23 |
COSM93612884 |
PBRM1 |
skin,scrotum,carcinoma,NS
|
c.2961G>C |
p.K987N |
3:52587419-52587419 |
8 |
24 |
COSM102939249 |
PBRM1 |
skin,scrotum,carcinoma,NS
|
c.715-1G>C |
p.? |
3:52648443-52648443 |
8 |
25 |
COSM102542485 |
PBRM1 |
skin,scrotum,carcinoma,NS
|
c.715-1G>C |
p.? |
3:52648443-52648443 |
8 |
26 |
COSM104517624 |
PBRM1 |
skin,scrotum,carcinoma,NS
|
c.715-1G>C |
p.? |
3:52648443-52648443 |
8 |
27 |
COSM102551192 |
PBRM1 |
skin,scrotum,carcinoma,NS
|
c.3057G>C |
p.K1019N |
3:52587419-52587419 |
8 |
28 |
COSM104526481 |
PBRM1 |
skin,scrotum,carcinoma,NS
|
c.2982G>C |
p.K994N |
3:52587419-52587419 |
8 |
29 |
COSM93606074 |
PBRM1 |
skin,scrotum,carcinoma,NS
|
c.715-1G>C |
p.? |
3:52648443-52648443 |
8 |
30 |
COSM102919471 |
PBRM1 |
skin,scrotum,carcinoma,NS
|
c.3102G>C |
p.K1034N |
3:52587419-52587419 |
8 |
31 |
COSM87672471 |
NOTCH1 |
skin,scrotum,carcinoma,NS
|
c.3759C>G |
p.C1253W |
9:136506858-136506858 |
8 |
32 |
COSM93525650 |
NF1 |
skin,scrotum,carcinoma,NS
|
c.3233C>G |
p.S1078* |
17:31232108-31232108 |
8 |
33 |
COSM93672833 |
NF1 |
skin,scrotum,carcinoma,NS
|
c.3233C>G |
p.S1078* |
17:31232108-31232108 |
8 |
34 |
COSM94442171 |
MTOR |
skin,scrotum,carcinoma,NS
|
c.4322G>C |
p.G1441A |
1:11167449-11167449 |
8 |
35 |
COSM105101724 |
MRE11 |
skin,scrotum,carcinoma,NS
|
c.1603C>G |
p.Q535E |
11:94447408-94447408 |
8 |
36 |
COSM93071202 |
MRE11 |
skin,scrotum,carcinoma,NS
|
c.1594C>G |
p.Q532E |
11:94447408-94447408 |
8 |
37 |
COSM100740576 |
MRE11 |
skin,scrotum,carcinoma,NS
|
c.1594C>G |
p.Q532E |
11:94447408-94447408 |
8 |
38 |
COSM93110352 |
MRE11 |
skin,scrotum,carcinoma,NS
|
c.1594C>G |
p.Q532E |
11:94447408-94447408 |
8 |
39 |
COSM88424292 |
KMT2C |
skin,scrotum,carcinoma,NS
|
c.13141G>A |
p.E4381K |
7:152148786-152148786 |
8 |
40 |
COSM90831781 |
KMT2C |
skin,scrotum,carcinoma,NS
|
c.13141G>A |
p.E4381K |
7:152148786-152148786 |
8 |
41 |
COSM103019785 |
KDM5C |
skin,scrotum,carcinoma,NS
|
c.4486G>C |
p.E1496Q |
23:53193161-53193161 |
8 |
42 |
COSM98823890 |
KDM5C |
skin,scrotum,carcinoma,NS
|
c.4489G>C |
p.E1497Q |
23:53193161-53193161 |
8 |
43 |
COSM98764570 |
KDM5C |
skin,scrotum,carcinoma,NS
|
c.4357G>C |
p.E1453Q |
23:53193161-53193161 |
8 |
44 |
COSM98767398 |
KDM5C |
skin,scrotum,carcinoma,NS
|
c.4381G>T |
p.E1461* |
23:53193137-53193137 |
8 |
45 |
COSM111433924 |
KDM5C |
skin,scrotum,carcinoma,NS
|
c.4047-324G>C |
p.? |
23:53193161-53193161 |
8 |
46 |
COSM111437140 |
KDM5C |
skin,scrotum,carcinoma,NS
|
c.4047-300G>T |
p.? |
23:53193137-53193137 |
8 |
47 |
COSM98752143 |
KDM5C |
skin,scrotum,carcinoma,NS
|
c.4480G>C |
p.E1494Q |
23:53193161-53193161 |
8 |
48 |
COSM98755205 |
KDM5C |
skin,scrotum,carcinoma,NS
|
c.4504G>T |
p.E1502* |
23:53193137-53193137 |
8 |
49 |
COSM103022743 |
KDM5C |
skin,scrotum,carcinoma,NS
|
c.4510G>T |
p.E1504* |
23:53193137-53193137 |
8 |
50 |
COSM98827439 |
KDM5C |
skin,scrotum,carcinoma,NS
|
c.4513G>T |
p.E1505* |
23:53193137-53193137 |
8 |
|