Cosmic variations for Epidermoid Brain Cyst:
9
(show top 50)
(show all 1388)
# |
Cosmic Mut ID |
Gene Symbol |
COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype) |
Mutation CDS |
Mutation AA |
GRCh38 Location |
Conf |
1 |
COSM87910628 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.772G>A |
p.E258K |
17:7674191-7674191 |
4 |
2 |
COSM87910495 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.832C>T |
p.P278S |
17:7673788-7673788 |
4 |
3 |
COSM87904406 |
TP53 |
skin,ear,carcinoma,squamous cell carcinoma
|
c.796G>A |
p.G266R |
17:7673824-7673824 |
4 |
4 |
COSM87910722 |
TP53 |
skin,ear,carcinoma,squamous cell carcinoma
|
c.764T>G |
p.I255S |
17:7674199-7674199 |
4 |
5 |
COSM87899887 |
TP53 |
skin,ear,carcinoma,squamous cell carcinoma
|
c.856G>A |
p.E286K |
17:7673764-7673764 |
4 |
6 |
COSM87905569 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.740A>C |
p.N247T |
17:7674223-7674223 |
4 |
7 |
COSM87899145 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.763A>T |
p.I255F |
17:7674200-7674200 |
4 |
8 |
COSM87899377 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.375+1G>A |
p.? |
17:7675993-7675993 |
4 |
9 |
COSM88137274 |
TP53 |
skin,ear,carcinoma,squamous cell carcinoma
|
c.988C>T |
p.L330F |
17:7673540-7673540 |
4 |
10 |
COSM87897627 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.574C>T |
p.Q192* |
17:7674957-7674957 |
4 |
11 |
COSM87917387 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.746G>C |
p.R249T |
17:7674217-7674217 |
4 |
12 |
COSM87970671 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.766A>C |
p.T256P |
17:7674197-7674197 |
4 |
13 |
COSM87961721 |
TP53 |
skin,ear,carcinoma,squamous cell carcinoma
|
c.702C>A |
p.Y234* |
17:7674261-7674261 |
4 |
14 |
COSM87899395 |
TP53 |
skin,ear,carcinoma,squamous cell carcinoma
|
c.824G>T |
p.C275F |
17:7673796-7673796 |
4 |
15 |
COSM87906137 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.260C>A |
p.P87Q |
17:7676109-7676109 |
4 |
16 |
COSM87991360 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.714T>A |
p.C238* |
17:7674249-7674249 |
4 |
17 |
COSM87961289 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.706T>C |
p.Y236H |
17:7674257-7674257 |
4 |
18 |
COSM87898463 |
TP53 |
skin,face,carcinoma,squamous cell carcinoma
|
c.733G>T |
p.G245C |
17:7674230-7674230 |
4 |
19 |
COSM88236209 |
RPTOR |
skin,ear,carcinoma,squamous cell carcinoma
|
c.8C>A |
p.S3Y |
17:80545637-80545637 |
4 |
20 |
COSM139854076 |
PTPRS |
skin,ear,carcinoma,squamous cell carcinoma
|
c.5600A>C |
p.K1867T |
19:5208279-5208279 |
4 |
21 |
COSM90829299 |
PTCH1 |
skin,face,carcinoma,squamous cell carcinoma
|
c.3724G>A |
p.E1242K |
9:95449149-95449149 |
4 |
22 |
COSM97108079 |
NRAS |
skin,face,carcinoma,squamous cell carcinoma
|
c.183A>T |
p.Q61H |
1:114713907-114713907 |
4 |
23 |
COSM97110803 |
NRAS |
skin,face,carcinoma,squamous cell carcinoma
|
c.443C>T |
p.T148I |
1:114709576-114709576 |
4 |
24 |
COSM97107717 |
NRAS |
skin,face,carcinoma,squamous cell carcinoma
|
c.38G>T |
p.G13V |
1:114716123-114716123 |
4 |
25 |
COSM88407030 |
NOTCH2 |
skin,face,carcinoma,squamous cell carcinoma
|
c.5836A>G |
p.T1946A |
1:119918499-119918499 |
4 |
26 |
COSM88391473 |
NOTCH2 |
skin,ear,carcinoma,squamous cell carcinoma
|
c.6607A>G |
p.N2203D |
1:119916115-119916115 |
4 |
27 |
COSM88396973 |
NOTCH2 |
skin,face,carcinoma,squamous cell carcinoma
|
c.5449G>A |
p.D1817N |
1:119920259-119920259 |
4 |
28 |
COSM88403804 |
NOTCH2 |
skin,ear,carcinoma,squamous cell carcinoma
|
c.3511T>C |
p.Y1171H |
1:119937293-119937293 |
4 |
29 |
COSM88388711 |
NOTCH2 |
skin,face,carcinoma,squamous cell carcinoma
|
c.337C>T |
p.R113* |
1:120005407-120005407 |
4 |
30 |
COSM88409975 |
NOTCH2 |
skin,face,carcinoma,squamous cell carcinoma
|
c.5524T>C |
p.S1842P |
1:119919569-119919569 |
4 |
31 |
COSM88399925 |
NOTCH2 |
skin,face,carcinoma,squamous cell carcinoma
|
c.7097C>T |
p.A2366V |
1:119915625-119915625 |
4 |
32 |
COSM88404240 |
NOTCH2 |
skin,face,carcinoma,squamous cell carcinoma
|
c.5141G>A |
p.G1714D |
1:119922308-119922308 |
4 |
33 |
COSM88396449 |
NOTCH2 |
skin,ear,carcinoma,squamous cell carcinoma
|
c.2504C>T |
p.A835V |
1:119949102-119949102 |
4 |
34 |
COSM88389161 |
NOTCH2 |
skin,face,carcinoma,squamous cell carcinoma
|
c.2987G>A |
p.C996Y |
1:119940751-119940751 |
4 |
35 |
COSM88409965 |
NOTCH2 |
skin,face,carcinoma,squamous cell carcinoma
|
c.5524T>A |
p.S1842T |
1:119919569-119919569 |
4 |
36 |
COSM88409980 |
NOTCH2 |
skin,face,carcinoma,squamous cell carcinoma
|
c.1060A>G |
p.I354V |
1:119969559-119969559 |
4 |
37 |
COSM88404245 |
NOTCH2 |
skin,face,carcinoma,squamous cell carcinoma
|
c.5140G>A |
p.G1714S |
1:119922309-119922309 |
4 |
38 |
COSM88394293 |
NOTCH2 |
skin,face,carcinoma,squamous cell carcinoma
|
c.2414T>C |
p.L805P |
1:119950789-119950789 |
4 |
39 |
COSM88394286 |
NOTCH2 |
skin,face,carcinoma,squamous cell carcinoma
|
c.5266G>A |
p.E1756K |
1:119921757-119921757 |
4 |
40 |
COSM88402034 |
NOTCH2 |
skin,face,carcinoma,squamous cell carcinoma
|
c.5006A>G |
p.E1669G |
1:119922443-119922443 |
4 |
41 |
COSM88393640 |
NOTCH2 |
skin,face,carcinoma,squamous cell carcinoma
|
c.5942T>C |
p.L1981P |
1:119917750-119917750 |
4 |
42 |
COSM88393645 |
NOTCH2 |
skin,face,carcinoma,squamous cell carcinoma
|
c.2602C>G |
p.Q868E |
1:119948564-119948564 |
4 |
43 |
COSM88394358 |
NOTCH2 |
skin,ear,carcinoma,squamous cell carcinoma
|
c.2839C>T |
p.Q947* |
1:119941668-119941668 |
4 |
44 |
COSM88403799 |
NOTCH2 |
skin,ear,carcinoma,squamous cell carcinoma
|
c.3697C>T |
p.P1233S |
1:119929171-119929171 |
4 |
45 |
COSM88406288 |
NOTCH2 |
skin,ear,carcinoma,squamous cell carcinoma
|
c.1378T>C |
p.C460R |
1:119967508-119967508 |
4 |
46 |
COSM88406270 |
NOTCH2 |
skin,ear,carcinoma,squamous cell carcinoma
|
c.3578A>G |
p.N1193S |
1:119935549-119935549 |
4 |
47 |
COSM88404251 |
NOTCH2 |
skin,face,carcinoma,squamous cell carcinoma
|
c.2314T>C |
p.C772R |
1:119953594-119953594 |
4 |
48 |
COSM88402024 |
NOTCH2 |
skin,face,carcinoma,squamous cell carcinoma
|
c.5468T>C |
p.V1823A |
1:119920240-119920240 |
4 |
49 |
COSM88407035 |
NOTCH2 |
skin,face,carcinoma,squamous cell carcinoma
|
c.2234G>A |
p.C745Y |
1:119953674-119953674 |
4 |
50 |
COSM88391488 |
NOTCH2 |
skin,ear,carcinoma,squamous cell carcinoma
|
c.4708G>A |
p.G1570S |
1:119923788-119923788 |
4 |
|