6
(showing 93, show less)
UniProtKB/Swiss-Prot genetic disease variations for Brooke-Spiegler Syndrome:
74
(showing 1, show less)
Cosmic variations for Brooke-Spiegler Syndrome:
9
(showing 1284, show less)
# |
Cosmic Mut ID |
Gene Symbol |
COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype) |
Mutation CDS |
Mutation AA |
GRCh38 Location |
Conf |
1 |
COSM44097
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.530C>T |
p.P177L |
17:7675082-7675082 |
28 |
2 |
COSM44295
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.993+1G>A |
p.? |
17:7673534-7673534 |
28 |
3 |
COSM10939
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.832C>T |
p.P278S |
17:7673788-7673788 |
28 |
4 |
COSM10662
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.743G>A |
p.R248Q |
17:7674220-7674220 |
28 |
5 |
COSM11449
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.388C>T |
p.L130F |
17:7675224-7675224 |
28 |
6 |
COSM44068
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.532C>A |
p.H178N |
17:7675080-7675080 |
28 |
7 |
COSM10726
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.856G>A |
p.E286K |
17:7673764-7673764 |
28 |
8 |
COSM10992
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.844C>G |
p.R282G |
17:7673776-7673776 |
28 |
9 |
COSM45733
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.432G>A |
p.Q144Q |
17:7675180-7675180 |
28 |
10 |
COSM43700
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.712T>A |
p.C238S |
17:7674251-7674251 |
28 |
11 |
COSM44227
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.854A>T |
p.E285V |
17:7673766-7673766 |
28 |
12 |
COSM44126
|
TP53
|
skin,eye,carcinoma,basal cell carcinoma
|
c.507G>A |
p.M169I |
17:7675105-7675105 |
28 |
13 |
COSM44435
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.96+1G>A |
p.? |
17:7676381-7676381 |
28 |
14 |
COSM43920
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.680C>T |
p.S227F |
17:7674283-7674283 |
28 |
15 |
COSM44436
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.375+2T>C |
p.? |
17:7675992-7675992 |
28 |
16 |
COSM11084
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.517G>A |
p.V173M |
17:7675095-7675095 |
28 |
17 |
COSM43742
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.419C>T |
p.T140I |
17:7675193-7675193 |
28 |
18 |
COSM10887
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.833C>G |
p.P278R |
17:7673787-7673787 |
28 |
19 |
COSM44241
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.592G>T |
p.E198* |
17:7674939-7674939 |
28 |
20 |
COSM43583
|
TP53
|
skin,eye,carcinoma,basal cell carcinoma
|
c.425C>T |
p.P142L |
17:7675187-7675187 |
28 |
21 |
COSM44552
|
TP53
|
skin,face,carcinoma,basal cell carcinoma
|
c.509C>T |
p.T170M |
17:7675103-7675103 |
28 |
22 |
COSM13233
|
SUFU
|
skin,face,carcinoma,basal cell carcinoma
|
c.591C>T |
p.F197F |
10:102592718-102592718 |
28 |
23 |
COSM13234
|
SUFU
|
skin,face,carcinoma,basal cell carcinoma
|
c.560C>T |
p.P187L |
10:102592687-102592687 |
28 |
24 |
COSM3942016
|
SMO
|
skin,face,carcinoma,basal cell carcinoma
|
c.1376C>T |
p.A459V |
7:129209307-129209307 |
28 |
25 |
COSM13145
|
SMO
|
skin,face,carcinoma,basal cell carcinoma
|
c.595C>T |
p.R199W |
7:129205260-129205260 |
28 |
26 |
COSM216037
|
SMO
|
skin,face,carcinoma,basal cell carcinoma
|
c.1234C>T |
p.L412F |
7:129206557-129206557 |
28 |
27 |
COSM13144
|
SMO
|
skin,face,carcinoma,basal cell carcinoma
|
c.1598G>A |
p.S533N |
7:129210494-129210494 |
28 |
28 |
COSM13240
|
SMO
|
skin,face,carcinoma,basal cell carcinoma
|
c.1955C>T |
p.A652V |
7:129212042-129212042 |
28 |
29 |
COSM17598
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.550C>T |
p.Q184* |
9:95485719-95485719 |
28 |
30 |
COSM17495
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.1229G>A |
p.S410N |
9:95478173-95478173 |
28 |
31 |
COSM17511
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.3583A>T |
p.T1195S |
9:95449290-95449290 |
28 |
32 |
COSM17522
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.3586C>T |
p.P1196S |
9:95449287-95449287 |
28 |
33 |
COSM14439
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.992C>T |
p.S331F |
9:95480044-95480044 |
28 |
34 |
COSM17584
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.2105C>T |
p.P702L |
9:95468896-95468896 |
28 |
35 |
COSM14446
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.3054G>A |
p.W1018* |
9:95458127-95458127 |
28 |
36 |
COSM17532
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.768G>A |
p.W256* |
9:95480567-95480567 |
28 |
37 |
COSM26377
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.3449+1G>A |
p.? |
9:95453477-95453477 |
28 |
38 |
COSM17473
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.2308C>T |
p.R770* |
9:95467368-95467368 |
28 |
39 |
COSM17599
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.2120C>T |
p.S707F |
9:95468881-95468881 |
28 |
40 |
COSM17533
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.2251-1G>A |
p.? |
9:95467426-95467426 |
28 |
41 |
COSM29033
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.2038G>T |
p.E680* |
9:95468963-95468963 |
28 |
42 |
COSM17468
|
PTCH1
|
skin,neck,carcinoma,basal cell carcinoma
|
c.584G>T |
p.R195M |
9:95485685-95485685 |
28 |
43 |
COSM29043
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.1634G>A |
p.G545E |
9:95476128-95476128 |
28 |
44 |
COSM29071
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.3549+5G>A |
p.? |
9:95449836-95449836 |
28 |
45 |
COSM29045
|
PTCH1
|
skin,ear,carcinoma,basal cell carcinoma
|
c.3168+5G>T |
p.? |
9:95458008-95458008 |
28 |
46 |
COSM29046
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.747-1G>A |
p.? |
9:95480589-95480589 |
28 |
47 |
COSM26363
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.2446C>T |
p.Q816* |
9:95467230-95467230 |
28 |
48 |
COSM29053
|
PTCH1
|
skin,neck,carcinoma,basal cell carcinoma
|
c.833G>A |
p.W278* |
9:95480502-95480502 |
28 |
49 |
COSM17582
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.1082A>C |
p.Q361P |
9:95479133-95479133 |
28 |
50 |
COSM29040
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.2693A>G |
p.D898G |
9:95461866-95461866 |
28 |
51 |
COSM17493
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.1316T>C |
p.V439A |
9:95478086-95478086 |
28 |
52 |
COSM17552
|
PTCH1
|
skin,ear,carcinoma,basal cell carcinoma
|
c.1196G>A |
p.W399* |
9:95479019-95479019 |
28 |
53 |
COSM29055
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.2050G>T |
p.E684* |
9:95468951-95468951 |
28 |
54 |
COSM29048
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.1347+1G>A |
p.? |
9:95478054-95478054 |
28 |
55 |
COSM17547
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.1511C>A |
p.P504Q |
9:95476850-95476850 |
28 |
56 |
COSM29072
|
PTCH1
|
skin,neck,carcinoma,basal cell carcinoma
|
c.1067+1G>A |
p.? |
9:95479968-95479968 |
28 |
57 |
COSM144232
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.3209T>G |
p.M1070R |
9:95456373-95456373 |
28 |
58 |
COSM14452
|
PTCH1
|
skin,neck,carcinoma,basal cell carcinoma
|
c.2321G>A |
p.G774E |
9:95467355-95467355 |
28 |
59 |
COSM17460
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.3917C>T |
p.P1306L |
9:95447339-95447339 |
28 |
60 |
COSM144244
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.994A>T |
p.R332* |
9:95480042-95480042 |
28 |
61 |
COSM17498
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.2033C>T |
p.T678I |
9:95468968-95468968 |
28 |
62 |
COSM17520
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.584G>A |
p.R195K |
9:95485685-95485685 |
28 |
63 |
COSM17519
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.463C>T |
p.P155S |
9:95485806-95485806 |
28 |
64 |
COSM29147
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.1356T>G |
p.Y452* |
9:95477694-95477694 |
28 |
65 |
COSM17494
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.754C>T |
p.P252S |
9:95480581-95480581 |
28 |
66 |
COSM17462
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.1068-2A>T |
p.? |
9:95479149-95479149 |
28 |
67 |
COSM29061
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.493G>T |
p.E165* |
9:95485776-95485776 |
28 |
68 |
COSM144239
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.1854C>A |
p.C618* |
9:95469147-95469147 |
28 |
69 |
COSM17585
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.2008C>T |
p.P670S |
9:95468993-95468993 |
28 |
70 |
COSM14467
|
PTCH1
|
skin,ear,carcinoma,basal cell carcinoma
|
c.3236G>T |
p.S1079I |
9:95456346-95456346 |
28 |
71 |
COSM17497
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.1433C>T |
p.A478V |
9:95477617-95477617 |
28 |
72 |
COSM17492
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.1085C>T |
p.T362I |
9:95479130-95479130 |
28 |
73 |
COSM17530
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.2965G>T |
p.E989* |
9:95458216-95458216 |
28 |
74 |
COSM14464
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.1804C>T |
p.R602* |
9:95469856-95469856 |
28 |
75 |
COSM17496
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.2072C>T |
p.T691I |
9:95468929-95468929 |
28 |
76 |
COSM144245
|
PTCH1
|
skin,eye,carcinoma,basal cell carcinoma
|
c.1585A>T |
p.K529* |
9:95476776-95476776 |
28 |
77 |
COSM17600
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.2207C>T |
p.A736V |
9:95468794-95468794 |
28 |
78 |
COSM17483
|
PTCH1
|
skin,neck,carcinoma,basal cell carcinoma
|
c.1729-1G>T |
p.? |
9:95469932-95469932 |
28 |
79 |
COSM17601
|
PTCH1
|
skin,face,carcinoma,basal cell carcinoma
|
c.2011C>T |
p.H671Y |
9:95468990-95468990 |
28 |
80 |
COSM520
|
KRAS
|
skin,ear,carcinoma,basal cell carcinoma
|
c.35G>T |
p.G12V |
12:25245350-25245350 |
28 |
81 |
COSM133631
|
BRAF
|
skin,face,carcinoma,basal cell carcinoma
|
c.1828T>A |
p.F610I |
7:140753307-140753307 |
28 |
82 |
COSM133632
|
BRAF
|
skin,face,carcinoma,basal cell carcinoma
|
c.1789C>T |
p.L597L |
7:140753346-140753346 |
28 |
83 |
COSM6926860
|
ZFHX3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.5825G>A |
p.G1942E |
16:72796857-72796857 |
21 |
84 |
COSM6969201
|
ZFHX3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.11050G>A |
p.D3684N |
16:72787226-72787226 |
21 |
85 |
COSM6953811
|
ZFHX3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1991C>T |
p.S664F |
16:72958155-72958155 |
21 |
86 |
COSM6926862
|
ZFHX3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1261G>A |
p.G421R |
16:72958885-72958885 |
21 |
87 |
COSM6936924
|
ZFHX3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.10847C>T |
p.S3616F |
16:72787429-72787429 |
21 |
88 |
COSM3691166
|
ZFHX3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2084C>T |
p.P695L |
16:72958062-72958062 |
21 |
89 |
COSM6926861
|
ZFHX3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1655C>T |
p.S552F |
16:72958491-72958491 |
21 |
90 |
COSM6982918
|
YES1
|
skin,eye,carcinoma,NS
|
c.851G>A |
p.G284E |
18:743289-743289 |
21 |
91 |
COSM212945
|
XPO1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.782G>A |
p.R261Q |
2:61496985-61496985 |
21 |
92 |
COSM6936922
|
TSC2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2060C>T |
p.S687F |
16:2071897-2071897 |
21 |
93 |
COSM6926855
|
TSC2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.679T>A |
p.C227S |
16:2056674-2056674 |
21 |
94 |
COSM6953809
|
TSC2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.869C>T |
p.P290L |
16:2058767-2058767 |
21 |
95 |
COSM4736805
|
TSC1
|
skin,eye,carcinoma,NS
|
c.2065C>T |
p.R689C |
9:132903794-132903794 |
21 |
96 |
COSM6912933
|
TRAF7
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1802C>T |
p.T601I |
16:2176104-2176104 |
21 |
97 |
COSM6971614
|
TRAF7
|
skin,eye,carcinoma,NS
|
c.349G>A |
p.E117K |
16:2171264-2171264 |
21 |
98 |
COSM6949578
|
TP63
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1922C>T |
p.A641V |
3:189894381-189894381 |
21 |
99 |
COSM44071
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.955A>G |
p.K319E |
17:7673573-7673573 |
21 |
100 |
COSM10812
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.722C>T |
p.S241F |
17:7674241-7674241 |
21 |
101 |
COSM10988
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.772G>A |
p.E258K |
17:7674191-7674191 |
21 |
102 |
COSM45074
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.829T>G |
p.C277G |
17:7673791-7673791 |
21 |
103 |
COSM10728
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.839G>A |
p.R280K |
17:7673781-7673781 |
21 |
104 |
COSM45739
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.677G>C |
p.G226A |
17:7674286-7674286 |
21 |
105 |
COSM10705
|
TP53
|
skin,face,carcinoma,NS
|
c.586C>T |
p.R196* |
17:7674945-7674945 |
21 |
106 |
COSM10701
|
TP53
|
skin,ear,carcinoma,NS
|
c.824G>T |
p.C275F |
17:7673796-7673796 |
21 |
107 |
COSM43544
|
TP53
|
skin,face,carcinoma,NS
|
c.260C>A |
p.P87Q |
17:7676109-7676109 |
21 |
108 |
COSM10650
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.529C>T |
p.P177S |
17:7675083-7675083 |
21 |
109 |
COSM44326
|
TP53
|
skin,face,carcinoma,NS
|
c.706T>C |
p.Y236H |
17:7674257-7674257 |
21 |
110 |
COSM43665
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.746G>C |
p.R249T |
17:7674217-7674217 |
21 |
111 |
COSM45774
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.899C>G |
p.P300R |
17:7673721-7673721 |
21 |
112 |
COSM10749
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.830G>T |
p.C277F |
17:7673790-7673790 |
21 |
113 |
COSM10660
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.818G>A |
p.R273H |
17:7673802-7673802 |
21 |
114 |
COSM10771
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.749C>T |
p.P250L |
17:7674214-7674214 |
21 |
115 |
COSM11152
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.700T>C |
p.Y234H |
17:7674263-7674263 |
21 |
116 |
COSM10768
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.535C>T |
p.H179Y |
17:7675077-7675077 |
21 |
117 |
COSM45834
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.409C>A |
p.L137M |
17:7675203-7675203 |
21 |
118 |
COSM10905
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.451C>T |
p.P151S |
17:7675161-7675161 |
21 |
119 |
COSM6932
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.733G>A |
p.G245S |
17:7674230-7674230 |
21 |
120 |
COSM10648
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.524G>A |
p.R175H |
17:7675088-7675088 |
21 |
121 |
COSM45424
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.781A>T |
p.S261C |
17:7674182-7674182 |
21 |
122 |
COSM10656
|
TP53
|
skin,face,carcinoma,NS
|
c.742C>T |
p.R248W |
17:7674221-7674221 |
21 |
123 |
COSM10659
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.817C>T |
p.R273C |
17:7673803-7673803 |
21 |
124 |
COSM10794
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.796G>A |
p.G266R |
17:7673824-7673824 |
21 |
125 |
COSM43582
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.454C>T |
p.P152S |
17:7675158-7675158 |
21 |
126 |
COSM6903965
|
TP53
|
skin,ear,carcinoma,NS
|
c.988C>T |
p.L330F |
17:7673540-7673540 |
21 |
127 |
COSM10704
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.844C>T |
p.R282W |
17:7673776-7673776 |
21 |
128 |
COSM45114
|
TP53
|
skin,ear,carcinoma,NS
|
c.702C>A |
p.Y234* |
17:7674261-7674261 |
21 |
129 |
COSM45830
|
TP53
|
skin,face,carcinoma,NS
|
c.766A>C |
p.T256P |
17:7674197-7674197 |
21 |
130 |
COSM6549
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.743G>T |
p.R248L |
17:7674220-7674220 |
21 |
131 |
COSM45304
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.375+1G>A |
p.? |
17:7675993-7675993 |
21 |
132 |
COSM10867
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.797G>A |
p.G266E |
17:7673823-7673823 |
21 |
133 |
COSM43714
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.836G>A |
p.G279E |
17:7673784-7673784 |
21 |
134 |
COSM44226
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.380C>T |
p.S127F |
17:7675232-7675232 |
21 |
135 |
COSM10995
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.580C>T |
p.L194F |
17:7674951-7674951 |
21 |
136 |
COSM45322
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.757A>G |
p.T253A |
17:7674206-7674206 |
21 |
137 |
COSM45444
|
TP53
|
skin,eye,carcinoma,NS
|
c.587G>T |
p.R196L |
17:7674944-7674944 |
21 |
138 |
COSM43592
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.395A>T |
p.K132M |
17:7675217-7675217 |
21 |
139 |
COSM10788
|
TP53
|
skin,ear,carcinoma,NS
|
c.764T>G |
p.I255S |
17:7674199-7674199 |
21 |
140 |
COSM43702
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.571C>T |
p.P191S |
17:7674960-7674960 |
21 |
141 |
COSM44398
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.682G>A |
p.D228N |
17:7674281-7674281 |
21 |
142 |
COSM43588
|
TP53
|
skin,face,carcinoma,NS
|
c.740A>C |
p.N247T |
17:7674223-7674223 |
21 |
143 |
COSM43663
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.826G>C |
p.A276P |
17:7673794-7673794 |
21 |
144 |
COSM44120
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.532C>T |
p.H178Y |
17:7675080-7675080 |
21 |
145 |
COSM11081
|
TP53
|
skin,face,carcinoma,NS
|
c.733G>T |
p.G245C |
17:7674230-7674230 |
21 |
146 |
COSM11073
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1024C>T |
p.R342* |
17:7670685-7670685 |
21 |
147 |
COSM44603
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.835G>A |
p.G279R |
17:7673785-7673785 |
21 |
148 |
COSM45732
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.480G>C |
p.M160I |
17:7675132-7675132 |
21 |
149 |
COSM12296
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.292C>T |
p.P98S |
17:7676077-7676077 |
21 |
150 |
COSM10863
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.833C>T |
p.P278L |
17:7673787-7673787 |
21 |
151 |
COSM10733
|
TP53
|
skin,face,carcinoma,NS
|
c.574C>T |
p.Q192* |
17:7674957-7674957 |
21 |
152 |
COSM6937552
|
TP53
|
skin,eye,carcinoma,NS
|
c.859G>C |
p.E287Q |
17:7673761-7673761 |
21 |
153 |
COSM43651
|
TP53
|
skin,face,carcinoma,NS
|
c.763A>T |
p.I255F |
17:7674200-7674200 |
21 |
154 |
COSM43635
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.536A>T |
p.H179L |
17:7675076-7675076 |
21 |
155 |
COSM43837
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.843C>G |
p.D281E |
17:7673777-7673777 |
21 |
156 |
COSM45734
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.622G>T |
p.D208Y |
17:7674909-7674909 |
21 |
157 |
COSM44096
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.748C>G |
p.P250A |
17:7674215-7674215 |
21 |
158 |
COSM43616
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.704A>G |
p.N235S |
17:7674259-7674259 |
21 |
159 |
COSM44310
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.738G>A |
p.M246I |
17:7674225-7674225 |
21 |
160 |
COSM45751
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.511G>C |
p.E171Q |
17:7675101-7675101 |
21 |
161 |
COSM10724
|
TP53
|
skin,eye,carcinoma,NS
|
c.839G>C |
p.R280T |
17:7673781-7673781 |
21 |
162 |
COSM43778
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.713G>T |
p.C238F |
17:7674250-7674250 |
21 |
163 |
COSM44130
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.477C>T |
p.A159A |
17:7675135-7675135 |
21 |
164 |
COSM43695
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.748C>T |
p.P250S |
17:7674215-7674215 |
21 |
165 |
COSM43842
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.770T>C |
p.L257P |
17:7674193-7674193 |
21 |
166 |
COSM45169
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.326T>C |
p.F109S |
17:7676043-7676043 |
21 |
167 |
COSM11376
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.737T>G |
p.M246R |
17:7674226-7674226 |
21 |
168 |
COSM44606
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.665C>T |
p.P222L |
17:7674866-7674866 |
21 |
169 |
COSM45138
|
TP53
|
skin,NS,carcinoma,basal cell carcinoma
|
c.853G>C |
p.E285Q |
17:7673767-7673767 |
21 |
170 |
COSM45677
|
TP53
|
skin,face,carcinoma,NS
|
c.714T>A |
p.C238* |
17:7674249-7674249 |
21 |
171 |
COSM6927532
|
TGFBR1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1255G>A |
p.G419R |
9:99146609-99146609 |
21 |
172 |
COSM199708
|
TGFBR1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1459C>T |
p.R487W |
9:99149252-99149252 |
21 |
173 |
COSM607136
|
TGFBR1
|
skin,neck,carcinoma,NS
|
c.1247C>T |
p.S416F |
9:99146601-99146601 |
21 |
174 |
COSM166291
|
TET2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.5681C>T |
p.P1894L |
4:105276191-105276191 |
21 |
175 |
COSM3472000
|
TENT5C
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1001C>T |
p.S334F |
1:117623869-117623869 |
21 |
176 |
COSM6926867
|
TCF3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.416C>T |
p.S139F |
19:1625659-1625659 |
21 |
177 |
COSM6912931
|
TBX3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.45G>A |
p.M15I |
12:114683156-114683156 |
21 |
178 |
COSM4462891
|
STK40
|
skin,eye,carcinoma,NS
|
c.1265C>T |
p.S422F |
1:36341798-36341798 |
21 |
179 |
COSM4462893
|
STK40
|
skin,eye,carcinoma,NS
|
c.1265C>T |
p.S422F |
1:36341798-36341798 |
21 |
180 |
COSM51520
|
STK11
|
skin,NS,carcinoma,basal cell carcinoma
|
c.536C>T |
p.P179L |
19:1220444-1220444 |
21 |
181 |
COSM6926864
|
STAT5B
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2347C>T |
p.P783S |
17:42201755-42201755 |
21 |
182 |
COSM1716826
|
STAT5B
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1697G>A |
p.R566Q |
17:42210481-42210481 |
21 |
183 |
COSM1716827
|
STAT5B
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2207C>T |
p.P736L |
17:42202370-42202370 |
21 |
184 |
COSM6936926
|
STAT5A
|
skin,NS,carcinoma,basal cell carcinoma
|
c.286-1G>A |
p.? |
17:42291971-42291971 |
21 |
185 |
COSM6936928
|
STAT3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1286C>T |
p.S429F |
17:42326195-42326195 |
21 |
186 |
COSM6926758
|
SPEN
|
skin,NS,carcinoma,basal cell carcinoma
|
c.8389C>T |
p.P2797S |
1:15934629-15934629 |
21 |
187 |
COSM6009093
|
SPEN
|
skin,eye,carcinoma,NS
|
c.9563C>T |
p.P3188L |
1:15935803-15935803 |
21 |
188 |
COSM6926757
|
SPEN
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1294T>A |
p.F432I |
1:15916178-15916178 |
21 |
189 |
COSM6982915
|
SOX2
|
skin,eye,carcinoma,NS
|
c.237G>A |
p.W79* |
3:181712597-181712597 |
21 |
190 |
COSM3942015
|
SMO
|
skin,NS,carcinoma,basal cell carcinoma
|
c.961G>A |
p.V321M |
7:129206190-129206190 |
21 |
191 |
COSM13146
|
SMO
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1604G>T |
p.W535L |
7:129210500-129210500 |
21 |
192 |
COSM5731073
|
SMO
|
skin,NS,carcinoma,basal cell carcinoma
|
c.842G>T |
p.W281L |
7:129205704-129205704 |
21 |
193 |
COSM6962965
|
SMO
|
skin,neck,carcinoma,NS
|
c.1103C>T |
p.P368L |
7:129206332-129206332 |
21 |
194 |
COSM4413609
|
SMO
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1489G>T |
p.G497W |
7:129210385-129210385 |
21 |
195 |
COSM5775414
|
SMO
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1222A>G |
p.I408V |
7:129206545-129206545 |
21 |
196 |
COSM6909694
|
SMO
|
skin,NS,carcinoma,basal cell carcinoma
|
c.998T>G |
p.V333G |
7:129206227-129206227 |
21 |
197 |
COSM13152
|
SMO
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1685G>A |
p.R562Q |
7:129210997-129210997 |
21 |
198 |
COSM4413608
|
SMO
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1417G>T |
p.D473Y |
7:129209348-129209348 |
21 |
199 |
COSM6951263
|
SMARCD1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.422G>A |
p.R141Q |
12:50087370-50087370 |
21 |
200 |
COSM6912944
|
SMARCA4
|
skin,NS,carcinoma,basal cell carcinoma
|
c.512C>T |
p.P171L |
19:10986345-10986345 |
21 |
201 |
COSM6951276
|
SMARCA4
|
skin,NS,carcinoma,basal cell carcinoma
|
c.170C>T |
p.P57L |
19:10984321-10984321 |
21 |
202 |
COSM6912942
|
SMARCA4
|
skin,NS,carcinoma,basal cell carcinoma
|
c.463G>A |
p.D155N |
19:10986296-10986296 |
21 |
203 |
COSM303247
|
SMARCA4
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3574C>T |
p.R1192C |
19:11033317-11033317 |
21 |
204 |
COSM1226711
|
SMAD2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1266G>A |
p.W422* |
18:47845354-47845354 |
21 |
205 |
COSM6912936
|
SMAD2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.737C>T |
p.P246L |
18:47851321-47851321 |
21 |
206 |
COSM6926879
|
SH2D1A
|
skin,NS,carcinoma,basal cell carcinoma
|
c.192G>A |
p.W64* |
23:124365815-124365815 |
21 |
207 |
COSM6926865
|
RPTOR
|
skin,NS,carcinoma,basal cell carcinoma
|
c.115A>T |
p.I39F |
17:80545744-80545744 |
21 |
208 |
COSM6912934
|
RPTOR
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1606G>C |
p.A536P |
17:80883440-80883440 |
21 |
209 |
COSM6933705
|
RPTOR
|
skin,ear,carcinoma,NS
|
c.8C>A |
p.S3Y |
17:80545637-80545637 |
21 |
210 |
COSM6951261
|
RPS6KB2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.901A>T |
p.K301* |
11:67433442-67433442 |
21 |
211 |
COSM6926838
|
RPS6KA4
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1031C>T |
p.P344L |
11:64365425-64365425 |
21 |
212 |
COSM5925307
|
ROS1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.5479C>T |
p.Q1827* |
6:117326302-117326302 |
21 |
213 |
COSM6926804
|
ROS1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1337C>T |
p.A446V |
6:117389772-117389772 |
21 |
214 |
COSM6926802
|
ROS1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4883G>A |
p.G1628E |
6:117341419-117341419 |
21 |
215 |
COSM229019
|
ROS1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3103C>T |
p.R1035* |
6:117365075-117365075 |
21 |
216 |
COSM6936915
|
ROS1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1262G>A |
p.G421E |
6:117393224-117393224 |
21 |
217 |
COSM5890218
|
ROS1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.5426G>A |
p.G1809E |
6:117326355-117326355 |
21 |
218 |
COSM6953786
|
ROS1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4903-1G>A |
p.? |
6:117341312-117341312 |
21 |
219 |
COSM5538304
|
RNF43
|
skin,eye,carcinoma,NS
|
c.866C>T |
p.S289F |
17:58360235-58360235 |
21 |
220 |
COSM6912908
|
RICTOR
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4666G>A |
p.E1556K |
5:38945036-38945036 |
21 |
221 |
COSM2849898
|
RHOA
|
skin,NS,carcinoma,basal cell carcinoma
|
c.50G>A |
p.G17E |
3:49375540-49375540 |
21 |
222 |
COSM1731707
|
RB1
|
skin,face,carcinoma,NS
|
c.1789C>T |
p.Q597* |
13:48453086-48453086 |
21 |
223 |
COSM6962990
|
RARA
|
skin,neck,carcinoma,NS
|
c.1384C>T |
p.P462S |
17:40356221-40356221 |
21 |
224 |
COSM5468163
|
RAD52
|
skin,eye,carcinoma,NS
|
c.779G>A |
p.R260Q |
12:916430-916430 |
21 |
225 |
COSM6962984
|
RAD52
|
skin,neck,carcinoma,NS
|
c.439G>A |
p.V147M |
12:927173-927173 |
21 |
226 |
COSM6962994
|
PTPRT
|
skin,neck,carcinoma,NS
|
c.1607C>T |
p.S536L |
20:42352239-42352239 |
21 |
227 |
COSM4493086
|
PTPRT
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4108C>T |
p.P1370S |
20:42084776-42084776 |
21 |
228 |
COSM6962992
|
PTPRT
|
skin,neck,carcinoma,NS
|
c.1619G>A |
p.G540E |
20:42352227-42352227 |
21 |
229 |
COSM3546515
|
PTPRT
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2083C>T |
p.L695F |
20:42315779-42315779 |
21 |
230 |
COSM5564171
|
PTPRT
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3424C>T |
p.R1142W |
20:42106818-42106818 |
21 |
231 |
COSM6933707
|
PTPRS
|
skin,ear,carcinoma,NS
|
c.5600A>C |
p.K1867T |
19:5208279-5208279 |
21 |
232 |
COSM6912939
|
PTPRS
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2839C>T |
p.L947F |
19:5222953-5222953 |
21 |
233 |
COSM4646623
|
PTPRS
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2710C>T |
p.R904W |
19:5223082-5223082 |
21 |
234 |
COSM6953794
|
PTPRD
|
skin,NS,carcinoma,basal cell carcinoma
|
c.942A>G |
p.I314M |
9:8521296-8521296 |
21 |
235 |
COSM3395877
|
PTPRD
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3925G>A |
p.E1309K |
9:8449788-8449788 |
21 |
236 |
COSM6962970
|
PTPRD
|
skin,neck,carcinoma,NS
|
c.1736G>A |
p.S579N |
9:8504347-8504347 |
21 |
237 |
COSM5610301
|
PTPRD
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2023G>A |
p.E675K |
9:8500859-8500859 |
21 |
238 |
COSM6926820
|
PTPRD
|
skin,NS,carcinoma,basal cell carcinoma
|
c.5380G>A |
p.D1794N |
9:8331736-8331736 |
21 |
239 |
COSM456125
|
PTPRD
|
skin,neck,carcinoma,NS
|
c.5048C>T |
p.S1683F |
9:8341168-8341168 |
21 |
240 |
COSM6926826
|
PTPRD
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1774G>A |
p.G592S |
9:8504309-8504309 |
21 |
241 |
COSM5610130
|
PTPRD
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2131C>T |
p.P711S |
9:8499838-8499838 |
21 |
242 |
COSM1700914
|
PTPRD
|
skin,neck,carcinoma,NS
|
c.1261C>T |
p.P421S |
9:8518130-8518130 |
21 |
243 |
COSM6912921
|
PTPRD
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2979A>C |
p.K993N |
9:8485838-8485838 |
21 |
244 |
COSM17475
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1292T>A |
p.L431Q |
9:95478110-95478110 |
21 |
245 |
COSM17490
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3584C>T |
p.T1195I |
9:95449289-95449289 |
21 |
246 |
COSM17596
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.863G>A |
p.G288D |
9:95480472-95480472 |
21 |
247 |
COSM29062
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2865C>A |
p.Y955* |
9:95459622-95459622 |
21 |
248 |
COSM96958
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1930C>T |
p.P644S |
9:95469071-95469071 |
21 |
249 |
COSM26356
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.834G>A |
p.W278* |
9:95480501-95480501 |
21 |
250 |
COSM26373
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3499G>A |
p.G1167R |
9:95449891-95449891 |
21 |
251 |
COSM6912923
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3758A>T |
p.Q1253L |
9:95449115-95449115 |
21 |
252 |
COSM29349
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2066C>T |
p.P689L |
9:95468935-95468935 |
21 |
253 |
COSM17474
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2062C>T |
p.Q688* |
9:95468939-95468939 |
21 |
254 |
COSM17489
|
PTCH1
|
skin,face,carcinoma,NS
|
c.3724G>A |
p.E1242K |
9:95449149-95449149 |
21 |
255 |
COSM14456
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2778G>A |
p.W926* |
9:95459709-95459709 |
21 |
256 |
COSM29057
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2713C>T |
p.Q905* |
9:95459774-95459774 |
21 |
257 |
COSM26368
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3046C>T |
p.L1016F |
9:95458135-95458135 |
21 |
258 |
COSM17592
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3605C>T |
p.P1202L |
9:95449268-95449268 |
21 |
259 |
COSM17467
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1726C>T |
p.Q576* |
9:95476036-95476036 |
21 |
260 |
COSM17454
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3340A>T |
p.R1114W |
9:95453587-95453587 |
21 |
261 |
COSM5939959
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.654+1G>A |
p.? |
9:95482133-95482133 |
21 |
262 |
COSM17481
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.709G>A |
p.E237K |
9:95481986-95481986 |
21 |
263 |
COSM26361
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4187G>A |
p.G1396E |
9:95447069-95447069 |
21 |
264 |
COSM1651689
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.250C>T |
p.Q84* |
9:95506551-95506551 |
21 |
265 |
COSM26357
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3153G>A |
p.W1051* |
9:95458028-95458028 |
21 |
266 |
COSM14440
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1093C>T |
p.Q365* |
9:95479122-95479122 |
21 |
267 |
COSM17594
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2287G>A |
p.V763I |
9:95467389-95467389 |
21 |
268 |
COSM96936
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2885G>C |
p.R962T |
9:95459602-95459602 |
21 |
269 |
COSM26378
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1848-1G>A |
p.? |
9:95469154-95469154 |
21 |
270 |
COSM17472
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1249C>T |
p.Q417* |
9:95478153-95478153 |
21 |
271 |
COSM17434
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.523C>T |
p.L175F |
9:95485746-95485746 |
21 |
272 |
COSM26381
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3306+1G>A |
p.? |
9:95456275-95456275 |
21 |
273 |
COSM26364
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1481C>T |
p.S494F |
9:95477569-95477569 |
21 |
274 |
COSM96966
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2561-1G>A |
p.? |
9:95461999-95461999 |
21 |
275 |
COSM17608
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1161G>A |
p.W387* |
9:95479054-95479054 |
21 |
276 |
COSM96957
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.713G>A |
p.G238E |
9:95481982-95481982 |
21 |
277 |
COSM14455
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3590C>T |
p.S1197F |
9:95449283-95449283 |
21 |
278 |
COSM17597
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1977G>A |
p.Q659Q |
9:95469024-95469024 |
21 |
279 |
COSM29068
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1603-1G>A |
p.? |
9:95476160-95476160 |
21 |
280 |
COSM6926831
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.584+1G>A |
p.? |
9:95485684-95485684 |
21 |
281 |
COSM24852
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1615G>T |
p.E539* |
9:95476147-95476147 |
21 |
282 |
COSM1651688
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.451G>A |
p.A151T |
9:95485818-95485818 |
21 |
283 |
COSM17476
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.707G>A |
p.W236* |
9:95481988-95481988 |
21 |
284 |
COSM17456
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1160G>A |
p.W387* |
9:95479055-95479055 |
21 |
285 |
COSM17455
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.666T>A |
p.Y222* |
9:95482029-95482029 |
21 |
286 |
COSM29052
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.724C>T |
p.Q242* |
9:95481971-95481971 |
21 |
287 |
COSM96964
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2588G>A |
p.W863* |
9:95461971-95461971 |
21 |
288 |
COSM6951255
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.785T>A |
p.L262* |
9:95480550-95480550 |
21 |
289 |
COSM17480
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1847G>A |
p.S616N |
9:95469813-95469813 |
21 |
290 |
COSM26365
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.475A>T |
p.I159L |
9:95485794-95485794 |
21 |
291 |
COSM96960
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3592C>T |
p.P1198S |
9:95449281-95449281 |
21 |
292 |
COSM17602
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1922C>T |
p.P641L |
9:95469079-95469079 |
21 |
293 |
COSM1651750
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3169-2A>G |
p.? |
9:95456415-95456415 |
21 |
294 |
COSM17453
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3196G>T |
p.E1066* |
9:95456386-95456386 |
21 |
295 |
COSM26370
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.286A>T |
p.K96* |
9:95506515-95506515 |
21 |
296 |
COSM29054
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.387G>A |
p.W129* |
9:95506414-95506414 |
21 |
297 |
COSM1651687
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2557C>T |
p.Q853* |
9:95467119-95467119 |
21 |
298 |
COSM26369
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1439C>G |
p.S480* |
9:95477611-95477611 |
21 |
299 |
COSM96965
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2812C>T |
p.Q938* |
9:95459675-95459675 |
21 |
300 |
COSM5989692
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4048C>T |
p.R1350W |
9:95447208-95447208 |
21 |
301 |
COSM1651749
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3450-1G>A |
p.? |
9:95449941-95449941 |
21 |
302 |
COSM26372
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2372T>C |
p.I791T |
9:95467304-95467304 |
21 |
303 |
COSM29348
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1450G>A |
p.G484R |
9:95477600-95477600 |
21 |
304 |
COSM96963
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1703C>T |
p.P568L |
9:95476059-95476059 |
21 |
305 |
COSM17459
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2042C>T |
p.P681L |
9:95468959-95468959 |
21 |
306 |
COSM17477
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3487G>A |
p.G1163S |
9:95449903-95449903 |
21 |
307 |
COSM29051
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.478C>T |
p.Q160* |
9:95485791-95485791 |
21 |
308 |
COSM14460
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2364T>A |
p.Y788* |
9:95467312-95467312 |
21 |
309 |
COSM17551
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1396C>T |
p.Q466* |
9:95477654-95477654 |
21 |
310 |
COSM26367
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.445G>T |
p.E149* |
9:95485824-95485824 |
21 |
311 |
COSM96959
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2048C>T |
p.S683F |
9:95468953-95468953 |
21 |
312 |
COSM17548
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3499G>T |
p.G1167W |
9:95449891-95449891 |
21 |
313 |
COSM24853
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1688C>T |
p.A563V |
9:95476074-95476074 |
21 |
314 |
COSM17521
|
PTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1993C>G |
p.R665G |
9:95469008-95469008 |
21 |
315 |
COSM6172265
|
PRDM1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.271C>T |
p.P91S |
6:106095702-106095702 |
21 |
316 |
COSM221754
|
PPP6C
|
skin,eye,carcinoma,NS
|
c.790C>T |
p.R264C |
9:125149801-125149801 |
21 |
317 |
COSM6951271
|
PPM1D
|
skin,NS,carcinoma,basal cell carcinoma
|
c.674G>A |
p.R225K |
17:60623722-60623722 |
21 |
318 |
COSM6926852
|
POLE
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4367C>T |
p.S1456L |
12:132643484-132643484 |
21 |
319 |
COSM6926874
|
POLD1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2096C>T |
p.S699F |
19:50409608-50409608 |
21 |
320 |
COSM40483
|
POLD1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2734C>T |
p.P912S |
19:50415740-50415740 |
21 |
321 |
COSM4543732
|
PLCG2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3430G>A |
p.D1144N |
16:81940008-81940008 |
21 |
322 |
COSM6951268
|
PLCG2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.67G>A |
p.E23K |
16:81786056-81786056 |
21 |
323 |
COSM6962989
|
PLCG2
|
skin,neck,carcinoma,NS
|
c.115G>T |
p.E39* |
16:81786104-81786104 |
21 |
324 |
COSM6971613
|
PIK3R1
|
skin,eye,carcinoma,NS
|
c.608A>G |
p.Y203C |
5:68279707-68279707 |
21 |
325 |
COSM6953790
|
PIK3CG
|
skin,NS,carcinoma,basal cell carcinoma
|
c.785C>T |
p.P262L |
7:106868346-106868346 |
21 |
326 |
COSM6912915
|
PIK3CG
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1024C>T |
p.H342Y |
7:106868585-106868585 |
21 |
327 |
COSM6962963
|
PIK3CG
|
skin,neck,carcinoma,NS
|
c.310G>A |
p.G104R |
7:106867871-106867871 |
21 |
328 |
COSM6926809
|
PIK3CG
|
skin,NS,carcinoma,basal cell carcinoma
|
c.202G>A |
p.E68K |
7:106867763-106867763 |
21 |
329 |
COSM6962964
|
PIK3CG
|
skin,neck,carcinoma,NS
|
c.3227G>A |
p.R1076K |
7:106905305-106905305 |
21 |
330 |
COSM6953791
|
PIK3CG
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3172G>A |
p.G1058R |
7:106905250-106905250 |
21 |
331 |
COSM6056498
|
PIK3CD
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1495G>A |
p.E499K |
1:9720635-9720635 |
21 |
332 |
COSM6926779
|
PIK3CB
|
skin,NS,carcinoma,basal cell carcinoma
|
c.934C>T |
p.P312S |
3:138734672-138734672 |
21 |
333 |
COSM748
|
PIK3CA
|
skin,NS,carcinoma,basal cell carcinoma
|
c.317G>T |
p.G106V |
3:179199142-179199142 |
21 |
334 |
COSM6926866
|
PIK3C3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.313C>T |
p.Q105* |
18:41962544-41962544 |
21 |
335 |
COSM6912935
|
PIK3C3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1216G>A |
p.E406K |
18:42013487-42013487 |
21 |
336 |
COSM6926780
|
PHOX2B
|
skin,NS,carcinoma,basal cell carcinoma
|
c.890C>T |
p.S297L |
4:41745862-41745862 |
21 |
337 |
COSM3212050
|
PDGFRB
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3001C>T |
p.P1001S |
5:150117754-150117754 |
21 |
338 |
COSM6927530
|
PDGFRB
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2890G>A |
p.E964K |
5:150118761-150118761 |
21 |
339 |
COSM6912912
|
PDGFRB
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2596C>T |
p.P866S |
5:150120114-150120114 |
21 |
340 |
COSM6936906
|
PARP1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.232C>T |
p.R78W |
1:226402268-226402268 |
21 |
341 |
COSM6937135
|
NTRK2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1588C>T |
p.P530S |
9:84867386-84867386 |
21 |
342 |
COSM585
|
NRAS
|
skin,face,carcinoma,NS
|
c.183A>T |
p.Q61H |
1:114713907-114713907 |
21 |
343 |
COSM564
|
NRAS
|
skin,NS,carcinoma,basal cell carcinoma
|
c.35G>A |
p.G12D |
1:114716126-114716126 |
21 |
344 |
COSM6903909
|
NRAS
|
skin,face,carcinoma,NS
|
c.443C>T |
p.T148I |
1:114709576-114709576 |
21 |
345 |
COSM574
|
NRAS
|
skin,face,carcinoma,NS
|
c.38G>T |
p.G13V |
1:114716123-114716123 |
21 |
346 |
COSM6921920
|
NPM1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.584C>T |
p.S195F |
5:171400840-171400840 |
21 |
347 |
COSM5609653
|
NOTCH3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2224C>T |
p.P742S |
19:15185329-15185329 |
21 |
348 |
COSM6936931
|
NOTCH3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.6196C>T |
p.P2066S |
19:15161432-15161432 |
21 |
349 |
COSM1667036
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.337C>T |
p.R113* |
1:120005407-120005407 |
21 |
350 |
COSM6903985
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.5524T>C |
p.S1842P |
1:119919569-119919569 |
21 |
351 |
COSM6903873
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.5141G>A |
p.G1714D |
1:119922308-119922308 |
21 |
352 |
COSM6903860
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.4418G>T |
p.W1473L |
1:119925398-119925398 |
21 |
353 |
COSM6903872
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.5140G>A |
p.G1714S |
1:119922309-119922309 |
21 |
354 |
COSM6903828
|
NOTCH2
|
skin,ear,carcinoma,NS
|
c.1378T>C |
p.C460R |
1:119967508-119967508 |
21 |
355 |
COSM6903875
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.5266G>A |
p.E1756K |
1:119921757-119921757 |
21 |
356 |
COSM6903891
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.5942T>C |
p.L1981P |
1:119917750-119917750 |
21 |
357 |
COSM6903836
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.2314T>C |
p.C772R |
1:119953594-119953594 |
21 |
358 |
COSM6903889
|
NOTCH2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.5930-1G>C |
p.? |
1:119917763-119917763 |
21 |
359 |
COSM6903876
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.5449G>A |
p.D1817N |
1:119920259-119920259 |
21 |
360 |
COSM6903853
|
NOTCH2
|
skin,ear,carcinoma,NS
|
c.3578A>G |
p.N1193S |
1:119935549-119935549 |
21 |
361 |
COSM6903835
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.2234G>A |
p.C745Y |
1:119953674-119953674 |
21 |
362 |
COSM6903838
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.2414T>C |
p.L805P |
1:119950789-119950789 |
21 |
363 |
COSM6903848
|
NOTCH2
|
skin,ear,carcinoma,NS
|
c.3304A>G |
p.N1102D |
1:119937890-119937890 |
21 |
364 |
COSM3862408
|
NOTCH2
|
skin,ear,carcinoma,NS
|
c.2504C>T |
p.A835V |
1:119949102-119949102 |
21 |
365 |
COSM6903841
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.2602C>G |
p.Q868E |
1:119948564-119948564 |
21 |
366 |
COSM6903870
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.5006A>G |
p.E1669G |
1:119922443-119922443 |
21 |
367 |
COSM6903855
|
NOTCH2
|
skin,ear,carcinoma,NS
|
c.3697C>T |
p.P1233S |
1:119929171-119929171 |
21 |
368 |
COSM1667039
|
NOTCH2
|
skin,ear,carcinoma,NS
|
c.2839C>T |
p.Q947* |
1:119941668-119941668 |
21 |
369 |
COSM6971611
|
NOTCH2
|
skin,eye,carcinoma,NS
|
c.4091C>T |
p.P1364L |
1:119925725-119925725 |
21 |
370 |
COSM6903823
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.1060A>G |
p.I354V |
1:119969559-119969559 |
21 |
371 |
COSM6903877
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.5468T>C |
p.V1823A |
1:119920240-119920240 |
21 |
372 |
COSM6912888
|
NOTCH2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1109G>A |
p.G370D |
1:119968232-119968232 |
21 |
373 |
COSM6903852
|
NOTCH2
|
skin,ear,carcinoma,NS
|
c.3511T>C |
p.Y1171H |
1:119937293-119937293 |
21 |
374 |
COSM6903986
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.5524T>A |
p.S1842T |
1:119919569-119919569 |
21 |
375 |
COSM6903867
|
NOTCH2
|
skin,ear,carcinoma,NS
|
c.4708G>A |
p.G1570S |
1:119923788-119923788 |
21 |
376 |
COSM5888593
|
NOTCH2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2636C>T |
p.S879F |
1:119948530-119948530 |
21 |
377 |
COSM6903905
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.7097C>T |
p.A2366V |
1:119915625-119915625 |
21 |
378 |
COSM6903894
|
NOTCH2
|
skin,ear,carcinoma,NS
|
c.6607A>G |
p.N2203D |
1:119916115-119916115 |
21 |
379 |
COSM6903880
|
NOTCH2
|
skin,ear,carcinoma,NS
|
c.5560T>C |
p.S1854P |
1:119919533-119919533 |
21 |
380 |
COSM6903887
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.5836A>G |
p.T1946A |
1:119918499-119918499 |
21 |
381 |
COSM6903904
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.7085A>G |
p.D2362G |
1:119915637-119915637 |
21 |
382 |
COSM6903844
|
NOTCH2
|
skin,face,carcinoma,NS
|
c.2987G>A |
p.C996Y |
1:119940751-119940751 |
21 |
383 |
COSM6926759
|
NOTCH2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2027-1G>A |
p.? |
1:119955233-119955233 |
21 |
384 |
COSM6903633
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.3394C>T |
p.R1132C |
9:136508071-136508071 |
21 |
385 |
COSM6926835
|
NOTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3571C>T |
p.P1191S |
9:136507377-136507377 |
21 |
386 |
COSM6903601
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.2609T>C |
p.I870T |
9:136510784-136510784 |
21 |
387 |
COSM6903681
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.4211A>G |
p.E1404G |
9:136505685-136505685 |
21 |
388 |
COSM6903579
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.1714C>A |
p.P572T |
9:136515672-136515672 |
21 |
389 |
COSM6903675
|
NOTCH1
|
skin,ear,carcinoma,NS
|
c.4169C>T |
p.P1390L |
9:136505727-136505727 |
21 |
390 |
COSM6903739
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.5065T>C |
p.S1689P |
9:136503284-136503284 |
21 |
391 |
COSM4855290
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.1400G>A |
p.C467Y |
9:136517793-136517793 |
21 |
392 |
COSM327180
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.5554G>A |
p.D1852N |
9:136501832-136501832 |
21 |
393 |
COSM6903557
|
NOTCH1
|
skin,ear,carcinoma,NS
|
c.1289T>A |
p.I430N |
9:136517904-136517904 |
21 |
394 |
COSM4520346
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.1054G>A |
p.D352N |
9:136518636-136518636 |
21 |
395 |
COSM6903621
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.3154A>C |
p.T1052P |
9:136508887-136508887 |
21 |
396 |
COSM3215909
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.5879T>C |
p.M1960T |
9:136500607-136500607 |
21 |
397 |
COSM6903735
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.5045A>T |
p.N1682I |
9:136503304-136503304 |
21 |
398 |
COSM6951259
|
NOTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.689G>A |
p.G230E |
9:136522903-136522903 |
21 |
399 |
COSM6903569
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.1486A>G |
p.S496G |
9:136517341-136517341 |
21 |
400 |
COSM6903667
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.4132T>C |
p.F1378L |
9:136505764-136505764 |
21 |
401 |
COSM6903517
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.199C>T |
p.P67S |
9:136523921-136523921 |
21 |
402 |
COSM6903519
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.200C>T |
p.P67L |
9:136523920-136523920 |
21 |
403 |
COSM6903513
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.108G>T |
p.K36N |
9:136544056-136544056 |
21 |
404 |
COSM6903703
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.4417G>T |
p.G1473C |
9:136505479-136505479 |
21 |
405 |
COSM6903511
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.65C>G |
p.P22R |
9:136544099-136544099 |
21 |
406 |
COSM139812
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.2468-1G>A |
p.? |
9:136511272-136511272 |
21 |
407 |
COSM6903515
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.113A>G |
p.E38G |
9:136544051-136544051 |
21 |
408 |
COSM6903581
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.1847G>A |
p.G616D |
9:136515539-136515539 |
21 |
409 |
COSM6903637
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.3556G>A |
p.E1186K |
9:136507392-136507392 |
21 |
410 |
COSM6903750
|
NOTCH1
|
skin,ear,carcinoma,NS
|
c.5431A>T |
p.N1811Y |
9:136502042-136502042 |
21 |
411 |
COSM6903721
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.4546T>G |
p.F1516V |
9:136505350-136505350 |
21 |
412 |
COSM6903689
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.4309G>A |
p.G1437R |
9:136505587-136505587 |
21 |
413 |
COSM5609565
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.751G>A |
p.G251S |
9:136519557-136519557 |
21 |
414 |
COSM6903705
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.4417G>A |
p.G1473S |
9:136505479-136505479 |
21 |
415 |
COSM6903788
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.7022C>T |
p.S2341F |
9:136496717-136496717 |
21 |
416 |
COSM6953803
|
NOTCH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1339C>T |
p.P447S |
9:136517854-136517854 |
21 |
417 |
COSM6903599
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.2578G>A |
p.G860S |
9:136511161-136511161 |
21 |
418 |
COSM6903587
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.1903G>A |
p.G635R |
9:136515483-136515483 |
21 |
419 |
COSM99651
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.1093C>T |
p.R365C |
9:136518597-136518597 |
21 |
420 |
COSM6903605
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.2712C>G |
p.C904W |
9:136510681-136510681 |
21 |
421 |
COSM5884808
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.4156C>A |
p.P1386T |
9:136505740-136505740 |
21 |
422 |
COSM6903619
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.3055C>T |
p.Q1019* |
9:136508986-136508986 |
21 |
423 |
COSM6903695
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.4355C>T |
p.P1452L |
9:136505541-136505541 |
21 |
424 |
COSM6903709
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.4424A>C |
p.D1475A |
9:136505472-136505472 |
21 |
425 |
COSM6903741
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.5141T>C |
p.I1714T |
9:136503208-136503208 |
21 |
426 |
COSM6903535
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.968G>T |
p.C323F |
9:136518722-136518722 |
21 |
427 |
COSM6903611
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.2791T>C |
p.C931R |
9:136509911-136509911 |
21 |
428 |
COSM6903629
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.3289C>T |
p.P1097S |
9:136508268-136508268 |
21 |
429 |
COSM6903661
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.4088G>A |
p.C1363Y |
9:136505808-136505808 |
21 |
430 |
COSM6903797
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.7503G>C |
p.Q2501H |
9:136496236-136496236 |
21 |
431 |
COSM6903795
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.7405C>A |
p.P2469T |
9:136496334-136496334 |
21 |
432 |
COSM6903764
|
NOTCH1
|
skin,face,carcinoma,NS
|
c.5932C>T |
p.Q1978* |
9:136500554-136500554 |
21 |
433 |
COSM6903531
|
NOTCH1
|
skin,ear,carcinoma,NS
|
c.866-2A>C |
p.? |
9:136518826-136518826 |
21 |
434 |
COSM2936617
|
NF2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.404C>T |
p.P135L |
22:29642242-29642242 |
21 |
435 |
COSM21991
|
NF2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.169C>T |
p.R57* |
22:29636805-29636805 |
21 |
436 |
COSM6951270
|
NF1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.6099T>A |
p.D2033E |
17:31336425-31336425 |
21 |
437 |
COSM220104
|
NF1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4108C>T |
p.Q1370* |
17:31249117-31249117 |
21 |
438 |
COSM6936905
|
NEGR1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.713G>A |
p.G238E |
1:71611101-71611101 |
21 |
439 |
COSM4559546
|
NEGR1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.809G>A |
p.G270E |
1:71592948-71592948 |
21 |
440 |
COSM6951277
|
NCOA3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.893G>A |
p.R298Q |
20:47633565-47633565 |
21 |
441 |
COSM6962996
|
NCOA3
|
skin,neck,carcinoma,NS
|
c.979C>T |
p.H327Y |
20:47634062-47634062 |
21 |
442 |
COSM6926876
|
NCOA3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.47G>A |
p.R16Q |
20:47622294-47622294 |
21 |
443 |
COSM6953823
|
NCOA3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2302C>T |
p.Q768* |
20:47636688-47636688 |
21 |
444 |
COSM35624
|
MYCN
|
skin,NS,carcinoma,basal cell carcinoma
|
c.131C>T |
p.P44L |
2:15942195-15942195 |
21 |
445 |
COSM6926817
|
MYC
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1127C>T |
p.A376V |
8:127740765-127740765 |
21 |
446 |
COSM6926756
|
MTOR
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4229C>T |
p.P1410L |
1:11199282-11199282 |
21 |
447 |
COSM6912886
|
MTOR
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3418G>C |
p.D1140H |
1:11212455-11212455 |
21 |
448 |
COSM4170532
|
MTOR
|
skin,neck,carcinoma,NS
|
c.3409G>A |
p.E1137K |
1:11212464-11212464 |
21 |
449 |
COSM6951240
|
MTOR
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2020T>A |
p.C674S |
1:11238031-11238031 |
21 |
450 |
COSM261995
|
MGA
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3724C>T |
p.R1242* |
15:41729230-41729230 |
21 |
451 |
COSM6926854
|
MGA
|
skin,NS,carcinoma,basal cell carcinoma
|
c.7537C>T |
p.L2513F |
15:41760521-41760521 |
21 |
452 |
COSM6953828
|
MED12
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2158G>A |
p.G720R |
23:71125078-71125078 |
21 |
453 |
COSM6951285
|
MED12
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3896C>T |
p.S1299F |
23:71130063-71130063 |
21 |
454 |
COSM6912956
|
MED12
|
skin,NS,carcinoma,basal cell carcinoma
|
c.5658G>A |
p.M1886I |
23:71137293-71137293 |
21 |
455 |
COSM6926847
|
MDM2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1276C>T |
p.Q426* |
12:68839631-68839631 |
21 |
456 |
COSM6926859
|
MAPK3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.796C>T |
p.Q266* |
16:30117265-30117265 |
21 |
457 |
COSM516
|
KRAS
|
skin,NS,carcinoma,basal cell carcinoma
|
c.34G>T |
p.G12C |
12:25245351-25245351 |
21 |
458 |
COSM521
|
KRAS
|
skin,face,carcinoma,NS
|
c.35G>A |
p.G12D |
12:25245350-25245350 |
21 |
459 |
COSM6903505
|
KRAS
|
skin,face,carcinoma,NS
|
c.229G>A |
p.G77S |
12:25227295-25227295 |
21 |
460 |
COSM6926841
|
KRAS
|
skin,NS,carcinoma,basal cell carcinoma
|
c.122G>A |
p.R41K |
12:25227402-25227402 |
21 |
461 |
COSM6903500
|
KRAS
|
skin,ear,carcinoma,NS
|
c.5C>T |
p.T2I |
12:25245380-25245380 |
21 |
462 |
COSM553
|
KRAS
|
skin,NS,carcinoma,basal cell carcinoma
|
c.182A>T |
p.Q61L |
12:25227342-25227342 |
21 |
463 |
COSM6926846
|
KMT2D
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3223C>T |
p.P1075S |
12:49048748-49048748 |
21 |
464 |
COSM6909696
|
KMT2D
|
skin,NS,carcinoma,basal cell carcinoma
|
c.14302G>T |
p.E4768* |
12:49026854-49026854 |
21 |
465 |
COSM6907251
|
KMT2D
|
skin,NS,carcinoma,basal cell carcinoma
|
c.15706G>A |
p.E5236K |
12:49022048-49022048 |
21 |
466 |
COSM220680
|
KMT2D
|
skin,NS,carcinoma,basal cell carcinoma
|
c.12796C>T |
p.R4266* |
12:49030958-49030958 |
21 |
467 |
COSM6926844
|
KMT2D
|
skin,NS,carcinoma,basal cell carcinoma
|
c.6893C>T |
p.P2298L |
12:49040067-49040067 |
21 |
468 |
COSM6936919
|
KMT2D
|
skin,NS,carcinoma,basal cell carcinoma
|
c.10537C>T |
p.Q3513* |
12:49033358-49033358 |
21 |
469 |
COSM6926813
|
KMT2C
|
skin,NS,carcinoma,basal cell carcinoma
|
c.6350C>T |
p.S2117F |
7:152181510-152181510 |
21 |
470 |
COSM1087613
|
KMT2C
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3899G>A |
p.R1300K |
7:152205168-152205168 |
21 |
471 |
COSM6926811
|
KMT2C
|
skin,NS,carcinoma,basal cell carcinoma
|
c.6935C>T |
p.S2312F |
7:152180925-152180925 |
21 |
472 |
COSM6912917
|
KMT2C
|
skin,NS,carcinoma,basal cell carcinoma
|
c.14138C>T |
p.P4713L |
7:152145189-152145189 |
21 |
473 |
COSM6912919
|
KMT2C
|
skin,NS,carcinoma,basal cell carcinoma
|
c.12305C>T |
p.S4102F |
7:152152926-152152926 |
21 |
474 |
COSM6962967
|
KMT2C
|
skin,neck,carcinoma,NS
|
c.11659C>T |
p.H3887Y |
7:152158874-152158874 |
21 |
475 |
COSM6962983
|
KMT2A
|
skin,neck,carcinoma,NS
|
c.4377T>G |
p.C1459W |
11:118488658-118488658 |
21 |
476 |
COSM6926781
|
KIT
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2597G>A |
p.G866E |
4:54736721-54736721 |
21 |
477 |
COSM75106
|
KDR
|
skin,NS,carcinoma,basal cell carcinoma
|
c.538G>A |
p.D180N |
4:55114994-55114994 |
21 |
478 |
COSM6953780
|
KDR
|
skin,NS,carcinoma,basal cell carcinoma
|
c.383C>T |
p.S128F |
4:55115387-55115387 |
21 |
479 |
COSM6926782
|
KDR
|
skin,NS,carcinoma,basal cell carcinoma
|
c.367T>G |
p.S123A |
4:55115403-55115403 |
21 |
480 |
COSM6951279
|
KDM6A
|
skin,NS,carcinoma,basal cell carcinoma
|
c.748+2T>G |
p.? |
23:45051804-45051804 |
21 |
481 |
COSM6072631
|
KDM5A
|
skin,eye,carcinoma,NS
|
c.973C>T |
p.P325S |
12:354132-354132 |
21 |
482 |
COSM6912930
|
KDM5A
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1912G>A |
p.E638K |
12:328891-328891 |
21 |
483 |
COSM6926870
|
JAK3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1448C>T |
p.S483F |
19:17838384-17838384 |
21 |
484 |
COSM3099047
|
JAK3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.59C>T |
p.S20F |
19:17844359-17844359 |
21 |
485 |
COSM6936904
|
JAK1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.160G>A |
p.E54K |
1:64883322-64883322 |
21 |
486 |
COSM6953818
|
INSR
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4036G>A |
p.G1346R |
19:7117169-7117169 |
21 |
487 |
COSM6936929
|
INSR
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4012G>T |
p.E1338* |
19:7117193-7117193 |
21 |
488 |
COSM6912902
|
INPP4B
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1084G>A |
p.D362N |
4:142193184-142193184 |
21 |
489 |
COSM137413
|
INPP4B
|
skin,NS,carcinoma,basal cell carcinoma
|
c.407C>T |
p.P136L |
4:142314728-142314728 |
21 |
490 |
COSM6926785
|
INPP4B
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1462C>G |
p.P488A |
4:142160459-142160459 |
21 |
491 |
COSM6982913
|
INPP4A
|
skin,eye,carcinoma,NS
|
c.407G>A |
p.G136E |
2:98536148-98536148 |
21 |
492 |
COSM6912894
|
INPP4A
|
skin,NS,carcinoma,basal cell carcinoma
|
c.764C>T |
p.S255F |
2:98539621-98539621 |
21 |
493 |
COSM6982909
|
IKBKE
|
skin,eye,carcinoma,NS
|
c.537C>A |
p.Y179* |
1:206476359-206476359 |
21 |
494 |
COSM6912896
|
IDH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.679T>G |
p.F227V |
2:208243446-208243446 |
21 |
495 |
COSM6926764
|
IDH1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1013G>A |
p.R338K |
2:208239212-208239212 |
21 |
496 |
COSM6903477
|
HRAS
|
skin,ear,carcinoma,NS
|
c.47A>G |
p.K16R |
11:534276-534276 |
21 |
497 |
COSM483
|
HRAS
|
skin,NS,carcinoma,basal cell carcinoma
|
c.35G>T |
p.G12V |
11:534288-534288 |
21 |
498 |
COSM498
|
HRAS
|
skin,face,carcinoma,NS
|
c.182A>T |
p.Q61L |
11:533874-533874 |
21 |
499 |
COSM490
|
HRAS
|
skin,NS,carcinoma,basal cell carcinoma
|
c.38G>A |
p.G13D |
11:534285-534285 |
21 |
500 |
COSM6903493
|
HRAS
|
skin,face,carcinoma,NS
|
c.409T>G |
p.Y137D |
11:533494-533494 |
21 |
501 |
COSM6903487
|
HRAS
|
skin,face,carcinoma,NS
|
c.205G>C |
p.D69H |
11:533851-533851 |
21 |
502 |
COSM486
|
HRAS
|
skin,NS,carcinoma,basal cell carcinoma
|
c.37G>C |
p.G13R |
11:534286-534286 |
21 |
503 |
COSM6926849
|
HNF1A
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1207C>T |
p.L403F |
12:120996640-120996640 |
21 |
504 |
COSM6438927
|
HGF
|
skin,neck,carcinoma,NS
|
c.974C>T |
p.P325L |
7:81729671-81729671 |
21 |
505 |
COSM6926808
|
HGF
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1492G>A |
p.G498R |
7:81710196-81710196 |
21 |
506 |
COSM6926797
|
H3C2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.205C>T |
p.Q69* |
6:26031856-26031856 |
21 |
507 |
COSM5385593
|
GRIN2A
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4117G>A |
p.D1373N |
16:9763427-9763427 |
21 |
508 |
COSM6936921
|
GREM1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.22G>A |
p.V8M |
15:32730712-32730712 |
21 |
509 |
COSM6669552
|
GATA3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.668C>T |
p.P223L |
10:8058731-8058731 |
21 |
510 |
COSM6933702
|
GATA2
|
skin,ear,carcinoma,NS
|
c.1338C>G |
p.F446L |
3:128481124-128481124 |
21 |
511 |
COSM3597304
|
FOXP1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1876C>T |
p.P626S |
3:70965903-70965903 |
21 |
512 |
COSM6936909
|
FOXP1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1527G>A |
p.W509* |
3:70976944-70976944 |
21 |
513 |
COSM6926768
|
FOXP1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1138C>T |
p.P380S |
3:70988002-70988002 |
21 |
514 |
COSM6951248
|
FOXP1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1196C>T |
p.S399F |
3:70977980-70977980 |
21 |
515 |
COSM6953806
|
FOXO1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.832C>T |
p.Q278* |
13:40560659-40560659 |
21 |
516 |
COSM6936920
|
FLT3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2431G>A |
p.D811N |
13:28018577-28018577 |
21 |
517 |
COSM5542939
|
FLT1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.80C>T |
p.S27L |
13:28467602-28467602 |
21 |
518 |
COSM6951264
|
FLT1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3364C>T |
p.P1122S |
13:28317520-28317520 |
21 |
519 |
COSM6962960
|
FGFR3
|
skin,neck,carcinoma,NS
|
c.2421A>G |
p.*807W |
4:1807262-1807262 |
21 |
520 |
COSM6962980
|
FGFR2
|
skin,neck,carcinoma,NS
|
c.2234C>T |
p.S745F |
10:121483765-121483765 |
21 |
521 |
COSM732369
|
FBXW7
|
skin,eye,carcinoma,NS
|
c.535C>T |
p.R179C |
4:152350091-152350091 |
21 |
522 |
COSM6926793
|
FAT1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4064C>T |
p.P1355L |
4:186636144-186636144 |
21 |
523 |
COSM1054163
|
FAT1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.7789C>T |
p.R2597* |
4:186618797-186618797 |
21 |
524 |
COSM6926792
|
FAT1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4064C>T |
p.P1355L |
4:186636144-186636144 |
21 |
525 |
COSM4005729
|
FAT1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.46C>T |
p.Q16* |
4:186709782-186709782 |
21 |
526 |
COSM6933704
|
FAT1
|
skin,ear,carcinoma,NS
|
c.4810G>A |
p.G1604R |
4:186628154-186628154 |
21 |
527 |
COSM6926790
|
FAT1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.11869C>T |
p.R3957C |
4:186600132-186600132 |
21 |
528 |
COSM6912906
|
FAT1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4323+2T>G |
p.? |
4:186633682-186633682 |
21 |
529 |
COSM4981738
|
FAT1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2527C>T |
p.Q843* |
4:186707301-186707301 |
21 |
530 |
COSM6926788
|
FAT1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.12815C>T |
p.S4272F |
4:186596725-186596725 |
21 |
531 |
COSM4981737
|
FAT1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2527C>T |
p.Q843* |
4:186707301-186707301 |
21 |
532 |
COSM6912905
|
FAT1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4323+2T>G |
p.? |
4:186633682-186633682 |
21 |
533 |
COSM6926789
|
FAT1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.12815C>T |
p.S4272F |
4:186596725-186596725 |
21 |
534 |
COSM6926791
|
FAT1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.11869C>T |
p.R3957C |
4:186600132-186600132 |
21 |
535 |
COSM4005728
|
FAT1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.46C>T |
p.Q16* |
4:186709782-186709782 |
21 |
536 |
COSM6933703
|
FAT1
|
skin,ear,carcinoma,NS
|
c.4810G>A |
p.G1604R |
4:186628154-186628154 |
21 |
537 |
COSM1054161
|
FAT1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.7789C>T |
p.R2597* |
4:186618797-186618797 |
21 |
538 |
COSM6953813
|
FANCA
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4114G>A |
p.D1372N |
16:89739186-89739186 |
21 |
539 |
COSM6951266
|
ERCC4
|
skin,NS,carcinoma,basal cell carcinoma
|
c.949G>A |
p.E317K |
16:13930866-13930866 |
21 |
540 |
COSM6912897
|
ERBB4
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2202+1G>A |
p.? |
2:211623921-211623921 |
21 |
541 |
COSM6926765
|
ERBB4
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1223C>T |
p.P408L |
2:211704170-211704170 |
21 |
542 |
COSM6926778
|
EPHB1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2446G>A |
p.E816K |
3:135241247-135241247 |
21 |
543 |
COSM6926799
|
EPHA7
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1927G>A |
p.E643K |
6:93258282-93258282 |
21 |
544 |
COSM1723966
|
EPHA7
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1393G>A |
p.E465K |
6:93272354-93272354 |
21 |
545 |
COSM6962962
|
EPHA7
|
skin,neck,carcinoma,NS
|
c.2468G>A |
p.G823E |
6:93254711-93254711 |
21 |
546 |
COSM4992793
|
EPHA7
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2059G>A |
p.G687R |
6:93258150-93258150 |
21 |
547 |
COSM6926801
|
EPHA7
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1507A>G |
p.N503D |
6:93269603-93269603 |
21 |
548 |
COSM1430547
|
EPHA5
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1658G>A |
p.R553Q |
4:65414313-65414313 |
21 |
549 |
COSM6912901
|
EPHA5
|
skin,NS,carcinoma,basal cell carcinoma
|
c.733G>A |
p.D245N |
4:65601818-65601818 |
21 |
550 |
COSM6936911
|
EPHA5
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1021G>A |
p.D341N |
4:65495433-65495433 |
21 |
551 |
COSM6953782
|
EPHA5
|
skin,NS,carcinoma,basal cell carcinoma
|
c.881G>A |
p.G294E |
4:65601670-65601670 |
21 |
552 |
COSM6866987
|
EPHA5
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2513G>A |
p.G838E |
4:65348199-65348199 |
21 |
553 |
COSM6953783
|
EPHA5
|
skin,NS,carcinoma,basal cell carcinoma
|
c.719T>G |
p.L240W |
4:65601832-65601832 |
21 |
554 |
COSM6953781
|
EPHA5
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1823C>T |
p.S608F |
4:65377031-65377031 |
21 |
555 |
COSM6926783
|
EPHA5
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2197C>T |
p.H733Y |
4:65365056-65365056 |
21 |
556 |
COSM6926784
|
EPHA5
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2146A>G |
p.K716E |
4:65365107-65365107 |
21 |
557 |
COSM5918388
|
EPHA5
|
skin,neck,carcinoma,NS
|
c.2608G>A |
p.E870K |
4:65348104-65348104 |
21 |
558 |
COSM6936910
|
EPHA5
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1318G>A |
p.E440K |
4:65490461-65490461 |
21 |
559 |
COSM6926771
|
EPHA3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1426G>A |
p.E476K |
3:89395956-89395956 |
21 |
560 |
COSM6926773
|
EPHA3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2182C>T |
p.R728* |
3:89431195-89431195 |
21 |
561 |
COSM6962957
|
EPHA3
|
skin,neck,carcinoma,NS
|
c.632T>A |
p.M211K |
3:89210338-89210338 |
21 |
562 |
COSM6926769
|
EPHA3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1061G>T |
p.R354L |
3:89341845-89341845 |
21 |
563 |
COSM6926774
|
EPHA3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2684C>T |
p.A895V |
3:89450364-89450364 |
21 |
564 |
COSM4527016
|
EPHA3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1435G>A |
p.E479K |
3:89399321-89399321 |
21 |
565 |
COSM6946976
|
EPHA3
|
skin,neck,carcinoma,NS
|
c.533G>A |
p.G178E |
3:89210239-89210239 |
21 |
566 |
COSM6848800
|
DOT1L
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3640C>T |
p.P1214S |
19:2225431-2225431 |
21 |
567 |
COSM6949581
|
DOT1L
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4292C>T |
p.A1431V |
19:2226813-2226813 |
21 |
568 |
COSM6951274
|
DNMT1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2128C>T |
p.P710S |
19:10151487-10151487 |
21 |
569 |
COSM6912932
|
DICER1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4798G>A |
p.E1600K |
14:95096122-95096122 |
21 |
570 |
COSM6953808
|
DICER1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.421G>A |
p.E141K |
14:95131526-95131526 |
21 |
571 |
COSM6926761
|
DDR2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.199G>A |
p.E67K |
1:162754637-162754637 |
21 |
572 |
COSM6951243
|
DDR2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1636G>A |
p.D546N |
1:162772155-162772155 |
21 |
573 |
COSM3046519
|
CUL3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1153C>T |
p.P385S |
2:224506009-224506009 |
21 |
574 |
COSM5662
|
CTNNB1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.110C>T |
p.S37F |
3:41224622-41224622 |
21 |
575 |
COSM6926767
|
CTNNB1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1718G>T |
p.C573F |
3:41235758-41235758 |
21 |
576 |
COSM6971612
|
CTNNB1
|
skin,eye,carcinoma,NS
|
c.1420C>T |
p.R474* |
3:41233763-41233763 |
21 |
577 |
COSM4007517
|
CSF3R
|
skin,NS,carcinoma,basal cell carcinoma
|
c.59C>T |
p.P20L |
1:36479438-36479438 |
21 |
578 |
COSM6926873
|
CIC
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2123G>A |
p.R708K |
19:42290891-42290891 |
21 |
579 |
COSM12476
|
CDKN2A
|
skin,NS,carcinoma,basal cell carcinoma
|
c.341C>T |
p.P114L |
9:21971018-21971018 |
21 |
580 |
COSM13828
|
CDKN2A
|
skin,eye,carcinoma,NS
|
c.149A>G |
p.Q50R |
9:21974679-21974679 |
21 |
581 |
COSM13223
|
CDKN2A
|
skin,face,carcinoma,NS
|
c.151-1G>A |
p.? |
9:21971209-21971209 |
21 |
582 |
COSM13496
|
CDKN2A
|
skin,face,carcinoma,NS
|
c.151G>A |
p.V51I |
9:21971208-21971208 |
21 |
583 |
COSM12506
|
CDKN2A
|
skin,face,carcinoma,NS
|
c.148C>T |
p.Q50* |
9:21974680-21974680 |
21 |
584 |
COSM6936925
|
CDK12
|
skin,NS,carcinoma,basal cell carcinoma
|
c.64C>T |
p.Q22* |
17:39462135-39462135 |
21 |
585 |
COSM6953814
|
CDK12
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1702C>T |
p.P568S |
17:39471534-39471534 |
21 |
586 |
COSM1937734
|
CD276
|
skin,NS,carcinoma,basal cell carcinoma
|
c.904G>A |
p.D302N |
15:73703829-73703829 |
21 |
587 |
COSM3078946
|
CCND3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.848C>T |
p.T283I |
6:41935971-41935971 |
21 |
588 |
COSM6962956
|
CASP8
|
skin,neck,carcinoma,NS
|
c.1382C>T |
p.T461I |
2:201286485-201286485 |
21 |
589 |
COSM3713589
|
CASP8
|
skin,neck,carcinoma,NS
|
c.1093C>T |
p.L365F |
2:201285055-201285055 |
21 |
590 |
COSM6912913
|
CARD11
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2698C>T |
p.L900F |
7:2917295-2917295 |
21 |
591 |
COSM4549748
|
CARD11
|
skin,NS,carcinoma,basal cell carcinoma
|
c.481G>A |
p.D161N |
7:2944415-2944415 |
21 |
592 |
COSM4900080
|
BTK
|
skin,eye,carcinoma,NS
|
c.262G>A |
p.E88K |
23:101371680-101371680 |
21 |
593 |
COSM6971615
|
BRIP1
|
skin,eye,carcinoma,NS
|
c.1463C>T |
p.P488L |
17:61793607-61793607 |
21 |
594 |
COSM6909698
|
BRCA2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4382C>T |
p.S1461F |
13:32338737-32338737 |
21 |
595 |
COSM6926839
|
BIRC3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1604C>T |
p.P535L |
11:102336784-102336784 |
21 |
596 |
COSM6953825
|
BCOR
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4519G>A |
p.D1507N |
23:40055488-40055488 |
21 |
597 |
COSM6971610
|
BARD1
|
skin,eye,carcinoma,NS
|
c.722C>T |
p.S241F |
2:214781152-214781152 |
21 |
598 |
COSM6912900
|
BARD1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1879G>A |
p.G627R |
2:214745091-214745091 |
21 |
599 |
COSM6912954
|
AXL
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1652C>T |
p.S551F |
19:41248788-41248788 |
21 |
600 |
COSM6926878
|
AURKA
|
skin,NS,carcinoma,basal cell carcinoma
|
c.260C>T |
p.P87L |
20:56386316-56386316 |
21 |
601 |
COSM6909699
|
ATRX
|
skin,NS,carcinoma,basal cell carcinoma
|
c.5389G>T |
p.V1797F |
23:77618865-77618865 |
21 |
602 |
COSM21323
|
ATM
|
skin,neck,carcinoma,NS
|
c.1009C>T |
p.R337C |
11:108247071-108247071 |
21 |
603 |
COSM173211
|
ATM
|
skin,NS,carcinoma,basal cell carcinoma
|
c.748C>T |
p.R250* |
11:108244873-108244873 |
21 |
604 |
COSM1235406
|
ATM
|
skin,NS,carcinoma,basal cell carcinoma
|
c.7466C>T |
p.S2489F |
11:108330372-108330372 |
21 |
605 |
COSM6926763
|
ASXL2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1121C>T |
p.S374L |
2:25744436-25744436 |
21 |
606 |
COSM6926842
|
ARID2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.705+1G>A |
p.? |
12:45821488-45821488 |
21 |
607 |
COSM6926807
|
ARID1B
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3433C>T |
p.P1145S |
6:157184372-157184372 |
21 |
608 |
COSM6909693
|
ARID1A
|
skin,NS,carcinoma,basal cell carcinoma
|
c.5834C>T |
p.P1945L |
1:26779732-26779732 |
21 |
609 |
COSM6912887
|
ARID1A
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1954G>A |
p.G652R |
1:26760889-26760889 |
21 |
610 |
COSM6924342
|
ARID1A
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3406+2T>A |
p.? |
1:26771328-26771328 |
21 |
611 |
COSM6951281
|
ARAF
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3G>T |
p.M1I |
23:47562970-47562970 |
21 |
612 |
COSM3562855
|
AR
|
skin,NS,carcinoma,basal cell carcinoma
|
c.712G>A |
p.E238K |
23:67545858-67545858 |
21 |
613 |
COSM6921907
|
AR
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1117G>A |
p.G373R |
23:67546263-67546263 |
21 |
614 |
COSM6982919
|
AR
|
skin,eye,carcinoma,NS
|
c.1883G>A |
p.G628E |
23:67686124-67686124 |
21 |
615 |
COSM6950941
|
APC
|
skin,neck,carcinoma,NS
|
c.536C>T |
p.S179F |
5:112780794-112780794 |
21 |
616 |
COSM1432255
|
APC
|
skin,eye,carcinoma,NS
|
c.3367C>T |
p.Q1123* |
5:112838961-112838961 |
21 |
617 |
COSM1059567
|
APC
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2185C>T |
p.L729F |
5:112837779-112837779 |
21 |
618 |
COSM6912911
|
APC
|
skin,NS,carcinoma,basal cell carcinoma
|
c.518C>T |
p.P173L |
5:112775724-112775724 |
21 |
619 |
COSM6953812
|
ANKRD11
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4070C>T |
p.S1357F |
16:89282472-89282472 |
21 |
620 |
COSM6951283
|
AMER1
|
skin,NS,carcinoma,basal cell carcinoma
|
c.979G>A |
p.G327S |
23:64192308-64192308 |
21 |
621 |
COSM6951246
|
AKT3
|
skin,NS,carcinoma,basal cell carcinoma
|
c.617C>T |
p.P206L |
1:243615106-243615106 |
21 |
622 |
COSM6962953
|
AKT3
|
skin,neck,carcinoma,NS
|
c.1164-1G>A |
p.? |
1:243545598-243545598 |
21 |
623 |
COSM6912952
|
AKT2
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1255C>T |
p.Q419* |
19:40235271-40235271 |
21 |
624 |
COSM1600318
|
|
skin,ear,carcinoma,NS
|
c.702C>A |
p.Y234* |
17:7674261-7674261 |
21 |
625 |
COSM5937391
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1726C>T |
p.Q576* |
9:95476036-95476036 |
21 |
626 |
COSM6172264
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.379C>T |
p.P127S |
6:106095702-106095702 |
21 |
627 |
COSM6953810
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.869C>T |
p.P290L |
16:2058767-2058767 |
21 |
628 |
COSM6962993
|
|
skin,neck,carcinoma,NS
|
c.1619G>A |
p.G540E |
20:42352227-42352227 |
21 |
629 |
COSM6971616
|
|
skin,eye,carcinoma,NS
|
c.1463C>T |
p.P488L |
17:61793607-61793607 |
21 |
630 |
COSM3675533
|
|
skin,face,carcinoma,NS
|
c.375+1G>A |
p.? |
17:7675993-7675993 |
21 |
631 |
COSM6912955
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.5658G>A |
p.M1886I |
23:71137293-71137293 |
21 |
632 |
COSM6982920
|
|
skin,eye,carcinoma,NS
|
c.287G>A |
p.G96E |
23:67686124-67686124 |
21 |
633 |
COSM99602
|
|
skin,neck,carcinoma,NS
|
c.743G>A |
p.R248Q |
17:7674220-7674220 |
21 |
634 |
COSM6903620
|
|
skin,face,carcinoma,NS
|
c.3154A>C |
p.T1052P |
9:136508887-136508887 |
21 |
635 |
COSM6921908
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.547G>A |
p.G183R |
23:67546263-67546263 |
21 |
636 |
COSM6912895
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.764C>T |
p.S255F |
2:98539621-98539621 |
21 |
637 |
COSM6912951
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3083C>T |
p.P1028L |
19:15242986-15242986 |
21 |
638 |
COSM6926816
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1172C>T |
p.A391V |
8:127740765-127740765 |
21 |
639 |
COSM6926837
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1031C>T |
p.P344L |
11:64365425-64365425 |
21 |
640 |
COSM6951254
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.785T>A |
p.L262* |
9:95480550-95480550 |
21 |
641 |
COSM139044
|
|
skin,face,carcinoma,NS
|
c.832C>T |
p.P278S |
17:7673788-7673788 |
21 |
642 |
COSM6903568
|
|
skin,face,carcinoma,NS
|
c.1486A>G |
p.S496G |
9:136517341-136517341 |
21 |
643 |
COSM6951257
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.782T>A |
p.L261* |
9:95480550-95480550 |
21 |
644 |
COSM99667
|
|
skin,face,carcinoma,NS
|
c.307C>T |
p.R103* |
17:7674945-7674945 |
21 |
645 |
COSM139811
|
|
skin,face,carcinoma,NS
|
c.2468-1G>A |
p.? |
9:136511272-136511272 |
21 |
646 |
COSM2744631
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.713G>T |
p.C238F |
17:7674250-7674250 |
21 |
647 |
COSM3701293
|
|
skin,face,carcinoma,NS
|
c.706T>C |
p.Y236H |
17:7674257-7674257 |
21 |
648 |
COSM5542940
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.80C>T |
p.S27L |
13:28467602-28467602 |
21 |
649 |
COSM6985419
|
|
skin,eye,carcinoma,NS
|
c.149A>G |
p.Q50R |
9:21974679-21974679 |
21 |
650 |
COSM1640830
|
|
skin,neck,carcinoma,NS
|
c.743G>A |
p.R248Q |
17:7674220-7674220 |
21 |
651 |
COSM3388183
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.742C>T |
p.R248W |
17:7674221-7674221 |
21 |
652 |
COSM5047027
|
|
skin,ear,carcinoma,NS
|
c.702C>A |
p.Y234* |
17:7674261-7674261 |
21 |
653 |
COSM6903516
|
|
skin,face,carcinoma,NS
|
c.199C>T |
p.P67S |
9:136523921-136523921 |
21 |
654 |
COSM6926806
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3487C>T |
p.P1163S |
6:157184372-157184372 |
21 |
655 |
COSM5752722
|
|
skin,face,carcinoma,NS
|
c.714T>A |
p.C238* |
17:7674249-7674249 |
21 |
656 |
COSM6903530
|
|
skin,ear,carcinoma,NS
|
c.866-2A>C |
p.? |
9:136518826-136518826 |
21 |
657 |
COSM6953802
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1339C>T |
p.P447S |
9:136517854-136517854 |
21 |
658 |
COSM3562856
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.142G>A |
p.E48K |
23:67545858-67545858 |
21 |
659 |
COSM6903694
|
|
skin,face,carcinoma,NS
|
c.4355C>T |
p.P1452L |
9:136505541-136505541 |
21 |
660 |
COSM6936927
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.286-1G>A |
p.? |
17:42291971-42291971 |
21 |
661 |
COSM6962972
|
|
skin,neck,carcinoma,NS
|
c.1727G>A |
p.S576N |
9:8504347-8504347 |
21 |
662 |
COSM3403263
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.713G>T |
p.C238F |
17:7674250-7674250 |
21 |
663 |
COSM6912929
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1912G>A |
p.E638K |
12:328891-328891 |
21 |
664 |
COSM1739746
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.7466C>T |
p.S2489F |
11:108330372-108330372 |
21 |
665 |
COSM6982912
|
|
skin,eye,carcinoma,NS
|
c.407G>A |
p.G136E |
2:98536148-98536148 |
21 |
666 |
COSM1646810
|
|
skin,face,carcinoma,NS
|
c.832C>T |
p.P278S |
17:7673788-7673788 |
21 |
667 |
COSM1679494
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.772G>A |
p.E258K |
17:7674191-7674191 |
21 |
668 |
COSM6909697
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4382C>T |
p.S1461F |
13:32338737-32338737 |
21 |
669 |
COSM6912957
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.5658G>A |
p.M1886I |
23:71137293-71137293 |
21 |
670 |
COSM6926856
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.679T>A |
p.C227S |
16:2056674-2056674 |
21 |
671 |
COSM6962978
|
|
skin,neck,carcinoma,NS
|
c.2237C>T |
p.S746F |
10:121483765-121483765 |
21 |
672 |
COSM6985418
|
|
skin,eye,carcinoma,NS
|
c.149A>G |
p.Q50R |
9:21974679-21974679 |
21 |
673 |
COSM99624
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.713G>T |
p.C238F |
17:7674250-7674250 |
21 |
674 |
COSM5989694
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4045C>T |
p.R1349W |
9:95447208-95447208 |
21 |
675 |
COSM6903618
|
|
skin,face,carcinoma,NS
|
c.3055C>T |
p.Q1019* |
9:136508986-136508986 |
21 |
676 |
COSM6962995
|
|
skin,neck,carcinoma,NS
|
c.1607C>T |
p.S536L |
20:42352239-42352239 |
21 |
677 |
COSM6903796
|
|
skin,face,carcinoma,NS
|
c.7503G>C |
p.Q2501H |
9:136496236-136496236 |
21 |
678 |
COSM6926787
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1462C>G |
p.P488A |
4:142160459-142160459 |
21 |
679 |
COSM99665
|
|
skin,face,carcinoma,NS
|
c.586C>T |
p.R196* |
17:7674945-7674945 |
21 |
680 |
COSM6926830
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.584+1G>A |
p.? |
9:95485684-95485684 |
21 |
681 |
COSM1600319
|
|
skin,ear,carcinoma,NS
|
c.702C>A |
p.Y234* |
17:7674261-7674261 |
21 |
682 |
COSM1640831
|
|
skin,face,carcinoma,NS
|
c.742C>T |
p.R248W |
17:7674221-7674221 |
21 |
683 |
COSM3395759
|
|
skin,face,carcinoma,NS
|
c.148C>T |
p.Q50* |
9:21974680-21974680 |
21 |
684 |
COSM6949580
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4292C>T |
p.A1431V |
19:2226813-2226813 |
21 |
685 |
COSM6903556
|
|
skin,ear,carcinoma,NS
|
c.1289T>A |
p.I430N |
9:136517904-136517904 |
21 |
686 |
COSM6912928
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1344+1G>A |
p.? |
9:95478054-95478054 |
21 |
687 |
COSM6926825
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1774G>A |
p.G592S |
9:8504309-8504309 |
21 |
688 |
COSM1350749
|
|
skin,neck,carcinoma,NS
|
c.1009C>T |
p.R337C |
11:108247071-108247071 |
21 |
689 |
COSM3701296
|
|
skin,face,carcinoma,NS
|
c.427T>C |
p.Y143H |
17:7674257-7674257 |
21 |
690 |
COSM6912953
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1679C>T |
p.S560F |
19:41248788-41248788 |
21 |
691 |
COSM753742
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.507C>T |
p.A169A |
9:21971018-21971018 |
21 |
692 |
COSM6903738
|
|
skin,face,carcinoma,NS
|
c.5065T>C |
p.S1689P |
9:136503284-136503284 |
21 |
693 |
COSM6903967
|
|
skin,ear,carcinoma,NS
|
c.988C>T |
p.L330F |
17:7673540-7673540 |
21 |
694 |
COSM6962951
|
|
skin,neck,carcinoma,NS
|
c.1164-1G>A |
p.? |
1:243545598-243545598 |
21 |
695 |
COSM1087612
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3899G>A |
p.R1300K |
7:152205168-152205168 |
21 |
696 |
COSM6903704
|
|
skin,face,carcinoma,NS
|
c.4417G>A |
p.G1473S |
9:136505479-136505479 |
21 |
697 |
COSM1700913
|
|
skin,neck,carcinoma,NS
|
c.1261C>T |
p.P421S |
9:8518130-8518130 |
21 |
698 |
COSM2744975
|
|
skin,face,carcinoma,NS
|
c.375+1G>A |
p.? |
17:7675993-7675993 |
21 |
699 |
COSM6953819
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4036G>A |
p.G1346R |
19:7117169-7117169 |
21 |
700 |
COSM120006
|
|
skin,face,carcinoma,NS
|
c.463C>T |
p.R155W |
17:7674221-7674221 |
21 |
701 |
COSM1700915
|
|
skin,neck,carcinoma,NS
|
c.1252C>T |
p.P418S |
9:8518130-8518130 |
21 |
702 |
COSM2813735
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3574C>T |
p.R1192C |
19:11033317-11033317 |
21 |
703 |
COSM6951267
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.67G>A |
p.E23K |
16:81786056-81786056 |
21 |
704 |
COSM6962982
|
|
skin,neck,carcinoma,NS
|
c.4377T>G |
p.C1459W |
11:118488658-118488658 |
21 |
705 |
COSM3388175
|
|
skin,ear,carcinoma,NS
|
c.796G>A |
p.G266R |
17:7673824-7673824 |
21 |
706 |
COSM3403258
|
|
skin,ear,carcinoma,NS
|
c.764T>G |
p.I255S |
17:7674199-7674199 |
21 |
707 |
COSM4906064
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.407C>T |
p.P136L |
4:142314728-142314728 |
21 |
708 |
COSM6903598
|
|
skin,face,carcinoma,NS
|
c.2578G>A |
p.G860S |
9:136511161-136511161 |
21 |
709 |
COSM6903966
|
|
skin,ear,carcinoma,NS
|
c.988C>T |
p.L330F |
17:7673540-7673540 |
21 |
710 |
COSM6903919
|
|
skin,face,carcinoma,NS
|
c.260C>A |
p.P87Q |
17:7676109-7676109 |
21 |
711 |
COSM6912916
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.14309C>T |
p.P4770L |
7:152145189-152145189 |
21 |
712 |
COSM129830
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.839G>A |
p.R280K |
17:7673781-7673781 |
21 |
713 |
COSM6903499
|
|
skin,ear,carcinoma,NS
|
c.5C>T |
p.T2I |
12:25245380-25245380 |
21 |
714 |
COSM6903632
|
|
skin,face,carcinoma,NS
|
c.3394C>T |
p.R1132C |
9:136508071-136508071 |
21 |
715 |
COSM1172462
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.772G>A |
p.E258K |
17:7674191-7674191 |
21 |
716 |
COSM3522695
|
|
skin,face,carcinoma,NS
|
c.722C>T |
p.S241F |
17:7674241-7674241 |
21 |
717 |
COSM5610129
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2131C>T |
p.P711S |
9:8499838-8499838 |
21 |
718 |
COSM127094
|
|
skin,face,carcinoma,NS
|
c.317-1G>A |
p.? |
9:21971209-21971209 |
21 |
719 |
COSM254987
|
|
skin,eye,carcinoma,NS
|
c.839G>C |
p.R280T |
17:7673781-7673781 |
21 |
720 |
COSM6903763
|
|
skin,face,carcinoma,NS
|
c.5932C>T |
p.Q1978* |
9:136500554-136500554 |
21 |
721 |
COSM6953787
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4885-1G>A |
p.? |
6:117341312-117341312 |
21 |
722 |
COSM6962950
|
|
skin,neck,carcinoma,NS
|
c.430C>T |
p.P144S |
1:77966737-77966737 |
21 |
723 |
COSM99626
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.713G>T |
p.C238F |
17:7674250-7674250 |
21 |
724 |
COSM1700912
|
|
skin,neck,carcinoma,NS
|
c.1261C>T |
p.P421S |
9:8518130-8518130 |
21 |
725 |
COSM6926872
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1448C>T |
p.S483F |
19:17838384-17838384 |
21 |
726 |
COSM6962991
|
|
skin,neck,carcinoma,NS
|
c.1369C>T |
p.P457S |
17:40356221-40356221 |
21 |
727 |
COSM99020
|
|
skin,neck,carcinoma,NS
|
c.743G>A |
p.R248Q |
17:7674220-7674220 |
21 |
728 |
COSM1637748
|
|
skin,ear,carcinoma,NS
|
c.764T>G |
p.I255S |
17:7674199-7674199 |
21 |
729 |
COSM5989695
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4045C>T |
p.R1349W |
9:95447208-95447208 |
21 |
730 |
COSM6926848
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1276C>T |
p.Q426* |
12:68839631-68839631 |
21 |
731 |
COSM99021
|
|
skin,neck,carcinoma,NS
|
c.464G>A |
p.R155Q |
17:7674220-7674220 |
21 |
732 |
COSM1228951
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2636C>T |
p.S879L |
10:68645365-68645365 |
21 |
733 |
COSM3723938
|
|
skin,ear,carcinoma,NS
|
c.824G>T |
p.C275F |
17:7673796-7673796 |
21 |
734 |
COSM3928055
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3088C>T |
p.R1030* |
6:117365075-117365075 |
21 |
735 |
COSM4271777
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.772G>A |
p.E258K |
17:7674191-7674191 |
21 |
736 |
COSM6962979
|
|
skin,neck,carcinoma,NS
|
c.1967C>T |
p.S656F |
10:121483765-121483765 |
21 |
737 |
COSM6982921
|
|
skin,eye,carcinoma,NS
|
c.1313G>A |
p.G438E |
23:67686124-67686124 |
21 |
738 |
COSM6924343
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.536C>T |
p.P179L |
19:1220444-1220444 |
21 |
739 |
COSM6937551
|
|
skin,eye,carcinoma,NS
|
c.859G>C |
p.E287Q |
17:7673761-7673761 |
21 |
740 |
COSM6971609
|
|
skin,eye,carcinoma,NS
|
c.722C>T |
p.S241F |
2:214781152-214781152 |
21 |
741 |
COSM3378446
|
|
skin,face,carcinoma,NS
|
c.586C>T |
p.R196* |
17:7674945-7674945 |
21 |
742 |
COSM6903494
|
|
skin,face,carcinoma,NS
|
c.409T>G |
p.Y137D |
11:533494-533494 |
21 |
743 |
COSM6912941
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.463G>A |
p.D155N |
19:10986296-10986296 |
21 |
744 |
COSM6936930
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4012G>T |
p.E1338* |
19:7117193-7117193 |
21 |
745 |
COSM6951242
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1636G>A |
p.D546N |
1:162772155-162772155 |
21 |
746 |
COSM6962952
|
|
skin,neck,carcinoma,NS
|
c.1164-1G>A |
p.? |
1:243545598-243545598 |
21 |
747 |
COSM1640847
|
|
skin,face,carcinoma,NS
|
c.586C>T |
p.R196* |
17:7674945-7674945 |
21 |
748 |
COSM6903921
|
|
skin,face,carcinoma,NS
|
c.260C>A |
p.P87Q |
17:7676109-7676109 |
21 |
749 |
COSM6912940
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2827C>T |
p.L943F |
19:5222953-5222953 |
21 |
750 |
COSM6953796
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.933A>G |
p.I311M |
9:8521296-8521296 |
21 |
751 |
COSM6962969
|
|
skin,neck,carcinoma,NS
|
c.1736G>A |
p.S579N |
9:8504347-8504347 |
21 |
752 |
COSM6937553
|
|
skin,eye,carcinoma,NS
|
c.859G>C |
p.E287Q |
17:7673761-7673761 |
21 |
753 |
COSM6962971
|
|
skin,neck,carcinoma,NS
|
c.1706G>A |
p.S569N |
9:8504347-8504347 |
21 |
754 |
COSM1151204
|
|
skin,eye,carcinoma,NS
|
c.901C>T |
p.R301C |
9:125149801-125149801 |
21 |
755 |
COSM1172461
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.772G>A |
p.E258K |
17:7674191-7674191 |
21 |
756 |
COSM1490144
|
|
skin,neck,carcinoma,NS
|
c.3830C>T |
p.S1277F |
9:8341168-8341168 |
21 |
757 |
COSM99666
|
|
skin,face,carcinoma,NS
|
c.190C>T |
p.R64* |
17:7674945-7674945 |
21 |
758 |
COSM120007
|
|
skin,face,carcinoma,NS
|
c.742C>T |
p.R248W |
17:7674221-7674221 |
21 |
759 |
COSM5047026
|
|
skin,ear,carcinoma,NS
|
c.702C>A |
p.Y234* |
17:7674261-7674261 |
21 |
760 |
COSM5884807
|
|
skin,face,carcinoma,NS
|
c.4156C>A |
p.P1386T |
9:136505740-136505740 |
21 |
761 |
COSM6903688
|
|
skin,face,carcinoma,NS
|
c.4309G>A |
p.G1437R |
9:136505587-136505587 |
21 |
762 |
COSM6962959
|
|
skin,neck,carcinoma,NS
|
c.2427A>G |
p.*809W |
4:1807262-1807262 |
21 |
763 |
COSM6962981
|
|
skin,neck,carcinoma,NS
|
c.2228C>T |
p.S743F |
10:121483765-121483765 |
21 |
764 |
COSM1640851
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.524G>A |
p.R175H |
17:7675088-7675088 |
21 |
765 |
COSM3092257
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.341C>T |
p.P114L |
9:21971018-21971018 |
21 |
766 |
COSM4646622
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2713C>T |
p.R905W |
19:5223082-5223082 |
21 |
767 |
COSM6903488
|
|
skin,face,carcinoma,NS
|
c.205G>C |
p.D69H |
11:533851-533851 |
21 |
768 |
COSM6903600
|
|
skin,face,carcinoma,NS
|
c.2609T>C |
p.I870T |
9:136510784-136510784 |
21 |
769 |
COSM6951278
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.748+2T>G |
p.? |
23:45051804-45051804 |
21 |
770 |
COSM6903702
|
|
skin,face,carcinoma,NS
|
c.4417G>T |
p.G1473C |
9:136505479-136505479 |
21 |
771 |
COSM6912920
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2979A>C |
p.K993N |
9:8485838-8485838 |
21 |
772 |
COSM6912924
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.3755A>T |
p.Q1252L |
9:95449115-95449115 |
21 |
773 |
COSM6912926
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1347+1G>A |
p.? |
9:95478054-95478054 |
21 |
774 |
COSM6926812
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.6350C>T |
p.S2117F |
7:152181510-152181510 |
21 |
775 |
COSM2936618
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.404C>T |
p.P135L |
22:29642242-29642242 |
21 |
776 |
COSM6926760
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.199G>A |
p.E67K |
1:162754637-162754637 |
21 |
777 |
COSM6926762
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1901C>T |
p.S634L |
2:25744436-25744436 |
21 |
778 |
COSM6926819
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.4162G>A |
p.D1388N |
9:8331736-8331736 |
21 |
779 |
COSM6926828
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.1765G>A |
p.G589S |
9:8504309-8504309 |
21 |
780 |
COSM6951258
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.689G>A |
p.G230E |
9:136522903-136522903 |
21 |
781 |
COSM6903720
|
|
skin,face,carcinoma,NS
|
c.4546T>G |
p.F1516V |
9:136505350-136505350 |
21 |
782 |
COSM6909695
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.15112G>T |
p.E5038* |
12:49026854-49026854 |
21 |
783 |
COSM3546516
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.2083C>T |
p.L695F |
20:42315779-42315779 |
21 |
784 |
COSM4782284
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.326T>C |
p.F109S |
17:7676043-7676043 |
21 |
785 |
COSM6962966
|
|
skin,neck,carcinoma,NS
|
c.11659C>T |
p.H3887Y |
7:152158874-152158874 |
21 |
786 |
COSM753743
|
|
skin,NS,carcinoma,basal cell carcinoma
|
c.341C>T |
p.P114L |
9:21971018-21971018 |
21 |
787 |
COSM5939960
|
< | |