6
# |
Gene |
Name |
Type |
Significance |
ClinVarId |
dbSNP ID |
GRCh37 Pos |
GRCh38 Pos |
1 |
POT1 |
NM_015450.3(POT1):c.1348G>T (p.Glu450Ter) |
SNV |
risk factor |
209094 |
rs797045169 |
7:124481048-124481048 |
7:124840994-124840994 |
2 |
POT1 |
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs) |
deletion |
Conflicting interpretations of pathogenicity |
209095 |
rs758673417 |
7:124464069-124464070 |
7:124824015-124824016 |
3 |
POT1 |
NM_015450.3(POT1):c.1416T>G (p.Ser472Arg) |
SNV |
Uncertain significance |
475044 |
rs146643991 |
7:124475422-124475422 |
7:124835368-124835368 |
4 |
POT1 |
NM_015450.3(POT1):c.283G>T (p.Gly95Cys) |
SNV |
Uncertain significance |
209093 |
rs797045168 |
7:124503667-124503667 |
7:124863613-124863613 |
UniProtKB/Swiss-Prot genetic disease variations for Glioma Susceptibility 9:
73
Cosmic variations for Glioma Susceptibility 9:
9
(show top 50)
(show all 19971)
# |
Cosmic Mut ID |
Gene Symbol |
COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype) |
Mutation CDS |
Mutation AA |
GRCh38 Location |
Conf |
1 |
COSM85192834 |
ZW10 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.2140C>T |
p.P714S |
11:113736699-113736699 |
3 |
2 |
COSM86922763 |
ZSWIM4 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.266C>T |
p.P89L |
19:13799832-13799832 |
3 |
3 |
COSM88263742 |
ZRSR2 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.340C>T |
p.Q114* |
23:15804138-15804138 |
3 |
4 |
COSM88261602 |
ZRSR2 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.961C>T |
p.P321S |
23:15822754-15822754 |
3 |
5 |
COSM88263021 |
ZRSR2 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.260G>A |
p.R87K |
23:15803744-15803744 |
3 |
6 |
COSM88261596 |
ZRSR2 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.271G>A |
p.E91K |
23:15803755-15803755 |
3 |
7 |
COSM88262556 |
ZRSR2 |
central nervous system,NS,glioma,oligodendroglioma
|
c.220G>A |
p.E74K |
23:15803704-15803704 |
3 |
8 |
COSM87830624 |
ZPLD1 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.393A>T |
p.G131= |
3:102456210-102456210 |
3 |
9 |
COSM106156998 |
ZNF697 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.1550G>A |
p.G517D |
1:119622793-119622793 |
3 |
10 |
COSM93171584 |
ZNF687 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.3651C>T |
p.T1217= |
1:151291146-151291146 |
3 |
11 |
COSM93173649 |
ZNF687 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.2044T>A |
p.C682S |
1:151288335-151288335 |
3 |
12 |
COSM93173639 |
ZNF687 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.2043G>C |
p.Q681H |
1:151288334-151288334 |
3 |
13 |
COSM91851905 |
ZNF507 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.1517G>C |
p.R506T |
19:32354347-32354347 |
3 |
14 |
COSM141790125 |
ZNF473 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.42C>T |
p.D14= |
19:50039193-50039193 |
3 |
15 |
COSM116582422 |
ZMYND8 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.2176G>A |
p.D726N |
20:47246116-47246116 |
3 |
16 |
COSM116576154 |
ZMYND8 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.2162T>G |
p.V721G |
20:47246130-47246130 |
3 |
17 |
COSM143109865 |
ZMYM2 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.1134-1G>T |
p.? |
13:20005073-20005073 |
3 |
18 |
COSM85100068 |
ZMAT4 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.76G>A |
p.E26K |
8:40825601-40825601 |
3 |
19 |
COSM149300699 |
ZFHX3 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.8198G>A |
p.R2733H |
16:72794484-72794484 |
3 |
20 |
COSM149299313 |
ZFHX3 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.145C>T |
p.P49S |
16:72960001-72960001 |
3 |
21 |
COSM149332069 |
ZFHX3 |
central nervous system,NS,glioma,oligodendroglioma
|
c.2680G>A |
p.D894N |
16:72957466-72957466 |
3 |
22 |
COSM149314219 |
ZFHX3 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.1819G>A |
p.E607K |
16:72958327-72958327 |
3 |
23 |
COSM149332063 |
ZFHX3 |
central nervous system,NS,glioma,oligodendroglioma
|
c.9154G>A |
p.V3052I |
16:72793528-72793528 |
3 |
24 |
COSM149268215 |
ZFHX3 |
central nervous system,NS,glioma,oligodendroglioma
|
c.6025T>C |
p.Y2009H |
16:72796657-72796657 |
3 |
25 |
COSM149261414 |
ZFHX3 |
central nervous system,NS,glioma,oligodendroglioma
|
c.8300G>A |
p.G2767E |
16:72794382-72794382 |
3 |
26 |
COSM149332473 |
ZFHX3 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.4279G>A |
p.A1427T |
16:72798403-72798403 |
3 |
27 |
COSM149260463 |
ZFHX3 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.8647A>G |
p.M2883V |
16:72794035-72794035 |
3 |
28 |
COSM149318917 |
ZFHX3 |
central nervous system,NS,glioma,oligodendroglioma
|
c.8600C>T |
p.S2867F |
16:72794082-72794082 |
3 |
29 |
COSM149322400 |
ZFHX3 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.934G>A |
p.D312N |
16:72959212-72959212 |
3 |
30 |
COSM149332483 |
ZFHX3 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.461G>A |
p.G154E |
16:72959685-72959685 |
3 |
31 |
COSM149301326 |
ZFHX3 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.3607G>T |
p.E1203* |
16:72811961-72811961 |
3 |
32 |
COSM149290610 |
ZFHX3 |
central nervous system,NS,glioma,oligodendroglioma
|
c.3986G>A |
p.G1329E |
16:72798696-72798696 |
3 |
33 |
COSM99901198 |
ZFC3H1 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.1055G>A |
p.S352N |
12:71647774-71647774 |
3 |
34 |
COSM101569963 |
ZFAT |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.1042G>A |
p.V348M |
8:134602677-134602677 |
3 |
35 |
COSM95277357 |
ZEB1 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.1916C>T |
p.S639L |
10:31521248-31521248 |
3 |
36 |
COSM103622530 |
ZC3H6 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.2254G>T |
p.G752* |
2:112331172-112331172 |
3 |
37 |
COSM91491845 |
ZBTB4 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.2842C>T |
p.L948F |
17:7462140-7462140 |
3 |
38 |
COSM84837968 |
ZBTB24 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.1886C>T |
p.P629L |
6:109466059-109466059 |
3 |
39 |
COSM90915425 |
ZBTB21 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.997G>A |
p.G333S |
21:41993099-41993099 |
3 |
40 |
COSM90305990 |
ZBTB16 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.413C>T |
p.A138V |
11:114063713-114063713 |
3 |
41 |
COSM143644232 |
ZAN |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.7726G>A |
p.D2576N |
7:100792418-100792418 |
3 |
42 |
COSM143637592 |
ZAN |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.5014T>A |
p.Y1672N |
7:100767984-100767984 |
3 |
43 |
COSM84602556 |
YWHAH |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.169C>T |
p.R57* |
22:31956220-31956220 |
3 |
44 |
COSM84307194 |
YTHDC2 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.782C>T |
p.A261V |
5:113532985-113532985 |
3 |
45 |
COSM152021881 |
YES1 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.832C>T |
p.R278* |
18:743308-743308 |
3 |
46 |
COSM152022185 |
YES1 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.1153G>A |
p.A385T |
18:736946-736946 |
3 |
47 |
COSM152022282 |
YES1 |
central nervous system,NS,glioma,oligodendroglioma
|
c.259G>C |
p.A87P |
18:756569-756569 |
3 |
48 |
COSM143036122 |
YAP1 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.538G>A |
p.A180T |
11:102114360-102114360 |
3 |
49 |
COSM143035411 |
YAP1 |
central nervous system,NS,glioma,astrocytoma Grade IV
|
c.1181C>T |
p.T394I |
11:102227474-102227474 |
3 |
50 |
COSM143036045 |
YAP1 |
central nervous system,NS,glioma,oligodendroglioma
|
c.1024G>A |
p.A342T |
11:102209544-102209544 |
3 |
|