Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q9Y6Y8

Entry ID Method Resolution Chain Position Source
AF-Q9Y6Y8-F1 Predicted AlphaFoldDB

804 variants for Q9Y6Y8

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1238092880
CA378313690
2 A>P No ClinGen
gnomAD
rs770893573
CA5718153
4 R>G No ClinGen
ExAC
gnomAD
rs544398633
CA214273255
6 P>L No ClinGen
1000Genomes
CA5718154
rs370151201
7 N>K No ClinGen
ESP
ExAC
gnomAD
CA378313763
rs1224047952
7 N>S No ClinGen
TOPMed
gnomAD
CA378313761
rs1224047952
7 N>T No ClinGen
TOPMed
gnomAD
rs1466750858
CA378313779
8 G>A No ClinGen
gnomAD
rs764094337
CA5718156
10 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1202268467
CA378313814
11 G>R No ClinGen
TOPMed
CA378313841
rs1440497106
12 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA214273274
rs147086838
13 A>G No ClinGen
ESP
ExAC
gnomAD
CA5718160
rs147086838
13 A>V No ClinGen
ESP
ExAC
gnomAD
CA5718161
rs755848243
14 S>A No ClinGen
ExAC
gnomAD
rs920602947
CA378313867
15 T>A No ClinGen
gnomAD
CA5718163
rs779418870
15 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs920602947
CA214273283
15 T>P No ClinGen
gnomAD
CA5718162
rs779418870
15 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs748475932
CA5718166
16 S>F No ClinGen
ExAC
gnomAD
rs1337377203
CA378313908
17 S>L No ClinGen
gnomAD
CA378313928
COSM3790522
rs1442393779
18 S>L Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA5718168
rs564173559
19 G>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5718167
rs564173559
19 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5718170
rs747183944
23 L>I No ClinGen
ExAC
gnomAD
rs771249885
CA5718171
24 F>L No ClinGen
ExAC
gnomAD
CA5718172
rs776505630
24 F>L No ClinGen
ExAC
gnomAD
TCGA novel 25 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759671793
CA5718173
26 S>F No ClinGen
ExAC
gnomAD
CA378314152
rs1362559489
26 S>P No ClinGen
Ensembl
CA5718175
rs774300336
27 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs539365765
CA214273395
28 A>D No ClinGen
gnomAD
rs759175374
CA5718176
29 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs374867948
CA214273399
31 F>L No ClinGen
ESP
TOPMed
rs767281772
CA5718177
32 S>R No ClinGen
ExAC
gnomAD
rs750280458
CA5718178
33 F>L No ClinGen
ExAC
gnomAD
CA378314420
rs1423005193
34 N>K No ClinGen
TOPMed
CA5718179
rs143533688
34 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1311856431
CA378314523
39 P>A No ClinGen
gnomAD
CA378314537
rs1353146384
39 P>L No ClinGen
TOPMed
gnomAD
rs779522024
CA5718184
41 T>N No ClinGen
ExAC
gnomAD
CA378314552
rs1589815598
41 T>P No ClinGen
Ensembl
CA378314568
rs1419566937
42 Q>E No ClinGen
TOPMed
TCGA novel 43 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378314612
rs1589815609
44 S>A No ClinGen
Ensembl
rs533246025
CA5718185
44 S>F No ClinGen
1000Genomes
ExAC
gnomAD
rs73357833
CA5718187
45 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs73357833
CA5718186
RCV000962075
45 A>T No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs747402080
CA5718188
46 S>F No ClinGen
ExAC
CA5718189
rs368504293
47 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 48 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745892335
CA5718191
49 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1564900054
CA378314735
50 L>R No ClinGen
Ensembl
TCGA novel 55 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5718219
rs759256309
57 S>F No ClinGen
ExAC
gnomAD
rs1046591752
CA214276006
58 T>I No ClinGen
Ensembl
rs764985881
CA5718220
60 V>A No ClinGen
ExAC
gnomAD
rs775080315
CA5718221
61 G>C No ClinGen
ExAC
gnomAD
CA5718222
rs368275979
68 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764465785
CA5718223
70 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1261381929
CA378316686
71 S>A No ClinGen
gnomAD
rs201081222
CA214276022
72 I>F No ClinGen
1000Genomes
ExAC
gnomAD
rs201081222
CA5718225
72 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1484103424
CA378316699
73 H>R No ClinGen
TOPMed
rs767914857
CA5718226
74 T>A No ClinGen
ExAC
gnomAD
rs750824114
CA378316711
75 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA5718227
rs750824114
75 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA214276030
rs372484711
76 A>V No ClinGen
ESP
TOPMed
rs1191527307
CA378316729
78 Q>R No ClinGen
gnomAD
CA5718228
rs756264316
79 T>A No ClinGen
ExAC
gnomAD
CA378316764
rs1160925484
83 F>Y No ClinGen
gnomAD
rs113508471
CA214276040
84 S>P No ClinGen
gnomAD
CA378316769
rs113508471
84 S>T No ClinGen
gnomAD
CA378316779
rs1554911281
85 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA214276042
rs375132088
89 S>N No ClinGen
ESP
TOPMed
CA378316808
rs1218680898
89 S>R No ClinGen
TOPMed
CA378316815
rs1437868071
90 S>I No ClinGen
gnomAD
rs1316817348
CA378316905
95 N>Y No ClinGen
TOPMed
CA378316956
rs1398378922
96 I>T No ClinGen
TOPMed
CA378316944
rs1297951933
96 I>V No ClinGen
TOPMed
gnomAD
rs200026652
CA5718231
97 G>E No ClinGen
1000Genomes
ExAC
gnomAD
CA214276044
rs1016545274
97 G>R No ClinGen
TOPMed
gnomAD
rs778900336
CA5718232
99 S>* No ClinGen
ExAC
gnomAD
CA378317000
rs778900336
99 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1289237000
CA378317026
100 P>R No ClinGen
gnomAD
CA5718235
rs780973134
104 A>T No ClinGen
ExAC
CA378317132
rs1160737342
104 A>V No ClinGen
TOPMed
gnomAD
CA5718236
rs183178325
108 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs769520571
CA5718237
110 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs1479542315
CA378317338
111 S>L No ClinGen
gnomAD
CA378317441
rs1178524112
114 P>L No ClinGen
gnomAD
CA5718240
rs768186829
116 P>S No ClinGen
ExAC
gnomAD
CA214276071
rs768186829
116 P>T No ClinGen
ExAC
gnomAD
CA5718241
rs773788768
119 A>T No ClinGen
ExAC
CA5718242
rs762381006
119 A>V No ClinGen
ExAC
gnomAD
CA5718243
rs767919384
120 L>F No ClinGen
ExAC
gnomAD
rs1589820645
CA378317581
121 P>S No ClinGen
Ensembl
rs750731110
CA5718244
123 T>P No ClinGen
ExAC
gnomAD
CA5718245
rs369236648
123 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5718246
rs766550052
124 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1463874253
CA378317755
129 V>F No ClinGen
gnomAD
rs1463874253
CA378317748
129 V>I No ClinGen
gnomAD
CA378317770
rs1308823836
130 S>A No ClinGen
gnomAD
rs754030710
CA5718247
130 S>L No ClinGen
ExAC
gnomAD
rs1295192616
CA378317810
131 N>S No ClinGen
gnomAD
rs967263336
CA214276086
133 F>L No ClinGen
TOPMed
CA5718252
rs781011662
137 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs757160158
CA5718251
137 I>V No ClinGen
ExAC
gnomAD
rs745617525
COSM915428
CA5718253
138 S>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA214276098
rs112497021
139 K>R No ClinGen
Ensembl
CA378318015
rs1485132390
140 A>G No ClinGen
gnomAD
CA5718258
rs773848807
143 G>D No ClinGen
ExAC
gnomAD
rs761245409
CA5718259
144 A>T No ClinGen
ExAC
gnomAD
TCGA novel 145 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378318152
rs1393208284
149 L>M No ClinGen
gnomAD
CA5718262
rs201078544
149 L>P No ClinGen
1000Genomes
ExAC
gnomAD
rs201078544
CA5718263
149 L>R No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 150 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754259680
CA5718264
150 M>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 151 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs972452080
CA214276112
151 G>R No ClinGen
TOPMed
rs1394610654
CA378318218
151 G>V No ClinGen
TOPMed
CA5718265
rs759736376
152 I>V No ClinGen
ExAC
gnomAD
CA378318305
rs1330720573
155 Y>F No ClinGen
TOPMed
gnomAD
CA378318293
rs1295304116
155 Y>H No ClinGen
TOPMed
rs752771895
CA5718267
157 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs752771895
CA5718268
157 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs778036806
CA5718269
158 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA378318377
rs1287226925
159 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs750360419
CA378318417
160 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs750360419
CA5718270
160 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA5718271
rs759221299
161 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA378318522
rs1564904101
165 P>T No ClinGen
Ensembl
rs1325434672
CA378318622
168 F>S No ClinGen
TOPMed
gnomAD
rs1220976810
CA378318660
170 N>D No ClinGen
TOPMed
CA378318685
rs374827304
170 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1310359074
CA378318690
171 Q>E No ClinGen
TOPMed
CA5718274
rs754603111
171 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA5718276
rs778456875
173 Q>L No ClinGen
ExAC
gnomAD
CA5718275
rs778456875
173 Q>R No ClinGen
ExAC
gnomAD
rs1442457341
CA378318782
174 G>R No ClinGen
gnomAD
CA5718277
rs36060726
177 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA378318872
rs1564904158
178 P>A No ClinGen
Ensembl
rs772758265
CA5718278
180 Y>C No ClinGen
ExAC
gnomAD
rs771496090
CA5718280
182 P>L No ClinGen
ExAC
gnomAD
CA5718279
rs143574649
182 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA214276143
rs750315435
183 Y>C No ClinGen
TOPMed
gnomAD
CA214276147
rs145997043
184 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5718282
rs145997043
184 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA214276156
rs979017697
184 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA378319055
rs979017697
184 R>L No ClinGen
TOPMed
gnomAD
rs765459111
CA5718283
185 H>R No ClinGen
ExAC
gnomAD
rs775542426
CA5718284
186 T>I No ClinGen
ExAC
gnomAD
CA378319193
rs1438483179
187 P>H No ClinGen
TOPMed
gnomAD
rs1438483179
CA378319211
187 P>L No ClinGen
TOPMed
gnomAD
rs1438483179
CA378319198
187 P>R No ClinGen
TOPMed
gnomAD
rs763280855
CA5718285
188 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs36069446
CA5718286
189 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756052926
CA5718289
192 A>V No ClinGen
ExAC
gnomAD
CA378319501
rs199535211
194 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA378319512
rs1252952185
194 P>L No ClinGen
gnomAD
CA5718290
rs199535211
194 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199535211
CA5718291
194 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5718292
rs754765272
196 I>T No ClinGen
ExAC
gnomAD
CA5718293
rs568328574
197 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs201464386
CA5718294
197 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201822611
CA5718295
198 P>S No ClinGen
ExAC
gnomAD
CA5718296
rs777262288
199 P>S No ClinGen
ExAC
gnomAD
CA5718297
rs777262288
199 P>T No ClinGen
ExAC
gnomAD
CA5718299
rs777153877
200 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1393601928
CA378319831
202 Q>R No ClinGen
gnomAD
rs557388670
CA5718300
CA378319880
203 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA378319954
rs1325266185
204 C>W No ClinGen
gnomAD
CA378319991
rs1331536804
206 T>I No ClinGen
gnomAD
rs1287390718
CA378319989
206 T>S No ClinGen
TOPMed
rs369804173
CA5718301
207 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5718306
rs764413416
209 P>L No ClinGen
ExAC
RCV000951289
CA5718305
rs148955366
209 P>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1228437079
CA378320117
210 P>H No ClinGen
gnomAD
CA5718307
rs192832539
211 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA378320191
rs1589821057
212 H>R No ClinGen
Ensembl
CA378320211
rs1564904364
213 P>A No ClinGen
Ensembl
CA214276193
rs755625808
214 P>L No ClinGen
Ensembl
rs1564904370
CA378320231
214 P>S No ClinGen
Ensembl
CA5718308
rs572970614
218 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs572970614
CA378320358
218 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA214276196
rs949444028
218 P>T No ClinGen
Ensembl
CA5718309
rs202126862
219 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA378320414
rs1464024733
221 Q>H No ClinGen
gnomAD
rs1179860627
CA378320422
222 M>L No ClinGen
gnomAD
CA5718310
rs753690885
223 Y>D No ClinGen
ExAC
TOPMed
gnomAD
rs764927384
CA5718312
224 Q>H No ClinGen
ExAC
gnomAD
CA5718311
rs754992467
224 Q>R No ClinGen
ExAC
gnomAD
rs1471768718
CA378320511
225 M>I No ClinGen
gnomAD
CA5718313
rs752606402
225 M>V No ClinGen
ExAC
gnomAD
rs757980627
CA5718314
226 P>S No ClinGen
ExAC
gnomAD
CA5718315
rs201448611
227 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5718316
rs751027884
228 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA378320565
rs1409183116
CA378320560
228 G>R No ClinGen
TOPMed
gnomAD
CA378320579
rs751027884
228 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA5718317
rs756728400
231 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs770395338 232 P>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA378320619
rs541985104
232 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5718319
rs746343782
232 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs541985104
CA5718318
232 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5718333
rs201281165
233 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs756956866
CA5718334
235 S>A No ClinGen
ExAC
gnomAD
rs1278490132
COSM1225064
CA378322162
235 S>Y large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs960109985
CA378322171
236 S>* No ClinGen
TOPMed
rs960109985
CA214277036
236 S>L No ClinGen
TOPMed
rs571673819
CA5718336
240 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs780559466
CA5718335
240 P>S No ClinGen
ExAC
gnomAD
CA5718337
rs34157476
241 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1186596091
CA378322245
242 Q>* No ClinGen
gnomAD
CA378322249
rs780636062
242 Q>P No ClinGen
ExAC
gnomAD
rs780636062
CA5718338
242 Q>R No ClinGen
ExAC
gnomAD
CA378322280
rs1449869635
244 Q>R No ClinGen
gnomAD
rs1355419705
CA378322292
CA378322294
245 V>L No ClinGen
TOPMed
rs1420700901
CA378322304
246 P>S No ClinGen
gnomAD
rs916068456
CA214277044
247 A>S No ClinGen
gnomAD
rs916068456
CA214277042
247 A>T No ClinGen
gnomAD
CA378322326
rs1412120045
247 A>V No ClinGen
TOPMed
CA378322330
rs1351327121
248 R>G No ClinGen
TOPMed
CA378322350
rs1467304983
249 P>S No ClinGen
gnomAD
TCGA novel 251 A>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5718341
rs200526391
253 S>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA378322414
rs200526391
253 S>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs142266445
CA5718342
254 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378322425
rs1564906898
254 V>G No ClinGen
Ensembl
CA378322416
rs142266445
254 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5718343
rs772404835
259 P>L No ClinGen
ExAC
gnomAD
CA5718344
rs147968488
260 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1314147454
CA378322518
260 F>L No ClinGen
gnomAD
rs779368100
CA214277053
263 Q>R No ClinGen
gnomAD
rs762926708
CA5718348
265 Q>H No ClinGen
ExAC
gnomAD
CA5718349
rs763862814
266 Y>* No ClinGen
ExAC
CA5718352
rs767211149
267 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs147102546
CA5718350
267 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5718351
rs761385230
267 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA5718353
rs749851170
268 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs755683666
CA5718354
269 V>L No ClinGen
ExAC
gnomAD
CA378322689
rs1362656676
271 P>L No ClinGen
gnomAD
CA378322685
rs1362656676
271 P>R No ClinGen
gnomAD
CA378322681
rs1435742395
271 P>S No ClinGen
TOPMed
rs370696927
CA5718355
272 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1213816877
CA660695205
273 W>* No ClinGen
TOPMed
rs1389984216
CA378322778
277 K>E No ClinGen
gnomAD
rs754377737
CA5718356
277 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs748529309
CA5718360
286 M>I No ClinGen
ExAC
gnomAD
rs1348664824
CA378323112
291 F>S No ClinGen
gnomAD
CA5718362
rs778085621
292 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA378323194
rs1237102717
295 N>S No ClinGen
TOPMed
CA378323211
rs1329761365
296 L>V No ClinGen
gnomAD
rs747233017
CA5718363
299 I>M No ClinGen
ExAC
gnomAD
rs771020868
CA5718364
300 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs776748723
CA5718365
301 N>K No ClinGen
ExAC
gnomAD
rs749215753
CA5718366
302 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs768527941
CA5718385
304 Q>R No ClinGen
ExAC
gnomAD
COSM3396946
rs147722288
CA5718388
307 P>L central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA378323662
rs147722288
307 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5718387
rs774300562
307 P>S No ClinGen
ExAC
gnomAD
rs774300562
CA5718386
307 P>T No ClinGen
ExAC
gnomAD
CA214277260
rs370472966
308 E>Q No ClinGen
ESP
TOPMed
rs1308882382
CA378323701
309 S>I No ClinGen
gnomAD
rs759140837
CA5718393
310 V>A No ClinGen
ExAC
gnomAD
rs759140837
CA378323732
310 V>E No ClinGen
ExAC
gnomAD
rs776224093
CA5718392
COSM167113
310 V>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5718395
rs114941955
311 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5718396
rs566023067
313 G>D No ClinGen
1000Genomes
ExAC
gnomAD
rs1230092042
CA378323777
314 T>A No ClinGen
gnomAD
CA214277267
rs150120116
314 T>M No ClinGen
ESP
TOPMed
gnomAD
rs1402301002
CA378323793
315 D>Y No ClinGen
TOPMed
CA5718398
rs751870295
COSM3934952
318 R>C oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1432632385
CA378323877
320 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 321 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1246513281
CA378323894
321 V>I No ClinGen
gnomAD
CA214277272
rs979084285
322 Y>C No ClinGen
gnomAD
rs374455323
CA5718399
324 Y>C No ClinGen
ESP
ExAC
gnomAD
rs1451743819
CA378323930
324 Y>H No ClinGen
gnomAD
TCGA novel 325 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA214277274
rs60602972
325 D>G No ClinGen
1000Genomes
rs781412500
CA5718400
326 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs1413034560
CA378323963
326 R>Q No ClinGen
TOPMed
gnomAD
rs1193764103
CA378324045
332 Y>C No ClinGen
TOPMed
TCGA novel 333 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378324080
rs771974715
334 E>K No ClinGen
ExAC
gnomAD
CA5718405
rs771974715
334 E>Q No ClinGen
ExAC
gnomAD
rs370450206
CA5718407
339 E>K No ClinGen
ExAC
gnomAD
COSM915433
CA378324231
rs1217186669
342 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs770659652
CA5718408
343 C>Y No ClinGen
ExAC
gnomAD
rs1312281115
CA378324258
344 T>A No ClinGen
gnomAD
rs776456012
CA5718409
344 T>S No ClinGen
ExAC
gnomAD
CA214277284
rs765497093
345 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA378324328
rs1466672470
349 G>R No ClinGen
gnomAD
CA378324344
rs1189590952
350 D>G No ClinGen
TOPMed
gnomAD
rs1246553987
CA378324352
351 T>A No ClinGen
gnomAD
CA378324360
rs1477162447
351 T>I No ClinGen
gnomAD
CA378324369
rs1564907955
352 D>V No ClinGen
Ensembl
rs1284035312
CA378324389
354 R>* No ClinGen
TOPMed
CA378324393
rs769414189
354 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs769414189
CA214277287
354 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs769414189
CA5718411
354 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs138431479
CA5718412
356 I>V No ClinGen
ESP
ExAC
TOPMed
CA5718413
rs368858538
357 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1233733236
CA378324474
361 E>K No ClinGen
TOPMed
CA5718414
rs764518750
363 S>I No ClinGen
ExAC
gnomAD
TCGA novel 364 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1386331986
CA378324523
364 E>Q No ClinGen
gnomAD
CA378324538
rs1366816157
365 K>Q No ClinGen
TOPMed
CA378324544
rs1458808500
365 K>R No ClinGen
TOPMed
gnomAD
CA214277291
rs753146230
366 L>P No ClinGen
ExAC
gnomAD
CA5718416
rs753146230
366 L>R No ClinGen
ExAC
gnomAD
rs754945850 366 L>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA5718419
rs767907616
367 E>D No ClinGen
ExAC
gnomAD
rs143440140
CA5718454
371 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5718455
rs772576407
373 A>G No ClinGen
ExAC
gnomAD
CA378325797
rs1452039823
373 A>P No ClinGen
TOPMed
rs1341970577
CA378325810
375 T>S No ClinGen
gnomAD
CA5718456
rs773507900
376 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1413029227
CA378325815
376 T>N No ClinGen
TOPMed
gnomAD
CA378325818
rs761050395
377 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs761050395
CA5718457
377 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs138166421
CA5718458
377 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 379 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5718459
rs776687943
380 H>L No ClinGen
ExAC
gnomAD
rs776687943
CA378325844
380 H>R No ClinGen
ExAC
gnomAD
rs759858918
CA5718460
381 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA5718461
rs765226083
381 R>Q No ClinGen
ExAC
gnomAD
CA5718462
rs752826022
382 R>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 384 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 384 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378325885
rs1589829854
386 P>L No ClinGen
Ensembl
rs1405121974
CA378325881
386 P>S No ClinGen
gnomAD
CA378325904
rs1448692261
389 E>K No ClinGen
gnomAD
rs757198528
CA5718464
390 T>I No ClinGen
ExAC
gnomAD
CA378325937
rs1391583376
391 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA378325952
rs1331097455
392 V>I No ClinGen
TOPMed
rs939692635
CA214278435
393 M>I No ClinGen
Ensembl
rs532488621
CA5718465
393 M>T No ClinGen
1000Genomes
ExAC
gnomAD
CA378325993
rs1299798159
394 H>L No ClinGen
TOPMed
rs1036759654
CA214278437
395 N>K No ClinGen
Ensembl
CA378326036
rs1399520641
396 P>L No ClinGen
gnomAD
rs957174987
CA214240030
399 I>T No ClinGen
TOPMed
gnomAD
CA378298833
rs1319252113
400 V>F No ClinGen
TOPMed
CA5718491
CA378298853
rs778558734
401 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA5718490
rs754530335
401 Q>P No ClinGen
ExAC
gnomAD
rs754530335
CA378298850
401 Q>R No ClinGen
ExAC
gnomAD
CA378299261
rs1486100821
407 V>L No ClinGen
gnomAD
rs752167297
CA5718492
408 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs752167297
CA378299266
408 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA378299290
rs1264778287
411 W>* No ClinGen
gnomAD
CA378299300
rs1206028892
412 G>V No ClinGen
TOPMed
gnomAD
rs200433648
CA5718493
413 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs142665854
CA5718494
414 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1291852828
CA378299312
415 Q>K No ClinGen
TOPMed
CA5718498
rs746262767
419 T>R No ClinGen
ExAC
gnomAD
rs775822871
CA214240086
422 R>G No ClinGen
ExAC
gnomAD
CA214240098
rs777371616
423 V>I No ClinGen
gnomAD
rs763315292
CA5718501
425 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1307497741
CA378299389
426 R>H No ClinGen
TOPMed
gnomAD
TCGA novel 428 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378299408
rs1309111891
429 D>V No ClinGen
gnomAD
CA5718504
rs774641043
430 D>N No ClinGen
ExAC
gnomAD
TCGA novel 430 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1263469135
CA378299501
436 P>R No ClinGen
gnomAD
CA378299506
rs1222851948
437 D>N No ClinGen
gnomAD
rs766354801
CA5718506
438 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs769005677
CA5718525
439 E>A No ClinGen
ExAC
gnomAD
CA378300160
rs774516187
CA5718526
440 M>I No ClinGen
ExAC
gnomAD
CA378300146
rs1205940881
440 M>V No ClinGen
gnomAD
CA378300176
rs1483208564
441 P>L No ClinGen
gnomAD
rs1258679688
CA378300274
450 V>L No ClinGen
TOPMed
gnomAD
rs1258679688
CA378300270
450 V>M No ClinGen
TOPMed
gnomAD
CA5718529
rs776604551
452 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs139769006
CA214241978
453 I>T No ClinGen
ESP
TOPMed
rs149785042
CA5718531
455 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378300787
rs1358722024
456 V>E No ClinGen
gnomAD
CA378300826
CA5718534
rs377673883
458 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777850441
CA214241997
458 D>N No ClinGen
gnomAD
CA5718535
rs575485372
460 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5718536
rs750989639
460 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1020743042
CA378300838
461 F>L No ClinGen
TOPMed
gnomAD
rs1020743042
CA214242024
461 F>V No ClinGen
TOPMed
gnomAD
CA214242026
rs968291592
462 R>G No ClinGen
TOPMed
rs1362502357
CA378300882
463 S>I No ClinGen
TOPMed
gnomAD
CA378300879
rs1362502357
463 S>T No ClinGen
TOPMed
gnomAD
rs1273084555
CA378300959
467 C>Y No ClinGen
gnomAD
CA5718564
rs763912028
468 V>A No ClinGen
ExAC
TOPMed
CA5718563
rs763912028
468 V>G No ClinGen
ExAC
TOPMed
rs147878045
CA5718566
469 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1554915226
CA378301227
470 D>V No ClinGen
Ensembl
rs749904301
CA5718567
472 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1168435063
CA378301275
473 V>A No ClinGen
TOPMed
gnomAD
CA378301314
rs1589835577
476 L>V No ClinGen
Ensembl
rs1409451052
CA378301353
478 L>W No ClinGen
gnomAD
CA5718570
rs61736545
480 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5718569
rs373591568
480 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA214242680
rs906102605
481 T>A No ClinGen
Ensembl
CA5718571
rs755363847
482 H>R No ClinGen
ExAC
gnomAD
TCGA novel 483 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5718573
rs752954131
484 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs779199291
CA5718572
484 K>R No ClinGen
ExAC
gnomAD
rs777849244
CA5718575
487 L>V No ClinGen
ExAC
gnomAD
CA214242725
rs903553203
489 D>G No ClinGen
TOPMed
gnomAD
rs1049668345
CA214242728
490 G>R No ClinGen
TOPMed
gnomAD
rs1289628522
CA378301463
491 K>E No ClinGen
gnomAD
rs1384929357
CA378301484
494 R>G No ClinGen
TOPMed
rs769675341
CA5718577
496 E>G No ClinGen
ExAC
gnomAD
CA378301522
rs1406415773
499 P>L No ClinGen
gnomAD
CA5718578
rs779932611
501 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1447195239
CA378301551
503 H>R No ClinGen
TOPMed
CA378301555
rs1482795212
504 S>G No ClinGen
TOPMed
gnomAD
CA214242767
rs1008077793
504 S>N No ClinGen
TOPMed
rs1180146633
CA378301573
506 L>S No ClinGen
gnomAD
rs147738230
CA5718580
507 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147738230
CA378301581
507 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs546099849
CA5718583
509 D>G No ClinGen
1000Genomes
ExAC
gnomAD
rs774079198
CA5718582
509 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs772731225
CA5718585
510 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs772731225
CA5718586
510 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA5718587
rs143333502
511 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378301629
rs1408641196
511 T>K No ClinGen
gnomAD
CA378301645
rs1337988670
512 G>D No ClinGen
gnomAD
rs1482542735
CA378301648
513 V>L No ClinGen
TOPMed
rs760182640
CA5718589
514 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA378301660
rs760182640
514 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1340209092
CA378302283
517 I>M No ClinGen
TOPMed
gnomAD
CA378302277
rs1271986329
517 I>T No ClinGen
gnomAD
rs776351501
CA5718605
517 I>V No ClinGen
ExAC
gnomAD
TCGA novel 518 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1277775669
CA378302362
522 L>* No ClinGen
gnomAD
CA5718607
rs765681617
523 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA378302385
rs765681617
523 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA5718609
rs763191997
524 S>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 525 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5718610
rs764565374
525 I>V No ClinGen
ExAC
gnomAD
CA378302422
rs751766476
526 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs751766476
CA5718611
526 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs757541400
CA5718612
526 G>V No ClinGen
ExAC
gnomAD
rs767516909
CA5718613
527 R>* No ClinGen
ExAC
gnomAD
rs750514756
CA378302437
527 R>L No ClinGen
ExAC
gnomAD
rs750514756
CA5718614
527 R>Q No ClinGen
ExAC
gnomAD
CA378302468
rs1337798742
529 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5718617
rs778749246
529 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs778749246
CA214244032
529 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA5718618
rs371628667
533 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5718619
rs758106598
534 E>G No ClinGen
ExAC
gnomAD
CA5718620
rs777772337
535 T>I No ClinGen
ExAC
gnomAD
rs1225343354
CA378302599
539 I>T No ClinGen
gnomAD
rs1169001494
CA378302596
539 I>V No ClinGen
TOPMed
TCGA novel 543 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1263506124
CA378302632
543 N>K No ClinGen
TOPMed
gnomAD
rs776226090
COSM683071
CA5718624
545 P>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1203200594
CA378302643
545 P>S No ClinGen
gnomAD
rs186676928
CA5718625
546 T>I No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs186676928
CA5718626
546 T>N No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA378302652
rs1385346732
547 Y>H No ClinGen
gnomAD
CA5718627
rs775834491
548 C>R No ClinGen
ExAC
gnomAD
CA378302674
rs1415003638
550 T>A No ClinGen
TOPMed
rs764437558
CA5718629
551 I>V No ClinGen
ExAC
CA5718630
rs774702658
552 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA214244132
rs770429933
556 G>R No ClinGen
Ensembl
CA214244134
rs761963897
557 M>K No ClinGen
ExAC
TOPMed
gnomAD
rs761963897
CA378302720
557 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs761963897
CA5718631
557 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1177848609
CA378302718
557 M>V No ClinGen
gnomAD
TCGA novel 558 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378302740
rs1183145646
560 N>D No ClinGen
TOPMed
rs776055487
CA214244148
561 H>Q No ClinGen
TOPMed
CA5718633
rs750464303
563 H>R No ClinGen
ExAC
gnomAD
rs1385864558
CA378302771
564 A>V No ClinGen
gnomAD
rs1301363778
CA378302772
565 L>F No ClinGen
gnomAD
rs766530551
CA5718635
567 M>V No ClinGen
ExAC
COSM1225065
CA378302803
rs1232395741
569 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
COSM221200
CA5718636
rs752564992
569 R>W haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
rs758432273
CA5718637
577 V>D No ClinGen
ExAC
gnomAD
rs1021225108
CA214244173
577 V>I No ClinGen
TOPMed
gnomAD
CA378302864
rs1328424445
578 S>C No ClinGen
gnomAD
rs1262275386
CA378302869
579 V>A No ClinGen
gnomAD
CA5718638
rs777649406
579 V>L No ClinGen
ExAC
gnomAD
TCGA novel 580 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746816365
CA5718639
580 A>T No ClinGen
ExAC
gnomAD
rs1372039699
CA378302915
584 L>* No ClinGen
TOPMed
rs1427769971
CA378303036
585 G>A No ClinGen
TOPMed
CA5718656
rs764152146
588 I>T No ClinGen
ExAC
gnomAD
TCGA novel 591 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1168034513
CA378303228
592 I>N No ClinGen
gnomAD
rs781187156
CA5718659
592 I>V No ClinGen
ExAC
gnomAD
rs1460385006
CA378303301
595 N>S No ClinGen
TOPMed
gnomAD
rs1299854865
CA378303321
596 Q>E No ClinGen
gnomAD
TCGA novel 598 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748850693
CA5718663
599 L>S No ClinGen
ExAC
gnomAD
CA378303515
rs1384453524
604 C>S No ClinGen
gnomAD
CA214244511
rs892972779
605 P>S No ClinGen
TOPMed
CA378303528
rs892972779
605 P>T No ClinGen
TOPMed
CA378303540
rs1043017086
606 G>* No ClinGen
TOPMed
CA214244527
rs1043017086
606 G>R No ClinGen
TOPMed
CA378303545
rs1396855964
606 G>V No ClinGen
TOPMed
CA5718665
rs373920670
612 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378303681
rs1305304365
615 V>M No ClinGen
gnomAD
CA378303715
rs748705819
616 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs774514800
CA214244554
617 Q>R No ClinGen
gnomAD
CA378303746
rs1202097699
618 L>P No ClinGen
gnomAD
CA5718667
rs772413249
619 H>R No ClinGen
ExAC
gnomAD
CA5718668
rs773693632
620 F>S No ClinGen
ExAC
gnomAD
CA5718669
rs760746099
621 Q>R No ClinGen
ExAC
gnomAD
CA5718670
rs771202705
623 K>N No ClinGen
ExAC
gnomAD
rs1430341442
CA378303868
624 Q>H No ClinGen
gnomAD
rs1432549894
CA378304571
CA378304575
625 M>I No ClinGen
gnomAD
CA5718696
rs775712583
625 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs369465677
CA5718697
625 M>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA378304583
rs1288930933
626 P>T No ClinGen
gnomAD
rs1403606162
CA378304605
627 E>K No ClinGen
gnomAD
rs1564917359
CA378304671
629 P>L No ClinGen
Ensembl
rs1324906873
CA378304664
629 P>S No ClinGen
gnomAD
CA214245378
rs892978455
630 K>N No ClinGen
gnomAD
rs772842575
CA5718699
630 K>Q No ClinGen
ExAC
gnomAD
rs1204330851
CA378304733
633 L>S No ClinGen
TOPMed
rs140192872
CA214245380
636 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
gnomAD
CA378304829
rs1216842869
637 Y>N No ClinGen
gnomAD
rs1564917407
CA378304874
638 D>E No ClinGen
Ensembl
rs114045527
CA5718701
638 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5718703
rs753476103
641 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs374164095
CA214245399
643 N>I No ClinGen
ESP
TOPMed
gnomAD
rs2475298
CA378305016
644 K>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5718704
rs2475298
VAR_019806
644 K>E No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2475298
CA378305002
644 K>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA378305041
rs1461353986
645 E>K No ClinGen
TOPMed
rs752220556
CA5718706
646 V>A No ClinGen
ExAC
gnomAD
rs758785006
CA5718707
647 L>V No ClinGen
ExAC
gnomAD
CA5718708
rs778379735
649 L>F No ClinGen
ExAC
gnomAD
CA378305177
rs1397820773
651 E>K No ClinGen
TOPMed
CA5718710
rs757624489
652 T>A No ClinGen
ExAC
gnomAD
CA5718711
rs781472366
652 T>I No ClinGen
ExAC
TOPMed
rs1304442020
CA378305223
654 E>K No ClinGen
gnomAD
CA378305246
rs1263677333
655 A>P No ClinGen
gnomAD
rs770152698
CA5718713
657 S>N No ClinGen
ExAC
gnomAD
rs1416529511
CA378305287
658 L>V No ClinGen
TOPMed
CA378305309
rs1336519203
660 E>K No ClinGen
TOPMed
rs1251948823
CA378305361
663 S>G No ClinGen
TOPMed
rs868385587
CA214245516
664 T>N No ClinGen
Ensembl
TCGA novel 667 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1456758342
CA378305446
668 E>G No ClinGen
TOPMed
CA214245537
rs774745317
669 K>* No ClinGen
Ensembl
rs1193551398
CA378305473
670 I>N No ClinGen
gnomAD
TCGA novel 671 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1376046358
CA378305490
671 D>V No ClinGen
gnomAD
CA378305507
rs1224511333
672 M>T No ClinGen
gnomAD
CA378305597
CA5718739
rs751525076
CA5718740
677 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs759359968
CA5718738
677 M>K No ClinGen
ExAC
gnomAD
CA378305593
rs1477899283
677 M>V No ClinGen
TOPMed
CA5718741
rs762575657
678 C>F No ClinGen
ExAC
gnomAD
rs763588535
CA5718742
679 T>I No ClinGen
ExAC
gnomAD
TCGA novel 681 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378305631
rs1404426422
682 D>E No ClinGen
gnomAD
rs1454757723
CA378305657
686 M>T No ClinGen
gnomAD
rs751043085
CA5718743
687 G>A No ClinGen
ExAC
gnomAD
CA378305675
rs1225263598
689 P>A No ClinGen
gnomAD
rs144903415
CA5718745
690 L>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751007416
CA5718746
692 P>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 694 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1219231646
CA378305715
695 K>R No ClinGen
gnomAD
CA214246472
rs1044003966
696 I>T No ClinGen
TOPMed
gnomAD
rs780624404
CA378305727
697 A>D No ClinGen
ExAC
gnomAD
CA5718747
rs756524270
697 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs780624404
CA5718748
697 A>V No ClinGen
ExAC
gnomAD
rs138630501
CA5718749
698 N>Y No ClinGen
ESP
ExAC
gnomAD
rs897949452
CA214246481
703 K>R No ClinGen
Ensembl
rs771358747
CA214246490
705 A>D No ClinGen
TOPMed
rs771358747
CA214246495
705 A>V No ClinGen
TOPMed
rs761196215
CA5718762
710 A>T No ClinGen
ExAC
gnomAD
rs767184449
CA378306045
711 A>P No ClinGen
ExAC
gnomAD
CA5718763
rs767184449
711 A>T No ClinGen
ExAC
gnomAD
rs750882092
CA5718764
711 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA378306051
rs1285712261
712 S>A No ClinGen
gnomAD
rs766784462
CA5718766
712 S>L No ClinGen
ExAC
gnomAD
CA378306078
rs1371471965
716 A>T No ClinGen
TOPMed
rs1198097924
CA378306088
717 V>A No ClinGen
gnomAD
CA378306086
rs1295437407
717 V>L No ClinGen
TOPMed
RCV000907197
CA5718768
rs150192084
718 A>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA378306126
rs1363639561
723 K>N No ClinGen
TOPMed
gnomAD
rs1589844450
CA378306127
724 G>R No ClinGen
Ensembl
TCGA novel 726 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1589844459
CA378306155
726 E>K No ClinGen
Ensembl
rs962434784
CA214249208
727 Q>E No ClinGen
TOPMed
gnomAD
rs1451862626
CA378306178
727 Q>R No ClinGen
gnomAD
CA378306208
rs1160550512
729 A>S No ClinGen
gnomAD
rs1160550512
CA378306203
729 A>T No ClinGen
gnomAD
rs889771592
CA214249211
730 Q>R No ClinGen
Ensembl
rs753007024
CA5718770
732 T>I No ClinGen
ExAC
gnomAD
rs758453539
CA5718771
733 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs113720486
CA5718773
735 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378306333
rs1589844503
735 M>T No ClinGen
Ensembl
CA214249226
rs1043826403
735 M>V No ClinGen
gnomAD
CA378306345
rs1388508204
736 A>S No ClinGen
gnomAD
CA378306353
rs1301694253
736 A>V No ClinGen
gnomAD
CA5718774
rs769732292
737 S>F No ClinGen
ExAC
gnomAD
TCGA novel 738 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378306367
rs1589844532
738 L>P No ClinGen
Ensembl
rs1236660060
CA378306363
738 L>V No ClinGen
gnomAD
CA5718776
rs749066200
739 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs779846019
CA378306369
739 P>S No ClinGen
ExAC
gnomAD
rs779846019
CA5718775
739 P>T No ClinGen
ExAC
gnomAD
rs1589844568
CA378306373
740 S>P No ClinGen
Ensembl
TCGA novel 741 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs148443739
CA5718778
742 S>P No ClinGen
ESP
ExAC
gnomAD
CA5718779
rs141474254
743 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs202164600
CA5718780
743 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5718781
rs200201214
744 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1365168603
CA378306408
745 P>R No ClinGen
TOPMed
gnomAD
CA214249293
rs777751087
745 P>S No ClinGen
Ensembl
CA5718785
rs147474858
747 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749246378
CA214249326
747 R>K No ClinGen
Ensembl
rs538234306
CA214249330
751 V>A No ClinGen
TOPMed
gnomAD
CA378306458
rs1294001028
753 A>V No ClinGen
gnomAD
CA214249331
rs780257626
754 C>G No ClinGen
TOPMed
gnomAD
rs780257626
CA378306460
754 C>R No ClinGen
TOPMed
gnomAD
rs1377183771
CA378306467
755 V>E No ClinGen
gnomAD
CA378306466
CA5718790
COSM3806579
rs118110471
755 V>L breast [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA5718789
rs118110471
755 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA378306475
rs1286694834
756 S>F No ClinGen
Ensembl
TCGA novel 756 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5718792
rs185606010
757 S>C No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs185606010
CA5718791
757 S>F No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA378306481
rs1452824139
758 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs564486915
CA5718794
759 C>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5718795
rs778833761
760 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA5718796
rs533400416
761 N>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA378306509
rs1191220062
762 Y>C No ClinGen
TOPMed
rs984453594
CA214249367
763 E>* No ClinGen
Ensembl
rs370626468
CA5718798
767 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5718797
rs771865452
767 V>F No ClinGen
ExAC
gnomAD
rs770517818
CA5718800
769 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA5718802
COSM72578
rs760151239
770 G>R ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5718820
rs770352512
772 V>G No ClinGen
ExAC
gnomAD
CA378307392
rs1312514509
778 S>* No ClinGen
Ensembl
CA5718822
rs763269661
779 L>F No ClinGen
ExAC
gnomAD
rs868510361
CA214251027
781 F>S No ClinGen
Ensembl
CA378307479
rs1324262982
783 P>L No ClinGen
TOPMed
TCGA novel 784 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5718824
rs186551854
785 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199659935
CA214251037
785 I>V No ClinGen
1000Genomes
rs762162010
CA5718825
787 F>C No ClinGen
ExAC
gnomAD
rs767430384
CA378307563
790 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs767430384
CA5718826
790 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs759344772
CA5718828
792 P>L No ClinGen
ExAC
gnomAD
CA5718830
rs145338788
793 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5718829
rs145338788
793 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA378307586
rs147754339
795 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5718832
rs147754339
795 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378307599
rs1197007642
796 F>C No ClinGen
TOPMed
gnomAD
CA378307609
rs751256373
798 T>A No ClinGen
ExAC
gnomAD
CA5718833
rs751256373
798 T>P No ClinGen
ExAC
gnomAD
CA214251093
rs373630628
799 I>T No ClinGen
ESP
rs907375154
CA214251087
799 I>V No ClinGen
Ensembl
rs756942868
CA5718834
800 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs201715421
CA5718835
800 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 801 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745411078
CA5718836
802 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs769225542
CA5718837
803 D>G No ClinGen
ExAC
gnomAD
CA378307688
rs1345435397
810 S>N No ClinGen
gnomAD
CA378307708
rs1276955348
813 T>N No ClinGen
gnomAD
CA5718839
rs149837371
816 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378307730
rs149837371
816 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA214251105
rs149837371
816 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378307732
COSM915437
rs1365772848
817 F>L Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1223608744
CA378307767
821 Y>F No ClinGen
gnomAD
rs1258483628
CA378307772
822 H>R No ClinGen
TOPMed
rs769003731
CA5718840
822 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA5718841
rs190606694
823 P>L No ClinGen
1000Genomes
ExAC
rs779605044
CA5718856
825 D>E No ClinGen
ExAC
gnomAD
CA378307922
rs1589848257
828 A>S No ClinGen
Ensembl
CA214251489
rs937436663
829 Y>C No ClinGen
gnomAD
CA5718858
rs755489376
832 E>G No ClinGen
ExAC
gnomAD
rs779200717
CA5718859
834 M>V No ClinGen
ExAC
gnomAD
rs773464259
CA5718862
835 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA5718861
rs772365064
835 I>S No ClinGen
ExAC
gnomAD
CA5718860
rs748578577
835 I>V No ClinGen
ExAC
gnomAD
CA214251520
rs920112589
836 V>I No ClinGen
TOPMed
gnomAD
CA378308052
rs920112589
836 V>L No ClinGen
TOPMed
gnomAD
CA5718863
rs747206379
839 L>W No ClinGen
ExAC
TOPMed
gnomAD
rs931537078
CA214251525
843 A>V No ClinGen
Ensembl
TCGA novel 844 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378308118
rs1215492572
845 L>V No ClinGen
gnomAD
CA5718864
rs771064368
848 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs771064368
CA378308137
848 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA5718865
rs776913761
851 G>S No ClinGen
ExAC
gnomAD
rs1236202684
CA378308201
853 K>R No ClinGen
gnomAD
CA5718866
rs762966895
856 H>R No ClinGen
ExAC
gnomAD
CA378308638
rs1475361485
858 E>D No ClinGen
TOPMed
gnomAD
CA378308641
rs1169212931
859 L>M No ClinGen
gnomAD
rs1282863904
CA378308693
861 E>G No ClinGen
Ensembl
CA378308675
rs1400362597
861 E>K No ClinGen
gnomAD
CA214252649
rs868149283
863 L>F No ClinGen
Ensembl
rs774288951
CA5718889
865 R>C No ClinGen
ExAC
gnomAD
rs11199127
CA5718890
865 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs11199127
CA5718891
865 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA378308768
rs1223120543
866 M>V No ClinGen
TOPMed
CA378308834
rs1343040168
869 D>E No ClinGen
TOPMed
CA5718892
rs772939972
871 K>R No ClinGen
ExAC
gnomAD
rs760299864
CA5718893
872 Q>H No ClinGen
ExAC
gnomAD
rs111531475
CA214252664
872 Q>P No ClinGen
Ensembl
rs1416440304
CA378308894
873 G>S No ClinGen
gnomAD
CA5718894
rs766060357
873 G>V No ClinGen
ExAC
rs753519185
CA5718895
875 I>V No ClinGen
ExAC
gnomAD
rs758996104
CA5718896
876 S>G No ClinGen
ExAC
gnomAD
CA378308959
rs1428764543
876 S>I No ClinGen
gnomAD
rs889955942
CA214252676
878 L>F No ClinGen
TOPMed
gnomAD
rs1342302963
CA378309003
879 K>R No ClinGen
gnomAD
rs764665852
CA5718897
881 A>V No ClinGen
ExAC
gnomAD
TCGA novel 882 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1326900826
CA378309050
882 W>R No ClinGen
TOPMed
rs753178782
CA5718898
883 Q>H No ClinGen
ExAC
gnomAD
rs145814192
CA5718899
884 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA378309098
rs145814192
884 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1011113991
CA214252694
887 E>D No ClinGen
TOPMed
gnomAD
CA5718901
rs752014793
890 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA5718902
rs752014793
890 R>G No ClinGen
ExAC
TOPMed
gnomAD
COSM3375358
CA5718903
rs781519695
890 R>H pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA378309213
rs781519695
890 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs746108773
CA5718904
891 A>T No ClinGen
ExAC
gnomAD
rs1476046589
CA378309229
891 A>V No ClinGen
TOPMed
rs769930857
CA5718905
892 H>Y No ClinGen
ExAC
gnomAD
rs780066966
CA5718906
893 T>A No ClinGen
ExAC
gnomAD
rs748104621
CA5718907
893 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA378309271
rs1417872771
894 S>Y No ClinGen
gnomAD
rs1334591404
CA378309279
895 S>T No ClinGen
gnomAD
rs1362370658
CA378309340
898 L>F No ClinGen
TOPMed
gnomAD
rs773028749
CA5718909
900 E>D No ClinGen
ExAC
gnomAD
rs376585781
CA214252741
904 K>E No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 907 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770733672
CA5718911
909 I>M No ClinGen
ExAC
gnomAD
rs776206552
CA5718913
910 K>R No ClinGen
ExAC
gnomAD
CA5718914
rs369255142
911 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764796711
CA5718915
912 E>V No ClinGen
ExAC
gnomAD
CA378309586
rs1488892914
913 E>A No ClinGen
gnomAD
rs1564925246
CA378309634
916 Q>K No ClinGen
Ensembl
CA378309648
rs1222456591
916 Q>R No ClinGen
TOPMed
gnomAD
CA5718916
rs529496530
917 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs529496530
CA378309663
917 V>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1296843254
CA378309676
918 V>F No ClinGen
TOPMed
TCGA novel 921 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 923 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs373433217
CA5718928
926 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777637887
CA5718929
927 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA378309981
rs1388117365
931 K>E No ClinGen
TOPMed
CA378310016
rs1250322813
933 E>K No ClinGen
gnomAD
CA378310068
rs1180789810
935 Y>C No ClinGen
gnomAD
rs148970184
CA5718932
936 L>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 937 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1589850387
CA378310097
937 G>R No ClinGen
Ensembl
rs981231560
CA214253112
938 K>N No ClinGen
TOPMed
gnomAD
CA5718933
rs759173606
939 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA5718934
rs769377138
939 V>G No ClinGen
ExAC
TOPMed
rs878972029
CA214253113
941 M>I No ClinGen
Ensembl
CA5718936
rs376576338
946 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763678111
CA5718937
COSM915440
946 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1444349785
COSM683068
CA378310266
947 R>* lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA5718938
COSM277200
rs200302175
947 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs762480287
CA5718939
948 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA378310304
rs1394875825
949 D>G No ClinGen
gnomAD
rs1324011586
CA378310323
950 Y>C No ClinGen
gnomAD
CA5718940
rs34813839
950 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756330451
CA378310339
951 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs756330451
CA5718942
951 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA214253134
rs986074310
954 E>G No ClinGen
gnomAD
rs1238958526
CA378310414
955 K>E No ClinGen
gnomAD
rs754954332
CA5718949
COSM1504346
957 I>M lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs866731930
CA5718947
957 I>T No ClinGen
TOPMed
CA378310473
rs1178021302
957 I>V No ClinGen
gnomAD
rs1307448857
CA378310588
961 N>S No ClinGen
TOPMed
rs778967212
CA5718950
963 Y>H No ClinGen
ExAC
gnomAD
rs746942059
CA378310640
964 L>I No ClinGen
ExAC
gnomAD
CA5718951
rs746942059
964 L>V No ClinGen
ExAC
gnomAD
rs146444843
CA378310668
965 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1368678376
CA378310692
966 A>G No ClinGen
TOPMed
CA378310677
rs1463817666
966 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1018267885
CA214253152
968 Q>E No ClinGen
TOPMed
gnomAD
TCGA novel 969 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA378310805
rs372551457
970 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs191012513
CA5718954
972 C>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1278069006 973 Y>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA5718955
rs769656685
973 Y>C No ClinGen
ExAC
gnomAD
CA214253170
rs979531196
974 W>L No ClinGen
Ensembl
rs931057080
CA214253396
979 T>A No ClinGen
TOPMed
gnomAD
CA5718978
rs747621650
981 L>P No ClinGen
ExAC
gnomAD
CA378311832
rs1564926182
983 L>V No ClinGen
Ensembl
rs751145632
CA214253420
984 L>F No ClinGen
TOPMed
CA5718980
rs771730724
985 K>E No ClinGen
ExAC
gnomAD
CA378311909
rs1433468888
986 E>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs773533394
CA5718981
987 I>M No ClinGen
ExAC
gnomAD
CA378311959
rs1335539832
988 Y>S No ClinGen
TOPMed
gnomAD
CA214253440
rs904414734
COSM915441
989 R>* Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs377380377
CA5718982
989 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5718983
rs771194138
990 T>A No ClinGen
ExAC
gnomAD
CA378312012
rs1440957141
991 M>L No ClinGen
gnomAD
rs375370510
CA214253453
992 N>D No ClinGen
gnomAD
rs868611025
CA214253456
992 N>K No ClinGen
Ensembl
CA5718985
rs553893309
993 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA378312095
rs1308236936
994 S>G No ClinGen
TOPMed
gnomAD
CA5718987
rs752944322
997 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA5718988
rs762967285
998 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA378312248
rs1351986665
998 P>L No ClinGen
TOPMed
gnomAD
rs762967285
CA378312228
998 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA214253473
rs866093624
999 Q>* No ClinGen
Ensembl
CA378312314
rs144594354
1000 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD

No associated diseases with Q9Y6Y8

1 regional properties for Q9Y6Y8

Type Name Position InterPro Accession
domain Ribosomal RNA methyltransferase, FtsJ domain 28 - 208 IPR002877

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasmic vesicle, COPII-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side
  • Endoplasmic reticulum
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
COPII-coated ER to Golgi transport vesicle A vesicle with a coat formed of the COPII coat complex proteins. The COPII coat complex is formed by the Sec23p/Sec24p and the Sec13p/Sec31p heterodimers. COPII-associated vesicles transport proteins from the rough endoplasmic reticulum to the Golgi apparatus (anterograde transport).
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum-Golgi intermediate compartment A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi and Golgi-to-ER transport.
ER to Golgi transport vesicle membrane The lipid bilayer surrounding a vesicle transporting substances from the endoplasmic reticulum to the Golgi.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.

3 GO annotations of molecular function

Name Definition
metal ion binding Binding to a metal ion.
phospholipase activity Catalysis of the hydrolysis of a glycerophospholipid.
RNA binding Binding to an RNA molecule or a portion thereof.

3 GO annotations of biological process

Name Definition
endoplasmic reticulum to Golgi vesicle-mediated transport The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi.
Golgi organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
intracellular protein transport The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q12204 YOR022C Probable phospholipase YOR022C, mitochondrial Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q8W5R2 SGR2 Phospholipase SGR2 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MAERKPNGGS GGASTSSSGT NLLFSSSATE FSFNVPFIPV TQASASPASL LLPGEDSTDV
70 80 90 100 110 120
GEEDSFLGQT SIHTSAPQTF SYFSQVSSSS DPFGNIGQSP LTTAATSVGQ SGFPKPLTAL
130 140 150 160 170 180
PFTTGSQDVS NAFSPSISKA QPGAPPSSLM GINSYLPSQP SSLPPSYFGN QPQGIPQPGY
190 200 210 220 230 240
NPYRHTPGSS RANPYIAPPQ LQQCQTPGPP AHPPPSGPPV QMYQMPPGSL PPVPSSVQSP
250 260 270 280 290 300
AQQQVPARPG APSVQVPSPF LLQNQYEPVQ PHWFYCKEVE YKQLWMPFSV FDSLNLEEIY
310 320 330 340 350 360
NSVQPDPESV VLGTDGGRYD VYLYDRIRKA AYWEEEPAEV RRCTWFYKGD TDSRFIPYTE
370 380 390 400 410 420
EFSEKLEAEY KKAVTTNQWH RRLEFPSGET IVMHNPKVIV QFQPSSVPDE WGTTQDGQTR
430 440 450 460 470 480
PRVVKRGIDD NLDEIPDGEM PQVDHLVFVV HGIGPVCDLR FRSIIECVDD FRVVSLKLLR
490 500 510 520 530 540
THFKKSLDDG KVSRVEFLPV HWHSSLGGDA TGVDRNIKKI TLPSIGRFRH FTNETLLDIL
550 560 570 580 590 600
FYNSPTYCQT IVEKVGMEIN HLHALFMSRN PDFKGGVSVA GHSLGSLILF DILSNQKDLN
610 620 630 640 650 660
LSKCPGPLAV ANGVVKQLHF QEKQMPEEPK LTLDESYDLV VENKEVLTLQ ETLEALSLSE
670 680 690 700 710 720
YFSTFEKEKI DMESLLMCTV DDLKEMGIPL GPRKKIANFV EHKAAKLKKA ASEKKAVAAT
730 740 750 760 770 780
STKGQEQSAQ KTKDMASLPS ESNEPKRKLP VGACVSSVCV NYESFEVGAG QVSVAYNSLD
790 800 810 820 830 840
FEPEIFFALG SPIAMFLTIR GVDRIDENYS LPTCKGFFNI YHPLDPVAYR LEPMIVPDLD
850 860 870 880 890 900
LKAVLIPHHK GRKRLHLELK ESLSRMGSDL KQGFISSLKS AWQTLNEFAR AHTSSTQLQE
910 920 930 940 950 960
ELEKVANQIK EEEEKQVVEA EKVVESPDFS KDEDYLGKVG MLNGGRRIDY VLQEKPIESF
970 980 990
NEYLFALQSH LCYWESEDTA LLLLKEIYRT MNISPEQPQH